Jean Charlet Marie-Christine Jaulent Orphanet Inserm US14 Pierre-Yves VandenBussche Rémy Choquet Xavier Aimé Ferdinand Dhombres 2013-09-11 00:19:52 Ontologie des maladies rares établie par lors du projet de recherche OrphaOnto (2010-2012, Limics, INSERM UMRS872) à partir des données d'Orphanet, INSERM US14 COPYRIGHT 2010-2013, INSERM, France Human Rare Diseases Ontology - HRDO Ontologie des maladies rares humaines Relation entre une maladie au niveau "disorder" et ses sous-types (cliniques, étioogiques...) Relation entre une hiérarchie et la maladie (ou un groupe de maladies) qui en est le sommet. Par exemple : "Classification Orphanet des maladies cardiaques rares" hasTopConcept "maladie cardiaque rare" Relation entre un mode de transmission et une maladie. Relation de causalité entre deux maladies. Par exemple : "Tublerculose" isCauseOf "infertilité masculie rare". pour les anomalies chromosomiques hrdo:gen_id_1 gene gene gène hrdo:gen_id_15044 PHF6 ENSG00000156531 PHF6 18145 300414 Q8IWS0 BFLS KIAA1823 MGC14797 PHD finger protein 6 hrdo:gen_id_15045 SEPT9 ENSG00000184640 SEPT9 7323 604061 Q9UHD8 AF17q25 KIAA0991 MSF MSF1 PNUTL4 SeptD1 Septin 9 hrdo:gen_id_15046 AAAS ENSG00000094914 AAAS 13666 605378 Q9NRG9 Q9NRG9 Achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A) hrdo:gen_id_15048 ABAT ENSG00000183044 ABAT 23 137150 P80404 P80404 GABAT 4-aminobutyrate aminotransferase hrdo:gen_id_15049 ABCA12 ENSG00000144452 ABCA12 14637 607800 Q86UK0 Q86UK0 DKFZP434G232 ATP-binding cassette, sub-family A (ABC1), member 12 hrdo:gen_id_15050 ABCA4 ENSG00000198691 ABCA4 34 601691 P78363 P78363 ABCR ARMD2 FFM RP19 STGD STGD1 ATP-binding cassette, sub-family A (ABC1), member 4 hrdo:gen_id_15051 ABCB11 ENSG00000073734 ABCB11 42 603201 O95342 O95342 ABC16 BSEP PFIC-2 PFIC2 PGY4 SPGP ATP-binding cassette, sub-family B (MDR/TAP), member 11 hrdo:gen_id_15052 ABCB4 ENSG00000005471 ABCB4 45 171060 P21439 P21439 GBD1 MDR2 MDR3 PFIC-3 PGY3 ATP-binding cassette, sub-family B (MDR/TAP), member 4 hrdo:gen_id_15053 ABCB7 ENSG00000131269 ABCB7 48 300135 O75027 O75027 ABC7 ASAT Atm1p EST140535 ATP-binding cassette, sub-family B (MDR/TAP), member 7 hrdo:gen_id_15054 ABCC2 ENSG00000023839 ABCC2 53 601107 Q92887 Q92887 CMOAT DJS MRP2 cMRP ATP-binding cassette, sub-family C (CFTR/MRP), member 2 hrdo:gen_id_15055 ABCC6 ENSG00000091262 ABCC6 57 603234 O95255 O95255 ARA EST349056 MLP1 MRP6 PXE ATP-binding cassette, sub-family C (CFTR/MRP), member 6 hrdo:gen_id_15056 ABCC8 ENSG00000006071 ABCC8 59 600509 Q09428 Q09428 HI HRINS MRP8 PHHI SUR SUR1 ATP-binding cassette, sub-family C (CFTR/MRP), member 8 hrdo:gen_id_15057 ABCC9 ENSG00000069431 ABCC9 60 601439 O60706 O60706 CMD1O SUR2 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 hrdo:gen_id_15058 ABCD1 ENSG00000101986 ABCD1 61 300371 P33897 P33897 ALD ALDP AMN adrenoleukodystrophy ATP-binding cassette, sub-family D (ALD), member 1 hrdo:gen_id_15059 ABCG5 ENSG00000138075 ABCG5 13886 605459 Q9H222 Q9H222 ATP-binding cassette, sub-family G (WHITE), member 5 (sterolin 1) hrdo:gen_id_15060 ABCG8 ENSG00000143921 ABCG8 13887 605460 Q9H221 Q9H221 ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2) hrdo:gen_id_15061 ABHD5 ENSG00000011198 ABHD5 21396 604780 Q8WTS1 Q8WTS1 CGI-58 NCIE2 Abhydrolase domain containing 5 hrdo:gen_id_15062 ABL1 ENSG00000097007 ABL1 76 189980 P00519 P00519 ABL JTK7 c-ABL p150 v-abl V-abl Abelson murine leukemia viral oncogene homolog 1 hrdo:gen_id_15064 ACADM ENSG00000117054 ACADM 89 607008 P11310 P11310 ACAD1 MCAD MCADH Acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain hrdo:gen_id_15065 ACADS ENSG00000122971 ACADS 90 606885 P16219 P16219 ACAD3 SCAD Acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain hrdo:gen_id_15066 ACADSB ENSG00000196177 ACADSB 91 600301 P45954 P45954 ACAD7 SBCAD Acyl-Coenzyme A dehydrogenase, short/branched chain hrdo:gen_id_15067 ACADVL ENSG00000072778 ACADVL 92 609575 P49748 P49748 ACAD6 LCACD VLCAD Acyl-Coenzyme A dehydrogenase, very long chain hrdo:gen_id_15068 ACAN ENSG00000157766 ACAN 319 155760 P16112 AGC1 CSPG1 CSPGCP MSK16 Aggrecan hrdo:gen_id_15069 ACAT1 ENSG00000075239 ACAT1 93 607809 P24752 P24752 ACAT THIL Acetyl-Coenzyme A acetyltransferase 1 (acetoacetyl Coenzyme A thiolase) hrdo:gen_id_15070 ACE ENSG00000159640 ACE 2707 106180 P12821 ACE1 CD143 DCP1 Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 hrdo:gen_id_15072 ACOX1 ENSG00000161533 ACOX1 119 609751 Q15067 Q15067 PALMCOX Acyl-Coenzyme A oxidase 1, palmitoyl hrdo:gen_id_15073 ACP2 ENSG00000134575 ACP2 123 171650 P11117 Acid phosphatase 2, lysosomal hrdo:gen_id_15074 ACSL4 ENSG00000068366 ACSL4 3571 300157 O60488 O60488 ACS4 FACL4 LACS4 MRX63 MRX68 Acyl-CoA synthetase long-chain family member 4 hrdo:gen_id_15075 ACTA1 ENSG00000143632 ACTA1 129 102610 P68133 P68133 ACTA Actin, alpha 1, skeletal muscle hrdo:gen_id_15076 ACTC1 ENSG00000159251 ACTC1 143 102540 P68032 P68032 ACTC CMD1R Actin, alpha, cardiac muscle 1 hrdo:gen_id_15077 ACTN4 ENSG00000130402 ACTN4 166 604638 O43707 O43707 Actinin, alpha 4 hrdo:gen_id_15078 ACVR1 ENSG00000115170 ACVR1 171 102576 Q04771 ACVRLK2 ALK2 SKR1 Activin A receptor, type I hrdo:gen_id_15079 ACVRL1 ENSG00000139567 ACVRL1 175 601284 P37023 ACVRLK1 ALK1 HHT HHT2 ORW2 Activin A receptor type II-like 1 hrdo:gen_id_15080 ADA ENSG00000196839 ADA 186 608958 P00813 P00813 Adenosine deaminase hrdo:gen_id_15081 ADAMTS10 ENSG00000142303 ADAMTS10 13201 608990 Q9H324 ADAM-TS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 hrdo:gen_id_15082 ADAMTS13 ENSG00000160323 ADAMTS13 1366 604134 Q76LX8 C9orf8 VWFCP ADAM metallopeptidase with thrombospondin type 1 motif, 13 hrdo:gen_id_15083 ADAMTS2 ENSG00000087116 ADAMTS2 218 604539 O95450 ADAM-TS2 ADAMTS-3 PCINP hPCPNI ADAM metallopeptidase with thrombospondin type 1 motif, 2 hrdo:gen_id_15084 PHGDH ENSG00000092621 PHGDH 8923 606879 O43175 O43175 PDG PGDH SERA Phosphoglycerate dehydrogenase hrdo:gen_id_15085 PHKA1 ENSG00000067177 PHKA1 8925 311870 P46020 P46020 PHKA Phosphorylase kinase, alpha 1 (muscle) hrdo:gen_id_15086 PHKA2 ENSG00000044446 PHKA2 8926 300798 P46019 P46019 PHK PYK Phosphorylase kinase, alpha 2 (liver) hrdo:gen_id_15087 PHKB ENSG00000102893 PHKB 8927 172490 Q93100 Q93100 Phosphorylase kinase, beta hrdo:gen_id_15088 PHOX2A ENSG00000165462 PHOX2A 691 602753 O14813 ARIX CFEOM2 FEOM2 PMX2A Paired-like homeobox 2a hrdo:gen_id_15089 PHOX2B ENSG00000109132 PHOX2B 9143 603851 Q99453 NBPhox PMX2B Phox2b Paired-like homeobox 2b hrdo:gen_id_15090 PHYH ENSG00000107537 PHYH 8940 602026 O14832 O14832 PAHX PHYH1 RD Phytanoyl-CoA 2-hydroxylase hrdo:gen_id_15092 PIGM ENSG00000143315 PIGM 18858 610273 Q9H3S5 Q9H3S5 Phosphatidylinositol glycan anchor biosynthesis, class M hrdo:gen_id_15093 PIK3CA ENSG00000121879 PIK3CA 8975 171834 P42336 P42336 Phosphoinositide-3-kinase, catalytic, alpha polypeptide hrdo:gen_id_15094 PINK1 ENSG00000158828 PINK1 14581 608309 Q9BXM7 PARK6 PTEN induced putative kinase 1 hrdo:gen_id_15095 PIKFYVE ENSG00000115020 PIP5K3 23785 609414 Q9Y2I7 KIAA0981 MGC40423 PIKfyve PIP5K PIP5K3 p235 Phosphoinositide kinase, FYVE finger containing hrdo:gen_id_15096 PITX2 ENSG00000164093 PITX2 9005 601542 Q99697 ARP1 Brx1 IGDS IHG2 IRID2 Otlx2 RGS RIEG RIEG1 RS Paired-like homeodomain 2 hrdo:gen_id_15097 PITX3 ENSG00000107859 PITX3 9006 602669 O75364 Paired-like homeodomain 3 hrdo:gen_id_15098 PKD1 ENSG00000008710 PKD1 9008 601313 P98161 PBP Polycystic kidney disease 1 (autosomal dominant) hrdo:gen_id_15099 PKD2 ENSG00000118762 PKD2 9009 504 173910 Q13563 PC2 PKD4 Polycystic kidney disease 2 (autosomal dominant) hrdo:gen_id_15100 PKHD1 ENSG00000170927 PKHD1 9016 606702 P08F94 ARPKD FCYT TIGM1 fibrocystin polyductin tigmin Polycystic kidney and hepatic disease 1 (autosomal recessive) hrdo:gen_id_15101 PKLR ENSG00000143627 PKLR 9020 609712 P30613 P30613 Pyruvate kinase, liver and RBC hrdo:gen_id_15103 PKP1 ENSG00000081277 PKP1 9023 601975 Q13835 Q13835 B6P Plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) hrdo:gen_id_15104 PKP2 ENSG00000057294 PKP2 9024 602861 Q99959 Plakophilin 2 hrdo:gen_id_15105 PLA2G6 ENSG00000184381 PLA2G6 9039 603604 O60733 PNPLA9 iPLA2 Phospholipase A2, group VI (cytosolic, calcium-independent) hrdo:gen_id_15106 PLEC ENSG00000178209 PLEC 9069 601282 Q15149 Q15149 EBS1 PCN PLEC1 PLTN Plectin hrdo:gen_id_15107 PLEKHG4 ENSG00000196155 PLEKHG4 24501 609526 Q58EX7 DKFZP434I216 SCA4 Pleckstrin homology domain containing, family G (with RhoGef domain) member 4 hrdo:gen_id_15108 PLG ENSG00000122194 PLG 9071 173350 P00747 P00747 Plasminogen hrdo:gen_id_15109 PLOD1 ENSG00000083444 PLOD1 9081 153454 Q02809 LLH PLOD Procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1 hrdo:gen_id_15110 PLOD2 ENSG00000152952 PLOD2 9082 601865 O00469 Procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 hrdo:gen_id_15111 PLP1 ENSG00000123560 PLP1 9086 300401 P60201 PLP SPG2 Proteolipid protein 1 (Pelizaeus-Merzbacher disease, spastic paraplegia 2, uncomplicated) hrdo:gen_id_15112 PML ENSG00000140464 PML 9113 102578 P29590 P29590 MYL RNF71 TRIM19 Promyelocytic leukemia hrdo:gen_id_15113 PMM2 ENSG00000140650 PMM2 9115 601785 O15305 O15305 CDG1 CDG1a CDGS Phosphomannomutase 2 hrdo:gen_id_15114 PMP22 ENSG00000109099 PMP22 9118 601097 Q01453 GAS-3 HNPP Sp110 Peripheral myelin protein 22 hrdo:gen_id_15115 PMS1 ENSG00000064933 PMS1 9121 600258 P54277 PMSL1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae) hrdo:gen_id_15116 PMS2 ENSG00000122512 PMS2 9122 600259 P54278 HNPCC4 H_DJ0042M02.9 PMSL2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) hrdo:gen_id_15117 POF1B ENSG00000124429 POF1B 13711 300603 Q8WVV4 FLJ22792 POF Premature ovarian failure, 1B hrdo:gen_id_15118 POLG ENSG00000140521 POLG 9179 174763 P54098 Polymerase (DNA directed), gamma hrdo:gen_id_15119 POLG2 ENSG00000256525 POLG2 9180 604983 Q9UHN1 HP55 MTPOLB Polymerase (DNA directed), gamma 2, accessory subunit hrdo:gen_id_15120 POLH ENSG00000170734 POLH 9181 603968 Q9Y253 Q9Y253 RAD30A XP-V Polymerase (DNA directed), eta hrdo:gen_id_15121 POMGNT1 ENSG00000085998 POMGNT1 19139 606822 Q8WZA1 FLJ20277 MGAT1.2 Protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase hrdo:gen_id_15122 POMT1 ENSG00000130714 POMT1 9202 607423 Q9Y6A1 LGMD2K Protein-O-mannosyltransferase 1 hrdo:gen_id_15123 POMT2 ENSG00000009830 POMT2 19743 607439 Q9UKY4 Protein-O-mannosyltransferase 2 hrdo:gen_id_15124 POR ENSG00000127948 POR 9208 124015 P16435 CYPOR FLJ26468 P450 (cytochrome) oxidoreductase hrdo:gen_id_15125 POU1F1 ENSG00000064835 POU1F1 9210 173110 P28069 GHF-1 PIT1 POU class 1 homeobox 1 hrdo:gen_id_15126 POU3F4 ENSG00000196767 POU3F4 9217 300039 P49335 BRN4 DFN3 OTF9 POU class 3 homeobox 4 hrdo:gen_id_15127 POU4F3 ENSG00000091010 POU4F3 9220 602460 Q15319 BRN3C DFNA15 POU class 4 homeobox 3 hrdo:gen_id_15128 POU6F2 ENSG00000106536 POU6F2 21694 609062 P78424 RPF-1 POU class 6 homeobox 2 hrdo:gen_id_15129 PPARG ENSG00000132170 PPARG 9236 595 601487 P37231 P37231 NR1C3 PPARG1 PPARG2 Peroxisome proliferator-activated receptor gamma hrdo:gen_id_15130 PPOX ENSG00000143224 PPOX 9280 600923 P50336 P50336 PPO VP Protoporphyrinogen oxidase hrdo:gen_id_15131 PPP2R2B ENSG00000156475 PPP2R2B 9305 604325 Q00005 PR52B PR55-BETA SCA12 Protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform hrdo:gen_id_15132 PPT1 ENSG00000131238 PPT1 9325 600722 P50897 CLN1 INCL PPT Palmitoyl-protein thioesterase 1 (ceroid-lipofuscinosis, neuronal 1, infantile) hrdo:gen_id_15133 PQBP1 ENSG00000102103 PQBP1 9330 300463 O60828 MRX55 MRXS8 RENS1 SHS Polyglutamine binding protein 1 hrdo:gen_id_15134 PRCC ENSG00000143294 PRCC 9343 179755 Q92733 RCCP1 Papillary renal cell carcinoma (translocation-associated) hrdo:gen_id_15135 PRCD ENSG00000214140 PRCD 32528 610598 Q00LT1 RP36 Progressive rod-cone degeneration hrdo:gen_id_15136 PRF1 ENSG00000180644 PRF1 9360 170280 P14222 HPLH2 P1 PFP Perforin 1 (pore forming protein) hrdo:gen_id_15137 PRG4 ENSG00000116690 PRG4 9364 604283 Q92954 CACP JCAP MSF SZP Proteoglycan 4 hrdo:gen_id_15138 PRKAG2 ENSG00000106617 PRKAG2 9386 602743 Q9UGJ0 Q9UGJ0 AAKG AAKG2 Protein kinase, AMP-activated, gamma 2 non-catalytic subunit hrdo:gen_id_15139 PRKAR1A ENSG00000108946 PRKAR1A 9388 188830 P10644 P10644 PRKAR1 TSE1 Protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1) hrdo:gen_id_15140 PRKCG ENSG00000126583 PRKCG 9402 176980 P05129 P05129 MGC57564 PKCC PKCG SCA14 Protein kinase C, gamma hrdo:gen_id_15141 PRKCSH ENSG00000130175 PRKCSH 9411 177060 P14314 P14314 G19P1 Protein kinase C substrate 80K-H hrdo:gen_id_15142 PRNP ENSG00000171867 PRNP 9449 176640 P04156 P04156 CD230 CJD GSS PRIP PRP Prion protein (p27-30) (Creutzfeldt-Jakob disease, Gerstmann-Strausler-Scheinker syndrome, fatal familial insomnia) hrdo:gen_id_15143 PROC ENSG00000115718 PROC 9451 612283 P04070 P04070 Protein C (inactivator of coagulation factors Va and VIIIa) hrdo:gen_id_15144 PRODH ENSG00000100033 PRODH 9453 606810 O43272 O43272 HSPOX2 PIG6 PRODH1 PRODH2 TP53I6 Proline dehydrogenase (oxidase) 1 hrdo:gen_id_15145 PROK2 ENSG00000163421 PROK2 18455 607002 Q9HC23 Q9HC23 BV8 MIT1 PK2 Prokineticin 2 hrdo:gen_id_15146 PROKR2 ENSG00000101292 PROKR2 15836 336 607123 Q8NFJ6 Q8NFJ6 GPR73L1 GPR73b GPRg2 PKR2 dJ680N4.3 Prokineticin receptor 2 hrdo:gen_id_15147 PROP1 ENSG00000175325 PROP1 9455 601538 O75360 PROP paired-like homeobox 1 hrdo:gen_id_15148 PROS1 ENSG00000184500 PROS1 9456 176880 P07225 P07225 PROS Protein S (alpha) hrdo:gen_id_15149 PRPF3 ENSG00000117360 PRPF3 17348 607301 O43395 HPRP3 Prp3p RP18 PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae) hrdo:gen_id_15150 PRPF31 ENSG00000105618 PRPF31 15446 606419 Q8WWY3 NY-BR-99 PRP31 RP11 PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) hrdo:gen_id_15151 PRPF8 ENSG00000174231 PRPF8 17340 607300 Q6P2Q9 Q6P2Q9 PRPC8 RP13 PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) hrdo:gen_id_15152 PRPH2 ENSG00000112619 PRPH2 9942 179605 P23942 RDS RP7 TSPAN22 rd2 Peripherin 2 (retinal degeneration, slow) hrdo:gen_id_15153 PRPS1 ENSG00000147224 PRPS1 9462 311850 P60891 P60891 Phosphoribosyl pyrophosphate synthetase 1 hrdo:gen_id_15155 PRSS1 ENSG00000204983 PRSS1 9475 276000 P07477 P07477 TRY1 Protease, serine, 1 (trypsin 1) hrdo:gen_id_15156 PRSS12 ENSG00000164099 PRSS12 9477 606709 P56730 BSSP-3 MRT1 Protease, serine, 12 (neurotrypsin, motopsin) hrdo:gen_id_15157 PRTN3 ENSG00000196415 PRTN3 9495 177020 P24158 ACPA C-ANCA PR-3 Proteinase 3 (serine proteinase, neutrophil, Wegener granulomatosis autoantigen) hrdo:gen_id_15158 PRX ENSG00000105227 PRX 13797 605725 Q9BXM0 KIAA1620 Periaxin hrdo:gen_id_15159 PSAP ENSG00000197746 PSAP 9498 176801 P07602 P07602 GLBA SAP1 Prosaposin (variant Gaucher disease and variant metachromatic leukodystrophy) hrdo:gen_id_15160 PSEN1 ENSG00000080815 PSEN1 9508 104311 P49768 P49768 AD3 FAD PS1 S182 Presenilin 1 hrdo:gen_id_15161 PSEN2 ENSG00000143801 PSEN2 9509 600759 P49810 P49810 AD3L AD4 PS2 STM2 Presenilin 2 (Alzheimer disease 4) hrdo:gen_id_15162 PSPH ENSG00000146733 PSPH 9577 172480 P78330 P78330 PSP Phosphoserine phosphatase hrdo:gen_id_15163 PSTPIP1 ENSG00000140368 PSTPIP1 9580 606347 O43586 O43586 CD2BP1 CD2BP1L CD2BP1S H-PIP PSTPIP Proline-serine-threonine phosphatase interacting protein 1 hrdo:gen_id_15164 PTCH1 ENSG00000185920 PTCH1 9585 601309 Q13635 Q13635 BCNS NBCCS PTCH Patched homolog 1 (Drosophila) hrdo:gen_id_15165 PTCH2 ENSG00000117425 PTCH2 9586 603673 Q9Y6C5 Q9Y6C5 Patched homolog 2 (Drosophila) hrdo:gen_id_15166 PTEN ENSG00000171862 PTEN 9588 601728 P60484 P60484 BZS MHAM MMAC1 PTEN1 TEP1 Phosphatase and tensin homolog hrdo:gen_id_15167 PTF1A ENSG00000168267 PTF1A 23734 607194 Q7RTS3 Q7RTS3 PTF1-p48 Pancreas specific transcription factor, 1a hrdo:gen_id_15168 PTH ENSG00000152266 PTH 9606 168450 P01270 P01270 Parathyroid hormone hrdo:gen_id_15169 PTH1R ENSG00000160801 PTH1R 9608 331 168468 Q03431 Q03431 PTHR PTHR1 Parathyroid hormone 1 receptor hrdo:gen_id_15170 PTPN11 ENSG00000179295 PTPN11 9644 176876 Q06124 Q06124 BPTP3 NS1 PTP2C SH-PTP2 SHP-2 SHP2 Protein tyrosine phosphatase, non-receptor type 11 hrdo:gen_id_15171 PTPRC ENSG00000081237 PTPRC 9666 151460 P08575 P08575 CD45 GP180 LCA T200 Protein tyrosine phosphatase, receptor type, C hrdo:gen_id_15172 PTS ENSG00000150787 PTS 9689 261640 Q03393 Q03393 PTPS 6-pyruvoyltetrahydropterin synthase hrdo:gen_id_15173 PUS1 ENSG00000177192 PUS1 15508 608109 Q9Y606 Pseudouridylate synthase 1 hrdo:gen_id_15174 PVRL1 ENSG00000110400 PVRL1 9706 600644 Q15223 Q15223 CD111 CLPED1 ED4 HIgR HVEC OFC7 PRR PRR1 PVRR1 SK-12 Poliovirus receptor-related 1 (herpesvirus entry mediator C) hrdo:gen_id_15175 PEX2 ENSG00000164751 PXMP3 9717 170993 P28328 PAF-1 PMP35 PXMP3 RNF72 ZWS3 Peroxisomal biogenesis factor 2 hrdo:gen_id_15176 PYGL ENSG00000100504 PYGL 9725 613741 P06737 P06737 Phosphorylase, glycogen; liver (Hers disease, glycogen storage disease type VI) hrdo:gen_id_15177 PYGM ENSG00000068976 PYGM 9726 608455 P11217 P11217 Phosphorylase, glycogen; muscle (McArdle syndrome, glycogen storage disease type V) hrdo:gen_id_15178 QDPR ENSG00000151552 QDPR 9752 612676 P09417 P09417 DHPR PKU2 Quinoid dihydropteridine reductase hrdo:gen_id_15179 RAB27A ENSG00000069974 RAB27A 9766 603868 P51159 P51159 GS2 HsT18676 RAB27 RAM RAB27A, member RAS oncogene family hrdo:gen_id_15180 RAB3GAP1 ENSG00000115839 RAB3GAP1 17063 602536 Q15042 KIAA0066 RAB3GAP RAB3GAP130 WARBM1 RAB3 GTPase activating protein subunit 1 (catalytic) hrdo:gen_id_15181 RAB3GAP2 ENSG00000118873 RAB3GAP2 17168 609275 Q9H2M9 DKFZP434D245 KIAA0839 RAB3-GAP150 RAB3 GTPase activating protein subunit 2 (non-catalytic) hrdo:gen_id_15182 RAB7A ENSG00000075785 RAB7A 9788 602298 P51149 RAB7 RAB7A, member RAS oncogene family hrdo:gen_id_15183 RAD51 ENSG00000051180 RAD51 9817 179617 Q06609 Q06609 BRCC5 HsRad51 HsT16930 RAD51A RECA RAD51 homolog (RecA homolog, E. coli) (S. cerevisiae) hrdo:gen_id_15184 RAG1 ENSG00000166349 RAG1 9831 179615 P15918 RNF74 Recombination activating gene 1 hrdo:gen_id_15185 RAG2 ENSG00000175097 RAG2 9832 179616 P55895 Recombination activating gene 2 hrdo:gen_id_15186 RAI1 ENSG00000108557 RAI1 9834 607642 Q7Z5J4 DKFZP434A139 KIAA1820 MGC12824 SMCR SMS Retinoic acid induced 1 hrdo:gen_id_15187 RAPSN ENSG00000165917 RAPSN 9863 601592 Q13702 CMS1D CMS1E RNF205 Receptor-associated protein of the synapse hrdo:gen_id_15188 RARA ENSG00000131759 RARA 9864 590 180240 P10276 P10276 NR1B1 RAR Retinoic acid receptor, alpha hrdo:gen_id_15189 RASA1 ENSG00000145715 RASA1 9871 139150 P20936 P20936 CM-AVM GAP RASA RAS p21 protein activator (GTPase activating protein) 1 hrdo:gen_id_15191 RB1 ENSG00000139687 RB1 9884 614041 P06400 P06400 OSRC Retinoblastoma 1 (including osteosarcoma) hrdo:gen_id_15193 RD3 ENSG00000198570 RD3 19689 180040 Q7Z3Z2 C1orf36 LCA12 Retinal degeneration 3 hrdo:gen_id_15194 RDH12 ENSG00000139988 RDH12 19977 608830 Q96NR8 FLJ30273 Retinol dehydrogenase 12 (all-trans/9-cis/11-cis) hrdo:gen_id_15195 RDH5 ENSG00000135437 RDH5 9940 601617 Q92781 HSD17B9 RDH1 Retinol dehydrogenase 5 (11-cis/9-cis) hrdo:gen_id_15196 RECQL4 ENSG00000160957 RECQL4 9949 603780 O94761 RecQ4 RecQ protein-like 4 hrdo:gen_id_15197 REEP1 ENSG00000068615 REEP1 25786 609139 Q9H902 C2orf23 FLJ13110 SPG31 Receptor accessory protein 1 hrdo:gen_id_15198 REG1A ENSG00000115386 REG1A 9951 167770 P05451 PSP PSPS PSPS1 PTP REG Regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein) hrdo:gen_id_15199 RELN ENSG00000189056 RELN 9957 600514 P78509 Reelin hrdo:gen_id_15200 RET ENSG00000165731 RET 9967 164761 P07949 CDHF12 HSCR1 MEN2A MEN2B MTC1 PTC RET51 Ret proto-oncogene hrdo:gen_id_15201 RFC2 ENSG00000049541 RFC2 9970 600404 P35250 P35250 A1 Replication factor C (activator 1) 2, 40kDa hrdo:gen_id_15202 RFX5 ENSG00000143390 RFX5 9986 601863 P48382 Regulatory factor X, 5 (influences HLA class II expression) hrdo:gen_id_15203 RFXANK ENSG00000064490 RFXANK 9987 603200 O14593 ANKRA1 BLS RFX-B Regulatory factor X-associated ankyrin-containing protein hrdo:gen_id_15204 RFXAP ENSG00000133111 RFXAP 9988 601861 O00287 Regulatory factor X-associated protein hrdo:gen_id_15205 RGR ENSG00000148604 RGR 9990 600342 P47804 P47804 Retinal G protein coupled receptor hrdo:gen_id_15206 RGS4 ENSG00000117152 RGS4 10000 602516 P49798 P49798 Regulator of G-protein signalling 4 hrdo:gen_id_15207 RGS9 ENSG00000108370 RGS9 10004 604067 O75916 O75916 Regulator of G-protein signalling 9 hrdo:gen_id_15208 RGS9BP ENSG00000186326 RGS9BP 30304 607814 Q6ZS82 FLJ45744 PERRS R9AP RGS9 Regulator of G protein signalling 9 binding protein hrdo:gen_id_15209 RHAG ENSG00000112077 RHAG 10006 180297 Q02094 Q02094 CD241 RH50A Rh-associated glycoprotein hrdo:gen_id_15210 RHCE ENSG00000188672 RHCE 10008 111700 P18577 CD240CE RH Rh blood group, CcEe antigens hrdo:gen_id_15211 RHO ENSG00000163914 RHO 10012 180380 P08100 P08100 OPN2 RP4 Rhodopsin (opsin 2, rod pigment) (retinitis pigmentosa 4, autosomal dominant) hrdo:gen_id_15212 RIMS1 ENSG00000079841 RIMS1 17282 606629 Q86UR5 Q86UR5 CORD7 KIAA0340 RAB3IP2 RIM RIM1 Regulating synaptic membrane exocytosis 1 hrdo:gen_id_15213 RLBP1 ENSG00000140522 RLBP1 10024 180090 P12271 CRALBP Retinaldehyde binding protein 1 hrdo:gen_id_15214 RNASEH2A ENSG00000104889 RNASEH2A 18518 606034 O75792 AGS4 RNASEHI RNHIA RNHL Ribonuclease H2, subunit A hrdo:gen_id_15215 RNASEH2B ENSG00000136104 RNASEH2B 25671 610326 Q5TBB1 AGS2 DLEU8 FLJ11712 Ribonuclease H2, subunit B hrdo:gen_id_15216 RNASEH2C ENSG00000172922 RNASEH2C 24116 610330 Q8TDP1 AGS3 AYP1 Ribonuclease H2, subunit C hrdo:gen_id_15217 RNASEL ENSG00000135828 RNASEL 10050 180435 Q05823 Q05823 RNS4 Ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) hrdo:gen_id_15218 RNF139 ENSG00000170881 RNF139 17023 603046 Q8WU17 HRCA1 RCA1 TRC8 Ring finger protein 139 hrdo:gen_id_15219 ROBO3 ENSG00000154134 ROBO3 13433 608630 Q96MS0 Q96MS0 FLJ21044 HGPPS HGPS RBIG1 Roundabout, axon guidance receptor, homolog 3 (Drosophila) hrdo:gen_id_15220 ROM1 ENSG00000149489 ROM1 10254 180721 Q03395 ROM TSPAN23 Retinal outer segment membrane protein 1 hrdo:gen_id_15221 ROR2 ENSG00000169071 ROR2 10257 602337 Q01974 BDB BDB1 NTRKR2 Receptor tyrosine kinase-like orphan receptor 2 hrdo:gen_id_15222 RP1 ENSG00000104237 RP1 10263 603937 P56715 DCDC4A Retinitis pigmentosa 1 (autosomal dominant) hrdo:gen_id_15223 RP2 ENSG00000102218 RP2 10274 300757 O75695 TBCCD2 Retinitis pigmentosa 2 (X-linked recessive) hrdo:gen_id_15224 RP9 ENSG00000164610 RP9 10288 607331 Q8TA86 PAP-1 Retinitis pigmentosa 9 (autosomal dominant) hrdo:gen_id_15225 RPE65 ENSG00000116745 RPE65 10294 180069 Q16518 LCA2 RP20 rd12 Retinal pigment epithelium-specific protein 65kDa hrdo:gen_id_15226 RPGR ENSG00000156313 RPGR 10295 312610 Q92834 COD1 CORDX1 CRD RP15 RP3 Retinitis pigmentosa GTPase regulator hrdo:gen_id_15227 RPGRIP1 ENSG00000092200 RPGRIP1 13436 605446 Q96KN7 LCA6 RGI1 RPGRIP Retinitis pigmentosa GTPase regulator interacting protein 1 hrdo:gen_id_15228 RPL10 ENSG00000147403 RPL10 10298 312173 P27635 P27635 DXS648 DXS648E FLJ23544 NOV QM Ribosomal protein L10 hrdo:gen_id_15229 RPS19 ENSG00000105372 RPS19 10402 603474 P39019 P39019 DBA Ribosomal protein S19 hrdo:gen_id_15230 RPS24 ENSG00000138326 RPS24 10411 602412 P62847 P62847 Ribosomal protein S24 hrdo:gen_id_15231 RPS6KA3 ENSG00000177189 RPS6KA3 10432 300075 P51812 P51812 HU-3 MRX19 RSK RSK2 Ribosomal protein S6 kinase, 90kDa, polypeptide 3 hrdo:gen_id_15232 RS1 ENSG00000102104 RS1 10457 300839 O15537 RS XLRS1 Retinoschisis (X-linked, juvenile) 1 hrdo:gen_id_15233 RSPO1 ENSG00000169218 RSPO1 21679 609595 Q2MKA7 FLJ40906 RSPONDIN R-spondin homolog (Xenopus laevis) hrdo:gen_id_15234 RSPO4 ENSG00000101282 RSPO4 16175 610573 Q2I0M5 C20orf182 dJ824F16.3 R-spondin family, member 4 hrdo:gen_id_15235 RUNX1 ENSG00000159216 RUNX1 10471 151385 Q01196 AML1 AMLCR1 CBFA2 PEBP2A2 'Runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene)' hrdo:gen_id_15236 RUNX2 ENSG00000124813 RUNX2 10472 600211 Q13950 Q13950 AML3 CBFA1 CCD CCD1 PEBP2A1 PEBP2aA1 Runt-related transcription factor 2 hrdo:gen_id_15237 RYR1 ENSG00000196218 RYR1 10483 180901 P21817 CCO MHS MHS1 RYR Ryanodine receptor 1 (skeletal) hrdo:gen_id_15238 RYR2 ENSG00000198626 RYR2 10484 180902 Q92736 Ryanodine receptor 2 (cardiac) hrdo:gen_id_15239 SACS ENSG00000151835 SACS 10519 604490 Q9NZJ4 ARSACS KIAA0730 Spastic ataxia of Charlevoix-Saguenay (sacsin) hrdo:gen_id_15240 SAG ENSG00000130561 SAG 10521 181031 P10523 'S-antigen; retina and pineal gland (arrestin)' hrdo:gen_id_15241 SALL1 ENSG00000103449 SALL1 10524 602218 Q9NSC2 Hsal1 TBS ZNF794 Sal-like 1 (Drosophila) hrdo:gen_id_15242 SALL4 ENSG00000101115 SALL4 15924 607343 Q9UJQ4 ZNF797 dJ1112F19.1 Sal-like 4 (Drosophila) hrdo:gen_id_15243 SAMD9 ENSG00000205413 SAMD9 1348 610456 Q5K651 C7orf5 FLJ20073 KIAA2004 Sterile alpha motif domain containing 9 hrdo:gen_id_15244 SAR1B ENSG00000152700 SAR1B 10535 607690 Q9Y6B6 Q9Y6B6 SARA2 SAR1 gene homolog B (S. cerevisiae) hrdo:gen_id_15245 SARDH ENSG00000123453 SARDH 10536 604455 Q9UL12 DMGDHL1 SDH Sarcosine dehydrogenase hrdo:gen_id_15246 SAT1 ENSG00000130066 SAT1 10540 313020 P21673 P21673 SAT SSAT Spermidine/spermine N1-acetyltransferase 1 hrdo:gen_id_15247 SBDS ENSG00000126524 SBDS 19440 607444 Q9Y3A5 CGI-97 FLJ10917 SDS SWDS Shwachman-Bodian-Diamond syndrome hrdo:gen_id_15248 SBF2 ENSG00000133812 SBF2 2135 607697 Q86WG5 CMT4B2 KIAA1766 MTMR13 SET binding factor 2 hrdo:gen_id_15249 SC5DL ENSG00000109929 SC5DL 10547 602286 O75845 O75845 Sterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. cerevisiae)-like hrdo:gen_id_15250 SCN1A ENSG00000144285 SCN1A 10585 578 182389 P35498 P35498 FEB3 GEFSP2 HBSCI NAC1 Nav1.1 SCN1 SMEI Sodium channel, voltage-gated, type I, alpha subunit hrdo:gen_id_15251 SCN1B ENSG00000105711 SCN1B 10586 600235 Q07699 Q07699 Sodium channel, voltage-gated, type I, beta hrdo:gen_id_15252 SCN2A ENSG00000136531 SCN2A 10588 579 182390 Q99250 Q99250 HBSCI HBSCII Nav1.2 SCN2A1 SCN2A2 Sodium channel, voltage-gated, type II, alpha subunit hrdo:gen_id_15253 SCN4A ENSG00000007314 SCN4A 10591 581 603967 P35499 P35499 HYKPP HYPP Nav1.4 SkM1 Sodium channel, voltage-gated, type IV, alpha subunit hrdo:gen_id_15254 SCN5A ENSG00000183873 SCN5A 10593 582 600163 Q14524 Q14524 CDCD2 CMD1E CMPD2 HB1 HB2 HH1 IVF LQT3 Nav1.5 SSS1 Sodium channel, voltage-gated, type V, alpha subunit hrdo:gen_id_15255 SCN9A ENSG00000169432 SCN9A 10597 584 603415 Q15858 Q15858 ETHA NE-NA NENA Nav1.7 PN1 Sodium channel, voltage-gated, type IX, alpha subunit hrdo:gen_id_15256 SCNN1A ENSG00000111319 SCNN1A 10599 600228 P37088 ENaCalpha SCNN1 Sodium channel, nonvoltage-gated 1 alpha hrdo:gen_id_15257 SCNN1B ENSG00000168447 SCNN1B 10600 600760 P51168 ENaCbeta Sodium channel, nonvoltage-gated 1, beta (Liddle syndrome) hrdo:gen_id_15258 SCNN1G ENSG00000166828 SCNN1G 10602 600761 P51170 ENaCgamma SCNEG Sodium channel, nonvoltage-gated 1, gamma hrdo:gen_id_15259 SCO1 ENSG00000133028 SCO1 10603 603644 O75880 SCOD1 SCO cytochrome oxidase deficient homolog 1 (yeast) hrdo:gen_id_15260 SCO2 ENSG00000130489 SCO2 10604 604272 O43819 SCO1L SCO cytochrome oxidase deficient homolog 2 (yeast) hrdo:gen_id_15261 SDHA ENSG00000073578 SDHA 10680 600857 P31040 P31040 FP SDH2 SDHF Succinate dehydrogenase complex, subunit A, flavoprotein (Fp) hrdo:gen_id_15262 SDHB ENSG00000117118 SDHB 10681 185470 P21912 P21912 SDH SDH1 Succinate dehydrogenase complex, subunit B, iron sulfur (Ip) hrdo:gen_id_15263 SDHC ENSG00000143252 SDHC 10682 602413 Q99643 Q99643 PGL3 Succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa hrdo:gen_id_15264 SDHD ENSG00000204370 SDHD 10683 602690 O14521 O14521 PGL PGL1 Succinate dehydrogenase complex, subunit D, integral membrane protein hrdo:gen_id_15265 SEC23A ENSG00000100934 SEC23A 10701 610511 Q15436 Q15436 Sec23 homolog A (S. cerevisiae) hrdo:gen_id_15266 SEC63 ENSG00000025796 SEC63 21082 608648 Q9UGP8 ERdj2 PRO2507 SEC63L SEC63 homolog (S. cerevisiae) hrdo:gen_id_15267 SELE ENSG00000007908 SELE 10718 131210 P16581 CD62E ELAM ELAM1 ESEL Selectin E (endothelial adhesion molecule 1) hrdo:gen_id_15268 SELL ENSG00000188404 SELL 10720 153240 P14151 P14151 CD62L LAM-1 LAM1 LNHR LSEL LYAM1 Leu-8 Lyam-1 PLNHR hLHRc Selectin L (lymphocyte adhesion molecule 1) hrdo:gen_id_15269 SEMA3E ENSG00000170381 SEMA3E 10727 608166 O15041 O15041 KIAA0331 M-SemaK SEMAH coll-5 Sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E hrdo:gen_id_15270 SEPN1 ENSG00000162430 SEPN1 15999 606210 Q9NZV5 MDRS1 RSMD1 RSS selN Selenoprotein N, 1 hrdo:gen_id_15271 SERPINA1 ENSG00000197249 SERPINA1 8941 107400 P01009 P01009 A1A AAT PI PI1 alpha-1-antitrypsin Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 hrdo:gen_id_15272 SERPINC1 ENSG00000117601 SERPINC1 775 107300 P01008 P01008 AT3 ATIII Serpin peptidase inhibitor, clade C (antithrombin), member 1 hrdo:gen_id_15273 SERPINE1 ENSG00000106366 SERPINE1 8583 173360 P05121 P05121 PAI PAI1 PLANH1 Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 hrdo:gen_id_15274 SERPING1 ENSG00000149131 SERPING1 1228 606860 P05155 P05155 C1-INH C1IN C1NH Serpin peptidase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary) hrdo:gen_id_15275 SERPINI1 ENSG00000163536 SERPINI1 8943 602445 Q99574 PI12 neuroserpin Serpin peptidase inhibitor, clade I (neuroserpin), member 1 hrdo:gen_id_15276 SETX ENSG00000107290 SETX 445 608465 Q7Z333 ALS4 AOA2 KIAA0625 SCAR1 Senataxin hrdo:gen_id_15277 SFTPA1 ENSG00000122852 SFTPA1 10798 178630 Q8IWL2 Q8IWL2 COLEC4 SFTP1 SP-A SP-A1 Surfactant, pulmonary-associated protein A1 hrdo:gen_id_15278 SFTPB ENSG00000168878 SFTPB 10801 178640 P07988 SFTP3 SP-B Surfactant, pulmonary-associated protein B hrdo:gen_id_15279 SFTPC ENSG00000168484 SFTPC 10802 178620 P11686 SFTP2 SP-C Surfactant, pulmonary-associated protein C hrdo:gen_id_15280 SGCA ENSG00000108823 SGCA 10805 600119 Q16586 ADL LGMD2D SCARMD1 adhalin Sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) hrdo:gen_id_15281 SGCB ENSG00000163069 SGCB 10806 600900 Q16585 A3b LGMD2E SGC Sarcoglycan, beta (43kDa dystrophin-associated glycoprotein) hrdo:gen_id_15282 SGCD ENSG00000170624 SGCD 10807 601411 Q92629 CMD1L DAGD LGMD2F Sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) hrdo:gen_id_15283 SGCE ENSG00000127990 SGCE 10808 604149 O43556 DYT11 Sarcoglycan, epsilon hrdo:gen_id_15284 SGCG ENSG00000102683 SGCG 10809 608896 Q13326 A4 DAGA4 DMDA1 LGMD2C MAM SCARMD2 Sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) hrdo:gen_id_15285 SGSH ENSG00000181523 SGSH 10818 605270 P51688 HSS MPS3A SFMD N-sulfoglucosamine sulfohydrolase (sulfamidase) hrdo:gen_id_15286 SH2D1A ENSG00000183918 SH2D1A 10820 300490 O60880 DSHP EBVS IMD5 LYP MTCP1 SAP XLP XLPD SH2 domain protein 1A, Duncan's disease (lymphoproliferative syndrome) hrdo:gen_id_15287 SH3BP2 ENSG00000087266 SH3BP2 10825 602104 P78314 CRBM RES4-23 SH3-domain binding protein 2 hrdo:gen_id_15288 SH3TC2 ENSG00000169247 SH3TC2 29427 608206 Q8TF17 CMT4C KIAA1985 SH3 domain and tetratricopeptide repeats 2 hrdo:gen_id_15289 SHANK3 ENSG00000251322 SHANK3 14294 606230 Q9BYB0 KIAA1650 PSAP2 SPANK-2 prosap2 SH3 and multiple ankyrin repeat domains 3 hrdo:gen_id_15290 SHH ENSG00000164690 SHH 10848 600725 Q15465 Q15465 HLP3 HPE3 Sonic hedgehog homolog (Drosophila) hrdo:gen_id_15291 SHOX ENSG00000185960 SHOX 10853 312865 O15266 GCFX PHOG SHOXY SS Short stature homeobox hrdo:gen_id_15292 SHROOM4 ENSG00000158352 SHROOM4 29215 300579 Q9ULL8 KIAA1202 Shroom family member 4 hrdo:gen_id_15293 SI ENSG00000090402 SI 10856 609845 P14410 P14410 Sucrase-isomaltase (alpha-glucosidase) hrdo:gen_id_15294 SIL1 ENSG00000120725 SIL1 24624 608005 Q9H173 BAP MSS ULG5 SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae) hrdo:gen_id_15295 SIX1 ENSG00000126778 SIX1 10887 601205 Q15475 SIX homeobox 1 hrdo:gen_id_15296 SIX3 ENSG00000138083 SIX3 10889 603714 O95343 HPE2 SIX homeobox 3 hrdo:gen_id_15297 SIX6 ENSG00000184302 SIX6 10892 606326 O95475 OPTX2 Six9 SIX homeobox 6 hrdo:gen_id_15298 SLC11A2 ENSG00000110911 SLC11A2 10908 600523 P49281 P49281 DCT1 DMT1 NRAMP2 Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2 hrdo:gen_id_15299 SLC12A1 ENSG00000074803 SLC12A1 10910 600839 Q13621 Q13621 NKCC2 Solute carrier family 12 (sodium/potassium/chloride transporters), member 1 hrdo:gen_id_15300 SLC12A3 ENSG00000070915 SLC12A3 10912 600968 P55017 P55017 Solute carrier family 12 (sodium/chloride transporters), member 3 hrdo:gen_id_15301 SLC12A6 ENSG00000140199 SLC12A6 10914 604878 Q9UHW9 Q9UHW9 ACCPN KCC3 Solute carrier family 12 (potassium/chloride transporters), member 6 hrdo:gen_id_15302 SLC16A2 ENSG00000147100 SLC16A2 10923 300095 P36021 AHDS DXS128 MCT7 MCT8 XPCT Solute carrier family 16, member 2 (monocarboxylic acid transporter 8) hrdo:gen_id_15303 SLC17A5 ENSG00000119899 SLC17A5 10933 604322 Q9NRA2 Q9NRA2 AST ISSD NSD SD SIALIN SIASD SLD Solute carrier family 17 (anion/sugar transporter), member 5 hrdo:gen_id_15304 SLC19A2 ENSG00000117479 SLC19A2 10938 603941 O60779 O60779 THTR1 TRMA Solute carrier family 19 (thiamine transporter), member 2 hrdo:gen_id_15305 SLC19A3 ENSG00000135917 SLC19A3 16266 606152 Q9BZV2 Q9BZV2 Solute carrier family 19, member 3 hrdo:gen_id_15307 SLC22A4 ENSG00000197208 SLC22A4 10968 604190 Q9H015 Q9H015 MGC34546 OCTN1 Solute carrier family 22 (organic cation transporter), member 4 hrdo:gen_id_15308 SLC22A5 ENSG00000197375 SLC22A5 10969 603377 O76082 O76082 CDSP OCTN2 SCD Solute carrier family 22 (organic cation transporter), member 5 hrdo:gen_id_15309 SLC25A13 ENSG00000004864 SLC25A13 10983 603859 Q9UJS0 Q9UJS0 CTLN2 Solute carrier family 25, member 13 (citrin) hrdo:gen_id_15310 SLC25A15 ENSG00000102743 SLC25A15 10985 603861 Q9Y619 Q9Y619 D13S327 HHH ORNT1 'Solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15' hrdo:gen_id_15311 SLC25A19 ENSG00000125454 SLC25A19 14409 606521 Q9HC21 DNC MUP1 TPC Solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 hrdo:gen_id_15312 SLC25A20 ENSG00000178537 SLC25A20 1421 613698 O43772 O43772 CAC CACT Solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 hrdo:gen_id_15313 SLC25A22 ENSG00000177542 SLC25A22 19954 609302 Q9H936 FLJ13044 GC1 Solute carrier family 25 (mitochondrial carrier: glutamate), member 22 hrdo:gen_id_15314 SLC25A4 ENSG00000151729 SLC25A4 10990 103220 P12235 P12235 ANT1 PEO2 PEO3 T1 Solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 hrdo:gen_id_15315 SLC26A2 ENSG00000155850 SLC26A2 10994 606718 P50443 P50443 DTD DTDST Solute carrier family 26 (sulfate transporter), member 2 hrdo:gen_id_15316 SLC26A3 ENSG00000091138 SLC26A3 3018 126650 P40879 P40879 CLD DRA Solute carrier family 26, member 3 hrdo:gen_id_15317 SLC26A4 ENSG00000091137 SLC26A4 8818 605646 O43511 O43511 DFNB4 PDS Solute carrier family 26, member 4 hrdo:gen_id_15318 SLC2A10 ENSG00000197496 SLC2A10 13444 606145 O95528 O95528 GLUT10 Solute carrier family 2 (facilitated glucose transporter), member 10 hrdo:gen_id_15319 SLC2A2 ENSG00000163581 SLC2A2 11006 138160 P11168 P11168 GLUT2 Solute carrier family 2 (facilitated glucose transporter), member 2 hrdo:gen_id_15320 SLC34A2 ENSG00000157765 SLC34A2 11020 604217 O95436 O95436 NAPI-3B Solute carrier family 34 (sodium phosphate), member 2 hrdo:gen_id_15321 SLC34A3 ENSG00000198569 SLC34A3 20305 609826 Q8N130 Q8N130 FLJ38680 NPTIIc Solute carrier family 34 (sodium phosphate), member 3 hrdo:gen_id_15322 SLC35C1 ENSG00000181830 SLC35C1 20197 605881 Q96A29 Q96A29 FLJ11320 FUCT1 Solute carrier family 35, member C1 hrdo:gen_id_15323 ATP2A1 ENSG00000196296 ATP2A1 811 108730 O14983 O14983 ATP2A SERCA1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 hrdo:gen_id_15324 ATP2A2 ENSG00000174437 ATP2A2 812 108740 P16615 P16615 ATP2B DAR SERCA2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 hrdo:gen_id_15325 ATP2C1 ENSG00000017260 ATP2C1 13211 604384 P98194 P98194 ATP2C1A BCPM KIAA1347 PMR1 ATPase, Ca++ transporting, type 2C, member 1 hrdo:gen_id_15326 ATP6AP2 ENSG00000182220 ATP6AP2 18305 300556 O75787 APT6M8-9 ATP6IP2 ATP6M8-9 M8-9 ATPase, H+ transporting, lysosomal accessory protein 2 hrdo:gen_id_15327 ATP6V0A4 ENSG00000105929 ATP6V0A4 866 605239 Q9HBG4 Q9HBG4 ATP6N1B ATP6N2 RDRTA2 RTA1C RTADR Stv1 VPP2 Vph1 a4 ATPase, H+ transporting, lysosomal V0 subunit a4 hrdo:gen_id_15328 ATP6V1B1 ENSG00000116039 ATP6V1B1 853 192132 P15313 P15313 ATP6B1 RTA1B VATB VPP3 Vma2 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (Renal tubular acidosis with deafness) hrdo:gen_id_15329 ATP7A ENSG00000165240 ATP7A 869 300011 Q04656 Q04656 MNK ATPase, Cu++ transporting, alpha polypeptide (Menkes syndrome) hrdo:gen_id_15330 ATP7B ENSG00000123191 ATP7B 870 606882 P35670 P35670 WND ATPase, Cu++ transporting, beta polypeptide hrdo:gen_id_15331 ATP8B1 ENSG00000081923 ATP8B1 3706 602397 O43520 O43520 ATPIC BRIC FIC1 PFIC PFIC1 ATPase, Class I, type 8B, member 1 hrdo:gen_id_15332 ATPAF2 ENSG00000171953 ATPAF2 18802 608918 Q8N5M1 ATP12 Atp12p ATP synthase mitochondrial F1 complex assembly factor 2 hrdo:gen_id_15333 ATR ENSG00000175054 ATR 882 601215 Q13535 Q13535 FRP1 MEC1 SCKL SCKL1 Ataxia telangiectasia and Rad3 related hrdo:gen_id_15335 ATRX ENSG00000085224 ATRX 886 300032 P46100 RAD54 XH2 XNP Alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae) hrdo:gen_id_15336 ATXN1 ENSG00000124788 ATXN1 10548 601556 P54253 ATX1 D6S504E SCA1 Ataxin 1 hrdo:gen_id_15337 ATXN10 ENSG00000130638 ATXN10 10549 611150 Q9UBB4 E46L FLJ37990 SCA10 Ataxin 10 hrdo:gen_id_15338 ATXN2 ENSG00000204842 ATXN2 10555 601517 Q99700 ATX2 SCA2 TNRC13 Ataxin 2 hrdo:gen_id_15339 ATXN3 ENSG00000066427 ATXN3 7106 607047 P54252 ATX3 JOS MJD SCA3 Ataxin 3 hrdo:gen_id_15340 ATXN7 ENSG00000163635 ATXN7 10560 607640 O15265 ADCAII OPCA3 SCA7 Ataxin 7 hrdo:gen_id_15341 ATXN8 ATXN8 32925 613289 Q156A1 SCA8 Ataxin 8 hrdo:gen_id_15342 AUH ENSG00000148090 AUH 890 600529 Q13825 Q13825 AU RNA binding protein/enoyl-Coenzyme A hydratase hrdo:gen_id_15343 AVP ENSG00000101200 AVP 894 192340 P01185 P01185 ADH ARVP Arginine vasopressin (neurophysin II, antidiuretic hormone, diabetes insipidus, neurohypophyseal) hrdo:gen_id_15344 AVPR2 ENSG00000126895 AVPR2 897 368 300538 P30518 P30518 DIR DIR3 V2R Arginine vasopressin receptor 2 (nephrogenic diabetes insipidus) hrdo:gen_id_15346 AXIN2 ENSG00000168646 AXIN2 904 604025 Q9Y2T1 Axin 2 (conductin, axil) hrdo:gen_id_15348 B3GALTL ENSG00000187676 B3GALTL 20207 610308 Q6Y288 B3GTL B3Glc-T Beta 1,3-galactosyltransferase-like hrdo:gen_id_15349 B4GALT1 ENSG00000086062 B4GALT1 924 137060 P15291 P15291 GGTB2 beta4Gal-T1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 hrdo:gen_id_15350 B4GALT7 ENSG00000027847 B4GALT7 930 604327 Q9UBV7 XGALT-1 beta4Gal-T7 Xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I) hrdo:gen_id_15351 BAZ1B ENSG00000009954 BAZ1B 961 605681 Q9UIG0 WBSCR10 WBSCR9 WSTF Bromodomain adjacent to zinc finger domain, 1B hrdo:gen_id_15352 BBS1 ENSG00000174483 BBS1 966 209901 Q8NFJ9 FLJ23590 Bardet-Biedl syndrome 1 hrdo:gen_id_15353 BBS10 ENSG00000179941 BBS10 26291 610148 Q8TAM1 C12orf58 FLJ23560 Bardet-Biedl syndrome 10 hrdo:gen_id_15354 BBS2 ENSG00000125124 BBS2 967 606151 Q9BXC9 BBS Bardet-Biedl syndrome 2 hrdo:gen_id_15355 BBS4 ENSG00000140463 BBS4 969 600374 Q96RK4 Bardet-Biedl syndrome 4 hrdo:gen_id_15356 BBS5 ENSG00000163093 BBS5 970 603650 Q8N3I7 DKFZp762I194 Bardet-Biedl syndrome 5 hrdo:gen_id_15357 BBS7 ENSG00000138686 BBS7 18758 607590 Q8IWZ6 BBS2L1 FLJ10715 Bardet-Biedl syndrome 7 hrdo:gen_id_15358 BBS9 ENSG00000122507 BBS9 30000 607968 Q3SYG4 B1 PTHB1 Bardet-Biedl syndrome 9 hrdo:gen_id_15359 BCHE ENSG00000114200 BCHE 983 177400 P06276 P06276 CHE1 E1 Butyrylcholinesterase hrdo:gen_id_15360 BCKDHA ENSG00000248098 BCKDHA 986 608348 P12694 P12694 MSU Branched chain keto acid dehydrogenase E1, alpha polypeptide hrdo:gen_id_15361 BCKDHB ENSG00000083123 BCKDHB 987 248611 P21953 P21953 Branched chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease) hrdo:gen_id_15362 BCL2 ENSG00000171791 BCL2 990 151430 P10415 P10415 Bcl-2 B-cell CLL/lymphoma 2 hrdo:gen_id_15363 BCL7B ENSG00000106635 BCL7B 1005 605846 Q9BQE9 B-cell CLL/lymphoma 7B hrdo:gen_id_15364 BCOR ENSG00000183337 BCOR 20893 300485 Q6W2J9 FLJ20285 KIAA1575 BCL6 co-repressor hrdo:gen_id_15365 BCR ENSG00000186716 BCR 1014 151410 P11274 P11274 BCR1 D22S11 D22S662 Breakpoint cluster region hrdo:gen_id_15366 BCS1L ENSG00000074582 BCS1L 1020 603647 Q9Y276 Q9Y276 BCS BJS Hs.6719 h-BCS BCS1-like hrdo:gen_id_15367 BDNF ENSG00000176697 BDNF 1033 113505 P23560 Brain-derived neurotrophic factor hrdo:gen_id_15368 BEST1 ENSG00000167995 BEST1 12703 607854 O76090 BEST BMD VMD2 Bestrophin 1 hrdo:gen_id_15369 BFSP2 ENSG00000170819 BFSP2 1041 603212 Q13515 CP47 CP49 LIFL-L phakinin Beaded filament structural protein 2, phakinin hrdo:gen_id_15371 BLOC1S3 ENSG00000189114 BLOC1S3 20914 609762 Q6QNY0 Q6QNY0 BLOS3 Biogenesis of lysosome-related organelles complex-1, subunit 3 hrdo:gen_id_15372 BMPR1A ENSG00000107779 BMPR1A 1076 601299 P36894 P36894 ACVRLK3 ALK3 CD292 Bone morphogenetic protein receptor, type IA hrdo:gen_id_15373 BMPR1B ENSG00000138696 BMPR1B 1077 603248 O00238 O00238 ALK6 CDw293 Bone morphogenetic protein receptor, type IB hrdo:gen_id_15374 BMPR2 ENSG00000204217 BMPR2 1078 600799 Q13873 Q13873 BMPR-II BMPR3 BRK-3 PPH1 T-ALK Bone morphogenetic protein receptor, type II (serine/threonine kinase) hrdo:gen_id_15375 BPGM ENSG00000172331 BPGM 1093 613896 P07738 2,3-bisphosphoglycerate mutase hrdo:gen_id_15376 BRAF ENSG00000157764 BRAF 1097 164757 P15056 P15056 V-raf murine sarcoma viral oncogene homolog B1 hrdo:gen_id_15377 BRCA1 ENSG00000012048 BRCA1 1100 113705 P38398 P38398 BRCC1 RNF53 Breast cancer 1, early onset hrdo:gen_id_15378 BRCA2 ENSG00000139618 BRCA2 1101 600185 P51587 P51587 BRCC2 FACD FAD FAD1 FANCD FANCD1 Breast cancer 2, early onset hrdo:gen_id_15379 BRIP1 ENSG00000136492 BRIP1 20473 605882 Q9BX63 Q9BX63 BACH1 FANCJ OF BRCA1 interacting protein C-terminal helicase 1 hrdo:gen_id_15380 BSCL2 ENSG00000168000 BSCL2 15832 606158 Q96G97 GNG3LG SPG17 Bernardinelli-Seip congenital lipodystrophy 2 (seipin) hrdo:gen_id_15381 BSND ENSG00000162399 BSND 16512 606412 Q8WZ55 BART Bartter syndrome, infantile, with sensorineural deafness (Barttin) hrdo:gen_id_15382 BTD ENSG00000169814 BTD 1122 609019 P43251 Biotinidase hrdo:gen_id_15383 BTK ENSG00000010671 BTK 1133 300300 Q06187 Q06187 AGMX1 ATK IMD1 PSCTK1 XLA Bruton agammaglobulinemia tyrosine kinase hrdo:gen_id_15384 BUB1B ENSG00000156970 BUB1B 1149 602860 O60566 O60566 BUBR1 Bub1A MAD3L BUB1 budding uninhibited by benzimidazoles 1 homolog beta (yeast) hrdo:gen_id_15385 C2 ENSG00000166278 C2 1248 613927 P06681 P06681 Complement component 2 hrdo:gen_id_15387 MPLKIP ENSG00000168303 C7orf11 16002 609188 Q8TAP9 C7orf11 Chromosome 7 open reading frame 11 Non-photosensitive 1 ORF20 TTDN1 M-phase specific PLK1 interacting protein hrdo:gen_id_15388 CA2 ENSG00000104267 CA2 1373 611492 P00918 CA-II CAII Car2 Carbonic anhydrase II hrdo:gen_id_15389 CA4 ENSG00000167434 CA4 1375 114760 P22748 CAIV Car4 RP17 Carbonic anhydrase IV hrdo:gen_id_15390 CABP4 ENSG00000175544 CABP4 1386 608965 P57796 Calcium binding protein 4 hrdo:gen_id_15391 CACNA1A ENSG00000141837 CACNA1A 1388 532 601011 O00555 O00555 APCA CACNL1A4 Cav2.1 EA2 FHM HPCA MHP MHP1 SCA6 Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit hrdo:gen_id_15392 CACNA1C ENSG00000151067 CACNA1C 1390 529 114205 Q13936 Q13936 CACH2 CACN2 CACNL1A1 CCHL1A1 Cav1.2 TS Calcium channel, voltage-dependent, L type, alpha 1C subunit hrdo:gen_id_15393 CACNA1F ENSG00000102001 CACNA1F 1393 531 300110 O60840 O60840 CORDX3 CSNB2 CSNB2A CSNBX2 Cav1.4 JM8 JMC8 Calcium channel, voltage-dependent, L type, alpha 1F subunit hrdo:gen_id_15394 CACNA1S ENSG00000081248 CACNA1S 1397 528 114208 Q13698 Q13698 CACNL1A3 Cav1.1 HOKPP MHS5 hypoPP Calcium channel, voltage-dependent, L type, alpha 1S subunit hrdo:gen_id_15395 CACNB2 ENSG00000165995 CACNB2 1402 600003 Q08289 Q08289 CACNLB2 MYSB Calcium channel, voltage-dependent, beta 2 subunit hrdo:gen_id_15396 CACNB4 ENSG00000182389 CACNB4 1404 601949 O00305 O00305 Calcium channel, voltage-dependent, beta 4 subunit hrdo:gen_id_15398 CAPN3 ENSG00000092529 CAPN3 1480 114240 P20807 CANP3 LGMD2 LGMD2A nCL-1 p94 Calpain 3, (p94) hrdo:gen_id_15399 CASP10 ENSG00000003400 CASP10 1500 601762 Q92851 Q92851 MCH4 Caspase 10, apoptosis-related cysteine peptidase hrdo:gen_id_15400 CASQ2 ENSG00000118729 CASQ2 1513 114251 O14958 PDIB2 Calsequestrin 2 (cardiac muscle) hrdo:gen_id_15401 CASR ENSG00000036828 CASR 1514 54 601199 P41180 P41180 FHH GPRC2A HHC HHC1 NSHPT Calcium-sensing receptor (hypocalciuric hypercalcemia 1, severe neonatal hyperparathyroidism) hrdo:gen_id_15402 CAT ENSG00000121691 CAT 1516 115500 P04040 P04040 Catalase hrdo:gen_id_15403 CAV3 ENSG00000182533 CAV3 1529 601253 P56539 LGMD1C VIP-21 VIP21 Caveolin 3 hrdo:gen_id_15404 CBS ENSG00000160200 CBS 1550 613381 P35520 P35520 HIP4 Cystathionine-beta-synthase hrdo:gen_id_15405 CC2D1A ENSG00000132024 CC2D1A 30237 610055 Q6P1N0 FLJ20241 MRT3 Coiled-coil and C2 domain containing 1A hrdo:gen_id_15406 CCDC6 ENSG00000108091 CCDC6 18782 601985 Q16204 D10S170 H4 PTC TPC TST1 Coiled-coil domain containing 6 hrdo:gen_id_15407 CCM2 ENSG00000136280 CCM2 21708 607929 Q9BSQ5 C7orf22 MGC4607 Cerebral cavernous malformation 2 hrdo:gen_id_15408 CCND1 ENSG00000110092 CCND1 1582 168461 P24385 P24385 BCL1 D11S287E PRAD1 Cyclin D1 hrdo:gen_id_15409 CCT5 ENSG00000150753 CCT5 1618 610150 P48643 P48643 KIAA0098 Chaperonin containing TCP1, subunit 5 (epsilon) hrdo:gen_id_15412 CD19 ENSG00000177455 CD19 1633 107265 P15391 P15391 CD19 molecule hrdo:gen_id_15414 CD40 ENSG00000101017 CD40 11919 109535 P25942 P25942 Bp50 TNFRSF5 p50 CD40 molecule, TNF receptor superfamily member 5 hrdo:gen_id_15415 CD40LG ENSG00000102245 CD40LG 11935 300386 P29965 P29965 CD154 CD40L HIGM1 IMD3 TNFSF5 TRAP gp39 hCD40L CD40 ligand (TNF superfamily, member 5, hyper-IgM syndrome) hrdo:gen_id_15416 CD46 ENSG00000117335 CD46 6953 120920 P15529 P15529 MCP MGC26544 MIC10 TLX TRA2.10 CD46 molecule, complement regulatory protein hrdo:gen_id_15417 CDAN1 ENSG00000140326 CDAN1 1713 607465 Q8IWY9 CDA-I CDAI codanin Congenital dyserythropoietic anemia, type I hrdo:gen_id_15418 CDC73 ENSG00000134371 CDC73 16783 607393 Q6P1J9 C1orf28 HRPT2 parafibromin Cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) hrdo:gen_id_15419 CDH1 ENSG00000039068 CDH1 1748 192090 P12830 P12830 CD324 UVO uvomorulin Cadherin 1, type 1, E-cadherin (epithelial) hrdo:gen_id_15420 CDH23 ENSG00000107736 CDH23 13733 605516 Q9H251 DFNB12 USH1D Cadherin-like 23 hrdo:gen_id_15421 CDH3 ENSG00000062038 CDH3 1762 114021 P22223 P22223 CDHP PCAD Cadherin 3, type 1, P-cadherin (placental) hrdo:gen_id_15422 CDK4 ENSG00000135446 CDK4 1773 123829 P11802 P11802 PSK-J3 Cyclin-dependent kinase 4 hrdo:gen_id_15423 CDK5RAP2 ENSG00000136861 CDK5RAP2 18672 608201 Q96SN8 Q96SN8 C48 CEP215 FLJ10867 CDK5 regulatory subunit associated protein 2 hrdo:gen_id_15424 CDKL5 ENSG00000008086 CDKL5 11411 300203 O76039 STK9 Cyclin-dependent kinase-like 5 hrdo:gen_id_15425 CDKN1C ENSG00000129757 CDKN1C 1786 600856 P49918 BWCR BWS KIP2 P57 Cyclin-dependent kinase inhibitor 1C (p57, Kip2) hrdo:gen_id_15426 CDKN2A ENSG00000147889 CDKN2A 1787 600160 Q8N726 ARF CDK4I CDKN2 CMM2 INK4 INK4a MLM MTS1 p14 p16 p16INK4a p19 Cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) hrdo:gen_id_15428 CDSN ENSG00000137197 CDSN 1802 602593 Q15517 D6S586E Corneodesmosin hrdo:gen_id_15429 CECR1 ENSG00000093072 CECR1 1839 607575 Q9NZK5 IDGFL Cat eye syndrome chromosome region, candidate 1 hrdo:gen_id_15430 CECR2 ENSG00000099954 CECR2 1840 607576 Q9BXF3 KIAA1740 Cat eye syndrome chromosome region, candidate 2 hrdo:gen_id_15431 CEL ENSG00000170835 CEL 1848 114840 P19835 P19835 BSSL Carboxyl ester lipase (bile salt-stimulated lipase) hrdo:gen_id_15432 CENPJ ENSG00000151849 CENPJ 17272 609279 Q9HC77 Q9HC77 BM032 CPAP LAP LIP1 MCPH6 Centromere protein J hrdo:gen_id_15433 CEP290 ENSG00000198707 CEP290 29021 610142 O15078 O15078 3H11Ag FLJ13615 JBTS5 KIAA0373 LCA10 MKS4 NPHP6 SLSN6 rd16 Centrosomal protein 290kDa hrdo:gen_id_15434 CERKL ENSG00000188452 CERKL 21699 608381 Q49MI3 RP26 Ceramide kinase-like hrdo:gen_id_15435 CETP ENSG00000087237 CETP 1869 118470 P11597 P11597 Cholesteryl ester transfer protein, plasma hrdo:gen_id_15436 CFC1 ENSG00000136698 CFC1 18292 605194 Q9GZR3 Q9GZR3 CRYPTIC HTX2 Cripto, FRL-1, cryptic family 1 hrdo:gen_id_15437 CFH ENSG00000000971 CFH 4883 134370 P08603 P08603 ARMS1 FHL1 HF HF1 HF2 HUS Complement factor H hrdo:gen_id_15438 CFI ENSG00000205403 CFI 5394 217030 P05156 P05156 C3b-INA FI IF KAF Complement factor I hrdo:gen_id_15439 CFL2 ENSG00000165410 CFL2 1875 601443 Q9Y281 Cofilin 2 (muscle) hrdo:gen_id_15440 CFP ENSG00000126759 CFP 8864 300383 P27918 P27918 PFC Complement factor properdin hrdo:gen_id_15441 CFTR ENSG00000001626 CFTR 1884 602421 P13569 P13569 ABCC7 CF MRP7 Cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) hrdo:gen_id_15442 CHAT ENSG00000070748 CHAT 1912 118490 P28329 P28329 Choline acetyltransferase hrdo:gen_id_15443 CHD7 ENSG00000171316 CHD7 20626 608892 Q9P2D1 FLJ20357 FLJ20361 KIAA1416 Chromodomain helicase DNA binding protein 7 hrdo:gen_id_15444 CHEK2 ENSG00000183765 CHEK2 16627 604373 O96017 O96017 CDS1 CHK2 HuCds1 PP1425 RAD53 bA444G7 CHK2 checkpoint homolog (S. pombe) hrdo:gen_id_15445 CHM ENSG00000188419 CHM 1940 300390 P24386 DXS540 REP-1 TCD Choroideremia (Rab escort protein 1) hrdo:gen_id_15446 CHMP2B ENSG00000083937 CHMP2B 24537 609512 Q9UQN3 Q9UQN3 CHMP2.5 DKFZP564O123 Chromatin modifying protein 2B hrdo:gen_id_15447 CHRNA1 ENSG00000138435 CHRNA1 1955 462 100690 P02708 P02708 CHRNA Cholinergic receptor, nicotinic, alpha 1 (muscle) hrdo:gen_id_15448 CHRNA4 ENSG00000101204 CHRNA4 1958 465 118504 P43681 P43681 BFNC EBN EBN1 Cholinergic receptor, nicotinic, alpha 4 hrdo:gen_id_15449 CHRNB1 ENSG00000170175 CHRNB1 1961 471 100710 P11230 CHRNB Cholinergic receptor, nicotinic, beta 1 (muscle) hrdo:gen_id_15450 CHRND ENSG00000135902 CHRND 1965 476 100720 Q07001 Q07001 ACHRD Cholinergic receptor, nicotinic, delta hrdo:gen_id_15451 CHRNE ENSG00000108556 CHRNE 1966 477 100725 Q04844 Q04844 ACHRE Cholinergic receptor, nicotinic, epsilon hrdo:gen_id_15452 CHRNG ENSG00000196811 CHRNG 1967 475 100730 P07510 P07510 ACHRG Cholinergic receptor, nicotinic, gamma hrdo:gen_id_15453 CHST3 ENSG00000122863 CHST3 1971 603799 Q7LGC8 C6ST C6ST1 Carbohydrate (chondroitin 6) sulfotransferase 3 hrdo:gen_id_15454 CHST6 ENSG00000183196 CHST6 6938 605294 Q9GZX3 MCDC1 Carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 hrdo:gen_id_15456 CIITA ENSG00000179583 CIITA 7067 600005 P33076 P33076 C2TA MHC2TA NLRA Class II, major histocompatibility complex, transactivator hrdo:gen_id_15457 CLCN1 ENSG00000188037 CLCN1 2019 118425 P35523 CLC1 Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant) hrdo:gen_id_15459 CLCN5 ENSG00000171365 CLCN5 2023 300008 P51795 CLC5 DENTS NPHL2 XLRH XRN hCIC-K2 hClC-K2 Chloride channel 5 (nephrolithiasis 2, X-linked, Dent disease) hrdo:gen_id_15460 CLCN7 ENSG00000103249 CLCN7 2025 602727 P51798 CLC-7 CLC7 OPTA2 Chloride channel 7 hrdo:gen_id_15461 CLCNKB ENSG00000184908 CLCNKB 2027 602023 P51801 hClC-Kb Chloride channel Kb hrdo:gen_id_15462 CLDN1 ENSG00000163347 CLDN1 2032 603718 O95832 O95832 SEMP1 Claudin 1 hrdo:gen_id_15463 SLC37A4 ENSG00000137700 SLC37A4 4061 602671 O43826 O43826 G6PT1 G6PT2 G6PT3 GSD1b GSD1c GSD1d Solute carrier family 37 (glucose-6-phosphate transporter), member 4 hrdo:gen_id_15464 SLC39A4 ENSG00000147804 SLC39A4 17129 607059 Q6P5W5 Q6P5W5 AEZ ZIP4 Solute carrier family 39 (zinc transporter), member 4 hrdo:gen_id_15465 SLC40A1 ENSG00000138449 SLC40A1 10909 604653 Q9NP59 Q9NP59 FPN1 HFE4 IREG1 MTP1 SLC11A3 Solute carrier family 40 (iron-regulated transporter), member 1 hrdo:gen_id_15467 ADAR ENSG00000160710 ADAR 225 146920 P55265 P55265 ADAR1 G1P1 IFI4 Adenosine deaminase, RNA-specific hrdo:gen_id_15468 ADSL ENSG00000239900 ADSL 291 608222 P30566 P30566 Adenylosuccinate lyase hrdo:gen_id_15469 AFF2 ENSG00000155966 AFF2 3776 300806 P51816 FMR2 FRAXE AF4/FMR2 family, member 2 hrdo:gen_id_15470 AGA ENSG00000038002 AGA 318 613228 P20933 ASRG Aspartylglucosaminidase hrdo:gen_id_15471 AGGF1 ENSG00000164252 AGGF1 24684 608464 Q8N302 FLJ10283 GPATC7 GPATCH7 HSU84971 VG5Q Angiogenic factor with G patch and FHA domains 1 hrdo:gen_id_15472 AGL ENSG00000162688 AGL 321 610860 P35573 P35573 Amylo-1, 6-glucosidase, 4-alpha-glucanotransferase (glycogen debranching enzyme, glycogen storage disease type III) hrdo:gen_id_15473 AGPAT2 ENSG00000169692 AGPAT2 325 603100 O15120 O15120 BSCL 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta) hrdo:gen_id_15474 AGPS ENSG00000018510 AGPS 327 603051 O00116 O00116 ADAP-S ADAS ADHAPS ADPS ALDHPSY Alkylglycerone phosphate synthase hrdo:gen_id_15475 AGT ENSG00000135744 AGT 333 106150 P01019 P01019 SERPINA8 Angiotensinogen (serpin peptidase inhibitor, clade A, member 8) hrdo:gen_id_15476 AGXT ENSG00000172482 AGXT 341 604285 P21549 P21549 AGT AGT1 AGXT1 PH1 SPAT SPT Alanine-glyoxylate aminotransferase hrdo:gen_id_15477 AHCY ENSG00000101444 AHCY 343 180960 P23526 P23526 SAHH S-adenosylhomocysteine hydrolase hrdo:gen_id_15478 AHI1 ENSG00000135541 AHI1 21575 608894 Q8N157 FLJ20069 JBTS3 ORF1 Abelson helper integration site 1 hrdo:gen_id_15479 AICDA ENSG00000111732 AICDA 13203 605257 Q9GZX7 ARP2 CDA2 HIGM2 Activation-induced cytidine deaminase hrdo:gen_id_15480 AIPL1 ENSG00000129221 AIPL1 359 604392 Q9NZN9 LCA4 Aryl hydrocarbon receptor interacting protein-like 1 hrdo:gen_id_15481 AIRE ENSG00000160224 AIRE 360 607358 O43918 APECED APS1 PGA1 Autoimmune regulator hrdo:gen_id_15482 AK1 ENSG00000106992 AK1 361 103000 P00568 P00568 Adenylate kinase 1 hrdo:gen_id_15483 ALAD ENSG00000148218 ALAD 395 125270 P13716 P13716 ALADH PBGS Aminolevulinate, delta-, dehydratase hrdo:gen_id_15484 ALAS2 ENSG00000158578 ALAS2 397 301300 P22557 P22557 ASB Aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia) hrdo:gen_id_15485 ALB ENSG00000163631 ALB 399 103600 P02768 P02768 Albumin hrdo:gen_id_15486 ALDH18A1 ENSG00000059573 ALDH18A1 9722 138250 P54886 P54886 GSAS P5CS PYCS Aldehyde dehydrogenase 18 family, member A1 hrdo:gen_id_15487 ALDH3A2 ENSG00000072210 ALDH3A2 403 609523 P51648 ALDH10 FALDH SLS Aldehyde dehydrogenase 3 family, member A2 hrdo:gen_id_15488 ALDH4A1 ENSG00000159423 ALDH4A1 406 606811 P30038 P30038 ALDH4 P5CDh Aldehyde dehydrogenase 4 family, member A1 hrdo:gen_id_15489 ALDH5A1 ENSG00000112294 ALDH5A1 408 610045 P51649 P51649 SSADH SSDH Aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase) hrdo:gen_id_15490 ALDH7A1 ENSG00000164904 ALDH7A1 877 107323 P49419 P49419 ATQ1 Aldehyde dehydrogenase 7 family, member A1 hrdo:gen_id_15491 ALDOA ENSG00000149925 ALDOA 414 103850 P04075 P04075 Aldolase A, fructose-bisphosphate hrdo:gen_id_15492 ALDOB ENSG00000136872 ALDOB 417 612724 P05062 P05062 Aldolase B, fructose-bisphosphate hrdo:gen_id_15493 ALG1 ENSG00000033011 ALG1 18294 605907 Q9BT22 Q9BT22 HMAT1 HMT-1 Asparagine-linked glycosylation 1 homolog (S. cerevisiae, beta-1,4-mannosyltransferase) hrdo:gen_id_15495 ALG12 ENSG00000182858 ALG12 19358 607144 Q9BV10 Q9BV10 ECM39 Asparagine-linked glycosylation 12 homolog (S. cerevisiae, alpha-1,6-mannosyltransferase) hrdo:gen_id_15496 ALG2 ENSG00000119523 ALG2 23159 607905 Q9H553 Q9H553 CDGIi FLJ14511 hALPG2 Asparagine-linked glycosylation 2 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase) hrdo:gen_id_15497 ALG3 ENSG00000214160 ALG3 23056 608750 Q92685 Q92685 CDGS4 D16Ertd36e NOT56L Not56 Asparagine-linked glycosylation 3 homolog (S. cerevisiae, alpha-1,3-mannosyltransferase) hrdo:gen_id_15498 ALG6 ENSG00000088035 ALG6 23157 604566 Q9Y672 Q9Y672 Asparagine-linked glycosylation 6 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase) hrdo:gen_id_15499 ALG8 ENSG00000159063 ALG8 23161 608103 Q9BVK2 Q9BVK2 MGC2840 Asparagine-linked glycosylation 8 homolog (S. cerevisiae, alpha-1,3-glucosyltransferase) hrdo:gen_id_15500 ALG9 ENSG00000086848 ALG9 15672 606941 Q9H6U8 Q9H6U8 DIBD1 Asparagine-linked glycosylation 9 homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase) hrdo:gen_id_15501 ALMS1 ENSG00000116127 ALMS1 428 606844 Q8TCU4 Q8TCU4 KIAA0328 Alstrom syndrome 1 hrdo:gen_id_15502 ALOX12B ENSG00000179477 ALOX12B 430 603741 O75342 Arachidonate 12-lipoxygenase, 12R type hrdo:gen_id_15503 ALOXE3 ENSG00000179148 ALOXE3 13743 607206 Q9BYJ1 eLOX3 Arachidonate lipoxygenase 3 hrdo:gen_id_15504 ALPL ENSG00000162551 ALPL 438 171760 P05186 HOPS TNSALP Alkaline phosphatase, liver/bone/kidney hrdo:gen_id_15505 ALS2 ENSG00000003393 ALS2 443 606352 Q96Q42 ALS2CR6 Alsin Amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6 Amyotrophic lateral sclerosis 2 (juvenile) hrdo:gen_id_15506 ALX4 ENSG00000052850 ALX4 450 605420 Q9H161 FPP KIAA1788 PFM Aristaless-like homeobox 4 hrdo:gen_id_15507 AMELX ENSG00000125363 AMELX 461 300391 Q99217 AIH1 AMG Amelogenin (amelogenesis imperfecta 1, X-linked) hrdo:gen_id_15508 AMH ENSG00000104899 AMH 464 600957 P03971 MIS Anti-Mullerian hormone hrdo:gen_id_15509 AMHR2 ENSG00000135409 AMHR2 465 600956 Q16671 Anti-Mullerian hormone receptor, type II hrdo:gen_id_15510 AMMECR1 ENSG00000101935 AMMECR1 467 300195 Q9Y4X0 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region, gene 1 hrdo:gen_id_15511 SLC45A2 ENSG00000164175 SLC45A2 16472 606202 Q9UMX9 AIM-1 MATP Solute carrier family 45, member 2 hrdo:gen_id_15512 SLC4A1 ENSG00000004939 SLC4A1 11027 109270 P02730 P02730 AE1 CD233 DI EPB3 FR RTA1A SW WD WR Solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) hrdo:gen_id_15513 SLC4A11 ENSG00000088836 SLC4A11 16438 610206 Q8NBS3 BTR1 CHED2 dJ794I6.2 Solute carrier family 4, sodium bicarbonate transporter-like, member 11 hrdo:gen_id_15514 SLC4A4 ENSG00000080493 SLC4A4 11030 603345 Q9Y6R1 Q9Y6R1 HNBC1 NBC1 NBC2 SLC4A5 hhNMC pNBC Solute carrier family 4, sodium bicarbonate cotransporter, member 4 hrdo:gen_id_15515 SLC5A1 ENSG00000100170 SLC5A1 11036 182380 P13866 P13866 D22S675 SGLT1 Solute carrier family 5 (sodium/glucose cotransporter), member 1 hrdo:gen_id_15516 SLC5A2 ENSG00000140675 SLC5A2 11037 182381 P31639 P31639 SGLT2 Solute carrier family 5 (sodium/glucose cotransporter), member 2 hrdo:gen_id_15517 SLC5A5 ENSG00000105641 SLC5A5 11040 601843 Q92911 Q92911 NIS Solute carrier family 5 (sodium iodide symporter), member 5 hrdo:gen_id_15518 SLC6A19 ENSG00000174358 SLC6A19 27960 608893 Q695T7 Q695T7 Solute carrier family 6 (neutral amino acid transporter), member 19 hrdo:gen_id_15519 SLC6A8 ENSG00000130821 SLC6A8 11055 300036 P48029 P48029 CRTR CT1 Solute carrier family 6 (neurotransmitter transporter, creatine), member 8 hrdo:gen_id_15520 SLC7A7 ENSG00000155465 SLC7A7 11065 603593 Q9UM01 Q9UM01 LPI y+LAT-1 Solute carrier family 7 (cationic amino acid transporter, y+ system), member 7 hrdo:gen_id_15521 SLC7A9 ENSG00000021488 SLC7A9 11067 604144 P82251 P82251 CSNU3 Solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 hrdo:gen_id_15522 SLITRK1 ENSG00000178235 SLITRK1 20297 609678 Q96PX8 KIAA1910 LRRC12 SLIT and NTRK-like family, member 1 hrdo:gen_id_15523 SLURP1 ENSG00000126233 SLURP1 18746 606119 P55000 ANUP ARS ArsB LY6LS MDM Secreted LY6/PLAUR domain containing 1 hrdo:gen_id_15524 SMAD4 ENSG00000141646 SMAD4 6770 600993 Q13485 Q13485 DPC4 MADH4 SMAD family member 4 hrdo:gen_id_15525 SMARCAL1 ENSG00000138375 SMARCAL1 11102 606622 Q9NZC9 HARP HHARP SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 hrdo:gen_id_15526 SMARCB1 ENSG00000099956 SMARCB1 11103 601607 Q12824 BAF47 Ini1 SNF5L1 Sfh1p Snr1 hSNFS SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 hrdo:gen_id_15527 SMC1A ENSG00000072501 SMC1A 11111 300040 Q14683 Q14683 DXS423E KIAA0178 SB1.8 SMC1L1 Smcb Structural maintenance of chromosomes 1A hrdo:gen_id_15528 SMN2 ENSG00000205571 SMN2 11118 601627 Q16637 Q16637 BCD541 SMNC Survival of motor neuron 2, centromeric hrdo:gen_id_15529 SMPD1 ENSG00000166311 SMPD1 11120 607608 P17405 P17405 ASM Sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase) hrdo:gen_id_15530 SNAI2 ENSG00000019549 SNAI2 11094 602150 O43623 SLUG SLUGH1 Snail homolog 2 (Drosophila) hrdo:gen_id_15531 SNAP29 ENSG00000099940 SNAP29 11133 604202 O95721 Synaptosomal-associated protein, 29kDa hrdo:gen_id_15532 SNCA ENSG00000145335 SNCA 11138 163890 P37840 P37840 NACP PARK1 PD1 Synuclein, alpha (non A4 component of amyloid precursor) hrdo:gen_id_15534 SNRPN ENSG00000128739 SNRPN 11164 182279 P63162 Small nuclear ribonucleoprotein polypeptide N hrdo:gen_id_15535 SNX3 ENSG00000112335 SNX3 11174 605930 O60493 Grd19 Sorting nexin 3 hrdo:gen_id_15536 SOD1 ENSG00000142168 SOD1 11179 147450 P00441 P00441 ALS ALS1 IPOA Superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult)) hrdo:gen_id_15537 SOS1 ENSG00000115904 SOS1 11187 182530 Q07889 Q07889 GF1 GINGF HGF Son of sevenless homolog 1 (Drosophila) hrdo:gen_id_15538 SOX10 ENSG00000100146 SOX10 11190 602229 P56693 SRY (sex determining region Y)-box 10 hrdo:gen_id_15539 SOX18 ENSG00000203883 SOX18 11194 601618 P35713 SRY (sex determining region Y)-box 18 hrdo:gen_id_15540 SOX2 ENSG00000181449 SOX2 11195 184429 P48431 SRY (sex determining region Y)-box 2 hrdo:gen_id_15541 SOX9 ENSG00000125398 SOX9 11204 608160 P48436 CMD1 CMPD1 SRA1 SRY (sex determining region Y)-box 9 hrdo:gen_id_15542 SP110 ENSG00000135899 SP110 5401 604457 Q9HB58 IFI41 IFI75 SP110 nuclear body protein hrdo:gen_id_15543 SPAST ENSG00000021574 SPAST 11233 604277 Q9UBP0 ADPSP FSP2 KIAA1083 SPG4 Spastin hrdo:gen_id_15544 SPG11 ENSG00000104133 SPG11 11226 610844 Q96JI7 FLJ21439 KIAA1840 Spastic paraplegia 11 (autosomal recessive) hrdo:gen_id_15545 SPG20 ENSG00000133104 SPG20 18514 607111 Q8N0X7 KIAA0610 TAHCCP1 Spastic paraplegia 20 (Troyer syndrome) hrdo:gen_id_15546 SPG21 ENSG00000090487 SPG21 20373 608181 Q9NZD8 ACP33 BM-019 GL010 MAST Spastic paraplegia 21 (autosomal recessive, Mast syndrome) hrdo:gen_id_15547 ATL1 ENSG00000198513 SPG3A 11231 606439 Q8WXF7 AD-FSP ATL1 FSP1 SPG3 SPG3A atlastin atlastin1 Atlastin GTPase 1 hrdo:gen_id_15548 SPG7 ENSG00000197912 SPG7 11237 602783 Q9UQ90 CAR CMAR SPG5C Spastic paraplegia 7 (pure and complicated autosomal recessive) hrdo:gen_id_15549 SPINK1 ENSG00000164266 SPINK1 11244 167790 P00995 PCTT PSTI Spink3 TATI Serine peptidase inhibitor, Kazal type 1 hrdo:gen_id_15550 SPINK5 ENSG00000133710 SPINK5 15464 605010 Q9NQ38 LEKTI VAKTI Serine peptidase inhibitor, Kazal type 5 hrdo:gen_id_15551 SPR ENSG00000116096 SPR 11257 182125 P35270 P35270 Sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) hrdo:gen_id_15552 SPTA1 ENSG00000163554 SPTA1 11272 182860 P02549 P02549 EL2 Spectrin, alpha, erythrocytic 1 (elliptocytosis 2) hrdo:gen_id_15553 SPTB ENSG00000070182 SPTB 11274 182870 P11277 P11277 Spectrin, beta, erythrocytic (includes spherocytosis, clinical type I) hrdo:gen_id_15554 SPTBN2 ENSG00000173898 SPTBN2 11276 604985 O15020 O15020 SCA5 Spectrin, beta, non-erythrocytic 2 hrdo:gen_id_15555 SPTLC1 ENSG00000090054 SPTLC1 11277 605712 O15269 O15269 HSAN1 HSN1 LCB1 SPTI Serine palmitoyltransferase, long chain base subunit 1 hrdo:gen_id_15556 SRD5A2 ENSG00000049319 SRD5A2 11285 607306 P31213 P31213 Steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) hrdo:gen_id_15557 SRPX2 ENSG00000102359 SRPX2 30668 300642 O60687 SRPUL Sushi-repeat-containing protein, X-linked 2 hrdo:gen_id_15558 SRY ENSG00000184895 SRY 11311 480000 Q05066 TDF Sex determining region Y hrdo:gen_id_15559 SS18 ENSG00000141380 SS18 11340 600192 Q15532 SSXT SYT Synovial sarcoma translocation, chromosome 18 hrdo:gen_id_15560 SSTR5 ENSG00000162009 SSTR5 11334 359 182455 P35346 P35346 Somatostatin receptor 5 hrdo:gen_id_15561 SSX1 ENSG00000126752 SSX1 11335 312820 Q16384 Synovial sarcoma, X breakpoint 1 hrdo:gen_id_15562 STAR ENSG00000147465 STAR 11359 600617 P49675 P49675 STARD1 Steroidogenic acute regulatory protein hrdo:gen_id_15563 STAT1 ENSG00000115415 STAT1 11362 600555 P42224 P42224 STAT91 Signal transducer and activator of transcription 1, 91kDa hrdo:gen_id_15564 STAT5B ENSG00000173757 STAT5B 11367 604260 P51692 P51692 Signal transducer and activator of transcription 5B hrdo:gen_id_15565 STK11 ENSG00000118046 STK11 11389 602216 Q15831 Q15831 LKB1 PJS Serine/threonine kinase 11 hrdo:gen_id_15566 STS ENSG00000101846 STS 11425 300747 P08842 P08842 ARSC ARSC1 Steroid sulfatase (microsomal), isozyme S hrdo:gen_id_15567 STX11 ENSG00000135604 STX11 11429 605014 O75558 O75558 Syntaxin 11 hrdo:gen_id_15568 SUCLA2 ENSG00000136143 SUCLA2 11448 603921 Q9P2R7 Q9P2R7 Succinate-CoA ligase, ADP-forming, beta subunit hrdo:gen_id_15569 SUFU ENSG00000107882 SUFU 16466 607035 Q9UMX1 SUFUH Suppressor of fused homolog (Drosophila) hrdo:gen_id_15570 SUMF1 ENSG00000144455 SUMF1 20376 607939 Q8NBK3 FGE Sulfatase modifying factor 1 hrdo:gen_id_15571 SUOX ENSG00000139531 SUOX 11460 606887 P51687 P51687 Sulfite oxidase hrdo:gen_id_15572 SURF1 ENSG00000148290 SURF1 11474 185620 Q15526 Surfeit 1 hrdo:gen_id_15573 SYN1 ENSG00000008056 SYN1 11494 313440 P17600 P17600 Synapsin I hrdo:gen_id_15574 T ENSG00000164458 T 11515 601397 O15178 T, brachyury homolog (mouse) hrdo:gen_id_15575 TACSTD2 ENSG00000184292 TACSTD2 11530 137290 P09758 EGP-1 GA733-1 M1S1 TROP2 Tumor-associated calcium signal transducer 2 hrdo:gen_id_15576 TAL1 ENSG00000162367 TAL1 11556 187040 P17542 SCL TCL5 T-cell acute lymphocytic leukemia 1 hrdo:gen_id_15578 TAP2 ENSG00000204267 TAP2 44 170261 Q03519 Q03519 ABCB3 D6S217E PSF2 RING11 Transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) hrdo:gen_id_15579 TAT ENSG00000198650 TAT 11573 613018 P17735 P17735 Tyrosine aminotransferase hrdo:gen_id_15580 TAZ ENSG00000102125 TAZ 11577 300394 Q16635 Q16635 BTHS CMD3A EFE EFE2 G4.5 XAP-2 'Tafazzin (cardiomyopathy, dilated 3A (X-linked); endocardial fibroelastosis 2; Barth syndrome)' hrdo:gen_id_15581 TBCE ENSG00000116957 TBCE 11582 604934 Q15813 Q15813 HRD KCS KCS1 pac2 Tubulin folding cofactor E hrdo:gen_id_15582 TBL2 ENSG00000106638 TBL2 11586 605842 Q9Y4P3 WBSCR13 WS-betaTRP Transducin (beta)-like 2 hrdo:gen_id_15583 TBP ENSG00000112592 TBP 11588 600075 P20226 P20226 GTF2D1 SCA17 TFIID TATA box binding protein hrdo:gen_id_15584 TBX1 ENSG00000184058 TBX1 11592 602054 O43435 T-box 1 hrdo:gen_id_15585 TBX19 ENSG00000143178 TBX19 11596 604614 O60806 TPIT dj747L4.1 T-box 19 hrdo:gen_id_15586 TBX22 ENSG00000122145 TBX22 11600 300307 Q9Y458 T-box 22 hrdo:gen_id_15587 TBX3 ENSG00000135111 TBX3 11602 601621 O15119 TBX3-ISO UMS XHL T-box 3 (ulnar mammary syndrome) hrdo:gen_id_15588 TBX4 ENSG00000121075 TBX4 11603 601719 P57082 T-box 4 hrdo:gen_id_15589 TBX5 ENSG00000089225 TBX5 11604 601620 Q99593 Q99593 HOS T-box 5 hrdo:gen_id_15590 TCAP ENSG00000173991 TCAP 11610 604488 O15273 O15273 CMD1N LGMD2G T-cap TELE telethonin Titin-cap (telethonin) hrdo:gen_id_15593 TCIRG1 ENSG00000110719 TCIRG1 11647 604592 Q13488 Q13488 ATP6N1C ATP6V0A3 Atp6i OC-116 OC116 TIRC7 a3 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 hrdo:gen_id_15594 TCN2 ENSG00000185339 TCN2 11653 613441 P20062 D22S676 D22S750 'Transcobalamin II; macrocytic anemia' hrdo:gen_id_15595 TCOF1 ENSG00000070814 TCOF1 11654 606847 Q13428 treacle Treacher Collins-Franceschetti syndrome 1 hrdo:gen_id_15596 TDP1 ENSG00000042088 TDP1 18884 607198 Q9NUW8 Q9NUW8 FLJ11090 SCAN1 Tyrosyl-DNA phosphodiesterase 1 hrdo:gen_id_15597 TEAD1 ENSG00000187079 TEAD1 11714 189967 P28347 P28347 AA TCF13 TEF-1 TEA domain family member 1 (SV40 transcriptional enhancer factor) hrdo:gen_id_15598 TECTA ENSG00000109927 TECTA 11720 602574 O75443 DFNA12 DFNA8 DFNB21 Tectorin alpha hrdo:gen_id_15599 TEK ENSG00000120156 TEK 11724 600221 Q02763 Q02763 CD202b TIE-2 TIE2 VMCM VMCM1 TEK tyrosine kinase, endothelial (venous malformations, multiple cutaneous and mucosal) hrdo:gen_id_15600 TF ENSG00000091513 TF 11740 190000 P02787 P02787 Transferrin hrdo:gen_id_15601 TFAP2B ENSG00000008196 TFAP2B 11743 601601 Q92481 AP2-B Transcription factor AP-2 beta (activating enhancer binding protein 2 beta) hrdo:gen_id_15602 TFB1M ENSG00000029639 TFB1M 17037 607033 Q8WVM0 CGI-75 mtTFB Transcription factor B1, mitochondrial hrdo:gen_id_15603 TFE3 ENSG00000068323 TFE3 11752 314310 P19532 TFEA Transcription factor binding to IGHM enhancer 3 hrdo:gen_id_15604 TFG ENSG00000114354 TFG 11758 602498 Q92734 FLJ36137 TF6 TRK-fused gene hrdo:gen_id_15605 TFR2 ENSG00000106327 TFR2 11762 604720 Q9UP52 HFE3 TFRC2 Transferrin receptor 2 hrdo:gen_id_15606 TGFB1 ENSG00000105329 TGFB1 11766 190180 P01137 P01137 CED DPD1 TGFB Transforming growth factor, beta 1 hrdo:gen_id_15607 TGFB2 ENSG00000092969 TGFB2 11768 190220 P61812 P61812 Transforming growth factor, beta 2 hrdo:gen_id_15608 TGFB3 ENSG00000119699 TGFB3 11769 190230 P10600 P10600 Transforming growth factor, beta 3 hrdo:gen_id_15609 TGFBI ENSG00000120708 TGFBI 11771 601692 Q15582 Q15582 BIGH3 CDB1 CDGG1 CSD1 CSD2 CSD3 LCD1 Transforming growth factor, beta-induced, 68kDa hrdo:gen_id_15610 TGFBR1 ENSG00000106799 TGFBR1 11772 190181 P36897 P36897 ACVRLK4 ALK-5 Transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa) hrdo:gen_id_15611 TGFBR2 ENSG00000163513 TGFBR2 11773 190182 P37173 P37173 MFS2 Transforming growth factor, beta receptor II (70/80kDa) hrdo:gen_id_15612 TGIF1 ENSG00000177426 TGIF1 11776 602630 Q15583 HPE4 TGIF TGFB-induced factor homeobox 1 hrdo:gen_id_15613 TGM1 ENSG00000092295 TGM1 11777 190195 P22735 ICR2 LI LI1 TGASE TGK Transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) hrdo:gen_id_15614 TGM5 ENSG00000104055 TGM5 11781 603805 O43548 TGX Transglutaminase 5 hrdo:gen_id_15615 TH ENSG00000180176 TH 11782 191290 P07101 P07101 DYT5b Tyrosine hydroxylase hrdo:gen_id_15616 THBD ENSG00000178726 THBD 11784 188040 P07204 P07204 CD141 Thrombomodulin hrdo:gen_id_15617 THPO ENSG00000090534 THPO 11795 600044 P40225 P40225 MGDF MPLLG TPO Thrombopoietin hrdo:gen_id_15619 THRB ENSG00000151090 THRB 11799 589 190160 P10828 P10828 ERBA2 NR1A2 THRB1 THRB2 Thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian) hrdo:gen_id_15620 TIMM8A ENSG00000126953 TIMM8A 11817 300356 O60220 O60220 DDP DFN1 MTS Translocase of inner mitochondrial membrane 8 homolog A (yeast) hrdo:gen_id_15621 TIMP3 ENSG00000100234 TIMP3 11822 188826 P35625 SFD TIMP metallopeptidase inhibitor 3 (Sorsby fundus dystrophy, pseudoinflammatory) hrdo:gen_id_15623 TK2 ENSG00000166548 TK2 11831 188250 O00142 O00142 Thymidine kinase 2, mitochondrial hrdo:gen_id_15626 TMC1 ENSG00000165091 TMC1 16513 606706 Q8TDI8 DFNA36 DFNB11 DFNB7 Transmembrane channel-like 1 hrdo:gen_id_15628 ANO5 ENSG00000171714 ANO5 27337 608662 Q75V66 GDD1 TMEM16E Anoctamin 5 hrdo:gen_id_15629 TMEM67 ENSG00000164953 TMEM67 28396 609884 Q5HYA8 JBTS6 MGC26979 MKS3 Transmembrane protein 67 hrdo:gen_id_15630 TMIE ENSG00000181585 TMIE 30800 607237 Q8NEW7 DFNB6 Transmembrane inner ear hrdo:gen_id_15631 TMPRSS3 ENSG00000160183 TMPRSS3 11877 605511 P57727 DFNB10 DFNB8 Transmembrane protease, serine 3 hrdo:gen_id_15632 TNFRSF10B ENSG00000120889 TNFRSF10B 11905 603612 O14763 O14763 CD262 DR5 KILLER TRAIL-R2 TRICK2A TRICKB Tumor necrosis factor receptor superfamily, member 10b hrdo:gen_id_15633 TNFRSF11A ENSG00000141655 TNFRSF11A 11908 603499 Q9Y6Q6 CD265 RANK Tumor necrosis factor receptor superfamily, member 11a, NFKB activator hrdo:gen_id_15634 TNFRSF11B ENSG00000164761 TNFRSF11B 11909 602643 O00300 OCIF OPG TR1 Tumor necrosis factor receptor superfamily, member 11b (osteoprotegerin) hrdo:gen_id_15635 TNFRSF13B ENSG00000240505 TNFRSF13B 18153 604907 O14836 CD267 TACI Tumor necrosis factor receptor superfamily, member 13B hrdo:gen_id_15636 TNFRSF1A ENSG00000067182 TNFRSF1A 11916 191190 P19438 P19438 CD120a TNF-R TNF-R-I TNF-R55 TNFAR TNFR1 TNFR60 Tumor necrosis factor receptor superfamily, member 1A hrdo:gen_id_15637 TNNI2 ENSG00000130598 TNNI2 11946 191043 P48788 P48788 Troponin I type 2 (skeletal, fast) hrdo:gen_id_15638 TNNI3 ENSG00000129991 TNNI3 11947 191044 P19429 P19429 CMH7 TNNC1 Troponin I type 3 (cardiac) hrdo:gen_id_15639 TNNT1 ENSG00000105048 TNNT1 11948 191041 P13805 P13805 Troponin T type 1 (skeletal, slow) hrdo:gen_id_15640 TNNT2 ENSG00000118194 TNNT2 11949 191045 P45379 P45379 Troponin T type 2 (cardiac) hrdo:gen_id_15641 TNNT3 ENSG00000130595 TNNT3 11950 600692 P45378 P45378 Troponin T type 3 (skeletal, fast) hrdo:gen_id_15642 TNXB ENSG00000168477 TNXB 11976 600985 P22105 TNXB1 TNXB2 TNXBS XB XBS Tenascin XB hrdo:gen_id_15643 TOR1A ENSG00000136827 TOR1A 3098 605204 O14656 DYT1 Torsin family 1, member A (torsin A) hrdo:gen_id_15644 TP53 ENSG00000141510 TP53 11998 191170 P04637 P04637 P53 Tumor protein p53 (Li-Fraumeni syndrome) hrdo:gen_id_15645 TP63 ENSG00000073282 TP63 15979 603273 Q9H3D4 EEC3 KET OFC8 SHFM4 TP63 p51 p63 p73H p73L Tumor Protein p63 hrdo:gen_id_15646 TPI1 ENSG00000111669 TPI1 12009 190450 P60174 P60174 Triosephosphate isomerase 1 hrdo:gen_id_15647 TPM1 ENSG00000140416 TPM1 12010 191010 P09493 P09493 C15orf13 Tropomyosin 1 (alpha) hrdo:gen_id_15648 TPM2 ENSG00000198467 TPM2 12011 190990 P07951 P07951 AMCD1 DA1 Tropomyosin 2 (beta) hrdo:gen_id_15649 TPM3 ENSG00000143549 TPM3 12012 191030 P06753 P06753 NEM1 TRK Tropomyosin 3 hrdo:gen_id_15650 TPMT ENSG00000137364 TPMT 12014 187680 P51580 P51580 Thiopurine S-methyltransferase hrdo:gen_id_15651 TPO ENSG00000115705 TPO 12015 606765 P07202 P07202 TPX Thyroid peroxidase hrdo:gen_id_15652 TPP1 ENSG00000166340 TPP1 2073 607998 O14773 O14773 CLN2 Tripeptidyl peptidase I hrdo:gen_id_15653 TPR ENSG00000047410 TPR 12017 189940 P12270 P12270 Translocated promoter region (to activated MET oncogene) hrdo:gen_id_15654 TRAPPC2 ENSG00000196459 TRAPPC2 23068 300202 O14582 MIP-2A SEDL SEDT TRS20 ZNF547L hYP38334 Trafficking protein particle complex 2 hrdo:gen_id_15655 TREM2 ENSG00000095970 TREM2 17761 605086 Q9NZC2 Q9NZC2 TREM-2 Trem2a Trem2b Trem2c Triggering receptor expressed on myeloid cells 2 hrdo:gen_id_15656 TREX1 ENSG00000213689 TREX1 12269 606609 Q9NSU2 AGS1 DRN3 Three prime repair exonuclease 1 hrdo:gen_id_15657 TRH ENSG00000170893 TRH 12298 275120 P20396 P20396 Thyrotropin-releasing hormone hrdo:gen_id_15658 TRHR ENSG00000174417 TRHR 12299 363 188545 P34981 P34981 Thyrotropin-releasing hormone receptor hrdo:gen_id_15659 TRIM24 ENSG00000122779 TRIM24 11812 603406 O15164 RNF82 TIF1 Tif1a hTIF1 Tripartite motif-containing 24 hrdo:gen_id_15660 TRIM27 ENSG00000204713 TRIM27 9975 602165 P14373 RFP RNF76 Tripartite motif-containing 27 hrdo:gen_id_15661 TRIM32 ENSG00000119401 TRIM32 16380 602290 Q13049 Q13049 BBS11 HT2A LGMD2H TATIP Tripartite motif-containing 32 hrdo:gen_id_15662 TRIM33 ENSG00000197323 TRIM33 16290 605769 Q9UPN9 FLJ11429 KIAA1113 PTC7 RFG7 TF1G TIF1G TIF1GAMMA TIFGAMMA Tripartite motif-containing 33 hrdo:gen_id_15663 TRIM37 ENSG00000108395 TRIM37 7523 605073 O94972 O94972 KIAA0898 MUL Tripartite motif-containing 37 hrdo:gen_id_15664 TRMU ENSG00000100416 TRMU 25481 610230 O75648 FLJ10140 MTO2 TRMT TRNA 5-methylaminomethyl-2-thiouridylate methyltransferase hrdo:gen_id_15665 TRPC6 ENSG00000137672 TRPC6 12338 491 603652 Q9Y210 Q9Y210 TRP6 Transient receptor potential cation channel, subfamily C, member 6 hrdo:gen_id_15666 TRPM6 ENSG00000119121 TRPM6 17995 498 607009 Q9BX84 CHAK2 FLJ22628 HOMG HSH Transient receptor potential cation channel, subfamily M, member 6 hrdo:gen_id_15667 TRPS1 ENSG00000104447 TRPS1 12340 604386 Q9UHF7 Trichorhinophalangeal syndrome I hrdo:gen_id_15668 TSC1 ENSG00000165699 TSC1 12362 605284 Q92574 Q92574 KIAA0243 LAM TSC hamartin Tuberous sclerosis 1 hrdo:gen_id_15669 TSC2 ENSG00000103197 TSC2 12363 191092 P49815 P49815 LAM TSC4 tuberin Tuberous sclerosis 2 hrdo:gen_id_15670 TSHR ENSG00000165409 TSHR 12373 255 603372 P16473 P16473 LGR3 Thyroid stimulating hormone receptor hrdo:gen_id_15671 TTC8 ENSG00000165533 TTC8 20087 608132 Q8TAM2 BBS8 Tetratricopeptide repeat domain 8 hrdo:gen_id_15672 TTN ENSG00000155657 TTN 12403 188840 Q8WZ42 Q8WZ42 CMD1G CMH9 CMPD4 FLJ32040 LGMD2J TMD Titin hrdo:gen_id_15673 TTPA ENSG00000137561 TTPA 12404 600415 P49638 AVED Tocopherol (alpha) transfer protein hrdo:gen_id_15674 TTR ENSG00000118271 TTR 12405 176300 P02766 P02766 HsT2651 PALB Transthyretin (prealbumin, amyloidosis type I) hrdo:gen_id_15675 TULP1 ENSG00000112041 TULP1 12423 602280 O00294 RP14 TUBL1 Tubby like protein 1 hrdo:gen_id_15676 TWIST1 ENSG00000122691 TWIST1 12428 601622 Q15672 ACS3 BPES2 BPES3 H-twist SCS TWIST Twist homolog 1 (Drosophila) hrdo:gen_id_15677 TYR ENSG00000077498 TYR 12442 606933 P14679 OCAIA Tyrosinase (oculocutaneous albinism IA) hrdo:gen_id_15678 TYROBP ENSG00000011600 TYROBP 12449 604142 O43914 O43914 DAP12 PLO-SL PLOSL TYRO protein tyrosine kinase binding protein hrdo:gen_id_15679 TYRP1 ENSG00000107165 TYRP1 12450 115501 P17643 CAS2 TYRP Tyrosinase-related protein 1 hrdo:gen_id_15680 UBE3A ENSG00000114062 UBE3A 12496 601623 Q05086 Q05086 ANCR AS E6-AP EPVE6AP FLJ26981 HPVE6A Ubiquitin protein ligase E3A (human papilloma virus E6-associated protein, Angelman syndrome) hrdo:gen_id_15681 UBR1 ENSG00000159459 UBR1 16808 605981 Q8IWV7 Q8IWV7 Ubiquitin protein ligase E3 component n-recognin 1 hrdo:gen_id_15682 UCHL1 ENSG00000154277 UCHL1 12513 191342 P09936 PARK5 PGP9.5 Uch-L1 Ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) hrdo:gen_id_15683 UGT1A1 ENSG00000241635 UGT1A1 12530 191740 P22309 P22309 GNT1 UGT1 UGT1A UDP glucuronosyltransferase 1 family, polypeptide A1 hrdo:gen_id_15692 UMOD ENSG00000169344 UMOD 12559 191845 P07911 Uromodulin (uromucoid, Tamm-Horsfall glycoprotein) hrdo:gen_id_15693 UMPS ENSG00000114491 UMPS 12563 613891 P11172 P11172 Uridine monophosphate synthetase (orotate phosphoribosyl transferase and orotidine-5'-decarboxylase) hrdo:gen_id_15694 UNC13D ENSG00000092929 UNC13D 23147 608897 Q70J99 Munc13-4 Unc-13 homolog D (C. elegans) hrdo:gen_id_15695 UNC93B1 ENSG00000110057 UNC93B1 13481 608204 Q9H1C4 Q9H1C4 Unc-93 homolog B1 (C. elegans) hrdo:gen_id_15696 UNG ENSG00000076248 UNG 12572 191525 P13051 DGU HIGM4 UDG UNG1 Uracil-DNA glycosylase hrdo:gen_id_15697 UPB1 ENSG00000100024 UPB1 16297 606673 Q9UBR1 Q9UBR1 BUP1 Ureidopropionase, beta hrdo:gen_id_15698 UROD ENSG00000126088 UROD 12591 613521 P06132 P06132 Uroporphyrinogen decarboxylase hrdo:gen_id_15699 UROS ENSG00000188690 UROS 12592 606938 P10746 P10746 Uroporphyrinogen III synthase (congenital erythropoietic porphyria) hrdo:gen_id_15700 USH1C ENSG00000006611 USH1C 12597 605242 Q9Y6N9 AIE-75 DFNB18 NY-CO-37 NY-CO-38 PDZ-73/NY-CO-38 PDZ73 harmonin Usher syndrome 1C (autosomal recessive, severe) hrdo:gen_id_15701 USH1G ENSG00000182040 USH1G 16356 607696 Q495M9 ANKS4A FLJ33924 Sans Usher syndrome 1G (autosomal recessive) hrdo:gen_id_15702 USH2A ENSG00000042781 USH2A 12601 608400 O75445 USH2 Usher syndrome 2A (autosomal recessive, mild) hrdo:gen_id_15703 USP9Y ENSG00000114374 USP9Y 12633 400005 O00507 AZF AZF1 DFFRY Ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila) hrdo:gen_id_15704 VAPB ENSG00000124164 VAPB 12649 605704 O95292 O95292 VAP-B VAP-C VAMP (vesicle-associated membrane protein)-associated protein B and C hrdo:gen_id_15705 VCAN ENSG00000038427 VCAN 2464 118661 P13611 CSPG2 PG-M Versican hrdo:gen_id_15706 VCP ENSG00000165280 VCP 12666 601023 P55072 IBMPFD Valosin-containing protein hrdo:gen_id_15707 VDR ENSG00000111424 VDR 12679 605 601769 P11473 P11473 NR1I1 Vitamin D (1,25- dihydroxyvitamin D3) receptor hrdo:gen_id_15708 VHL ENSG00000134086 VHL 12687 608537 P40337 P40337 VHL1 Von Hippel-Lindau tumor suppressor hrdo:gen_id_15709 VLDLR ENSG00000147852 VLDLR 12698 192977 P98155 Very low density lipoprotein receptor hrdo:gen_id_15710 VPS13A ENSG00000197969 VPS13A 1908 605978 Q96RL7 CHAC KIAA0986 Vacuolar protein sorting 13 homolog A (S. cerevisiae) hrdo:gen_id_15711 VPS13B ENSG00000132549 VPS13B 2183 607817 Q7Z7G8 CHS1 COH1 Vacuolar protein sorting 13 homolog B (yeast) hrdo:gen_id_15712 VPS33B ENSG00000184056 VPS33B 12712 608552 Q9H267 FLJ14848 Vacuolar protein sorting 33 homolog B (yeast) hrdo:gen_id_15713 VSX1 ENSG00000100987 VSX1 12723 605020 Q9NZR4 PPCD PPD Visual system homeobox 1 hrdo:gen_id_15714 VWF ENSG00000110799 VWF 12726 613160 P04275 P04275 F8VWF Von Willebrand factor hrdo:gen_id_15715 WAS ENSG00000015285 WAS 12731 300392 P42768 P42768 IMD2 THC WASP Wiskott-Aldrich syndrome (eczema-thrombocytopenia) hrdo:gen_id_15716 WBSCR16 ENSG00000174374 WBSCR16 14948 Q96I51 Williams-Beuren syndrome chromosome region 16 hrdo:gen_id_15717 WBSCR22 ENSG00000071462 WBSCR22 16405 O43709 MGC19709 MGC2022 MGC5140 PP3381 WBMT Williams Beuren syndrome chromosome region 22 hrdo:gen_id_15719 WBSCR27 ENSG00000165171 WBSCR27 19068 Q8N6F8 Williams Beuren syndrome chromosome region 27 hrdo:gen_id_15720 WDR36 ENSG00000134987 WDR36 30696 609669 Q8NI36 GLC1G TA-WDRP UTP21 WD repeat domain 36 hrdo:gen_id_15721 WFS1 ENSG00000109501 WFS1 12762 606201 O76024 O76024 DFNA14 DFNA38 DFNA6 DIDMOAD WFS Wolfram syndrome 1 (wolframin) hrdo:gen_id_15722 WHSC1 ENSG00000109685 WHSC1 12766 602952 O96028 MMSET NSD2 Wolf-Hirschhorn syndrome candidate 1 hrdo:gen_id_15723 WHSC2 ENSG00000185049 WHSC2 12768 606026 Q9H3P2 Q9H3P2 NELF-A Wolf-Hirschhorn syndrome candidate 2 hrdo:gen_id_15724 WISP3 ENSG00000112761 WISP3 12771 603400 O95389 CCN6 WNT1 inducible signaling pathway protein 3 hrdo:gen_id_15725 WNK1 ENSG00000060237 WNK1 14540 605232 Q9H4A3 HSAN2 HSN2 PRKWNK1 WNK lysine deficient protein kinase 1 hrdo:gen_id_15726 WNK4 ENSG00000126562 WNK4 14544 601844 Q96J92 PRKWNK4 WNK lysine deficient protein kinase 4 hrdo:gen_id_15727 WNT3 ENSG00000108379 WNT3 12782 165330 P56703 P56703 INT4 Wingless-type MMTV integration site family, member 3 hrdo:gen_id_15728 WNT4 ENSG00000162552 WNT4 12783 603490 P56705 P56705 WNT-4 Wingless-type MMTV integration site family, member 4 hrdo:gen_id_15729 WNT7A ENSG00000154764 WNT7A 12786 601570 O00755 O00755 Wingless-type MMTV integration site family, member 7A hrdo:gen_id_15730 WRN ENSG00000165392 WRN 12791 604611 Q14191 RECQ3 RECQL2 Werner syndrome gene hrdo:gen_id_15731 WT1 ENSG00000184937 WT1 12796 607102 P19544 GUD WAGR WIT-2 Wilms tumor 1 hrdo:gen_id_15732 WWOX ENSG00000186153 WWOX 12799 605131 Q9NZC7 Q9NZC7 FOR WOX1 WW domain containing oxidoreductase hrdo:gen_id_15733 XDH ENSG00000158125 XDH 12805 607633 P47989 P47989 XO XOR Xanthine dehydrogenase hrdo:gen_id_15734 XK ENSG00000047597 XK 12811 314850 P51811 Kx X1k XKR1 X-linked Kx blood group (McLeod syndrome) hrdo:gen_id_15735 XPA ENSG00000136936 XPA 12814 611153 P23025 P23025 XP1 XPAC Xeroderma pigmentosum, complementation group A hrdo:gen_id_15736 XPC ENSG00000154767 XPC 12816 613208 Q01831 Q01831 XPCC Xeroderma pigmentosum, complementation group C hrdo:gen_id_15738 ZAP70 ENSG00000115085 ZAP70 12858 176947 P43403 P43403 SRK STD ZAP-70 Zeta-chain (TCR) associated protein kinase 70kDa hrdo:gen_id_15739 ZEB1 ENSG00000148516 ZEB1 11642 189909 P37275 AREB6 BZP NIL-2-A TCF8 ZEB Zfhep Zfhx1a Zinc finger E-box binding homeobox 1 hrdo:gen_id_15740 ZEB2 ENSG00000169554 ZEB2 14881 605802 O60315 KIAA0569 SIP-1 ZFHX1B Zinc finger E-box binding homeobox 2 hrdo:gen_id_15741 ZFPM2 ENSG00000169946 ZFPM2 16700 603693 Q8WW38 Q8WW38 FOG2 ZNF89B hFOG-2 Zinc finger protein, multitype 2 hrdo:gen_id_15743 ZIC1 ENSG00000152977 ZIC1 12872 600470 Q15915 ZIC ZNF201 Zic family member 1 (odd-paired homolog, Drosophila) hrdo:gen_id_15744 ZIC2 ENSG00000043355 ZIC2 12873 603073 O95409 HPE5 Zic family member 2 (odd-paired homolog, Drosophila) hrdo:gen_id_15745 ZIC3 ENSG00000156925 ZIC3 12874 300265 O60481 HTX HTX1 ZNF203 Zic family member 3 heterotaxy 1 (odd-paired homolog, Drosophila) hrdo:gen_id_15746 ZIC4 ENSG00000174963 ZIC4 20393 608948 Q8N9L1 Zic family member 4 hrdo:gen_id_15747 ZMPSTE24 ENSG00000084073 ZMPSTE24 12877 606480 O75844 FACE-1 STE24 Zinc metallopeptidase (STE24 homolog, S. cerevisiae) hrdo:gen_id_15748 CLDN16 ENSG00000113946 CLDN16 2037 603959 Q9Y5I7 Q9Y5I7 PCLN1 Claudin 16 hrdo:gen_id_15749 CLDN19 ENSG00000164007 CLDN19 2040 610036 Q8N6F1 Q8N6F1 Claudin 19 hrdo:gen_id_15750 CLIP2 ENSG00000106665 CLIP2 2586 603432 Q9UDT6 CLIP CLIP-115 CYLN2 KIAA0291 WBSCR4 WSCR4 CAP-GLY domain containing linker protein 2 hrdo:gen_id_15751 CLN3 ENSG00000188603 CLN3 2074 607042 Q13286 BTS Ceroid-lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease) hrdo:gen_id_15752 CLN5 ENSG00000102805 CLN5 2076 608102 O75503 Ceroid-lipofuscinosis, neuronal 5 hrdo:gen_id_15753 CLN6 ENSG00000128973 CLN6 2077 606725 Q9NWW5 FLJ20561 HsT18960 nclf Ceroid-lipofuscinosis, neuronal 6, late infantile, variant hrdo:gen_id_15754 CLN8 ENSG00000182372 CLN8 2079 607837 Q9UBY8 C8orf61 EPMR FLJ39417 Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) hrdo:gen_id_15755 CLRN1 ENSG00000163646 CLRN1 12605 606397 P58418 USH3 USH3A Clarin 1 hrdo:gen_id_15756 CNBP ENSG00000169714 CNBP 13164 116955 P62633 CNBP1 DM2 RNF163 ZCCHC22 ZNF9 CCHC-type zinc finger, nucleic acid binding protein hrdo:gen_id_15757 CNGA1 ENSG00000198515 CNGA1 2148 394 123825 P29973 CNCG CNCG1 CNG1 RCNC1 RCNCa Cyclic nucleotide gated channel alpha 1 hrdo:gen_id_15758 CNGA3 ENSG00000144191 CNGA3 2150 396 600053 Q16281 ACHM2 CCNC1 CCNCa CNCG3 CNG3 Cyclic nucleotide gated channel alpha 3 hrdo:gen_id_15759 CNGB3 ENSG00000170289 CNGB3 2153 399 605080 Q9NQW8 ACHM3 Cyclic nucleotide gated channel beta 3 hrdo:gen_id_15760 COCH ENSG00000100473 COCH 2180 603196 O43405 COCH-5B2 DFNA31 DFNA9 Coagulation factor C homolog, cochlin (Limulus polyphemus) hrdo:gen_id_15761 COG7 ENSG00000168434 COG7 18622 606978 P83436 Component of oligomeric golgi complex 7 hrdo:gen_id_15762 COL10A1 ENSG00000123500 COL10A1 2185 120110 Q03692 Collagen, type X, alpha 1(Schmid metaphyseal chondrodysplasia) hrdo:gen_id_15763 COL11A1 ENSG00000060718 COL11A1 2186 120280 P12107 COLL6 Collagen, type XI, alpha 1 hrdo:gen_id_15764 COL11A2 ENSG00000204248 COL11A2 2187 120290 P13942 DFNA13 DFNB53 HKE5 Collagen, type XI, alpha 2 hrdo:gen_id_15765 COL17A1 ENSG00000065618 COL17A1 2194 113811 Q9UMD9 Q9UMD9 BP180 BPAG2 Collagen, type XVII, alpha 1 hrdo:gen_id_15766 COL18A1 ENSG00000182871 COL18A1 2195 120328 P39060 Collagen, type XVIII, alpha 1 hrdo:gen_id_15767 COL1A1 ENSG00000108821 COL1A1 2197 120150 P02452 P02452 OI4 Collagen, type I, alpha 1 hrdo:gen_id_15768 COL1A2 ENSG00000164692 COL1A2 2198 120160 P08123 P08123 OI4 Collagen, type I, alpha 2 hrdo:gen_id_15769 COL2A1 ENSG00000139219 COL2A1 2200 120140 P02458 P02458 SEDC Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital) hrdo:gen_id_15770 COL3A1 ENSG00000168542 COL3A1 2201 120180 P02461 P02461 EDS4A Collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant) hrdo:gen_id_15771 COL4A1 ENSG00000187498 COL4A1 2202 120130 P02462 P02462 Collagen, type IV, alpha 1 hrdo:gen_id_15772 COL4A3 ENSG00000169031 COL4A3 2204 120070 Q01955 Q01955 Collagen, type IV, alpha 3 (Goodpasture antigen) hrdo:gen_id_15773 COL4A4 ENSG00000081052 COL4A4 2206 120131 P53420 P53420 Collagen, type IV, alpha 4 hrdo:gen_id_15774 COL4A5 ENSG00000188153 COL4A5 2207 303630 P29400 P29400 ASLN ATS Collagen, type IV, alpha 5 (Alport syndrome) hrdo:gen_id_15775 COL4A6 ENSG00000197565 COL4A6 2208 303631 Q14031 Collagen, type IV, alpha 6 hrdo:gen_id_15776 COL5A1 ENSG00000130635 COL5A1 2209 120215 P20908 P20908 Collagen, type V, alpha 1 hrdo:gen_id_15777 COL5A2 ENSG00000204262 COL5A2 2210 120190 P05997 P05997 Collagen, type V, alpha 2 hrdo:gen_id_15778 COL6A1 ENSG00000142156 COL6A1 2211 120220 P12109 P12109 Collagen, type VI, alpha 1 hrdo:gen_id_15779 COL6A2 ENSG00000142173 COL6A2 2212 120240 P12110 P12110 Collagen, type VI, alpha 2 hrdo:gen_id_15780 COL6A3 ENSG00000163359 COL6A3 2213 120250 P12111 P12111 Collagen, type VI, alpha 3 hrdo:gen_id_15781 COL7A1 ENSG00000114270 COL7A1 2214 120120 Q02388 EBD1 EBDCT EBR1 Collagen, type VII, alpha 1 hrdo:gen_id_15782 COL8A2 ENSG00000171812 COL8A2 2216 120252 P25067 FECD PPCD PPCD2 Collagen, type VIII, alpha 2 hrdo:gen_id_15783 COL9A1 ENSG00000112280 COL9A1 2217 120210 P20849 P20849 Collagen, type IX, alpha 1 hrdo:gen_id_15784 COL9A2 ENSG00000049089 COL9A2 2218 120260 Q14055 Q14055 EDM2 MED Collagen, type IX, alpha 2 hrdo:gen_id_15785 COL9A3 ENSG00000092758 COL9A3 2219 120270 Q14050 Q14050 DJ885L7.4.1 EDM3 FLJ90759 IDD MED Collagen, type IX, alpha 3 hrdo:gen_id_15786 COLQ ENSG00000206561 COLQ 2226 603033 Q9Y215 Collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase hrdo:gen_id_15787 COMP ENSG00000105664 COMP 2227 600310 P49747 EDM1 EPD1 MED PSACH THBS5 Cartilage oligomeric matrix protein hrdo:gen_id_15788 COQ2 ENSG00000173085 COQ2 25223 609825 Q96H96 Q96H96 CL640 FLJ26072 Coenzyme Q2 homolog, prenyltransferase (yeast) hrdo:gen_id_15789 COX10 ENSG00000006695 COX10 2260 602125 Q12887 COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) hrdo:gen_id_15790 COX15 ENSG00000014919 COX15 2263 603646 Q7KZN9 COX15 homolog, cytochrome c oxidase assembly protein (yeast) hrdo:gen_id_15791 CP ENSG00000047457 CP 2295 117700 P00450 P00450 Ceruloplasmin (ferroxidase) hrdo:gen_id_15792 CPA6 ENSG00000165078 CPA6 17245 609562 Q8N4T0 CPAH Carboxypeptidase A6 hrdo:gen_id_15793 CPOX ENSG00000080819 CPOX 2321 612732 P36551 P36551 CPO CPX HCP Coproporphyrinogen oxidase hrdo:gen_id_15794 CPS1 ENSG00000021826 CPS1 2323 608307 P31327 P31327 Carbamoyl-phosphate synthetase 1, mitochondrial hrdo:gen_id_15795 CPT1A ENSG00000110090 CPT1A 2328 600528 P50416 P50416 CPT1 CPT1-L L-CPT1 Carnitine palmitoyltransferase 1A (liver) hrdo:gen_id_15796 CPT2 ENSG00000157184 CPT2 2330 600650 P23786 P23786 CPT1 CPTASE Carnitine palmitoyltransferase II hrdo:gen_id_15797 CR1 ENSG00000203710 CR1 2334 120620 P17927 P17927 CD35 KN Complement component (3b/4b) receptor 1 (Knops blood group) hrdo:gen_id_15798 CRB1 ENSG00000134376 CRB1 2343 604210 P82279 LCA8 RP12 Crumbs homolog 1 (Drosophila) hrdo:gen_id_15800 CRBN ENSG00000113851 CRBN 30185 609262 Q96SW2 MRT2A Cereblon hrdo:gen_id_15801 CREBBP ENSG00000005339 CREBBP 2348 600140 Q92793 Q92793 CBP RSTS RTS CREB binding protein (Rubinstein-Taybi syndrome) hrdo:gen_id_15802 CRELD1 ENSG00000163703 CRELD1 14630 607170 Q96HD1 AVSD2 Cysteine-rich with EGF-like domains 1 hrdo:gen_id_15803 CRX ENSG00000105392 CRX 2383 602225 O43186 CORD2 CRD LCA7 OTX3 Cone-rod homeobox hrdo:gen_id_15804 CRYAA ENSG00000160202 CRYAA 2388 123580 P02489 CRYA1 HSPB4 Crystallin, alpha A hrdo:gen_id_15805 CRYAB ENSG00000109846 CRYAB 2389 123590 P02511 CRYA2 HSPB5 Crystallin, alpha B hrdo:gen_id_15806 CRYBA1 ENSG00000108255 CRYBA1 2394 123610 P05813 CRYB1 Crystallin, beta A1 hrdo:gen_id_15807 CRYBA4 ENSG00000196431 CRYBA4 2396 123631 P53673 Crystallin, beta A4 hrdo:gen_id_15808 CRYBB2 ENSG00000244752 CRYBB2 2398 123620 P43320 CCA2 CRYB2 CRYB2A Crystallin, beta B2 hrdo:gen_id_15809 CRYBB3 ENSG00000100053 CRYBB3 2400 123630 P26998 CRYB3 Crystallin, beta B3 hrdo:gen_id_15810 CRYGC ENSG00000163254 CRYGC 2410 123680 P07315 CRYG3 Crystallin, gamma C hrdo:gen_id_15811 CRYGD ENSG00000118231 CRYGD 2411 123690 P07320 CRYG4 Crystallin, gamma D hrdo:gen_id_15812 CSF2RB ENSG00000100368 CSF2RB 2436 138981 P32927 P32927 CD131 IL3RB IL5RB Colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) hrdo:gen_id_15813 CSRP3 ENSG00000129170 CSRP3 2472 600824 P50461 CLP CMD1M MLP Cysteine and glycine-rich protein 3 (cardiac LIM protein) hrdo:gen_id_15814 CST3 ENSG00000101439 CST3 2475 604312 P01034 P01034 Cystatin C (amyloid angiopathy and cerebral hemorrhage) hrdo:gen_id_15815 CSTB ENSG00000160213 CSTB 2482 601145 P04080 CST6 EPM1 PME STFB Cystatin B (stefin B) hrdo:gen_id_15816 CTDP1 ENSG00000060069 CTDP1 2498 604927 Q9Y5B0 Q9Y5B0 FCP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 hrdo:gen_id_15817 CTH ENSG00000116761 CTH 2501 607657 P32929 P32929 Cystathionase (cystathionine gamma-lyase) hrdo:gen_id_15818 CTLA4 ENSG00000163599 CTLA4 2505 123890 P16410 P16410 CD152 Cytotoxic T-lymphocyte-associated protein 4 hrdo:gen_id_15819 CTNNB1 ENSG00000168036 CTNNB1 2514 116806 P35222 P35222 CTNNB Catenin (cadherin-associated protein), beta 1, 88kDa hrdo:gen_id_15820 CTNS ENSG00000040531 CTNS 2518 606272 O60931 CTNS-LSB PQLC4 Cystinosis, nephropathic hrdo:gen_id_15821 CTSA ENSG00000064601 CTSA 9251 613111 P10619 P10619 GSL PPGB Cathepsin A hrdo:gen_id_15822 CTSC ENSG00000109861 CTSC 2528 602365 P53634 DPP1 PALS PLS Cathepsin C hrdo:gen_id_15823 CTSK ENSG00000143387 CTSK 2536 601105 P43235 P43235 CTSO CTSO2 PKND PYCD Cathepsin K hrdo:gen_id_15824 CUBN ENSG00000107611 CUBN 2548 602997 O60494 O60494 IFCR MGA1 gp280 Cubilin (intrinsic factor-cobalamin receptor) hrdo:gen_id_15825 CUL4B ENSG00000158290 CUL4B 2555 300304 Q13620 Cullin 4B hrdo:gen_id_15826 CUL7 ENSG00000044090 CUL7 21024 609577 Q14999 Q14999 KIAA0076 dJ20C7.5 Cullin 7 hrdo:gen_id_15827 CXCR4 ENSG00000121966 CXCR4 2561 71 162643 P61073 P61073 CD184 D2S201E HM89 HSY3RR LESTR NPY3R NPYR NPYY3R fusin Chemokine (C-X-C motif) receptor 4 hrdo:gen_id_15829 CYB5A ENSG00000166347 CYB5A 2570 613218 P00167 P00167 CYB5 Cytochrome b5 type A (microsomal) hrdo:gen_id_15830 CYB5R3 ENSG00000100243 CYB5R3 2873 613213 P00387 P00387 DIA1 Cytochrome b5 reductase 3 hrdo:gen_id_15831 CYBB ENSG00000165168 CYBB 2578 300481 P04839 P04839 CGD GP91-PHOX NOX2 Cytochrome b-245, beta polypeptide (chronic granulomatous disease) hrdo:gen_id_15832 CYLD ENSG00000083799 CYLD 2584 605018 Q9NQC7 Q9NQC7 CYLD1 KIAA0849 USPL2 Cylindromatosis (turban tumor syndrome) hrdo:gen_id_15833 CYP11A1 ENSG00000140459 CYP11A1 2590 118485 P05108 P05108 CYP11A P450SCC Cytochrome P450, family 11, subfamily A, polypeptide 1 hrdo:gen_id_15834 CYP11B1 ENSG00000160882 CYP11B1 2591 610613 P15538 P15538 CPN1 CYP11B FHI P450C11 Cytochrome P450, family 11, subfamily B, polypeptide 1 hrdo:gen_id_15835 CYP11B2 ENSG00000179142 CYP11B2 2592 124080 P19099 P19099 ALDOS CPN2 CYP11B CYP11BL P-450C18 P450aldo Cytochrome P450, family 11, subfamily B, polypeptide 2 hrdo:gen_id_15836 CYP17A1 ENSG00000148795 CYP17A1 2593 609300 P05093 P05093 CPT7 CYP17 P450C17 S17AH Cytochrome P450, family 17, subfamily A, polypeptide 1 hrdo:gen_id_15837 CYP19A1 ENSG00000137869 CYP19A1 2594 107910 P11511 P11511 ARO ARO1 CPV1 CYAR CYP19 P-450AROM Cytochrome P450, family 19, subfamily A, polypeptide 1 hrdo:gen_id_15838 CYP1B1 ENSG00000138061 CYP1B1 2597 601771 Q16678 Q16678 CP1B GLC3A Cytochrome P450, family 1, subfamily B, polypeptide 1 hrdo:gen_id_15839 CYP21A2 ENSG00000231852 CYP21A2 2600 613815 P08686 P08686 CA21H CAH1 CPS1 CYP21 CYP21B P450c21B Cytochrome P450, family 21, subfamily A, polypeptide 2 hrdo:gen_id_15840 CYP27A1 ENSG00000135929 CYP27A1 2605 606530 Q02318 Q02318 CP27 CTX CYP27 Cytochrome P450, family 27, subfamily A, polypeptide 1 hrdo:gen_id_15841 CYP27B1 ENSG00000111012 CYP27B1 2606 609506 O15528 O15528 CYP1 P450c1 PDDR VDD1 Cytochrome P450, family 27, subfamily B, polypeptide 1 hrdo:gen_id_15842 CYP2R1 ENSG00000186104 CYP2R1 20580 608713 Q6VVX0 Q6VVX0 Cytochrome P450, family 2, subfamily R, polypeptide 1 hrdo:gen_id_15843 CYP4V2 ENSG00000145476 CYP4V2 23198 608614 Q6ZWL3 CYP4AH1 Cytochrome P450, family 4, subfamily V, polypeptide 2 hrdo:gen_id_15844 CYP7B1 ENSG00000172817 CYP7B1 2652 603711 O75881 O75881 SPG5A Cytochrome P450, family 7, subfamily B, polypeptide 1 hrdo:gen_id_15845 D2HGDH ENSG00000180902 D2HGDH 28358 609186 Q8N465 Q8N465 D2HGD FLJ42195 MGC25181 D-2-hydroxyglutarate dehydrogenase hrdo:gen_id_15846 DAZ1 ENSG00000188120 DAZ1 2682 400003 Q9NQZ3 DAZ SPGY Deleted in azoospermia 1 hrdo:gen_id_15847 DAZ2 ENSG00000205944 DAZ2 15964 400026 Q13117 Deleted in azoospermia 2 hrdo:gen_id_15848 DAZ3 ENSG00000187191 DAZ3 15965 400027 Q9NR90 Deleted in azoospermia 3 hrdo:gen_id_15849 DAZ4 ENSG00000205916 DAZ4 15966 400003 Q86SG3 Deleted in azoospermia 4 hrdo:gen_id_15850 DBH ENSG00000123454 DBH 2689 609312 P09172 P09172 DBM Dopamine beta-hydroxylase (dopamine beta-monooxygenase) hrdo:gen_id_15851 DBT ENSG00000137992 DBT 2698 248610 P11182 P11182 Dihydrolipoamide branched chain transacylase E2 hrdo:gen_id_15852 DCLRE1C ENSG00000152457 DCLRE1C 17642 605988 Q96SD1 A-SCID ARTEMIS FLJ11360 SCIDA SNM1C DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae) hrdo:gen_id_15853 DCN ENSG00000011465 DCN 2705 125255 P07585 DSPG2 SLRR1B Decorin hrdo:gen_id_15854 DCX ENSG00000077279 DCX 2714 300121 O43602 O43602 DBCN DC LISX SCLH XLIS Doublecortin hrdo:gen_id_15855 DDB2 ENSG00000134574 DDB2 2718 600811 Q92466 Q92466 Damage-specific DNA binding protein 2, 48kDa hrdo:gen_id_15856 DDC ENSG00000132437 DDC 2719 107930 P20711 P20711 AADC Dopa decarboxylase (aromatic L-amino acid decarboxylase) hrdo:gen_id_15858 DES ENSG00000175084 DES 2770 125660 P17661 P17661 CMD1I Desmin hrdo:gen_id_15859 DFNA5 ENSG00000105928 DFNA5 2810 608798 O60443 ICERE-1 Deafness, autosomal dominant 5 hrdo:gen_id_15860 DGUOK ENSG00000114956 DGUOK 2858 601465 Q16854 Q16854 dGK Deoxyguanosine kinase hrdo:gen_id_15861 DHCR24 ENSG00000116133 DHCR24 2859 606418 Q15392 Q15392 KIAA0018 seladin-1 24-dehydrocholesterol reductase hrdo:gen_id_15862 DHCR7 ENSG00000172893 DHCR7 2860 602858 Q9UBM7 Q9UBM7 SLOS 7-dehydrocholesterol reductase hrdo:gen_id_15863 DHH ENSG00000139549 DHH 2865 605423 O43323 O43323 HHG-3 MGC35145 Desert hedgehog homolog (Drosophila) hrdo:gen_id_15864 DIAPH1 ENSG00000131504 DIAPH1 2876 602121 O60610 DFNA1 LFHL1 hDIA1 Diaphanous homolog 1 (Drosophila) hrdo:gen_id_15865 DIAPH2 ENSG00000147202 DIAPH2 2877 300108 O60879 DIA DIA2 POF POF2 Diaphanous homolog 2 (Drosophila) hrdo:gen_id_15866 DIRC1 ENSG00000174325 DIRC1 15760 606423 Q969H9 Disrupted in renal carcinoma 1 hrdo:gen_id_15867 DIRC2 ENSG00000138463 DIRC2 16628 602773 Q96SL1 FLJ14784 Disrupted in renal carcinoma 2 hrdo:gen_id_15868 DISC1 ENSG00000162946 DISC1 2888 605210 Q9NRI5 Disrupted in schizophrenia 1 hrdo:gen_id_15869 DKC1 ENSG00000130826 DKC1 2890 300126 O60832 O60832 DKC NAP57 NOLA4 XAP101 dyskerin Dyskeratosis congenita 1, dyskerin hrdo:gen_id_15870 DLAT ENSG00000150768 DLAT 2896 608770 P10515 P10515 DLTA PDC-E2 Dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex) hrdo:gen_id_15871 DLD ENSG00000091140 DLD 2898 238331 P09622 P09622 DLDH GCSL LAD Dihydrolipoamide dehydrogenase hrdo:gen_id_15873 DLL3 ENSG00000090932 DLL3 2909 602768 Q9NYJ7 SCDO1 Delta-like 3 (Drosophila) hrdo:gen_id_15874 DLX3 ENSG00000064195 DLX3 2916 600525 O60479 Distal-less homeobox 3 hrdo:gen_id_15876 DMD ENSG00000198947 DMD 2928 300377 P11532 P11532 BMD DXS142 DXS164 DXS206 DXS230 DXS239 DXS268 DXS269 DXS270 DXS272 Dystrophin (muscular dystrophy, Duchenne and Becker types) hrdo:gen_id_15877 DMP1 ENSG00000152592 DMP1 2932 600980 Q13316 Dentin matrix acidic phosphoprotein hrdo:gen_id_15878 DMPK ENSG00000104936 DMPK 2933 605377 Q09013 DM DM1 Dystrophia myotonica-protein kinase hrdo:gen_id_15879 DNAH11 ENSG00000105877 DNAH11 2942 603339 Q96DT5 Dnahc11 Dynein, axonemal, heavy chain 11 hrdo:gen_id_15880 DNAH5 ENSG00000039139 DNAH5 2950 603335 Q8TE73 CILD3 Dnahc5 HL1 PCD Dynein, axonemal, heavy chain 5 hrdo:gen_id_15881 DNAI1 ENSG00000122735 DNAI1 2954 604366 Q9UI46 CILD1 PCD Dynein, axonemal, intermediate chain 1 hrdo:gen_id_15882 DNM2 ENSG00000079805 DNM2 2974 602378 P50570 P50570 DYNII Dynamin 2 hrdo:gen_id_15883 DNMT3B ENSG00000088305 DNMT3B 2979 602900 Q9UBC3 DNA (cytosine-5-)-methyltransferase 3 beta hrdo:gen_id_15884 DOK7 ENSG00000175920 DOK7 26594 610285 Q18PE1 C4orf25 Dok-7 FLJ33718 FLJ39137 Docking protein 7 hrdo:gen_id_15885 DPAGT1 ENSG00000172269 DPAGT1 2995 191350 Q9H3H5 Q9H3H5 ALG7 CDG-Ij D11S366 DGPT DPAGT DPAGT2 GPT Dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) hrdo:gen_id_15886 DPM1 ENSG00000000419 DPM1 3005 603503 O60762 O60762 CDGIE MPDS Dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit hrdo:gen_id_15887 DPYD ENSG00000188641 DPYD 3012 612779 Q12882 Q12882 DPD Dihydropyrimidine dehydrogenase hrdo:gen_id_15888 DPYS ENSG00000147647 DPYS 3013 613326 Q14117 Q14117 DHPase Dihydropyrimidinase hrdo:gen_id_15889 DRD2 ENSG00000149295 DRD2 3023 215 126450 P14416 P14416 Dopamine receptor D2 hrdo:gen_id_15890 DRD3 ENSG00000151577 DRD3 3024 216 126451 P35462 P35462 Dopamine receptor D3 hrdo:gen_id_15891 DRD5 ENSG00000169676 DRD5 3026 218 126453 P21918 P21918 DRD1B DRD1L2 Dopamine receptor D5 hrdo:gen_id_15892 DSC2 ENSG00000134755 DSC2 3036 125645 Q02487 CDHF2 DSC3 Desmocollin 2 hrdo:gen_id_15893 DSG1 ENSG00000134760 DSG1 3048 125670 Q02413 Q02413 CDHF4 DSG Desmoglein 1 hrdo:gen_id_15894 DSG2 ENSG00000046604 DSG2 3049 125671 Q14126 Q14126 CDHF5 Desmoglein 2 hrdo:gen_id_15895 DSP ENSG00000096696 DSP 3052 125647 P15924 P15924 DPI DPII KPPS2 PPKS2 Desmoplakin hrdo:gen_id_15896 DSPP ENSG00000152591 DSPP 3054 125485 Q9NZW4 DFNA39 DGI1 DMP3 Dentin sialophosphoprotein hrdo:gen_id_15898 DTNA ENSG00000134769 DTNA 3057 601239 Q9Y4J8 D18S892E DRP3 DTN DTN-1 DTN-2 DTN-3 Dystrobrevin, alpha hrdo:gen_id_15899 DTNBP1 ENSG00000047579 DTNBP1 17328 607145 Q96EV8 Q96EV8 DBND Dysbindin HPS7 My031 Dystrobrevin binding protein 1 hrdo:gen_id_15900 DUOX2 ENSG00000140279 DUOX2 13273 606759 Q9NRD8 LNOX2 P138(TOX) P138-TOX THOX2 Dual oxidase 2 hrdo:gen_id_15901 DUX4 ENSG00000258389 DUX4 3082 606009 Q9UBX2 Double homeobox, 4 hrdo:gen_id_15902 DYM ENSG00000141627 DYM 21317 607461 Q7RTS9 DMC FLJ20071 SMC Dymeclin hrdo:gen_id_15903 DYSF ENSG00000135636 DYSF 3097 603009 O75923 FER1L1 LGMD2B Dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) hrdo:gen_id_15904 EBP ENSG00000147155 EBP 3133 300205 Q15125 Q15125 CDPX2 CPX CPXD Emopamil binding protein (sterol isomerase) hrdo:gen_id_15905 ECE1 ENSG00000117298 ECE1 3146 600423 P42892 ECE Endothelin converting enzyme 1 hrdo:gen_id_15907 ECM1 ENSG00000143369 ECM1 3153 602201 Q16610 Extracellular matrix protein 1 hrdo:gen_id_15908 EDA ENSG00000158813 EDA 3157 300451 Q92838 ED1 ED1-A1 ED1-A2 EDA1 EDA2 HED XHED XLHED Ectodysplasin A hrdo:gen_id_15909 EDAR ENSG00000135960 EDAR 2895 604095 Q9UNE0 DL ED1R ED3 ED5 EDA1R EDA3 Edar Ectodysplasin A receptor hrdo:gen_id_15910 EDARADD ENSG00000186197 EDARADD 14341 606603 Q8WWZ3 EDAR-associated death domain hrdo:gen_id_15911 EDN3 ENSG00000124205 EDN3 3178 131242 P14138 P14138 ET3 Endothelin 3 hrdo:gen_id_15912 EDNRB ENSG00000136160 EDNRB 3180 220 131244 P24530 P24530 ETB HSCR HSCR2 Endothelin receptor type B hrdo:gen_id_15913 EFEMP1 ENSG00000115380 EFEMP1 3218 601548 Q12805 DHRD FBLN3 FBNL MTLV S1-5 EGF-containing fibulin-like extracellular matrix protein 1 hrdo:gen_id_15914 EFEMP2 ENSG00000172638 EFEMP2 3219 604633 O95967 FBLN4 UPH1 EGF-containing fibulin-like extracellular matrix protein 2 hrdo:gen_id_15915 EFHC1 ENSG00000096093 EFHC1 16406 608815 Q5JVL4 EF-hand domain (C-terminal) containing 1 hrdo:gen_id_15916 EFNB1 ENSG00000090776 EFNB1 3226 300035 P98172 CFNS EPLG2 Elk-L LERK2 Ephrin-B1 hrdo:gen_id_15917 EGFR ENSG00000146648 EGFR 3236 131550 P00533 P00533 ERBB Epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian) hrdo:gen_id_15918 EGR2 ENSG00000122877 EGR2 3239 129010 P11161 P11161 KROX20 Early growth response 2 (Krox-20 homolog, Drosophila) hrdo:gen_id_15919 EIF2AK3 ENSG00000172071 EIF2AK3 3255 604032 Q9NZJ5 Q9NZJ5 PEK Eukaryotic translation initiation factor 2-alpha kinase 3 hrdo:gen_id_15920 EIF2B1 ENSG00000111361 EIF2B1 3257 606686 Q14232 Q14232 EIF-2B EIF-2Balpha EIF2B EIF2BA Eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa hrdo:gen_id_15921 EIF2B2 ENSG00000119718 EIF2B2 3258 606454 P49770 P49770 EIF-2Bbeta EIF2B Eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa hrdo:gen_id_15922 EIF2B3 ENSG00000070785 EIF2B3 3259 606273 Q9NR50 Q9NR50 EIF-2B EIF2Bgamma Eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa hrdo:gen_id_15923 EIF2B4 ENSG00000115211 EIF2B4 3260 606687 Q9UI10 Q9UI10 DKFZP586J0119 EIF-2B EIF2B EIF2Bdelta Eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa hrdo:gen_id_15924 EIF2B5 ENSG00000145191 EIF2B5 3261 603945 Q13144 Q13144 EIF-2B EIF2Bepsilon Eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa hrdo:gen_id_15926 AMPD1 ENSG00000116748 AMPD1 468 102770 P23109 P23109 MAD MADA Adenosine monophosphate deaminase 1 (isoform M) hrdo:gen_id_15928 AMPD3 ENSG00000133805 AMPD3 470 102772 Q01432 Q01432 Adenosine monophosphate deaminase (isoform E) hrdo:gen_id_15929 AMT ENSG00000145020 AMT 473 238310 P48728 GCST NKH Aminomethyltransferase hrdo:gen_id_15930 ANK1 ENSG00000029534 ANK1 492 612641 P16157 P16157 ANK SPH1 Ankyrin 1, erythrocytic hrdo:gen_id_15931 ANK2 ENSG00000145362 ANK2 493 106410 Q01484 Q01484 LQT4 Ankyrin 2, neuronal hrdo:gen_id_15932 ANKH ENSG00000154122 ANKH 15492 605145 Q9HCJ1 ANK CCAL2 CPPDD HANK Ankylosis, progressive homolog (mouse) hrdo:gen_id_15933 ANTXR2 ENSG00000163297 ANTXR2 21732 608041 P58335 CMG-2 CMG2 FLJ31074 Anthrax toxin receptor 2 hrdo:gen_id_15934 AP3B1 ENSG00000132842 AP3B1 566 603401 O00203 O00203 ADTB3A HPS2 Adaptor-related protein complex 3, beta 1 subunit hrdo:gen_id_15936 APOA1 ENSG00000118137 APOA1 600 107680 P02647 P02647 Apolipoprotein A-I hrdo:gen_id_15937 APOA5 ENSG00000110243 APOA5 17288 606368 Q6Q788 Q6Q788 APOA-V RAP3 Apolipoprotein A-V hrdo:gen_id_15938 APOB ENSG00000084674 APOB 603 107730 P04114 P04114 Apolipoprotein B (including Ag(x) antigen) hrdo:gen_id_15939 APOC2 ENSG00000234906 APOC2 609 608083 P02655 P02655 Apolipoprotein C-II hrdo:gen_id_15940 APOE ENSG00000130203 APOE 613 107741 P02649 P02649 AD2 Apolipoprotein E hrdo:gen_id_15941 APP ENSG00000142192 APP 620 104760 P05067 P05067 AD1 Amyloid beta (A4) precursor protein (peptidase nexin-II, Alzheimer disease) hrdo:gen_id_15943 APRT ENSG00000198931 APRT 626 102600 P07741 P07741 Adenine phosphoribosyltransferase hrdo:gen_id_15944 APTX ENSG00000137074 APTX 15984 606350 Q7Z2E3 AOA AOA1 AXA1 EAOH EOAHA FLJ20157 Aprataxin hrdo:gen_id_15945 AQP2 ENSG00000167580 AQP2 634 107777 P41181 P41181 Aquaporin 2 (collecting duct) hrdo:gen_id_15946 ARFGEF2 ENSG00000124198 ARFGEF2 15853 605371 Q9Y6D5 Q9Y6D5 BIG2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) hrdo:gen_id_15947 ARG1 ENSG00000118520 ARG1 663 608313 P05089 P05089 Arginase, liver hrdo:gen_id_15948 ARL11 ENSG00000152213 ARL11 24046 609351 Q969Q4 ARLTS1 FLJ33930 ADP-ribosylation factor-like 11 hrdo:gen_id_15949 ARL6 ENSG00000113966 ARL6 13210 608845 Q9H0F7 BBS3 ADP-ribosylation factor-like 6 hrdo:gen_id_15950 MANF ENSG00000145050 MANF 15461 601916 P55145 ARMET ARP Mesencephalic astrocyte-derived neurotrophic factor hrdo:gen_id_15951 ARSA ENSG00000100299 ARSA 713 607574 P15289 P15289 Arylsulfatase A hrdo:gen_id_15952 ARSB ENSG00000113273 ARSB 714 611542 P15848 Arylsulfatase B hrdo:gen_id_15953 ARSE ENSG00000157399 ARSE 719 300180 P51690 CDPX CDPX1 Arylsulfatase E (chondrodysplasia punctata 1) hrdo:gen_id_15954 ARVCF ENSG00000099889 ARVCF 728 602269 O00192 Armadillo repeat gene deletes in velocardiofacial syndrome hrdo:gen_id_15955 ARX ENSG00000004848 ARX 18060 300382 Q96QS3 ISSX MRX29 MRX32 MRX33 MRX36 MRX38 MRX43 MRX54 MRXS1 PRTS Aristaless related homeobox hrdo:gen_id_15956 ASAH1 ENSG00000104763 ASAH1 735 613468 Q13510 Q13510 AC ASAH FLJ21558 PHP32 N-acylsphingosine amidohydrolase (acid ceramidase) 1 hrdo:gen_id_15957 ASL ENSG00000126522 ASL 746 608310 P04424 P04424 Argininosuccinate lyase hrdo:gen_id_15958 ASPA ENSG00000108381 ASPA 756 608034 P45381 ACY2 ASP Aspartoacylase (Canavan disease) hrdo:gen_id_15959 ASPM ENSG00000066279 ASPM 19048 605481 Q8IZT6 ASP Calmbp1 FLJ10517 FLJ10549 MCPH5 Asp (abnormal spindle) homolog, microcephaly associated (Drosophila) hrdo:gen_id_15960 ASS1 ENSG00000130707 ASS1 758 603470 P00966 P00966 ASS CTLN1 Argininosuccinate synthetase 1 hrdo:gen_id_15961 ATCAY ENSG00000167654 ATCAY 779 608179 Q86WG3 Ataxia, cerebellar, Cayman type (caytaxin) hrdo:gen_id_15962 ATM ENSG00000149311 ATM 795 607585 Q13315 Q13315 ATA ATC ATD ATDC TEL1 TELO1 Ataxia telangiectasia mutated hrdo:gen_id_15963 ATN1 ENSG00000111676 ATN1 3033 607462 P54259 B37 D12S755E DRPLA Atrophin 1 hrdo:gen_id_15964 ATP10A ENSG00000206190 ATP10A 13542 605855 O60312 ATP10C ATPVA ATPVC KIAA0566 ATPase, Class V, type 10A hrdo:gen_id_15965 ATP13A2 ENSG00000159363 ATP13A2 30213 610513 Q9NQ11 HSA9947 PARK9 ATPase type 13A2 hrdo:gen_id_15966 ATP1A2 ENSG00000018625 ATP1A2 800 182340 P50993 P50993 FHM2 MHP2 ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide hrdo:gen_id_15967 ATP1A3 ENSG00000105409 ATP1A3 801 182350 P13637 P13637 DYT12 ATPase, Na+/K+ transporting, alpha 3 polypeptide hrdo:gen_id_15968 EIF4H ENSG00000106682 EIF4H 12741 603431 Q15056 Q15056 KIAA0038 WBSCR1 WSCR1 Eukaryotic translation initiation factor 4H hrdo:gen_id_15969 ELANE ENSG00000197561 ELANE 3309 130130 P08246 P08246 ELA2 HLE HNE NE Elastase, neutrophil expressed hrdo:gen_id_15970 ELAC2 ENSG00000006744 ELAC2 14198 605367 Q9BQ52 FLJ10530 HPC2 ElaC homolog 2 (E. coli) hrdo:gen_id_15971 ELN ENSG00000049540 ELN 3327 130160 P15502 SVAS WBS WS Elastin (supravalvular aortic stenosis, Williams-Beuren syndrome) hrdo:gen_id_15972 ELOVL4 ENSG00000118402 ELOVL4 14415 605512 Q9GZR5 Q9GZR5 STGD2 STGD3 Elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4 hrdo:gen_id_15973 EMD ENSG00000102119 EMD 3331 300384 P50402 STA Emerin (Emery-Dreifuss muscular dystrophy) hrdo:gen_id_15974 EMX2 ENSG00000170370 EMX2 3341 600035 Q04743 Empty spiracles homeobox 2 hrdo:gen_id_15975 EN2 ENSG00000164778 EN2 3343 131310 P19622 Engrailed homeobox 2 hrdo:gen_id_15976 ENAM ENSG00000132464 ENAM 3344 606585 Q9NRM1 AIH2 Enamelin hrdo:gen_id_15977 ENG ENSG00000106991 ENG 3349 131195 P17813 CD105 END HHT1 ORW ORW1 Endoglin (Osler-Rendu-Weber syndrome 1) hrdo:gen_id_15980 ENO3 ENSG00000108515 ENO3 3354 131370 P13929 P13929 Enolase 3 (beta, muscle) hrdo:gen_id_15981 ENPP1 ENSG00000197594 ENPP1 3356 173335 P22413 P22413 M6S1 NPPS PC-1 PCA1 PDNP1 Ectonucleotide pyrophosphatase/phosphodiesterase 1 hrdo:gen_id_15982 EP300 ENSG00000100393 EP300 3373 602700 Q09472 Q09472 p300 E1A binding protein p300 hrdo:gen_id_15983 EPB41 ENSG00000159023 EPB41 3377 130500 P11171 4.1R EL1 Erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) hrdo:gen_id_15984 EPHB2 ENSG00000133216 EPHB2 3393 600997 P29323 P29323 DRT EPHT3 ERK Hek5 Tyro5 EPH receptor B2 hrdo:gen_id_15985 EPHX1 ENSG00000143819 EPHX1 3401 132810 P07099 EPHX Epoxide hydrolase 1, microsomal (xenobiotic) hrdo:gen_id_15986 EPM2A ENSG00000112425 EPM2A 3413 607566 O95278 LD LDE Epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) hrdo:gen_id_15987 EPOR ENSG00000187266 EPOR 3416 133171 P19235 Erythropoietin receptor hrdo:gen_id_15988 ERC1 ENSG00000082805 ERC1 17072 607127 Q8IUD2 CAST2 ELKS KIAA1081 MGC12974 RAB6IP2 ELKS/RAB6-interacting/CAST family member 1 hrdo:gen_id_15989 ERCC2 ENSG00000104884 ERCC2 3434 126340 P18074 P18074 EM9 MAG XPD Excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D) hrdo:gen_id_15990 ERCC4 ENSG00000175595 ERCC4 3436 133520 Q92889 Q92889 RAD1 XPF Excision repair cross-complementing rodent repair deficiency, complementation group 4 hrdo:gen_id_15991 ERCC6 ENSG00000225830 ERCC6 3438 609413 Q03468 Q03468 CKN2 CSB RAD26 Excision repair cross-complementing rodent repair deficiency, complementation group 6 hrdo:gen_id_15992 ERCC8 ENSG00000049167 ERCC8 3439 609412 Q13216 Q13216 CKN1 CSA Excision repair cross-complementing rodent repair deficiency, complementation group 8 hrdo:gen_id_15993 ERG ENSG00000157554 ERG 3446 165080 P11308 V-ets erythroblastosis virus E26 oncogene homolog (avian) hrdo:gen_id_15994 ESCO2 ENSG00000171320 ESCO2 27230 609353 Q56NI9 EFO2 RBS Establishment of cohesion 1 homolog 2 (S. cerevisiae) hrdo:gen_id_15995 ESR1 ENSG00000091831 ESR1 3467 620 133430 P03372 P03372 ESR Era NR3A1 Estrogen receptor 1 hrdo:gen_id_15996 ETFA ENSG00000140374 ETFA 3481 608053 P13804 P13804 EMA GA2 MADD Electron-transfer-flavoprotein, alpha polypeptide (glutaric aciduria II) hrdo:gen_id_15997 ETFB ENSG00000105379 ETFB 3482 130410 P38117 P38117 Electron-transfer-flavoprotein, beta polypeptide hrdo:gen_id_15998 ETFDH ENSG00000171503 ETFDH 3483 231675 Q16134 Q16134 ETFQO Electron-transferring-flavoprotein dehydrogenase hrdo:gen_id_15999 ETHE1 ENSG00000105755 ETHE1 23287 608451 O95571 O95571 HSCO YF13H12 Ethylmalonic encephalopathy 1 hrdo:gen_id_16000 ETV1 ENSG00000006468 ETV1 3490 600541 P50549 ER81 Ets variant gene 1 hrdo:gen_id_16001 EVC ENSG00000072840 EVC 3497 604831 P57679 DWF-1 Ellis van Creveld syndrome hrdo:gen_id_16002 EVC2 ENSG00000173040 EVC2 19747 607261 Q86UK5 LBN Ellis van Creveld syndrome 2 (limbin) hrdo:gen_id_16003 EWSR1 ENSG00000182944 EWSR1 3508 133450 Q01844 EWS Ewing sarcoma breakpoint region 1 hrdo:gen_id_16004 EXT1 ENSG00000182197 EXT1 3512 608177 Q16394 ttv Exostoses (multiple) 1 hrdo:gen_id_16005 EXT2 ENSG00000151348 EXT2 3513 608210 Q93063 SOTV Exostoses (multiple) 2 hrdo:gen_id_16006 EYA1 ENSG00000104313 EYA1 3519 601653 Q99502 BOR Eyes absent homolog 1 (Drosophila) hrdo:gen_id_16007 EYA4 ENSG00000112319 EYA4 3522 603550 O95677 CMD1J DFNA10 Eyes absent homolog 4 (Drosophila) hrdo:gen_id_16008 F10 ENSG00000126218 F10 3528 613872 P00742 P00742 Coagulation factor X hrdo:gen_id_16009 F11 ENSG00000088926 F11 3529 264900 P03951 P03951 FXI Coagulation factor XI (plasma thromboplastin antecedent) hrdo:gen_id_16010 F12 ENSG00000131187 F12 3530 610619 P00748 P00748 Coagulation factor XII (Hageman factor) hrdo:gen_id_16011 F13A1 ENSG00000124491 F13A1 3531 134570 P00488 P00488 F13A Coagulation factor XIII, A1 polypeptide hrdo:gen_id_16012 F13B ENSG00000143278 F13B 3534 134580 P05160 P05160 FXIIIB Coagulation factor XIII, B polypeptide hrdo:gen_id_16013 F2 ENSG00000180210 F2 3535 176930 P00734 P00734 Coagulation factor II (thrombin) hrdo:gen_id_16014 F5 ENSG00000198734 F5 3542 612309 P12259 P12259 Coagulation factor V (proaccelerin, labile factor) hrdo:gen_id_16015 F7 ENSG00000057593 F7 3544 613878 P08709 P08709 Coagulation factor VII (serum prothrombin conversion accelerator) hrdo:gen_id_16016 F8 ENSG00000185010 F8 3546 300841 P00451 P00451 DXS1253E F8C FVIII HEMA Coagulation factor VIII, procoagulant component (hemophilia A) hrdo:gen_id_16017 F9 ENSG00000101981 F9 3551 300746 P00740 P00740 FIX Coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B) hrdo:gen_id_16018 FAH ENSG00000103876 FAH 3579 613871 P16930 P16930 Fumarylacetoacetate hydrolase (fumarylacetoacetase) hrdo:gen_id_16019 FAM126A ENSG00000122591 FAM126A 24587 610531 Q9BYI3 DRCTNNB1A HCC hyccin Family with sequence similarity 126, member A hrdo:gen_id_16020 FANCA ENSG00000187741 FANCA 3582 607139 O15360 O15360 FA-H FAA FACA FAH FANCH Fanconi anemia, complementation group A hrdo:gen_id_16021 FANCB ENSG00000181544 FANCB 3583 300515 Q8NB91 Q8NB91 FAAP95 FAB FLJ34064 Fanconi anemia, complementation group B hrdo:gen_id_16022 FANCC ENSG00000158169 FANCC 3584 613899 Q00597 Q00597 FAC FACC Fanconi anemia, complementation group C hrdo:gen_id_16023 FANCD2 ENSG00000144554 FANCD2 3585 613984 Q9BXW9 Q9BXW9 FA-D2 FACD FAD FANCD Fanconi anemia, complementation group D2 hrdo:gen_id_16024 FANCE ENSG00000112039 FANCE 3586 613976 Q9HB96 Q9HB96 FACE FAE Fanconi anemia, complementation group E hrdo:gen_id_16025 FANCF ENSG00000183161 FANCF 3587 613897 Q9NPI8 Q9NPI8 FAF Fanconi anemia, complementation group F hrdo:gen_id_16026 FANCG ENSG00000221829 FANCG 3588 602956 O15287 O15287 FAG XRCC9 Fanconi anemia, complementation group G hrdo:gen_id_16027 FANCL ENSG00000115392 FANCL 20748 608111 Q9NW38 Q9NW38 FLJ10335 PHF9 Fanconi anemia, complementation group L hrdo:gen_id_16028 FANCM ENSG00000187790 FANCM 23168 609644 Q8IYD8 Q8IYD8 KIAA1596 Fanconi anemia, complementation group M hrdo:gen_id_16029 FAS ENSG00000026103 FAS 11920 134637 P25445 P25445 APO-1 APT1 CD95 FAS1 TNFRSF6 Fas (TNF receptor superfamily, member 6) hrdo:gen_id_16030 FASLG ENSG00000117560 FASLG 11936 134638 P48023 P48023 APT1LG1 CD178 FasL TNFSF6 Fas ligand (TNF superfamily, member 6) hrdo:gen_id_16031 FBLN5 ENSG00000140092 FBLN5 3602 604580 Q9UBX5 ARMD3 DANCE EVEC UP50 Fibulin 5 hrdo:gen_id_16032 FBN1 ENSG00000166147 FBN1 3603 134797 P35555 P35555 FBN MASS MFS1 OCTD SGS WMS Fibrillin 1 hrdo:gen_id_16033 FBN2 ENSG00000138829 FBN2 3604 612570 P35556 CCA Fibrillin 2 (congenital contractural arachnodactyly) hrdo:gen_id_16034 FBP1 ENSG00000165140 FBP1 3606 229700 P09467 P09467 FBP Fructose-1,6-bisphosphatase 1 hrdo:gen_id_16035 FBXO11 ENSG00000138081 FBXO11 13590 607871 Q86XK2 FBX11 PRMT9 F-box protein 11 hrdo:gen_id_16036 FBXW4 ENSG00000107829 FBXW4 10847 608071 P57775 P57775 Fbw4 SHFM3 dactylin F-box and WD repeat domain containing 4 hrdo:gen_id_16037 FKTN ENSG00000106692 FKTN 3622 607440 O75072 FCMD Fukuyama type congenital muscular dystrophy fukutin Fukutin hrdo:gen_id_16039 FECH ENSG00000066926 FECH 3647 612386 P22830 P22830 Ferrochelatase (protoporphyria) hrdo:gen_id_16040 FGA ENSG00000171560 FGA 3661 134820 P02671 P02671 Fibrinogen alpha chain hrdo:gen_id_16041 FGB ENSG00000171564 FGB 3662 134830 P02675 P02675 Fibrinogen beta chain hrdo:gen_id_16042 FGD1 ENSG00000102302 FGD1 3663 300546 P98174 P98174 FGDY ZFYVE3 FYVE, RhoGEF and PH domain containing 1 (faciogenital dysplasia) hrdo:gen_id_16043 FGF10 ENSG00000070193 FGF10 3666 602115 O15520 O15520 Fibroblast growth factor 10 hrdo:gen_id_16044 FGF14 ENSG00000102466 FGF14 3671 601515 Q92915 FHF4 SCA27 Fibroblast growth factor 14 hrdo:gen_id_16045 FGF23 ENSG00000118972 FGF23 3680 605380 Q9GZV9 Q9GZV9 Fibroblast growth factor 23 hrdo:gen_id_16046 FGFR1 ENSG00000077782 FGFR1 3688 136350 P11362 P11362 BFGFR CD331 CEK FLG FLT2 Fms-related tyrosine kinase 2 H2 H3 H4 H5 KAL2 N-SAM Fibroblast growth factor receptor 1 hrdo:gen_id_16047 FGFR3 ENSG00000068078 FGFR3 3690 134934 P22607 P22607 ACH CD333 CEK2 JTK4 Fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism) hrdo:gen_id_16048 FGG ENSG00000171557 FGG 3694 134850 P02679 P02679 Fibrinogen gamma chain hrdo:gen_id_16049 FH ENSG00000091483 FH 3700 136850 P07954 P07954 fumarase Fumarate hydratase hrdo:gen_id_16050 FHIT ENSG00000189283 FHIT 3701 601153 P49789 AP3Aase FRA3B Fragile histidine triad gene hrdo:gen_id_16051 FIP1L1 ENSG00000145216 FIP1L1 19124 607686 Q6UN15 DKFZp586K0717 FIP1 like 1 (S. cerevisiae) hrdo:gen_id_16052 FKBP6 ENSG00000077800 FKBP6 3722 604839 O75344 O75344 FK506 binding protein 6, 36kDa hrdo:gen_id_16053 FKRP ENSG00000181027 FKRP 17997 606596 Q9H9S5 LGMD2I MDC1C Fukutin related protein hrdo:gen_id_16054 FLCN ENSG00000154803 FLCN 27310 607273 Q8NFG4 BHD MGC17998 MGC23445 Folliculin hrdo:gen_id_16055 FLG ENSG00000143631 FLG 3748 135940 P20930 Filaggrin hrdo:gen_id_16056 FLI1 ENSG00000151702 FLI1 3749 193067 Q01543 EWSR2 SIC-1 Friend leukemia virus integration 1 hrdo:gen_id_16057 FLII ENSG00000177731 FLII 3750 600362 Q13045 FLI Flightless I homolog (Drosophila) hrdo:gen_id_16058 FLNA ENSG00000196924 FLNA 3754 300017 P21333 P21333 ABP-280 FLN FLN1 OPD1 OPD2 Filamin A, alpha (actin binding protein 280) hrdo:gen_id_16059 FLNB ENSG00000136068 FLNB 3755 603381 O75369 O75369 ABP-278 FH1 FLN1L TABP TAP Filamin B, beta (actin binding protein 278) hrdo:gen_id_16060 FLNC ENSG00000128591 FLNC 3756 102565 Q14315 Q14315 ABP-280 ABPL FLN2 Filamin C, gamma (actin binding protein 280) hrdo:gen_id_16061 FLT4 ENSG00000037280 FLT4 3767 136352 P35916 P35916 PCL VEGFR3 Fms-related tyrosine kinase 4 hrdo:gen_id_16062 FMO3 ENSG00000007933 FMO3 3771 136132 P31513 P31513 Flavin containing monooxygenase 3 hrdo:gen_id_16063 FMR1 ENSG00000102081 FMR1 3775 309550 Q06787 FMRP FRAXA MGC87458 Fragile X mental retardation 1 hrdo:gen_id_16064 FOXC1 ENSG00000054598 FOXC1 3800 601090 Q12948 ARA FKHL7 FREAC3 IGDA IHG1 IRID1 Forkhead box C1 hrdo:gen_id_16065 FOXC2 ENSG00000176692 FOXC2 3801 602402 Q99958 FKHL14 MFH-1 Forkhead box C2 (MFH-1, mesenchyme forkhead 1) hrdo:gen_id_16066 FOXE1 ENSG00000178919 FOXE1 3806 602617 O00358 FKHL15 TITF2 TTF-2 Forkhead box E1 (thyroid transcription factor 2) hrdo:gen_id_16067 FOXE3 ENSG00000186790 FOXE3 3808 601094 Q13461 FKHL12 FREAC8 Forkhead box E3 hrdo:gen_id_16068 FOXL2 ENSG00000183770 FOXL2 1092 605597 P58012 BPES BPES1 Forkhead box L2 hrdo:gen_id_16069 FOXO1 ENSG00000150907 FOXO1 3819 136533 Q12778 Q12778 FKH1 FKHR FOXO1A Forkhead box O1 hrdo:gen_id_16070 FOXP3 ENSG00000049768 FOXP3 6106 300292 Q9BZS1 AIID DIETER IPEX JM2 PIDX SCURFIN XPID Forkhead box P3 hrdo:gen_id_16071 FRAS1 ENSG00000138759 FRAS1 19185 607830 Q86XX4 FLJ14927 FLJ22031 KIAA1500 Fraser syndrome 1 hrdo:gen_id_16072 FREM2 ENSG00000150893 FREM2 25396 608945 Q5SZK8 DKFZp686J0811 FRAS1 related extracellular matrix protein 2 hrdo:gen_id_16073 FRG1 ENSG00000109536 FRG1 3954 601278 Q14331 FSG1 FSHD region gene 1 hrdo:gen_id_16074 FRMD7 ENSG00000165694 FRMD7 8079 300628 Q6ZUT3 FLJ43346 NYS NYS1 FERM domain containing 7 hrdo:gen_id_16075 FSCN2 ENSG00000186765 FSCN2 3960 607643 O14926 RP30 Fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) hrdo:gen_id_16076 FSHB ENSG00000131808 FSHB 3964 136530 P01225 P01225 Follicle stimulating hormone, beta polypeptide hrdo:gen_id_16077 FSHR ENSG00000170820 FSHR 3969 253 136435 P23945 P23945 FSHRO LGR1 ODG1 Follicle stimulating hormone receptor hrdo:gen_id_16078 FST ENSG00000134363 FST 3971 136470 P19883 FS Follistatin hrdo:gen_id_16079 FTCD ENSG00000160282 FTCD 3974 606806 O95954 O95954 Formiminotransferase cyclodeaminase hrdo:gen_id_16080 FTL ENSG00000087086 FTL 3999 134790 P02792 P02792 Ferritin, light polypeptide hrdo:gen_id_16081 FTSJ1 ENSG00000068438 FTSJ1 13254 300499 Q9UET6 CDLIV JM23 MRX44 MRX9 SPB1 TRM7 FtsJ homolog 1 (E. coli) hrdo:gen_id_16082 FUCA1 ENSG00000179163 FUCA1 4006 612280 P04066 Fucosidase, alpha-L- 1, tissue hrdo:gen_id_16083 FXN ENSG00000165060 FXN 3951 606829 Q16595 Q16595 CyaY FA FARR FRDA X25 Frataxin hrdo:gen_id_16084 FXYD2 ENSG00000137731 FXYD2 4026 601814 P54710 P54710 ATP1G1 HOMG2 MGC12372 FXYD domain containing ion transport regulator 2 hrdo:gen_id_16085 FZD4 ENSG00000174804 FZD4 4042 232 604579 Q9ULV1 Q9ULV1 EVR1 Frizzled homolog 4 (Drosophila) hrdo:gen_id_16086 G6PC ENSG00000131482 G6PC 4056 613742 P35575 P35575 G6PT GSD1a Glucose-6-phosphatase, catalytic subunit hrdo:gen_id_16087 G6PD ENSG00000160211 G6PD 4057 305900 P11413 P11413 G6PD1 Glucose-6-phosphate dehydrogenase hrdo:gen_id_16088 GAA ENSG00000171298 GAA 4065 606800 P10253 Glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II) hrdo:gen_id_16089 GABRA1 ENSG00000022355 GABRA1 4075 404 137160 P14867 P14867 Gamma-aminobutyric acid (GABA) A receptor, alpha 1 hrdo:gen_id_16090 GABRD ENSG00000187730 GABRD 4084 416 137163 O14764 Gamma-aminobutyric acid (GABA) A receptor, delta hrdo:gen_id_16091 GABRG2 ENSG00000113327 GABRG2 4087 414 137164 P18507 P18507 Gamma-aminobutyric acid (GABA) A receptor, gamma 2 hrdo:gen_id_16092 GALC ENSG00000054983 GALC 4115 606890 P54803 P54803 Galactosylceramidase hrdo:gen_id_16093 GALE ENSG00000117308 GALE 4116 606953 Q14376 Q14376 UDP-galactose-4-epimerase hrdo:gen_id_16094 GALK1 ENSG00000108479 GALK1 4118 604313 P51570 P51570 GALK Galactokinase 1 hrdo:gen_id_16095 GALNS ENSG00000141012 GALNS 4122 253000 P34059 GALNAC6S GAS Galactosamine (N-acetyl)-6-sulfate sulfatase (Morquio syndrome, mucopolysaccharidosis type IVA) hrdo:gen_id_16096 GALNT3 ENSG00000115339 GALNT3 4125 601756 Q14435 Q14435 GalNAc-T3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) hrdo:gen_id_16097 GALT ENSG00000213930 GALT 4135 606999 P07902 P07902 Galactose-1-phosphate uridylyltransferase hrdo:gen_id_16098 GAMT ENSG00000130005 GAMT 4136 601240 Q14353 Q14353 PIG2 TP53I2 Guanidinoacetate N-methyltransferase hrdo:gen_id_16099 GAN ENSG00000127688 GAN 4137 605379 Q9H2C0 Q9H2C0 GAN1 KLHL16 Giant axonal neuropathy (gigaxonin) hrdo:gen_id_16101 GARS ENSG00000106105 GARS 4162 600287 P41250 P41250 CMT2D DSMAV GlyRS SMAD1 Glycyl-tRNA synthetase hrdo:gen_id_16102 GATA1 ENSG00000102145 GATA1 4170 305371 P15976 P15976 ERYF1 GF1 NFE1 GATA binding protein 1 (globin transcription factor 1) hrdo:gen_id_16103 GATA3 ENSG00000107485 GATA3 4172 131320 P23771 P23771 GATA binding protein 3 hrdo:gen_id_16104 GATA4 ENSG00000136574 GATA4 4173 600576 P43694 P43694 GATA binding protein 4 hrdo:gen_id_16105 GATM ENSG00000171766 GATM 4175 602360 P50440 P50440 Glycine amidinotransferase (L-arginine:glycine amidinotransferase) hrdo:gen_id_16106 GBA ENSG00000177628 GBA 4177 606463 P04062 P04062 GBA1 GLUC Glucosidase, beta; acid (includes glucosylceramidase) Glucosylceramidase Glucosidase, beta, acid hrdo:gen_id_16107 GBE1 ENSG00000114480 GBE1 4180 607839 Q04446 Q04446 Glucan (1,4-alpha-), branching enzyme 1 (glycogen branching enzyme, Andersen disease, glycogen storage disease type IV) hrdo:gen_id_16108 GCDH ENSG00000105607 GCDH 4189 608801 Q92947 Q92947 ACAD5 Glutaryl-Coenzyme A dehydrogenase hrdo:gen_id_16109 GCH1 ENSG00000131979 GCH1 4193 600225 P30793 P30793 DYT5 GCH GTPCH1 GTP cyclohydrolase 1 (dopa-responsive dystonia) hrdo:gen_id_16110 GCK ENSG00000106633 GCK 4195 138079 P35557 P35557 HK4 MODY2 Glucokinase (hexokinase 4, maturity onset diabetes of the young 2) hrdo:gen_id_16111 GCLC ENSG00000001084 GCLC 4311 606857 P48506 P48506 GCS GLCL GLCLC Glutamate-cysteine ligase, catalytic subunit hrdo:gen_id_16112 GCSH ENSG00000140905 GCSH 4208 238330 P23434 Glycine cleavage system protein H (aminomethyl carrier) hrdo:gen_id_16113 GDAP1 ENSG00000104381 GDAP1 15968 606598 Q8TB36 Ganglioside-induced differentiation-associated protein 1 hrdo:gen_id_16114 GDF5 ENSG00000125965 GDF5 4220 601146 P43026 CDMP1 Growth differentiation factor 5 hrdo:gen_id_16115 GDI1 ENSG00000203879 GDI1 4226 300104 P31150 P31150 GDIL MRX41 MRX48 RABGDIA XAP-4 GDP dissociation inhibitor 1 hrdo:gen_id_16116 GDNF ENSG00000168621 GDNF 4232 600837 P39905 P39905 Glial cell derived neurotrophic factor hrdo:gen_id_16117 GFAP ENSG00000131095 GFAP 4235 137780 P14136 P14136 Glial fibrillary acidic protein hrdo:gen_id_16118 GFI1 ENSG00000162676 GFI1 4237 600871 Q99684 ZNF163 Growth factor independent 1 hrdo:gen_id_16119 GGCX ENSG00000115486 GGCX 4247 137167 P38435 P38435 VKCFD1 Gamma-glutamyl carboxylase hrdo:gen_id_16120 GGT1 ENSG00000100031 GGT1 4250 231950 P19440 P19440 CD224 D22S672 D22S732 GGT Gamma-glutamyltransferase 1 hrdo:gen_id_16121 GH1 ENSG00000259384 GH1 4261 139250 P01241 P01241 GH-N Growth hormone 1 hrdo:gen_id_16122 GHR ENSG00000112964 GHR 4263 600946 P10912 P10912 Growth hormone receptor hrdo:gen_id_16123 GHRHR ENSG00000106128 GHRHR 4266 247 139191 Q02643 Q02643 Growth hormone releasing hormone receptor hrdo:gen_id_16124 GIF ENSG00000134812 GIF 4268 609342 P27352 TCN3 Gastric intrinsic factor (vitamin B synthesis) hrdo:gen_id_16125 GJA1 ENSG00000152661 GJA1 4274 121014 P17302 P17302 CX43 GJAL ODD ODDD ODOD SDTY3 Gap junction protein, alpha 1, 43kDa hrdo:gen_id_16126 GJC2 ENSG00000198835 GJC2 17494 608803 Q5T442 Q5T442 CX46.6 CX47 GJA12 Gap junction protein, gamma 2, 47kDa hrdo:gen_id_16127 GJA3 ENSG00000121743 GJA3 4277 121015 Q9Y6H8 Q9Y6H8 CX46 CZP3 Gap junction protein, alpha 3, 46kDa hrdo:gen_id_16128 GJA8 ENSG00000121634 GJA8 4281 600897 P48165 P48165 CAE CAE1 CX50 CZP1 Gap junction protein, alpha 8, 50kDa hrdo:gen_id_16129 GJB1 ENSG00000169562 GJB1 4283 304040 P08034 P08034 CMTX CMTX1 CX32 Gap junction protein, beta 1, 32kDa hrdo:gen_id_16130 GJB2 ENSG00000165474 GJB2 4284 121011 P29033 P29033 CX26 DFNA3 DFNB1 NSRD1 Gap junction protein, beta 2, 26kDa hrdo:gen_id_16131 GJB3 ENSG00000188910 GJB3 4285 603324 O75712 O75712 CX31 DFNA2 Gap junction protein, beta 3, 31kDa hrdo:gen_id_16132 GJB4 ENSG00000189433 GJB4 4286 605425 Q9NTQ9 Q9NTQ9 CX30.3 Gap junction protein, beta 4 hrdo:gen_id_16133 GJB6 ENSG00000121742 GJB6 4288 604418 O95452 O95452 CX30 DFNA3 ED2 EDH HED Gap junction protein, beta 6 hrdo:gen_id_16134 GK ENSG00000198814 GK 4289 300474 P32189 P32189 GK1 GKD Glycerol kinase hrdo:gen_id_16135 GLA ENSG00000102393 GLA 4296 300644 P06280 P06280 GALA Galactosidase, alpha hrdo:gen_id_16136 GLB1 ENSG00000170266 GLB1 4298 611458 P16278 P16278 EBP ELNR1 Galactosidase, beta 1 hrdo:gen_id_16137 GLDC ENSG00000178445 GLDC 4313 238300 P23378 GCSP NKH Glycine dehydrogenase (decarboxylating) hrdo:gen_id_16139 GLI3 ENSG00000106571 GLI3 4319 165240 P10071 GCPS PAP-A PHS GLI-Kruppel family member GLI3 (Greig cephalopolysyndactyly syndrome) hrdo:gen_id_16140 GLMN ENSG00000174842 GLMN 14373 601749 Q92990 FAP48 FKBPAP GLML GVM VMGLOM Glomulin, FKBP associated protein hrdo:gen_id_16141 GLRA1 ENSG00000145888 GLRA1 4326 423 138491 P23415 P23415 STHE Glycine receptor, alpha 1 (startle disease/hyperekplexia) hrdo:gen_id_16142 GLRB ENSG00000109738 GLRB 4329 427 138492 P48167 P48167 Glycine receptor, beta hrdo:gen_id_16145 GLUD1 ENSG00000148672 GLUD1 4335 138130 P00367 P00367 GDH GLUD Glutamate dehydrogenase 1 hrdo:gen_id_16146 GM2A ENSG00000196743 GM2A 4367 613109 P17900 P17900 GM2 ganglioside activator hrdo:gen_id_16147 GNAS ENSG00000087460 GNAS 4392 139320 Q5JWF2 GNAS1 GNASXL GPSA NESP NESP55 SCG6 GNAS complex locus hrdo:gen_id_16148 GNAT1 ENSG00000114349 GNAT1 4393 139330 P11488 P11488 Guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 hrdo:gen_id_16149 GNAT2 ENSG00000134183 GNAT2 4394 139340 P19087 P19087 ACHM4 Guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 hrdo:gen_id_16150 GNE ENSG00000159921 GNE 23657 603824 Q9Y223 IBM2 Uae1 Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase hrdo:gen_id_16151 GNPAT ENSG00000116906 GNPAT 4416 602744 O15228 O15228 DAP-AT DAPAT DHAPAT Glyceronephosphate O-acyltransferase hrdo:gen_id_16152 GNPTAB ENSG00000111670 GNPTAB 29670 607840 Q3T906 GNPTA KIAA1208 MGC4170 N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits hrdo:gen_id_16153 GNPTG ENSG00000090581 GNPTG 23026 607838 Q9UJJ9 CAB56184 GNPTAG c316G12.3 N-acetylglucosamine-1-phosphate transferase, gamma subunit hrdo:gen_id_16154 GNRHR ENSG00000109163 GNRHR 4421 256 138850 P30968 P30968 GRHR LHRHR Gonadotropin-releasing hormone receptor hrdo:gen_id_16155 GNS ENSG00000135677 GNS 4422 607664 P15586 P15586 Glucosamine (N-acetyl)-6-sulfatase (Sanfilippo disease IIID) hrdo:gen_id_16156 GOLGA5 ENSG00000066455 GOLGA5 4428 606918 Q8TBA6 golgin-84 ret-II rfg5 Golgi autoantigen, golgin subfamily a, 5 hrdo:gen_id_16157 GP1BA ENSG00000185245 GP1BA 4439 606672 P07359 P07359 CD42b GP1B Glycoprotein Ib (platelet), alpha polypeptide hrdo:gen_id_16158 GP1BB ENSG00000203618 GP1BB 4440 138720 P13224 P13224 CD42c Glycoprotein Ib (platelet), beta polypeptide hrdo:gen_id_16159 GP9 ENSG00000169704 GP9 4444 173515 P14770 P14770 CD42a GPIX Glycoprotein IX (platelet) hrdo:gen_id_16160 GPC3 ENSG00000147257 GPC3 4451 300037 P51654 DGSX OCI-5 SDYS SGB SGBS SGBS1 Glypican 3 hrdo:gen_id_16161 GPHN ENSG00000171723 GPHN 15465 603930 Q9NQX3 Q9NQX3 KIAA1385 Gephyrin hrdo:gen_id_16162 GPI ENSG00000105220 GPI 4458 172400 P06744 P06744 AMF NLK Glucose phosphate isomerase hrdo:gen_id_16163 GPR143 ENSG00000101850 GPR143 20145 203 300808 P51810 OA1 G protein-coupled receptor 143 hrdo:gen_id_16164 GPR56 ENSG00000205336 GPR56 4512 186 604110 Q9Y653 TM7LN4 TM7XN1 G protein-coupled receptor 56 hrdo:gen_id_16165 GPR98 ENSG00000164199 GPR98 17416 189 602851 Q8WXG9 DKFZp761P0710 FEB4 KIAA0686 MASS1 USH2C VLGR1b G protein-coupled receptor 98 hrdo:gen_id_16166 GRHPR ENSG00000137106 GRHPR 4570 604296 Q9UBQ7 Q9UBQ7 GLXR PH2 Glyoxylate reductase/hydroxypyruvate reductase hrdo:gen_id_16167 GRIA3 ENSG00000125675 GRIA3 4573 446 305915 P42263 P42263 GLUR3 GLURC Glutamate receptor, ionotrophic, AMPA 3 hrdo:gen_id_16168 GRK1 ENSG00000185974 GRK1 10013 180381 Q15835 GPRK1 RHOK RK G protein-coupled receptor kinase 1 hrdo:gen_id_16169 GRM6 ENSG00000113262 GRM6 4598 294 604096 O15303 O15303 GPRC1F MGLUR6 mGlu6 Glutamate receptor, metabotropic 6 hrdo:gen_id_16170 GSN ENSG00000148180 GSN 4620 137350 P06396 P06396 Gelsolin (amyloidosis, Finnish type) hrdo:gen_id_16171 GSR ENSG00000104687 GSR 4623 138300 P00390 P00390 Glutathione reductase hrdo:gen_id_16172 GSS ENSG00000100983 GSS 4624 601002 P48637 P48637 Glutathione synthetase hrdo:gen_id_16173 GTF2H5 ENSG00000185068 GTF2H5 21157 608780 Q6ZYL4 C6orf175 FLJ30544 TFB5 TTD TTD-A bA120J8.2 General transcription factor IIH, polypeptide 5 hrdo:gen_id_16174 GTF2I ENSG00000077809 GTF2I 4659 601679 P78347 BAP-135 BTKAP1 DIWS IB291 SPIN TFII-I WBSCR6 General transcription factor II, i hrdo:gen_id_16175 GTF2IRD1 ENSG00000006704 GTF2IRD1 4661 604318 Q9UHL9 GTF3 MusTRD1 RBAP2 WBSCR11 WBSCR12 GTF2I repeat domain containing 1 hrdo:gen_id_16177 GUCA1A ENSG00000048545 GUCA1A 4678 600364 P43080 COD3 GCAP GCAP1 GUCA GUCA1 Guanylate cyclase activator 1A (retina) hrdo:gen_id_16178 GUCY2D ENSG00000132518 GUCY2D 4689 600179 Q02846 CORD5 CORD6 CYGD GUC1A4 GUC2D LCA LCA1 RETGC-1 ROS-GC1 retGC Guanylate cyclase 2D, membrane (retina-specific) hrdo:gen_id_16179 GUSB ENSG00000169919 GUSB 4696 611499 P08236 Glucuronidase, beta hrdo:gen_id_16180 GYS2 ENSG00000111713 GYS2 4707 138571 P54840 P54840 Glycogen synthase 2 (liver) hrdo:gen_id_16181 HADH ENSG00000138796 HADH 4799 601609 Q16836 Q16836 HADH1 HADHSC SCHAD Hydroxyacyl-Coenzyme A dehydrogenase hrdo:gen_id_16182 HAL ENSG00000084110 HAL 4806 609457 P42357 P42357 HIS Histidine ammonia-lyase hrdo:gen_id_16183 HAMP ENSG00000105697 HAMP 15598 606464 P81172 HEPC HFE2B LEAP-1 LEAP1 Hepcidin antimicrobial peptide hrdo:gen_id_16184 HAX1 ENSG00000143575 HAX1 16915 605998 O00165 HCLSBP1 HS1BP1 HCLS1 associated protein X-1 hrdo:gen_id_16185 HBA2 ENSG00000188536 HBA2 4824 141850 P69905 Hemoglobin, alpha 2 hrdo:gen_id_16186 HBB ENSG00000244734 HBB 4827 141900 P68871 P68871 Hemoglobin, beta hrdo:gen_id_16187 HCCS ENSG00000004961 HCCS 4837 300056 P53701 CCHL Holocytochrome c synthase (cytochrome c heme-lyase) hrdo:gen_id_16188 HCN4 ENSG00000138622 HCN4 16882 403 605206 Q9Y3Q4 Q9Y3Q4 Hyperpolarization activated cyclic nucleotide-gated potassium channel 4 hrdo:gen_id_16189 HCRT ENSG00000161610 HCRT 4847 602358 O43612 O43612 OX PPOX Hypocretin (orexin) neuropeptide precursor hrdo:gen_id_16190 HTT ENSG00000197386 HTT 4851 613004 P42858 HD IT15 Huntingtin (Huntington disease) hrdo:gen_id_16191 HDAC9 ENSG00000048052 HDAC9 14065 606543 Q9UKV0 Q9UKV0 HD7 HDAC HDAC7B KIAA0744 MITR Histone deacetylase 9 hrdo:gen_id_16192 HESX1 ENSG00000163666 HESX1 4877 601802 Q9UBX0 ANF RPX HESX homeobox 1 hrdo:gen_id_16193 HEXA ENSG00000213614 HEXA 4878 606869 P06865 P06865 Hexosaminidase A (alpha polypeptide) hrdo:gen_id_16194 HEXB ENSG00000049860 HEXB 4879 606873 P07686 P07686 Hexosaminidase B (beta polypeptide) hrdo:gen_id_16196 HGD ENSG00000113924 HGD 4892 607474 Q93099 Q93099 AKU HGO Homogentisate 1,2-dioxygenase (homogentisate oxidase) hrdo:gen_id_16197 HGSNAT ENSG00000165102 HGSNAT 26527 610453 Q68CP4 FLJ32731 HGNAT TMEM76 Heparan-alpha-glucosaminide N-acetyltransferase hrdo:gen_id_16198 HIC1 ENSG00000177374 HIC1 4909 603825 Q14526 ZBTB29 Hypermethylated in cancer 1 hrdo:gen_id_16199 HK1 ENSG00000156515 HK1 4922 142600 P19367 P19367 Hexokinase 1 hrdo:gen_id_16200 HLA-B ENSG00000223532 HLA-B 4932 142830 P03989 P03989 Major histocompatibility complex, class I, B hrdo:gen_id_16201 HLA-DRA ENSG00000204287 HLA-DRA 4947 142860 P01903 P01903 HLA-DRA1 Major histocompatibility complex, class II, DR alpha hrdo:gen_id_16202 HLA-DRB1 ENSG00000196126 HLA-DRB1 4948 142857 P04229 P04229 P13760 P13761 P20039 Q30134 Q30167 Q9TQE0 HLA-DR1B Major histocompatibility complex, class II, DR beta 1 hrdo:gen_id_16203 HLCS ENSG00000159267 HLCS 4976 609018 P50747 HCS Holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase) hrdo:gen_id_16205 HMBS ENSG00000256269 HMBS 4982 609806 P08397 P08397 PBGD UPS Hydroxymethylbilane synthase hrdo:gen_id_16206 HMCN1 ENSG00000143341 HMCN1 19194 608548 Q96RW7 ARMD1 FBLN6 FIBL6 Hemicentin 1 hrdo:gen_id_16207 HMGCL ENSG00000117305 HMGCL 5005 613898 P35914 P35914 HL 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria) hrdo:gen_id_16209 HMGCS2 ENSG00000134240 HMGCS2 5008 600234 P54868 P54868 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial) hrdo:gen_id_16210 HNF4A ENSG00000101076 HNF4A 5024 608 600281 P41235 P41235 HNF4 MODY MODY1 NR2A1 TCF14 Hepatocyte nuclear factor 4, alpha hrdo:gen_id_16211 HOXA13 ENSG00000106031 HOXA13 5102 142959 P31271 HOX1 HOX1J Homeobox A13 hrdo:gen_id_16212 HOXD13 ENSG00000128714 HOXD13 5136 142989 P35453 HOX4I SPD Homeobox D13 hrdo:gen_id_16213 HPD ENSG00000158104 HPD 5147 609695 P32754 P32754 4-HPPD 4HPPD GLOD3 PPD 4-hydroxyphenylpyruvate dioxygenase hrdo:gen_id_16214 HPRT1 ENSG00000165704 HPRT1 5157 308000 P00492 P00492 HGPRT HPRT Hypoxanthine phosphoribosyltransferase 1 (Lesch-Nyhan syndrome) hrdo:gen_id_16215 HPS1 ENSG00000107521 HPS1 5163 604982 Q92902 HPS Hermansky-Pudlak syndrome 1 hrdo:gen_id_16216 HPS3 ENSG00000163755 HPS3 15597 606118 Q969F9 SUTAL Hermansky-Pudlak syndrome 3 hrdo:gen_id_16217 HPS4 ENSG00000100099 HPS4 15844 606682 Q9NQG7 KIAA1667 LE Hermansky-Pudlak syndrome 4 hrdo:gen_id_16218 HPS5 ENSG00000110756 HPS5 17022 607521 Q9UPZ3 Hermansky-Pudlak syndrome 5 hrdo:gen_id_16219 HPS6 ENSG00000166189 HPS6 18817 607522 Q86YV9 FLJ22501 Hermansky-Pudlak syndrome 6 hrdo:gen_id_16220 HR ENSG00000168453 HR 5172 602302 O43593 ALUNC AU Hairless homolog (mouse) hrdo:gen_id_16221 HRAS ENSG00000174775 HRAS 5173 190020 P01112 P01112 HRAS1 V-Ha-ras Harvey rat sarcoma viral oncogene homolog hrdo:gen_id_16222 HSD11B2 ENSG00000176387 HSD11B2 5209 614232 P80365 Hydroxysteroid (11-beta) dehydrogenase 2 hrdo:gen_id_16223 HSD17B10 ENSG00000072506 HSD17B10 4800 300256 Q99714 Q99714 17b-HSD10 ABAD ERAB HADH2 MHBD Hydroxysteroid (17-beta) dehydrogenase 10 hrdo:gen_id_16224 HSD17B3 ENSG00000130948 HSD17B3 5212 605573 P37058 P37058 Hydroxysteroid (17-beta) dehydrogenase 3 hrdo:gen_id_16225 HSD17B4 ENSG00000133835 HSD17B4 5213 601860 P51659 P51659 DBP MFE-2 SDR8C1 Hydroxysteroid (17-beta) dehydrogenase 4 hrdo:gen_id_16226 HSD3B2 ENSG00000203859 HSD3B2 5218 613890 P26439 P26439 Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 hrdo:gen_id_16227 HSD3B7 ENSG00000099377 HSD3B7 18324 607764 Q9H2F3 Q9H2F3 C(27)-3BETA-HSD Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 hrdo:gen_id_16228 HSF4 ENSG00000102878 HSF4 5227 602438 Q9ULV5 CTM Heat shock transcription factor 4 hrdo:gen_id_16230 HSPB1 ENSG00000106211 HSPB1 5246 602195 P04792 P04792 HSP27 HSP28 Hs.76067 Hsp25 Heat shock 27kDa protein 1 hrdo:gen_id_16231 HSPB8 ENSG00000152137 HSPB8 30171 608014 Q9UJY1 E2IG1 H11 HSP22 HspB8 Heat shock 22kDa protein 8 hrdo:gen_id_16232 HSPBAP1 ENSG00000169087 HSPBAP1 16389 608263 Q96EW2 FLJ22623 PASS1 HSPB (heat shock 27kDa) associated protein 1 hrdo:gen_id_16233 HSPD1 ENSG00000144381 HSPD1 5261 118190 P10809 P10809 GROEL HSP60 SPG13 Heat shock 60kDa protein 1 (chaperonin) hrdo:gen_id_16234 HSPG2 ENSG00000142798 HSPG2 5273 142461 P98160 P98160 PRCAN SJS1 perlecan Heparan sulfate proteoglycan 2 hrdo:gen_id_16235 HTRA2 ENSG00000115317 HTRA2 14348 606441 O43464 OMI PRSS25 HtrA serine peptidase 2 hrdo:gen_id_16236 HYAL1 ENSG00000114378 HYAL1 5320 607071 Q12794 FUS2 HYAL-1 LUCA1 NAT6 Hyaluronoglucosaminidase 1 hrdo:gen_id_16237 HYLS1 ENSG00000198331 HYLS1 26558 610693 Q96M11 FLJ32915 Hydrolethalus syndrome 1 hrdo:gen_id_16238 ICOS ENSG00000163600 ICOS 5351 604558 Q9Y6W8 Q9Y6W8 AILIM CD278 Inducible T-cell co-stimulator hrdo:gen_id_16239 IDS ENSG00000010404 IDS 5389 300823 P22304 SIDS Iduronate 2-sulfatase (Hunter syndrome) hrdo:gen_id_16240 IDUA ENSG00000127415 IDUA 5391 252800 P35475 Iduronidase, alpha-L- hrdo:gen_id_16241 IFNG ENSG00000111537 IFNG 5438 147570 P01579 P01579 Interferon, gamma hrdo:gen_id_16242 IFNGR1 ENSG00000027697 IFNGR1 5439 107470 P15260 P15260 CD119 IFNGR Interferon gamma receptor 1 hrdo:gen_id_16243 IFNGR2 ENSG00000159128 IFNGR2 5440 147569 P38484 P38484 AF-1 IFNGT1 Interferon gamma receptor 2 (interferon gamma transducer 1) hrdo:gen_id_16244 IGBP1 ENSG00000089289 IGBP1 5461 300139 P78318 IBP1 Immunoglobulin (CD79A) binding protein 1 hrdo:gen_id_16245 IGF1 ENSG00000017427 IGF1 5464 147440 P05019 P05019 Insulin-like growth factor 1 (somatomedin C) hrdo:gen_id_16246 IGHG1 ENSG00000211896 IGHG1 5525 147100 P01857 P01857 Immunoglobulin heavy constant gamma 1 (G1m marker) hrdo:gen_id_16247 IGHM ENSG00000211899 IGHM 5541 147020 P01871 P01871 Immunoglobulin heavy constant mu hrdo:gen_id_16248 IGHMBP2 ENSG00000132740 IGHMBP2 5542 600502 P38935 CATF1 SMARD1 SMUBP2 Immunoglobulin mu binding protein 2 hrdo:gen_id_16249 IGLL1 ENSG00000128322 IGLL1 5870 146770 P15814 14,1 CD179B IGL5 IGLL IGVPB Immunoglobulin lambda-like polypeptide 1 hrdo:gen_id_16250 IHH ENSG00000163501 IHH 5956 600726 Q14623 Q14623 Indian hedgehog homolog (Drosophila) hrdo:gen_id_16251 IKBKAP ENSG00000070061 IKBKAP 5959 603722 O95163 DYS ELP1 IKAP IKI3 TOT1 Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein hrdo:gen_id_16252 IKBKG ENSG00000073009 IKBKG 5961 300248 Q9Y6K9 Q9Y6K9 FIP-3 FIP3 Fip3p IKK-gamma IP1 IP2 NEMO Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma hrdo:gen_id_16253 IL10 ENSG00000136634 IL10 5962 124092 P22301 CSIF IL-10 IL10A TGIF Interleukin 10 hrdo:gen_id_16254 IL12B ENSG00000113302 IL12B 5970 161561 P29460 CLMF IL-12B NKSF2 Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) hrdo:gen_id_16255 IL12RB1 ENSG00000096996 IL12RB1 5971 601604 P42701 CD212 IL12RB Interleukin 12 receptor, beta 1 hrdo:gen_id_16256 IL23R ENSG00000162594 IL23R 19100 607562 Q5VWK5 IL-23R Interleukin 23 receptor hrdo:gen_id_16257 IL2RG ENSG00000147168 IL2RG 6010 308380 P31785 P31785 CD132 IMD4 SCIDX1 Interleukin 2 receptor, gamma (severe combined immunodeficiency) hrdo:gen_id_16258 IMMP2L ENSG00000184903 IMMP2L 14598 605977 Q96T52 IMP2 IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) hrdo:gen_id_16259 IMPDH1 ENSG00000106348 IMPDH1 6052 146690 P20839 P20839 LCA11 RP10 sWSS2608 IMP (inosine monophosphate) dehydrogenase 1 hrdo:gen_id_16260 ING1 ENSG00000153487 ING1 6062 601566 Q9UK53 Inhibitor of growth family, member 1 hrdo:gen_id_16261 ING3 ENSG00000071243 ING3 14587 607493 Q9NXR8 Eaf4 FLJ20089 p47ING3 Inhibitor of growth family, member 3 hrdo:gen_id_16263 INSR ENSG00000171105 INSR 6091 147670 P06213 P06213 CD220 Insulin receptor hrdo:gen_id_16264 INVS ENSG00000119509 INVS 17870 243305 Q9Y283 NPHP2 Inversin hrdo:gen_id_16265 IQCB1 ENSG00000173226 IQCB1 28949 609237 Q15051 KIAA0036 NPHP5 IQ motif containing B1 hrdo:gen_id_16266 IRAK4 ENSG00000198001 IRAK4 17967 606883 Q9NWZ3 Q9NWZ3 NY-REN-64 Interleukin-1 receptor-associated kinase 4 hrdo:gen_id_16269 IRF6 ENSG00000117595 IRF6 6121 607199 O14896 O14896 OFC6 Interferon regulatory factor 6 hrdo:gen_id_16271 ITGA2B ENSG00000005961 ITGA2B 6138 607759 P08514 P08514 CD41 CD41B GP2B Integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) hrdo:gen_id_16272 ITGA6 ENSG00000091409 ITGA6 6142 147556 P23229 P23229 CD49f Integrin, alpha 6 hrdo:gen_id_16273 ITGB2 ENSG00000160255 ITGB2 6155 600065 P05107 P05107 CD18 LFA-1 MAC-1 MFI7 Integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) hrdo:gen_id_16274 ITGB3 ENSG00000259207 ITGB3 6156 173470 P05106 P05106 CD61 GP3A Integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) hrdo:gen_id_16275 ITGB4 ENSG00000132470 ITGB4 6158 147557 P16144 P16144 CD104 Integrin, beta 4 hrdo:gen_id_16276 ITM2B ENSG00000136156 ITM2B 6174 603904 Q9Y287 Q9Y287 BRI E25B E3-16 Integral membrane protein 2B hrdo:gen_id_16277 IVD ENSG00000128928 IVD 6186 607036 P26440 P26440 ACAD2 Isovaleryl Coenzyme A dehydrogenase hrdo:gen_id_16278 JAG1 ENSG00000101384 JAG1 6188 601920 P78504 P78504 AGS AHD AWS CD339 HJ1 JAGL1 Jagged 1 hrdo:gen_id_16279 JAK2 ENSG00000096968 JAK2 6192 147796 O60674 O60674 Janus kinase 2 (a protein tyrosine kinase) hrdo:gen_id_16280 JAK3 ENSG00000105639 JAK3 6193 600173 P52333 P52333 L-JAK Janus kinase 3 (a protein tyrosine kinase, leukocyte) hrdo:gen_id_16281 KDM5C ENSG00000126012 JARID1C 11114 314690 P41229 DXS1272E JARID1C SMCX XE169 Lysine (K)-specific demethylase 5C hrdo:gen_id_16282 JPH3 ENSG00000154118 JPH3 14203 605268 Q8WXH2 CAGL237 HDL2 JP-3 JP3 TNRC22 Junctophilin 3 hrdo:gen_id_16283 JUP ENSG00000173801 JUP 6207 173325 P14923 P14923 CTNNG DP3 DPIII PDGB PKGB Junction plakoglobin hrdo:gen_id_16284 KAL1 ENSG00000011201 KAL1 6211 300836 P23352 ADMLX KAL KALIG-1 Kallmann syndrome 1 sequence hrdo:gen_id_16285 KCNA1 ENSG00000111262 KCNA1 6218 538 176260 Q09470 Q09470 AEMK HUK1 Kv1.1 MBK1 RBK1 Potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) hrdo:gen_id_16286 KCNE1 ENSG00000180509 KCNE1 6240 176261 P15382 ISK JLNS2 minK Potassium voltage-gated channel, Isk-related family, member 1 hrdo:gen_id_16287 KCNE1L ENSG00000176076 KCNE1L 6241 300328 Q9UJ90 KCNE1-like hrdo:gen_id_16288 KCNE2 ENSG00000159197 KCNE2 6242 603796 Q9Y6J6 MiRP1 Potassium voltage-gated channel, Isk-related family, member 2 hrdo:gen_id_16289 KCNE3 ENSG00000175538 KCNE3 6243 604433 Q9Y6H6 HOKPP MiRP2 Potassium voltage-gated channel, Isk-related family, member 3 hrdo:gen_id_16290 KCNH2 ENSG00000055118 KCNH2 6251 572 152427 Q12809 Q12809 HERG Kv11.1 LQT2 erg1 Potassium voltage-gated channel, subfamily H (eag-related), member 2 hrdo:gen_id_16291 KCNJ1 ENSG00000151704 KCNJ1 6255 429 600359 P48048 P48048 Kir1.1 ROMK1 Potassium inwardly-rectifying channel, subfamily J, member 1 hrdo:gen_id_16292 KCNJ11 ENSG00000187486 KCNJ11 6257 442 600937 Q14654 Q14654 BIR Kir6.2 Potassium inwardly-rectifying channel, subfamily J, member 11 hrdo:gen_id_16293 KCNJ2 ENSG00000123700 KCNJ2 6263 430 600681 P63252 P63252 IRK1 Kir2.1 Potassium inwardly-rectifying channel, subfamily J, member 2 hrdo:gen_id_16294 KCNMA1 ENSG00000156113 KCNMA1 6284 380 600150 Q12791 Q12791 KCa1.1 SLO mSLO1 Potassium large conductance calcium-activated channel, subfamily M, alpha member 1 hrdo:gen_id_16295 KCNQ1 ENSG00000053918 KCNQ1 6294 560 607542 P51787 P51787 JLNS1 KCNA8 KCNA9 KVLQT1 Kv7.1 LQT Potassium voltage-gated channel, KQT-like subfamily, member 1 hrdo:gen_id_16296 KCNQ2 ENSG00000075043 KCNQ2 6296 561 602235 O43526 O43526 BFNC EBN EBN1 ENB1 HNSPC KCNA11 Kv7.2 Potassium voltage-gated channel, KQT-like subfamily, member 2 hrdo:gen_id_16297 KCNQ3 ENSG00000184156 KCNQ3 6297 562 602232 O43525 O43525 EBN2 Kv7.3 Potassium voltage-gated channel, KQT-like subfamily, member 3 hrdo:gen_id_16298 KCNQ4 ENSG00000117013 KCNQ4 6298 563 603537 P56696 P56696 DFNA2 Kv7.4 Potassium voltage-gated channel, KQT-like subfamily, member 4 hrdo:gen_id_16299 KERA ENSG00000139330 KERA 6309 603288 O60938 CNA2 SLRR2B Keratocan hrdo:gen_id_16300 KHK ENSG00000138030 KHK 6315 614058 P50053 P50053 Ketohexokinase (fructokinase) hrdo:gen_id_16301 KIAA0196 ENSG00000164961 KIAA0196 28984 610657 Q12768 SPG8 KIAA0196 hrdo:gen_id_16302 KIAA1279 ENSG00000198954 KIAA1279 23419 609367 Q96EK5 DKFZP586B0923 TTC20 KIAA1279 hrdo:gen_id_16303 KIAA2022 ENSG00000050030 KIAA2022 29433 300524 Q5QGS0 KIAA2022 hrdo:gen_id_16304 KIF1B ENSG00000054523 KIF1B 16636 605995 O60333 CMT2 CMT2A HMSNII KIAA0591 KLP Kinesin family member 1B hrdo:gen_id_16305 KIF21A ENSG00000139116 KIF21A 19349 608283 Q7Z4S6 FEOM1 FLJ20052 Kinesin family member 21A hrdo:gen_id_16306 KIF5A ENSG00000155980 KIF5A 6323 602821 Q12840 Q12840 D12S1889 MY050 NKHC SPG10 Kinesin family member 5A hrdo:gen_id_16307 KISS1R ENSG00000116014 KISS1R 4510 266 604161 Q969F8 Q969F8 AXOR12 GPR54 HOT7T175 KISS1 receptor hrdo:gen_id_16308 KIT ENSG00000157404 KIT 6342 164920 P10721 P10721 C-Kit CD117 PBT SCFR V-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog hrdo:gen_id_16309 KLF11 ENSG00000172059 KLF11 11811 603301 O14901 TIEG2 Tieg3 Kruppel-like factor 11 hrdo:gen_id_16310 KLKB1 ENSG00000164344 KLKB1 6371 229000 P03952 P03952 KLK3 Kallikrein B, plasma (Fletcher factor) 1 hrdo:gen_id_16311 KNG1 ENSG00000113889 KNG1 6383 612358 P01042 P01042 BDK KNG Kininogen 1 hrdo:gen_id_16312 KRAS ENSG00000133703 KRAS 6407 190070 P01116 P01116 KRAS1 KRAS2 V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog hrdo:gen_id_16313 KRIT1 ENSG00000001631 KRIT1 1573 604214 O00522 CAM CCM1 KRIT1, ankyrin repeat containing hrdo:gen_id_16314 KRT1 ENSG00000167768 KRT1 6412 139350 P04264 EHK1 KRT1A Keratin 1 hrdo:gen_id_16315 KRT10 ENSG00000186395 KRT10 6413 148080 P13645 CK10 K10 KPP cytokeratin 10 epidermolytic hyperkeratosis Keratin 10 hrdo:gen_id_16316 KRT12 ENSG00000187242 KRT12 6414 601687 Q99456 K12 Keratin 12 (Meesmann corneal dystrophy) hrdo:gen_id_16317 KRT14 ENSG00000186847 KRT14 6416 148066 P02533 P02533 EBS3 EBS4 Keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner) hrdo:gen_id_16318 KRT16 ENSG00000186832 KRT16 6423 148067 P08779 NEPPK Keratin 16 (focal non-epidermolytic palmoplantar keratoderma) hrdo:gen_id_16319 KRT17 ENSG00000128422 KRT17 6427 148069 Q04695 PCHC1 Keratin 17 hrdo:gen_id_16320 KRT2 ENSG00000172867 KRT2 6439 600194 P35908 KRT2A KRTE Keratin 2 (epidermal ichthyosis bullosa of Siemens) hrdo:gen_id_16321 KRT3 ENSG00000186442 KRT3 6440 148043 P12035 Keratin 3 hrdo:gen_id_16322 KRT5 ENSG00000186081 KRT5 6442 148040 P13647 P13647 EBS2 KRT5A Keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types) hrdo:gen_id_16323 KRT6A ENSG00000205420 KRT6A 6443 148041 P02538 CK6C CK6D K6C K6D KRT6C KRT6D Keratin 6A hrdo:gen_id_16324 KRT6B ENSG00000185479 KRT6B 6444 148042 P04259 KRTL1 Keratin 6B hrdo:gen_id_16325 KRT81 ENSG00000205426 KRT81 6458 602153 Q14533 Hb-1 KRTHB1 Keratin 81 hrdo:gen_id_16326 KRT83 ENSG00000170523 KRT83 6460 602765 P78385 Hb-3 KRTHB3 Keratin 83 hrdo:gen_id_16327 KRT85 ENSG00000135443 KRT85 6462 602767 P78386 Hb-5 KRTHB5 Keratin 85 hrdo:gen_id_16328 KRT86 ENSG00000258832 KRT86 6463 601928 O43790 Hb6 KRTHB6 MNX Keratin 86 hrdo:gen_id_16329 KRT9 ENSG00000171403 KRT9 6447 607606 P35527 EPPK Keratin 9 (epidermolytic palmoplantar keratoderma) hrdo:gen_id_16330 L1CAM ENSG00000198910 L1CAM 6470 308840 P32004 P32004 CD171 HSAS HSAS1 MASA MIC5 S10 SPG1 L1 cell adhesion molecule hrdo:gen_id_16331 L2HGDH ENSG00000087299 L2HGDH 20499 609584 Q9H9P8 Q9H9P8 C14orf160 FLJ12618 L-2-hydroxyglutarate dehydrogenase hrdo:gen_id_16332 LAMA2 ENSG00000196569 LAMA2 6482 156225 P24043 P24043 LAMM Laminin, alpha 2 (merosin, congenital muscular dystrophy) hrdo:gen_id_16333 LAMA3 ENSG00000053747 LAMA3 6483 600805 Q16787 Q16787 BM600-150kDa LAMNA epiligrin kalinin-165kDa nicein-150kDa Laminin, alpha 3 hrdo:gen_id_16334 LAMB2 ENSG00000172037 LAMB2 6487 150325 P55268 P55268 LAMS Laminin, beta 2 (laminin S) hrdo:gen_id_16335 LAMB3 ENSG00000196878 LAMB3 6490 150310 Q13751 Q13751 BM600-125kDa LAMNB1 kalinin-140kDa nicein-125kDa Laminin, beta 3 hrdo:gen_id_16336 LAMC2 ENSG00000058085 LAMC2 6493 150292 Q13753 Q13753 BM600-100kDa EBR2 EBR2A LAMB2T LAMNB2 kalinin-105kDa nicein-100kDa Laminin, gamma 2 hrdo:gen_id_16337 LAMP2 ENSG00000005893 LAMP2 6501 309060 P13473 P13473 CD107b Lysosomal-associated membrane protein 2 hrdo:gen_id_16338 LARGE ENSG00000133424 LARGE 6511 603590 O95461 KIAA0609 Like-glycosyltransferase hrdo:gen_id_16339 LAT2 ENSG00000086730 LAT2 12749 605719 Q9GZY6 HSPC046 LAB NTAL WBSCR15 WBSCR5 WSCR5 Linker for activation of T cells family, member 2 hrdo:gen_id_16340 LBR ENSG00000143815 LBR 6518 600024 Q14739 Q14739 DHCR14B Lamin B receptor hrdo:gen_id_16341 LCAT ENSG00000213398 LCAT 6522 606967 P04180 P04180 Lecithin-cholesterol acyltransferase hrdo:gen_id_16342 LCT ENSG00000115850 LCT 6530 603202 P09848 P09848 Lactase hrdo:gen_id_16343 LDB3 ENSG00000122367 LDB3 15710 605906 O75112 KIAA0613 PDLIM6 ZASP LIM domain binding 3 hrdo:gen_id_16344 LDHA ENSG00000134333 LDHA 6535 150000 P00338 P00338 Lactate dehydrogenase A hrdo:gen_id_16345 LDHB ENSG00000111716 LDHB 6541 150100 P07195 P07195 Lactate dehydrogenase B hrdo:gen_id_16347 LDLR ENSG00000130164 LDLR 6547 606945 P01130 P01130 Low density lipoprotein receptor (familial hypercholesterolemia) hrdo:gen_id_16348 LDLRAP1 ENSG00000157978 LDLRAP1 18640 605747 Q5SW96 Q5SW96 ARH ARH2 DKFZp586D0624 FHCB1 FHCB2 MGC34705 Low density lipoprotein receptor adaptor protein 1 hrdo:gen_id_16349 LEMD3 ENSG00000174106 LEMD3 28887 607844 Q9Y2U8 MAN1 LEM domain containing 3 hrdo:gen_id_16350 LEP ENSG00000174697 LEP 6553 164160 P41159 P41159 OB OBS Leptin (obesity homolog, mouse) hrdo:gen_id_16351 LEPR ENSG00000116678 LEPR 6554 601007 P48357 CD295 OBR Leptin receptor hrdo:gen_id_16352 LGI1 ENSG00000108231 LGI1 6572 604619 O95970 EPT IB1099 Leucine-rich, glioma inactivated 1 hrdo:gen_id_16353 LHB ENSG00000104826 LHB 6584 152780 P01229 P01229 Luteinizing hormone beta polypeptide hrdo:gen_id_16354 LHCGR ENSG00000138039 LHCGR 6585 254 152790 P22888 P22888 LCGR LGR2 LHR Luteinizing hormone/choriogonadotropin receptor hrdo:gen_id_16355 LHX3 ENSG00000107187 LHX3 6595 600577 Q9UBR4 LIM homeobox 3 hrdo:gen_id_16356 LIFR ENSG00000113594 LIFR 6597 151443 P42702 CD118 Leukemia inhibitory factor receptor alpha hrdo:gen_id_16357 LIG4 ENSG00000174405 LIG4 6601 601837 P49917 P49917 Ligase IV, DNA, ATP-dependent hrdo:gen_id_16358 LIMK1 ENSG00000106683 LIMK1 6613 601329 P53667 P53667 LIMK LIM domain kinase 1 hrdo:gen_id_16359 LIPA ENSG00000107798 LIPA 6617 613497 P38571 CESD LAL Lipase A, lysosomal acid, cholesterol esterase (Wolman disease) hrdo:gen_id_16360 LIPI ENSG00000188992 LIPI 18821 609252 Q6XZB0 PRED5 Lipase, member I hrdo:gen_id_16361 LITAF ENSG00000189067 LITAF 16841 603795 Q99732 FLJ38636 PIG7 SIMPLE TP53I7 Lipopolysaccharide-induced TNF factor hrdo:gen_id_16362 LMAN1 ENSG00000074695 LMAN1 6631 601567 P49257 P49257 ERGIC-53 ERGIC53 F5F8D FMFD1 MCFD1 MR60 gp58 Lectin, mannose-binding, 1 hrdo:gen_id_16363 LMBR1 ENSG00000105983 LMBR1 13243 605522 Q8WVP7 ACHP C7orf2 FLJ11665 Limb region 1 homolog (mouse) hrdo:gen_id_16364 LMNA ENSG00000160789 LMNA 6636 150330 P02545 P02545 CMD1A LGMD1B LMN1 Lamin A/C hrdo:gen_id_16365 LMNB1 ENSG00000113368 LMNB1 6637 150340 P20700 P20700 Lamin B1 hrdo:gen_id_16367 LMX1B ENSG00000136944 LMX1B 6654 602575 O60663 NPS1 LIM homeobox transcription factor 1, beta hrdo:gen_id_16368 LOR ENSG00000203782 LOR 6663 152445 P23490 Loricrin hrdo:gen_id_16370 LPIN2 ENSG00000101577 LPIN2 14450 605519 Q92539 Q92539 KIAA0249 Lipin 2 hrdo:gen_id_16371 LPL ENSG00000175445 LPL 6677 609708 P06858 P06858 LIPD Lipoprotein lipase hrdo:gen_id_16372 LRP5 ENSG00000162337 LRP5 6697 603506 O75197 BMND1 EVR1 HBM LR3 LRP7 OPPG OPS Low density lipoprotein receptor-related protein 5 hrdo:gen_id_16373 LRPPRC ENSG00000138095 LRPPRC 15714 607544 P42704 GP130 LRP130 LSFC Leucine-rich PPR-motif containing hrdo:gen_id_16374 LRRC8A ENSG00000136802 LRRC8A 19027 608360 Q8IWT6 FLJ10337 KIAA1437 LRRC8 Leucine rich repeat containing 8 family, member A hrdo:gen_id_16375 MANBA ENSG00000109323 MANBA 6831 609489 O00462 Mannosidase, beta A, lysosomal hrdo:gen_id_16376 MAOA ENSG00000189221 MAOA 6833 309850 P21397 P21397 Monoamine oxidase A hrdo:gen_id_16377 MAP2K1 ENSG00000169032 MAP2K1 6840 176872 Q02750 Q02750 MAPKK1 MEK1 PRKMK1 Mitogen-activated protein kinase kinase 1 hrdo:gen_id_16378 MAP2K2 ENSG00000126934 MAP2K2 6842 601263 P36507 P36507 MEK2 PRKMK2 Mitogen-activated protein kinase kinase 2 hrdo:gen_id_16379 MAPT ENSG00000186868 MAPT 6893 157140 P10636 P10636 DDPAC FTDP-17 MAPTL MSTD MTBT1 MTBT2 PPND tau Microtubule-associated protein tau hrdo:gen_id_16380 MASTL ENSG00000120539 MASTL 19042 608221 Q96GX5 FLJ14813 THC2 Microtubule associated serine/threonine kinase-like hrdo:gen_id_16381 MATN3 ENSG00000132031 MATN3 6909 602109 O15232 EDM5 Matrilin 3 hrdo:gen_id_16382 MC2R ENSG00000185231 MC2R 6930 283 607397 Q01718 Q01718 ACTHR Melanocortin 2 receptor (adrenocorticotropic hormone) hrdo:gen_id_16383 MCCC1 ENSG00000078070 MCCC1 6936 609010 Q96RQ3 Q96RQ3 MCCA Methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) hrdo:gen_id_16384 MCCC2 ENSG00000131844 MCCC2 6937 609014 Q9HCC0 Q9HCC0 MCCB Methylcrotonoyl-Coenzyme A carboxylase 2 (beta) hrdo:gen_id_16385 MCFD2 ENSG00000180398 MCFD2 18451 607788 Q8NI22 Q8NI22 F5F8D LMAN1IP SDNSF Multiple coagulation factor deficiency 2 hrdo:gen_id_16386 MCOLN1 ENSG00000090674 MCOLN1 13356 501 605248 Q9GZU1 ML4 MLIV MST080 MSTP080 TRPM-L1 TRPML1 Mucolipin 1 hrdo:gen_id_16387 MCPH1 ENSG00000147316 MCPH1 6954 607117 Q8NEM0 FLJ12847 Microcephaly, primary autosomal recessive 1 hrdo:gen_id_16388 MECP2 ENSG00000169057 MECP2 6990 300005 P51608 MRX16 MRX79 RTT Methyl CpG binding protein 2 (Rett syndrome) hrdo:gen_id_16389 MEFV ENSG00000103313 MEFV 6998 608107 O15553 O15553 FMF MEF TRIM20 Mediterranean fever hrdo:gen_id_16390 MEN1 ENSG00000133895 MEN1 7010 613733 O00255 Multiple endocrine neoplasia I hrdo:gen_id_16391 MERTK ENSG00000153208 MERTK 7027 604705 Q12866 Q12866 mer C-mer proto-oncogene tyrosine kinase hrdo:gen_id_16392 MET ENSG00000105976 MET 7029 164860 P08581 P08581 HGFR RCCP2 Met proto-oncogene (hepatocyte growth factor receptor) hrdo:gen_id_16393 MFAP4 ENSG00000166482 MFAP4 7035 600596 P55083 Microfibrillar-associated protein 4 hrdo:gen_id_16394 MFN2 ENSG00000116688 MFN2 16877 608507 O95140 O95140 CPRP1 KIAA0214 MARF Mitofusin 2 hrdo:gen_id_16395 MFRP ENSG00000259159 MFRP 18121 606227 Q9BY79 FLJ30570 rd6 Membrane frizzled-related protein hrdo:gen_id_16396 MGAT2 ENSG00000168282 MGAT2 7045 602616 Q10469 Q10469 GNT-II Mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase hrdo:gen_id_16397 MGP ENSG00000111341 MGP 7060 154870 P08493 Matrix Gla protein hrdo:gen_id_16398 MID1 ENSG00000101871 MID1 7095 300552 O15344 FXY OS RNF59 TRIM18 Midline 1 (Opitz/BBB syndrome) hrdo:gen_id_16399 MIF ENSG00000240972 MIF 7097 153620 P14174 GIF GLIF Macrophage migration inhibitory factor (glycosylation-inhibiting factor) hrdo:gen_id_16401 MIP ENSG00000135517 MIP 7103 154050 P30301 P30301 AQP0 LIM1 MP26 Major intrinsic protein of lens fiber hrdo:gen_id_16402 MITF ENSG00000187098 MITF 7105 156845 O75030 Microphthalmia-associated transcription factor hrdo:gen_id_16403 MKKS ENSG00000125863 MKKS 7108 604896 Q9NPJ1 BBS6 McKusick-Kaufman syndrome (Gen) hrdo:gen_id_16405 MKS1 ENSG00000011143 MKS1 7121 609883 Q9NXB0 FLJ20345 MKS Meckel syndrome, type 1 hrdo:gen_id_16406 MLC1 ENSG00000100427 MLC1 17082 605908 Q15049 KIAA0027 LVM MLC VL Megalencephalic leukoencephalopathy with subcortical cysts 1 hrdo:gen_id_16407 MLH1 ENSG00000076242 MLH1 7127 120436 P40692 P40692 COCA2 FCC2 HNPCC HNPCC2 MutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) hrdo:gen_id_16408 MLH3 ENSG00000119684 MLH3 7128 604395 Q9UHC1 Q9UHC1 MutL homolog 3 (E. coli) hrdo:gen_id_16409 MLL ENSG00000118058 MLL 7132 159555 Q03164 ALL-1 CXXC7 HRX HTRX1 MLL1A TRX1 Myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) hrdo:gen_id_16410 MLPH ENSG00000115648 MLPH 29643 606526 Q9BV36 Slac-2a exophilin-3 l(1)-3Rk l1Rk3 ln Melanophilin hrdo:gen_id_16411 MLXIPL ENSG00000009950 MLXIPL 12744 605678 Q9NP71 Q9NP71 WBSCR14 WS-bHLH MLX interacting protein-like hrdo:gen_id_16412 MLYCD ENSG00000103150 MLYCD 7150 606761 O95822 MCD hMCD Malonyl-CoA decarboxylase hrdo:gen_id_16413 MMAA ENSG00000151611 MMAA 18871 607481 Q8IVH4 Methylmalonic aciduria (cobalamin deficiency) cblA type hrdo:gen_id_16414 MMAB ENSG00000139428 MMAB 19331 607568 Q96EY8 Methylmalonic aciduria (cobalamin deficiency) cblB type hrdo:gen_id_16415 LRRK2 ENSG00000188906 LRRK2 18618 609007 Q5S007 DKFZp434H2111 FLJ45829 PARK8 RIPK7 ROCO2 Leucine-rich repeat kinase 2 hrdo:gen_id_16417 LTC4S ENSG00000213316 LTC4S 6719 246530 Q16873 Q16873 MGC33147 Leukotriene C4 synthase hrdo:gen_id_16419 LYST ENSG00000143669 LYST 1968 606897 Q99698 CHS CHS1 Lysosomal trafficking regulator hrdo:gen_id_16420 LYZ ENSG00000090382 LYZ 6740 153450 P61626 P61626 Lysozyme (renal amyloidosis) hrdo:gen_id_16421 MAGEL2 ENSG00000254585 MAGEL2 6814 605283 Q9UJ55 NDNL1 nM15 MAGE-like 2 hrdo:gen_id_16422 MAN2B1 ENSG00000104774 MAN2B1 6826 609458 O00754 LAMAN MANB Mannosidase, alpha, class 2B, member 1 hrdo:gen_id_16424 ACAD9 ENSG00000177646 ACAD9 21497 611103 Q9H845 Acyl-Coenzyme A dehydrogenase family, member 9 hrdo:gen_id_16425 ACAD8 ENSG00000151498 ACAD8 87 604773 Q9UKU7 Q9UKU7 acyl-Coenzyme A dehydrogenase family, member 8 hrdo:gen_id_16427 H19 ENSG00000130600 H19 4713 103280 ASM ASM1 D11S813E H19, imprinted maternally expressed untranslated mRNA hrdo:gen_id_16428 WNT10A ENSG00000135925 WNT10A 13829 606268 Q9GZT5 Q9GZT5 Wingless-type MMTV integration site family, member 10A hrdo:gen_id_16429 HOXA11� ENSG00000005073 HOXA11� 5101 142958 P31270 HOX1 HOX1I homeo box A11 homeobox A11 hrdo:gen_id_16430 MIPOL1 ENSG00000151338 MIPOL1 21460 606850 Q8TD10 mirror-image polydactyly 1 hrdo:gen_id_16432 COG8 ENSG00000213380 COG8 18623 606979 Q96MW5 Component of oligomeric golgi complex 8 hrdo:gen_id_16433 CRYBB1 ENSG00000100122 CRYBB1 2397 600929 P53674 Crystallin, beta B1 hrdo:gen_id_16434 NOTCH1 ENSG00000148400 NOTCH1 7881 190198 P46531 P46531 TAN1 Notch homolog 1, translocation-associated (Drosophila) hrdo:gen_id_16435 HOXA1 ENSG00000105991 HOXA1 5099 142955 P49639 HOX1 HOX1F homeo box A1 homeobox A1 hrdo:gen_id_16436 TAP1 ENSG00000168394 TAP1 43 170260 Q03518 Q03518 Transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) hrdo:gen_id_16437 TAPBP ENSG00000231925 TAPBP 11566 601962 O15533 O15533 TAP binding protein (tapasin) hrdo:gen_id_16438 RAB23 ENSG00000112210 RAB23 14263 606144 Q9ULC3 RAB23, member RAS oncogene family hrdo:gen_id_16439 DOLK ENSG00000175283 DOLK 23406 610746 Q9UPQ8 Q9UPQ8 DK1 KIAA1094 TMEM15 transmembrane protein 15 Dolichol kinase hrdo:gen_id_16440 CRLF1 ENSG00000006016 CRLF1 2364 604237 O75462 CISS CISS1 CLF CLF-1 cytokine receptor-like factor 1 hrdo:gen_id_16442 AASS ENSG00000008311 AASS 17366 605113 Q9UDR5 Q9UDR5 LKRSDH LORSDH Aminoadipate-semialdehyde synthase gene hrdo:gen_id_16443 APC ENSG00000134982 APC 583 611731 P25054 P25054 DP2 DP2.5 DP3 Adenomatosis polyposis coli gene hrdo:gen_id_16445 BLM ENSG00000197299 BLM 1058 604610 P54132 P54132 BS RECQ2 RECQL3 Bloom syndrome gene hrdo:gen_id_16446 HFE ENSG00000010704 HFE 4886 613609 Q30201 HLA-H Hemochromatosis gene hrdo:gen_id_16447 HFE2 ENSG00000168509 HFE2 4887 608374 Q6ZVN8 Q6ZVN8 HFE2A HJV JH RGMC hemojuvelin Hemochromatosis type 2 (juvenile) gene hrdo:gen_id_16448 POMC ENSG00000115138 POMC 9201 176830 P01189 P01189 ACTH CLIP MSH Proopiomelanocortin gene hrdo:gen_id_16449 SLC3A1 ENSG00000138079 SLC3A1 11025 104614 Q07837 Q07837 CSNU1 D2H RBAT Solute carrier family 3 (cystine and activator, dibasic and neutral amino acid transporters/transport), member 1 hrdo:gen_id_16450 SOST ENSG00000167941 SOST 13771 605740 Q9BQB4 Sclerosteosis gene hrdo:gen_id_16451 MMACHC ENSG00000132763 MMACHC 24525 609831 Q9Y4U1 DKFZP564I122 Methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria hrdo:gen_id_16452 MMP13 ENSG00000137745 MMP13 7159 600108 P45452 P45452 CLG3 Matrix metallopeptidase 13 (collagenase 3) hrdo:gen_id_16453 MMP2 ENSG00000087245 MMP2 7166 120360 P08253 P08253 CLG4 CLG4A TBE-1 Matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) hrdo:gen_id_16455 MOCOS ENSG00000075643 MOCOS 18234 NULL Q96EN8 Q96EN8 FLJ20733 HMCS MOS Molybdenum cofactor sulfurase hrdo:gen_id_16456 MOCS1 ENSG00000124615 MOCS1 7190 603707 Q9NZB8 Q9NZB8 MOCOD Molybdenum cofactor synthesis 1 hrdo:gen_id_16457 MOCS2 ENSG00000164172 MOCS2 7193 603708 O96033 O96033 MOCO1 Molybdenum cofactor synthesis 2 hrdo:gen_id_16458 MPDU1 ENSG00000129255 MPDU1 7207 604041 O75352 Lec35 PQLC5 SL15 Mannose-P-dolichol utilization defect 1 hrdo:gen_id_16459 MPI ENSG00000178802 MPI 7216 154550 P34949 P34949 Mannose phosphate isomerase hrdo:gen_id_16460 MPL ENSG00000117400 MPL 7217 159530 P40238 P40238 CD110 Myeloproliferative leukemia virus oncogene hrdo:gen_id_16461 MPO ENSG00000005381 MPO 7218 606989 P05164 Myeloperoxidase hrdo:gen_id_16462 MPV17 ENSG00000115204 MPV17 7224 137960 P39210 SYM1 MpV17 mitochondrial inner membrane protein hrdo:gen_id_16463 MPZ ENSG00000158887 MPZ 7225 159440 P25189 CMT1 CMT1B HMSNIB Myelin protein zero (Charcot-Marie-Tooth neuropathy 1B) hrdo:gen_id_16464 MRAP ENSG00000170262 MRAP 1304 609196 Q8TCY5 B27 C21orf61 FALP Melanocortin 2 receptor accessory protein hrdo:gen_id_16465 MRE11A ENSG00000020922 MRE11A 7230 600814 P49959 P49959 ATLD MRE11 MRE11 meiotic recombination 11 homolog A (S. cerevisiae) hrdo:gen_id_16466 MSH2 ENSG00000095002 MSH2 7325 609309 P43246 COCA1 HNPCC HNPCC1 MutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) hrdo:gen_id_16467 MSH6 ENSG00000116062 MSH6 7329 600678 P52701 GTBP MutS homolog 6 (E. coli) hrdo:gen_id_16468 MSX1 ENSG00000163132 MSX1 7391 142983 P28360 HOX7 HYD1 OFC5 Msh homeobox 1 hrdo:gen_id_16469 MSX2 ENSG00000120149 MSX2 7392 123101 P35548 CRS2 FPP HOX8 MSH PFM PFM1 Msh homeobox 2 hrdo:gen_id_16470 MT-ATP6 ENSG00000198899 MT-ATP6 7414 516060 P00846 P00846 ATP6 MTATP6 Mitochondrially encoded ATP synthase 6 hrdo:gen_id_16471 MT-CO1 ENSG00000198804 MT-CO1 7419 516030 P00395 P00395 COX1 MTCO1 Mitochondrially encoded cytochrome c oxidase I hrdo:gen_id_16472 MT-CO2 ENSG00000198712 MT-CO2 7421 516040 P00403 P00403 COX2 MTCO2 Mitochondrially encoded cytochrome c oxidase II hrdo:gen_id_16473 MT-CO3 ENSG00000198938 MT-CO3 7422 516050 P00414 P00414 COX3 MTCO3 Mitochondrially encoded cytochrome c oxidase III hrdo:gen_id_16474 MT-CYB ENSG00000198727 MT-CYB 7427 516020 P00156 P00156 COB CYTB MTCYB Mitochondrially encoded cytochrome b hrdo:gen_id_16475 MTHFR ENSG00000177000 MTHFR 7436 607093 P42898 P42898 5,10-methylenetetrahydrofolate reductase (NADPH) hrdo:gen_id_16476 MTM1 ENSG00000171100 MTM1 7448 300415 Q13496 Myotubularin 1 hrdo:gen_id_16477 MTMR2 ENSG00000087053 MTMR2 7450 603557 Q13614 CMT4B KIAA1073 Myotubularin related protein 2 hrdo:gen_id_16478 MT-ND1 ENSG00000198888 MT-ND1 7455 516000 P03886 P03886 MTND1 NAD1 ND1 Mitochondrially encoded NADH dehydrogenase 1 hrdo:gen_id_16479 MT-ND2 ENSG00000198763 MT-ND2 7456 516001 P03891 P03891 MTND2 NAD2 ND2 Mitochondrially encoded NADH dehydrogenase 2 hrdo:gen_id_16480 MT-ND3 ENSG00000198840 MT-ND3 7458 516002 P03897 P03897 MTND3 NAD3 ND3 Mitochondrially encoded NADH dehydrogenase 3 hrdo:gen_id_16481 MT-ND4 ENSG00000198886 MT-ND4 7459 516003 P03905 P03905 MTND4 NAD4 ND4 Mitochondrially encoded NADH dehydrogenase 4 hrdo:gen_id_16482 MT-ND4L ENSG00000212907 MT-ND4L 7460 516004 P03901 P03901 MTND4L NAD4L ND4L Mitochondrially encoded NADH dehydrogenase 4L hrdo:gen_id_16483 MT-ND5 ENSG00000198786 MT-ND5 7461 516005 P03915 P03915 MTND5 NAD5 ND5 Mitochondrially encoded NADH dehydrogenase 5 hrdo:gen_id_16484 MT-ND6 ENSG00000198695 MT-ND6 7462 516006 P03923 P03923 MTND6 NAD6 ND6 Mitochondrially encoded NADH dehydrogenase 6 hrdo:gen_id_16485 MTR ENSG00000116984 MTR 7468 156570 Q99707 Q99707 5-methyltetrahydrofolate-homocysteine methyltransferase hrdo:gen_id_16486 MTRR ENSG00000124275 MTRR 7473 602568 Q9UBK8 5-methyltetrahydrofolate-homocysteine methyltransferase reductase hrdo:gen_id_16487 MTTP ENSG00000138823 MTTP 7467 157147 P55157 P55157 ABL MTP Microsomal triglyceride transfer protein hrdo:gen_id_16488 MUC3A ENSG00000169894 MUC3A 7513 158371 Q02505 Q02505 MUC3 Mucin 3A, cell surface associated hrdo:gen_id_16489 MUT ENSG00000146085 MUT 7526 609058 P22033 P22033 Methylmalonyl Coenzyme A mutase hrdo:gen_id_16490 MUTYH ENSG00000132781 MUTYH 7527 604933 Q9UIF7 Q9UIF7 MYH MutY homolog (E. coli) hrdo:gen_id_16491 MVK ENSG00000110921 MVK 7530 251170 Q03426 Q03426 Mevalonate kinase (mevalonic aciduria) hrdo:gen_id_16492 MXI1 ENSG00000119950 MXI1 7534 600020 P50539 MAD2 MXD2 MXI MAX interactor 1 hrdo:gen_id_16493 MYBPC3 ENSG00000134571 MYBPC3 7551 600958 Q14896 Q14896 CMH4 FHC MYBP-C Myosin binding protein C, cardiac hrdo:gen_id_16494 MYCN ENSG00000134323 MYCN 7559 164840 P04198 NMYC V-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) hrdo:gen_id_16495 MYF6 ENSG00000111046 MYF6 7566 159991 P23409 P23409 MRF4 Myogenic factor 6 (herculin) hrdo:gen_id_16496 MYH11 ENSG00000133392 MYH11 7569 160745 P35749 P35749 SMHC SMMHC Myosin, heavy chain 11, smooth muscle hrdo:gen_id_16497 MYH14 ENSG00000105357 MYH14 23212 608568 Q7Z406 Q7Z406 DFNA4 FLJ13881 KIAA2034 Myosin, heavy chain 14 hrdo:gen_id_16498 MYH2 ENSG00000125414 MYH2 7572 160740 Q9UKX2 MYH2A MYHSA2 MYHas8 MyHC-2A MyHC-IIa Myosin, heavy chain 2, skeletal muscle, adult hrdo:gen_id_16499 MYH3 ENSG00000109063 MYH3 7573 160720 P11055 P11055 Myosin, heavy chain 3, skeletal muscle, embryonic hrdo:gen_id_16500 MYH6 ENSG00000197616 MYH6 7576 160710 P13533 P13533 Myosin, heavy chain 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1) hrdo:gen_id_16501 MYH7 ENSG00000092054 MYH7 7577 160760 P12883 CMD1S CMH1 MPD1 Myosin, heavy chain 7, cardiac muscle, beta hrdo:gen_id_16502 MYH8 ENSG00000133020 MYH8 7578 160741 P13535 P13535 Myosin, heavy chain 8, skeletal muscle, perinatal hrdo:gen_id_16503 MYH9 ENSG00000100345 MYH9 7579 160775 P35579 P35579 DFNA17 Myosin, heavy chain 9, non-muscle hrdo:gen_id_16504 MYL2 ENSG00000111245 MYL2 7583 160781 P10916 P10916 CMH10 Myosin, light chain 2, regulatory, cardiac, slow hrdo:gen_id_16505 MYL3 ENSG00000160808 MYL3 7584 160790 P08590 P08590 CMH8 'Myosin, light chain 3, alkali; ventricular, skeletal, slow' hrdo:gen_id_16506 MYLK2 ENSG00000101306 MYLK2 16243 606566 Q9H1R3 KMLC MLCK Myosin light chain kinase 2, skeletal muscle hrdo:gen_id_16507 MYO15A ENSG00000091536 MYO15A 7594 602666 Q9UKN7 DFNB3 MYO15 Myosin XVA hrdo:gen_id_16508 MYO5A ENSG00000197535 MYO5A 7602 160777 Q9Y4I1 Q9Y4I1 MYH12 Myosin VA (heavy chain 12, myoxin) hrdo:gen_id_16509 MYO6 ENSG00000196586 MYO6 7605 600970 Q9UM54 Q9UM54 DFNA22 DFNB37 KIAA0389 Myosin VI hrdo:gen_id_16510 MYO7A ENSG00000137474 MYO7A 7606 276903 Q13402 DFNA11 DFNB2 NSRD2 USH1B Myosin VIIA hrdo:gen_id_16511 MYOC ENSG00000034971 MYOC 7610 601652 Q99972 GLC1A JOAG1 TIGR Myocilin, trabecular meshwork inducible glucocorticoid response hrdo:gen_id_16512 MYOT ENSG00000120729 MYOT 12399 604103 Q9UBF9 LGMD1 LGMD1A TTID Myotilin hrdo:gen_id_16513 NAGA ENSG00000198951 NAGA 7631 104170 P17050 D22S674 N-acetylgalactosaminidase, alpha- hrdo:gen_id_16514 NAGLU ENSG00000108784 NAGLU 7632 609701 P54802 NAG N-acetylglucosaminidase, alpha- (Sanfilippo disease IIIB) hrdo:gen_id_16515 NAGS ENSG00000161653 NAGS 17996 608300 Q8N159 Q8N159 AGAS ARGA NAT7 N-acetylglutamate synthase hrdo:gen_id_16516 NAIP ENSG00000249437 NAIP 7634 600355 Q13075 BIRC1 NLRB1 NLR family, apoptosis inhibitory protein hrdo:gen_id_16518 NBN ENSG00000104320 NBN 7652 602667 O60934 O60934 AT-V1 AT-V2 ATV NBS NBS1 Nibrin hrdo:gen_id_16519 NCF1 ENSG00000158517 NCF1 7660 608512 P14598 P14598 NCF1A NOXO2 SH3PXD1A p47phox Neutrophil cytosolic factor 1, (chronic granulomatous disease, autosomal 1) hrdo:gen_id_16520 NCF2 ENSG00000116701 NCF2 7661 608515 P19878 P19878 NOXA2 p67phox Neutrophil cytosolic factor 2 (65kDa, chronic granulomatous disease, autosomal 2) hrdo:gen_id_16522 NDN ENSG00000182636 NDN 7675 602117 Q99608 HsT16328 Necdin homolog (mouse) hrdo:gen_id_16523 NDP ENSG00000124479 NDP 7678 300658 Q00604 EVR2 Norrie disease (pseudoglioma) hrdo:gen_id_16524 NDRG1 ENSG00000104419 NDRG1 7679 605262 Q92597 CAP43 DRG1 NDR1 RTP TDD5 N-myc downstream regulated gene 1 hrdo:gen_id_16525 NDUFAF2 ENSG00000164182 NDUFAF2 28086 609653 Q8N183 B17.2L MMTN NDUFA12L NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2 hrdo:gen_id_16526 NDUFS1 ENSG00000023228 NDUFS1 7707 157655 P28331 P28331 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) hrdo:gen_id_16527 NDUFS2 ENSG00000158864 NDUFS2 7708 602985 O75306 O75306 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) hrdo:gen_id_16528 NDUFS3 ENSG00000213619 NDUFS3 7710 603846 O75489 O75489 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) hrdo:gen_id_16529 NDUFS4 ENSG00000164258 NDUFS4 7711 602694 O43181 O43181 AQDQ NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) hrdo:gen_id_16530 NDUFS6 ENSG00000145494 NDUFS6 7713 603848 O75380 O75380 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase) hrdo:gen_id_16531 NDUFS7 ENSG00000115286 NDUFS7 7714 601825 O75251 O75251 FLJ45860 FLJ46880 PSST NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) hrdo:gen_id_16532 NDUFS8 ENSG00000110717 NDUFS8 7715 602141 O00217 O00217 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) hrdo:gen_id_16533 NDUFV1 ENSG00000167792 NDUFV1 7716 161015 P49821 P49821 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa hrdo:gen_id_16534 NDUFV2 ENSG00000178127 NDUFV2 7717 600532 P19404 P19404 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa hrdo:gen_id_16535 NEB ENSG00000183091 NEB 7720 161650 P20929 P20929 NEM2 Nebulin hrdo:gen_id_16536 NEFH ENSG00000100285 NEFH 7737 162230 P12036 Neurofilament, heavy polypeptide 200kDa hrdo:gen_id_16537 NEFL ENSG00000104725 NEFL 7739 162280 P07196 P07196 NFL Neurofilament, light polypeptide 68kDa hrdo:gen_id_16538 NSMF ENSG00000165802 NELF 29843 608137 Q6X4W1 NELF Nasal embryonic LHRH factor NMDA receptor synaptonuclear signaling and neuronal migration factor hrdo:gen_id_16539 NEU1 ENSG00000204386 NEU1 7758 608272 Q99519 Q99519 NEU Sialidase 1 (lysosomal sialidase) hrdo:gen_id_16540 NEUROD1 ENSG00000162992 NEUROD1 7762 601724 Q13562 Q13562 BETA2 BHF-1 NEUROD Neurogenic differentiation 1 hrdo:gen_id_16541 NEUROG3 ENSG00000122859 NEUROG3 13806 604882 Q9Y4Z2 Q9Y4Z2 Atoh5 Math4B ngn3 Neurogenin 3 hrdo:gen_id_16542 NF1 ENSG00000196712 NF1 7765 613113 P21359 Neurofibromin 1 hrdo:gen_id_16543 NF2 ENSG00000186575 NF2 7773 607379 P35240 Merlin Neurofibromin 2 (bilateral acoustic neuroma) hrdo:gen_id_16544 NGF ENSG00000134259 NGF 7808 162030 P01138 P01138 NGFB Nerve growth factor, beta polypeptide hrdo:gen_id_16545 NHLRC1 ENSG00000187566 NHLRC1 21576 608072 Q6VVB1 EPM2B bA204B7.2 NHL repeat containing 1 hrdo:gen_id_16546 NHS ENSG00000188158 NHS 7820 300457 Q6T4R5 Nance-Horan syndrome (congenital cataracts and dental anomalies) hrdo:gen_id_16547 NIPA1 ENSG00000170113 NIPA1 17043 608145 Q7RTP0 MGC35570 SPG6 Non imprinted in Prader-Willi/Angelman syndrome 1 hrdo:gen_id_16548 NIPBL ENSG00000164190 NIPBL 28862 608667 Q6KC79 DKFZp434L1319 FLJ11203 FLJ12597 FLJ13354 FLJ13648 IDN3 Nipped-B homolog (Drosophila) hrdo:gen_id_16549 NKX2-5 ENSG00000183072 NKX2-5 2488 600584 P52952 CSX CSX1 NKX2.5 NKX2E NK2 transcription factor related, locus 5 (Drosophila) hrdo:gen_id_16550 NLGN3 ENSG00000196338 NLGN3 14289 300336 Q9NZ94 HNL3 KIAA1480 Neuroligin 3 hrdo:gen_id_16551 NLGN4X ENSG00000146938 NLGN4X 14287 300427 Q8N0W4 HLNX KIAA1260 NLGN NLGN4 Neuroligin 4, X-linked hrdo:gen_id_16553 NLRP3 ENSG00000162711 NLRP3 16400 606416 Q96P20 Q96P20 AGTAVPRL AII AVP C1orf7 CIAS1 CLR1.1 Cryopyrin FCAS FCU MWS NALP3 PYPAF1 NLR family, pyrin domain containing 3 hrdo:gen_id_16554 NLRP7 ENSG00000167634 NLRP7 22947 609661 Q8WX94 CLR19.4 NALP7 NOD12 PAN7 PYPAF3 NLR family, pyrin domain containing 7 hrdo:gen_id_16556 NOD2 ENSG00000167207 NOD2 5331 605956 Q9HC29 Q9HC29 BLAU CARD15 CD CLR16.3 IBD1 NLRC2 PSORAS1 Nucleotide-binding oligomerization domain containing 2 hrdo:gen_id_16557 NOG ENSG00000183691 NOG 7866 602991 Q13253 Q13253 SYM1 SYNS1 Noggin hrdo:gen_id_16558 NOTCH2 ENSG00000134250 NOTCH2 7882 600275 Q04721 Q04721 Notch homolog 2 (Drosophila) Notch 2 hrdo:gen_id_16559 NOTCH3 ENSG00000074181 NOTCH3 7883 600276 Q9UM47 Q9UM47 CADASIL CASIL Notch homolog 3 (Drosophila) hrdo:gen_id_16560 PNP ENSG00000198805 NP 7892 164050 P00491 P00491 NP PUNP Purine nucleoside phosphorylase hrdo:gen_id_16561 NPC1 ENSG00000141458 NPC1 7897 607623 O15118 Niemann-Pick disease, type C1 hrdo:gen_id_16562 NPC2 ENSG00000119655 NPC2 14537 601015 P61916 HE1 NP-C2 Niemann-Pick disease, type C2 hrdo:gen_id_16563 NPHP1 ENSG00000144061 NPHP1 7905 607100 O15259 JBTS4 NPH1 Nephronophthisis 1 (juvenile) hrdo:gen_id_16564 NPHP3 ENSG00000113971 NPHP3 7907 608002 Q7Z494 FLJ30691 FLJ36696 KIAA2000 NPH3 Nephronophthisis 3 (adolescent) hrdo:gen_id_16565 NPHP4 ENSG00000131697 NPHP4 19104 607215 O75161 O75161 KIAA0673 SLSN4 nephroretinin Nephronophthisis 4 hrdo:gen_id_16566 NPHS1 ENSG00000161270 NPHS1 7908 602716 O60500 O60500 CNF NPHN Nephrosis 1, congenital, Finnish type (nephrin) hrdo:gen_id_16567 NPHS2 ENSG00000116218 NPHS2 13394 604766 Q9NP85 Q9NP85 PDCN SRN1 Nephrosis 2, idiopathic, steroid-resistant (podocin) hrdo:gen_id_16568 NPR2 ENSG00000159899 NPR2 7944 108961 P20594 ANPRB GUCY2B NPRB Natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) hrdo:gen_id_16569 NR0B1 ENSG00000169297 NR0B1 7960 635 300473 P51843 P51843 AHC AHCH DAX1 DSS Nuclear receptor subfamily 0, group B, member 1 hrdo:gen_id_16570 NR1H3 ENSG00000025434 NR1H3 7966 602 602423 Q13133 Q13133 LXR-a RLD-1 Nuclear receptor subfamily 1, group H, member 3 hrdo:gen_id_16571 NR2E3 ENSG00000031544 NR2E3 7974 616 604485 Q9Y5X4 Q9Y5X4 PNR rd7 Nuclear receptor subfamily 2, group E, member 3 hrdo:gen_id_16572 NR3C1 ENSG00000113580 NR3C1 7978 625 138040 P04150 P04150 GR GRL Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) hrdo:gen_id_16573 NR3C2 ENSG00000151623 NR3C2 7979 626 600983 P08235 P08235 MLR MR Nuclear receptor subfamily 3, group C, member 2 hrdo:gen_id_16575 NRL ENSG00000129535 NRL 8002 162080 P54845 D14S46E RP27 Neural retina leucine zipper hrdo:gen_id_16576 NRTN ENSG00000171119 NRTN 8007 602018 Q99748 Q99748 NTN Neurturin hrdo:gen_id_16577 NSD1 ENSG00000165671 NSD1 14234 606681 Q96L73 ARA267 FLJ22263 STO Nuclear receptor binding SET domain protein 1 hrdo:gen_id_16578 NSDHL ENSG00000147383 NSDHL 13398 300275 Q15738 Q15738 H105e3 XAP104 NAD(P) dependent steroid dehydrogenase-like hrdo:gen_id_16580 NT5C3 ENSG00000122643 NT5C3 17820 606224 Q9H0P0 Q9H0P0 P5'N-1 PN-I PSN1 UMPH UMPH1 cN-III 5'-nucleotidase, cytosolic III hrdo:gen_id_16581 NTRK1 ENSG00000198400 NTRK1 8031 191315 P04629 P04629 MTC TRK TRKA Neurotrophic tyrosine kinase, receptor, type 1 hrdo:gen_id_16582 NYX ENSG00000188937 NYX 8082 300278 Q9GZU5 CLRP CSNB1 CSNB4 Nyctalopin hrdo:gen_id_16583 OAT ENSG00000065154 OAT 8091 613349 P04181 P04181 HOGA Ornithine aminotransferase (gyrate atrophy) hrdo:gen_id_16584 OCA2 ENSG00000104044 OCA2 8101 611409 Q04671 D15S12 P Oculocutaneous albinism II (pink-eye dilution homolog, mouse) hrdo:gen_id_16585 OCRL ENSG00000122126 OCRL 8108 300535 Q01968 Q01968 INPP5F OCRL1 Oculocerebrorenal syndrome of Lowe hrdo:gen_id_16586 OFD1 ENSG00000046651 OFD1 2567 300170 O75665 O75665 71-7A CXorf5 Oral-facial-digital syndrome 1 hrdo:gen_id_16587 OGDH ENSG00000105953 OGDH 8124 613022 Q02218 Q02218 E1k Oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) hrdo:gen_id_16590 OPA1 ENSG00000198836 OPA1 8140 605290 O60313 FLJ12460 KIAA0567 NPG NTG largeG Optic atrophy 1 (autosomal dominant) hrdo:gen_id_16591 OPA3 ENSG00000125741 OPA3 8142 606580 Q9H6K4 FLJ22187 MGA3 Optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) hrdo:gen_id_16592 OPN1LW ENSG00000102076 OPN1LW 9936 300822 P04000 P04000 CBBM CBP RCP Opsin 1 (cone pigments), long-wave-sensitive (color blindness, protan) hrdo:gen_id_16593 OPN1MW ENSG00000147380 OPN1MW 4206 300821 P04001 P04001 CBBM CBD GCP OPN1MW1 Opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan) hrdo:gen_id_16594 OPN1SW ENSG00000128617 OPN1SW 1012 613522 P03999 P03999 BCP Opsin 1 (cone pigments), short-wave-sensitive (color blindness, tritan) hrdo:gen_id_16595 OPTN ENSG00000123240 OPTN 17142 602432 Q96CV9 FIP2 GLC1E HIP7 HYPL NRP TFIIIA-INTP Optineurin hrdo:gen_id_16596 OSTM1 ENSG00000081087 OSTM1 21652 607649 Q86WC4 GL HSPC019 Osteopetrosis associated transmembrane protein 1 hrdo:gen_id_16597 OTC ENSG00000036473 OTC 8512 300461 P00480 P00480 Ornithine carbamoyltransferase hrdo:gen_id_16598 OTOF ENSG00000115155 OTOF 8515 603681 Q9HC10 DFNB6 DFNB9 FER1L2 Otoferlin hrdo:gen_id_16599 OTX2 ENSG00000165588 OTX2 8522 600037 P32243 Orthodenticle homeobox 2 hrdo:gen_id_16600 OXCT1 ENSG00000083720 OXCT1 8527 601424 P55809 P55809 OXCT SCOT 3-oxoacid CoA transferase 1 hrdo:gen_id_16601 P2RY12 ENSG00000169313 P2RY12 18124 328 600515 Q9H244 Q9H244 HORK3 P2Y12 SP1999 Purinergic receptor P2Y, G-protein coupled, 12 hrdo:gen_id_16602 PABPN1 ENSG00000100836 PABPN1 8565 602279 Q86U42 Q86U42 OPMD PAB2 PABP2 Poly(A) binding protein, nuclear 1 hrdo:gen_id_16603 PACRG ENSG00000112530 PACRG 19152 608427 Q96M98 FLJ32724 Glup HAK005771 PARK2CRG PARK2 co-regulated hrdo:gen_id_16604 PAFAH1B1 ENSG00000007168 PAFAH1B1 8574 601545 P43034 P43034 LIS1 MDCR MDS PAFAH Platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa hrdo:gen_id_16605 PAH ENSG00000171759 PAH 8582 612349 P00439 P00439 Phenylalanine hydroxylase hrdo:gen_id_16606 PANK2 ENSG00000125779 PANK2 15894 606157 Q9BZ23 Q9BZ23 C20orf48 FLJ11729 HSS NBIA1 PKAN Pantothenate kinase 2 (Hallervorden-Spatz syndrome) hrdo:gen_id_16607 PAPSS2 ENSG00000198682 PAPSS2 8604 603005 O95340 O95340 ATPSK2 3'-phosphoadenosine 5'-phosphosulfate synthase 2 hrdo:gen_id_16608 PARK2 ENSG00000185345 PARK2 8607 602544 O60260 O60260 AR-JP E3 ubiquitin ligase PDJ PRKN Parkinson disease (autosomal recessive, juvenile) 2, parkin hrdo:gen_id_16609 PARK7 ENSG00000116288 PARK7 16369 602533 Q99497 DJ-1 DJ1 Parkinson disease (autosomal recessive, early onset) 7 hrdo:gen_id_16610 PAX2 ENSG00000075891 PAX2 8616 167409 Q02962 Paired box 2 hrdo:gen_id_16611 PAX3 ENSG00000135903 PAX3 8617 606597 P23760 HUP2 WS1 Paired box 3 hrdo:gen_id_16612 PAX6 ENSG00000007372 PAX6 8620 607108 P26367 P26367 AN AN2 D11S812E WAGR Paired box 6 hrdo:gen_id_16613 PAX7 ENSG00000009709 PAX7 8621 167410 P23759 Hup1 Paired box 7 hrdo:gen_id_16614 PAX8 ENSG00000125618 PAX8 8622 167415 Q06710 Paired box 8 hrdo:gen_id_16615 PAX9 ENSG00000198807 PAX9 8623 167416 P55771 Paired box 9 hrdo:gen_id_16616 PC ENSG00000173599 PC 8636 608786 P11498 P11498 PCB Pyruvate carboxylase hrdo:gen_id_16617 PCBD1 ENSG00000166228 PCBD1 8646 126090 P61457 P61457 DCOH PCBD PCD Pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) hrdo:gen_id_16618 PCCA ENSG00000175198 PCCA 8653 232000 P05165 P05165 Propionyl Coenzyme A carboxylase, alpha polypeptide hrdo:gen_id_16619 PCCB ENSG00000114054 PCCB 8654 232050 P05166 P05166 Propionyl Coenzyme A carboxylase, beta polypeptide hrdo:gen_id_16620 PCDH15 ENSG00000150275 PCDH15 14674 605514 Q96QU1 DFNB23 USH1F Protocadherin 15 hrdo:gen_id_16621 PCK1 ENSG00000124253 PCK1 8724 614168 P35558 P35558 Phosphoenolpyruvate carboxykinase 1 (soluble) hrdo:gen_id_16622 PCK2 ENSG00000100889 PCK2 8725 614095 Q16822 Q16822 PEPCK PEPCK2 Phosphoenolpyruvate carboxykinase 2 (mitochondrial) hrdo:gen_id_16623 PCM1 ENSG00000078674 PCM1 8727 600299 Q15154 Q15154 Pericentriolar material 1 hrdo:gen_id_16624 PCSK1 ENSG00000175426 PCSK1 8743 162150 P29120 P29120 NEC1 PC1 PC3 SPC3 Proprotein convertase subtilisin/kexin type 1 hrdo:gen_id_16625 PCSK9 ENSG00000169174 PCSK9 20001 607786 Q8NBP7 FH3 HCHOLA3 NARC-1 Proprotein convertase subtilisin/kexin type 9 hrdo:gen_id_16626 PDCD10 ENSG00000114209 PDCD10 8761 609118 Q9BUL8 CCM3 TFAR15 Programmed cell death 10 hrdo:gen_id_16627 PDE6A ENSG00000132915 PDE6A 8785 180071 P16499 P16499 PDEA Phosphodiesterase 6A, cGMP-specific, rod, alpha hrdo:gen_id_16628 PDE6B ENSG00000133256 PDE6B 8786 180072 P35913 P35913 CSNB3 PDEB rd1 Phosphodiesterase 6B, cGMP-specific, rod, beta (congenital stationary night blindness 3, autosomal dominant) hrdo:gen_id_16629 PDGFRA ENSG00000134853 PDGFRA 8803 173490 P16234 P16234 CD140a PDGFR2 Platelet-derived growth factor receptor, alpha polypeptide hrdo:gen_id_16631 PDHA1 ENSG00000131828 PDHA1 8806 300502 P08559 P08559 PDHA Pyruvate dehydrogenase (lipoamide) alpha 1 hrdo:gen_id_16632 PDHB ENSG00000168291 PDHB 8808 179060 P11177 P11177 Pyruvate dehydrogenase (lipoamide) beta hrdo:gen_id_16633 PDHX ENSG00000110435 PDHX 21350 608769 O00330 O00330 DLDBP E3BP OPDX PDX1 proX Pyruvate dehydrogenase complex, component X hrdo:gen_id_16634 PDX1 ENSG00000139515 PDX1 6107 600733 P52945 P52945 IDX-1 IPF1 MODY4 PDX-1 STF-1 Pancreatic and duodenal homeobox 1 hrdo:gen_id_16636 PEPD ENSG00000124299 PEPD 8840 613230 P12955 Peptidase D hrdo:gen_id_16637 PEX1 ENSG00000127980 PEX1 8850 602136 O43933 Peroxisome biogenesis factor 1 hrdo:gen_id_16638 PEX10 ENSG00000157911 PEX10 8851 602859 O60683 RNF69 Peroxisome biogenesis factor 10 hrdo:gen_id_16639 PEX12 ENSG00000108733 PEX12 8854 601758 O00623 Peroxisomal biogenesis factor 12 hrdo:gen_id_16640 PEX13 ENSG00000162928 PEX13 8855 601789 Q92968 Peroxisome biogenesis factor 13 hrdo:gen_id_16641 PEX14 ENSG00000142655 PEX14 8856 601791 O75381 Peroxisomal biogenesis factor 14 hrdo:gen_id_16642 PEX16 ENSG00000121680 PEX16 8857 603360 Q9Y5Y5 Peroxisomal biogenesis factor 16 hrdo:gen_id_16643 PEX19 ENSG00000162735 PEX19 9713 600279 P40855 P40855 HK33 PXF Peroxisomal biogenesis factor 19 hrdo:gen_id_16644 PEX26 ENSG00000215193 PEX26 22965 608666 Q7Z412 FLJ20695 Peroxisome biogenesis factor 26 hrdo:gen_id_16645 PEX3 ENSG00000034693 PEX3 8858 603164 P56589 P56589 Peroxisomal biogenesis factor 3 hrdo:gen_id_16646 PEX5 ENSG00000139197 PEX5 9719 600414 P50542 PTS1R PXR1 Peroxisomal biogenesis factor 5 hrdo:gen_id_16647 PEX6 ENSG00000124587 PEX6 8859 601498 Q13608 PAF-2 PXAAA1 Peroxisomal biogenesis factor 6 hrdo:gen_id_16648 PEX7 ENSG00000112357 PEX7 8860 601757 O00628 PTS2R RD Peroxisomal biogenesis factor 7 hrdo:gen_id_16649 PFKM ENSG00000152556 PFKM 8877 610681 P08237 P08237 PFK-1 PFKX Phosphofructokinase, muscle hrdo:gen_id_16650 PGK1 ENSG00000102144 PGK1 8896 311800 P00558 P00558 Phosphoglycerate kinase 1 hrdo:gen_id_16651 PGM1 ENSG00000079739 PGM1 8905 171900 P36871 P36871 Phosphoglucomutase 1 hrdo:gen_id_16654 PHEX ENSG00000102174 PHEX 8918 300550 P78562 HPDR HPDR1 HYP HYP1 PEX XLH Phosphate regulating endopeptidase homolog, X-linked (hypophosphatemia, vitamin D resistant rickets) hrdo:gen_id_16664 FGFR2 ENSG00000066468 FGFR2 3689 176943 P21802 P21802 BEK CD332 CEK3 CFD1 ECT1 JWS K-SAM KGFR TK14 TK25 Fibroblast growth factor receptor 2 hrdo:gen_id_16665 ERCC3 ENSG00000163161 ERCC3 3435 133510 P19447 P19447 BTF2 GTF2H RAD25 TFIIH XPB Excision repair cross-complementing rodent repair deficiency, complementation group 3 hrdo:gen_id_16666 ERCC5 ENSG00000134899 ERCC5 3437 133530 P28715 P28715 ERCM2 XPGC Excision repair cross-complementing rodent repair deficiency, complementation group 5 hrdo:gen_id_16667 AR ENSG00000169083 AR 644 628 313700 P10275 P10275 AIS DHTR HUMARA NR3C4 SBMA SMAX1 Androgen receptor hrdo:gen_id_16669 WWS WWS 12800 Wieacker-Wolff syndrome gene hrdo:gen_id_16671 SMN1 ENSG00000172062 SMN1 11117 600354 Q16637 Q16637 BCD541 SMA SMA1 SMA2 SMA3 SMA@ SMNT Survival of motor neuron 1, telomeric hrdo:gen_id_16699 BBS12 ENSG00000181004 BBS12 26648 610683 Q6ZW61 C4orf24 FLJ35630 FLJ41559 Bardet-Biedl syndrome 12 hrdo:gen_id_16752 TBXAS1 ENSG00000059377 TBXAS1 11609 274180 P24557 P24557 CYP5 CYP5A1 THAS TS TXAS TXS Thromboxane A synthase 1 (platelet, cytochrome P450, family 5, subfamily A) hrdo:gen_id_16758 AP1S2 ENSG00000182287 AP1S2 560 300629 P56377 P56377 MRX59 SIGMA1B adaptor-related protein complex 1, sigma 2 subunit hrdo:gen_id_16781 HADHA ENSG00000084754 HADHA 4801 600890 P40939 P40939 hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase, alpha subunit hrdo:gen_id_16782 TXNDC3 ENSG00000086288 TXNDC3 16473 607421 Q8N427 Thioredoxin domain containing 3 (spermatozoa) hrdo:gen_id_16783 NLRP12 ENSG00000142405 NLRP12 22938 609648 P59046 NLR family, pyrin domain containing 12 hrdo:gen_id_16784 FLT3 ENSG00000122025 FLT3 3765 136351 P36888 CD135 FLK2 STK1 Fms-related tyrosine kinase 3 hrdo:gen_id_16785 PDGFRB ENSG00000113721 PDGFRB 8804 173410 P09619 P09619 CD140b JTK12 PDGFR1 Platelet-derived growth factor receptor, beta polypeptide hrdo:gen_id_16786 LHX4 ENSG00000121454 LHX4 21734 602146 Q969G2 Gsh4 LIM homeobox 4 hrdo:gen_id_16787 SOX3 ENSG00000134595 SOX3 11199 313430 P41225 PHP Panhypopituitarism SRY (sex determining region Y)-box 3 hrdo:gen_id_16788 FANCI ENSG00000140525 FANCI 25568 611360 Q9NVI1 Q9NVI1 FLJ10719 KIAA1794 Fanconi anemia, complementation group I hrdo:gen_id_16789 TERT ENSG00000164362 TERT 11730 187270 O14746 O14746 EST2 TCS1 TP2 TRT hEST2 Telomerase reverse transcriptase hrdo:gen_id_16790 TERC ENSG00000200182 TERC 11727 602322 SCARNA19 TR TRC3 hTR Telomerase RNA component hrdo:gen_id_16791 IL6 ENSG00000136244 IL6 6018 147620 P05231 P05231 BSF2 HGF HSF IFBN2 Interleukin 6 (interferon, beta 2) hrdo:gen_id_16792 NUP62 ENSG00000213024 NUP62 8066 605815 P37198 P37198 nucleoporin 62kD p62 Nucleoporin 62 KDa hrdo:gen_id_16793 SIX5 ENSG00000177045 SIX5 10891 600963 Q8N196 DMAHP SIX homeobox 5 hrdo:gen_id_16794 PNPLA2 ENSG00000177666 PNPLA2 30802 609059 Q96AD5 ATGL FP17548 TTS-2.2 desnutrin Patatin-like phospholipase domain containing 2 hrdo:gen_id_16795 SMC3 ENSG00000108055 SMC3 2468 606062 Q9UQE7 Q9UQE7 BAM Bamacan CSPG6 HCAP SMC3L1 Structural maintenance of chromosomes 3 hrdo:gen_id_16796 MED12 ENSG00000184634 MED12 11957 300188 Q93074 Q93074 TNRC11 Mediator complex subunit 12 hrdo:gen_id_16799 CD96 ENSG00000153283 CD96 16892 606037 P40200 P40200 CD96 antigen TACTILE CD96 molecule hrdo:gen_id_16800 GJA5 ENSG00000143140 GJA5 4279 121013 P36382 P36382 CX40 Gap junction protein, alpha 5, 40kDa hrdo:gen_id_16801 FAM20C ENSG00000177706 FAM20C 22140 611061 Q8IXL6 DKFZp547D065 DMP4 IMAGE:4942737 Family with sequence similarity 20, member C hrdo:gen_id_16802 SATB2 ENSG00000119042 SATB2 21637 608148 Q9UPW6 SATB homeobox 2 hrdo:gen_id_16803 GLI2 ENSG00000074047 GLI2 4318 165230 P10070 GLI-Kruppel family member GLI2 hrdo:gen_id_16804 TDGF1 ENSG00000241186 TDGF1 11701 187395 P13385 P13385 CR CRIPTO Cripto-1 Teratocarcinoma-derived growth factor 1 hrdo:gen_id_16805 STAT3 ENSG00000168610 STAT3 11364 102582 P40763 P40763 APRF Signal transducer and activator of transcription 3 (acute-phase response factor) hrdo:gen_id_16806 STRA6 ENSG00000137868 STRA6 30650 610745 Q9BX79 FLJ12541 Stimulated by retinoic acid gene 6 homolog (mouse) hrdo:gen_id_16807 REN ENSG00000143839 REN 9958 179820 P00797 Renin hrdo:gen_id_16808 AGTR1 ENSG00000144891 AGTR1 336 34 106165 P30556 P30556 AG2S AGTR1A AGTR1B AT1 AT1B AT2R1 AT2R1A AT2R1B HAT1R Angiotensin II receptor, type 1 hrdo:gen_id_16809 SMS ENSG00000102172 SMS 11123 300105 P52788 P52788 MRSR SPMSY SRS SpS Spermine synthase hrdo:gen_id_16810 CLINT1 ENSG00000113282 CLINT1 23186 607265 Q14677 Q14677 CLINT ENTH EPNR KIAA0171 Clathrin interactor 1 hrdo:gen_id_16811 FXYD6 ENSG00000137726 FXYD6 4030 606683 Q9H0Q3 FXYD domain containing ion transport regulator 6 hrdo:gen_id_16812 VANGL1 ENSG00000173218 VANGL1 15512 610132 Q8TAA9 STB2 Vang-like 1 (van gogh, Drosophila) hrdo:gen_id_16813 MTHFD1 ENSG00000100714 MTHFD1 7432 172460 P11586 P11586 MTHFC MTHFD Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 hrdo:gen_id_16814 AMN ENSG00000166126 AMN 14604 605799 Q9BXJ7 Q9BXJ7 Amnionless homolog (mouse) hrdo:gen_id_16815 FGD4 ENSG00000139132 FGD4 19125 611104 Q96M96 Q96M96 FRABP Frabin ZFYVE6 FYVE, RhoGEF and PH domain containing 4 hrdo:gen_id_16816 C1QTNF5 ENSG00000223953 C1QTNF5 14344 608752 Q9BXJ0 CTRP5 C1q and tumor necrosis factor related protein 5 hrdo:gen_id_16817 IGF1R ENSG00000140443 IGF1R 5465 147370 P08069 CD221 IGFIR JTK13 MGC18216 Insulin-like growth factor 1 receptor hrdo:gen_id_16818 PHF8 ENSG00000172943 PHF8 20672 300560 Q9UPP1 JHDM1F KIAA1111 ZNF422 PHD finger protein 8 hrdo:gen_id_16819 HBA1 ENSG00000206172 HBA1 4823 141800 P69905 Hemoglobin, alpha 1 hrdo:gen_id_16821 SHFM1 ENSG00000127922 SHFM1 10845 601285 P60896 DSS1 ECD SEM1 SHFD1 SHSF1 Shfdg1 Split hand/foot malformation (ectrodactyly) type 1 hrdo:gen_id_16822 SUMO1 ENSG00000116030 SUMO1 12502 601912 P63165 P63165 GMP1 OFC10 PIC1 SMT3C SMT3H3 SUMO-1 UBL1 Ubiquitin-like 1 (sentrin) SMT3 suppressor of mif two 3 homolog 1 (S. cerevisiae) hrdo:gen_id_16823 RAX2 ENSG00000173976 RAX2 18286 610362 Q96IS3 MGC15631 RAXL1 Retina and anterior neural fold homeobox 2 hrdo:gen_id_16824 HTRA1 ENSG00000166033 HTRA1 9476 602194 Q92743 HtrA IGFBP5-protease PRSS11 HtrA serine peptidase 1 hrdo:gen_id_16825 KCNQ1OT1 ENSG00000258492 KCNQ1OT1 6295 604115 KvDMR1 KvLQT1-AS LIT1 KCNQ1 overlapping transcript 1 (non-protein coding) hrdo:gen_id_16827 CYBA ENSG00000051523 CYBA 2577 608508 P13498 P13498 Cytochrome b-245, alpha polypeptide hrdo:gen_id_16828 RAF1 ENSG00000132155 RAF1 9829 164760 P04049 P04049 CRAF Raf-1 c-Raf v-raf-1 murine leukemia viral oncogene homolog 1 hrdo:gen_id_16829 HLA-DQA1 ENSG00000196735 HLA-DQA1 4942 146880 P01907 P01907 CELIAC1 HLA-DQA Major histocompatibility complex, class II, DQ alpha 1 hrdo:gen_id_16830 XIAP ENSG00000101966 XIAP 592 300079 P98170 P98170 API3 BIRC4 Baculoviral IAP repeat-containing 4 X-linked inhibitor of apoptosis hrdo:gen_id_16831 RMRP ENSG00000199916 RMRP 10031 157660 CHH RMRPR RNA component of mitochondrial RNA processing endoribonuclease hrdo:gen_id_16832 MNX1 ENSG00000130675 MNX1 4979 142994 P50219 HB9 HLXB9 HOXHB9 SCRA1 Motor neuron and pancreas homeobox 1 hrdo:gen_id_16834 HADHB ENSG00000138029 HADHB 4803 143450 P55084 P55084 Hydroxyacyl-Coenzyme A dehydrogenase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit hrdo:gen_id_16835 ACTA2 ENSG00000107796 ACTA2 130 102620 P62736 P62736 ACTSA Actin, alpha 2, smooth muscle, aorta hrdo:gen_id_16837 LEPRE1 ENSG00000117385 LEPRE1 19316 610339 Q32P28 GROS1 P3H1 Leucine proline-enriched proteoglycan (leprecan) 1 hrdo:gen_id_16838 CRTAP ENSG00000170275 CRTAP 2379 605497 O75718 CASP LEPREL3 Cartilage associated protein hrdo:gen_id_16839 CASP8 ENSG00000064012 CASP8 1509 601763 Q14790 Q14790 FLICE MACH MCH5 Caspase 8, apoptosis-related cysteine peptidase hrdo:gen_id_16841 MT-TL1 MT-TL1 7490 590050 MTTL1 TRNL1 Mitochondrially encoded tRNA leucine 1 (UUA/G) hrdo:gen_id_16842 MT-TK MT-TK 7489 590060 Mitochondrially encoded tRNA lysine hrdo:gen_id_16843 MT-RNR1 MT-RNR1 7470 561000 MTRNR1 Mitochondrially encoded 12S RNA hrdo:gen_id_16844 MT-TQ MT-TQ 7495 590030 trnQ Mitochondrially encoded tRNA glutamine hrdo:gen_id_16858 PRSS2 PRSS2 9483 601564 P07478 P07478 TRY2 Protease, serine, 2 (trypsin 2) hrdo:gen_id_16859 CTRC ENSG00000162438 CTRC 2523 601405 Q99895 CLCR ELA4 Chymotrypsin C (caldecrin) hrdo:gen_id_16860 AKR1D1 ENSG00000122787 AKR1D1 388 604741 P51857 P51857 SRDB5 Aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) hrdo:gen_id_16861 BCL11A ENSG00000119866 BCL11A 13221 606557 Q9H165 BCL11A-L BCL11A-S BCL11A-XL Evi9 B-cell CLL/lymphoma 11A (zinc finger protein) hrdo:gen_id_16862 BIN1 ENSG00000136717 BIN1 1052 601248 O00499 AMPH2 AMPHL SH3P9 Bridging integrator 1 hrdo:gen_id_16863 CD24 CD24A 1645 600074 P25063 P25063 CD24A CD24 molecule hrdo:gen_id_16864 CHMP4B ENSG00000101421 CHMP4B 16171 610897 Q9H444 Q9H444 SNF7-2 Shax1 dJ553F4.4 Chromatin modifying protein 4B hrdo:gen_id_16865 ERCC1 ENSG00000012061 ERCC1 3433 126380 P07992 P07992 RAD10 Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) hrdo:gen_id_16866 ETV6 ENSG00000139083 ETV6 3495 600618 P41212 TEL Ets variant gene 6 (TEL oncogene) hrdo:gen_id_16867 KLK4 ENSG00000167749 KLK4 6365 603767 Q9Y5K2 EMSP EMSP1 KLK-L1 PSTS Kallikrein-related peptidase 4 hrdo:gen_id_16868 MESP2 ENSG00000188095 MESP2 29659 605195 Q0VG99 SCDO2 Mesoderm posterior 2 homolog hrdo:gen_id_16869 MMP20 ENSG00000137674 MMP20 7167 604629 O60882 Matrix metallopeptidase 20 (enamelysin) hrdo:gen_id_16870 MTMR14 ENSG00000163719 MTMR14 26190 611089 Q8NCE2 FLJ22405 FLJ90311 hEDTP hJumpy Myotubularin related protein 14 hrdo:gen_id_16871 NLRP1 ENSG00000091592 NLRP1 14374 606636 Q9C000 Q9C000 KIAA0926 NLR family, pyrin domain containing 1 hrdo:gen_id_16872 NDUFA1 ENSG00000125356 NDUFA1 7683 300078 O15239 O15239 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa hrdo:gen_id_16873 PALB2 ENSG00000083093 PALB2 26144 610355 Q86YC2 Q86YC2 FANCN FLJ21816 Partner and localizer of BRCA2 hrdo:gen_id_16874 SLC46A1 ENSG00000076351 SLC46A1 30521 611672 Q96NT5 Q96NT5 HCP1 MGC9564 Solute carrier family 46 (folate transporter), member 1 hrdo:gen_id_16875 SLC35A1 ENSG00000164414 SLC35A1 11021 605634 P78382 P78382 Solute carrier family 35 (CMP-sialic acid transporter), member A1 hrdo:gen_id_16876 TAF1 ENSG00000147133 TAF1 11535 313650 P21675 P21675 BA2R CCG1 CCGS TAF2A TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa hrdo:gen_id_16877 TNF ENSG00000204490 TNF 11892 191160 P01375 P01375 DIF TNFA YNSF2 Tumor necrosis factor (TNF superfamily, member 2) hrdo:gen_id_16878 LTA ENSG00000238130 LTA 6709 153440 P01374 LT TNFB TNFSF1 Lymphotoxin alpha (TNF superfamily, member 1) hrdo:gen_id_16879 DFNB31 ENSG00000095397 DFNB31 16361 607928 Q9P202 CIP998 USH2D WHRN Deafness, autosomal recessive 31 hrdo:gen_id_16925 MC1R ENSG00000258839 MC1R 6929 282 155555 Q01726 Q01726 Melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) hrdo:gen_id_16926 TMPRSS6 ENSG00000187045 TMPRSS6 16517 609862 Q8IU80 Transmembrane protease, serine 6 hrdo:gen_id_16928 USH1E 12599 Usher syndrome 1E (autosomal recessive, severe) hrdo:gen_id_16929 FAM83H ENSG00000180921 FAM83H 24797 611927 Q6ZRV2 FLJ46072 Family with sequence similarity 83, member H hrdo:gen_id_16930 FBLN1 ENSG00000077942 FBLN1 3600 135820 P23142 FBLN Fibulin 1 hrdo:gen_id_16931 DYT7 3107 Dystonia 7, torsion (autosomal dominant) hrdo:gen_id_16932 YARS ENSG00000134684 YARS 12840 603623 P54577 P54577 YRS YTS tyrRS Tyrosyl-tRNA synthetase hrdo:gen_id_16934 UBA1 ENSG00000130985 UBA1 12469 314370 P22314 P22314 A1S9T GXP1 UBE1 UBEX1 Ubiquitin-like modifier activating enzyme 1 hrdo:gen_id_16935 OSMR ENSG00000145623 OSMR 8507 601743 Q99650 OSMRB Oncostatin M receptor hrdo:gen_id_16936 FHL1 ENSG00000022267 FHL1 3702 300163 Q13642 SLIM1 Four and a half LIM domains 1 hrdo:gen_id_16937 BMP4 ENSG00000125378 BMP4 1071 112262 P12644 BMP2B Bone morphogenetic protein 4 hrdo:gen_id_16938 TINF2 ENSG00000092330 TINF2 11824 604319 Q9BSI4 Q9BSI4 TIN2 TERF1 (TRF1)-interacting nuclear factor 2 hrdo:gen_id_16939 ADCK3 ENSG00000163050 CABC1 16812 606980 Q8NI60 CABC1 COQ8 Chaperone, ABC1 activity of bc1 complex homolog (S. pombe) Coenzyme Q8 homolog SCAR9 AarF domain containing kinase 3 hrdo:gen_id_16940 SLC16A12 ENSG00000152779 SLC16A12 23094 611910 Q6ZSM3 MCT12 Solute carrier family 16 (monocarboxylic acid transporters), member 12 Solute carrier family 16, member 12 (monocarboxylic acid transporter 12) hrdo:gen_id_16942 DCTN1 ENSG00000204843 DCTN1 2711 601143 Q14203 Q14203 Dynactin 1 (p150, glued homolog, Drosophila) hrdo:gen_id_16943 MRPS22 ENSG00000175110 MRPS22 14508 605810 P82650 C3orf5 GIBT GK002 MRP-S22 Mitochondrial ribosomal protein S22 hrdo:gen_id_16944 RNF135 ENSG00000181481 RNF135 21158 611358 Q8IUD6 Q8IUD6 MGC13061 Ring finger protein 135 hrdo:gen_id_16981 MT-TE MT-TE 7479 590025 MTTE tRNA glutamic acid trnE Mitochondrially encoded tRNA glutamic acid hrdo:gen_id_16982 LCA5 ENSG00000135338 LCA5 31923 611408 Q86VQ0 C6orf152 lebercilin Leber congenital amaurosis 5 hrdo:gen_id_16985 RPGRIP1L ENSG00000103494 RPGRIP1L 29168 610937 Q68CZ1 CORS3 JBTS7 KIAA1005 MKS5 NPHP8 RPGRIP1-like hrdo:gen_id_16987 CDAN3 CDAN3 1715 105600 CDAIII Congenital dyserythropoietic anemia, type III gene hrdo:gen_id_16988 ABCA3 ENSG00000167972 ABCA3 33 601615 Q99758 Q99758 ABC-C ABC3 EST111653 LBM180 ATP-binding cassette, sub-family A (ABC1), member 3 hrdo:gen_id_16989 CTAA1 CTAA1 2489 115650 Cataract, anterior polar 1 gene hrdo:gen_id_16990 MAF ENSG00000178573 MAF 6776 177075 O75444 V-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian) hrdo:gen_id_17094 NKX2-1 ENSG00000136352 NKX2-1 11825 600635 P43699 BCH NKX2A TITF1 TTF-1 Thyroid transcription factor 1 benign chorea gene NK2 homeobox 1 hrdo:gen_id_17187 DARS2 ENSG00000117593 DARS2 25538 610956 Q6PI48 Q6PI48 Aspartate tRNA ligase 2, mitochondrial FLJ10514 Aspartyl-tRNA synthetase 2, mitochondrial hrdo:gen_id_17188 PDP1 ENSG00000164951 PDP1 9279 605993 Q9P0J1 Q9P0J1 PDH PDP PPM2C Pyruvate dehyrogenase phosphatase catalytic subunit 1 hrdo:gen_id_17189 TREH ENSG00000118094 TREH 12266 275360 O43280 O43280 MGC129621 TRE TREA alpha,alpha-trehalase alpha,alpha-trehalose glucohydrolase Trehalase (brush-border membrane glycoprotein) hrdo:gen_id_17190 PNPLA6 ENSG00000032444 PNPLA6 16268 603197 Q8IY17 NTE SWS Patatin-like phospholipase domain containing 6 hrdo:gen_id_17194 BCL6 ENSG00000113916 BCL6 1001 109565 P41182 BCL5 BCL6A LAZ3 ZBTB27 ZNF51 B-cell CLL/lymphoma 6 (zinc finger protein 51) hrdo:gen_id_17195 CFB ENSG00000243649 CFB 1037 138470 P00751 P00751 B-factor, properdin Complement factor B hrdo:gen_id_17196 RPS17 ENSG00000184779 RPS17 10397 180472 P08708 P08708 Ribosomal protein S17 hrdo:gen_id_17197 ATXN8OS ENSG00000230223 ATXN8OS 10561 603680 Ataxin 8 opposite strand hrdo:gen_id_17198 BMP15 ENSG00000130385 BMP15 1068 300247 O95972 Bone morphogenetic protein 15 hrdo:gen_id_17199 SEMA4A ENSG00000196189 SEMA4A 10729 607292 Q9H3S1 Q9H3S1 FLJ12287 RP35 SEMAB SemB Sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A hrdo:gen_id_17200 SEMA5A ENSG00000112902 SEMA5A 10736 609297 Q13591 Q13591 Sema domain, seven thrombospondin repeats, transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A hrdo:gen_id_17202 SIM1 ENSG00000112246 SIM1 10882 603128 P81133 single-minded (Drosophila) homolog 1 Single-minded homolog 1 (Drosophila) hrdo:gen_id_17203 SLC11A1 ENSG00000018280 SLC11A1 10907 600266 P49279 P49279 LSH NRAMP NRAMP1 Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 hrdo:gen_id_17204 SLC25A3 ENSG00000075415 SLC25A3 10989 600370 Q00325 PHC 'Solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3' hrdo:gen_id_17205 SLC2A1 ENSG00000117394 SLC2A1 11005 138140 P11166 P11166 DYT18 GLUT GLUT1 Solute carrier family 2 (facilitated glucose transporter), member 1 hrdo:gen_id_17206 SLC6A5 ENSG00000165970 SLC6A5 11051 604159 Q9Y345 Q9Y345 NET1 Solute carrier family 6 (neurotransmitter transporter, glycine), member 5 hrdo:gen_id_17207 SLC9A6 ENSG00000198689 SLC9A6 11079 300231 Q92581 Q92581 KIAA0267 NHE6 solute carrier family 9 (sodium/hydrogen exchanger), isoform 6 Solute carrier family 9 (sodium/hydrogen exchanger), member 6 hrdo:gen_id_17217 SNCB ENSG00000074317 SNCB 11140 602569 Q16143 Synuclein, beta hrdo:gen_id_17218 SREBF2 ENSG00000198911 SREBF2 11290 600481 Q12772 Q12772 SREBP2 Sterol regulatory element binding transcription factor 2 hrdo:gen_id_17219 SSX2 ENSG00000241476 SSX2 11336 300192 Q16385 HD21 HOM-MEL-40 SSX Synovial sarcoma, X breakpoint 2 hrdo:gen_id_17223 SUCLG1 ENSG00000163541 SUCLG1 11449 611224 P53597 P53597 Succinate-CoA ligase, GDP-forming, alpha subunit Succinate-CoA ligase, alpha subunit hrdo:gen_id_17226 TARDBP ENSG00000120948 TARDBP 11571 605078 Q13148 ALS10 TDP-43 TAR DNA binding protein hrdo:gen_id_17227 HNF1A ENSG00000135100 HNF1A 11621 142410 P20823 P20823 HNF1 MODY3 transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor HNF1 homeobox A hrdo:gen_id_17228 HNF1B ENSG00000108753 HNF1B 11630 189907 P35680 P35680 LFB3 TCF2 VHNF1 transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor HNF1 homeobox B hrdo:gen_id_17229 TCF4 ENSG00000196628 TCF4 11634 602272 P15884 P15884 Transcription factor 4 hrdo:gen_id_17254 TGFA ENSG00000163235 TGFA 11765 190170 P01135 Transforming growth factor, alpha hrdo:gen_id_17255 TMPO ENSG00000120802 TMPO 11875 188380 P42166 LAP2 LEM domain containing 4 LEMD4 TP Thymopoietin hrdo:gen_id_17256 TNFSF11 ENSG00000120659 TNFSF11 11926 602642 O14788 CD254 ODF OPGL RANKL TRANCE Tumor necrosis factor (ligand) superfamily, member 11 hrdo:gen_id_17257 TNNC1 ENSG00000114854 TNNC1 11943 191040 P63316 P63316 Troponin C, slow Troponin C type 1 (slow) hrdo:gen_id_17258 GIGYF2 ENSG00000204120 GIGYF2 11960 612003 Q6Y7W6 GYF2 KIAA0642 PERQ amino acid rich, with GYF domain 2 PERQ amino acid rich, with GYF domain 3 trinucleotide repeat containing 15 GRB10 interacting GYF protein 2 hrdo:gen_id_17260 TYK2 ENSG00000105397 TYK2 12440 176941 P29597 P29597 JTK1 Tyrosine kinase 2 hrdo:gen_id_17261 UBE2A ENSG00000077721 UBE2A 12472 312180 P49459 P49459 HHR6A UBC2 Ubiquitin-conjugating enzyme E2A (RAD6 homolog) hrdo:gen_id_17262 UFD1L ENSG00000070010 UFD1L 12520 601754 Q92890 UFD1 Ubiquitin fusion degradation 1 like hrdo:gen_id_17263 VCL ENSG00000035403 VCL 12665 193065 P18206 P18206 Metavinculin Vinculin hrdo:gen_id_17265 WBSCR2 WBSCR2 12746 WSCR2 Williams-Beuren syndrome chromosome region 2 hrdo:gen_id_17269 ZNF41 ENSG00000147124 ZNF41 13107 314995 P51814 P51814 MGC8941 MRX89 Zinc finger protein 41 hrdo:gen_id_17270 SNORD116@ SNORD116@ 32781 605436 HBII-85 PET1 PWCR1 Prader-Willi syndrome chromosome region 1 Small nucleolar RNA, C/D box 116 cluster hrdo:gen_id_17271 CYFIP1 ENSG00000068793 CYFIP1 13759 606322 Q7L576 KIAA0068 P140SRA-1 SHYC Cytoplasmic FMR1 interacting protein 1 hrdo:gen_id_17272 AUTS2 ENSG00000158321 AUTS2 14262 607270 Q8WXX7 KIAA0442 Autism susceptibility candidate 2 hrdo:gen_id_17273 NOP10 ENSG00000182117 NOP10 14378 606471 Q9NPE3 MGC70651 NOLA3 NOP10P NOP10 ribonucleoprotein homolog (yeast) hrdo:gen_id_17275 MEG3 ENSG00000214548 MEG3 14575 605636 Q9UI56 GTL2 Maternally expressed 3 hrdo:gen_id_17276 RTL1 ENSG00000254656 RTL1 14665 611896 A6NKG5 MART1 Mar1 PEG11 Retrotransposon-like 1 hrdo:gen_id_17277 LPAR6 ENSG00000139679 P2RY5 15520 163 609239 P43657 P43657 P2RY5 P2Y5 Lysophosphatidic acid receptor 6 hrdo:gen_id_17279 FERMT1 ENSG00000101311 FERMT1 15889 607900 Q9BQL6 FLJ20116 KIND1 UNC112A URP1 Fermitin family homolog 1 (Drosophila) hrdo:gen_id_17280 STRC ENSG00000242866 STRC 16035 606440 Q7RTU9 DFNB16 Stereocilin hrdo:gen_id_17281 PCNT ENSG00000160299 PCNT 16068 605925 O95613 O95613 KEN KIAA0402 PCN PCNTB SCKL4 Pericentrin hrdo:gen_id_17283 ACTN2 ENSG00000077522 ACTN2 164 102573 P35609 P35609 Actinin, alpha 2 hrdo:gen_id_17284 DNAJC30 ENSG00000176410 DNAJC30 16410 Q96LL9 WBSCR18 DnaJ (Hsp40) homolog, subfamily C, member 30 hrdo:gen_id_17285 CD3D ENSG00000167286 CD3D 1673 186790 P04234 P04234 CD3d antigen, delta polypeptide (TiT3 complex) CD3d molecule, delta (CD3-TCR complex) hrdo:gen_id_17286 CD3E ENSG00000198851 CD3E 1674 186830 P07766 P07766 CD3e antigen, epsilon polypeptide (TiT3 complex) CD3e molecule, epsilon (CD3-TCR complex) hrdo:gen_id_17288 FIG4 ENSG00000112367 FIG4 16873 609390 Q92562 KIAA0274 SAC3 dJ249I4.1 hSac3 FIG4 homolog (S. cerevisiae) hrdo:gen_id_17289 TRIOBP ENSG00000100106 TRIOBP 17009 609761 Q9H2D6 DFNB28 HRIHFB2122 KIAA1662 Tara TRIO and F-actin binding protein hrdo:gen_id_17290 SYNE1 ENSG00000131018 SYNE1 17089 608441 Q8NF91 Q8NF91 8B CPG2 Enaptin KIAA0796 MYNE1 Nesprin-1 SYNE-1B Spectrin repeat containing, nuclear envelope 1 hrdo:gen_id_17291 SUZ12 ENSG00000178691 SUZ12 17101 606245 Q15022 CHET9 JJAZ1 KIAA0160 Suppressor of zeste 12 homolog (Drosophila) hrdo:gen_id_17292 PLCE1 ENSG00000138193 PLCE1 17175 608414 Q9P212 KIAA1516 NPHS3 Nephrosis type 3 PLCE Phospholipase C, epsilon 1 hrdo:gen_id_17293 BRWD3 ENSG00000165288 BRWD3 17342 300553 Q6RI45 FLJ38568 Bromodomain and WD repeat domain containing 3 hrdo:gen_id_17294 CLCF1 ENSG00000175505 CLCF1 17412 607672 Q9UBD9 B-cell stimulating factor 3 BSF3 CISS2 CLC CRLF1 associated cytokine-like factor 1 NNT1 NR6 cold-induced sweating syndrome 2 gene Cardiotrophin-like cytokine factor 1 hrdo:gen_id_17295 ZNF674 ENSG00000251192 ZNF674 17625 300573 Q2M3X9 ZNF673B Zinc finger protein 674 hrdo:gen_id_17296 PORCN ENSG00000102312 PORCN 17652 300651 Q9H237 MG61 PORC PPN por Porcupine homolog (Drosophila) hrdo:gen_id_17298 RDX ENSG00000137710 RDX 9944 179410 P35241 P35241 DFNB24 Deafness, autosomal recessive 24 hrdo:gen_id_17299 TRPM7 ENSG00000092439 TRPM7 17994 499 605692 Q96QT4 CHAK1 LTRPC7 TRP-PLIK Transient receptor potential cation channel, subfamily M, member 7 hrdo:gen_id_17300 TMC6 ENSG00000141524 TMC6 18021 605828 Q7Z403 EVER1 EVIN1 LAK-4P epidermodysplasia verruciformis 1 Transmembrane channel-like 6 hrdo:gen_id_17301 CCDC50 ENSG00000152492 CCDC50 18111 611051 Q8IVM0 C3orf6 DFNA44 Ymer Coiled-coil domain containing 50 hrdo:gen_id_17302 ZDHHC9 ENSG00000188706 ZDHHC9 18475 300646 Q9Y397 CGI-89 CXorf11 Chromosome X open reading frame 11 ZDHHC10 ZNF379 ZNF380 zinc finger, DHHC-type containing 10 Zinc finger, DHHC-type containing 9 hrdo:gen_id_17303 ATP6V0A2 ENSG00000185344 ATP6V0A2 18481 611716 Q9Y487 Q9Y487 ATP6N1D ATP6a2 J6B7 Stv1 TJ6 TJ6M TJ6s Vph1 a2 ATPase, H+ transporting, lysosomal V0 subunit a2 hrdo:gen_id_17304 LIPH ENSG00000163898 LIPH 18483 607365 Q8WWY8 PLA1B mPA-PLA1 Lipase, member H hrdo:gen_id_17305 CATSPER2 ENSG00000166762 CATSPER 18810 389 607249 Q96P56 Cation channel, sperm associated 2 hrdo:gen_id_17306 TTBK2 ENSG00000128881 TTBK2 19141 611695 Q6IQ55 KIAA0847 Spinocerebellar ataxia 11 gene Tau tubulin kinase 2 hrdo:gen_id_17307 CHRNA2 ENSG00000120903 CHRNA2 1956 463 118502 Q15822 Q15822 Cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal) Cholinergic receptor, nicotinic, alpha 2 (neuronal) hrdo:gen_id_17314 KCNV2 ENSG00000168263 KCNV2 19698 566 607604 Q8TDN2 Q8TDN2 Potassium channel, subfamily V, member 2 hrdo:gen_id_17315 VSX2 ENSG00000119614 VSX2 1975 142993 P58304 CHX10 HOX10 RET1 Visual system homeobox 2 hrdo:gen_id_17316 SPRED1 ENSG00000166068 SPRED1 20249 609291 Q7Z699 FLJ33903 Sprouty-related, EVH1 domain containing 1 hrdo:gen_id_17317 CLCNKA ENSG00000186510 CLCNKA 2026 602024 P51800 hClC-Ka Chloride channel Ka hrdo:gen_id_17318 UPF3B ENSG00000125351 UPF3B 20439 300298 Q9BZI7 Q9BZI7 HUPF3B RENT3B UPF3X UPF3 regulator of nonsense transcripts homolog B (yeast) hrdo:gen_id_17322 TMC8 ENSG00000167895 TMC8 20474 605829 Q8IU68 EVER2 EVIN2 Transmembrane channel-like 8 hrdo:gen_id_17323 ZFYVE26 ENSG00000072121 ZFYVE26 20761 612012 Q68DK2 KIAA0321 SPG15 Zinc finger, FYVE domain containing 26 hrdo:gen_id_17324 TUBA1A ENSG00000167552 TUBA1A 20766 602529 Q71U36 Q71U36 B-ALPHA-1 FLJ25113 TUBA3 Tubulin, alpha, brain-specific Tubulin, alpha 1a hrdo:gen_id_17326 SLC39A13 ENSG00000165915 SLC39A13 20859 608735 Q96H72 FLJ25785 Solute carrier family 39 (metal ion transporter), member 13 Solute carrier family 39 (zinc transporter), member 13 hrdo:gen_id_17329 LHFPL5 ENSG00000197753 LHFPL5 21253 609427 Q8TAF8 DFNB67 MGC33835 Tmhs dJ510O8.8 Lipoma HMGIC fusion partner-like 5 hrdo:gen_id_17330 DSG4 ENSG00000175065 DSG4 21307 607892 Q86SJ6 CDHF13 LAH Desmoglein 4 hrdo:gen_id_17331 RARS2 ENSG00000146282 RARS2 21406 611524 Q5T160 Q5T160 Arginyl-tRNA synthetase-like DALRD2 MGC14993 MGC23778 PRO1992 dJ382I10.6 Arginyl-tRNA synthetase 2, mitochondrial hrdo:gen_id_17332 CNGB1 ENSG00000070729 CNGB1 2151 398 600724 Q14028 CNCG2 CNCG3L CNGB1B GAR1 GARP RCNC2 RCNCb Cyclic nucleotide gated channel beta 1 hrdo:gen_id_17333 TOPORS ENSG00000197579 TOPORS 21653 609507 Q9NS56 LUN RP31 Retinitis pigmentosa 31 (autosomal dominant) TP53BPL Topoisomerase I binding, arginine/serine-rich hrdo:gen_id_17334 RBM28 ENSG00000106344 RBM28 21863 612074 Q9NW13 FLJ10377 RNA binding motif protein 28 hrdo:gen_id_17336 MED13L ENSG00000123066 MED13L 22962 608771 Q71F56 Q71F56 KIAA1025 THRAP2 TRAP240L Thyroid hormone receptor associated protein 2 Mediator complex subunit 13-like hrdo:gen_id_17337 ZNF469 ENSG00000225614 ZNF469 23216 612078 Q96JG9 KIAA1858 Zinc finger protein 469 hrdo:gen_id_17338 ZFP90 ENSG00000184939 ZFP90 23329 609451 Q8TF47 Q8TF47 KIAA1954 NK10 ZNF756 Zinc finger protein 90 homolog (mouse) hrdo:gen_id_17339 VKORC1 ENSG00000167397 VKORC1 23663 608547 Q9BQB6 Q9BQB6 VKCFD2 Vitamin K dependent clotting factors deficiency 2 Vitamin K epoxide reductase complex, subunit 1 hrdo:gen_id_17340 CSF3R ENSG00000119535 CSF3R 2439 138971 Q99062 CGSFR Colony stimulating factor 3 receptor (granulocyte) hrdo:gen_id_17342 CTNND2 ENSG00000169862 CTNND2 2516 604275 Q9UQB3 GT24 NPRAP Catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) hrdo:gen_id_17343 CTSD ENSG00000117984 CTSD 2529 116840 P07339 CLN10 CPSD cathepsin D (lysosomal aspartyl protease) ceroid-lipofuscinosis, neuronal 10 Cathepsin D hrdo:gen_id_17344 MAMLD1 ENSG00000013619 MAMLD1 2568 300120 Q13495 Q13495 CG1 CXorf6 Chromosome X open reading frame 6 F18 Mastermind-like domain containing 1 hrdo:gen_id_17345 NHEJ1 ENSG00000187736 NHEJ1 25737 611290 Q9H9Q4 Cernunnos FLJ12610 XLF Nonhomologous end-joining factor 1 hrdo:gen_id_17346 GRHL2 ENSG00000083307 GRHL2 2799 608576 Q6ISB3 BOM DFNA28 Deafness, autosomal dominant 28 FLJ13782 TFCP2L3 Grainyhead-like 2 (Drosophila) hrdo:gen_id_17347 FAM58A ENSG00000147382 FAM58A 28434 300708 Q8N1B3 MGC29729 Family with sequence similarity 58, member A hrdo:gen_id_17348 TMEM43 ENSG00000170876 TMEM43 28472 612048 Q9BTV4 DKFZp586G1919 MGC3222 Transmembrane protein 43 hrdo:gen_id_17349 MFSD8 ENSG00000164073 MFSD8 28486 611124 Q8NHS3 CLN7 Ceroid-lipofuscinosis, neuronal 7, late infantile, variant gene MGC33302 Major facilitator superfamily domain containing 8 hrdo:gen_id_17350 DHFR ENSG00000228716 DHFR 2861 126060 P00374 P00374 Dihydrofolate reductase hrdo:gen_id_17351 ABCA1 ENSG00000165029 ABCA1 29 600046 O95477 O95477 ABC1 HDLDT1 Tangier disease gene ATP-binding cassette, sub-family A (ABC1), member 1 hrdo:gen_id_17352 DLK1 ENSG00000185559 DLK1 2907 176290 P80370 P80370 FA1 Pref-1 ZOG pG2 Delta-like 1 homolog (Drosophila) hrdo:gen_id_17353 CC2D2A ENSG00000048342 CC2D2A 29253 612013 Q9P2K1 KIAA1345 MKS6 Meckel syndrome, type 6 Coiled-coil and C2 domain containing 2A hrdo:gen_id_17354 RMST ENSG00000255794 RMST 29893 607045 NCRMS Rhabdomyosarcoma 2 associated transcript (non-protein coding) hrdo:gen_id_17355 UBIAD1 ENSG00000120942 UBIAD1 30791 611632 Q9Y5Z9 TERE1 UbiA prenyltransferase domain containing 1 hrdo:gen_id_17356 TYMP ENSG00000025708 TYMP 3148 131222 P19971 P19971 ECGF1 Endothelial cell growth factor 1 (platelet-derived) Gliostatin MNGIE Thymidine phosphorylase hrdo:gen_id_17357 EHHADH ENSG00000113790 EHHADH 3247 607037 Q08426 ECHD Enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase hrdo:gen_id_17358 SNORD11 ENSG00000238317 SNORD11 32707 HBII-95 Small nucleolar RNA, C/D box 11 hrdo:gen_id_17359 NKX2-6 ENSG00000180053 NKX2-6 32940 611770 A6NCS4 CSX2 NKX2-4 NK2 transcription factor related, locus 6 (Drosophila) hrdo:gen_id_17360 EPB42 ENSG00000166947 EPB42 3381 177070 P16452 Erythrocyte surface protein band 4.2 MGC116735 MGC116737 PA Erythrocyte membrane protein band 4.2 hrdo:gen_id_17361 FCGR3B ENSG00000162747 FCGR3B 3620 610665 O75015 CD16 CD16b FCG3 FCGR3 Fc fragment of IgG, low affinity IIIb, receptor (CD16b) hrdo:gen_id_17362 FGF3 ENSG00000186895 FGF3 3681 164950 P11487 P11487 HBGF-3 INT-2 proto-oncogene protein V-INT2 murine mammary tumor virus integration site oncogene homolog oncogene INT2 Fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog) hrdo:gen_id_17363 FHL2 ENSG00000115641 FHL2 3703 602633 Q14192 Q14192 DRAL SLIM3 Four and a half LIM domains 2 hrdo:gen_id_17364 FMR3 FMR3 3777 Fragile X mental retardation associated 3 hrdo:gen_id_17365 FN1 ENSG00000115414 FN1 3778 135600 P02751 P02751 CIG Cold-insoluble globulin GFND2 LETS MSF Migration-stimulating factor Fibronectin 1 hrdo:gen_id_17366 FOXH1 ENSG00000160973 FOXH1 3814 603621 O75593 O75593 FAST1 Forkhead box H1 hrdo:gen_id_17368 FTH1 ENSG00000167996 FTH1 3976 134770 P02794 P02794 FHC FTH FTHL6 PIG15 PLIF Ferritin, heavy polypeptide 1 hrdo:gen_id_17369 FUS ENSG00000089280 FUS 4010 137070 P35637 P35637 FUS1 Fusion, derived from t(12;16) malignant liposarcoma TLS hnRNP-P2 'Fusion (involved in t(12;16) in malignant liposarcoma)' hrdo:gen_id_17370 GABRB3 ENSG00000166206 GABRB3 4083 412 137192 P28472 P28472 Gamma-aminobutyric acid (GABA) A receptor, beta 3 hrdo:gen_id_17371 GCM2 ENSG00000124827 GCM2 4198 603716 O75603 GCMB Glial cells missing (Drosophila) homolog b hGCMb Glial cells missing homolog 2 (Drosophila) hrdo:gen_id_17372 GNRH1 ENSG00000147437 GNRH1 4419 152760 P01148 P01148 GNRH GRH LHRH Gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) hrdo:gen_id_17373 AMACR ENSG00000242110 AMACR 451 604489 Q9UHK6 Q9UHK6 RACE Alpha-methylacyl-CoA racemase hrdo:gen_id_17376 ANG ENSG00000214274 ANG 483 105850 P03950 RNASE5 Angiogenin, ribonuclease, RNase A family, 5 hrdo:gen_id_17377 HIBCH ENSG00000198130 HIBCH 4908 610690 Q6NVY1 Q6NVY1 3-hydroxyisobutyryl-Coenzyme A hydrolase gene hrdo:gen_id_17378 HLF ENSG00000108924 HLF 4977 142385 Q16534 MGC33822 Hepatic leukemia factor hrdo:gen_id_17379 HMX1 ENSG00000215612 HMX1 5017 142992 Q9NP08 H6 NKX5-3 H6 family homeobox 1 hrdo:gen_id_17381 HOXA2 ENSG00000105996 HOXA2 5103 604685 O43364 HOX1K Homeobox A2 hrdo:gen_id_17383 HYMAI HYMAI 5326 606546 Hydatidiform mole associated and imprinted hrdo:gen_id_17384 ICAM1 ENSG00000090339 ICAM 5344 147840 P05362 P05362 BB2 CD54 Intercellular adhesion molecule 1 hrdo:gen_id_17385 IGF2 ENSG00000167244 IGF2 5466 147470 P01344 P01344 Chromosome 11 open reading frame 43 FLJ44734 Insulin-like growth factor 2 (somatomedin A) hrdo:gen_id_17386 IL7R ENSG00000168685 IL7R 6024 146661 P16871 P16871 CD127 Interleukin 7 receptor hrdo:gen_id_17387 KCNC3 ENSG00000131398 KCNC3 6235 550 176264 Q14003 Q14003 SCA13 Potassium voltage-gated channel, Shaw-related subfamily, member 3 hrdo:gen_id_17388 KCNJ13 ENSG00000115474 KCNJ13 6259 443 603208 O60928 Potassium inwardly-rectifying channel, subfamily J, member 13 hrdo:gen_id_17389 LFNG ENSG00000106003 LFNG 6560 602576 Q8NES3 Q8NES3 LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase hrdo:gen_id_17390 LRP2 ENSG00000081479 LRP2 6694 600073 P98164 P98164 DBS Megalin gp330 Low density lipoprotein-related protein 2 hrdo:gen_id_17391 LRP6 ENSG00000070018 LRP6 6698 603507 O75581 Low density lipoprotein receptor-related protein 6 hrdo:gen_id_17392 MALT1 ENSG00000172175 MALT1 6819 604860 Q9UDY8 Q9UDY8 Paracaspase Mucosa associated lymphoid tissue lymphoma translocation gene 1 hrdo:gen_id_17394 MPST ENSG00000128309 MPST 7223 602496 P25325 MST TST2 Mercaptopyruvate sulfurtransferase hrdo:gen_id_17395 ASCL1 ENSG00000139352 ASCL1 738 100790 P50553 ASH1 HASH1 Achaete-scute complex homolog 1 (Drosophila) hrdo:gen_id_17396 MT-ATP8 ENSG00000229604 MT-ATP8 7415 516070 P03928 P03928 ATP synthase 8 ATP8 MTATP8 Mitochondrially encoded ATP synthase 8 hrdo:gen_id_17399 MYC ENSG00000136997 MYC 7553 190080 P01106 P01106 c-Myc V-myc myelocytomatosis viral oncogene homolog (avian) hrdo:gen_id_17400 NFKBIA ENSG00000100906 NFKBIA 7797 164008 P25963 P25963 IKBA MAD-3 Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha hrdo:gen_id_17401 NPM1 ENSG00000181163 NPM1 7910 164040 P06748 P06748 B23 NPM Nucleophosmin/nucleoplasmin family, member 1 Numatrin Nucleophosmin (nucleolar phosphoprotein B23, numatrin) hrdo:gen_id_17402 NR4A2 ENSG00000153234 NR4A2 7981 630 601828 P43354 P43354 HZF-3 NOT NURR1 RNR1 TINUR Nuclear receptor subfamily 4, group A, member 2 hrdo:gen_id_17404 PHKG2 ENSG00000156873 PHKG2 8931 172471 P15735 P15735 Phosphorylase kinase, gamma 2 (testis) hrdo:gen_id_17405 PLAGL1 ENSG00000118495 PLAGL1 9046 603044 Q9UM63 LOT1 ZAC Pleiomorphic adenoma gene-like 1 hrdo:gen_id_17406 PROM1 ENSG00000007062 PROM1 9454 604365 O43490 AC133 CD133 PROML1 Prominin 1 hrdo:gen_id_17408 ACADL ENSG00000115361 ACADL 88 609576 P28330 P28330 ACAD4 LCAD Acyl-Coenzyme A dehydrogenase, long chain hrdo:gen_id_17409 ACTB ENSG00000075624 ACTB 132 102630 P60709 P60709 Actin, beta hrdo:gen_id_17410 ACY1 ENSG00000243989 ACY1 177 104620 Q03154 Aminoacylase 1 hrdo:gen_id_17411 C10ORF2 ENSG00000107815 C10orf2 1160 606075 Q96RR1 FLJ21832 PEO PEO1 TWINKLE TWINL Chromosome 10 open reading frame 2 hrdo:gen_id_17412 ITPR1 ENSG00000150995 ITPR1 6180 147265 Q14643 Q14643 IP3R1 Insp3r1 spinocerebellar ataxia 15 gene spinocerebellar ataxia 16 gene Inositol 1,4,5-triphosphate receptor, type 1 hrdo:gen_id_17413 MAPK1 ENSG00000100030 MAPK1 6871 176948 P28482 P28482 Mitogen-activated protein kinase 1 hrdo:gen_id_17414 PSAT1 ENSG00000135069 PSAT1 19129 610936 Q9Y617 Q9Y617 PSA Phosphoserine aminotransferase 1 hrdo:gen_id_17415 SNORD115@ SNORD115@ 32780 HBII-52 Small nucleolar RNA, C/D box 115 cluster hrdo:gen_id_17416 ACVR2B ENSG00000114739 ACVR2B 174 602730 Q13705 Q13705 ActR-IIB Activin A receptor, type IIB hrdo:gen_id_17417 AGTR2 ENSG00000180772 AGTR2 338 35 300034 P50052 P50052 AT2 Angiotensin II receptor, type 2 hrdo:gen_id_17418 DLG3 ENSG00000082458 DLG3 2902 300189 Q92796 Q92796 KIAA1232 MRX90 NE-Dlg NEDLG SAP102 Discs, large homolog 3 (neuroendocrine-dlg, Drosophila) hrdo:gen_id_17419 IL1RAPL1 ENSG00000169306 IL1RAPL1 5996 300206 Q9NZN1 IL1RAPL MRX21 MRX34 Interleukin 1 receptor accessory protein-like 1 hrdo:gen_id_17420 OPHN1 ENSG00000079482 OPHN1 8148 300127 O60890 O60890 MRX60 OPN1 Oligophrenin 1 hrdo:gen_id_17421 PAK3 ENSG00000077264 PAK3 8592 300142 O75914 O75914 p21 protein (Cdc42/Rac)-activated kinase 3 hrdo:gen_id_17422 TUSC3 ENSG00000104723 TUSC3 30242 601385 Q13454 Q13454 MGC13453 N33 OST3A Tumor suppressor candidate 3 hrdo:gen_id_17423 TFAP2A ENSG00000137203 TFAP2A 11742 107580 P05549 AP-2 AP2TF TFAP2 Transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) hrdo:gen_id_17424 UQCRQ ENSG00000164405 UQCRQ 29594 612080 O14949 O14949 QCR8 QP-C Ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa hrdo:gen_id_17425 TMEM114 ENSG00000232258 TMEM114 33227 611579 B3SHH9 Transmembrane protein 114 hrdo:gen_id_17427 HRPT1 HRPT1 5190 145000 Hyperparathyroidism 1 gene hrdo:gen_id_17431 LIM2 ENSG00000105370 LIM2 6610 154045 P55344 MP17 MP19 Lens intrinsic membrane protein 2, 19kDa hrdo:gen_id_17432 LIPC ENSG00000166035 LIPC 6619 151670 P11150 P11150 Lipase, hepatic hrdo:gen_id_17433 IGFALS ENSG00000099769 IGFALS 5468 601489 P35858 P35858 Insulin-like growth factor binding protein, acid labile subunit hrdo:gen_id_17434 PNKD ENSG00000127838 PNKD 9153 609023 Q8N490 BRP17 DKFZp564N1362 DYT8 FKSG19 FPD1 KIAA1184 KIPP1184 MGC31943 MR-1 PDC TAHCCP2 Paroxysmal nonkinesigenic dyskinesia hrdo:gen_id_17437 DYT13 3101 Dystonia 13, torsion gene hrdo:gen_id_17438 CYP4F22 ENSG00000171954 CYP4F22 26820 611495 Q6NT55 FLJ39501 Cytochrome P450, family 4, subfamily F, polypeptide 22 hrdo:gen_id_17439 RAX ENSG00000134438 RAX 18662 601881 Q9Y2V3 Retina and anterior neural fold homeobox hrdo:gen_id_17440 AKAP9 ENSG00000127914 AKAP9 379 604001 Q9Y6Y2 Q9Y6Y2 AKAP350 AKAP450 CG-NAP HYPERION KIAA0803 MU-RMS-40.16A PRKA9 YOTIAO A kinase (PRKA) anchor protein (yotiao) 9 hrdo:gen_id_17441 SCN4B ENSG00000177098 SCN4B 10592 608256 Q8IWT1 Sodium channel, voltage-gated, type IV, beta hrdo:gen_id_17442 ALK ENSG00000171094 ALK 427 105590 Q9UM73 Anaplastic lymphoma kinase (Ki-1) CD246 Anaplastic lymphoma receptor tyrosine kinase hrdo:gen_id_17443 AURKC ENSG00000105146 AURKC 11391 603495 Q9UQB9 AurC STK3 Serine/threonine kinase 13 (aurora/IPL1-like) Aurora kinase C hrdo:gen_id_17444 APOC3 ENSG00000110245 APOC3 610 107720 P02656 P02656 Apolipoprotein C-III hrdo:gen_id_17445 BFSP1 ENSG00000125864 BFSP1 1040 603307 Q12934 CP115 CP94 Filensin LIFL-H Beaded filament structural protein 1, filensin hrdo:gen_id_17446 C3 ENSG00000125730 C3 1318 120700 P01024 P01024 CPAMD1 Complement component 3 hrdo:gen_id_17447 C4A ENSG00000206340 C4A 1323 120810 P0C0L4 P0C0L4 C4 C4A3 C4A4 C4A5 C4A6 C4B C4S CO4 CPAMD2 RG Complement component 4A (Rodgers blood group) hrdo:gen_id_17448 C4B ENSG00000224389 C4B 1324 120820 P0C0L5 P0C0L5 C4B1 C4B3 C4F CH CO4 CPAMD3 Complement component 4B (Childo blood group) hrdo:gen_id_17449 C5 ENSG00000106804 C5 1331 120900 P01031 P01031 CPAMD4 Complement component 5 hrdo:gen_id_17451 C6 ENSG00000039537 C6 1339 217050 P13671 P13671 Complement component 6 hrdo:gen_id_17452 C7 ENSG00000112936 C7 1346 217070 P10643 P10643 Complement component 7 hrdo:gen_id_17453 C8A ENSG00000157131 C8A 1352 120950 P07357 P07357 Complement component 8, alpha polypeptide hrdo:gen_id_17454 C8B ENSG00000021852 C8B 1353 120960 P07358 P07358 Complement component 8, beta polypeptide hrdo:gen_id_17455 C8G ENSG00000176919 C8G 1354 120930 P07360 P07360 Complement component 8, gamma polypeptide hrdo:gen_id_17456 C9 ENSG00000113600 C9 1358 120940 P02748 P02748 Complement component 9 hrdo:gen_id_17457 CACNA2D4 ENSG00000151062 CACNA2D4 20202 608171 Q7Z3S7 Calcium channel, voltage-dependent, alpha 2/delta subunit 4 hrdo:gen_id_17458 CR2 ENSG00000117322 CR2 2336 120650 P20023 CD21 Complement component (3d/Epstein Barr virus) receptor 2 hrdo:gen_id_17461 ERBB3 ENSG00000065361 ERBB3 3431 190151 P21860 P21860 HER3 LCCS2 v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 hrdo:gen_id_17462 ESPN ENSG00000187017 ESPN 13281 606351 B1AK53 DFNB36 Deafness, autosomal recessive 36 Espin hrdo:gen_id_17463 ESRRB ENSG00000119715 ESRRB 3473 623 602167 O95718 O95718 DFNB35 Deafness, autosomal recessive 35 ERR2 ERRb ERRbeta ESRL2 NR3B2 Estrogen-related receptor beta hrdo:gen_id_17464 MECOM ENSG00000085276 MECOM 3498 165215 Q03112 EVI1 MDS1 MDS1-EVI1 PRDM3 MDS1 and EVI1 complex locus hrdo:gen_id_17465 GLE1 ENSG00000119392 GLE1 4315 603371 Q53GS7 GLE1L LCCS1 hGLE1 lethal congenital contracture syndrome 1 gene GLE1 RNA export mediator homolog hrdo:gen_id_17467 IL2RA ENSG00000134460 IL2RA 6008 147730 P01589 P01589 CD25 IL2R Interleukin 2 receptor, alpha hrdo:gen_id_17468 IFT80 ENSG00000068885 IFT80 29262 611177 Q9P2H3 KIAA1374 WD repeat domain 56 WDR56 Intraflagellar transport 80 homolog hrdo:gen_id_17469 GYS1 ENSG00000104812 GYS1 4706 138570 P13807 P13807 GSY GYS Glycogen synthase 1 (muscle) hrdo:gen_id_17470 MARVELD2 ENSG00000152939 MARVELD2 26401 610572 Q8N4S9 DFNB49 Deafness, autosomal recessive 49 FLJ30532 MRVLDC2 TRIC Tricellulin MARVEL domain containing 2 hrdo:gen_id_17471 KANK1 ENSG00000107104 KANK1 19309 607704 Q14678 ANKRD15 Ankyrin repeat domain 15 KANK KIAA0172 KN motif and ankyrin repeat domains 1 hrdo:gen_id_17472 MT-TI MT-TI 7488 590045 tRNA isoleucine trnl Mitochondrially encoded tRNA isoleucine hrdo:gen_id_17473 MT-TW MT-TW 7501 590095 tRNA tryptophan trnW Mitochondrially encoded tRNA tryptophan hrdo:gen_id_17474 MUSK ENSG00000030304 MUSK 7525 601296 O15146 Muscle, skeletal, receptor tyrosine kinase hrdo:gen_id_17475 MYO3A ENSG00000095777 MYO3A 7601 606808 Q8NEV4 DFNB30 Deafness, autosomal recessive 30 Myosin IIIA hrdo:gen_id_17477 PDE6H ENSG00000139053 PDE6H 8790 601190 Q13956 Phosphodiesterase 6H, cGMP-specific, cone, gamma hrdo:gen_id_17478 PIP5K1C ENSG00000186111 PIP5K1C 8996 606102 O60331 O60331 KIAA0589 LCCS3 PIP5Kgamma Phosphatidylinositol-4-phosphate 5-kinase, type I, gamma hrdo:gen_id_17479 PITPNM3 ENSG00000091622 PITPNM3 21043 608921 Q9BZ71 NIR1 RDGBA3 PITPNM family member 3 hrdo:gen_id_17480 PLN ENSG00000198523 PLN 9080 172405 P26678 Phospholamban hrdo:gen_id_17481 PNPO ENSG00000108439 PNPO 30260 603287 Q9NVS9 Q9NVS9 PDXPO Pyridoxine 5'-phosphate oxidase Pyridoxamine 5'-phosphate oxidase hrdo:gen_id_17482 SLC26A5 ENSG00000170615 SLC26A5 9359 604943 P58743 DFNB61 PRES Solute carrier family 26, member 5 (prestin) hrdo:gen_id_17570 HES7 ENSG00000179111 HES7 15977 608059 Q9BYE0 bHLHb37 Hairy and enhancer of split 7 (Drosophila) hrdo:gen_id_17580 CSNK1D ENSG00000141551 CSNK1D 2452 600864 P48730 P48730 HCKID Casein kinase 1, delta hrdo:gen_id_17581 GLIS3 ENSG00000107249 GLIS3 28510 610192 Q8NEA6 MGC33662 ZNF515 GLIS family zinc finger 3 hrdo:gen_id_17582 ROBLD3 ENSG00000116586 MAPBPIP 29796 610389 Q5VY97 ENDAP MAPBPIP MAPKSP1AP p14 Roadblock domain containing 3 hrdo:gen_id_17583 CTGF ENSG00000118523 CTGF 2500 121009 P29279 P29279 CCN2 IGFBP8 Connective tissue growth factor hrdo:gen_id_17584 SCP2 ENSG00000116171 SCP2 10606 184755 P22307 P22307 Sterol carrier protein 2 hrdo:gen_id_17585 SCARB2 ENSG00000138760 SCARB2 1665 602257 Q14108 CD36L2 HLGP85 LIMPII SR-BII Scavenger receptor class B, member 2 hrdo:gen_id_17586 PREPL ENSG00000138078 PREPL 30228 609557 Q4J6C6 KIAA0436 Prolyl endopeptidase-like hrdo:gen_id_17587 CNTNAP2 ENSG00000174469 CNTNAP2 13830 604569 Q9UHC6 Caspr2 KIAA0868 NRXN4 Contactin associated protein-like 2 hrdo:gen_id_17591 CHRNB2 ENSG00000160716 CHRNB2 1962 472 118507 P17787 P17787 Cholinergic receptor, nicotinic, beta 2 (neuronal) hrdo:gen_id_17592 CASK ENSG00000147044 CASK 1497 300172 Q5VT19 Q5VT19 CAGH39 LIN2 TNRC8 Calcium/calmodulin-dependent serine protein kinase (MAGUK family) hrdo:gen_id_17607 ARHGEF9 ENSG00000131089 ARHGEF9 14561 300429 O43307 O43307 KIAA0424 PEM-2 Cdc42 guanine nucleotide exchange factor (GEF) 9 hrdo:gen_id_17623 KCNK9 ENSG00000169427 KCNK9 6283 520 605874 Q9NPC2 Q9NPC2 K2p9.1 TASK-3 TASK3 Potassium channel, subfamily K, member 9 hrdo:gen_id_17637 CNTN4 ENSG00000144619 CNTN4 2174 607280 Q8IWV2 BIG-2 Contactin 4 hrdo:gen_id_17638 CHL1 ENSG00000134121 CHL1 1939 607416 O00533 O00533 CALL FLJ44930 L1CAM2 MGC132578 Cell adhesion molecule with homology to L1CAM (close homolog of L1) hrdo:gen_id_17663 STXBP1 ENSG00000136854 STXBP1 11444 602926 P61764 P61764 MUNC18-1 UNC18 hUNC18 rbSec1 Syntaxin binding protein 1 hrdo:gen_id_17664 NDUFAF4 ENSG00000123545 NDUFAF4 21034 611776 Q9P032 C6orf66 HRPAP20 HSPC125 My013 bA22L21.1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4 hrdo:gen_id_17666 GFM1 ENSG00000168827 GFM1 13780 606639 Q96RP9 EFG EFG1 EFGM GFM G elongation factor, mitochondrial 1 hrdo:gen_id_17667 ITGA7 ENSG00000135424 ITGA7 6143 600536 Q13683 Q13683 Integrin, alpha 7 hrdo:gen_id_17668 CISD2 ENSG00000145354 CISD2 24212 611507 Q8N5K1 Miner1 ZCD2 CDGSH iron sulfur domain 2 hrdo:gen_id_17669 UQCRB ENSG00000156467 UQCRB 12582 191330 P14927 P14927 QCR7 QP-C UQBP Ubiquinol-cytochrome c reductase binding protein hrdo:gen_id_17670 TSHB ENSG00000134200 TSHB 12372 188540 P01222 P01222 Thyroid stimulating hormone, beta hrdo:gen_id_17671 MT-TH MT-TH 7487 590040 MTTH Mitochondrially encoded tRNA histidine hrdo:gen_id_17674 SLC22A12 ENSG00000197891 SLC22A12 17989 607096 Q96S37 Q96S37 OAT4L RST URAT1 Solute carrier family 22 (organic anion/urate transporter), member 12 hrdo:gen_id_17675 OTOA ENSG00000155719 OTOA 16378 607038 Q7RTW8 DFNB22 Otoancorin hrdo:gen_id_17676 MYO1A ENSG00000166866 MYO1A 7595 601478 Q9UBC5 DFNA48 MYHL Myosin IA hrdo:gen_id_17677 DFNB59 ENSG00000204311 DFNB59 29502 610219 Q0ZLH3 Deafness, autosomal recessive 59 hrdo:gen_id_17678 CRYM ENSG00000103316 CRYM 2418 123740 Q14894 DFNA40 Crystallin, mu hrdo:gen_id_17679 CLDN14 ENSG00000159261 CLDN14 2035 605608 O95500 O95500 DFNB29 Claudin 14 hrdo:gen_id_17680 ACTG1 ENSG00000184009 ACTG1 144 102560 P63261 P63261 ACTG DFNA20 DFNA26 Actin, gamma 1 hrdo:gen_id_17681 GDF1 ENSG00000130283 GDF1 4214 602880 P27539 P27539 Growth differentiation factor 1 hrdo:gen_id_17685 MED25 ENSG00000104973 MED25 28845 610197 Q71SY5 Q71SY5 ACID1 ARC92 DKFZp434K0512 TCBAP0758 Mediator complex subunit 25 hrdo:gen_id_17713 FOXG1 ENSG00000176165 FOXG1 3811 164874 P55316 BF1 FKH2 FKHL1 FKHL2 FKHL3 FKHL4 FOXG1A FOXG1B FOXG1C HBF-3 HFK1 HFK2 HFK3 QIN Forkhead box G1 hrdo:gen_id_17714 GPC4 ENSG00000076716 GPC4 4452 300168 O75487 Glypican 4 hrdo:gen_id_17715 TLR3 ENSG00000164342 TLR3 11849 603029 O15455 O15455 CD283 Toll-like receptor 3 hrdo:gen_id_17716 PGAM2 ENSG00000164708 PGAM2 8889 612931 P15259 P15259 PGAM-M Phosphoglycerate mutase 2 (muscle) hrdo:gen_id_17717 DDX3Y ENSG00000067048 DDX3Y 2699 400010 O15523 DBY DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked hrdo:gen_id_17718 PER2 ENSG00000132326 PER2 8846 603426 O15055 O15055 KIAA0347 Period homolog 2 (Drosophila) hrdo:gen_id_17719 PLEKHG5 ENSG00000171680 PLEKHG5 29105 611101 O94827 O94827 KIAA0720 Pleckstrin homology domain containing, family G (with RhoGef domain) member 5 hrdo:gen_id_17720 COX6B1 ENSG00000126267 COX6B1 2280 124089 P14854 P14854 COX6B COXG Cytochrome c oxidase subunit Vib polypeptide 1 (ubiquitous) hrdo:gen_id_17721 STX16 ENSG00000124222 STX16 11431 603666 Q9H0Z0 Q9H0Z0 SYN16 hsyn16 Syntaxin 16 hrdo:gen_id_17722 MT-TS1 MT-TS1 7497 590080 MTTS1 TRNS1 Mitochondrially encoded tRNA serine 1 (UCN) hrdo:gen_id_17723 MT-TS2 MT-TS2 7498 590085 MTTS2 TRNS2 Mitochondrially encoded tRNA serine 2 (AGU/C) hrdo:gen_id_17724 MT-TF MT-TF 7481 590070 MTTF trnF Mitochondrially encoded tRNA phenylalanine hrdo:gen_id_17725 DNAJC19 ENSG00000205981 DNAJC19 30528 608977 Q96DA6 Q96DA6 TIMM14 Tim14 DnaJ (Hsp40) homolog, subfamily C, member 19 hrdo:gen_id_17726 GRN ENSG00000030582 GRN 4601 138945 P28799 PCDGF PGRN progranulin Granulin hrdo:gen_id_17727 HPGD ENSG00000164120 HPGD 5154 601688 P15428 Hydroxyprostaglandin dehydrogenase 15-(NAD) hrdo:gen_id_17728 SLC35D1 ENSG00000116704 SLC35D1 20800 610804 Q9NTN3 Q9NTN3 KIAA0260 UGTREL7 Solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1 hrdo:gen_id_17729 GLUL ENSG00000135821 GLUL 4341 138290 P15104 P15104 GLNS Glutamate-ammonia ligase (glutamine synthetase) hrdo:gen_id_17730 KCNA5 ENSG00000130037 KCNA5 6224 542 176267 P22460 P22460 HK2 HPCN1 Kv1.5 Potassium voltage-gated channel, shaker-related subfamily, member 5 hrdo:gen_id_17731 MC4R ENSG00000166603 MC4R 6932 285 155541 P32245 P32245 Melanocortin 4 receptor hrdo:gen_id_17732 ISCU ENSG00000136003 ISCU 29882 611911 Q9H1K1 ISU2 IscU NIFUN hnifU Iron-sulfur cluster scaffold homolog (E. coli) hrdo:gen_id_17733 KYNU ENSG00000115919 KYNU 6469 605197 Q16719 Q16719 Kynureninase (L-kynurenine hydrolase) hrdo:gen_id_17734 RRM2B ENSG00000048392 RRM2B 17296 604712 Q9NTD8 Q9NTD8 p53R2 Ribonucleotide reductase M2 B (TP53 inducible) hrdo:gen_id_17735 SLC16A1 ENSG00000155380 SLC16A1 10922 600682 P53985 P53985 MCT MCT1 Solute carrier family 16, member 1 (monocarboxylic acid transporter 1) hrdo:gen_id_17736 TSPAN7 ENSG00000156298 TSPAN7 11854 300096 P41732 A15 CD231 DXS1692E MRX58 MXS1 TALLA-1 TM4SF2 Tetraspanin 7 hrdo:gen_id_17737 LEFTY2 ENSG00000143768 LEFTY2 3122 601877 O00292 O00292 EBAF LEFTA LEFTYA TGFB4 Left-right determination factor 2 hrdo:gen_id_17738 ADCY10 ENSG00000143199 ADCY10 21285 605205 Q96PN6 HCA2 RP1-313L4.2 SAC SACI Sacy Adenylate cyclase 10 (soluble) hrdo:gen_id_17739 DUOXA2 ENSG00000140274 DUOXA2 32698 612772 Q1HG44 Dual oxidase maturation factor 2 hrdo:gen_id_17741 TSEN54 ENSG00000182173 TSEN54 27561 608755 Q7Z6J9 SEN54 SEN54L tRNA splicing endonuclease 54 homolog (S. cerevisiae) hrdo:gen_id_17742 FASTKD2 ENSG00000118246 FASTKD2 29160 612322 Q9NYY8 KIAA0971 FAST kinase domains 2 hrdo:gen_id_17743 GLIS2 ENSG00000126603 GLIS2 29450 608539 Q9BZE0 NPHP7 GLIS family zinc finger 2 hrdo:gen_id_17744 NR5A1 ENSG00000136931 NR5A1 7983 632 184757 Q13285 Q13285 AD4BP ELP FTZ1 FTZF1 SF-1 Nuclear receptor subfamily 5, group A, member 1 hrdo:gen_id_17745 JRK ENSG00000234616 JRK 6199 603210 O75564 JH8 Jerky homolog (mouse) hrdo:gen_id_17746 ARHGEF6 ENSG00000129675 ARHGEF6 685 300267 Q15052 Q15052 Cool-2 Cool2 KIAA0006 MRX46 alpha-PIX alphaPIX Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 hrdo:gen_id_17747 ZNF81 ENSG00000197779 ZNF81 13156 314998 P51508 HFZ20 MRX45 Zinc finger protein 81 hrdo:gen_id_17748 PCDH19 ENSG00000165194 PCDH19 14270 300460 Q8TAB3 KIAA1313 Protocadherin 19 hrdo:gen_id_17749 RPS14 ENSG00000164587 RPS14 10387 130620 P62263 P62263 EMTB Ribosomal protein S14 hrdo:gen_id_17750 INS ENSG00000254647 INS 6081 176730 P01308 P01308 Insulin hrdo:gen_id_17751 TG ENSG00000042832 TG 11764 188450 Q9UNY3 AITD3 TGN Thyroglobulin hrdo:gen_id_17752 RBMY1A1 ENSG00000234414 RBMY1A1 9912 400006 Q15414 RBM1 RBM2 YRRM1 YRRM2 RNA binding motif protein, Y-linked, family 1, member A1 hrdo:gen_id_17754 LRAT ENSG00000121207 LRAT 6685 604863 O95237 O95237 Lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) hrdo:gen_id_17755 DMRT1 ENSG00000137090 DMRT1 2934 602424 Q9Y5R6 DMT1 Doublesex and mab-3 related transcription factor 1 hrdo:gen_id_17756 DMRT2 ENSG00000173253 DMRT2 2935 604935 Q9Y5R5 Doublesex and mab-3 related transcription factor 2 hrdo:gen_id_17757 PDGFB ENSG00000100311 PDGFB 8800 190040 P01127 P01127 SIS SSV Platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog) hrdo:gen_id_17758 ASPSCR1 ENSG00000169696 ASPSCR1 13825 606236 Q9BZE9 ASPL ASPS UBXD9 UBXN9 Alveolar soft part sarcoma chromosome region, candidate 1 hrdo:gen_id_17759 NUP214 ENSG00000126883 NUP214 8064 114350 P35658 P35658 CAIN CAN D9S46E N214 Nucleoporin 214kDa hrdo:gen_id_17760 DEK ENSG00000124795 DEK 2768 125264 P35659 D6S231E DEK oncogene hrdo:gen_id_17842 NDUFAF5 ENSG00000101247 C20ORF7 15899 612360 Q5TEU4 C20ORF7 Chromosome 20 open reading frame 7 dJ842G6.1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5 hrdo:gen_id_17843 C8ORF38 ENSG00000156170 C8ORF38 28625 612392 Q330K2 MGC40214 Chromosome 8 open reading frame 38 hrdo:gen_id_17844 LRTOMT ENSG00000184154 COMT2 25033 612414 Q96E66 COMT2 DFNB63 LRRC51 Leucine rich transmembrane and 0-methyltransferase domain containing hrdo:gen_id_17845 TSEN34 ENSG00000170892 TSEN34 15506 608754 Q9BSV6 LENG5 SEN34 SEN34L tRNA splicing endonuclease 34 homolog (S. cerevisiae) hrdo:gen_id_17846 TSEN2 ENSG00000154743 TSEN2 28422 608753 Q8NCE0 MGC2776 SEN2 SEN2L tRNA splicing endonuclease 2 homolog (S. cerevisiae) hrdo:gen_id_17847 TMEM70 ENSG00000175606 TMEM70 26050 612418 Q9BUB7 FLJ20533 Transmembrane protein 70 hrdo:gen_id_17877 SLC17A8 ENSG00000179520 SLC17A8 20151 607557 Q8NDX2 Q8NDX2 DFNA25 VGLUT3 Solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 hrdo:gen_id_17878 GLRX5 ENSG00000182512 GLRX5 20134 609588 Q86SX6 C14orf87 GRX5 PR01238 Glutaredoxin 5 hrdo:gen_id_17879 TBX15 ENSG00000092607 TBX15 11594 604127 Q96SF7 TBX14 T-box 15 hrdo:gen_id_17880 DNAI2 ENSG00000171595 DNAI2 18744 605483 Q9GZS0 Dynein, axonemal, intermediate chain 2 hrdo:gen_id_17881 PDE11A ENSG00000128655 PDE11A 8773 604961 Q9HCR9 Q9HCR9 Phosphodiesterase 11A hrdo:gen_id_17882 EYS ENSG00000188107 EYS 21555 612424 Q6UY05 C6orf178 C6orf179 C6orf180 EGFL10 EGFL11 RP25 Eyes shut homolog (Drosophila) hrdo:gen_id_17883 LPIN1 ENSG00000134324 LPIN1 13345 605518 Q14693 Q14693 KIAA0188 Lipin 1 hrdo:gen_id_17885 GORAB ENSG00000120370 GORAB 25676 607983 Q5T7V8 FLJ11752 GO NTKL-BP1 SCYL1BP1 Golgin, RAB6-interacting hrdo:gen_id_17886 PRICKLE1 ENSG00000139174 PRICKLE1 17019 608500 Q96MT3 FLJ31937 Prickle homolog 1 (Drosophila) hrdo:gen_id_17887 C7ORF10 ENSG00000175600 DERP13 16001 609187 Q9HAC7 DERP13 FLJ11808 ORF19 Chromosome 7 open reading frame 10 hrdo:gen_id_17888 G6PC3 ENSG00000141349 G6PC3 24861 611045 Q9BUM1 Q9BUM1 UGRP Glucose 6 phosphatase, catalytic, 3 hrdo:gen_id_17889 DCAF17 ENSG00000115827 C2orf37 25784 612515 Q5H9S7 C2orf37 FLJ13096 DDB1 and CUL4 associated factor 17 hrdo:gen_id_17890 SLC2A9 ENSG00000109667 SLC2A9 13446 606142 Q9NRM0 Q9NRM0 GLUTX Glut9 URATv1 Solute carrier family 2 (facilitated glucose transporter), member 9 hrdo:gen_id_17891 RPS7 ENSG00000171863 RPS7 10440 603658 P62081 P62081 Ribosomal protein S7 hrdo:gen_id_17892 RPL5 ENSG00000122406 RPL5 10360 603634 P46777 P46777 Ribosomal protein L5 hrdo:gen_id_17893 RPL11 ENSG00000142676 RPL11 10301 604175 P62913 P62913 Ribosomal protein L11 hrdo:gen_id_17894 RPL35A ENSG00000182899 RPL35A 10345 180468 P18077 P18077 Ribosomal protein L35a hrdo:gen_id_17895 MMADHC ENSG00000168288 MMADHC 25221 611935 Q9H3L0 C2orf25 CL25022 cblD Methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria hrdo:gen_id_17896 CAV1 ENSG00000105974 CAV1 1527 601047 Q03135 Q03135 CAV Caveolin 1, caveolae protein, 22kDa hrdo:gen_id_17897 DNAAF2 ENSG00000165506 C14orf104 20188 612517 Q9NVR5 C14orf104 FLJ10563 KTU kintoun dynein, axonemal, assembly factor 2 hrdo:gen_id_17898 EGLN1 ENSG00000135766 EGLN1 1232 606425 Q9GZT9 C1orf12 HIFPH2 PHD2 SM-20 ZMYND6 Egl nine homolog 1 (C. elegans) hrdo:gen_id_17899 TRPV4 ENSG00000111199 TRPV4 18083 510 605427 Q96Q92 OTRPC4 TRP12 VR-OAC VRL-2 VROAC Transient receptor potential cation channel, subfamily V, member 4 hrdo:gen_id_17900 MYO5B ENSG00000167306 MYO5B 7603 606540 Q9ULV0 Q9ULV0 KIAA1119 Myosin VB hrdo:gen_id_17917 AFF1 ENSG00000172493 AFF1 7135 159557 P51825 AF-4 AF4 MLLT2 PBM1 AF4/FMR2 family, member 1 hrdo:gen_id_17918 TCF3 ENSG00000071564 TCF3 11633 147141 P15923 P15923 E2A ITF1 MGC129647 MGC129648 bHLHb21 Transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47) hrdo:gen_id_17919 PBX1 ENSG00000185630 PBX1 8632 176310 P40424 Pre-B-cell leukemia homeobox 1 hrdo:gen_id_17920 STIL ENSG00000123473 STIL 10879 181590 Q15468 SIL SCL/TAL1 interrupting locus hrdo:gen_id_17921 CBFB ENSG00000067955 CBFB 1539 121360 Q13951 PEBP2B Core-binding factor, beta subunit hrdo:gen_id_17922 RUNX1T1 ENSG00000079102 RUNX1T1 1535 133435 Q06455 AML1T1 CBFA2T1 CDR ETO MTG8 ZMYND2 Runt-related transcription factor 1; translocated to, 1 (cyclin D-related) hrdo:gen_id_17963 TMEM185A ENSG00000155984 TMEM185A 17125 300483 Q8NFB2 CXorf13 FAM11A Transmembrane protein 185A hrdo:gen_id_17964 SLC29A3 ENSG00000198246 SLC29A3 23096 612373 Q9BZD2 Q9BZD2 ENT3 FLJ11160 Solute carrier family 29 (nucleoside transporters), member 3 hrdo:gen_id_17965 FGF8 ENSG00000107831 FGF8 3686 600483 P55075 P55075 AIGF Fibroblast growth factor 8 (androgen-induced) hrdo:gen_id_17966 TSFM ENSG00000123297 TSFM 12367 604723 P43897 EF-TS EF-Tsmt Ts translation elongation factor, mitochondrial hrdo:gen_id_17967 CIRH1A ENSG00000141076 CIRH1A 1983 607456 Q969X6 CIRHIN FLJ14728 KIAA1988 NAIC TEX292 Cirrhosis, autosomal recessive 1A (cirhin) hrdo:gen_id_17968 H6PD ENSG00000049239 H6PD 4795 138090 O95479 GDH Hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) hrdo:gen_id_17969 HSD11B1 ENSG00000117594 HSD11B1 5208 600713 P28845 P28845 HSD11 HSD11B SDR26C1 Hydroxysteroid (11-beta) dehydrogenase 1 hrdo:gen_id_17970 TSPYL1 ENSG00000189241 TSPYL1 12382 604714 Q9H0U9 TSPYL TSPY-like 1 hrdo:gen_id_17971 MAT1A ENSG00000151224 MAT1A 6903 610550 Q00266 Q00266 MAT MATA1 SAMS SAMS1 Methionine adenosyltransferase I, alpha hrdo:gen_id_17972 TMPRSS15 ENSG00000154646 PRSS7 9490 606635 P98073 ENTK MGC133046 PRSS7 Transmembrane protease, serine 15 hrdo:gen_id_17973 ZNF750 ENSG00000141579 ZNF750 25843 610226 Q32MQ0 FLJ13841 Zfp750 Zinc finger protein 750 hrdo:gen_id_17974 AFP ENSG00000081051 AFP 317 104150 P02771 FETA HPAFP Alpha-fetoprotein hrdo:gen_id_17975 CYCS ENSG00000172115 CYCS 19986 123970 P99999 P99999 HCS Cytochrome c, somatic hrdo:gen_id_17976 SLC36A2 ENSG00000186335 SLC36A2 18762 608331 Q495M3 Q495M3 PAT2 TRAMD1 tramdorin Solute carrier family 36 (proton/amino acid symporter), member 2 hrdo:gen_id_17977 SLC6A20 ENSG00000163817 SLC6A20 30927 605616 Q9NP91 Q9NP91 XT3 Xtrp3 Solute carrier family 6 (proline IMINO transporter), member 20 hrdo:gen_id_17978 SLC6A18 ENSG00000164363 SLC6A18 26441 610300 Q96N87 Q96N87 FLJ31236 Xtrp2 Solute carrier family 6, member 18 hrdo:gen_id_17979 AMER1 ENSG00000184675 FAM123B 26837 300647 Q5JTC6 Q5JTC6 Adenomatous polyposis coli membrane recruitment 1 FAM123B FLJ39827 Family with sequence similarity 123B RP11-403E24.2 WTX Wilms Tumor on the X APC membrane recruitment protein 1 hrdo:gen_id_17980 AK2 ENSG00000004455 AK2 362 103020 Q8TCY3 Q8TCY3 Adenylate kinase 2 hrdo:gen_id_17981 RANBP2 ENSG00000153201 RANBP2 9848 601181 P49792 P49792 NUP358 RAN binding protein 2 hrdo:gen_id_17982 DDR2 ENSG00000162733 DDR2 2731 191311 Q16832 NTRKR3 TKT TYRO10 Discoidin domain receptor tyrosine kinase 2 hrdo:gen_id_17983 COG1 ENSG00000166685 COG1 6545 606973 Q8WTW3 KIAA1381 LDLB Component of oligomeric golgi complex 1 hrdo:gen_id_17984 LMBRD1 ENSG00000168216 LMBRD1 23038 612625 Q9NUN5 C6orf209 FLJ11240 bA810I22.1 cblF LMBR1 domain containing 1 hrdo:gen_id_17986 IDH3B ENSG00000101365 IDH3B 5385 604526 O43837 O43837 Isocitrate dehydrogenase 3 (NAD+) beta hrdo:gen_id_18003 RSPH9 ENSG00000172426 RSPH9 21057 612648 Q9H1X1 C6orf206 FLJ30845 MRPS18AL1 Radial spoke head 9 homolog (Chlamydomonas) hrdo:gen_id_18004 RSPH4A ENSG00000111834 RSPH4A 21558 612647 Q5TD94 FLJ37974 RSHL3 dJ412I7.1 Radial spoke head 4 homolog A (Chlamydomonas) hrdo:gen_id_18005 AP1S1 ENSG00000106367 AP1S1 559 603531 P61966 P61966 AP19 CLAPS1 SIGMA1A WUGSC:H_DJ0747G18.2 Adaptor-related protein complex 1, sigma 1 subunit hrdo:gen_id_18006 FA2H ENSG00000103089 FA2H 21197 611026 Q7L5A8 FAAH FAXDC1 FLJ25287 SPG35 fatty acid hydroxylase Fatty acid 2-hydroxylase hrdo:gen_id_18056 ADAMTSL4 ENSG00000143382 ADAMTSL4 19706 610113 Q6UY14 DKFZP434K1772 TSRC1 ADAMTS-like 4 hrdo:gen_id_18057 CNNM4 ENSG00000158158 CNNM4 105 607805 Q6P4Q7 ACDP4 KIAA1592 Cyclin M4 hrdo:gen_id_18058 SPINT2 ENSG00000167642 SPINT2 11247 605124 O43291 HAI-2 Kop Serine peptidase inhibitor, Kunitz type, 2 hrdo:gen_id_18059 FERMT3 ENSG00000149781 FERMT3 23151 607901 Q86UX7 KIND3 MGC10966 MIG-2 MIG2B UNC112C URP2 Fermitin family homolog 3 (Drosophila) hrdo:gen_id_18060 TAC3 ENSG00000166863 TAC3 11521 162330 Q9UHF0 Q9UHF0 NKB NKNB ZNEUROK1 Tachykinin 3 hrdo:gen_id_18061 TACR3 ENSG00000169836 TACR3 11528 362 162332 P29371 P29371 NK3R Tachykinin receptor 3 hrdo:gen_id_18062 THAP1 ENSG00000131931 THAP1 20856 609520 Q9NVV9 4833431A01Rik DYT6 FLJ10477 THAP domain containing, apoptosis associated protein 1 hrdo:gen_id_18063 SPATA7 ENSG00000042317 SPATA7 20423 609868 Q9P0W8 HSD3 Spermatogenesis associated 7 hrdo:gen_id_18064 AUNX1 31916 300614 Auditory neuropathy, X-linked recessive 1 hrdo:gen_id_18076 ARL13B ENSG00000169379 ARL13B 25419 608922 Q3SXY8 ARL2L1 DKFZp761H079 JBTS8 ADP-ribosylation factor-like 13B hrdo:gen_id_18077 NTNG1 ENSG00000162631 NTNG1 23319 608818 Q9Y2I2 KIAA0976 Lmnt1 Netrin G1 hrdo:gen_id_18078 ST14 ENSG00000149418 ST14 11344 606797 Q9Y5Y6 HAI MT-SP1 PRSS14 SNC19 Suppression of tumorigenicity 14 (colon carcinoma) hrdo:gen_id_18079 KL ENSG00000133116 KL 6344 604824 Q9UEF7 Q9UEF7 Klotho hrdo:gen_id_18080 BMP2 ENSG00000125845 BMP2 1069 112261 P12643 P12643 BMP2A Bone morphogenetic protein 2 hrdo:gen_id_18081 CORO1A ENSG00000102879 CORO1A 2252 605000 P31146 HCORO1 coronin-1 p57 Coronin, actin binding protein, 1A hrdo:gen_id_18108 NOBOX ENSG00000106410 NOBOX 22448 610934 O60393 OG2 Og2x NOBOX oogenesis homeobox hrdo:gen_id_18120 RTN2 RTN2 10468 603183 O75298 NSP-like protein 1 NSP2 NSPL1 Neuroendocrine-specific protein-like 1 SPG12 Spastic paraplegia 12 (autosomal dominant) Reticulon 2 hrdo:gen_id_18121 SPG19 16706 Spastic paraplegia 19 (autosomal dominant) hrdo:gen_id_18122 SLC33A1 ENSG00000169359 SLC33A1 95 603690 O00400 O00400 ACATN SPG42 Solute carrier family 33 (acetyl-CoA transporter), member 1 hrdo:gen_id_18124 SPG9 11239 Spastic paraplegia 9 (autosomal dominant) hrdo:gen_id_18127 SPG29 30161 Spastic paraplegia 29 (autosomal dominant) hrdo:gen_id_18130 SPG37 33472 Spastic paraplegia 37 (autosomal dominant) hrdo:gen_id_18132 SPG38 33485 Spastic paraplegia 38 (autosomal dominant, Silver syndrome) hrdo:gen_id_18139 SPG24 22993 Spastic paraplegia 24 (autosomal recessive) hrdo:gen_id_18140 DDHD1 DDHD1 19714 614603 Q8NEL9 KIAA1705 PA-PLA1 Phosphatidic acid-preferring phospholipase A1 SPG28 Spastic paraplegia 28 (autosomal recessive) DDHD domain containing 1 hrdo:gen_id_18144 SPG14 13730 Spastic paraplegia 14 (autosomal recessive) hrdo:gen_id_18145 SPG23 21340 Spastic paraplegia 23 (autosomal recessive) hrdo:gen_id_18147 SPG25 25855 Spastic paraplegia 25 (autosomal recessive, with disc herniation) hrdo:gen_id_18148 SPG26 22494 Spastic paraplegia 26 hrdo:gen_id_18150 SPG27 26071 Spastic paraplegia 27 (autosomal recessive) hrdo:gen_id_18151 SPG32 32314 Spastic paraplegia 32 (autosomal recessive) hrdo:gen_id_18153 SPG16 14260 Spastic paraplegia 16 (complicated, X-linked recessive) hrdo:gen_id_18154 SPG34 32944 Spastic paraplegia 34 (autosomal dominant) hrdo:gen_id_18162 FBXO7 ENSG00000100225 FBXO7 13586 605648 Q9Y3I1 FBX7 Fbx PARK15 F-box protein 7 hrdo:gen_id_18163 EOMES ENSG00000163508 EOMES 3372 604615 O95936 TBR2 Eomesodermin homolog (Xenopus laevis) hrdo:gen_id_18164 SECISBP2 ENSG00000187742 SECISBP2 30972 607693 Q96T21 SECIS binding protein 2 hrdo:gen_id_18165 SPATA16 ENSG00000144962 SPATA16 29935 609856 Q0R2U2 NYD-SP12 Spermatogenesis associated 16 hrdo:gen_id_18166 ST3GAL5 ENSG00000115525 ST3GAL5 10872 604402 Q9UNP4 SIATGM3S ST3GalV ST3 beta-galactoside alpha-2,3-sialyltransferase 5 hrdo:gen_id_18167 KRT4 ENSG00000170477 KRT4 6441 123940 P19013 CK4 CYK4 K4 Keratin 4 hrdo:gen_id_18168 KRT13 ENSG00000171401 KRT13 6415 148065 P13646 CK13 K13 MGC161462 MGC3781 Keratin 13 hrdo:gen_id_18194 MCEE ENSG00000124370 MCEE 16732 608419 Q96PE7 Q96PE7 GLOD2 Methylmalonyl CoA epimerase hrdo:gen_id_18228 CHN1 ENSG00000128656 CHN1 1943 118423 P15882 P15882 ARHGAP2 CHN DURS2 RhoGAP2 n-chimerin Chimerin (chimaerin) 1 hrdo:gen_id_18346 FOXN1 ENSG00000109101 FOXN1 12765 600838 O15353 RONU WHN Forkhead box N1 hrdo:gen_id_18347 MOGS ENSG00000115275 GCS1 24862 601336 Q13724 Q13724 GCS1 Mannosyl-oligosaccharide glucosidase hrdo:gen_id_18348 DPCR1 ENSG00000232308 DPCR1 21666 604809 Q3MIW9 PBLT bCX105N19.6 Diffuse panbronchiolitis critical region 1 hrdo:gen_id_18349 CEBPE ENSG00000092067 CEBPE 1836 600749 Q15744 CRP1 CCAAT/enhancer binding protein (C/EBP), epsilon hrdo:gen_id_18350 TALDO1 ENSG00000177156 TALDO1 11559 602063 P37837 P37837 Transaldolase 1 hrdo:gen_id_18351 ADAMTSL2 ENSG00000197859 ADAMTSL2 14631 612277 Q86TH1 KIAA0605 ADAMTS-like 2 hrdo:gen_id_18352 NDUFA11 ENSG00000174886 NDUFA11 20371 612638 Q86Y39 Q86Y39 B14.7 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa hrdo:gen_id_18353 EPAS1 ENSG00000116016 EPAS1 3374 603349 Q99814 HIF2A HLF MOP2 PASD2 bHLHe73 Endothelial PAS domain protein 1 hrdo:gen_id_18354 MT-TL2 MT-TL2 7491 590055 MTTL2 TRNL2 Mitochondrially encoded tRNA leucine 2 (CUN) hrdo:gen_id_18355 NUP155 ENSG00000113569 NUP155 8063 606694 O75694 O75694 KIAA0791 N155 Nucleoporin 155kDa hrdo:gen_id_18356 WNT10B ENSG00000169884 WNT10B 12775 601906 O00744 O00744 SHFM6 WNT-12 Wingless-type MMTV integration site family, member 10B hrdo:gen_id_18357 DYNC2H1 ENSG00000187240 DYNC2H1 2962 603297 Q8N977 DHC1b DHC2 DNCH2 DYH1B hdhc11 Dynein, cytoplasmic 2, heavy chain 1 hrdo:gen_id_18360 MT-TG MT-TG 7486 590035 MTTG trnG Mitochondrially encoded tRNA glycine hrdo:gen_id_18361 SYNGAP1 ENSG00000197283 SYNGAP1 11497 603384 Q96PV0 KIAA1938 RASA5 SYNGAP Synaptic Ras GTPase activating protein 1 homolog (rat) hrdo:gen_id_18362 APOA2 ENSG00000158874 APOA2 601 107670 P02652 P02652 Apolipoprotein A-II hrdo:gen_id_18363 LTBP3 ENSG00000168056 LTBP3 6716 602090 Q9NS15 LTBP2 Latent transforming growth factor beta binding protein 3 hrdo:gen_id_18364 MATR3 ENSG00000015479 MATR3 6912 164015 P43243 KIAA0723 MGC9105 Matrin 3 hrdo:gen_id_18365 MBTPS2 ENSG00000012174 MBTPS2 15455 300294 O43462 O43462 S2P Membrane-bound transcription factor peptidase, site 2 hrdo:gen_id_18366 HOXD10 ENSG00000128710 HOXD10 5133 142984 P28358 HOX4 HOX4D Homeobox D10 hrdo:gen_id_18367 VMA21 ENSG00000160131 VMA21 22082 310440 Q3ZAQ7 MEAX XMEA VMA21 vacuolar H+-ATPase homolog (S. cerevisiae) hrdo:gen_id_18368 ALX3 ENSG00000156150 ALX3 449 606014 O95076 ALX homeobox 3 hrdo:gen_id_18369 MIR96 ENSG00000199158 31648 611606 DFNA50 MIRN96 hsa-mir-96 MicroRNA 96 hrdo:gen_id_18370 SMAD9 ENSG00000120693 SMAD9 6774 603295 O15198 O15198 MADH6 MADH9 SMAD8 SMAD family member 9 hrdo:gen_id_18371 KCNJ10 ENSG00000177807 KCNJ10 6256 438 602208 P78508 P78508 Kir1.2 Kir4.1 Potassium inwardly-rectifying channel, subfamily J, member 10 hrdo:gen_id_18372 LTBP2 ENSG00000119681 LTBP2 6715 602091 Q14767 C14orf141 LTBP3 Latent transforming growth factor beta binding protein 2 hrdo:gen_id_18417 GABRA3 ENSG00000011677 GABRA3 4077 406 305660 P34903 P34903 Gamma-aminobutyric acid (GABA) A receptor, alpha 3 hrdo:gen_id_18418 CDH15 ENSG00000129910 CDH15 1754 114019 P55291 P55291 CDH14 CDH3 Cadherin 15, type 1, M-cadherin (myotubule) hrdo:gen_id_18419 KIRREL3 ENSG00000149571 KIRREL3 23204 607761 Q8IZU9 Q8IZU9 KIAA1867 KIRRE NEPH2 Kin of IRRE like 3 (Drosophila) hrdo:gen_id_18423 SLC25A38 ENSG00000144659 SLC25A38 26054 610819 Q96DW6 FLJ20551 Solute carrier family 25, member 38 hrdo:gen_id_18424 SERPINA3 ENSG00000196136 SERPINA3 16 107280 Q6NSC9 AACT ACT alpha-1-antichymotrypsin Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 hrdo:gen_id_18425 AIP ENSG00000110711 AIP 358 605555 O00170 ARA9 FKBP16 XAP2 Aryl hydrocarbon receptor interacting protein hrdo:gen_id_18426 CDKN1B ENSG00000111276 CDKN1B 1785 600778 P46527 P46527 KIP1 P27KIP1 Cyclin-dependent kinase inhibitor 1B (p27, Kip1) hrdo:gen_id_18427 PAX4 ENSG00000106331 PAX4 8618 167413 O43316 O43316 Paired box 4 hrdo:gen_id_18428 EGF ENSG00000138798 EGF 3229 131530 P01133 P01133 Epidermal growth factor (beta-urogastrone) hrdo:gen_id_18429 NRXN1 ENSG00000179915 NRXN1 8008 600565 Q9ULB1 Neurexin 1 hrdo:gen_id_18430 BARD1 ENSG00000138376 BARD1 952 601593 Q99728 BRCA1 associated RING domain 1 hrdo:gen_id_18431 GUCA1B ENSG00000112599 GUCA1B 4679 602275 Q9UMX6 GCAP2 Guanylate cyclase activator 1B (retina) hrdo:gen_id_18432 IYD ENSG00000009765 IYD 21071 612025 Q6PHW0 Q6PHW0 C6orf71 DEHAL1 dJ422F24.1 Iodotyrosine deiodinase hrdo:gen_id_18433 GPIHBP1 ENSG00000182851 GPIHBP1 24945 612757 Q8IV16 GPI-HBP1 LOC338328 Glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 hrdo:gen_id_18434 AKT2 ENSG00000105221 AKT2 392 164731 P31751 P31751 V-akt murine thymoma viral oncogene homolog 2 hrdo:gen_id_18435 MYD88 ENSG00000172936 MYD88 7562 602170 Q99836 Q99836 Myeloid differentiation primary response gene (88) hrdo:gen_id_18436 BIRC3 ENSG00000023445 BIRC3 591 601721 Q13489 Q13489 API2 MALT2 MIHC RNF49 cIAP2 hiap-1 Baculoviral IAP repeat-containing 3 hrdo:gen_id_18437 IGH@ IGH@ 5477 Q6P089 IGH IGHDY1 Immunoglobulin heavy locus hrdo:gen_id_18438 FOXP1 ENSG00000114861 FOXP1 3823 605515 Q9H334 12CC4 HSPC215 QRF1 hFKH1B Forkhead box P1 hrdo:gen_id_18439 GHSR ENSG00000121853 GHSR 4267 246 601898 Q92847 Q92847 Growth hormone secretagogue receptor hrdo:gen_id_18440 SERPINF2 ENSG00000167711 SERPINF2 9075 613168 P08697 P08697 A2AP AAP ALPHA-2-PI API PLI Serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 hrdo:gen_id_18441 CD3G ENSG00000160654 CD3G 1675 186740 P09693 P09693 CD3g molecule, gamma (CD3-TCR complex) hrdo:gen_id_18442 SERPINA6 ENSG00000170099 SERPINA6 1540 122500 P08185 CBG transcortin Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 hrdo:gen_id_18443 ORAI1 ENSG00000182500 ORAI1 25896 610277 Q96D31 Q96D31 CRACM1 FLJ14466 TMEM142A ORAI calcium release-activated calcium modulator 1 hrdo:gen_id_18444 STIM1 ENSG00000167323 STIM1 11386 605921 Q13586 Q13586 D11S4896E GOK Stromal interaction molecule 1 hrdo:gen_id_18452 COX4I2 ENSG00000131055 COX4I2 16232 607976 Q96KJ9 COX4B COX4L2 COXIV-2 dJ857M17.2 Cytochrome c oxidase subunit IV isoform 2 (lung) hrdo:gen_id_18453 BAG3 ENSG00000151929 BAG3 939 603883 O95817 BCL2-associated athanogene 3 hrdo:gen_id_18454 ICK ENSG00000112144 ICK 21219 612325 Q9UPZ9 KIAA0936 LCK2 MGC46090 MRK Intestinal cell (MAK-like) kinase hrdo:gen_id_18455 PITX1 ENSG00000069011 PITX1 9004 602149 P78337 BFT POTX PTX1 Paired-like homeodomain 1 hrdo:gen_id_18456 SDHAF1 ENSG00000205138 SDHAF1 33867 612848 A6NFY7 Succinate dehydrogenase complex assembly factor 1 hrdo:gen_id_18457 KITLG ENSG00000049130 KITLG 6343 184745 P21583 P21583 KL-1 Kitl MGF SCF SF KIT ligand hrdo:gen_id_18458 ADAM9 ENSG00000168615 ADAM9 216 602713 Q13443 KIAA0021 MCMP MDC9 Mltng ADAM metallopeptidase domain 9 (meltrin gamma) hrdo:gen_id_18459 IFRD1 ENSG00000006652 IFRD1 5456 603502 O00458 PC4 TIS7 Interferon-related developmental regulator 1 hrdo:gen_id_18460 COQ9 ENSG00000088682 COQ9 25302 612837 O75208 C16orf49 DKFZP434K046 Coenzyme Q9 homolog (S. cerevisiae) hrdo:gen_id_18461 NDUFAF3 ENSG00000178057 NDUFAF3 29918 612911 Q9BU61 2P1 C3orf60 DKFZP564J0123 E3-3 MGC10527 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3 hrdo:gen_id_18462 TUBB2B ENSG00000137285 TUBB2B 30829 612850 Q9BVA1 Q9BVA1 DKFZp566F223 MGC8685 bA506K6.1 Tubulin, beta 2B hrdo:gen_id_18463 OBSL1 ENSG00000124006 OBSL1 29092 610991 O75147 KIAA0657 Obscurin-like 1 hrdo:gen_id_18464 KLHL7 ENSG00000122550 KLHL7 15646 611119 Q8IXQ5 KLHL6 RP42 SBBI26 Kelch-like 7 (Drosophila) hrdo:gen_id_18465 GPC6 ENSG00000183098 GPC6 4454 604404 Q9Y625 Glypican 6 hrdo:gen_id_18466 EMG1 ENSG00000126749 EMG1 16912 611531 Q92979 C2F Grcc2f NEP1 EMG1 nucleolar protein homolog (S. cerevisiae) hrdo:gen_id_18467 RNASET2 ENSG00000026297 RNASET2 21686 612944 O00584 FLJ10907 RNASE6PL bA514O12.3 Ribonuclease T2 hrdo:gen_id_18468 TACO1 ENSG00000136463 CCDC44 24316 612958 Q9BSH4 CCDC44 Translational activator of mitochondrially encoded cytochrome c oxidase I hrdo:gen_id_18469 SAMHD1 ENSG00000101347 SAMHD1 15925 606754 Q9Y3Z3 AGS5 HDDC1 MOP-5 Mg11 SBBI88 SAM domain and HD domain 1 hrdo:gen_id_18470 FGF9 ENSG00000102678 FGF9 3687 600921 P31371 P31371 Fibroblast growth factor 9 (glia-activating factor) hrdo:gen_id_18471 HGF ENSG00000019991 HGF 4893 142409 P14210 P14210 F-TCF HGFB HPTA SF 'Hepatocyte growth factor (hepapoietin A; scatter factor)' hrdo:gen_id_18472 PYCR1 ENSG00000183010 PYCR1 9721 179035 P32322 P32322 P5C Pyrroline-5-carboxylate reductase 1 hrdo:gen_id_18482 ATF1 ENSG00000123268 ATF1 783 123803 P18846 P18846 TREB36 Activating transcription factor 1 hrdo:gen_id_18485 RAC2 ENSG00000128340 RAC2 9802 602049 P15153 P15153 EN-7 Ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) hrdo:gen_id_18486 NCF4 ENSG00000100365 NCF4 7662 601488 Q15080 Q15080 SH3PXD4 p40phox Neutrophil cytosolic factor 4, 40kDa hrdo:gen_id_18487 BCMO1 ENSG00000135697 BCMO1 13815 605748 Q9HAY6 Q9HAY6 BCDO BCDO1 BCMO FLJ10730 Beta-carotene 15,15'-monooxygenase 1 hrdo:gen_id_18488 NPPA ENSG00000175206 NPPA 7939 108780 P01160 P01160 ANP PND Natriuretic peptide precursor A hrdo:gen_id_18489 GRIK2 ENSG00000164418 GRIK2 4580 451 138244 Q13002 Q13002 GLUR6 Glutamate receptor, ionotropic, kainate 2 hrdo:gen_id_18490 NHP2 ENSG00000145912 NHP2 14377 606470 Q9NX24 Q9NX24 FLJ20479 NOLA2 NHP2 ribonucleoprotein homolog (yeast) hrdo:gen_id_18491 PDSS2 ENSG00000164494 PDSS2 23041 610564 Q86YH6 C6orf210 bA59I9.3 Prenyl (decaprenyl) diphosphate synthase, subunit 2 hrdo:gen_id_18492 SEC23B ENSG00000101310 SEC23B 10702 610512 Q15437 CDA-II CDAII CDAN2 HEMPAS Sec23 homolog B (S. cerevisiae) hrdo:gen_id_18493 MT-TP MT-TP 7494 590075 MTTP trnP Mitochondrially encoded tRNA proline hrdo:gen_id_18552 ZFP57 ENSG00000204644 ZFP57 18791 612192 Q9NU63 C6orf40 ZNF698 bA145L22 bA145L22.2 Zinc finger protein 57 homolog (mouse) hrdo:gen_id_18599 SLC27A4 ENSG00000167114 SLC27A4 10998 604194 Q6P1M0 Q6P1M0 ACSVL4 FATP4 Solute carrier family 27 (fatty acid transporter), member 4 hrdo:gen_id_18600 PDE6C ENSG00000095464 PDE6C 8787 600827 P51160 PDEA2 Phosphodiesterase 6C, cGMP-specific, cone, alpha prime hrdo:gen_id_18601 MMP9 ENSG00000100985 MMP9 7176 120361 P14780 P14780 CLG4B Matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) hrdo:gen_id_18602 VRK1 ENSG00000100749 VRK1 12718 602168 Q99986 Vaccinia related kinase 1 hrdo:gen_id_18603 INPP5E ENSG00000148384 INPP5E 21474 613037 Q9NRR6 CORS1 JBTS1 PPI5PIV Inositol polyphosphate-5-phosphatase, 72 kDa hrdo:gen_id_18647 SYNE2 ENSG00000054654 SYNE2 17084 608442 Q8WXH0 Q8WXH0 DKFZP434H2235 KIAA1011 NUA NUANCE Nesprin-2 SYNE-2 Spectrin repeat containing, nuclear envelope 2 hrdo:gen_id_18648 SDHAF2 ENSG00000167985 SDHAF2 26034 613019 Q9NX18 C11orf79 FLJ20487 PGL2 SDH5 Succinate dehydrogenase complex assembly factor 2 hrdo:gen_id_18649 DICER1 ENSG00000100697 DICER1 17098 606241 Q9UPY3 Q9UPY3 Dicer HERNA K12H4.8-LIKE KIAA0928 Dicer 1, ribonuclease type III hrdo:gen_id_18650 TRPM4 ENSG00000130529 TRPM4 17993 496 606936 Q8TD43 FLJ20041 Transient receptor potential cation channel, subfamily M, member 4 hrdo:gen_id_18651 HUWE1 ENSG00000086758 HUWE1 30892 300697 Q7Z6Z7 Q7Z6Z7 Ib772 KIAA0312 UREB1 HECT, UBA and WWE domain containing 1 hrdo:gen_id_18652 CREB3L2 ENSG00000182158 CREB3L2 23720 608834 Q70SY1 BBF2H7 TCAG_1951439 cAMP responsive element binding protein 3-like 2 hrdo:gen_id_18653 CREB3L1 ENSG00000157613 CREB3L1 18856 Q96BA8 OASIS cAMP responsive element binding protein 3-like 1 hrdo:gen_id_18657 PRPH ENSG00000135406 PRPH 9461 170710 P41219 NEF4 PRPH1 Peripherin hrdo:gen_id_18658 EPHA2 ENSG00000142627 EPHA2 3386 176946 P29317 ECK EPH receptor A2 hrdo:gen_id_18659 CSF2RA ENSG00000198223 CSF2RA 2435 306250 P15509 P15509 CD116 CSF2R Colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) hrdo:gen_id_18660 GDF6 ENSG00000156466 GDF6 4221 601147 Q6KF10 BMP13 Growth differentiation factor 6 hrdo:gen_id_18661 NEK8 ENSG00000160602 NEK8 13387 609799 Q86SG6 NPHP9 NIMA (never in mitosis gene a)- related kinase 8 hrdo:gen_id_18703 HLA-DQB1 ENSG00000179344 HLA-DQB1 4944 604305 P03992 P03992 CELIAC1 HLA-DQB IDDM1 Major histocompatibility complex, class II, DQ beta 1 hrdo:gen_id_18720 SCA21 17172 607454 Spinocerebellar ataxia 21 hrdo:gen_id_18722 PDYN ENSG00000101327 PDYN 8820 131340 P01213 P01213 ADCA PENKB SCA23 Prodynorphin hrdo:gen_id_18723 AFG3L2 ENSG00000141385 AFG3L2 315 604581 Q9Y4W6 SCA28 AFG3 ATPase family gene 3-like 2 (yeast) hrdo:gen_id_18724 SCA20 17204 608687 Spinocerebellar ataxia 20 hrdo:gen_id_18725 SCA25 20684 608703 Spinocerebellar ataxia 25 hrdo:gen_id_18726 SCA26 31097 609306 Spinocerebellar ataxia 26 hrdo:gen_id_18728 SCA30 33445 Spinocerebellar ataxia 30 hrdo:gen_id_18729 SERPINA7 ENSG00000123561 SERPINA7 11583 314200 P05543 TBG thyroxin-binding globulin Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 hrdo:gen_id_18730 CNTN1 ENSG00000018236 CNTN1 2171 600016 Q12860 Q12860 F3 GP135 Contactin 1 hrdo:gen_id_18731 CYP7A1 ENSG00000167910 CYP7A1 2651 118455 P22680 P22680 CYP7 Cytochrome P450, family 7, subfamily A, polypeptide 1 hrdo:gen_id_18732 FOXP2 ENSG00000128573 FOXP2 13875 605317 O15409 CAGH44 SPCH1 TNRC10 Forkhead box P2 hrdo:gen_id_18733 SLC1A3 ENSG00000079215 SLC1A3 10941 600111 P43003 P43003 EA6 EAAT1 GLAST Solute carrier family 1 (glial high affinity glutamate transporter), member 3 hrdo:gen_id_18734 PLEKHM1 ENSG00000225190 PLEKHM1 29017 611466 Q9Y4G2 KIAA0356 Pleckstrin homology domain containing, family M (with RUN domain) member 1 hrdo:gen_id_18735 IL1RN ENSG00000136689 IL1RN 6000 147679 P18510 P18510 ICIL-1RA IL1F3 IL1RA IRAP Interleukin 1 receptor antagonist hrdo:gen_id_18736 FOXF1 ENSG00000103241 FOXF1 3809 601089 Q12946 FKHL5 FREAC1 Forkhead box F1 hrdo:gen_id_18737 UROC1 ENSG00000159650 UROC1 26444 613012 Q96N76 Q96N76 FLJ31300 HMFN0320 Urocanase domain containing 1 hrdo:gen_id_18738 AP4M1 ENSG00000221838 AP4M1 574 602296 O00189 MU-4 MU-ARP2 Adaptor-related protein complex 4, mu 1 subunit hrdo:gen_id_18739 FTO ENSG00000140718 FTO 24678 610966 Q9C0B1 KIAA1752 MGC5149 Fat mass and obesity associated hrdo:gen_id_18740 PRKRA ENSG00000180228 PRKRA 9438 603424 O75569 DYT16 HSD14 PACT RAX Protein kinase, interferon-inducible double stranded RNA dependent activator hrdo:gen_id_18826 PPIB ENSG00000166794 PPIB 9255 123841 P23284 CYPB Peptidylprolyl isomerase B (cyclophilin B) hrdo:gen_id_18890 FAM134B ENSG00000154153 FAM134B 25964 613114 Q9H6L5 FLJ20152 Family with sequence similarity 134, member B hrdo:gen_id_18891 CANT1 ENSG00000171302 CANT1 19721 613165 Q8WVQ1 SCAN-1 SHAPY Calcium activated nucleotidase 1 hrdo:gen_id_18892 RBM20 ENSG00000203867 RBM20 27424 613171 Q5T481 RNA binding motif protein 20 hrdo:gen_id_18893 LRRC50 ENSG00000154099 LRRC50 30539 613190 Q8NEP3 FLJ25330 ODA7 Leucine rich repeat containing 50 hrdo:gen_id_18894 TRAPPC9 ENSG00000167632 TRAPPC9 30832 611966 Q96Q05 IKBKBBP KIAA1882 NIBP T1 TRS120 Trafficking protein particle complex 9 hrdo:gen_id_18895 SNTA1 ENSG00000101400 SNTA1 11167 601017 Q13424 SNT1 TACIP1 Syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component) hrdo:gen_id_18896 HLA-A ENSG00000206503 HLA-A 4931 142800 P16189 Major histocompatibility complex, class I, A hrdo:gen_id_18900 GPD1L ENSG00000152642 GPD1L 28956 611778 Q8N335 Q8N335 KIAA0089 Glycerol-3-phosphate dehydrogenase 1-like hrdo:gen_id_18901 SCN3B ENSG00000166257 SCN3B 20665 608214 Q9NY72 Q9NY72 HSA243396 Sodium channel, voltage-gated, type III, beta hrdo:gen_id_18918 IL31RA ENSG00000164509 IL31RA 18969 609510 Q8NI17 CRL CRL3 GLM-R Glmr IL-31RA Interleukin 31 receptor A hrdo:gen_id_18919 CCBE1 ENSG00000183287 CCBE1 29426 612753 Q6UXH8 FLJ30681 KIAA1983 Collagen and calcium binding EGF domains 1 hrdo:gen_id_18920 SHOC2 ENSG00000108061 SHOC2 15454 602775 Q9UQ13 KIAA0862 SOC-2 SOC2 SUR-8 SUR8 Soc-2 suppressor of clear homolog (C. elegans) hrdo:gen_id_18921 MC3R ENSG00000124089 MC3R 6931 284 155540 P41968 P41968 MC3 Melanocortin 3 receptor hrdo:gen_id_18922 SYCP3 ENSG00000139351 SYCP3 18130 604759 Q8IZU3 Q8IZU3 Synaptonemal complex protein 3 hrdo:gen_id_18923 HRG ENSG00000113905 HRG 5181 142640 P04196 P04196 HPRG HRGP Histidine-rich glycoprotein hrdo:gen_id_18924 FREM1 ENSG00000164946 FREM1 23399 608944 Q5H8C1 C9orf143 C9orf145 C9orf154 DKFZp686M16108 FLJ25461 FRAS1 related extracellular matrix 1 hrdo:gen_id_18925 RIN2 ENSG00000132669 RIN2 18750 610222 Q8WYP3 RASSF4 Ras and Rab interactor 2 hrdo:gen_id_18926 FOLR1 ENSG00000110195 FOLR1 3791 136430 P15328 FOLR Folate receptor 1 (adult) hrdo:gen_id_18927 DOCK8 ENSG00000107099 DOCK8 19191 611432 Q8NF50 Q8NF50 FLJ00026 FLJ00152 FLJ00346 ZIR8 Dedicator of cytokinesis 8 hrdo:gen_id_18928 DSC3 ENSG00000134762 DSC3 3037 600271 Q14574 CDHF3 DSC DSC1 DSC2 Desmocollin 3 hrdo:gen_id_18951 C1QA ENSG00000173372 C1QA 1241 120550 P02745 P02745 Complement component 1, q subcomponent, A chain hrdo:gen_id_18952 C1QB ENSG00000173369 C1QB 1242 120570 P02746 P02746 Complement component 1, q subcomponent, B chain hrdo:gen_id_18953 C1QC ENSG00000159189 C1QC 1245 120575 P02747 P02747 C1QG Complement component 1, q subcomponent, C chain hrdo:gen_id_18954 C1S ENSG00000182326 C1S 1247 120580 P09871 P09871 Complement component 1, s subcomponent hrdo:gen_id_18955 CD59 ENSG00000085063 CD59 1689 107271 P13987 MIC11 MIN1 MIN2 MIN3 MSK21 CD59 molecule, complement regulatory protein hrdo:gen_id_18956 CD79A ENSG00000105369 CD79A 1698 112205 P11912 P11912 IGA MB-1 CD79a molecule, immunoglobulin-associated alpha hrdo:gen_id_18957 CD8A ENSG00000153563 CD8A 1706 186910 P01732 P01732 CD8 CD8a molecule hrdo:gen_id_18958 CFD ENSG00000197766 CFD 2771 134350 P00746 P00746 ADN DF PFD Complement factor D (adipsin) hrdo:gen_id_18959 IGHG2 ENSG00000211893 IGHG2 5526 147110 P01859 P01859 Immunoglobulin heavy constant gamma 2 (G2m marker) hrdo:gen_id_18960 LMNB2 ENSG00000176619 LMNB2 6638 150341 Q03252 LMN2 Lamin B2 hrdo:gen_id_18961 TMEM216 ENSG00000187049 TMEM216 25018 613277 Q9P0N5 CORS2 HSPC244 JBTS2 MGC13379 MKS2 Transmembrane protein 216 hrdo:gen_id_18962 NRAS ENSG00000213281 NRAS 7989 164790 P01111 P01111 Neuroblastoma RAS viral (v-ras) oncogene homolog hrdo:gen_id_18963 SNRNP200 ENSG00000144028 SNRNP200 30859 601664 O75643 O75643 ASCC3L1 BRR2 HELIC2 KIAA0788 U5-200KD Small nuclear ribonucleoprotein 200kDa (U5) hrdo:gen_id_18964 LOXHD1 ENSG00000167210 LOXHD1 26521 613072 Q8IVV2 DFNB77 FLJ32670 LH2D1 Lipoxygenase homology domains 1 hrdo:gen_id_18967 PLAU ENSG00000122861 PLAU 9052 191840 P00749 P00749 UPA Plasminogen activator, urokinase hrdo:gen_id_18969 NIPAL4 ENSG00000172548 ICHTHYIN 28018 609383 Q0D2K0 ICHYN ichthyin NIPA-like domain containing 4 hrdo:gen_id_18979 C16ORF57 ENSG00000103005 HVSL1 25792 613276 Q9BQ65 FLJ13154 HVSL1 Chromosome 16 open reading frame 57 hrdo:gen_id_18980 LTBP4 ENSG00000090006 LTBP4 6717 604710 Q8N2S1 FLJ46318 FLJ90018 LTBP-4 LTBP-4L Latent transforming growth factor beta binding protein 4 hrdo:gen_id_18981 TRPM1 ENSG00000134160 TRPM1 7146 493 603576 Q7Z4N2 LTRPC1 MLSN1 melastatin 1 Transient receptor potential cation channel, subfamily M, member 1 hrdo:gen_id_18982 CARD9 ENSG00000187796 CARD9 16391 607212 Q9H257 Q9H257 Caspase recruitment domain family, member 9 hrdo:gen_id_18983 CLEC7A ENSG00000172243 CLEC7A 14558 606264 Q9BXN2 CLECSF12 dectin-1 hDectin-1 C-type lectin domain family 7, member A hrdo:gen_id_18984 WDR72 ENSG00000166415 WDR72 26790 613214 Q3MJ13 FLJ38736 WD repeat domain 72 hrdo:gen_id_18985 EIF4E ENSG00000151247 EIF4E 3287 133440 P06730 P06730 EIF4E1 EIF4EL1 EIF4F Eukaryotic translation initiation factor 4E hrdo:gen_id_18986 NEXN ENSG00000162614 NEXN 29557 613121 Q0ZGT2 NELIN Nexilin (F actin binding protein) hrdo:gen_id_18987 GRXCR1 ENSG00000215203 GRXCR1 31673 613283 A8MXD5 DFNB25 Glutaredoxin, cysteine rich 1 hrdo:gen_id_18988 RAB39B ENSG00000155961 RAB39B 16499 300774 Q96DA2 RAB39B, member RAS oncogene family hrdo:gen_id_18989 RPS10 ENSG00000124614 RPS10 10383 603632 P46783 P46783 MGC88819 Ribosomal protein S10 hrdo:gen_id_18990 RPS26 ENSG00000197728 RPS26 10414 603701 P62854 P62854 Ribosomal protein S26 hrdo:gen_id_18991 TSPAN12 ENSG00000106025 TSPAN12 21641 613138 O95859 NET-2 TM4SF12 Tetraspanin 12 hrdo:gen_id_18992 SH3PXD2B ENSG00000174705 SH3PXD2B 29242 613293 A1X283 FLJ20831 KIAA1295 SH3 and PX domains 2B hrdo:gen_id_18993 SMARCA4 ENSG00000127616 SMARCA4 11100 603254 P51532 BAF190 BRG1 FLJ39786 SNF2 SNF2-BETA SNF2L4 SNF2LB SWI2 hSNF2b SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 hrdo:gen_id_18994 KRT6C ENSG00000170465 KRT6C 20406 612315 P48668 KRT6E Keratin 6C hrdo:gen_id_18995 TRIP11 ENSG00000100815 TRIP11 12305 604505 Q15643 CEV14 GMAP-210 Trip230 Thyroid hormone receptor interactor 11 hrdo:gen_id_18996 INF2 ENSG00000203485 INF2 23791 610982 Q27J81 C14orf151 C14orf173 MGC13251 Inverted formin, FH2 and WH2 domain containing hrdo:gen_id_18997 DHODH ENSG00000102967 DHODH 2867 126064 Q02127 Q02127 Dihydroorotate dehydrogenase hrdo:gen_id_18998 CHGB ENSG00000089199 CHGB 1930 118920 P05060 SCG1 Chromogranin B (secretogranin 1) hrdo:gen_id_18999 GP6 ENSG00000088053 GP6 14388 605546 Q9HCN6 Q9HCN6 GPVI Glycoprotein VI (platelet) hrdo:gen_id_19021 TUBB3 ENSG00000198211 TUBB3 20772 602661 Q13509 Q13509 TUBB4, beta-4 Tubulin, beta 3 hrdo:gen_id_19022 PDE8B ENSG00000113231 PDE8B 8794 603390 O95263 O95263 Phosphodiesterase 8B hrdo:gen_id_19023 EPCAM ENSG00000119888 EPCAM 11529 185535 P16422 17-1A 323/A3 CD326 CO-17A EGP-2 EGP34 EGP40 ESA Ep-CAM GA733-2 HEA125 KS1/4 KSA Ly74 M4S1 MH99 MIC18 MK-1 MOC31 TACST-1 TACSTD1 TROP1 Epithelial cell adhesion molecule hrdo:gen_id_19024 SYP ENSG00000102003 SYP 11506 313475 P08247 Synaptophysin hrdo:gen_id_19025 CLCN2 ENSG00000114859 CLCN2 2020 600570 P51788 CLC2 EJM6 Chloride channel 2 hrdo:gen_id_19026 EHMT1 ENSG00000181090 EHMT1 24650 607001 Q9H9B1 Eu-HMTase1 FLJ12879 KIAA1876 KMT1D bA188C12.1 Euchromatic histone-lysine N-methyltransferase 1 hrdo:gen_id_19027 CHST14 ENSG00000169105 CHST14 24464 608429 Q8NCH0 D4ST-1 D4ST1 HD4ST Carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 hrdo:gen_id_19028 CD247 ENSG00000198821 CD247 1677 186780 P20963 P20963 CD3H CD3Q CD3Z CD3z antigen, zeta polypeptide (TiT3 complex) CD247 molecule hrdo:gen_id_19037 SLC52A3 ENSG00000101276 C20orf54 16187 613350 Q9NQ40 C20orf54 Chromosome 20 open reading frame 54 Hypothetical protein LOC113278 RFVT3 bA371L19.1 hRFT2 Solute carrier family 52, riboflavin transporter, member 3 hrdo:gen_id_19038 FLVCR2 ENSG00000224721 FLVCR2 20105 610865 Q9UPI3 C14orf58 FLJ20371 MFSD7C Feline leukemia virus subgroup C cellular receptor family, member 2 hrdo:gen_id_19039 PTHLH ENSG00000087494 PTHLH 9607 168470 P12272 P12272 HHM PLP PTHR PTHRP osteostatin Parathyroid hormone-like hormone hrdo:gen_id_19040 TPRN ENSG00000176058 TPRN 26894 613354 Q4KMQ1 C9orf75 DFNB79 FLJ90254 Taperin hrdo:gen_id_19041 MYBPC1 ENSG00000196091 MYBPC1 7549 160794 Q00872 Q00872 Myosin binding protein C, slow type hrdo:gen_id_19042 TMEM127 ENSG00000135956 TMEM127 26038 613403 O75204 FLJ20507 FLJ22257 Transmembrane protein 127 hrdo:gen_id_19043 XPNPEP3 ENSG00000196236 XPNPEP3 28052 613553 Q9NQH7 APP3 X-prolyl aminopeptidase (aminopeptidase P) 3, putative hrdo:gen_id_19044 PTRF ENSG00000177469 PTRF 9688 603198 Q6NZI2 Q6NZI2 cavin-1 Polymerase I and transcript release factor hrdo:gen_id_19045 VIPAR ENSG00000151445 VIPAR 20347 613401 Q9H9C1 C14orf133 SPE-39 SPE39 VPS16B VPS33B interacting protein, apical-basolateral polarity regulator hrdo:gen_id_19046 SERPINH1 ENSG00000149257 SERPINH1 1546 600943 P50454 CBP1 CBP2 HSP47 SERPINH2 colligen Serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) hrdo:gen_id_19047 STXBP2 ENSG00000076944 STXBP2 11445 601717 Q15833 Hunc18b UNC18B Syntaxin binding protein 2 hrdo:gen_id_19048 BLK ENSG00000136573 BLK 1057 191305 P51451 P51451 MGC10442 B lymphoid tyrosine kinase hrdo:gen_id_19049 HSPB3 ENSG00000169271 HSPB3 5248 604624 Q12988 HSPL27 Heat shock 27kDa protein 3 hrdo:gen_id_19050 SLC34A1 ENSG00000131183 SLC34A1 11019 182309 Q06495 Q06495 NAPI-3 NPT2 NPTIIa SLC11 SLC17A2 Solute carrier family 34 (sodium phosphate), member 1 hrdo:gen_id_19051 PTPRQ ENSG00000139304 PTPRQ 9679 603317 Q9UMZ3 Protein tyrosine phosphatase, receptor type, Q hrdo:gen_id_19052 UNC119 ENSG00000109103 UNC119 12565 604011 Q13432 HRG4 POC7 POC7A Unc-119 homolog (C. elegans) hrdo:gen_id_19136 RAD51C ENSG00000108384 RAD51C 9820 602774 O43502 O43502 RAD51L2 RAD51 homolog C (S. cerevisiae) hrdo:gen_id_19137 PNKP ENSG00000039650 PNKP 9154 605610 Q96T60 PNK Polynucleotide kinase 3'-phosphatase hrdo:gen_id_19138 KRT74 ENSG00000170484 KRT74 28929 608248 Q7RTS7 K6IRS4 KRT5C KRT6IRS4 Keratin 74 hrdo:gen_id_19139 APCDD1 ENSG00000154856 APCDD1 15718 607479 Q8J025 B7323 Adenomatosis polyposis coli down-regulated 1 hrdo:gen_id_19140 KDR ENSG00000128052 KDR 6307 191306 P35968 P35968 CD309 FLK1 VEGFR VEGFR2 Kinase insert domain receptor (a type III receptor tyrosine kinase) hrdo:gen_id_19181 WNT5A ENSG00000114251 WNT5A 12784 164975 P41221 P41221 hWNT5A Wingless-type MMTV integration site family, member 5A hrdo:gen_id_19183 SETBP1 ENSG00000152217 SETBP1 15573 611060 Q9Y6X0 KIAA0437 SEB SET binding protein 1 hrdo:gen_id_19188 FOXI1 ENSG00000168269 FOXI1 3815 601093 Q12951 FKHL10 FREAC6 Forkhead box I1 hrdo:gen_id_19194 TNFRSF13C ENSG00000159958 TNFRSF13C 17755 606269 Q96RJ3 BAFFR CD268 Tumor necrosis factor receptor superfamily, member 13C hrdo:gen_id_19197 PIGA ENSG00000165195 PIGA 8957 311770 P37287 P37287 GPI3 Phosphatidylinositol glycan anchor biosynthesis, class A hrdo:gen_id_19204 DAO ENSG00000110887 DAO 2671 124050 P14920 P14920 DAMOX D-amino-acid oxidase hrdo:gen_id_19218 TMEM126A ENSG00000171202 TMEM126A 25382 612988 Q9H061 DKFZp586C1924 Transmembrane protein 126A hrdo:gen_id_19219 DPP6 ENSG00000130226 DPP6 3010 126141 P42658 DPPX dipeptidylpeptidase 6 Dipeptidyl-peptidase 6 hrdo:gen_id_19220 AARS ENSG00000090861 AARS 20 601065 P49588 P49588 alanine tRNA ligase 1, cytoplasmic Alanyl-tRNA synthetase hrdo:gen_id_19221 NKX3-2 ENSG00000109705 NKX3-2 951 602183 P78367 BAPX1 NKX3.2 NKX3B NK3 homeobox 2 hrdo:gen_id_19222 TMCO1 ENSG00000143183 TMCO1 18188 614123 Q9UM00 HP10122 TMCC4 Transmembrane and coiled-coil domains 1 hrdo:gen_id_19223 MEF2C ENSG00000081189 MEF2C 6996 600662 Q06413 Q06413 Myocyte enhancer factor 2C hrdo:gen_id_19224 ITCH ENSG00000078747 ITCH 13890 606409 Q96J02 Q96J02 AIP4 Itchy E3 ubiquitin protein ligase homolog (mouse) hrdo:gen_id_19225 IQSEC2 ENSG00000124313 IQSEC2 29059 300522 Q5JU85 KIAA0522 IQ motif and Sec7 domain 2 hrdo:gen_id_19227 C2ORF71 ENSG00000179270 C2orf71 34383 613425 A6NGG8 FLJ34931 Chromosome 2 open reading frame 71 hrdo:gen_id_19228 SERPINB6 ENSG00000124570 SERPINB6 8950 173321 P35237 CAP DFNB91 PI6 PTI Serpin peptidase inhibitor, clade B (ovalbumin), member 6 hrdo:gen_id_19229 RBM10 ENSG00000182872 RBM10 9896 300080 P98175 DXS8237E GPATC9 GPATCH9 KIAA0122 ZRANB5 RNA binding motif protein 10 hrdo:gen_id_19230 LRP4 ENSG00000134569 LRP4 6696 604270 O75096 MEGF7 Low density lipoprotein receptor-related protein 4 hrdo:gen_id_19231 FKBP10 ENSG00000141756 FKBP10 18169 607063 Q96AY3 FKBP6 FLJ20683 FLJ22041 FLJ23833 hFKBP65 FK506 binding protein 10, 65 kDa hrdo:gen_id_19232 VIM ENSG00000026025 VIM 12692 193060 P08670 P08670 Vimentin hrdo:gen_id_19233 AGRN ENSG00000188157 AGRN 329 103320 O00468 O00468 AGRIN Agrin hrdo:gen_id_19234 MSMB ENSG00000138294 MSMB 7372 157145 P08118 IGBF MSP MSPB PN44 PRPS PSP PSP-94 PSP57 PSP94 Microseminoprotein, beta- hrdo:gen_id_19235 CEBPA ENSG00000245848 CEBPA 1833 116897 P49715 P49715 C/EBP-alpha CEBP CCAAT/enhancer binding protein (C/EBP), alpha hrdo:gen_id_19236 HBG1 ENSG00000213934 HBG1 4831 142200 P69891 P69891 Hemoglobin, gamma A hrdo:gen_id_19237 HBG2 ENSG00000196565 HBG2 4832 142250 P69892 P69892 Hemoglobin, gamma G hrdo:gen_id_19239 KCNJ5 ENSG00000120457 KCNJ5 6266 437 600734 P48544 P48544 CIR GIRK4 KATP1 Kir3.4 Potassium inwardly-rectifying channel, subfamily J, member 5 hrdo:gen_id_19240 SPTAN1 ENSG00000197694 SPTAN1 11273 182810 Q13813 Q13813 Spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) hrdo:gen_id_19241 HPSE2 ENSG00000172987 HPSE2 18374 613469 Q8WWQ2 HPA2 HPR2 Heparanase 2 hrdo:gen_id_19242 MS4A1 ENSG00000156738 MS4A1 7315 112210 P11836 B1 Bp35 CD20 MS4A2 Membrane-spanning 4-domains, subfamily A, member 1 hrdo:gen_id_19243 CD81 ENSG00000110651 CD81 1701 186845 P60033 P60033 TAPA-1 TAPA1 TSPAN28 CD81 molecule hrdo:gen_id_19244 CRYGS ENSG00000213139 CRYGS 2417 123730 P22914 CRYG8 Crystallin, gamma S hrdo:gen_id_19245 IFT122 ENSG00000163913 IFT122 13556 606045 Q9HBG6 SPG WDR10 WDR10p WDR140 Intraflagellar transport 122 homolog (Chlamydomonas) hrdo:gen_id_19246 ATG16L1 ENSG00000085978 ATG16L1 21498 610767 Q676U5 APG16L ATG16A ATG16L FLJ10035 WDR30 ATG16 autophagy related 16-like 1 (S. cerevisiae) hrdo:gen_id_19247 ETV4 ENSG00000175832 ETV4 3493 600711 P43268 E1A-F E1AF Ets variant 4 hrdo:gen_id_19253 SP7 ENSG00000170374 SP7 17321 606633 Q8TDD2 OSX osterix Sp7 transcription factor hrdo:gen_id_19254 CD2AP ENSG00000198087 CD2AP 14258 604241 Q9Y5K6 Q9Y5K6 CMS CD2-associated protein hrdo:gen_id_19255 CD79B ENSG00000007312 CD79B 1699 147245 P40259 P40259 B29 IGB CD79b molecule, immunoglobulin-associated beta hrdo:gen_id_19256 BLNK ENSG00000095585 BLNK 14211 604515 Q8WV28 Q8WV28 BLNK-s Ly57 SLP-65 SLP65 B-cell linker hrdo:gen_id_19257 ARMS2 ENSG00000254636 ARMS2 32685 611313 P0C7Q2 LOC387715 Age-related maculopathy susceptibility 2 hrdo:gen_id_19258 TBX20 ENSG00000164532 TBX20 11598 606061 Q9UMR3 T-box 20 hrdo:gen_id_19259 TLL1 ENSG00000038295 TLL1 11843 606742 O43897 Tolloid-like 1 hrdo:gen_id_19274 TTC37 ENSG00000198677 TTC37 23639 614589 Q6PGP7 KIAA0372 Tetratricopeptide repeat domain 37 hrdo:gen_id_19306 IL12RB2 ENSG00000081985 IL12RB2 5972 601642 Q99665 Interleukin 12 receptor, beta 2 hrdo:gen_id_19309 HDAC4 ENSG00000068024 HDAC4 14063 605314 P56524 P56524 HA6116 HD4 HDAC-A HDACA KIAA0288 Histone deacetylase 4 hrdo:gen_id_19310 PDE6G ENSG00000185527 PDE6G 8789 180073 P18545 P18545 PDEG Phosphodiesterase 6G, cGMP-specific, rod, gamma hrdo:gen_id_19311 IMPG2 ENSG00000081148 IMPG2 18362 607056 Q9BZV3 IPM200 Interphotoreceptor matrix proteoglycan 2 hrdo:gen_id_19312 MLL2 ENSG00000167548 MLL2 7133 602113 O14686 ALR CAGL114 KMT2D MLL4 TNRC21 Myeloid/lymphoid or mixed-lineage leukemia 2 hrdo:gen_id_19313 TWIST2 ENSG00000233608 TWIST2 20670 607556 Q8WVJ9 DERMO1 Dermo-1 bHLHa39 Twist homolog 2 (Drosophila) hrdo:gen_id_19314 SPIB ENSG00000142539 SPIB 11242 606802 Q01892 SPI-B Spi-B transcription factor (Spi-1/PU.1 related) hrdo:gen_id_19315 IL12A ENSG00000168811 IL12A 5969 161560 P29459 CLMF IL-12A NFSK NKSF1 p35 Interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35) hrdo:gen_id_19316 IRF5 ENSG00000128604 IRF5 6120 607218 Q13568 Q13568 Interferon regulatory factor 5 hrdo:gen_id_19317 TNPO3 ENSG00000064419 TNPO3 17103 610032 Q9Y5L0 IPO12 MTR10A TRN-SR TRN-SR2 Transportin 3 hrdo:gen_id_19318 MMEL1 ENSG00000142606 MMEL1 14668 Q495T6 MMEL2 NEPII NL1 NL2 SEP Membrane metallo-endopeptidase-like 1 hrdo:gen_id_19319 NFIX ENSG00000008441 NFIX 7788 164005 Q14938 Q14938 NF1A Nuclear factor I/X (CCAAT-binding transcription factor) hrdo:gen_id_19320 PON1 ENSG00000005421 PON1 9204 168820 P27169 PON Paraoxonase 1 hrdo:gen_id_19321 PON2 ENSG00000105854 PON2 9205 602447 Q15165 Paraoxonase 2 hrdo:gen_id_19322 PON3 ENSG00000105852 PON3 9206 602720 Q15166 Paraoxonase 3 hrdo:gen_id_19323 PDZD7 ENSG00000186862 PDZD7 26257 612971 Q9H5P4 FLJ23209 PDZK7 bA108L7.8 PDZ domain containing 7 hrdo:gen_id_19324 TBC1D24 ENSG00000162065 TBC1D24 29203 613577 Q9ULP9 KIAA1171 TBC1 domain family, member 24 hrdo:gen_id_19325 WDR62 ENSG00000075702 WDR62 24502 613583 O43379 C19orf14 DKFZP434J046 FLJ33298 WD repeat domain 62 hrdo:gen_id_19326 WDR35 ENSG00000118965 WDR35 29250 613602 Q9P2L0 KIAA1336 MGC33196 WD repeat domain 35 hrdo:gen_id_19327 OCLN ENSG00000197822 OCLN 8104 602876 Q16625 Q16625 Occludin hrdo:gen_id_19328 FAM161A ENSG00000170264 FAM161A 25808 613596 Q3B820 FLJ13305 Family with sequence similarity 161, member A hrdo:gen_id_19329 ZNF513 ENSG00000163795 ZNF513 26498 613598 Q8N8E2 FLJ32203 Zinc finger protein 513 hrdo:gen_id_19330 ABHD12 ENSG00000100997 ABHD12 15868 613599 Q8N2K0 ABHD12A BEM46L2 C20orf22 DKFZP434P106 dJ965G21.2 Abhydrolase domain containing 12 hrdo:gen_id_19338 GPSM2 ENSG00000121957 GPSM2 29501 609245 P81274 DFNB82 LGN Pins G-protein signaling modulator 2 hrdo:gen_id_19339 YARS2 ENSG00000139131 YARS2 24249 610957 Q9Y2Z4 Q9Y2Z4 CGI-04 FLJ13995 mt-TyrRS Tyrosyl-tRNA synthetase 2, mitochondrial hrdo:gen_id_19340 KLF1 ENSG00000105610 KLF1 6345 600599 Q13351 EKLF Kruppel-like factor 1 (erythroid) hrdo:gen_id_19341 CEP152 ENSG00000103995 CEP152 29298 613529 O94986 O94986 KIAA0912 Centrosomal protein 152kDa hrdo:gen_id_19342 APOL1 ENSG00000100342 APOL1 618 603743 O14791 APOL Apolipoprotein L, 1 hrdo:gen_id_19343 CBX2 ENSG00000173894 CBX2 1552 602770 Q14781 CDCA6 MGC10561 Chromobox homolog 2 hrdo:gen_id_19344 CITED2 ENSG00000164442 CITED2 1987 602937 Q99967 MRG1 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 hrdo:gen_id_19450 CYP2D6 ENSG00000100197 CYP2D6 2625 124030 P10635 P10635 CYP2D7AP CYP2D7BP CYP2D7P2 CYP2D8P2 CYP2DL1 Cytochrome P450, family 2, subfamily D, polypeptide 6 hrdo:gen_id_19451 CYP2C19 ENSG00000165841 CYP2C19 2621 124020 P33261 P33261 CPCJ CYP2C P450IIC19 Cytochrome P450, family 2, subfamily C, polypeptide 19 hrdo:gen_id_19452 CYP2C9 ENSG00000138109 CYP2C9 2623 601130 P11712 P11712 CYP2C10 P450IIC9 Cytochrome P450, family 2, subfamily C, polypeptide 9 hrdo:gen_id_19453 TYMS ENSG00000176890 TYMS 12441 188350 P04818 P04818 HsT422 TMS TS Tsase Thymidylate synthetase hrdo:gen_id_19454 NAT2 ENSG00000156006 NAT2 7646 612182 P11245 P11245 AAC2 N-acetyltransferase 2 (arylamine N-acetyltransferase) hrdo:gen_id_19455 CYP2B6 ENSG00000197408 CYP2B6 2615 123930 P20813 P20813 CPB6 CYP2B CYPIIB6 Cytochrome P450, family 2, subfamily B, polypeptide 6 hrdo:gen_id_19456 COMT ENSG00000093010 COMT 2228 116790 P21964 P21964 Catechol-O-methyltransferase hrdo:gen_id_19457 CYP3A5 ENSG00000106258 CYP3A5 2638 605325 P20815 P20815 CP35 P450PCN3 PCN3 Cytochrome P450, family 3, subfamily A, polypeptide 5 hrdo:gen_id_19458 SLCO1B1 ENSG00000134538 SLCO1B1 10959 604843 Q9Y6L6 Q9Y6L6 LST-1 OATP-C SLC21A6 Solute carrier organic anion transporter family, member 1B1 hrdo:gen_id_19459 RAD50 ENSG00000113522 RAD50 9816 604040 Q92878 Q92878 RAD50-2 hRad50 RAD50 homolog (S. cerevisiae) hrdo:gen_id_19460 HOGA1 ENSG00000241935 DHDPSL 25155 613597 Q86XE5 C10orf65 DHDPS2 DHDPSL FLJ37472 NPL2 Dihydrodipicolinate synthase-like, mitochondrial hrdo:gen_id_19461 DISP1 ENSG00000154309 DISP1 19711 607502 Q96F81 DISPA DKFZP434I0428 MGC13130 MGC16796 Dispatched homolog 1 (Drosophila) hrdo:gen_id_19462 SULF1 ENSG00000137573 SULF1 20391 610012 Q8IWU6 KIAA1077 SULF-1 Sulfatase 1 hrdo:gen_id_19463 SLCO5A1 ENSG00000137571 SLCO5A1 19046 613543 Q9H2Y9 OATP-J OATP5A1 OATPRP4 SLC21A15 Solute carrier organic anion transporter family, member 5A1 hrdo:gen_id_19464 CBL ENSG00000110395 CBL 1541 165360 P22681 P22681 CBL2 RNF55 Cas-Br-M (murine) ecotropic retroviral transforming sequence hrdo:gen_id_19465 SRD5A3 ENSG00000128039 SRD5A3 25812 611715 Q9H8P0 Q9H8P0 FLJ13352 SRD5A2L SRD5A2L1 Steroid 5 alpha-reductase 3 hrdo:gen_id_19466 TJP2 ENSG00000119139 TJP2 11828 607709 Q9UDY2 Q9UDY2 X104 ZO-2 ZO2 Tight junction protein 2 (zona occludens 2) hrdo:gen_id_19467 C12ORF65 ENSG00000130921 C12orf65 26784 613541 Q9H3J6 FLJ38663 Chromosome 12 open reading frame 65 hrdo:gen_id_19472 MBD5 ENSG00000204406 MBD5 20444 611472 Q9P267 FLJ11113 KIAA1461 Methyl-CpG binding domain protein 5 hrdo:gen_id_19475 DMGDH ENSG00000132837 DMGDH 24475 605849 Q9UI17 Dimethylglycine dehydrogenase hrdo:gen_id_19479 SLC9A3R1 ENSG00000109062 SLC9A3R1 11075 604990 O14745 EBP50 NHERF Solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1 hrdo:gen_id_19480 SDCCAG8 ENSG00000054282 SDCCAG8 10671 613524 Q86SQ7 Q86SQ7 CCCAP NPHP10 NY-CO-8 Serologically defined colon cancer antigen 8 hrdo:gen_id_19481 ZNF592 ENSG00000166716 ZNF592 28986 613624 Q92610 KIAA0211 Zinc finger protein 592 hrdo:gen_id_19482 NUBPL ENSG00000151413 NUBPL 20278 613621 Q8TB37 C14orf127 FLJ12660 Nucleotide binding protein-like hrdo:gen_id_19483 FOXRED1 ENSG00000110074 FOXRED1 26927 613622 Q96CU9 H17 FAD-dependent oxidoreductase domain containing 1 hrdo:gen_id_19484 SLC24A1 ENSG00000074621 SLC24A1 10975 603617 O60721 O60721 HsT17412 KIAA0702 NCKX NCKX1 RODX Solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 hrdo:gen_id_19485 CDHR1 ENSG00000148600 CDHR1 14550 609502 Q96JP9 KIAA1775 PCDH21 protocadherin 21 Cadherin-related family member 1 hrdo:gen_id_19486 SCARF2 ENSG00000244486 SCARF2 19869 613619 Q96GP6 HUMZD58C02 SREC-II SREC2 Scavenger receptor class F, member 2 hrdo:gen_id_19487 BMPER ENSG00000164619 BMPER 24154 608699 Q8N8U9 CRIM3 Cv2 crossveinless-2 BMP binding endothelial regulator hrdo:gen_id_19488 SPTLC2 ENSG00000100596 SPTLC2 11278 605713 O15270 O15270 KIAA0526 LCB2 LCB2A Serine palmitoyltransferase, long chain base subunit 2 hrdo:gen_id_19489 WDR11 ENSG00000120008 WDR11 13831 606417 Q9BZH6 BRWD2 FLJ10506 KIAA1351 WD repeat domain 11 hrdo:gen_id_19490 RFT1 ENSG00000163933 RFT1 30220 611908 Q96AA3 Q96AA3 RFT1 homolog (S. cerevisiae) hrdo:gen_id_19491 AIFM1 ENSG00000156709 AIFM1 8768 300169 O95831 AIF PDCD8 Apoptosis-inducing factor, mitochondrion-associated, 1 hrdo:gen_id_19492 SLC6A3 ENSG00000142319 SLC6A3 11049 126455 Q01959 Q01959 DAT DAT1 Solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 hrdo:gen_id_19493 BAAT ENSG00000136881 BAAT 932 602938 Q14032 Q14032 BAT Bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) hrdo:gen_id_19494 ITK ENSG00000113263 ITK 6171 186973 Q08881 Q08881 EMT LYK PSCTK2 IL2-inducible T-cell kinase hrdo:gen_id_19495 CAMKMT ENSG00000143919 C2orf34 26276 609559 Q7Z624 C2ORF34 CLNMT CaM KMT calmodulin-lysine N-methyltransferase hrdo:gen_id_19496 PPM1B ENSG00000138032 PPM1B 9276 603770 O75688 O75688 PP2CB PP2CBETA PPC2BETAX Protein phosphatase, Mg2+/Mn2+ dependent, 1B hrdo:gen_id_19497 IL10RA ENSG00000110324 IL10RA 5964 146933 Q13651 CDW210A HIL-10R IL10R Interleukin 10 receptor, alpha hrdo:gen_id_19498 IL10RB ENSG00000243646 IL10RB 5965 123889 Q08334 CDW210B CRF2-4 CRFB4 D21S58 D21S66 IL-10R2 Interleukin 10 receptor, beta hrdo:gen_id_19499 DCC ENSG00000187323 DCC 2701 120470 P43146 P43146 IGDCC1 Deleted in colorectal carcinoma hrdo:gen_id_19500 CCDC39 ENSG00000145075 CCDC39 25244 613798 Q9UFE4 Coiled-coil domain containing 39 hrdo:gen_id_19501 CCDC40 ENSG00000141519 CCDC40 26090 613799 Q4G0X9 FLJ20753 FLJ32021 KIAA1640 Coiled-coil domain containing 40 hrdo:gen_id_19502 FLVCR1 ENSG00000162769 FLVCR1 24682 609144 Q9Y5Y0 Q9Y5Y0 AXPC1 FLVCR MFSD7B PCA ataxia, posterior column 1, with retinitis pigmentosa Feline leukemia virus subgroup C cellular receptor 1 hrdo:gen_id_19503 MYLK ENSG00000065534 MYLK 7590 600922 Q15746 Q15746 MLCK MLCK1 MYLK1 smMLCK Myosin light chain kinase hrdo:gen_id_19504 NTRK3 ENSG00000140538 NTRK3 8033 191316 Q16288 Q16288 TRKC Neurotrophic tyrosine kinase, receptor, type 3 hrdo:gen_id_19505 CREB1 ENSG00000118260 CREB1 2345 123810 P16220 P16220 cAMP responsive element binding protein 1 hrdo:gen_id_19506 IDH2 ENSG00000182054 IDH2 5383 147650 P48735 P48735 Isocitrate dehydrogenase 2 (NADP+), mitochondrial hrdo:gen_id_19507 PDCD1 ENSG00000188389 PDCD1 8760 600244 Q15116 Q15116 CD279 PD1 Programmed cell death 1 hrdo:gen_id_19508 ANGPTL3 ENSG00000132855 ANGPTL3 491 604774 Q9Y5C1 ANGPT5 angiopoietin 5 Angiopoietin-like 3 hrdo:gen_id_19509 WDPCP ENSG00000143951 WDPCP 28027 613580 O95876 BBS15 C2ORF86 fritz hFrtz WD repeat containing planar cell polarity effector hrdo:gen_id_19563 MAPK10 ENSG00000109339 MAPK10 6872 602897 P53779 P53779 JNK3 PRKM10 p493F12 p54bSAPK Mitogen-activated protein kinase 10 hrdo:gen_id_19581 HDAC6 ENSG00000094631 HDAC6 14064 300272 Q9UBN7 Q9UBN7 FLJ16239 HD6 JM21 KIAA0901 Histone deacetylase 6 hrdo:gen_id_19582 HMGA2 ENSG00000149948 HMGA2 5009 600698 P52926 BABL HMGIC LIPO High mobility group AT-hook 2 hrdo:gen_id_19584 POLR1D ENSG00000186184 POLR1D 20422 613715 Q9Y2S0 Q9Y2S0 MGC9850 RPA16 RPA9 RPAC2 RPO1-3 Polymerase (RNA) I polypeptide D, 16kDa hrdo:gen_id_19585 MAGT1 ENSG00000102158 MAGT1 28880 300715 Q9H0U3 DKFZp564K142 IAP MRX95 OST3B Magnesium transporter 1 hrdo:gen_id_19586 GDF3 ENSG00000184344 GDF3 4218 606522 Q9NR23 Growth differentiation factor 3 hrdo:gen_id_19587 POLR1C ENSG00000171453 POLR1C 20194 610060 O15160 O15160 RPA39 RPA40 RPA5 RPAC1 Polymerase (RNA) I polypeptide C, 30kDa hrdo:gen_id_19617 SEPSECS ENSG00000109618 SEPSECS 30605 613009 Q9HD40 SLA SLA/LP Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase hrdo:gen_id_19641 PIGV ENSG00000060642 PIGV 26031 610274 Q9NUD9 Q9NUD9 FLJ20477 Phosphatidylinositol glycan anchor biosynthesis, class V hrdo:gen_id_19677 PVRL4 ENSG00000143217 PVRL4 19688 609607 Q96NY8 Q96NY8 LNIR PRR4 nectin-4 Poliovirus receptor-related 4 hrdo:gen_id_19678 RP1L1 ENSG00000183638 RP1L1 15946 608581 Q8IWN7 DCDC4B Retinitis pigmentosa 1-like 1 hrdo:gen_id_19721 MASP1 ENSG00000127241 MASP1 6901 600521 P48740 P48740 CRARF MASP PRSS5 Mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) hrdo:gen_id_19734 NDUFA2 ENSG00000131495 NDUFA2 7685 602137 O43678 O43678 B8 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa hrdo:gen_id_19735 PDSS1 ENSG00000148459 PDSS1 17759 607429 Q5T2R2 COQ1 TPRT TPT Prenyl (decaprenyl) diphosphate synthase, subunit 1 hrdo:gen_id_19816 MSRB3 ENSG00000174099 MSRB3 27375 613719 Q8IXL7 Methionine sulfoxide reductase B3 hrdo:gen_id_19817 PLCB1 ENSG00000182621 PLCB1 15917 607120 Q9NQ66 Q9NQ66 KIAA0581 PLC-I PLC154 Phospholipase C, beta 1 hrdo:gen_id_19818 KBTBD13 ENSG00000234438 KBTBD13 37227 613727 C9JR72 hCG_1645727 kelch repeat and BTB (POZ) domain containing 13 hrdo:gen_id_19820 PSMB8 ENSG00000204264 PSMB8 9545 177046 P28062 P28062 D6S216E PSMB5i RING10 beta5i Proteasome subunit, beta type, 8 hrdo:gen_id_19821 NEK1 ENSG00000137601 NEK1 7744 604588 Q96PY6 KIAA1901 NY-REN-55 NIMA (never in mitosis gene a)-related kinase 1 hrdo:gen_id_19822 AIMP1 ENSG00000164022 AIMP1 10648 603605 Q12904 Q12904 ARS-interacting multifunctional protein 1 EMAP-2 EMAPII p43 Aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 hrdo:gen_id_19823 SMOC1 ENSG00000198732 SMOC1 20318 608488 Q9H4F8 SPARC related modular calcium binding 1 hrdo:gen_id_19824 ANO6 ENSG00000177119 ANO6 25240 608663 Q4KMQ2 DKFZp313M0720 Anoctamin 6 hrdo:gen_id_19825 PROCR ENSG00000101000 PROCR 9452 600646 Q9UNN8 CCD41 CD201 EPCR protein C receptor, endothelial hrdo:gen_id_19826 SLX4 ENSG00000188827 BTBD12 23845 613278 Q8IY92 FANCP Fanconi anemia, complementation group P SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) hrdo:gen_id_19827 ACP5 ENSG00000102575 ACP5 124 171640 P13686 P13686 TRAP acid phosphatase 5, tartrate resistant hrdo:gen_id_19828 DHDDS ENSG00000117682 DHDDS 20603 608172 Q86SQ9 DS HDS dehydrodolichyl diphosphate synthase hrdo:gen_id_19829 GFPT1 ENSG00000198380 GFPT1 4241 138292 Q06210 Q06210 GFA GFAT GFAT1 glutamine--fructose-6-phosphate transaminase 1 hrdo:gen_id_19830 ILDR1 ENSG00000145103 ILDR1 28741 609739 Q86SU0 immunoglobulin-like domain containing receptor 1 hrdo:gen_id_19832 CX3CR1 ENSG00000168329 CX3CR1 2558 74 601470 P49238 P49238 CCRL1 CMKDR1 V28 chemokine (C-X3-C motif) receptor 1 hrdo:gen_id_19833 SMAD3 ENSG00000166949 SMAD3 6769 603109 P84022 P84022 JV15-2 SMAD family member 3 hrdo:gen_id_19834 ORC4 ENSG00000115947 ORC4 8490 603056 O43929 O43929 HsORC4 Orc4p origin recognition complex, subunit 4 hrdo:gen_id_19835 ORC6 ENSG00000091651 ORC6 17151 607213 Q9Y5N6 Q9Y5N6 origin recognition complex, subunit 6 hrdo:gen_id_19836 CDT1 ENSG00000167513 CDT1 24576 605525 Q9H211 Q9H211 DUP RIS2 chromatin licensing and DNA replication factor 1 hrdo:gen_id_19837 CDC6 ENSG00000094804 CDC6 1744 602627 Q99741 Q99741 cell division cycle 6 homolog (S. cerevisiae) hrdo:gen_id_19838 TTC21B ENSG00000123607 TTC21B 25660 612014 Q7Z4L5 tetratricopeptide repeat domain 21B hrdo:gen_id_19839 TTC19 ENSG00000011295 TTC19 26006 613814 Q6DKK2 tetratricopeptide repeat domain 19 hrdo:gen_id_19840 TCTN2 ENSG00000168778 TCTN2 25774 613846 Q96GX1 MKS8 Meckel syndrome, type 8 TECT2 Tectonic family member 2 hrdo:gen_id_19841 ANKRD26 ENSG00000107890 ANKRD26 29186 610855 Q9UPS8 ankyrin repeat domain 26 hrdo:gen_id_19842 MAP3K1 ENSG00000095015 MAP3K1 6848 600982 Q13233 Q13233 MAPKKK1 MEKK mitogen-activated protein kinase kinase kinase 1 hrdo:gen_id_19843 ORC1 ENSG00000085840 ORC1 8487 601902 Q13415 Q13415 HSORC1 PARC1 origin recognition complex 1 origin recognition complex, subunit 1, S. cerevisiae, homolog-like replication control protein 1 origin recognition complex, subunit 1 hrdo:gen_id_19844 GLYCTK ENSG00000168237 GLYCTK 24247 610516 Q8IVS8 HBEBP2 HBEBP4 glycerate kinase hrdo:gen_id_19845 COLEC11 ENSG00000118004 COLEC11 17213 612502 Q9BWP8 MGC3279 Collectin sub-family member 11 hrdo:gen_id_19846 RNF213 ENSG00000173821 RNF213 14539 613768 Q63HN8 KIAA1554 NET57 ring finger protein 213 hrdo:gen_id_19847 TUBA8 ENSG00000183785 TUBA8 12410 605742 Q9NY65 tubulin, alpha 8 hrdo:gen_id_19848 ATIC ENSG00000138363 ATIC 794 601731 P31939 P31939 AICARFT IMPCHASE PURH phosphoribosylaminoimidazolecarboxamide formyltransferase/IMP cyclohydrolase 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase hrdo:gen_id_20089 MYB ENSG00000118513 MYB 7545 189990 P10242 P10242 c-myb v-myb myeloblastosis viral oncogene homolog (avian) hrdo:gen_id_20096 MYOZ2 ENSG00000172399 MYOZ2 1330 605602 Q9NPC6 CS-1 myozenin 2 hrdo:gen_id_20097 JPH2 ENSG00000149596 JPH2 14202 605267 Q9BR39 JP-2 junctophilin 2 hrdo:gen_id_20099 CALR3 ENSG00000141979 CALR3 20407 611414 Q96L12 CRT2 CT93 FLJ25355 MGC26577 cancer/testis antigen 93 calreticulin 3 hrdo:gen_id_20101 HEPACAM ENSG00000165478 HEPACAM 26361 611642 Q14CZ8 FLJ25530 GLIALCAM glial cell adhesion molecule hepaCAM hepatic and glial cell adhesion molecule hrdo:gen_id_20102 LIPN ENSG00000204020 LIPN 23452 613924 Q5VXI9 lipase, family member N hrdo:gen_id_20105 CHRNA7 ENSG00000175344 CHRNA7 1960 468 118511 P36544 P36544 cholinergic receptor, nicotinic, alpha 7 hrdo:gen_id_20135 PRSS56 39433 613858 P0CW18 protease, serine, 56 hrdo:gen_id_20136 FOXD3 ENSG00000187140 FOXD3 3804 611539 Q9UJU5 Genesis HFH2 forkhead box D3 hrdo:gen_id_20137 RNU4ATAC ENSG00000208506 34016 601428 RNU4ATAC1 RNA, U4atac small nuclear (U12-dependent splicing) hrdo:gen_id_20138 NDUFA10 ENSG00000130414 NDUFA10 7684 603835 O95299 O95299 CI-42k complex I 42kDa subunit NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa hrdo:gen_id_20139 DPY19L2 ENSG00000177990 DPY19L2 19414 613893 Q6NUT2 FLJ32949 dpy-19-like 2 (C. elegans) hrdo:gen_id_20140 SERPINF1 ENSG00000132386 P36955 SERPINF1 8824 172860 EPC-1 PIG35 pigment epithelium-derived factor proliferation-inducing protein 35 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 hrdo:gen_id_20141 TECR ENSG00000099797 GPSN2 4551 610057 Q9NZ01 Q9NZ01 GPSN2 SC2 TER glycoprotein, synaptic 2 trans-2,3-enoyl-CoA reductase hrdo:gen_id_20142 CEACAM16 ENSG00000213892 CEACAM16 31948 614591 Q2WEN9 carcinoembryonic antigen-related cell adhesion molecule 16 hrdo:gen_id_20143 POP1 ENSG00000104356 POP1 30129 602486 Q99575 processing of precursors 1 processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) hrdo:gen_id_20144 IL17RA ENSG00000177663 IL17RA 5985 605461 Q96F46 CD217 CDw217 IL-17RA hIL-17R interleukin 17 receptor A hrdo:gen_id_20145 IL17F ENSG00000112116 IL17F 16404 606496 Q96PD4 IL-17F ML-1 ML1 interleukin 17F hrdo:gen_id_20146 GRIN2B ENSG00000150086 GRIN2B 4586 457 138252 Q13224 Q13224 NMDAR2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B hrdo:gen_id_20147 PRPF6 ENSG00000101161 PRPF6 15860 613979 O94906 O94906 ANT-1 Prp6 TOM U5-102K bB152O15.1 PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) hrdo:gen_id_20148 WRAP53 ENSG00000141499 Q9BUR4 WRAP53 25522 612661 FLJ10385 TCAB1 WD-encoding RNA antisense to p53 WDR79 telomerase cajal body protein 1 WD repeat containing, antisense to TP53 hrdo:gen_id_20149 KARS ENSG00000065427 KARS 6215 601421 Q15046 Q15046 KARS2 lysine tRNA ligase lysyl-tRNA synthetase hrdo:gen_id_20150 VIPR2 ENSG00000106018 VIPR2 12695 372 601970 P41587 P41587 VPAC2 vasoactive intestinal peptide receptor 2 hrdo:gen_id_20151 ARHGAP31 ENSG00000031081 ARHGAP31 29216 610911 Q2M1Z3 Q2M1Z3 CDGAP Rho GTPase activating protein 31 hrdo:gen_id_20152 COA5 ENSG00000183513 33848 613920 Q86WW8 C2ORF64 FLJ27524 MGC52110 Pet191 cytochrome C oxidase assembly factor 5 hrdo:gen_id_20153 MRPS16 ENSG00000182180 MRPS16 14048 609204 Q9Y3D3 CGI-132 mitochondrial ribosomal protein S16 hrdo:gen_id_20154 TUFM ENSG00000178952 TUFM 12420 602389 P49411 EF-TuMT EFTU EFTu Tu translation elongation factor, mitochondrial hrdo:gen_id_20155 ATP5E ENSG00000124172 ATP5E 838 606153 P56381 P56381 ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit hrdo:gen_id_20156 MT-TV MT-TV 7500 590105 MTTV tRNA valine trnV mitochondrially encoded tRNA valine hrdo:gen_id_20157 RAB18 ENSG00000099246 RAB18 14244 602207 Q9NP72 RAB18, member RAS oncogene family hrdo:gen_id_20158 MUC5B ENSG00000117983 MUC5B 7516 600770 Q9HC84 Q9HC84 MG1 Mucin 5B, oligomeric mucus/gel-forming hrdo:gen_id_20159 HARS2 ENSG00000112855 HARS2 4817 600783 P49590 P49590 HARSR HO3 histidine tRNA ligase 2, mitochondrial (putative) histidyl-tRNA synthetase 2, mitochondrial (putative) hrdo:gen_id_20160 KIF7 ENSG00000166813 KIF7 30497 611254 Q2M1P5 JBTS12 kinesin family member 7 hrdo:gen_id_20162 UPK3A ENSG00000100373 UPK3A 12580 611559 O75631 UPK3 Uroplakin 3 Uroplakin 3A hrdo:gen_id_20163 DNAL1 ENSG00000119661 DNAL1 23247 610062 Q4LDG9 1700010H15RiK C14orf168 MGC12435 chromosome 14 open reading frame 168 dynein, axonemal, light chain 1 hrdo:gen_id_20164 ZBTB24 ENSG00000112365 ZBTB24 21143 614064 O43167 BIF1 KIAA0441 PATZ2 POZ (BTB) and AT hook containing zinc finger 2 zinc finger and BTB domain containing 24 hrdo:gen_id_20174 IGHV@ IGHV@ 5545 147070 P01764 P01764 IGHV immunoglobulin heavy variable group hrdo:gen_id_20177 TET2 ENSG00000168769 TET2 25941 612839 Q6N021 FLJ20032 tet oncogene family member 2 hrdo:gen_id_20180 KCTD7 ENSG00000243335 KCTD7 21957 611725 Q96MP8 CLN14 EPM3 FLJ32069 potassium channel tetramerisation domain containing 7 hrdo:gen_id_20181 NCSTN ENSG00000162736 NCSTN Q92542 17091 605254 APH2 KIAA0253 nicastrin hrdo:gen_id_20182 PSENEN ENSG00000205155 PSENEN 30100 607632 Q9NZ42 Q9NZ42 PEN2 presenilin enhancer 2 homolog (C. elegans) hrdo:gen_id_20200 BRCC3 ENSG00000185515 BRCC3 24185 300617 P46736 BRCC36 C6.1A BRCA1/BRCA2-containing complex, subunit 3 hrdo:gen_id_20202 SMPX ENSG00000091482 SMPX 11122 300226 Q9UHP9 small muscle protein, X-linked hrdo:gen_id_20257 IGHV3-21 ENSG00000211947 IGHV3-21 5586 immunoglobulin heavy variable 3-21 hrdo:gen_id_20267 AARS2 ENSG00000124608 AARS2 21022 612035 Q5JTZ9 Q5JTZ9 KIAA1270 alanine tRNA ligase 2, mitochondrial (putative) bA444E17.1 alanyl-tRNA synthetase 2, mitochondrial (putative) hrdo:gen_id_20268 FAM20A ENSG00000108950 FAM20A 23015 611062 Q96MK3 DKFZp434F2322 family with sequence similarity 20, member A hrdo:gen_id_20269 GYG1 ENSG00000163754 GYG1 4699 603942 P46976 P46976 glycogenin 1 hrdo:gen_id_20270 COG5 ENSG00000164597 COG5 14857 606821 Q9UP83 GTC90 component of oligomeric golgi complex 5 hrdo:gen_id_20271 DPM3 ENSG00000179085 DPM3 3007 605951 Q9P2X0 Q9P2X0 MGC125904 MGC125905 MGC34275 dolichyl-phosphate mannosyltransferase polypeptide 3 hrdo:gen_id_20272 COG4 ENSG00000103051 COG4 18620 606976 Q9H9E3 COD1 DKFZP586E1519 component of oligomeric golgi complex 4 hrdo:gen_id_20273 MN1 ENSG00000169184 MN1 7180 156100 Q10571 MGCR1 MGCR1-PEN probable tumor suppressor protein MN1 meningioma (disrupted in balanced translocation) 1 hrdo:gen_id_20274 SFTPA2 ENSG00000185303 SFTPA2 10799 178642 Q8IWL1 Q8IWL1 COLEC5 SP-A2 surfactant, pulmonary-associated protein A2A surfactant protein A2 hrdo:gen_id_20275 TBX2 ENSG00000121068 TBX2 11597 600747 Q13207 T-box 2 hrdo:gen_id_20276 YWHAE ENSG00000108953 YWHAE 12851 605066 P62258 P62258 14-3-3 epsilon FLJ45465 Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide hrdo:gen_id_20277 LMF1 ENSG00000103227 LMF1 14154 611761 Q96S06 FLJ12681 FLJ22302 JFP11 TMEM112A lipase maturation factor 1 hrdo:gen_id_20278 IFT43 ENSG00000119650 29669 614068 Q96FT9 C14orf179 FLJ32173 MGC16028 intraflagellar transport 43 homolog (Chlamydomonas) hrdo:gen_id_20279 IGKC ENSG00000211592 IGKC 5716 147200 P01834 P01834 HCAK1 immunoglobulin kappa constant hrdo:gen_id_20280 DYRK1A ENSG00000157540 DYRK1A 3091 600855 Q13627 Q13627 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A hrdo:gen_id_20281 CEP57 ENSG00000166037 CEP57 30794 607951 Q86XR8 Q86XR8 KIAA0092 TSP57 Translokin centrosomal protein 57kDa hrdo:gen_id_20282 DNMT1 ENSG00000130816 DNMT1 2976 126375 P26358 CXXC9 MCMT DNA (cytosine-5-)-methyltransferase 1 hrdo:gen_id_20283 MYO1E ENSG00000157483 MYO1E 7599 601479 Q12965 HuncM-IC MGC104638 MYO1C myosin-IC myosin IE hrdo:gen_id_20284 GAD1 ENSG00000128683 GAD1 4092 605363 Q99259 Q99259 glutamate decarboxylase 1 (brain, 67kDa) hrdo:gen_id_20285 AP4E1 ENSG00000081014 AP4E1 573 607244 Q9UPM8 Q9UPM8 AP-4-EPSILON adaptor-related protein complex 4, epsilon 1 subunit hrdo:gen_id_20286 AP4B1 ENSG00000134262 AP4B1 572 607245 Q9Y6B7 Q9Y6B7 BETA-4 beta 4 subunit of AP-4 adaptor-related protein complex 4, beta 1 subunit hrdo:gen_id_20287 AP4S1 ENSG00000100478 AP4S1 575 607243 Q9Y587 AP47B CLA20 adaptor-related protein complex 4, sigma 1 subunit hrdo:gen_id_20288 PRRX1 ENSG00000116132 PRRX1 9142 167420 P54821 PHOX1 PMX1 paired related homeobox 1 hrdo:gen_id_20289 GIPC3 ENSG00000179855 GIPC3 18183 608792 Q8TF64 C19orf64 DFNB72 GIPC PDZ domain containing family, member 3 hrdo:gen_id_20290 PRDM5 ENSG00000138738 PRDM5 9349 614161 Q9NQX1 PFM2 PR domain containing 5 hrdo:gen_id_20291 FYCO1 ENSG00000163820 FYCO1 14673 607182 Q9BQS8 FLJ13335 ZFYVE7 FYVE and coiled-coil domain containing 1 hrdo:gen_id_20292 PLCD1 ENSG00000187091 PLCD1 9060 602142 P51178 phospholipase C, delta 1 hrdo:gen_id_20293 B9D1 ENSG00000108641 B9D1 24123 614144 Q9UPM9 B9 EPPB9 endothelial precursor protein B9 B9 protein domain 1 hrdo:gen_id_20295 KIAA1033 ENSG00000136051 KIAA1033 29174 Q2M389 SWIP KIAA1033 hrdo:gen_id_20296 PTPRO ENSG00000151490 PTPRO 9678 600579 Q16827 GLEPP1 NPHS6 PTP-U2 PTP-oc PTPU2 osteoclastic transmembrane protein-tyrosine phosphatase protein tyrosine phosphatase, receptor type, O hrdo:gen_id_20297 DIABLO ENSG00000184047 DIABLO 21528 605219 Q9NR28 Q9NR28 DFNA64 DIABLO-S FLJ10537 FLJ25049 SMAC second mitochondria-derived activator of caspase diablo, IAP-binding mitochondrial protein hrdo:gen_id_20298 CCDC8 ENSG00000169515 CCDC8 25367 614145 Q9H0W5 DKFZp564K0322 coiled-coil domain containing 8 hrdo:gen_id_20299 SPECC1L ENSG00000100014 SPECC1L 29022 614140 Q69YQ0 CYTSA KIAA0376 cytokinesis and spindle organization A cytospin A sperm antigen with calponin homology and coiled-coil domains 1-like hrdo:gen_id_20309 ANKRD11 ENSG00000167522 ANKRD11 21316 611192 Q6UB99 LZ16 T13 Ankyrin repeat domain 11 hrdo:gen_id_20310 DCXR ENSG00000169738 DCXR 18985 608347 Q7Z4W1 DCR KIDCR SDR20C1 short chain dehydrogenase/reductase family 20C, member 1 dicarbonyl/L-xylulose reductase hrdo:gen_id_20311 GATA2 ENSG00000179348 GATA2 4171 137295 P23769 P23769 NFE1B GATA binding protein 2 hrdo:gen_id_20312 TCTN1 ENSG00000204852 26113 609863 Q2MV58 FLJ21127 JBTS13 TECT1 tectonic family member 1 hrdo:gen_id_20313 MAK ENSG00000111837 MAK 6816 154235 P20794 dJ417M14.2 male germ cell-associated kinase hrdo:gen_id_20394 NBEAL2 ENSG00000160796 31928 614169 Q6ZNJ1 KIAA0540 Neurobeachin-like 2 hrdo:gen_id_20395 DOCK6 ENSG00000130158 DOCK6 19189 614194 Q96HP0 Q96HP0 KIAA1395 ZIR1 Dedicator of cytokinesis 6 hrdo:gen_id_20396 MSTN ENSG00000138379 MSTN 4223 601788 O14793 GDF8 Growth differentiation factor 8 Myostatin hrdo:gen_id_20397 TGM6 ENSG00000166948 TGM6 16255 613900 O95932 TGM3L TGY transglutaminase 3-like Transglutaminase 6 hrdo:gen_id_20398 NOP56 ENSG00000101361 NOL5A 15911 614154 O00567 O00567 NOL5A nucleolar protein 5A NOP56 ribonucleoprotein homolog (yeast) hrdo:gen_id_20399 CATSPER1 ENSG00000175294 CATSPER1 17116 606389 Q8NEC5 CATSPER Cation channel, sperm associated 1 hrdo:gen_id_20400 B9D2 ENSG00000123810 B9D2 28636 611951 Q9BPU9 Q9BPU9 MGC4093 B9 protein domain 2 hrdo:gen_id_20401 MAN1B1 ENSG00000177239 MAN1B1 6823 604346 Q9UKM7 Q9UKM7 Alpha 1,2-mannosidase ER alpha 1,2-mannosidase Endoplasmic reticulum alpha-mannosidase 1 Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1 MANA-ER Man9GlcNAc2-specific processing alpha-mannosidase Mannosidase, alpha, class 1B, member 1 hrdo:gen_id_20402 MED23 ENSG00000112282 MED23 2372 605042 Q9ULK4 Q9ULK4 CRSP130 DRIP130 Sur2 Mediator complex subunit 23 hrdo:gen_id_20403 KIF1A ENSG00000130294 KIF1A 888 601255 Q12756 UNC104 Kinesin family member 1A hrdo:gen_id_20404 CDON ENSG00000064309 CDON 17104 608707 Q4KMG0 Q4KMG0 CDO ORCAM Cdon homolog (mouse) hrdo:gen_id_20405 DNAJC5 ENSG00000101152 DNAJC5 16235 611203 Q9H3Z4 Q9H3Z4 DNAJC5A FLJ00118 FLJ13070 DnaJ (Hsp40) homolog, subfamily C, member 5 hrdo:gen_id_20406 CYP24A1 ENSG00000019186 CYP24A1 2602 126065 Q07973 Q07973 CP24 P450-CC24 Cytochrome P450, family 24, subfamily A, polypeptide 1 hrdo:gen_id_20426 ALG11 ENSG00000253710 ALG11 Q2TAA5 32456 613666 KIAA0266 Asparagine-linked glycosylation 11, alpha-1,2-mannosyltransferase homolog (yeast) hrdo:gen_id_20427 TUBB1 ENSG00000101162 TUBB1 16257 612901 Q9H4B7 Q9H4B7 Class VI beta-tubulin Tubulin, beta 1 class VI hrdo:gen_id_20429 SQSTM1 ENSG00000161011 SQSTM1 11280 601530 Q13501 Q13501 A170 p60 p62 p62B Sequestosome 1 hrdo:gen_id_20432 LCK ENSG00000182866 LCK 6524 153390 P06239 P06239 Lymphocyte-specific protein tyrosine kinase hrdo:gen_id_20434 CD320 ENSG00000167775 CD320 16692 606475 Q9NPF0 8D6 8D6 antigen 8D6A CD320 molecule hrdo:gen_id_20457 DAG1 ENSG00000173402 DAG1 2666 128239 Q14118 156DAG A3a AGRNR DAG alpha-dystroglycan beta-dystroglycan dystrophin-associated glycoprotein-1 Dystroglycan 1 (dystrophin-associated glycoprotein 1) hrdo:gen_id_20459 PLIN1 ENSG00000166819 PLIN1 9076 170290 O60240 O60240 Perilipin 1 hrdo:gen_id_20466 ERLIN2 ENSG00000147475 ERLIN2 1356 611605 O94905 C8orf2 NET32 SPFH2 ER lipid raft associated 2 hrdo:gen_id_20471 COQ6 ENSG00000119723 COQ6 20233 614647 Q9Y2Z9 CGI-10 Coenzyme Q6 homolog, monooxygenase (S. cerevisiae) hrdo:gen_id_20474 DDX11 ENSG00000013573 DDX11 2736 601150 Q96FC9 Q96FC9 CHL1 CHL1-like helicase homolog (S. cerevisiae) CHLR1 KRG2 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 hrdo:gen_id_20477 BANF1 ENSG00000175334 BANF1 17397 603811 O75531 O75531 BAF Barrier to autointegration factor 1 hrdo:gen_id_20479 IMPAD1 ENSG00000104331 IMPAD1 26019 614010 Q9NX62 IMPA3 Inositol monophosphatase domain containing 1 hrdo:gen_id_20483 GOSR2 ENSG00000108433 GOSR2 4431 604027 O14653 O14653 Bos1 GS27 Golgi SNAP receptor complex member 2 hrdo:gen_id_20487 PIGN ENSG00000197563 PIGN 8967 606097 O95427 O95427 MDC4 PIG-N Phosphatidylinositol glycan anchor biosynthesis, class N hrdo:gen_id_20489 LAMC3 ENSG00000050555 LAMC3 6494 604349 Q9Y6N6 Q9Y6N6 Laminin, gamma 3 hrdo:gen_id_20492 FZD6 ENSG00000164930 FZD6 4044 234 603409 O60353 O60353 Hfz6 Frizzled family receptor 6 hrdo:gen_id_20494 PLDN ENSG00000104164 PLDN 8549 604310 Q9UL45 Q9UL45 Pallidin homolog (mouse) hrdo:gen_id_20496 CHKB ENSG00000100288 CHKB 1938 612395 Q9Y259 CHETK Choline kinase beta hrdo:gen_id_20541 UBQLN2 ENSG00000188021 UBQLN2 12509 300264 Q9UHD9 CHAP1/DSK2 Chap1 Dsk2 N4BP4 NEDD4 binding protein 4 PLIC-2 PLIC2 RIHFB2157 Ubiquilin 2 hrdo:gen_id_20542 POMP ENSG00000132963 POMP 20330 613386 Q9Y244 HSPC014 UMP1 proteassemblin Proteasome maturation protein hrdo:gen_id_20543 IL36RN ENSG00000136695 IL36RN 15561 605507 Q9UBH0 FIL1 FIL1(DELTA) FIL1D IL-1 related protein 3 IL-1F5 IL1HY1 IL1L1 IL1RP3 IL36RA MGC29840 family of interleukin 1-delta interleukin-1 HY1 interleukin-1 receptor antagonist homolog 1 Interleukin 36 receptor antagonist hrdo:gen_id_20544 AKT1 ENSG00000142208 AKT1 391 164730 P31749 P31749 AKT PKB PRKBA RAC V-akt murine thymoma viral oncogene homolog 1 hrdo:gen_id_20545 ASXL1 ENSG00000171456 ASXL1 18318 612990 Q8IXJ9 Additional sex combs like 1 (Drosophila) hrdo:gen_id_20546 HS6ST1 ENSG00000136720 HS6ST1 5201 604846 O60243 Heparan sulfate 6-O-sulfotransferase 1 hrdo:gen_id_20547 EFNA4 ENSG00000243364 EFNA4 3224 601380 P52798 LERK4 Ephrin-A4 hrdo:gen_id_20548 NDE1 ENSG00000072864 NDE1 17619 609449 Q9NXR1 Q9NXR1 NUDE NudE nuclear distribution gene E homolog 1 (A. nidulans) hrdo:gen_id_20549 BLVRA ENSG00000106605 BLVRA 1062 109750 P53004 P53004 Biliverdin reductase A hrdo:gen_id_20550 NAA10 ENSG00000102030 ARD1A 18704 300013 P41227 ARD1 ARD1A DXS707 TE2 N(alpha)-acetyltransferase 10, NatA catalytic subunit hrdo:gen_id_20551 HBD ENSG00000223609 HBD 4829 142000 P02042 P02042 Hemoglobin, delta hrdo:gen_id_20552 XPNPEP2 ENSG00000122121 XPNPEP2 12823 300145 O43895 X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound hrdo:gen_id_20553 NODAL ENSG00000156574 NODAL 7865 601265 Q96S42 Q96S42 Nodal homolog (mouse) hrdo:gen_id_20554 DLL1 ENSG00000198719 DLL1 2908 606582 O00548 O00548 Delta-like 1 (Drosophila) hrdo:gen_id_20558 GRIN1 ENSG00000176884 GRIN1 4584 138249 Q05586 Q05586 NMDAR1 Glutamate receptor, ionotropic, N-methyl D-aspartate 1 hrdo:gen_id_20559 VANGL2 ENSG00000162738 VANGL2 15511 600533 Q9ULK5 KIAA1215 LPP1 LTAP Loop-tail-associated protein MGC119403 MGC119404 STB1 STBM STBM1 Strabismus Vang, van gogh-like 2 Vang-like 2 (van gogh, Drosophila) hrdo:gen_id_20570 IL28B ENSG00000197110 IL28B 18365 607402 Q8IZI9 IFNL3 IL-28B IL28C Interleukin 28B (interferon, lambda 3) hrdo:gen_id_20572 ITPA ENSG00000125877 ITPA 6176 147520 Q9BY32 C20orf37 HLC14-06-P dJ794I6.3 Inosine triphosphatase (nucleoside triphosphate pyrophosphatase) hrdo:gen_id_20574 CYP1A2 ENSG00000140505 CYP1A2 2596 124060 P05177 P05177 CP12 Cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2 P3-450 Cytochrome P450, family 1, subfamily A, polypeptide 2 hrdo:gen_id_20577 B3GAT3 ENSG00000149541 B3GAT3 923 606374 O94766 GlcAT-I Beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) hrdo:gen_id_20579 IL11RA ENSG00000137070 IL11RA 5967 600939 Q14626 Interleukin 11 receptor, alpha hrdo:gen_id_20586 DYNC1H1 ENSG00000197102 DYNC1H1 2961 600112 Q14204 Q14204 DHC1 DNCH1 DNCL DNECL Dnchc1 Dynein, cytoplasmic, heavy polypeptide 1 HL-3 p22 Dynein, cytoplasmic 1, heavy chain 1 hrdo:gen_id_20588 IGFBP7 ENSG00000163453 IGFBP7 5476 602867 Q16270 FSTL2 IGFBP-7 MAC25 PSF Insulin-like growth factor binding protein 7 hrdo:gen_id_20591 SYT14 ENSG00000143469 SYT14 23143 610949 Q8NB59 FLJ34198 sytXIV Synaptotagmin XIV hrdo:gen_id_20594 ANO10 ENSG00000160746 ANO10 25519 613726 Q9NW15 FLJ10375 MGC47890 SCAR10 TMEM16K Transmembrane protein 16K Anoctamin 10 hrdo:gen_id_20634 EIF4G1 ENSG00000114867 EIF4G1 3296 600495 Q04637 Q04637 EIF4F EIF4G p220 Eukaryotic Translation Initiation Factor 4 Gamma, 1 hrdo:gen_id_20635 VPS35 ENSG00000069329 VPS35 13487 601501 Q96QK1 FLJ10752 MEM3 Vacuolar Protein Sorting 35 Homolog (S. cerevisiae) hrdo:gen_id_20636 PXDN ENSG00000130508 PXDN 14966 605158 Q92626 D2S448 D2S448E KIAA0230 MG50 PRG2 PXN Peroxidasin homolog (Drosophila) hrdo:gen_id_20641 POLR3A ENSG00000148606 POLR3A 30074 614258 O14802 O14802 RPC1 RPC155 hRPC155 Polymerase (RNA) III (DNA directed) Polypeptide A, 155kDa hrdo:gen_id_20642 POLR3B ENSG00000013503 POLR3B 30348 614366 Q9NW08 Q9NW08 FLJ10388 RPC2 Polymerase (RNA) III (DNA directed) Polypeptide B hrdo:gen_id_20643 MOG ENSG00000204655 MOG 7197 159465 Q16653 Myelin Oligodendrocyte Glycoprotein hrdo:gen_id_20645 KAT6B ENSG00000156650 KAT6B 17582 605880 Q8WYB5 MOZ2 MYST4 Morf querkopf K(lysine) Acetyltransferase 6B hrdo:gen_id_20650 ST3GAL3 ENSG00000126091 ST3GAL3 10866 606494 Q11203 Q11203 ST3Gal III ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 3 hrdo:gen_id_20651 ADAMTS18 ENSG00000140873 ADAMTS18 17110 607512 Q8TE60 ADAM Metallopeptidase with thrombospondin type 1 motif, 18 hrdo:gen_id_20655 PSMC3IP ENSG00000131470 PSMC3IP 17928 608665 Q9P2W1 Q9P2W1 PSMC3 Interacting Protein hrdo:gen_id_20656 MIR17HG ENSG00000215417 MIR17HG 23564 609415 Q75NE6 FLJ14178 LINC00048 miR-17-92 Cluster Host Gene (non-protein coding) hrdo:gen_id_20657 ARHGAP24 ENSG00000138639 ARHGAP24 25361 610586 Q8N264 Q8N264 FLJ33877 FilGAP Rho GTPase Activating Protein 24 hrdo:gen_id_20663 FUZ ENSG00000010361 FUZ 26219 610622 Q9BT04 FLJ22688 Fy Fuzzy homolog (Drosophila) hrdo:gen_id_20665 ZC3H14 ENSG00000100722 ZC3H14 20509 613279 Q6PJT7 FLJ11806 NY-REN-37 UKp68 Zinc finger CCCH-type containing 14 hrdo:gen_id_20667 WDR19 ENSG00000157796 WDR19 18340 608151 Q8NEZ3 DYF-2 FLJ23127 IFT144 KIAA1638 ORF26 Oseg6 Pwdmp WD Repeat domain 19 hrdo:gen_id_20668 RPL21 ENSG00000122026 RPL21 10313 603636 P46778 P46778 FLJ27458 L21 MGC104274 MGC104275 MGC71252 Ribosomal protein L21 hrdo:gen_id_20669 UBAC2 ENSG00000134882 UBAC2 20486 Q8NBM4 PHGDHL1 UBA domain containing 2 hrdo:gen_id_20671 TSPY1 ENSG00000258992 TSPY1 12381 480100 Q01534 CT78 Testis specific protein, Y-linked 1 hrdo:gen_id_20672 LINGO1 ENSG00000169783 LINGO1 21205 609791 Q96FE5 Q96FE5 FLJ14594 LERN1 Leucine rich repeat and Ig domain containing 1 hrdo:gen_id_20673 GAS1 ENSG00000180447 GAS1 4165 139185 P54826 Growth arrest-specific 1 hrdo:gen_id_20674 MOCS3 ENSG00000124217 MOCS3 15765 609277 O95396 UBA4 Molybdenum cofactor synthesis 3 hrdo:gen_id_20675 RHD ENSG00000187010 RHD 10009 111680 Q02161 CD240D DIIIc Rh30a Rh4 RhII RhPI Rh blood group, D antigen hrdo:gen_id_20676 C9ORF72 ENSG00000147894 C9orf72 28337 614260 Q96LT7 MGC23980 Chromosome 9 open reading frame 72 hrdo:gen_id_20677 CACNA1H ENSG00000196557 CACNA1H 1395 607904 O95180 O95180 Cav3.2 Calcium channel, voltage-dependent, T type, alpha 1H subunit hrdo:gen_id_20678 AGK ENSG00000006530 AGK 21869 610345 Q53H12 FLJ10842 MULK Multiple substrate lipid kinase Acylglycerol kinase hrdo:gen_id_20679 HIRA ENSG00000100084 HIRA 4916 600237 P54198 DGCR1 DiGeorge critical region gene 1 TUP1 TUPLE1 HIR histone cell cycle regulation defective homolog A (S. cerevisiae) hrdo:gen_id_20681 CYP4F2 ENSG00000186115 CYP4F2 2645 604426 P78329 P78329 Cytochrome P450, subfamily IVF, polypeptide 2 Cytochrome P450, family 4, subfamily F, polypeptide 2 hrdo:gen_id_20682 CFHR1 ENSG00000244414 CFHR1 4888 134371 Q03591 CFHL CFHL1 CFHL1P CFHR1P Complement factor H-related 1 pseudogene FHR1 H factor (complement)-like 1 H factor (complement)-like 2 H36-1 H36-2 HFL1 HFL2 Complement factor H-related 1 hrdo:gen_id_20683 CFHR3 ENSG00000116785 CFHR3 16980 605336 Q02985 Q02985 CFHL3 Complement factor H related 3 DOWN16 FHR-3 FHR3 HLF4 Complement factor H-related 3 hrdo:gen_id_20684 CFHR5 ENSG00000134389 CFHR5 24668 608593 Q9BXR6 CFHL5 FHR-5 FHR5 Factor H related protein 5 Complement factor H-related 5 hrdo:gen_id_20685 MAGI2 ENSG00000187391 MAGI2 18957 606382 Q86UL8 Q86UL8 ACVRIP1 AIP1 ARIP1 KIAA0705 MAGI-2 Membrane associated guanylate kinase, WW and PDZ domain containing 2 hrdo:gen_id_20686 TXNRD2 ENSG00000184470 TXNRD2 18155 606448 Q9NNW7 Selenoprotein Z TR TR3 TRXR2 Thioredoxin reductase beta Thioredoxin reductase 2 hrdo:gen_id_20689 TMEM237 ENSG00000155755 TMEM237 14432 614423 Q96Q45 JBTS14 Transmembrane protein 237 hrdo:gen_id_20690 KIF22 ENSG00000079616 KIF22 6391 603213 Q14807 Q14807 Kid OBP-1 OBP-2 Kinesin family member 22 hrdo:gen_id_20691 PLA2G5 ENSG00000127472 PLA2G5 9038 601192 P39877 Phospholipase A2, group V hrdo:gen_id_20693 BMP1 ENSG00000168487 BMP1 1067 112264 P13497 P13497 PCOLC procollagen C-endopeptidase Bone morphogenetic protein 1 hrdo:gen_id_20694 KHDC3L ENSG00000203908 ECAT1 33699 611687 Q587J8 C6orf221 Chromosome 6 open reading frame 221 ECAT1 ES cell associated transcript 1 KH domain containing 3-like, subcortical maternal complex member hrdo:gen_id_20695 RBP3 ENSG00000107618 P10745 RBP3 9921 180290 D10S64 D10S65 D10S66 Retinol-binding protein 3, interstitial Retinol binding protein 3, interstitial hrdo:gen_id_20696 C8ORF37 ENSG00000156172 C8orf37 27232 614477 Q96NL8 FLJ30600 Chromosome 8 open reading frame 37 hrdo:gen_id_20697 NOS1AP ENSG00000198929 NOS1AP 16859 605551 O75052 C-terminal PDZ domain ligand of neuronal nitric oxide synthase CAPON KIAA0464 Nitric oxide synthase 1 (neuronal) adaptor protein hrdo:gen_id_20706 GRIN2A ENSG00000183454 GRIN2A 4585 138253 Q12879 Q12879 GluN2A NMDAR2A Glutamate receptor, ionotropic, N-methyl D-aspartate 2A hrdo:gen_id_20708 ADK ENSG00000156110 ADK 257 102750 P55263 P55263 AK Adenosine 5'-phosphotransferase Adenosine kinase hrdo:gen_id_20710 ALDH6A1 ENSG00000119711 ALDH6A1 7179 603178 Q02252 Q02252 MMSDH Aldehyde dehydrogenase 6 family, member A1 hrdo:gen_id_20716 ROBO2 ENSG00000185008 ROBO2 10250 602431 Q9HCK4 Q9HCK4 KIAA1568 Roundabout (axon guidance receptor, Drosophila) homolog 2 Roundabout, axon guidance receptor, homolog 2 (Drosophila) hrdo:gen_id_20717 SOX17 ENSG00000164736 SOX17 18122 610928 Q9H6I2 SRY (sex determining region Y)-box 17 hrdo:gen_id_20724 SMARCAD1 ENSG00000163104 SMARCAD1 18398 612761 Q9H4L7 DKFZP762K2015 DKFZp762K2015 ETL1 KIAA1122 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 hrdo:gen_id_20727 LEPREL1 ENSG00000090530 LEPREL1 19317 610341 Q8IVL5 FLJ10718 MLAT4 P3H2 Prolyl 3-hydroxylase 2 Leprecan-like 1 hrdo:gen_id_20732 ACSF3 ENSG00000176715 ACSF3 27288 614245 Q4G176 Acyl-CoA synthetase family member 3 hrdo:gen_id_20736 NDUFAF1 ENSG00000137806 NDUFAF1 18828 606934 Q9Y375 CGI-65 CIA30 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 1 hrdo:gen_id_20738 BAP1 ENSG00000163930 BAP1 950 603089 Q92560 KIAA0272 UCHL2 hucep-6 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) hrdo:gen_id_20742 C19ORF12 ENSG00000131943 C19orf12 25443 614297 Q9NSK7 DKFZP762D096 MGC10922 Chromosome 19 open reading frame 12 hrdo:gen_id_20744 NFU1 ENSG00000169599 NFU1 16287 608100 Q9UMS0 CGI-33 HIRA interacting protein 5 HIRIP5 NIFUC NifU NFU1 iron-sulfur cluster scaffold homolog (S. cerevisiae) hrdo:gen_id_20745 BOLA3 ENSG00000163170 BOLA3 24415 613183 Q53S33 BolA-like 3 (E. coli) BolA homolog 3 (E. coli) hrdo:gen_id_20747 CSTA ENSG00000121552 CSTA 2481 184600 P01040 STF1 STFA Cystatin A (stefin A) hrdo:gen_id_20750 NT5E ENSG00000135318 NT5E 8021 129190 P21589 P21589 5' nucleotidase (CD73) CD73 NT5 eN eNT 5'-nucleotidase, ecto (CD73) hrdo:gen_id_20773 GNMT ENSG00000124713 GNMT 4415 606628 Q14749 Glycine N-methyltransferase hrdo:gen_id_20778 ZNF711 ENSG00000147180 ZNF711 13128 314990 Q9Y462 CMPX1 ZNF4 ZNF5 ZNF6 Zfp711 Zinc finger protein 6 Zinc finger protein 6 (CMPX1) dJ75N13.1 Zinc finger protein 711 hrdo:gen_id_20779 HDAC8 ENSG00000147099 HDAC8 13315 300269 Q9BY41 Q9BY41 HDACL1 Histone deacetylase-like 1 RPD3 Histone deacetylase 8 hrdo:gen_id_20780 MAX ENSG00000125952 MAX 6913 154950 P61244 P61244 MAX protein bHLHd4 bHLHd5 bHLHd6 bHLHd7 bHLHd8 MYC associated factor X hrdo:gen_id_20781 KDM6A ENSG00000147050 KDM6A 12637 300128 O15550 UTX Ubiquitously transcribed tetratricopeptide repeat, X chromosome Lysine (K)-specific demethylase 6A hrdo:gen_id_20786 SIGMAR1 ENSG00000147955 OPRS1 8157 601978 Q99720 OPRS1 Opioid receptor, sigma 1 SR-BP1 Sigma non-opioid intracellular receptor 1 hrdo:gen_id_20787 PRRT2 ENSG00000167371 PRRT2 30500 614386 Q7Z6L0 DKFZp547J199 FLJ25513 IFITMD1 Interferon induced transmembrane protein domain containing 1 Proline-rich transmembrane protein 2 hrdo:gen_id_20788 NDUFA9 ENSG00000139180 NDUFA9 7693 603834 Q16795 CI-39k Complex I 39kDa subunit NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9 (39kD) NDUFS2L SDR22E1 Short chain dehydrogenase/reductase family 22E, member 1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa hrdo:gen_id_20789 DLX5 ENSG00000105880 DLX5 2918 600028 P56178 Distal-less homeo box Distal-less homeobox 5 hrdo:gen_id_20790 ABCB6 ENSG00000115657 ABCB6 47 605452 Q9NP58 ATP-binding cassette half-transporter EST45597 MTABC3 umat ATP-binding cassette, sub-family B (MDR/TAP), member 6 hrdo:gen_id_20791 RIPK4 ENSG00000183421 RIPK4 496 605706 P57078 ANKK2 ANKRD3 Ankyrin repeat domain 3 DIK PKC-delta-interacting protein kinase PKK Protein kinase C-associated kinase RIP4 Receptor-interacting serine-threonine kinase 4 hrdo:gen_id_20792 COL4A2 ENSG00000134871 COL4A2 2203 120090 P08572 Canstatin Collagen type IV alpha 2 DKFZp686I14213 FLJ22259 Collagen, type IV, alpha 2 hrdo:gen_id_20793 EZH2 ENSG00000106462 EZH2 3527 601573 Q15910 ENX-1 EZH1 Enhancer of zeste (Drosophila) homolog 2 KMT6 KMT6A Enhancer of zeste homolog 2 (Drosophila) hrdo:gen_id_20794 SLCO2A1 ENSG00000174640 SLCO2A1 10955 601460 Q92959 MATR1 Matrin F/G 1 OATP2A1 PGT SLC21A2 Solute carrier family 21 (prostaglandin transporter), member 2 Solute carrier organic anion transporter family, member 2A1 hrdo:gen_id_20795 COX14 ENSG00000178449 C12orf62 28216 614478 Q96I36 C12orf62 Chromosome 12 open reading frame 62 MGC14288 COX14 cytochrome c oxidase assembly homolog (S. cerevisiae) hrdo:gen_id_20796 GATA6 ENSG00000141448 GATA6 4174 601656 Q92908 GATA-binding protein 6 GATA binding protein 6 hrdo:gen_id_20797 DNASE1L3 ENSG00000163687 DNASE1L3 2959 602244 Q13609 DNAS1L3 DNase gamma LSD Deoxyribonuclease I-like 3 hrdo:gen_id_20798 BTNL2 ENSG00000204290 BTNL2 1142 606000 Q9UIR0 BTL-II HSBLMHC1 Butyrophilin-like 2 (MHC class II associated) hrdo:gen_id_20799 FIGLA ENSG00000183733 FIGLA 24669 608697 Q6QHK4 Factor in the germline alpha bHLHc8 Folliculogenesis specific basic helix-loop-helix hrdo:gen_id_20800 NDUFB9 ENSG00000147684 NDUFB9 7704 601445 Q9Y6M9 B22 Complex I B22 subunit LYRM3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9 (22kD, B22) UQOR22 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa hrdo:gen_id_20801 BHLHA9 ENSG00000205899 35126 Q7RTU4 BHLHF42 bHLHa9 Basic helix-loop-helix family, member a9 hrdo:gen_id_20802 HOXB13 ENSG00000159184 HOXB13 5112 604607 Q92826 Homeo box B13 Homeobox B13 hrdo:gen_id_20803 TSHZ1 ENSG00000179981 TSHZ1 10669 614427 Q6ZSZ6 NY-CO-33 SDCCAG33 Serologically defined colon cancer antigen 33 TSH1 Teashirt family zinc finger 1 Teashirt zinc finger 1 Teashirt zinc finger homeobox 1 hrdo:gen_id_20804 MEGF10 MEGF10 29634 612453 Q96KG7 KIAA1780 Multiple EGF-like-domains 10 hrdo:gen_id_20805 CEP63 CEP63 25815 614724 Q96MT8 FLJ13386 Centrosomal protein 63kDa hrdo:gen_id_20806 THRA THRA 11796 190120 P10827 AR7 EAR-7.1/EAR-7.2 ERBA ERBA1 NR1A1 THRA1 THRA2 THRA3 Thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog) Thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian) Thyroid hormone receptor, alpha hrdo:gen_id_20807 BICC1 BICC1 19351 614295 Q9H694 Bicaudal C homolog 1 (Drosophila) hrdo:gen_id_20808 AKR1C2 AKR1C2 385 600450 P52895 3-alpha hydroxysteroid dehydrogenase, type III BABP Bile acid binding protein DD DD2 DDH2 Dihydrodiol dehydrogenase 2 HAKRD MCDR2 Aldo-keto reductase family 1, member C2 hrdo:gen_id_20809 AKR1C4 AKR1C4 387 600451 P17516 3-alpha hydroxysteroid dehydrogenase, type I 3-alpha-HSD C11 CDR CHDR Chlordecone reductase DD4 Dihydrodiol dehydrogenase 4 HAKRA MGC22581 Aldo-keto reductase family 1, member C4 hrdo:gen_id_20810 SMARCA2 SMARCA2 11098 600014 P51531 BAF190 BRM SNF2 SNF2L2 SNF2LA SWI2 Sth1p hBRM hSNF2a SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 hrdo:gen_id_20811 SRCAP SRCAP 16974 611421 Q6ZRS2 DOMO1 Domino homolog 1 (Drosophila) EAF1 KIAA0309 SWR1 Swi2/Snf2-related ATPase homolog (S. cerevisiae) Snf2-related CREBBP activator protein hrdo:gen_id_20812 NDUFB3 NDUFB3 7698 603839 O43676 B12 Complex I B12 subunit NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3 (12kD, B12) NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa hrdo:gen_id_20813 CHRDL1 CHRDL1 29861 300350 Q9BU40 CHL NRLN1 Chordin-like 1 hrdo:gen_id_20814 GPR179 GPR179 31371 614515 Q6PRD1 GPR158-like 1 GPR158L1 G protein-coupled receptor 179 hrdo:gen_id_20815 RHBDF2 RHBDF2 20788 614404 Q6PJF5 FLJ22341 RHBDL5 RHBDL6 Rhomboid, veinlet-like 6 (Drosophila) Rhomboid 5 homolog 2 (Drosophila) hrdo:gen_id_20816 KIF11 KIF11 6388 148760 P52732 Eg5 HKSP KNSL1 Kinesin-like 1 TRIP5 Kinesin family member 11 hrdo:gen_id_20817 EFTUD2 EFTUD2 30858 603892 Q15029 Snrp116 Snu114 U5 snRNP specific protein, 116 kD U5-116KD Elongation factor Tu GTP binding domain containing 2 hrdo:gen_id_20818 TICAM1 TICAM1 18348 607601 Q8IUC6 MGC35334 PRVTIRB TICAM-1 TRIF Toll-like receptor adaptor molecule 1 hrdo:gen_id_20819 TRAF3 TRAF3 12033 601896 Q13114 CAP-1 CD40bp CRAF1 LAP1 TNF receptor-associated factor 3 hrdo:gen_id_20820 SLCO1B3 SLCO1B3 10961 605495 Q9NPD5 OATP1B3 OATP8 SLC21A8 Solute carrier family 21 (organic anion transporter), member 8 Solute carrier organic anion transporter family, member 1B3 hrdo:gen_id_20821 WIPF1 WIPF1 12736 602357 O43516 WASPIP WIP Wiskott-Aldrich syndrome protein interacting protein WAS/WASL interacting protein family, member 1 hrdo:gen_id_20822 KISS1 KISS1 6341 603286 Q15726 KiSS-1 metastasis-suppressor hrdo:gen_id_20823 RBBP8 RBBP8 9891 604124 Q99708 CTBP-interacting protein CtIP RIM Retinoblastoma-binding protein 8 SCKL2 Seckel syndrome 2 Retinoblastoma binding protein 8 hrdo:gen_id_20824 TMEM138 TMEM138 26944 614459 Q9NPI0 Transmembrane protein 138 hrdo:gen_id_20825 CEP41 CEP41 12370 610523 Q9BYV8 DKFZp762H1311 FLJ22445 JBTS15 TSGA14 Testis specific, 14 Centrosomal protein 41kDa hrdo:gen_id_20826 DIS3L2 DIS3L2 28648 614184 Q8IYB7 FAM6A FLJ36974 Family with sequence similarity 6, member A MGC42174 DIS3 mitotic control homolog (S. cerevisiae)-like 2 hrdo:gen_id_20827 SLC20A2 SLC20A2 10947 158378 Q08357 GLVR2 Glvr-2 MLVAR PiT-2 Solute carrier family 20 (phosphate transporter), member 2 hrdo:gen_id_20828 CLMP ASAM 24039 611693 Q9H6B4 ACAM ASAM Adipocyte adhesion molecule Adipocyte-specific adhesion molecule Coxsackie- and adenovirus receptor-like membrane protein FLJ22415 CXADR-like membrane protein hrdo:gen_id_20829 DST DST 1090 113810 Q03001 BP240 BPA BPAG1 Bullous pemphigoid antigen 1, 230/240kDa CATX-15 FLJ13425 FLJ21489 FLJ30627 FLJ32235 KIAA0728 MACF2 Dystonin hrdo:gen_id_20831 CACNG2 CACNG2 1406 602911 Q9Y698 MGC138502 MGC138504 Stargazin Calcium channel, voltage-dependent, gamma subunit 2 hrdo:gen_id_20832 EPB41L1 EPB41L1 3378 602879 Q9H4G0 KIAA0338 Erythrocyte membrane protein band 4.1-like 1 hrdo:gen_id_20833 ARID1B ARID1B 18040 614556 Q8NFD5 6A3-5 BAF250b DAN15 ELD/OSA1 KIAA1235 p250R AT rich interactive domain 1B (SWI1-like) hrdo:gen_id_20834 ARID1A ARID1A 11110 603024 O14497 AT rich interactive domain 1A (SWI- like) B120 BAF250 BAF250a C10rf4 C1orf4 P270 SMARCF1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1 AT rich interactive domain 1A (SWI-like) hrdo:gen_id_20835 TBXA2R TBXA2R 11608 188070 P21731 Thromboxane A2 receptor hrdo:gen_id_20848 KEL KEL 6308 613883 P23276 CD238 ECE3 Kell blood group Kell blood group, metalloendopeptidase Kell blood group, metallo-endopeptidase hrdo:gen_id_20849 CDKN1A CDKN1A 1784 116899 P38936 CAP20 CDKN1 CIP1 P21 SDI1 WAF1 p21CIP1 p21Cip1/Waf1 Cyclin-dependent kinase inhibitor 1A (p21, Cip1) hrdo:gen_id_20850 CDKN2B CDKN2B 1788 600431 P42772 CDK4I INK4B MTS2 P15 TP15 p15INK4b Cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) hrdo:gen_id_20851 CDKN2C CDKN2C 1789 603369 P42773 INK4C p18 Cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) hrdo:gen_id_20852 SH2B1 SH2B1 30417 608937 Q9NRF2 FLJ30542 SH2-B homolog SH2B SH2B adaptor protein 1 hrdo:gen_id_20853 LETM1 LETM1 6556 604407 O95202 Mdm38 homolog (yeast) Leucine zipper-EF-hand containing transmembrane protein 1 hrdo:gen_id_20884 MAFB MAFB 6408 608968 Q9Y5Q3 KRML Kreisler (mouse) maf-related leucine zipper homolog V-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian) hrdo:gen_id_20890 SCN8A SCN8A 10596 600702 Q9UQD0 CerIII MED NaCh6 Nav1.6 PN4 Sodium channel, voltage gated, type VIII, alpha polypeptide Sodium channel, voltage gated, type VIII, alpha subunit hrdo:gen_id_20910 TRPV3 TRPV3 18084 607066 Q8NET8 VRL3 Transient receptor potential cation channel, subfamily V, member 3 hrdo:gen_id_20911 MCM4 MCM4 6947 602638 P33991 CDC21 CDC54 MCM4 minichromosome maintenance deficient 4 (S. cerevisiae) MGC33310 P1-Cdc21 hCdc21 Minichromosome maintenance complex component 4 hrdo:gen_id_20912 SEMA3A SEMA3A 10723 603961 Q14563 Coll-1 Hsema-I SEMA1 SEMAD SemD Sema III Sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A hrdo:gen_id_21068 CEP135 CEP135 29086 611423 Q66GS9 CEP4 Centrosomal protein 4 FLJ13621 KIAA0635 Centrosomal protein 135kDa hrdo:gen_id_21069 DNAJB6 DNAJB6 14888 611332 O75190 MRJ DnaJ (Hsp40) homolog, subfamily B, member 6 hrdo:gen_id_21070 DNAAF3 C19orf51 30492 614566 Q8N9W5 C19orf51 Chromosome 19 open reading frame 51 FLJ36139 FLJ40069 PF22 Dynein, axonemal, assembly factor 3 hrdo:gen_id_21071 RBM8A RBM8A 9905 605313 Q9Y5S9 BOV-1A BOV-1B BOV-1C RBM8 RBM8B Y14 ZNRP RNA binding motif protein 8A hrdo:gen_id_21073 KCNJ8 KCNJ8 6269 600935 Q15842 Kir6.1 Potassium inwardly-rectifying channel, subfamily J, member 8 hrdo:gen_id_21074 RAD51D RAD51L3 9823 602954 O75771 DNA repair protein RAD51 homolog 4 HsTRAD R51H3 RAD51 (S. cerevisiae)-like 3 RAD51-like 3 (S. cerevisiae) RAD51L3 Recombination repair protein Trad RAD51 homolog D (S. cerevisiae) hrdo:gen_id_21075 OPLAH OPLAH 8149 614243 5-Opase OPLA 5-oxoprolinase (ATP-hydrolysing) hrdo:gen_id_21076 ASCC1 ASCC1 24268 614215 Q8N9N2 ASC1p50 CGI-18 Em:AC022392.3 Activating signal cointegrator 1 complex subunit 1 hrdo:gen_id_21077 CTHRC1 CTHRC1 18831 610635 Q96CG8 Collagen triple helix repeat containing 1 hrdo:gen_id_21078 MSR1 MSR1 7376 153622 P21757 CD204 SCARA1 Macrophage scavenger receptor 1 hrdo:gen_id_21079 ATOH7 ATOH7 13907 609875 Q8N100 Math5 bHLHa13 Atonal homolog 7 (Drosophila) hrdo:gen_id_21081 UCP2 UCP2 12518 601693 P55851 SLC25A8 Uncoupling protein 2 (mitochondrial, proton carrier) hrdo:gen_id_21082 CHRM3 CHRM3 1952 118494 P20309 Acetylcholine receptor, muscarinic 3 Cholinergic receptor, muscarinic 3 hrdo:gen_id_21083 IDH1 IDH1 5382 147700 O75874 Isocitrate dehydrogenase 1 (NADP+), soluble hrdo:gen_id_21084 RFX6 RFX6 21478 612659 Q8HWS3 MGC33442 RFXDC1 Regulatory factor X domain containing 1 dJ955L16.1 Regulatory factor X, 6 hrdo:gen_id_21085 CYP26B1 CYP26B1 20581 605207 Q9NR63 P450RAI-2 Cytochrome P450, family 26, subfamily B, polypeptide 1 hrdo:gen_id_21086 MIR184 MIR184 31555 613146 MIRN184 hsa-mir-184 MicroRNA 184 hrdo:gen_id_21087 TPK1 TPK1 17358 606370 Q9H3S4 HTPK1 PP20 Placental protein 20 Thiamine diphosphokinase Thiamine kinase Thiamine pyrophosphokinase 1 Thiamin pyrophosphokinase 1 hrdo:gen_id_21088 ADAM17 ADAM17 195 603639 P78536 CD156B TACE Tumor necrosis factor, alpha, converting enzyme cSVP ADAM metallopeptidase domain 17 hrdo:gen_id_21089 C5ORF42 C5orf42 25801 614571 Q9H799 FLJ13231 Chromosome 5 open reading frame 42 hrdo:gen_id_21090 ROGDI ROGDI 29478 614574 Q9GZN7 FLJ22386 Rogdi homolog (Drosophila) hrdo:gen_id_21091 MTAP MTAP 7413 156540 Q13126 MSAP c86fus Methylthioadenosine phosphorylase hrdo:gen_id_21092 PDE4D PDE4D 8783 600129 Q08499 DPDE3 Phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3) Phosphodiesterase E3 dunce homolog (Drosophila) Phosphodiesterase 4D, cAMP-specific hrdo:gen_id_21093 PIGL PIGL 8966 605947 Q9Y2B2 N-acetylglucosaminylphosphatidylinositol deacetylase Phosphatidylinositol glycan, class L Phosphatidylinositol glycan anchor biosynthesis, class L hrdo:gen_id_21094 SKIV2L SKIV2L 10898 600478 Q15477 170A DDX13 HLP SKI2W SKIV2 Superkiller viralicidic activity 2 (S. cerevisiae homolog)-like Superkiller viralicidic activity 2-like (S. cerevisiae) hrdo:gen_id_21095 XRCC2 XRCC2 12829 600375 O43543 RAD51-like X-ray repair complementing defective repair in Chinese hamster cells 2 hrdo:gen_id_21096 SNX10 SNX10 14974 614780 Q9Y5X0 Sorting nexin 10 hrdo:gen_id_21097 MTFMT MTFMT 29666 611766 Q96DP5 FMT1 Mitochondrial methionyl-tRNA formyltransferase hrdo:gen_id_21098 AKT3 AKT3 393 611223 Q9Y243 PKBG PRKBG RAC-gamma v-akt murine thymoma viral oncogene homolog 3 (protein kinase B, gamma) hrdo:gen_id_21101 PIK3R5 30035 611317 Q8WYR1 P101-PI3K p101 Phosphoinositide-3-kinase, regulatory subunit 5 hrdo:gen_id_21102 CACNA2D1 CACNA2D1 1399 114204 P54289 CACNA2 CACNL2A MHS3 Calcium channel, voltage-dependent, alpha 2/delta subunit 1 hrdo:gen_id_21154 ALG10 ALG10 23162 603313 Q5BKT4 Asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast) DIE2 Derepression of ITR1 expression 2 homolog (S. cerevisiae) FLJ14751 Asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe) hrdo:gen_id_21155 IFT140 IFT140 29077 614620 Q96RY7 KIAA0590 WD and tetratricopeptide repeats 2 WDTC2 gs114 Intraflagellar transport 140 homolog (Chlamydomonas) hrdo:gen_id_21156 NSUN2 NSUN2 25994 610916 Q08J23 FLJ20303 Misu Myc-induced SUN-domain-containing protein NOL1/NOP2/Sun domain family, member 2 NOP2/Sun domain family, member 2 TRM4 tRNA methyltransferase 4 homolog (S. cerevisiae) NOP2/Sun RNA methyltransferase family, member 2 hrdo:gen_id_21157 GNAI3 GNAI3 4387 139370 P08754 87U6 Guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 hrdo:gen_id_21158 PLCB4 PLCB4 9059 600810 Q15147 Phospholipase C, beta 4 hrdo:gen_id_21159 SF3B4 SF3B4 10771 605593 Q15427 Hsh49 SAP49 SF3b49 Splicing factor 3b, subunit 4, 49kD Splicing factor 3b, subunit 4, 49kDa hrdo:gen_id_21160 ISPD ISPD 37276 614631 A4D126 4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis) IspD Nip Notch1-induced protein hCG_1745121 Isoprenoid synthase domain containing hrdo:gen_id_21161 UVSSA KIAA1530 29304 614632 Q2YD98 KIAA1530 UV-stimulated scaffold protein A hrdo:gen_id_21162 KCND3 KCND3 6239 605411 Q9UK17 KSHIVB Kv4.3 Potassium voltage-gated channel, Shal-related subfamily, member 3 hrdo:gen_id_21163 IRGM IRGM 29597 608212 A1A4Y4 IFI1 IRGM1 Immunity-related GTPase family, M1 LRG-47 LRG47 Immunity-related GTPase family, M hrdo:gen_id_21164 LRRFIP2 LRRFIP2 6703 614043 Q9Y608 HUFI-2 Leucine rich repeat (in FLII) interacting protein 2 hrdo:gen_id_21165 LRSAM1 LRSAM1 25135 610933 Q6UWE0 FLJ31641 Leucine rich repeat and sterile alpha motif containing 1 hrdo:gen_id_21166 SMOC2 SMOC2 20323 607223 Q9H3U7 SMAP2 SPARC related modular calcium binding 2 hrdo:gen_id_21167 GRIP1 GRIP1 18708 604597 Q9Y3R0 Glutamate receptor interacting protein 1 hrdo:gen_id_21168 LRBA LRBA 1742 606453 P50851 BGL CDC4L LAB300 LBA LPS-responsive vesicle trafficking, beach and anchor containing hrdo:gen_id_21169 PIEZO1 FAM38A 28993 611184 Q92508 FAM38A Family with sequence similarity 38, member A KIAA0233 Piezo-type mechanosensitive ion channel component 1 hrdo:gen_id_21170 LZTFL1 LZTFL1 6741 606568 Q9NQ48 Leucine zipper transcription factor-like 1 hrdo:gen_id_21171 RAB40AL RAB40AL 25410 300405 P0C0E4 RAR2 RLGP Ras like GTPase RAB40A, member RAS oncogene family-like hrdo:gen_id_21172 CCDC103 CCDC103 32700 614677 Q8IW40 FLJ13094 FLJ34211 PR46b Coiled-coil domain containing 103 hrdo:gen_id_21173 KANSL1 KANSL1 24565 612452 Q7Z3B3 CENP-36 Centromere protein 36 DKFZP727C091 KIAA1267 MSL1v1 NSL1 KAT8 regulatory NSL complex subunit 1 hrdo:gen_id_21174 EXOSC3 EXOSC3 17944 606489 Q9NQT5 CGI-102 CGI-102 protein Exosome component Rrp40 RRP40 Rrp40p hRrp-40 hRrp40p p10 Exosome component 3 hrdo:gen_id_21175 GREM1 GREM1 2001 603054 O60565 CKTSF1B1 Cysteine knot superfamily 1, BMP antagonist 1 DAND2 DRM Gremlin Gremlin 1, cysteine knot superfamily, homolog (Xenopus laevis) Gremlin 1 hrdo:gen_id_21176 KLHL3 KLHL3 6354 605775 Q9UH77 KIAA1129 Kelch (Drosophila)-like 3 Kelch-like 3 (Drosophila) hrdo:gen_id_21177 CUL3 CUL3 2553 603136 Q13618 Cullin 3 hrdo:gen_id_21178 HARS HARS 4816 142810 P12081 Histidine tRNA ligase 1, cytoplasmic Histidyl-tRNA synthetase hrdo:gen_id_21179 PLCG2 PLCG2 9066 600220 P16885 Phospholipase C, gamma 2 (phosphatidylinositol-specific) hrdo:gen_id_21180 CRADD CRADD 2340 603454 P78560 RAIDD RIP-associated ICH1/CED3-homologous protein with death domain CASP2 and RIPK1 domain containing adaptor with death domain hrdo:gen_id_21181 GPD1 GPD1 4455 138420 P21695 Glycerol-3-phosphate dehydrogenase 1 (soluble) hrdo:gen_id_21182 DDOST DDOST 2728 602202 P39656 Dolichyl-diphosphooligosaccharide-protein glycosyltransferase KIAA0115 OST OST48 WBP1 Dolichyl-diphosphooligosaccharide--protein glycosyltransferase hrdo:gen_id_21183 TUBGCP6 TUBGCP6 18127 610053 Q96RT7 DJ402G11.6 GCP6 Gamma-tubulin complex component 6 KIAA1669 Tubulin, gamma complex associated protein 6 hrdo:gen_id_21185 NNT NNT 7863 607878 Q13423 Nicotinamide nucleotide transhydrogenase hrdo:gen_id_21186 FKBP14 FKBP14 18625 614505 Q9NWM8 FK506 binding protein 14 (22 kDa) FKBP22 FLJ20731 FK506 binding protein 14, 22 kDa hrdo:gen_id_21187 PLOD3 PLOD3 9083 603066 O60568 LH3 Lysyl hydroxlase 3 Procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 hrdo:gen_id_21188 GATA5 GATA5 15802 611496 Q9BWX5 GATA-binding protein 5 bB379O24.1 GATA binding protein 5 hrdo:gen_id_21189 RAD21 RAD21 9811 606462 O60216 KIAA0078 RAD21 (S. pombe) homolog SCC1 hHR21 RAD21 homolog (S. pombe) hrdo:gen_id_21190 TRDN TRDN 12261 603283 Q13061 Triadin hrdo:gen_id_21191 CD151 CD151 1630 602243 P48509 CD151 antigen CD151 antigen (Raph blood group) PETA-3 RAPH SFA-1 TSPAN24 CD151 molecule (Raph blood group) hrdo:gen_id_21192 ADAMTS17 ADAMTS17 17109 607511 Q8TE56 FLJ16363 FLJ32769 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 hrdo:gen_id_21193 GATAD1 GATAD1 29941 614518 Q8WUU5 FLJ22489 ODAG Ocular development associated gene RG083M05.2 GATA zinc finger domain containing 1 hrdo:gen_id_21194 DIAPH3 DIAPH3 15480 614567 Q9NSV4 AN AUNA1 Auditory neuropathy, autosomal dominant 1 DRF3 Diaphanous (Drosophila, homolog) 3 FLJ34705 NSDAN Diaphanous homolog 3 (Drosophila) hrdo:gen_id_21195 PIGO PIGO 23215 614730 Q8TEQ8 DKFZp434M222 FLJ00135 Phosphatidylinositol glycan, class O Phosphatidylinositol glycan anchor biosynthesis, class O hrdo:gen_id_21196 SLC52A2 GPR172A 30224 607882 Q9HAB3 D15Ertd747e FLJ11856 G protein-coupled receptor 172A GPCR41 GPR172A PAR1 RFVT2 hRFT3 Solute carrier family 52, riboflavin transporter, member 2 hrdo:gen_id_21197 CARD14 CARD14 16446 607211 Q9BXL6 BIMP2 CARMA2 Caspase recruitment domain family, member 14 hrdo:gen_id_21198 SOHLH1 SOHLH1 27845 610224 Q5JUK2 C9orf157 Chromosome 9 open reading frame 157 NOHLH TEB2 bA100C15.3 bHLHe80 Spermatogenesis and oogenesis specific basic helix-loop-helix 1 hrdo:gen_id_21199 NR1H4 NR1H4 7967 603826 Q96RI1 FXR HRR-1 HRR1 RIP14 Nuclear receptor subfamily 1, group H, member 4 hrdo:gen_id_21200 PNPLA3 PNPLA3 18590 609567 Q9NST1 ADPN Adiponutrin C22orf20 Chromosome 22 open reading frame 20 FLJ22012 dJ796I17.1 iPLA2epsilon Patatin-like phospholipase domain containing 3 hrdo:gen_id_21201 SORL1 SORL1 11185 602005 Q92673 C11orf32 Chromosome 11 open reading frame 32 LR11 LRP9 SorLA SorLA-1 Sortilin-related receptor, L(DLR class) A repeats-containing gp250 Sortilin-related receptor, L(DLR class) A repeats containing hrdo:gen_id_21202 KIAA1377 KIAA1377 29264 614634 Q9P2H0 KIAA1377 hrdo:gen_id_21203 CCDC11 CCDC11 26530 614759 Q96M91 Coiled-coil domain containing 11 hrdo:gen_id_21204 MMP1 MMP1 7155 120353 P03956 CLG Matrix metalloproteinase 1 (interstitial collagenase) Matrix metallopeptidase 1 (interstitial collagenase) hrdo:gen_id_21205 PIK3R2 PIK3R2 8980 603157 O00459 P85B p85 Phosphoinositide-3-kinase, regulatory subunit 2 (beta) hrdo:gen_id_21206 DYT15 31376 Dystonia 15, myoclonic hrdo:gen_id_21207 TUBB4A TUBB4 20774 602662 P04350 Class IVa beta-tubulin TUBB4 Tubulin, beta 4 Tubulin, beta 4 class IVa beta-5 Tubulin, beta 4A class IVa hrdo:gen_id_21208 DYT2 3102 Dystonia 2, torsion (autosomal recessive) hrdo:gen_id_21209 DYT17 35416 Dystonia 17 hrdo:gen_id_21210 ELF4 ELF4 3319 300775 Q99607 ELFR MEF E74-like factor 4 (ets domain transcription factor) hrdo:gen_id_21211 PTPN2 PTPN2 9650 176887 P17706 PTPT TC-PTP TCELLPTP TCPTP Protein tyrosine phosphatase, non-receptor type 2 hrdo:gen_id_21296 PHF21A PHF21A 24156 608325 Q96BD5 BHC80 BM-006 KIAA1696 PHD finger protein 21A hrdo:gen_id_21297 IFITM5 IFITM5 16644 614757 A6NNB3 BRIL Fragilis4 Hrmp1 Interferon induced transmembrane protein 5 hrdo:gen_id_21300 FAN1 FAN1 29170 613534 Q9Y2M0 KIAA1018 MTMR15 Myotubularin related protein 15 FANCD2/FANCI-associated nuclease 1 hrdo:gen_id_21302 ODZ3 29944 610083 Q9P273 KIAA1455 Ten-M3 Odz, odd Oz/ten-m homolog 3 (Drosophila) hrdo:gen_id_21303 DCTN4 DCTN4 15518 614758 Q9UJW0 Dynactin 4 (p62) hrdo:gen_id_21406 TCTN3 TCTN3 24519 613847 Q6NUS6 C10orf61 Chromosome 10 open reading frame 61 DKFZP564D116 TECT3 Tectonic family member 3 hrdo:gen_id_21408 WNT3A WNT3A 15983 606359 Wingless-type MMTV integration site family, member 3A hrdo:gen_id_21409 DKK1 DKK1 2891 605189 O94907 DKK-1 Dickkopf (Xenopus laevis) homolog 1 SK Dickkopf 1 homolog (Xenopus laevis) hrdo:gen_id_21410 SMAD6 SMAD6 6772 602931 O43541 HsT17432 MAD, mothers against decapentaplegic homolog 6 (Drosophila) MADH6 MADH7 SMAD, mothers against DPP homolog 6 (Drosophila) SMAD family member 6 hrdo:gen_id_21411 C4ORF26 C4orf26 26300 614829 Q17RF5 FLJ23657 Chromosome 4 open reading frame 26 hrdo:gen_id_21412 RBPJ RBPJ 147183 Q06330 CBF1 IGKJRB IGKJRB1 KBF2 RBP-J RBPJK RBPSUH Recombining binding protein suppressor of hairless (Drosophila) SUH Suppressor of hairless homolog (Drosophila) Recombination signal binding protein for immunoglobulin kappa J region hrdo:gen_id_21413 PFN1 PFN1 8881 176610 P07737 Profilin 1 hrdo:gen_id_21414 KCNJ18 KCNJ18 39080 613236 B7U540 KIR2.6 TTPP2 Potassium inwardly-rectifying channel, subfamily J, member 18 hrdo:gen_id_21415 CCDC78 CCDC78 14153 614666 A2IDD5 C16orf25 FLJ34512 Coiled-coil domain containing 78 hrdo:gen_id_21416 GTDC2 C3orf39 25902 614828 Q8NAT1 AGO61 C3orf39 Chromosome 3 open reading frame 39 FLJ14566 Glycosyltransferase-like domain containing 2 hrdo:gen_id_21417 NMNAT1 NMNAT1 17877 608700 Q9HAN9 NMNAT Nicotinamide nucleotide adenylyltransferase PNAT1 Nicotinamide nucleotide adenylyltransferase 1 hrdo:gen_id_21418 OPA2 8141 Optic atrophy 2 (obscure) hrdo:gen_id_21419 SLC30A10 SLC30A10 25355 611146 Q6XR72 DKFZp547M236 ZNT8 ZRC1 Zinc transporter 8 ZnT-10 Solute carrier family 30, member 10 hrdo:gen_id_21420 ITGA3 ITGA3 6139 605025 P26006 Antigen identified by monoclonal antibody J143 CD49c GAP-B3 MSK18 VCA-2 VLA3a Integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) hrdo:gen_id_21421 AP5Z1 KIAA0415 22197 613653 O43299 KIAA0415 SPG48 zeta Adaptor-related protein complex 5, zeta 1 subunit hrdo:gen_id_21422 CNNM2 CNNM2 103 607803 Q9H8M5 ACDP2 Cyclin M2 hrdo:gen_id_21423 HOXB1 HOXB1 5111 142968 P14653 HOX2 HOX2I Homeo box B1 Homeobox B1 hrdo:gen_id_21424 ALX1 ALX1 1494 601527 Q15699 CART1 Cartilage paired-class homeoprotein 1 ALX homeobox 1 hrdo:gen_id_21425 JAM3 JAM3 15532 606871 Q9BX67 JAM-C JAMC Junctional adhesion molecule 3 hrdo:gen_id_21426 FADD FADD 3573 602457 Q13158 Fas-associating death domain-containing protein Fas-associating protein with death domain GIG3 Growth-inhibiting gene 3 protein MORT1 Mediator of receptor-induced toxicity Fas (TNFRSF6)-associated via death domain hrdo:gen_id_21427 SKI SKI 10896 164780 P12755 V-ski avian sarcoma viral oncogene homolog V-ski sarcoma viral oncogene homolog (avian) hrdo:gen_id_21428 KCNAB2 KCNAB2 6229 601142 Q13303 AKR6A5 HKvbeta2.1 HKvbeta2.2 KCNA2B Potassium voltage-gated channel, shaker-related subfamily, beta member 2 hrdo:gen_id_21429 MTPAP MTPAP 25532 613669 Q9NVV4 FLJ10486 PAP associated domain containing 1 PAPD1 TUTase1 mtPAP Mitochondrial poly(A) polymerase hrdo:gen_id_21430 IER3IP1 IER3IP1 18550 609382 Q9Y5U9 Immediate early response 3 interacting protein 1 hrdo:gen_id_21431 SLC19A1 SLC19A1 10937 600424 P41440 FOLT Solute carrier family 19 (folate transporter), member 1 hrdo:gen_id_21432 GGH GGH 4248 601509 Q92820 Gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase) hrdo:gen_id_21433 DYT21 39436 Dystonia 21, torsion (autosomal dominant) hrdo:gen_id_21434 ATP2B3 ATP2B3 816 300014 Q16720 PMCA3 Plasma membrane calcium-transporting ATPase 3 ATPase, Ca++ transporting, plasma membrane 3 hrdo:gen_id_21435 RAB33B RAB33B 16075 605950 Q9H082 DKFZP434G099 RAB33B, member RAS oncogene family hrdo:gen_id_21438 TACC3 TACC3 11524 605303 Q9Y6A5 ERIC1 Transforming, acidic coiled-coil containing protein 3 hrdo:gen_id_21439 TACC1 TACC1 11522 605301 O75410 Transforming, acidic coiled-coil containing protein 1 hrdo:gen_id_21440 IFT88 IFT88 20606 600595 Q13099 D13S1056E MGC26259 Polaris homolog TTC10 Tetratricopeptide repeat domain 10 Tg737 hTg737 Intraflagellar transport 88 homolog (Chlamydomonas) hrdo:gen_id_21441 NCOA4 NCOA4 7671 601984 Q13772 ARA70 DKFZp762E1112 ELE1 PTC3 RET-activating gene ELE1 RFG Nuclear receptor coactivator 4 hrdo:gen_id_21446 COL14A1 COL14A1 2191 120324 Q05707 UND Undulin Collagen, type XIV, alpha 1 hrdo:gen_id_21447 BCKDK BCKDK 16902 614901 O14874 Branched chain ketoacid dehydrogenase kinase hrdo:gen_id_21454 ZNF423 ZNF423 16762 604557 Q2M1K9 Early B-cell factor associated zinc finger protein Ebfaz KIAA0760 NPHP14 OAZ OLF-1/EBF associated zinc finger gene Roaz Smad- and Olf-interacting zinc finger protein Zfp104 Zinc finger protein 423 hrdo:gen_id_21455 CEP164 CEP164 29182 614848 Q9UPV0 KIAA1052 NPHP15 Centrosomal protein 164kDa hrdo:gen_id_21522 MMP14 MMP14 7160 600754 P50281 MT1-MMP Matrix metalloproteinase 14 (membrane-inserted) Membrane type 1 metalloprotease Matrix metallopeptidase 14 (membrane-inserted) hrdo:gen_id_21536 VAMP1 VAMP1 12642 185880 P23763 SYB1 VAMP-1 Vesicle-associated membrane protein 1 (synaptobrevin 1) hrdo:gen_id_21541 TSPEAR TSPEAR 1268 612920 Q8WU66 C21orf29 Chromosome 21 open reading frame 29 DFNB98 Deafness, autosomal recessive 98 MGC11251 TSP-EAR Thrombospondin-type laminin G domain and EAR repeats hrdo:gen_id_21551 FARS2 FARS2 21062 611592 O95363 FARS1 Phenylalanine tRNA ligase 2, mitochondrial Phenylalanine-tRNA synthetase 1 (mitochondrial) dJ236A3.1 Phenylalanyl-tRNA synthetase 2, mitochondrial hrdo:gen_id_21552 DACT1 DACT1 17748 607861 Q9NYF0 DAPPER DAPPER1 Dapper homolog 1, antagonist of beta-catenin (xenopus) FRODO HDPR1 THYEX3 Dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) hrdo:gen_id_21553 ABCD4 ABCD4 68 603214 O14678 EST352188 P70R PMP69 PXMP1L ATP-binding cassette, sub-family D (ALD), member 4 hrdo:gen_id_21554 HACE1 HACE1 21033 610876 Q8IYU2 KIAA1320 HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 hrdo:gen_id_21555 LIN28B LIN28B 32207 611044 Q6ZN17 CSDD2 FLJ16517 Lin-28 homolog B (C. elegans) hrdo:gen_id_21556 ISG15 ISG15 4053 147571 P05161 G1P2 IFI15 Interferon, alpha-inducible protein (clone IFI-15K) UCRP ISG15 ubiquitin-like modifier hrdo:gen_id_21557 IRF8 IRF8 5358 601565 Q02556 ICSBP ICSBP1 IRF-8 Interferon consensus sequence binding protein 1 Interferon regulatory factor 8 hrdo:gen_id_21558 CASC5 CASC5 24054 609173 Q8NG31 AF15Q14 Blinkin, bub-linking kinetochore protein CT29 Cancer/testis antigen 29 D40 KNL1 Kinetochore null 1 homolog (C. elegans) PPP1R55 Protein phosphatase 1, regulatory subunit 55 hKNL-1 hSpc105 Cancer susceptibility candidate 5 hrdo:gen_id_21559 HEATR2 HEATR2 26013 614864 Q86Y56 FLJ20397 FLJ25564 FLJ31671 FLJ39381 HEAT repeat containing 2 hrdo:gen_id_21560 POC1A POC1A 24488 614783 Q8NBT0 DKFZP434C245 WD repeat domain 51A WDR51A POC1 centriolar protein homolog A (Chlamydomonas) hrdo:gen_id_21565 USH1H 22433 Usher syndrome 1H (autosomal recessive) hrdo:gen_id_21566 CIB2 CIB2 24579 605564 O75838 DFNB48 Deafness, autosomal recessive 48 KIP2 USH1J Usher syndrome 1J (autosomal recessive) Calcium and integrin binding family member 2 hrdo:gen_id_21567 HYDIN HYDIN 19368 610812 Q4G0P3 DKFZp434D0513 Hydrocephalus inducing Hydrocephalus inducing homolog (mouse) KIAA1864 PPP1R31 Protein phosphatase 1, regulatory subunit 31 HYDIN, axonemal central pair apparatus protein hrdo:gen_id_21568 CABP2 CABP2 1385 607314 Q9NPB3 Calcium binding protein 2 hrdo:gen_id_21569 HCFC1 HCFC1 4839 300019 P51610 CFF HCF-1 HCF1 HFC1 MGC70925 VCAF Host cell factor C1 (VP16-accessory protein) hrdo:gen_id_21570 AAGAB AAGAB 25662 614888 Q6PD74 FLJ11506 p34 Alpha- and gamma-adaptin binding protei hrdo:gen_id_21571 PEX11B PEX11B 8853 603867 O96011 Peroxisomal biogenesis factor 11B Peroxisomal biogenesis factor 11 beta hrdo:gen_id_21572 LRRC6 LRRC6 16725 614930 Q86X45 LRTP Leucine rich testes protein TSLRP Leucine rich repeat containing 6 hrdo:gen_id_21573 KCNT1 KCNT1 18865 608167 Q5JUK3 KCa4.1 KIAA1422 Potassium channel, subfamily T, member 1 hrdo:gen_id_21574 CALM1 CALM1 1442 114180 P62158 CALML2 CAMI DD132 PHKD Calmodulin 1 (phosphorylase kinase, delta) hrdo:gen_id_21575 LHX1 P48742 LHX1 6593 601999 LIM-1 LIM1 LIM homeobox 1 hrdo:gen_id_21576 TNFSF15 TNFSF15 11931 604052 O95150 MGC129934 MGC129935 TL1 TL1A TNF ligand-related molecule 1 TNF superfamily ligand TL1A VEGI VEGI192A Vascular endothelial cell growth inhibitor Vascular endothelial growth inhibitor-192A Tumor necrosis factor (ligand) superfamily, member 15 hrdo:gen_id_21577 POU2AF1 POU2AF1 9211 601206 Q16633 OBF1 POU domain class 2, associating factor 1 POU class 2 associating factor 1 hrdo:gen_id_21583 PTPN22 PTPN22 9652 600716 Q9Y2R2 Lyp Lyp1 Lyp2 PTPN8 Protein tyrosine phosphatase, non-receptor type 8 Protein tyrosine phosphatase, non-receptor type 22 (lymphoid) hrdo:gen_id_21586 HOXC13 HOXC13 5125 142976 P31276 HOX3 HOX3G Homeo box C13 Homeobox C13 hrdo:gen_id_21587 OTOG OTOG 8516 604487 Q6ZRI0 FLJ46346 OTGN mlemp Otogelin hrdo:gen_id_21588 PNPT1 PNPT1 23166 610316 Q8TCS8 3'-5' RNA exonuclease OLD35 PNPase Polynucleotide phosphorylase old-35 Polyribonucleotide nucleotidyltransferase 1 hrdo:gen_id_21589 OTOGL OTOGL 26901 614925 Q3ZCN5 C12orf64 Chromosome 12 open reading frame 64 FLJ90579 Otogelin-like hrdo:gen_id_21590 RPL26 RPL26 603704 P61254 L26 Ribosomal protein L26 hrdo:gen_id_21591 TMEM5 TMEM5 13530 605862 Q9Y2B1 HP10481 Transmembrane protein 5 hrdo:gen_id_21592 MARS2 MARS2 25133 609728 Q96GW9 Methionine tRNA ligase 2, mitochondrial mtMetRS Methionyl-tRNA synthetase 2, mitochondrial hrdo:gen_id_21593 CSF1R CSF1R 2433 164770 P07333 C-FMS CD115 CSFR FMS McDonough feline sarcoma viral (v-fms) oncogene homolog Colony stimulating factor 1 receptor hrdo:gen_id_21594 CTC1 CTC1 26169 613129 Q2NKJ3 AAF132 C17orf68 Chromosome 17 open reading frame 68 Conserved telomere capping protein 1 Conserved telomere maintenance component 1 FLJ22170 alpha accessory factor 132 tmp494178 CTS telomere maintenance complex component 1 hrdo:gen_id_21595 ACO2 ACO2 118 100850 Q99798 ACONM Aconitase 2, mitochondrial hrdo:gen_id_21596 SOX5 SOX5 11201 604975 P35711 L-SOX5 MGC35153 SRY (sex determining region Y)-box 5 hrdo:gen_id_21597 EARS2 EARS2 29419 612799 Q5JPH6 Glutamate tRNA ligase 2, mitochondrial Glutamyl-tRNA synthetase 2, mitochondrial (putative) KIAA1970 MSE1 Glutamyl-tRNA synthetase 2, mitochondrial hrdo:gen_id_21598 GUCY2C GUCY2C 4688 601330 P25092 GUC2C STAR Guanylate cyclase 2C (heat stable enterotoxin receptor) hrdo:gen_id_21599 SRP72 SRP72 11303 602122 O76094 Signal recognition particle 72kD Signal recognition particle 72kDa hrdo:gen_id_21600 DNAJB2 DNAJB2 5228 604139 P25686 HSJ1 HSPF3 DnaJ (Hsp40) homolog, subfamily B, member 2 hrdo:gen_id_21601 IRX5 IRX5 14361 606195 P78411 IRX-2a Iroquois homeobox 5 hrdo:gen_id_21602 MTO1 MTO1 19261 614667 Q9Y2Z2 Mitochondrial translation optimization 1 homolog (S. cerevisiae) hrdo:gen_id_21603 CAMTA1 CAMTA1 18806 611501 Q9Y6Y1 KIAA0833 Calmodulin binding transcription activator 1 hrdo:gen_id_21604 B2M B2M 914 109700 P61769 Beta-2-microglobulin hrdo:gen_id_21605 TMEM165 TMEM165 30760 614726 Q9HC07 GDT1 TMPT27 TPA regulated locus TPARL Transmembrane protein 165 hrdo:gen_id_21606 STK4 STK4 11408 604965 Q13043 KRS2 Kinase responsive to stress 2 MST1 Mammalian sterile 20-like 1 YSK3 Yeast Ste20-like Serine/threonine kinase 4 hrdo:gen_id_21607 CREB3L3 CREB3L3 18855 611998 Q68CJ9 CREB-H cAMP responsive element binding protein 3-like 3 hrdo:gen_id_21608 IKZF1 IKZF1 13176 603023 Q13422 Hs.54452 IKAROS LyF-1 ZNFN1A1 Zinc finger protein, subfamily 1A, 1 (Ikaros) hIk-1 IKAROS family zinc finger 1 (Ikaros) hrdo:gen_id_21609 PRKDC PRKDC 9413 600899 P78527 DNA-PKcs DNAPK DNPK1 HYRC HYRC1 XRCC7 p350 Protein kinase, DNA-activated, catalytic polypeptide hrdo:gen_id_21610 SLC9A9 SLC9A9 20653 608396 Q8IVB4 FLJ35613 NHE9 Solute carrier family 9 (sodium/hydrogen exchanger), isoform 9 Solute carrier family 9 (sodium/hydrogen exchanger), member 9 Solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 hrdo:gen_id_21611 ABCB1 ABCB1 40 171050 P08183 ABC20 CD243 CLCS Colchicin sensitivity GP170 MDR1 Multidrug resistance protein 1 P-gp PGY1 ATP-binding cassette, sub-family B (MDR/TAP), member 1 hrdo:gen_id_21612 MEGF8 MEGF8 3233 604267 Q7Z7M0 C19orf49 Chromosome 19 open reading frame 49 EGF-like-domain, multiple 4 EGFL4 FLJ22365 HBV pre s2 binding protein 1 SBP1 Multiple EGF-like-domains 8 hrdo:gen_id_21613 ATRIP ATRIP 33499 606605 Q8WXE1 FLJ12343 MGC20625 MGC21482 MGC26740 ATR interacting protein hrdo:gen_id_21614 GATAD2B GATAD2B 30778 614998 Q8WXI9 P66beta Transcription repressor p66 beta component of the MeCP1 complex GATA zinc finger domain containing 2B hrdo:gen_id_21615 TBK1 TBK1 11584 604834 Q9UHD2 NAK TANK-binding kinase 1 hrdo:gen_id_21616 RTTN RTTN 18654 610436 Q86VV8 DKFZP434G145 Rotatin hrdo:gen_id_21617 KRT71 KRT71 28927 608245 Q3SY84 K6IRS1 KRT6IRS KRT6IRS1 Keratin 71 hrdo:gen_id_21703 SMCHD1 SMCHD1 29090 614982 A6NHR9 KIAA0650 Structural maintenance of chromosomes flexible hinge domain containing 1 hrdo:gen_id_21704 CYP26C1 CYP26C1 20577 608428 Q6V0L0 Cytochrome P450, family 26, subfamily C, polypeptide 1 hrdo:gen_id_21705 LARP7 LARP7 24912 612026 Q4G0J3 DKFZP564K112 HDCMA18P P-TEFb-interaction protein for 7SK stability PIP7S La ribonucleoprotein domain family, member 7 hrdo:gen_id_21724 EPS8L3 EPS8L3 21297 614989 Q8TE67 FLJ21522 MGC16817 EPS8-like 3 hrdo:gen_id_21725 AP2S1 AP2S1 565 602242 P53680 CLAPS2 Adaptor-related protein complex 2, sigma 1 subunit hrdo:gen_id_21726 ARHGEF10 ARHGEF10 14103 608136 O15013 Gef10 KIAA0294 Rho guanine nucleotide exchange factor (GEF) 10 hrdo:gen_id_21727 CCDC88C CCDC88C 19967 611204 Q9P219 DAPLE Dvl-associating protein with a high frequency of leucine residues HkRP2 KIAA1509 Coiled-coil domain containing 88C hrdo:gen_id_21729 ANO3 ANO3 14004 610110 Q9BYT9 C11orf25 Chromosome 11 open reading frame 25 GENX-3947 TMEM16C Transmembrane protein 16C Transmembrane protein 16C (eight membrane-spanning domains) Anoctamin 3 hrdo:gen_id_21730 DHTKD1 DHTKD1 23537 614984 Q96HY7 DKFZP762M115 KIAA1630 MGC3090 Dehydrogenase E1 and transketolase domain containing 1 hrdo:gen_id_21731 SLC5A7 SLC5A7 14025 608761 Q9GZV3 CHT1 hCHT Solute carrier family 5 (choline transporter), member 7 hrdo:gen_id_21732 ACTG2 ACTG2 145 102545 P63267 ACTA3 ACTL3 ACTSG Actin, gamma 2, smooth muscle, enteric hrdo:gen_id_21733 STAT4 STAT4 11365 600558 Q14765 Signal transducer and activator of transcription 4 hrdo:gen_id_21734 DDIT3 DDIT3 2726 126337 P35638 C/EBP zeta CHOP CHOP10 GADD153 DNA-damage-inducible transcript 3 hrdo:gen_id_21735 MDM2 MDM2 6973 164785 Q00987 HDM2 HDMX MGC5370 Mdm2 p53 binding protein homolog (mouse) Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) Mouse double minute 2, human homolog of; p53-binding protein Mdm2, p53 E3 ubiquitin protein ligase homolog (mouse) hrdo:gen_id_21736 TMEM231 37234 614949 Q9H6L2 ALYE870 FLJ22167 PRO1886 Transmembrane protein 231 hrdo:gen_id_21737 CYP2U1 CYP2U1 20582 610670 Q7Z449 Cytochrome P450, family 2, subfamily U, polypeptide 1 hrdo:gen_id_21738 DDHD2 DDHD2 29106 615003 O94830 SAM, WWE and DDHD domain containing 1 SAMWD1 DDHD domain containing 2 hrdo:gen_id_21739 SPG43 35198 Spastic paraplegia 43 (autosomal recessive) hrdo:gen_id_21740 TECPR2 TECPR2 19957 615000 O15040 KIAA0329 Tectonin beta-propeller repeat containing 2 hrdo:gen_id_21741 CHD8 CHD8 20153 610528 Q9HCK8 DUPLIN HELSNF1 Helicase with SNF2 domain 1 KIAA1564 Chromodomain helicase DNA binding protein 8 hrdo:gen_id_21742 SLC52A1 GPR172B 30225 607883 Q9NWF4 G protein-coupled receptor 172B GPCR42 GPR172B PAR2 RFVT1 Riboflavin transporter 1 hRFT1 Solute carrier family 52, riboflavin transporter, member 1 hrdo:gen_id_21743 PNPLA1 PNPLA1 21246 612121 Q8N8W4 FLJ38755 Patatin-like phospholipase domain containing 1 hrdo:gen_id_21744 LRIT3 24783 615004 Q3SXY7 FIGLER4 Fibronectin type III, immunoglobulin and leucine rich repeat domains 4 Leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 hrdo:gen_id_21745 FCGR2B FCGR2B 3618 604590 P31994 CD32 CD32B FCG2 FCGR2 Fc fragment of IgG, low affinity IIb, receptor (CD32) hrdo:gen_id_21747 MEOX1 MEOX1 7013 600147 P50221 MOX1 Mesenchyme homeobox 1 hrdo:gen_id_21748 SNRPE SNRPE 11161 128260 P62304 Sm-E Small nuclear ribonucleoprotein polypeptide E hrdo:gen_id_21749 USH1K 43724 Usher syndrome 1K (autosomal recessive) hrdo:gen_id_21750 CCDC114 CCDC114 26560 615038 Q96M63 FLJ32926 Coiled-coil domain containing 114 hrdo:gen_id_21751 ECEL1 ECEL1 3147 605896 O95672 DINE Damage induced neuronal endopeptidase XCE Endothelin converting enzyme-like 1 hrdo:gen_id_21752 INPPL1 INPPL1 6080 600829 O15357 51C protein SHIP2 Inositol polyphosphate phosphatase-like 1 hrdo:gen_id_21753 EPG5 EPG5 29331 615068 Q9HCE0 KIAA1632 hEPG5 Ectopic P-granules autophagy protein 5 homolog (C. elegans) hrdo:gen_id_21754 ZNF141 ZNF141 12926 194648 Q15928 D4S90 Zinc finger protein 141 (clone pHZ-44) pHZ-44 Zinc finger protein 141 hrdo:gen_id_21755 MPDZ MPDZ 7208 603785 O75970 MUPP1 Multiple PDZ domain protein hrdo:gen_id_21756 NOL3 NOL3 7869 605235 O60936 ARC CARD2 MYP NOP30 Nucleolar protein 3 (apoptosis repressor with CARD domain) hrdo:gen_id_21757 VPS37A VPS37A 24928 609927 Q8NEZ2 HCRP1 Hepatocellular carcinoma related protein 1 PQBP2 Polyglutamine binding protein 2 SPG53 Vacuolar protein sorting 37A (yeast) Vacuolar protein sorting 37 homolog A (S. cerevisiae) hrdo:gen_id_21759 CCR5 CCR5 1606 601373 P51681 CC-CKR-5 CD195 CKR-5 CKR5 CMKBR5 Chemokine (C-C motif) receptor 5 IDDM22 Chemokine (C-C motif) receptor 5 (gene/pseudogene) hrdo:gen_id_21824 COX7B COX7B 2291 300885 P24311 Cytochrome c oxidase subunit VIIb hrdo:gen_id_21825 NIN NIN 14906 608684 Q8N4C6 Ninein (GSK3B interacting protein) hrdo:gen_id_21826 HELLPAR 43984 614985 LINC-HELLP Long intergenic non-protein coding RNA associated with HELLP syndrome HELLP associated long non-coding RNA hrdo:gen_id_21834 MRPL3 MRPL3 10379 607118 P09001 MRL3 RPML3 Mitochondrial ribosomal protein L3 hrdo:gen_id_21835 CRKL CRKL 2363 602007 P46109 v-crk avian sarcoma virus CT10 oncogene homolog-like v-crk sarcoma virus CT10 oncogene homolog (avian)-like hrdo:gen_id_21836 TRAF6 TRAF6 12036 602355 Q9Y4K3 RNF85 TNF receptor-associated factor 6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase hrdo:gen_id_21837 EDA2R EDA2R 17756 300276 Q9HAV5 EDA-A2R EDAA2R TNFRSF27 XEDAR Ectodysplasin A2 receptor hrdo:gen_id_21847 MCM6 MCM6 6949 601806 Q14566 MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae) MIS5 homolog (S.pombe) Minichromosome maintenance deficient (mis5, S. pombe) 6 Minichromosome maintenance deficient 6 homolog (S. cerevisiae) Mis5 Minichromosome maintenance complex component 6 hrdo:gen_id_21852 SPG41 34382 Spastic paraplegia 41 (autosomal dominant) hrdo:gen_id_21853 SPG36 33240 Spastic paraplegia 36 (autosomal dominant) hrdo:gen_id_21855 SPG45 35431 Spastic paraplegia 45 (autosomal recessive) hrdo:gen_id_21860 SCN10A SCN10A 10582 604427 Q9Y5Y9 Nav1.8 PN3 SNS Sodium channel, voltage-gated, type X, alpha polypeptide hPN3 Sodium channel, voltage-gated, type X, alpha subunit hrdo:gen_id_21861 COX20 FAM36A 26970 614698 Q5RI15 FAM36A Family with sequence similarity 36, member A COX20 Cox2 chaperone homolog (S. cerevisiae) hrdo:gen_id_21863 PPM1K 25415 611065 Q8N3J5 BDP PP2C-type mitochondrial phosphoprotein phosphatase PP2Ckappa PP2Cm Protein phosphatase 1K (PP2C domain containing) Protein phosphatase 2C kappa hPTMP Protein phosphatase, Mg2+/Mn2+ dependent, 1K hrdo:gen_id_21864 STAT6 STAT6 11368 601512 P42226 IL-4-STAT Signal transducer and activator of transcription 6, interleukin-4 induced hrdo:gen_id_21865 NAB2 NAB2 7627 602381 Q15742 MADER NGFI-A binding protein 2 (EGR1 binding protein 2) hrdo:gen_id_21866 BEAN1 BEAN 24160 612051 Q3B7T3 Brain expressed, associated with NEDD4, 1 hrdo:gen_id_21867 PHC1 PHC1 3182 602978 P78364 EDR1 Early development regulator 1 (homolog of polyhomeotic 1) HPH1 Polyhomeotic-like 1 (Drosophila) RAE28 Polyhomeotic homolog 1 (Drosophila) hrdo:gen_id_21868 DIRC3 DIRC3 17805 608262 C9JPN6 FLJ14199 Disrupted in renal carcinoma 3 hrdo:gen_id_21869 TFEB TFEB 11753 600744 P19484 TCFEB bHLHe35 Transcription factor EB hrdo:gen_id_21870 CLTC CLTC 2092 118955 Q00610 CLTCL2 Clathrin, heavy polypeptide-like 2 Hc Clathrin, heavy chain (Hc) hrdo:gen_id_21871 SFPQ SFPQ 10774 605199 P23246 PSF Polypyrimidine tract binding protein associated Splicing factor proline/glutamine-rich hrdo:gen_id_21872 NONO NONO 7871 300084 Q15233 NMT55 NRB54 Nuclear RNA-binding protein, 54-kD P54 P54NRB Non-POU domain containing, octamer-binding hrdo:gen_id_21873 MIB1 MIB1 21086 608677 Q86YT6 DIP-1 KIAA1323 MIB Mindbomb homolog 1 (Drosophila) ZZANK2 ZZZ6 Mindbomb E3 ubiquitin protein ligase 1 hrdo:gen_id_21874 KLLN 37212 612105 B2CW77 killin Killin, p53-regulated DNA replication inhibitor hrdo:gen_id_21875 GRM1 GRM1 4593 604473 Q13255 GPRC1A MGLUR1 mGlu1 Glutamate receptor, metabotropic 1 hrdo:gen_id_21876 WDR81 26600 614218 Q562E7 WD repeat domain 81 hrdo:gen_id_21877 CA8 CA8 1382 114815 P35219 CALS CARP Carbonic anhydrase VIII hrdo:gen_id_21878 ATP8A2 ATP8A2 13533 605870 Q9NTI2 ATPIB ATPase, aminophospholipid transporter-like, class I, type 8A, member 2 ML-1 ATPase, aminophospholipid transporter, class I, type 8A, member 2 hrdo:gen_id_21879 PRDM8 PRDM8 13993 Q9NQV8 PR domain containing 8 hrdo:gen_id_21880 RHOH RHOH 686 602037 Q15669 ARHH TTF ras homolog gene family, member H ras homolog family member H hrdo:gen_id_21881 CACNA1D CACNA1D 1391 114206 Q01668 CACH3 CACN4 CACNL1A2 CCHL1A2 Cav1.3 Calcium channel, voltage-dependent, L type, alpha 1D subunit hrdo:gen_id_21882 CLIC2 CLIC2 2063 300138 O15247 XAP121 Chloride intracellular channel 2 hrdo:gen_id_21883 ALG13 ALG13 30881 300776 Q9NP73 Asparagine-linked glycosylation 13 homolog (S. cerevisiae) CXorf45 Chromosome X open reading frame 45 FLJ23018 GLT28D1 Glycosyltransferase 28 domain containing 1 MDS031 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase TDRD13 Tudor domain containing 13 YGL047W ALG13, UDP-N-acetylglucosaminyltransferase subunit hrdo:gen_id_21884 HINT1 HINT1 4912 601314 P49773 HINT Histidine triad nucleotide-binding protein PKCI-1 PRKCNH1 Histidine triad nucleotide binding protein 1 hrdo:gen_id_21885 RMND1 RMND1 21176 614917 Q9NWS8 C6orf96 Chromosome 6 open reading frame 96 RMD1 Required for meiotic nuclear division 1 homolog (S. cerevisiae) hrdo:gen_id_21886 CHMP1A CHMP1A 8740 164010 Q9HD42 CHMP1 Chromatin modifying protein 1A PCOLN3 PRSM1 Procollagen (type III) N-endopeptidase Vps46A Charged multivesicular body protein 1A hrdo:gen_id_21887 ADCY5 ADCY5 236 600293 O95622 AC5 Adenylate cyclase 5 hrdo:gen_id_21888 TIA1 TIA1 11802 603518 P31483 Nucleolysin TIA-1 isoform p40 T-cell-restricted intracellular antigen-1 TIA1 cytotoxic granule-associated RNA binding protein hrdo:gen_id_21890 GBA2 GBA2 18986 609471 Q9HCG7 AD035 Bile acid beta-glucosidase KIAA1605 Non-lysosomal glucosylceramidase Glucosidase, beta (bile acid) 2 hrdo:gen_id_21891 LRIG2 LRIG2 20889 608869 O94898 KIAA0806 Leucine-rich repeats and immunoglobulin-like domains 2 hrdo:gen_id_21892 ALDH1A3 ALDH1A3 409 600463 P47895 ALDH6 RALDH3 Retinaldehyde dehydrogenase 3 Aldehyde dehydrogenase 1 family, member A3 hrdo:gen_id_21893 SLC24A4 SLC24A4 10978 609840 Q8NFF2 NCKX4 Solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 hrdo:gen_id_21894 SYNE4 C19orf46 26703 Q8N205 C19orf46 Chromosome 19 open reading frame 46 FLJ36445 Nesp4 Nesprin-4 Spectrin repeat containing, nuclear envelope family member 4 hrdo:gen_id_21895 UQCRC2 UQCRC2 12586 191329 P22695 QCR2 UQCR2 Ubiquinol-cytochrome c reductase core protein II hrdo:gen_id_21896 MYPN MYPN 23246 608517 Q86TC9 MYOP Sarcomeric protein myopalladin, 145 kDa Myopalladin hrdo:gen_id_21897 ITGA2 ITGA2 6137 192974 P17301 CD49B Integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) hrdo:gen_id_21898 CD109 CD109 21685 608859 Q6YHK3 CD109 antigen (Gov platelet alloantigens) CPAMD7 DKFZp762L1111 FLJ38569 CD109 molecule hrdo:gen_id_21899 SCN11A SCN11A 10583 604385 Q9UI33 NaN Nav1.9 SCN12A SNS-2 Sodium channel, voltage-gated, type XI, alpha polypeptide Sodium channel, voltage-gated, type XII, alpha Sodium channel, voltage-gated, type XI, alpha subunit hrdo:gen_id_21900 CDKN2D CDKN2D 1790 600927 P55273 INK4D p19 Cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4) hrdo:gen_id_21901 MT-TT MT-TT 7499 590090 MTTT tRNA threonine trnT Mitochondrially encoded tRNA threonine hrdo:gen_id_21902 CACNA2D2 CACNA2D2 1400 607082 Q9NY47 Gene 26 KIAA0558 Calcium channel, voltage-dependent, alpha 2/delta subunit 2 hrdo:gen_id_21971 IGSF1 IGSF1 5948 300137 Q8N6C5 IGCD1 IGDC1 INHBP KIAA0364 MGC75490 PGSF2 Immunoglobulin superfamily, member 1 hrdo:gen_id_21972 SAA1 SAA1 10513 104750 P0DJI8 PIG4 SAA TP53I4 Serum amyloid A1 hrdo:gen_id_21973 B3GALNT2 B3GALNT2 28596 610194 Q8NCR0 MGC39558 UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2 Beta-1,3-N-acetylgalactosaminyltransferase 2 hrdo:gen_id_21974 ACTN1 ACTN1 163 102575 P12814 Actinin, alpha 1 hrdo:gen_id_21975 RTEL1 RTEL1 15888 608833 Q9NZ71 C20orf41 Chromosome 20 open reading frame 41 DKFZP434C013 KIAA1088 NHL RTEL bK3184A7.3 Regulator of telomere elongation helicase 1 hrdo:gen_id_21976 P2RX2 P2RX2 15459 600844 Q9UBL9 DFNA41 Deafness, autosomal dominant 41 P2X2 Purinergic receptor P2X, ligand-gated ion channel, 2 hrdo:gen_id_21977 TCF12 TCF12 11623 600480 Q99081 HEB HTF4 Helix-loop-helix transcription factor 4 HsT17266 bHLHb20 Transcription factor 12 hrdo:gen_id_21978 DRC1 C2orf39 24245 Q96MC2 C2orf39 CCDC164 Chromosome 2 open reading frame 39 Coiled-coil domain containing 164 FLJ32660 MGC16372 Dynein regulatory complex subunit 1 homolog (Chlamydomonas) hrdo:gen_id_21979 MUC1 MUC1 7508 158340 P15941 CD227 Mucin 1, transmembrane PEM PUM Mucin 1, cell surface associated hrdo:gen_id_21980 ALG14 ALG14 28287 612866 Q96F25 MGC19780 asparagine-linked glycosylation 14 homolog ALG14, UDP-N-acetylglucosaminyltransferase subunit hrdo:gen_id_21981 NABP1 OBFC2A 26232 612103 Q96AH0 OBFC2A Oligonucleotide/oligosaccharide-binding fold containing 2A SOSS-B2 SSB2 Sensor of single-strand DNA complex subunit B2 Single-stranded DNA-binding protein 2 Nucleic acid binding protein 1 hrdo:gen_id_21982 CALM2 CALM2 1445 114182 P62158 CAMII PHKD Prepro-calmodulin 2 Calmodulin 2 (phosphorylase kinase, delta) hrdo:gen_id_21983 TMEM38B 25535 611236 Q9NVV0 C9orf87 Chromosome 9 open reading frame 87 FLJ10493 TRIC-B Transmembrane protein 38B hrdo:gen_id_21984 DGKE DGKE 2852 601440 P52429 DAGK6 DGK Diacylglycerol kinase, epsilon 64kDa hrdo:gen_id_21985 TRB TRB@ 12155 186930 P04435 T-cell antigen receptor, beta polypeptide, T-cell receptor, beta cluster TCRB TRB@ T cell receptor beta locus hrdo:gen_id_21986 TRA 12027 186880 TRA@ TCRA TRA@ T cell receptor alpha locus hrdo:gen_id_21987 TRD TRD@ 12252 186810 TCRD TCRDV1 TRD@ T cell receptor delta locus hrdo:gen_id_21988 TRG TRG@ 12271 186970 T-cell antigen receptor, gamma polypeptide T-cell rearranging gene, gamma T-cell receptor, gamma cluster TCRG TRG@ T cell receptor gamma locus hrdo:gen_id_21989 TCL1A TCL1A 11648 186960 P56279 TCL1 T-cell leukemia/lymphoma 1A hrdo:gen_id_21990 TLX1 TLX1 5056 186770 P31314 HOX11 T-cell leukemia, homeobox 1 TCL3 homeo box 11 (T-cell lymphoma 3-associated breakpoint) T-cell leukemia homeobox 1 hrdo:gen_id_21991 TLX3 TLX3 13532 604640 O43711 HOX11L2 RNX homeo box 11-like 2 T-cell leukemia homeobox 3 hrdo:gen_id_22007 RBCK1 RBCK1 15864 610924 Q9BYM8 C20orf18 Chromosome 20 open reading frame 18 HOIL1 Heme-oxidized IRP2 ubiquitin ligase 1 RBCK2 RNF54 UBCE7IP3 XAP4 ZRANB4 RanBP-type and C3HC4-type zinc finger containing 1 hrdo:gen_id_22008 DPM2 DPM2 3006 603564 O94777 DPM synthase complex subunit Dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit hrdo:gen_id_22009 HERC2 HERC2 4868 605837 O95714 D15F37S1 hect domain and RLD 2 jdf2 p528 HECT and RLD domain containing E3 ubiquitin protein ligase 2 hrdo:gen_id_22010 CAPN5 1482 HTRA3 nCL-3 Calpain 5 hrdo:gen_id_22011 PACS1 PACS1 30032 607492 Q6VY07 Phosphofurin acidic cluster sorting protein 1 hrdo:gen_id_22012 ZNF335 ZNF335 15807 610827 Q9H4Z2 NIF-1 NRC-interacting factor 1 bA465L10.2 Zinc finger protein 335 hrdo:gen_id_22013 DGAT1 DGAT1 2843 604900 O75907 ARGP1 DGAT Diacylglycerol O-acyltransferase homolog 1 (mouse) Diacylglycerol O-acyltransferase 1 hrdo:gen_id_22014 UBE3B UBE3B 13478 608047 Q7Z3V4 Ubiquitin protein ligase E3B hrdo:gen_id_22015 WDR45 WDR45 28912 300526 Q9Y484 JM5 NBIA4 Neurodegeneration with brain iron accumulation 4 WD repeat domain, X-linked 1 WDRX1 WIPI4 WD repeat domain 45 hrdo:gen_id_22016 GNAL GNAL 4388 139312 P38405 Guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type hrdo:gen_id_22017 CBFA2T3 CBFA2T3 1537 603870 O75081 MTG16 MTGR2 Myeloid translocation gene 8 and 16b ZMYND4 Core-binding factor, runt domain, alpha subunit 2; translocated to, 3 hrdo:gen_id_22018 TMLHE TMLHE 18308 300777 Q9NVH6 BBOX2 Butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2 TMLH XAP130 Trimethyllysine hydroxylase, epsilon hrdo:gen_id_22019 DNM1L DNM1L 2973 603850 O00429 DRP1 DVLP DYMPLE HDYNIV VPS1 Dynamin 1-like hrdo:gen_id_22020 GFER GFER 4236 600924 P55789 ALR ERV1 ERV1 homolog (S. cerevisiae) Growth factor, erv1 (S. cerevisiae)-like (augmenter of liver regeneration) HERV1 HPO1 HPO2 HSS Growth factor, augmenter of liver regeneration hrdo:gen_id_22021 C12ORF57 C12orf57 29521 615140 Q99622 C10 GRCC10 Chromosome 12 open reading frame 57 hrdo:gen_id_22022 HNRNPA2B1 HNRNPA2B1 5033 600124 P22626 HNRPA2B1 Heterogeneous nuclear ribonucleoprotein A2/B1 hrdo:gen_id_22023 HNRNPA1 HNRNPA1 5031 164017 P09651 HNRPA1 Heterogeneous nuclear ribonucleoprotein A1 hrdo:gen_id_22024 WNT1 WNT1 12774 164820 P04628 INT1 Wingless-type MMTV integration site family, member 1 hrdo:gen_id_22025 PGAP2 FRAG1 17893 615187 Q9UHJ9 CWH43-N Cell wall biogenesis 43 N-terminal homolog (S. cerevisiae) FGF receptor activating protein 1 FRAG1 Post-GPI attachment to proteins 2 hrdo:gen_id_22026 EOGT C3orf64 28526 614789 Q5NDL2 AER61 AER61 glycosyltransferase C3orf64 Chromosome 3 open reading frame 64 EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase hrdo:gen_id_22027 CLPP CLPP 2084 601119 Q16740 ATP-dependent protease ClpAP (E. coli), proteolytic subunit, human ClpP (caseinolytic protease, ATP-dependent, proteolytic subunit, E. coli) homolog ClpP caseinolytic protease, ATP-dependent, proteolytic subunit homolog (E. coli) ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog (E. coli) hrdo:gen_id_22028 LARS2 LARS2 17095 604544 Q15031 LEURS Leucine tRNA ligase 2, mitochondrial Leucyl-tRNA synthetase 2, mitochondrial hrdo:gen_id_22029 KCTD1 KCTD1 18249 613420 Q719H9 C18orf5 Potassium channel tetramerisation domain containing 1 hrdo:gen_id_22030 TBX6 TBX6 11605 602427 O95947 T-box 6 hrdo:gen_id_22031 B3GNT1 B3GNT1 15685 605517 O43505 B3GN-T1 B3GNT6 BETA3GNTI N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 iGAT iGNT UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 hrdo:gen_id_22032 PIEZO2 PIEZO2 26270 613629 Q9H5I5 C18orf30 C18orf58 Chromosome 18 open reading frame 30 Chromosome 18 open reading frame 58 FAM38B FAM38B2 Family with sequence similarity 38, member B Piezo-type mechanosensitive ion channel component 2 hrdo:gen_id_22033 PRKCD PRKCD 9399 176977 Q05655 Protein kinase C, delta hrdo:gen_id_22034 ERF ERF 3444 611888 P50548 PE2 Ets2 repressor factor hrdo:gen_id_22035 SMARCE1 SMARCE1 11109 603111 Q969G3 BAF57 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 hrdo:gen_id_22036 MASP2 MASP2 6902 605102 O00187 MASP1P1 Mannan-binding lectin serine peptidase 1 pseudogene 1 Mannan-binding lectin serine protease 1 pseudogene 1 Mannan-binding lectin serine protease 2 Mannan-binding lectin serine peptidase 2 hrdo:gen_id_22037 FCN3 FCN3 3625 604973 O75636 FCNH HAKA1 Ficolin (collagen/fibrinogen domain containing) 3 (Hakata antigen) hrdo:gen_id_22038 TNFSF12 TNFSF12 11927 602695 O43508 APO3L DR3LG TWEAK Tumor necrosis factor (ligand) superfamily, member 12 hrdo:gen_id_22039 CNTN2 CNTN2 2172 190197 Q02246 AXT TAG-1 TAX TAX1 Contactin 2 (axonal) hrdo:gen_id_22040 DNA2 DNA2 2939 601810 P51530 DNA replication helicase 2 homolog (yeast) DNA2 DNA replication helicase 2-like (yeast) DNA2L DNA replication helicase/nuclease 2 hrdo:gen_id_22041 LAMA4 LAMA4 6484 600133 Q16363 LAMA3 Laminin, alpha 4 hrdo:gen_id_22042 CARD11 CARD11 16393 607210 Q9BXL7 BIMP3 CARMA1 bcl10-interacting maguk protein 3 card-maguk protein 1 Caspase recruitment domain family, member 11 hrdo:gen_id_22043 CRYGB CRYGB 2409 123670 P07316 CRYG2 Ccrystallin, gamma 1-2 Crystallin, gamma B hrdo:gen_id_22044 PIK3R1 PIK3R1 8979 171833 P27986 GRB1 p85 p85-ALPHA Phosphoinositide-3-kinase, regulatory subunit 1 (alpha) hrdo:gen_id_22045 CNOT3 CNOT3 7879 604910 O75175 LENG2 NOT3 NOT3 (negative regulator of transcription 3, yeast) homolog NOT3H CCR4-NOT transcription complex, subunit 3 hrdo:gen_id_22077 MGMT MGMT 7059 156569 P16455 O-6-methylguanine-DNA methyltransferase hrdo:gen_id_22085 PHKG1 PHKG1 8930 172470 Q16816 PHKG Phosphorylase kinase, gamma 1 (muscle) hrdo:gen_id_22090 SGK196 615247 Q9H5K3 Sugen kinase 196 Protein kinase-like protein SgK196 hrdo:hch_id_0 herarchy herarchy hiérarchie hrdo:hch_id_1 Orphanet Classification of Rare Diseases Classification Orphanet des maladies rares Orphanet Classification of Rare Diseases hrdo:hch_id_112 Classification of elsewhere unclassified rare diseases (Functional) Classification of elsewhere unclassified rare diseases (Functional) Classification of elsewhere unclassified rare diseases (Functional) Classification of elsewhere unclassified rare diseases (Functional) Classification of elsewhere unclassified rare diseases (Functional) Classification of elsewhere unclassified rare diseases (Functional) hrdo:hch_id_131 Clasificación de las enfermedades por acúmulo de hierro Classificatie van ijzerstapelingsziekten Classification des maladies de surcharge en fer Classification of iron overload diseases Classificazione delle malattie con sovraccarico di ferro Classificação das doenças de sobrecarga de ferro Klassifikation der Eisenstoffwechselstörungen hrdo:hch_id_132 Clasificación molecular de las canalopatías Classification moléculaire des canalopathies Classificazione molecolare delle canalopatie Classificação molecular das canalopatias Moleculaire classificatie van kanalopathieën Molecular classification of channelopathies Molekulare Klassifikation der Ionenkanalkrankheiten hrdo:hch_id_133 Canalopathies neurologiques Canalopatias neurológicas Canalopatie neurologiche Canalopatías neurológicas Neurological channelopathies Neurologische Ionenkanalkrankheiten Neurologische kanalopathieën hrdo:hch_id_134 Classification des situations cliniques particulières rares Classification of rare particular clinical situations Classification of rare particular clinical situations Classification of rare particular clinical situations Classification of rare particular clinical situations Classification of rare particular clinical situations hrdo:hch_id_140 Clasificación molecular genética de las ichtiosis Classification moléculaire des ichtyoses Classificazione genetica molecolare delle ittiosi Classificação genética molecular das ictioses Moleculaire genetische classificatie van ichthyosen Molecular genetic classification of ichthyoses Molekulargenetische Klassifikation der Ichthyosen hrdo:hch_id_141 Clasificación de las laminopatías Classificatie van laminopathieën Classification des laminopathies Classification of laminopathies Classificazione delle laminopatie Classificação das laminopatias Klassifikation der Laminopathien hrdo:hch_id_145 Clasificación de las tauopatías Classificatie van tauopathieën Classification des tauopathies Classification of tauopathies Classificazione delle tauopatie Classificação das taupatias Klassifikation der Tauopathien hrdo:hch_id_146 Clasificación de Orphanet de las enfermedades cardiacas raras Classification Orphanet des maladies cardiaques rares Classificazione di Orphanet delle malattie cardiache rare Classificação Orphanet das doenças cardíacas raras Orphanet classificatie van zeldzame hartaandoeningen Orphanet classification of rare cardiac diseases Orphanet-Klassifikation der seltenen Herzkrankheiten hrdo:hch_id_147 Clasificación de Orphanet de las anomalías del desarrollo durante la embriogénesis Classification Orphanet des anomalies du développement embryonnaire rares Classificazione di Orphanet delle anomalie dello sviluppo durante l'embriogenesi Classificação Orphanet das anomalias do desenvolvimento durante a embriogénese Orphanet classificatie van zeldzame ontwikkelingsanomalieën tijdens embryogenese Orphanet classification of rare developmental anomalies during embryogenesis Orphanet-Klassifikation der Entwicklungsdefekte während der Embryogenese hrdo:hch_id_148 Clasificación de Orphanet de las malformaciones cardiacas Classification Orphanet des malformations cardiaques rares Classificazione di Orphanet delle malformazioni cardiache Classificação Orphanet das malformações cardíacas Orphanet classificatie van zeldzame hartafwijkingen Orphanet classification of rare cardiac malformations Orphanet-Klassifikation der Herzfehlbildungen hrdo:hch_id_149 Clasificación de los trastornos graves de succión/deglución Classificatie van zuig/slikstoornissen Classification des troubles de la succion-déglutition Classification of sucking/swallowing disorders Classificazione dei disturbi della suzione/deglutizione Classificação Orphanet das anomalias da sucção/deglutição Klassifikation der Saug-/Schluckstörungen hrdo:hch_id_150 Clasificación de Orphanet de los errores innatos del metabolismo Classification Orphanet des maladies métaboliques rares Classificazione di Orphanet dei difetti congeniti del metabolismo Classificação Orphanet das doenças metabólicas Orphanet classificatie van zeldzame aangeboren stofwisselingsstoornissen Orphanet classification of rare inborn errors of metabolism Orphanet-Klassifikation der angeborenen Stoffwechselstörungen hrdo:hch_id_151 Classificatie van ciliopathieën Classification des ciliopathies Classification of ciliopathies Classification of ciliopathies (labs and research) Classification of ciliopathies (labs and research) Classification of ciliopathies (labs and research) Classificação das ciliopatias (laboratório e investigação) hrdo:hch_id_152 Clasificación de Orphanet de las enfermedades raras gastrointestinales Classification Orphanet des maladies gastroentérologiques rares Classificazione di Orphanet delle malattie gastroenterologiche rare Classificação Orphanet das doenças gastrointestinais raras Orphanet classificatie van zeldzame gastro-enterologische aandoeningen Orphanet classification of rare gastroenterological diseases Orphanet-Klassifikation der seltenen gastroenterologischen Krankheiten hrdo:hch_id_155 Clasificación de síndromes hemofagocíticos Classification des syndromes hémophagocytaires Classification of hemophagocytic syndrome Classification of hemophagocytic syndrome Classificazione della sindrome emofagocitica Klassifikation des hämophagozytischen Syndroms hrdo:hch_id_156 Clasificación de Orphanet de las enfermedades genéticas Classification Orphanet des maladies génétiques rares Classificazione di Orphanet delle malattie genetiche Classificação Orphanet das doenças genéticas Orphanet classificatie van zeldzame genetische aandoeningen Orphanet classification of rare genetic diseases Orphanet-Klassifikation der genetisch bedingten Krankheiten hrdo:hch_id_157 Clasificación molecular de las ataxias cerebelosas autosómicas dominantes Classification moléculaire des ataxies cérébelleuses autosomiques dominantes Classificazione molecolare delle atassie cerebellari autosomiche dominanti Classificação molecular das ataxias cerebelosas autossómicas dominantes Moleculaire classificatie van autosomaal dominante cerebellaire ataxieën Molecular classification of autosomal dominant cerebellar ataxias Molekulare Klassifikation der autosomal-dominanten zerebellären Ataxien hrdo:hch_id_158 Clasificación fisiopatológica de las ataxias cerebelosas autosómicas recesivas Classification physiopathologique des ataxies cérébelleuses autosomiques récessives Classificazione delle atassie cerebellari autosomiche recessive Classificação das ataxias cerebelosas autossómicas recessivas Fysiopathologische classificatie van autosomaal recessieve cerebellaire ataxieën Pathophysiologische Klassifikation der autosomal-rezessiven zerebellären Ataxien Physiopathological classification of autosomal recessive cerebellar ataxias hrdo:hch_id_160 Clasificación fisiopatológica de las distrofias musculares congénitas Classification physiopathologique des dystrophies musculaires congénitales Classificazione delle distrofie muscolari congenite Classificação das distrofias musculares congénitas Fysiopathologische classificatie van congenitale spierdystrofieën Pathophysiologische Klassifikation der kongenitalen Muskeldystrophien Physiopathological classification of congenital muscular dystrophies hrdo:hch_id_171 Clasificación etiológica de la infertilidad masculina Classification étiologique de l'infertilité masculine Classificazione eziologica dell'infertilità maschile Classificação etiológica da infertilidade masculina Etiologic classification of male infertility Etiologische classificatie van mannelijke onvruchtbaarheid Ätiologische Klassifikation der männlichen Infertilität hrdo:hch_id_181 Clasificación de Orphanet de las enfermedades raras neurológicas Classification Orphanet des maladies neurologiques rares Classificazione di Orphanet delle malattie neurologiche rare Classificação Orphanet das doenças neurológicas raras Orphanet classificatie van zeldzame neurologische aandoeningen Orphanet classification of rare neurological diseases Orphanet-Klassifikation der seltenen neurologischen Krankheiten hrdo:hch_id_182 Clasificación de Orphanet de las enfermedades quirúrgicas abdominales Classification Orphanet de maladies chirurgicales abdominales rares Classificazione di Orphanet delle malattie addominali ad interesse chirurgico Classificação Orphanet das doenças cirúrgicas abdominais Orphanet classificatie van zeldzame abdominale chirurgische aandoeningen Orphanet classification of rare abdominal surgical diseases Orphanet-Klassifikation der operationsbedingten Krankheiten (Abdominalchirurgie) hrdo:hch_id_183 Clasificación de Orphanet de las enfermedades raras hepáticas Classification Orphanet des maladies hépatiques rares Classificazione di Orphanet delle malattie epatiche rare Classificação Orphanet de doenças hepáticas raras Orphanet classificatie van zeldzame leveraandoeningen Orphanet classification of rare hepatic diseases Orphanet-Klassifikation der seltenen Leberkrankheiten hrdo:hch_id_184 Clasificación de Orphanet de las enfermedades raras respiratorias Classification Orphanet de maladies respiratoires rares Classificazione di Orphanet delle malattie respiratorie rare Classificação Orphanet de doenças respiratórias raras Orphanet classificatie van zeldzame luchtwegaandoeningen Orphanet classification of rare respiratory diseases Orphanet-Klassifikation der seltenen Atemwegskrankheiten hrdo:hch_id_185 Clasificación de Orphanet de las enfermedades raras urogenitales Classification Orphanet des maladies génito-urinaires rares Classificazione di Orphanet delle malattie urogenitali rare Classificação Orphanet das doenças urogenitais raras Orphanet classificatie van zeldzame urogenitale aandoeningen Orphanet classification of rare urogenital diseases Orphanet-Klassifikation der seltenen urogenitalen Krankheiten hrdo:hch_id_186 Clasificación de Orphanet de las enfermedades raras quirúrgicas torácicas Classification Orphanet des maladies thoraciques chirurgicales rares Classificazione di Orphanet delle malattie toraciche rare ad interesse chirurgico Classificação Orphanet das doenças torácicas cirúrgicas raras Orphanet classificatie van zeldzame chirurgische thoraxaandoeningen Orphanet classification of rare surgical thoracic diseases Orphanet-Klassifikation der seltenen operationsbedingten Krankheiten (Thoraxchirurgie) hrdo:hch_id_187 Clasificación de Orphanet de las enfermedades raras de la piel Classification Orphanet des maladies dermatologiques rares Classificazione di Orphanet delle malattie cutanee rare Classificação Orphanet das doenças dermatológicas raras Orphanet classificatie van zeldzame huidaandoeningen Orphanet classification of rare skin diseases Orphanet-Klassifikation der seltenen Hautkrankheiten hrdo:hch_id_188 Clasificación de Orphanet de las enfermedades raras renales Classification Orphanet des maladies rénales rares Classificazione di Orphanet delle malattie renali rare Classificação Orphanet das doenças renais raras Orphanet classificatie van zeldzame nieraandoeningen Orphanet classification of rare renal diseases Orphanet-Klassifikation der seltenen Nierenkrankheiten hrdo:hch_id_189 Clasificación de Orphanet de las enfermedades raras oculares Classification Orphanet des maladies ophtalmologiques rares Classificazione di Orphanet delle malattie rare dell'occhio Classificação Orphanet das doenças oftalmológicas raras Orphanet classificatie van zeldzame oogaandoeningen Orphanet classification of rare eye diseases Orphanet-Klassifikation der seltenen Augenkrankheiten hrdo:hch_id_190 Clasificación clínica del retraso mental ligado al X Classification clinique des retards mentaux liés à l'X Classificazione clinica del ritardo mentale legato all'X Classificação clínica do atraso mental ligado ao X Clinical classification of X-linked mental retardation Klinische Klassifikation der X-chromosomalen geistigen Retardierung Klinische classificatie van X-gebonden mentale retardatie hrdo:hch_id_192 Clasificación de las enfermedades metabíolicas pediátricas Classificatie van pediatrische metabole aandoeningen Classification des maladies métaboliques pédiatriques Classification of pediatric metabolic diseases Classificazione delle malattie metaboliche pediatriche Classificação das doenças metabólicas pediátricas Klassifikation der pädiatrischen Stoffwechselkrankheiten hrdo:hch_id_193 Clasificación de Orphanet de las enfermedades endocrinas raras Classification Orphanet des maladies endocriniennes rares Classificazione di Orphanet delle malattie endocrine rare Classificação Orphanet das doenças endócrinas raras Orphanet classificatie van zeldzame endocriene aandoeningen Orphanet classification of rare endocrine diseases Orphanet-Klassifikation der seltenen endokrinen Krankheiten hrdo:hch_id_194 Clasificación de Orphanet de las enfermedades raras hematológicas Classification Orphanet des maladies hématologiques rares Classificazione di Orphanet delle malattie ematologiche rare Classificação Orphanet das doenças hematológicas raras Orphanet classificatie van zeldzame hematologische aandoeningen Orphanet classification of rare hematological diseases Orphanet-Klassifikation der seltenen hämatologischen Krankheiten hrdo:hch_id_195 Clasificación de Orphanet de las enfermedades raras inmunológicas Classification Orphanet des maladies immunologiques rares Classificazione di Orphanet delle malattie immunologiche rare Classificação Orphanet das doenças imunológicas raras Orphanet classificatie van zeldzame immunologische aandoeningen Orphanet classification of rare immunological diseases Orphanet-Klassifikation der seltenen immunologischen Krankheiten hrdo:hch_id_196 Clasificación de Orphanet de las enfermedades raras sistémicas y reumatológicas Classification Orphanet des maladies systémiques et rhumatologiques rares Classificazione di Orphanet delle malattie sistemiche e reumatologiche rare Classificação Orphanet das doenças sistémicas e reumatológicas raras Orphanet classificatie van zeldzame systemische en reumatologische aandoeningen Orphanet classification of rare systemic and rheumatological diseases Orphanet-Klassifikation der seltenen systemischen und rheumatologischen Krankheiten hrdo:hch_id_197 Clasificación de Orphanet de las enfermedades raras odontológicas Classification Orphanet des maladies odontologiques rares Classificazione di Orphanet delle malattie rare ad interesse odontologico Classificação Orphanet das doenças odontológicas raras Orphanet classificatie van zeldzame odontologische aandoeningen Orphanet classification of rare odontological diseases Orphanet-Klassifikation der seltenen odontologischen Krankheiten hrdo:hch_id_198 Clasificación de Orphanet de las enfermedades raras del sistema circulatorio Classification Orphanet des maladies rares du système circulatoire Classificazione di Orphanet delle malattie rare del sistema circolatorio Classificação Orphanet das doenças raras do sistema circulatório Orphanet classificatie van zeldzame bloedsomloopaandoeningen Orphanet classification of rare circulatory system diseases Orphanet-Klassifikation der seltenen Krankheiten des Kreislaufsystems hrdo:hch_id_199 Clasificación de Orphanet de las enfermedades raras del hueso Classification Orphanet des maladies osseuses rares Classificazione di Orphanet delle malattie rare delle ossa Classificação Orphanet das doenças ósseas raras Orphanet classificatie van zeldzame botaandoeningen Orphanet classification of rare bone diseases Orphanet-Klassifikation der seltenen Knochenkrankheiten hrdo:hch_id_2 Other classification Classification experte Other classification hrdo:hch_id_200 Clasificación de Orphanet de las enfermedades raras otorrinolaringológicas Classification Orphanet des maladies oto-rhino-laryngologiques rares Classificazione di Orphanet delle malattie otorinolaringoiatriche rare Classificação Orphanet das doenças otorrinolaringológicas raras Orphanet classificatie van zeldzame otorinolaryngologische aandoeningen Orphanet classification of rare otorhinolaryngological diseases Orphanet-Klassifikation der seltenen otorhinolaryngologischen Krankheiten hrdo:hch_id_201 Clasificación de Orphanet de las enfermedades raras de infertilidad Classification Orphanet des causes rares d'infertilité Classificazione di Orphanet dei disturbi di infertilità rari Classificação Orphanet das doenças de infertilidade raras Orphanet classificatie van zeldzame onvruchtbaarheidstoornissen Orphanet classification of rare infertility disorders Orphanet-Klassifikation der seltenen Infertilitäten hrdo:hch_id_202 Clasificación de Orphanet de los tumores raros Classification Orphanet des tumeurs rares Classificazione di Orphanet dei tumori rari Classificação Orphanet dos tumores raros Orphanet classificatie van zeldzame tumoren Orphanet classification of rare tumors Orphanet-Klassifikation der seltenen Tumoren hrdo:hch_id_203 Clasificación de Orphanet de las enfermedades raras infecciosas Classification Orphanet des maladies infectieuses rares Classificazione di Orphanet delle malattie infettive rare Classificação Orphanet das doenças infecciosas raras Orphanet classificatie van zeldzame infectieziekten Orphanet classification of rare infectious diseases Orphanet-Klassifikation der seltenen infektiösen Krankheiten hrdo:hch_id_204 Clasificación de Orphanet de las intoxicaciones raras Classification Orphanet des intoxications rares Classificazione di Orphanet delle intossicazioni rare Classificação Orphanet de intoxicações raras Orphanet classificatie van zeldzame intoxicaties Orphanet classification of rare intoxications Orphanet-Klassifikation der seltenen Intoxikationen hrdo:hch_id_205 Clasificación de Orphanet de las enfermedades raras ginecológicas y obstétricas Classification Orphanet des maladies gynéco-obstétriques rares Classificazione di Orphanet delle malattie rare ad interesse ginecologico e ostetrico Classificação Orphanet das doenças ginecológicas e obstétricas raras Orphanet classificatie van zeldzame gynaecologische en obstetrische aandoeningen Orphanet classification of rare gynecological and obstetric diseases Orphanet-Klassifikation der seltenen Krankheiten der Gynäkologie und Geburtshilfe hrdo:hch_id_209 Clasificación Orphanet de enfermedades raras en cirugía maxilofacial Classification Orphanet des maladies rares en chirurgie maxillo-faciale Classificação Orphanet das doenças maxilofaciais cirúrgicas raras Orphanet classificatie van zeldzame chirurgische maxillofaciale aandoeningen Orphanet classification of rare surgical maxillo-facial diseases Orphanet classification of rare surgical maxillo-facial diseases Orphanet classification of rare surgical maxillo-facial diseases hrdo:hch_id_210 Classification des maladies maxillo-faciales chirurgicales rares (Functional) Classification of rare maxillo-facial surgical diseases (Functional) Classification of rare maxillo-facial surgical diseases (Functional) Classification of rare maxillo-facial surgical diseases (Functional) Classification of rare maxillo-facial surgical diseases (Functional) Classification of rare maxillo-facial surgical diseases (Functional) hrdo:hch_id_212 Clasificación Orphanet de enfermedades raras en alergología Classification Orphanet des allergies rares Classificação Orphanet das doenças alérgicas raras Orphanet classificatie van zeldzame allergische aandoeningen Orphanet classification of rare allergic disease Orphanet classification of rare allergic disease Orphanet classification of rare allergic disease hrdo:hch_id_215 Classification des troubles de la succion/déglutition (Functional) Classification on sucking/swallowing disorders (Functional) Classification on sucking/swallowing disorders (Functional) Classification on sucking/swallowing disorders (Functional) Classification on sucking/swallowing disorders (Functional) Classification on sucking/swallowing disorders (Functional) hrdo:hch_id_216 Clasificación Orphanet de los trastornos teratológicos Classification Orphanet des maladies d'origine tératologique rares Classificação Orphanet das doenças teratológicas Orphanet Klassifikation der teratologischen Krankheiten Orphanet classificatie van zeldzame teratologische stoornissen Orphanet classification of rare teratologic disorders Orphanet classification of teratologic disorders hrdo:hch_id_219 Clasificación morfológica de miopatías congénitas Classification morphologique des myopathies congénitales Classificação morfológica das miopatias congénitas Morfologische classificatie van congenitale myopathieën Morphological classification of congenital myopathies Morphological classification of congenital myopathies Morphologische Klassifikation der kongenitalen Myopathien hrdo:hch_id_220 Classfication des maladies non-rare d'Orphanet (Fonctionnelle) Classification of Orphanet non-rare disease Classification of Orphanet non-rare disease Classification of Orphanet non-rare disease Classification of Orphanet non-rare disease Classification of Orphanet non-rare disease (Functional) hrdo:hch_id_221 Classificatie van kwalitatieve of kwantitatieve eiwitdefecten bij neuromusculaire aandoeningen Classification des anomalies qualitatives ou quantitatives des protéines dans les maladies neuromusculaires Classification of qualitative or quantitative protein defects in neuromuscular diseases Classification of qualitative or quantitative protein defects in neuromuscular diseases Classification of qualitative or quantitative protein defects in neuromuscular diseases Classification of qualitative or quantitative protein defects in neuromuscular diseases Classificação das deficiências qualitativas ou quantitativas de proteínas em doenças neuromusculares hrdo:hch_id_222 Classificatie van Charcot-Marie-Tooth (CMT) aandoeningen Classification des maladies de Charcot-Marie-Tooth (CMT) Classification of Charcot-Marie-Tooth (CMT) diseases Classification of Charcot-Marie-Tooth (CMT) diseases Classification of Charcot-Marie-Tooth (CMT) diseases Classification of Charcot-Marie-Tooth (CMT) diseases Classificação das doenças de Charcot-Marie-Tooth (CMT) hrdo:hch_id_223 CEMARA thesaurus of rare gynecological diseases CEMARA thesaurus of rare gynecological diseases CEMARA thesaurus of rare gynecological diseases CEMARA thesaurus of rare gynecological diseases CEMARA thesaurus of rare gynecological diseases Thésaurus CEMARA Maladies gynécologiques rares hrdo:hch_id_224 CEMARA thesaurus of rare renal diseases CEMARA thesaurus of rare renal diseases CEMARA thesaurus of rare renal diseases CEMARA thesaurus of rare renal diseases CEMARA thesaurus of rare renal diseases Thésaurus CEMARA de maladies rénales rares hrdo:hch_id_225 CEMARA thesaurus of neuromuscular diseases CEMARA thesaurus of neuromuscular diseases CEMARA thesaurus of neuromuscular diseases CEMARA thesaurus of neuromuscular diseases CEMARA thesaurus of neuromuscular diseases Thésaurus CEMARA des maaldies neuromusculaires hrdo:hch_id_226 CEMARA thesaurus of rare growth diseases and sex development disorders CEMARA thesaurus of rare growth diseases and sex development disorders CEMARA thesaurus of rare growth diseases and sex development disorders CEMARA thesaurus of rare growth diseases and sex development disorders CEMARA thesaurus of rare growth diseases and sex development disorders Thésaurus CEMARA des maladies rares de la croissance et du développement sexuel hrdo:hch_id_227 Classification des maladies à prédisposition génétique (fonctionnelle) Classification of diseases associated with a genetic susceptibility (functional) Classification of diseases associated with a genetic susceptibility (functional) Classification of diseases associated with a genetic susceptibility (functional) Classification of diseases associated with a genetic susceptibility (functional) Classification of diseases associated with a genetic susceptibility (functional) hrdo:hch_id_228 Classificatie van serpinopathieën Classification des serpinopathies Classification of serpinopathies Classification of serpinopathies Classification of serpinopathies Classification of serpinopathies Classificação das serpinopatias hrdo:hch_id_229 Classificatie van chromosomale anomalieën gerangschikt per chromosoom Classification des anomalies chromosomiques classées par chromosomes Classification of chromosomal anomalies sorted by chromosomes Classification of chromosomal anomalies sorted by chromosomes Classification of chromosomal anomalies sorted by chromosomes Classification of chromosomal anomalies sorted by chromosomes Classification of chromosomal anomalies sorted by chromosomes hrdo:hch_id_230 Classification des maladies rares Classification of rare diseases Classification of rare diseases Classification of rare diseases Classification of rare diseases Classification of rare diseases hrdo:hch_id_231 Classificatie van zeldzame reumatologische aandoeningen in de kinderjaren Classification des maladies rhumatologiques rares de l'enfant Classification of rare rheumatologic diseases of childhood Classification of rare rheumatologic diseases of childhood Classification of rare rheumatologic diseases of childhood Classification of rare rheumatologic diseases of childhood Classification of rare rheumatologic diseases of childhood hrdo:hch_id_232 Classification Orphanet des maladies rares Orphanet classification of rare disorders Orphanet classification of rare disorders Orphanet classification of rare disorders Orphanet classification of rare disorders Orphanet classification of rare disorders hrdo:hch_id_3 Derived Orphanet classification Classification Orphanet linéarisée Derived Orphanet classification hrdo:hch_id_4 Other Orphanet classification Other Orphanet Classification hrdo:hch_id_40 Classification of rare cardiac diseases (Functional) Classification of rare cardiac diseases (Functional) Classification of rare cardiac diseases (Functional) Classification of rare cardiac diseases (Functional) Classification of rare cardiac diseases (Functional) Classification of rare cardiac diseases (Functional) hrdo:hch_id_41 Classification of rare gastroenterologic diseases (Functional) Classification of rare gastroenterologic diseases (Functional) Classification of rare gastroenterologic diseases (Functional) Classification of rare gastroenterologic diseases (Functional) Classification of rare gastroenterologic diseases (Functional) Classification of rare gastroenterologic diseases (Functional) hrdo:hch_id_42 Classification of rare surgical digestive diseases (Functional) Classification of rare surgical digestive diseases (Functional) Classification of rare surgical digestive diseases (Functional) Classification of rare surgical digestive diseases (Functional) Classification of rare surgical digestive diseases (Functional) Classification of rare surgical digestive diseases (Functional) hrdo:hch_id_43 Classification of rare hepatic diseases (Functional) Classification of rare hepatic diseases (Functional) Classification of rare hepatic diseases (Functional) Classification of rare hepatic diseases (Functional) Classification of rare hepatic diseases (Functional) Classification of rare hepatic diseases (Functional) hrdo:hch_id_44 Classification of rare respiratory diseases (Functional) Classification of rare respiratory diseases (Functional) Classification of rare respiratory diseases (Functional) Classification of rare respiratory diseases (Functional) Classification of rare respiratory diseases (Functional) Classification of rare respiratory diseases (Functional) hrdo:hch_id_45 Classification of rare surgical thoracic diseases (Functional) Classification of rare surgical thoracic diseases (Functional) Classification of rare surgical thoracic diseases (Functional) Classification of rare surgical thoracic diseases (Functional) Classification of rare surgical thoracic diseases (Functional) Classification of rare surgical thoracic diseases (Functional) hrdo:hch_id_46 Classification of rare surgical cardiac diseases (Functional) Classification of rare surgical cardiac diseases (Functional) Classification of rare surgical cardiac diseases (Functional) Classification of rare surgical cardiac diseases (Functional) Classification of rare surgical cardiac diseases (Functional) Classification of rare surgical cardiac diseases (Functional) hrdo:hch_id_47 Classification of rare skin diseases (Functional) Classification of rare skin diseases (Functional) Classification of rare skin diseases (Functional) Classification of rare skin diseases (Functional) Classification of rare skin diseases (Functional) Classification of rare skin diseases (Functional) hrdo:hch_id_48 Classification of rare eye diseases (Functional) Classification of rare eye diseases (Functional) Classification of rare eye diseases (Functional) Classification of rare eye diseases (Functional) Classification of rare eye diseases (Functional) Classification of rare eye diseases (Functional) hrdo:hch_id_49 Classification of rare renal diseases (Functional) Classification of rare renal diseases (Functional) Classification of rare renal diseases (Functional) Classification of rare renal diseases (Functional) Classification of rare renal diseases (Functional) Classification of rare renal diseases (Functional) hrdo:hch_id_50 Classification of rare uro-genital diseases (Functional) Classification of rare uro-genital diseases (Functional) Classification of rare uro-genital diseases (Functional) Classification of rare uro-genital diseases (Functional) Classification of rare uro-genital diseases (Functional) Classification of rare uro-genital diseases (Functional) hrdo:hch_id_51 Classification of rare endocrine diseases (Functional) Classification of rare endocrine diseases (Functional) Classification of rare endocrine diseases (Functional) Classification of rare endocrine diseases (Functional) Classification of rare endocrine diseases (Functional) Classification of rare endocrine diseases (Functional) hrdo:hch_id_52 Classification of rare haematologic diseases (Functional) Classification of rare haematologic diseases (Functional) Classification of rare haematologic diseases (Functional) Classification of rare haematologic diseases (Functional) Classification of rare haematologic diseases (Functional) Classification of rare haematologic diseases (Functional) hrdo:hch_id_53 Classification of rare immune diseases (Functional) Classification of rare immune diseases (Functional) Classification of rare immune diseases (Functional) Classification of rare immune diseases (Functional) Classification of rare immune diseases (Functional) Classification of rare immune diseases (Functional) hrdo:hch_id_54 Classification des maladies neurologiques rares (Functional) Classification of rare neurologic diseases (Functional) Classification of rare neurologic diseases (Functional) Classification of rare neurologic diseases (Functional) Classification of rare neurologic diseases (Functional) Classification of rare neurologic diseases (Functional) hrdo:hch_id_55 Classification of rare metabolic diseases (Functional) Classification of rare metabolic diseases (Functional) Classification of rare metabolic diseases (Functional) Classification of rare metabolic diseases (Functional) Classification of rare metabolic diseases (Functional) Classification of rare metabolic diseases (Functional) hrdo:hch_id_56 Classification of rare systemic and rheumatologic diseases (Functional) Classification of rare systemic and rheumatologic diseases (Functional) Classification of rare systemic and rheumatologic diseases (Functional) Classification of rare systemic and rheumatologic diseases (Functional) Classification of rare systemic and rheumatologic diseases (Functional) Classification of rare systemic and rheumatologic diseases (Functional) hrdo:hch_id_57 Classification of rare odontologic diseases (Functional) Classification of rare odontologic diseases (Functional) Classification of rare odontologic diseases (Functional) Classification of rare odontologic diseases (Functional) Classification of rare odontologic diseases (Functional) Classification of rare odontologic diseases (Functional) hrdo:hch_id_58 Classification of rare circulatory system diseases (Functional) Classification of rare circulatory system diseases (Functional) Classification of rare circulatory system diseases (Functional) Classification of rare circulatory system diseases (Functional) Classification of rare circulatory system diseases (Functional) Classification of rare circulatory system diseases (Functional) hrdo:hch_id_59 Classification of rare diseases in anesthesiology (Functional) Classification of rare diseases in anesthesiology (Functional) Classification of rare diseases in anesthesiology (Functional) Classification of rare diseases in anesthesiology (Functional) Classification of rare diseases in anesthesiology (Functional) Classification of rare diseases in anesthesiology (Functional) hrdo:hch_id_61 Classification of rare bone diseases (Functional) Classification of rare bone diseases (Functional) Classification of rare bone diseases (Functional) Classification of rare bone diseases (Functional) Classification of rare bone diseases (Functional) Classification of rare bone diseases (Functional) hrdo:hch_id_62 Classification of rare otorhinolaryngological diseases (Functional) Classification of rare otorhinolaryngological diseases (Functional) Classification of rare otorhinolaryngological diseases (Functional) Classification of rare otorhinolaryngological diseases (Functional) Classification of rare otorhinolaryngological diseases (Functional) Classification of rare otorhinolaryngological diseases (Functional) hrdo:hch_id_63 Classification of rare developmental defect during embryogenesis (Functional) Classification of rare developmental defect during embryogenesis (Functional) Classification of rare developmental defect during embryogenesis (Functional) Classification of rare developmental defect during embryogenesis (Functional) Classification of rare developmental defect during embryogenesis (Functional) Classification of rare developmental defect during embryogenesis (Functional) hrdo:hch_id_64 Classification of rare infertility disorders (Functional) Classification of rare infertility disorders (Functional) Classification of rare infertility disorders (Functional) Classification of rare infertility disorders (Functional) Classification of rare infertility disorders (Functional) Classification of rare infertility disorders (Functional) hrdo:hch_id_65 Classification of rare gynecological diseases (Functional) Classification of rare gynecological diseases (Functional) Classification of rare gynecological diseases (Functional) Classification of rare gynecological diseases (Functional) Classification of rare gynecological diseases (Functional) Classification of rare gynecological diseases (Functional) hrdo:hch_id_66 Classification of teratologic disorders (Functional) Classification of teratologic disorders (Functional) Classification of teratologic disorders (Functional) Classification of teratologic disorders (Functional) Classification of teratologic disorders (Functional) Classification of teratologic disorders (Functional) hrdo:hch_id_67 Classification of rare allergic diseases (Functional) Classification of rare allergic diseases (Functional) Classification of rare allergic diseases (Functional) Classification of rare allergic diseases (Functional) Classification of rare allergic diseases (Functional) Classification of rare allergic diseases (Functional) hrdo:hch_id_68 Classification of rare genetic diseases (Functional) Classification of rare genetic diseases (Functional) Classification of rare genetic diseases (Functional) Classification of rare genetic diseases (Functional) Classification of rare genetic diseases (Functional) Classification of rare genetic diseases (Functional) hrdo:hch_id_69 Classification of rare tumors (Functional) Classification of rare tumors (Functional) Classification of rare tumors (Functional) Classification of rare tumors (Functional) Classification of rare tumors (Functional) Classification of rare tumors (Functional) hrdo:hch_id_70 Classification of rare diseases in physical medicine and rehabilitation (Functional) Classification of rare diseases in physical medicine and rehabilitation (Functional) Classification of rare diseases in physical medicine and rehabilitation (Functional) Classification of rare diseases in physical medicine and rehabilitation (Functional) Classification of rare diseases in physical medicine and rehabilitation (Functional) Classification of rare diseases in physical medicine and rehabilitation (Functional) hrdo:hch_id_71 Classification of rare surgical neurologic diseases (Functional) Classification of rare surgical neurologic diseases (Functional) Classification of rare surgical neurologic diseases (Functional) Classification of rare surgical neurologic diseases (Functional) Classification of rare surgical neurologic diseases (Functional) Classification of rare surgical neurologic diseases (Functional) hrdo:hch_id_72 Classification of rare diseases in plastic and reconstructive surgery (Functional) Classification of rare diseases in plastic and reconstructive surgery (Functional) Classification of rare diseases in plastic and reconstructive surgery (Functional) Classification of rare diseases in plastic and reconstructive surgery (Functional) Classification of rare diseases in plastic and reconstructive surgery (Functional) Classification of rare diseases in plastic and reconstructive surgery (Functional) hrdo:hch_id_73 Classification of rare surgical orthopaedic diseases (Functional) Classification of rare surgical orthopaedic diseases (Functional) Classification of rare surgical orthopaedic diseases (Functional) Classification of rare surgical orthopaedic diseases (Functional) Classification of rare surgical orthopaedic diseases (Functional) Classification of rare surgical orthopaedic diseases (Functional) hrdo:hch_id_74 Classification of rare infectious diseases (Functional) Classification of rare infectious diseases (Functional) Classification of rare infectious diseases (Functional) Classification of rare infectious diseases (Functional) Classification of rare infectious diseases (Functional) Classification of rare infectious diseases (Functional) hrdo:hch_id_75 Classification of rare intoxication (Functional) Classification of rare intoxication (Functional) Classification of rare intoxication (Functional) Classification of rare intoxication (Functional) Classification of rare intoxication (Functional) Classification of rare intoxication (Functional) hrdo:loc_id_0 locus locus hrdo:pat_id_10 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 191390 266600 601458 604519 605225 606348 606668 606674 606675 608448 611081 612241 612244 612245 612255 612259 612261 612262 612278 612288 612354 612380 612381 612566 612639 612796 D003424 10011401 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22crohn+disease%22%5BMeSH+Terms%5D+OR+%28%28crohn+disease%5BTI%5D+OR+Crohn%27s+disease%5BTI%5D%29+NOT+medline%5BSB%5D%29 K50 206 34000006 C0010346 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 Crohn disease Crohn-Krankheit Doença de Crohn Enfermedad de Crohn Maladie de Crohn Malattia di Crohn hrdo:pat_id_1000 Normal Normal Normal Normal Normal Normal Normale Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 277180 C535984 10010670 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28vas+deferens/ab%5Bmh%5D+OR+%28Vas+deferens%5Bti%5D+%28abnormalities+OR+aplasia%5Btw%5D+OR+absence%5Btw%5D%29%29%29+bilateral%5Btw%5D Q55.4 48 275416002 C0403814 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo morphological anomaly 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Agenesia bilaterale congenita dei vasi deferenti Agenesia congénita bilateral de los conductos deferentes Agénésie congénitale bilatérale des canaux déférents Aplasia bilaterale congenita dei vasi deferenti Aplasia congénita bilateral de los conductos deferentes Aplasie congénitale bilatérale des canaux déférents CBAVD Congenital bilateral agenesis of vas deferens Congenital bilateral aplasia of vas deferens Absence congénitale bilatérale des canaux déférents Aplasia bilateral congénita dos canais deferentes Assenza bilaterale congenita dei vasi deferenti Ausencia congénita bilateral de los conductos deferentes Congenital bilateral absence of vas deferens Vas-deferens-Aplasie, bilaterale kongenitale hrdo:pat_id_1001 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 125310 D046589 10065551 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22cadasil%22%5BMeSH+Terms%5D+OR+CADASIL%5BText+Word%5D F01.1 I67.8 136 390936003 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Demenz - multiple subkortikale Infarkte, hereditäre Form Demenza ereditaria con infarti cerebrali multipli Demência - enfartes múltiplos, tipo hereditário Demência - infartes múltiplos, tipo hereditário Démence - infarctus cérébraux multiples héréditaires Hereditary multi-infarct dementia CADASIL CADASIL CADASIL CADASIL CADASIL Síndrome CADASIL hrdo:pat_id_1007 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 269700 608594 612526 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Berardinelli%5Btw%5D+lipodystrophy+OR+Lipodystrophy,+Congenital+Generalized E88.1 528 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 BSCL BSCL BSCL BSCL BSCL Beradinelli-Seip syndrome Berardinelli-Seip, síndrome de Berardinelli-Seip-Syndrom Brunzell syndrome Diabete lipoatrofico Diabetes lipoatrófica Diabetes mellitus, lipatrophischer Diabète lipoatrophique GCL GCL GCL Generalized congenital lipodystrophy LCBS Lipoatrophic diabetes Lipodistrofia generalizada congénita Lipodistrofia generalizzata congenita Lipodistrofia, generalizada congénita Lipodystrophie généralisée congénitale Lipodystrophie, generalisierte kongenitale Sindrome di Berardinelli-Seip Sindrome di Brunzell Syndrome de Berardinelli-Seip Syndrome de Brunzell Síndrome de Beradinelli-Seip Síndrome de Berardinelli-Seip Berardinelli-Seip congenital lipodystrophy Lipodistrofia congenita di Berardinelli-Seip Lipodistrofia tipo Berardinelli Lipodistrofia, tipo Berardinelli Lipodystrophie Typ Berardinelli Lipodystrophie congénitale de Berardinelli-Seip hrdo:pat_id_1009 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 301845 C537663 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28skin+diseases+OR+basal+cell+carcinoma%29+%28bazex%5Btw%5D+OR+%28follicular%5Bti%5D+atrophoderma%5Bti%5D%29%29 L98.8 113 254820002 C0346104 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atrofodermia folicular y carcinomas de células basales Atrofodermia follicolare e carcinomi basocellulari Atrophodermie folliculaire et carcinomes baso-cellulaires Atrophodermie, follikuläre - Basaliome BDCS BDCS BDCS BDCS BDCS Bazex, síndrome de Follicular atrophoderma and basal cell carcinomas Síndrome de Bazex Basex-Dupré-Christal-Syndrom Bazex-Dupré-Christol syndrome Sindrome di Bazex-Dupré-Christol Syndrome de Bazex-Dupré-Christol Síndrome de Bazex-Dupre-Christol Síndrome de Bazex-Dupré-Christol hrdo:pat_id_101 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 607631 C535495 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22absence+epilepsy%22%5BText+Word%5D+OR+%22epilepsy%2C+absence%22%5BMeSH+Terms%5D G40.3 1941 230413002 C2930918 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 EAJ Epilepsia minor juvenilis JAE Absencen-Epilepsie, juvenile Epilepsia - ausencias juveniles Epilepsia de ausências juvenil Epilepsie-absence juvénile Epilessia con assenze del giovane Juvenile absence epilepsy hrdo:pat_id_1010 100070 609782 611891 614375 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=aortic+aneurysm%2C+abdominal%5Bmajr%5D+OR+abdominal+aortic+aneurysm%5Bti%5D I71.4 86 disease Aneurisma aórtico abdominal Aneurisma de la aorta abdominal, forma familiar Aneurisma dell'aorta addominale, forma familiare Anévrysme familial de l'aorte abdominale Aortenaneurysma, abdominales, familiäre Form Familial abdominal aortic aneurysm hrdo:pat_id_1011 Normal Normal Normal Normal Normal Normal Normale Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 233300 300510 614324 D023961 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=gonadal+dysgenesis%2C46%2C+XX%5Bmh%5D+OR+%28gonadal+dysgenesis%5Btw%5D+AND+%28XX%5Bti%5D+OR+hypergonadotrop*%5Bti%5D%29%29 Q99.1 243 95198001 C0685837 C0949595 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Esporádica Esporádico Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X Sporadic Sporadic Sporadica Sporadique Sporadisch X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 46,XX complete gonadal dysgenesis 46,XX ovarian dysgenesis 46,XX pure gonadal dysgenesis 46,XX reine Gonadendysgenesie 46,XX-Gonadendysgenesie, vollständige Disgenesia gonadal completa 46,XX Disgenesia gonadal femenina XX Disgenesia gonadal pura 46,XX Disgenesia gonadica completa 46,XX Disgenesia gonadica nelle femmine XX Disgenesia gonadica pura 46,XX Disgenesia ipergonadotropica delle ovaie Disgenesia ovarica 46,XX Disgenesia ovárica 46,XX Disgenesia ovárica hipergonadotrópica Dysgénésie gonadique complète 46,XX Dysgénésie gonadique de phénotype féminin Dysgénésie gonadique pure 46,XX Dysgénésie ovarienne 46,XX Dysgénésie ovarienne hypergonadotrophique FSH-RO FSH-RO FSH-RO FSH-RO FSH-RO FSH-Resistenz der Ovarien Follicular stimulating hormone-resistant ovaries Gonadotropinresistenz der Ovarien Hypergonadotropic ovarian dysgenesis Insensibilidade ovárica à FSH Ovaie resistenti all'ormone follicolo-stimolante Ovarialdysgenesie, hypergonadotrope Ovarios resistentes a la hormona folículo estimulante Résistance ovarienne aux gonadotrophines XX Gonadendysgenesie, weibliche XX female gonadal dysgenesis XX-GD XX-GD XX-GD XX-GD XX-GD 46,XX gonadal dysgenesis Disgenesia gonadal 46,XX Disgenesia gonadal, tipo XX Disgenesia gonadica 46,XX Dysgénésie gonadique 46,XX Gonadendysgenesie, 46, XX-Typ hrdo:pat_id_1018 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 242860 614069 neant D84.8 2268 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Immunodeficiency - centromeric instability - facial anomalies Immunodefizienz-Zentromerinstabilität-faziale Anomalien-Syndrom   Imunodeficiência - instabilidade centromérica - anomalias faciais, síndrome de Inestabilidad centromérica - imunodeficiencia - dismorfia Instabilidade centromérica - imunodeficiência, síndrome de Instabilità centromerica - immunodeficienza - dismorfismi Instabilité centromérique - immunodéficience - dysmorphie Síndrome de imunodeficiência - instabilidade centromérica - anomalias faciais Síndrome de instabilidade centromérica - imunodeficiência ICF syndrome ICF-Syndrom Sindrome ICF Syndrome ICF Síndrome ICF Síndrome ICF hrdo:pat_id_102 Normal Normal Normal Normal Normal Normal Normale Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 254770 604827 607628 607682 608816 611136 611364 613060 614280 D020190 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Myoclonic+Epilepsy%2C+Juvenile%5Bmh%5D+OR+%28juvenile%5Bti%5D+AND+myoclonic+epilepsy%5Bti%5D%29 G40.3 307 6204001 C0270853 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Epilepsia mioclónica juvenil Epilepsia mioclónica juvenil Epilepsie myoclonique juvénile Epilessia mioclonica giovanile Juvenile myoclonic epilepsy Myoklonusepilepsie, juvenile hrdo:pat_id_1022 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 213300 610688 612291 614173 614424 614464 614615 614970 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=joubert+boltshauser%5Btw%5D+OR+joubert+synd*%5Btw%5D+OR+%28cerebell*%5Bti%5D+vermis%5Bti%5D+agenesis%5Bti%5D%29 Q04.3 475 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Agenesia do vermis cerebeloso CPD IV CPD IV CPD IV CPD IV Cerebelloparenchymal disorder IV Cerebeloparenquimatosa IV, doença (CPD IV) Classic Joubert syndrome Disturbo cerebelloparenchimale IV Doença cerebeloparenquimatosa IV (CPD IV) Joubert syndrome type A Joubert-Boltshauser syndrome Joubert-Boltshauser-Syndrom Joubert-Syndrom Typ A Joubert-Syndrom, reines Klassisches Joubert-Syndrom (JS) Pure Joubert syndrome Sindrome di Joubert classica Sindrome di Joubert pura Sindrome di Joubert, tipo A Sindrome di Joubert-Boltshauser Syndrome de Joubert classique Syndrome de Joubert pur Syndrome de Joubert type A Syndrome de Joubert-Boltshauser Síndrome de Joubert clásico Síndrome de Joubert puro Síndrome de Joubert-Boltshauser Zerebello-parenchymale Krankheit IV Joubert syndrome Joubert-Syndrom Sindrome di Joubert Syndrome de Joubert Síndrome de Joubert Síndrome de Joubert hrdo:pat_id_1023 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 142900 C535326 10050469 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Holt+Oram%5Btw%5D+AND+syndrome%29+OR+%28tbx5+AND+congenital+heart+defect%5Btw%5D%29 Q87.2 392 19092004 C0265264 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Atriodigital dysplasia type 1 Coração-mão, síndrome Displasia atriodigital Displasia atriodigitale Displasia auriculo-digital Dysplasie atrio-digitale type 1 Dysplasie, atriodigitale Heart-hand syndrome type 1 Herz-Hand-Syndrom Sindrome cuore-mano Syndrome cardiomélique type 1 Syndrome coeur-main type 1 Syndrome coeur-membres type 1 Síndrome coração-mão Síndrome mano-corazón Holt-Oram syndrome Holt-Oram-Syndrom Sindrome di Holt-Oram Syndrome de Holt-Oram Síndrome de Holt-Oram Síndrome de Holt-Oram hrdo:pat_id_1025 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter D044903 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hyperinsulinism%5Bmajr%5D+AND+%28pancreatic+diseases%5Bmajr%5D+OR+hypoglycemia%5Bmh%5D%29+AND+%28nesidioblastosis%5Btw%5D E16.1 657 360337007 360339005 C1257959 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 CHI CHI CHI CHI CHI HHPE Hipoglucemia hiperinsulinémica persistente de la infancia Hyperinsulinisme congénital de l'enfant Hyperinsulinämische Hypoglykämie der Kindheit, persistierende Form Hypoglycémie hyperinsulinémique persistante de l'enfant Ipoglicemia iperinsulinemica persistente neonatale PHHI PHHI PHHI PHHI PHHI Persistent hyperinsulinemic hypoglycemia of infancy Congenital isolated hyperinsulinism Hiperinsulinismo aislado congénito Hipoglicemia hiperinsulinemica persistente do lactente Hyperinsulinisme congénital isolé Hyperinsulinismus, isolierter, kongenitaler Iperinsulinismo isolato congenito hrdo:pat_id_1026 217095 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Conotruncal+AND+Heart+Defects%2C+Congenital 2445 C1857586 group of phenomes Cardiopatie troncoconali Conotruncal heart malformations Herzfehler, konotrunkaler Malformación cardíaca conotruncal Malformation cardiaque conotroncale Malformações cardíacas cono-truncais hrdo:pat_id_1030 606190 D008579 10027191 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=meningioma%5Bmajr%5D+OR+Meningioma%5Bti%5D D32.9 2495 19453003 C0025286 disease Meningeom Meningioma Meningioma Meningioma Meningioma Méningiome hrdo:pat_id_10303 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 142680 neant E85.0 32960 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Autosomal dominant periodic fever Familial hibernian fever Febbre iberniana familiare Febbre periodica, autosomica dominante Febre hiberniana familiar Febre periódica autossómica dominante Fieber, familiäres, Typ Hibernian Fieber, periodisches, autosomal-dominantes Fièvre hibernienne familiale Fièvre périodique autosomique dominante Receptor 1 do TNF, sindrome periódico associado ao Sindrome periodica associata al recettore 1 del TNF Syndrome périodique associé au récepteur 1 du TNF Síndrome periódico associado ao recetor 1 do TNF TNF receptor 1 associated periodic syndrome Tumor necrosis factor receptor 1 associated periodic syndrome Tumornekrosefaktor-Rezeptor 1-assoziiertes periodisches Fieber-Syndrom Sindrome TRAPS Syndrome TRAPS Síndrome TRAPS Síndrome TRAPS TRAPS syndrome TRAPS-Syndrom hrdo:pat_id_10305 Variabel Variabile Variable Variable Variable Variable Variável 153400 C537710 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Lymphoedema+distichiasis Q82.0 33001 8634009 C0265345 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Linfedema - distichiasi Linfedema - distiquiase Linfedema - distiquiasis Lymphedema - distichiasis Lymphoedème - distichiasis Lymphödem - Distichiasis hrdo:pat_id_10306 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 156400 C537564 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%28Jansen%27s+OR+Jansen%29+metaphyseal%29+OR+metaphyseal+dysostosis%5Bti%5D Q78.5 33067 24629003 C0265295 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Chondrodysplasie métaphysaire type Jansen Chondrodysplasie, metaphysäre, Typ Jansen Condrodisplasia metafisaria tipo Jansen Condrodisplasia metafisaria, tipo Jansen Condrodisplasia metafisária tipo Jansen Metaphyseal chondrodysplasia, Jansen type hrdo:pat_id_10307 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 607208 neant G40.4 33069 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Dravet, síndrome de EMSN Epilepsia mioclónica severa del lactante Epilepsie myoclonique sévère du nourrisson Myoklonusepilepsie, frühkindliche schwere SMEI SMEI (Schwere myoklonische Epilepsie des Kleinkindalters) Severe myoclonic epilepsy of infancy Sindrome di Dravet Síndrome de Dravet Dravet syndrome Dravet-Syndrom Epilepsia mioclónica grave do lactente Epilessia mioclonica grave del neonato Syndrome de Dravet Síndrome de Dravet hrdo:pat_id_10308 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 253290 C537378 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=multiple+pterygium+syndrome%5Btw%5D+lethal Q79.8 33108 60192008 C1854678 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Autosomal recessive lethal multiple pterygium syndrome Forme létale autosomique récessive du syndrome des ptérygium multiples LMPS LMPS Forme létale du syndrome des ptérygium multiples Lethal multiple pterygium syndrome Multiples Pterygium-Syndrom, letale Formen Sindrome degli pterigi multipli letale Síndrome de pterigium múltiple letal Síndrome pterígios múltiplos, formas letais hrdo:pat_id_1031 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 141500 602481 607516 609634 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=familial+hemiplegic+migraine%5Btw%5D+OR+%28%22classic+migraine%22%5BMeSH+Terms%5D+AND+hemiplegic%5Btw%5D%29 G43.1 569 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Emicrania emiplegica familiare o sporadica Enxaqueca hemiplégica familiar Familial or sporadic hemiplegic migraine Migraine hémiplégique familiale ou sporadique Migraña hemipléjica familiar o esporádica Migräne, hemiplegische, familiäre oder sporadische Form hrdo:pat_id_10310 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601495 612692 613500 613501 613502 613506 615214 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%28Agammaglobulinemia%5Bti%5D+OR+Agammaglobulinemia%5Bmh%5D%29+recessive%29+NOT+X+linked%5Bti%5D D80.0 33110 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Agammaglobulinemia, non-Bruton type Agammaglobulinemia, tipo no-Bruton Agammaglobulinemia, tipo non-Bruton Agammaglobulinämie (anders als Bruton-Typ) Agammaglobulinémie, type non-Bruton Agamaglobulinemia autossómica recessiva Agammaglobulinemia autosomica Agammaglobulinemia autosómica Agammaglobulinämie, autosomal-rezessive Agammaglobulinémie autosomique Autosomal agammaglobulinemia hrdo:pat_id_10311 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant C84.0 33111 277796003 C0376407 C0457002 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dermatochalasia granulomatosa Dermatochalasie granulomateuse Chalazodermie granulomateuse Granuloma chalazodérmico Granulomatosi con cutis laxa Granulomatous slack skin Haut, granulomatöse schlaffe Pele laxa granulomatosa hrdo:pat_id_10312 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Hypersomnolence%2C+Idiopathic%22%5BMeSH%5D+OR+Idiopathic+Hypersomnolence%5Bti%5D+OR+Idiopathic+hypersomnia%5BTitle/Abstract% F51.1 33208 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hypersomnie primaire Primary hypersomnia Hipersomnia idiopática Hipersónia idiopática Hypersomnie idiopathique Hypersomnie, idiopathische Idiopathic hypersomnia Ipersonnia idiopatica hrdo:pat_id_10313 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 153600 610430 D008258 10047801 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=waldenstrom+macroglobulin*%5Bti%5D+OR+Waldenstrom%27s+macroglobulin*%5Bti%5D+OR+waldenstrom+macroglobulinemia%5Bmajr%5D C88.0 33226 190817009 190818004 35562000 C0024419 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Immunocitoma linfoplasmacitico Immunocytome lymphoplasmocytaire Immunozytom, lymphoplasmozytisches Inmunocitoma linfoplasmacítico Linfoma linfoplasmacitico Linfoma linfoplasmacítico Lymphom, lymphoplasmazytäres Lymphome lymphoplasmocytaire Lymphoplasmacytic immunocytoma Lymphoplasmacytic lymphoma Macroglobulinemia de Waldenström Macroglobulinemia de Waldenström Macroglobulinemia di Waldenström Macroglobulinémie de Waldenström Makroglobulinämie Waldenström Waldenström macroglobulinemia hrdo:pat_id_10315 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 228100 613282 613387 C541083 10053219 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Non+alcoholic%5Btw%5D+OR+Nonalcoholic%5Btw%5D%29+%28steatohepatitis%5Bti%5D+OR+Fatty+Liver%5Bti%5D+OR+Fatty+Liver%5Bmh%3Anoexp%5D%29 K75.8 K76.0 33271 197315008 442685003 C0400966 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical syndrome >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 NAFLD NAFLD NASH syndrome NASH síndrome NASH, síndrome NASH-Syndrom Non-alcoholic fatty liver disease Sindrome NASH Stéato-hépatite métabolique Stéatose hépatique non alcoolique Syndrome NASH Síndrome NASH Esteato-hepatite não-alcoólica Esteatohepatitis no alcohólica Nicht-alkoholische Steatohepatitis (NASH) Non-alcoholic steatohepatitis Steatoepatite non alcolica Stéato-hépatite non alcoolique hrdo:pat_id_10316 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 148000 D012514 10023284 neant C46 33276 109385007 49937004 C0036220 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Maladie de Kaposi Kaposi's sarcoma Kaposi-Sarkom Sarcoma de Kaposi Sarcoma de Kaposi Sarcoma di Kaposi Sarcome de Kaposi hrdo:pat_id_10317 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 33314 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Infiltración linfocítica benigna cutánea de Jessner Infiltración linfocítica cutánea de Jessner-Kanof Infiltration der Haut, benigne lymphozytäre, Typ Jessner-Kanof Infiltration lymphocytaire cutanée bénigne de Jessner Infiltration lymphocytaire cutanée de Jessner-Kanof Jessner's benign lymphocytic infiltration of the skin Jessner-Kanof lymphocytic infiltration of the skin Jessnersche Lymphozytäre Infiltration der Haut Lymphozytäre Infiltration vom Typ Jessner und Kanof Infiltración linfocítica cutánea de Jessner Infiltration lymphocytaire cutanée de Jessner Infiltrazione linfocitaria cutanea di Jessner Infiltração linfocitária cutânea benigna de Jessner Jessner's lymphocytic infiltration of the skin Lymphozytäre Infiltration vom Typ Jessner und Kanof hrdo:pat_id_10318 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 267500 C538361 neant D81.0 33355 111584000 350353007 C0272167 C1282908 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 AK2 deficiency Aleucocistosi congenita Aleucocitose congénita Aleucocitosis congénita Aleucocytose congénitale Aleukozytose, kongenitale Congenital aleukocytosis De Vaal disease De Vaal, doença de De Vaal-Krankheit Deficiencia AK2 Deficit di AK2 Doença de De Vaal Déficit AK2 Déficit en AK2 Déficit immunitaire combiné sévère avec leucopénie Enfermedad de De Vaal Generalized hematopoietic hypoplasia Hipoplasia hematopoiética generalizada Hipoplasia hematopoyética generalizada Hypoplasie hématopoïétique généralisée Hypoplasie, hämatopoetische generalisierte Immundefekt, kombinierter schwerer, mit Leukopenie Immunodeficienza combinata grave con leucopenia Imunodeficiência combinada grave com leucopenia Inmunodeficiencia combinada grave con leucopenia Ipoplasia ematopoietica generalizzata Maladie de De Vaal Malattia di De Vaal Severe combined immunodeficiency with leukopenia Disgenesia reticolare Disgenesia reticular Disgenesia reticular Dysgénésie réticulaire Reticular dysgenesis Retikuläre Dysgenesie hrdo:pat_id_10319 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance C536559 D054463 10044628 neant L67.8 33364 C0740342 C1955934 group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Trichothiodystrophie Trichothiodystrophie Trichothiodystrophy Tricotiodistrofia Tricotiodistrofia Tricotiodistrofia (termo genérico) hrdo:pat_id_1032 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 151100 611554 613707 C537116 D044542 10062901 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22leopard+syndrome%22%5BMH%5D+OR+Leopard+syndrome%5BTi%5D Q87.8 500 111306001 403537000 C0175704 C2931424 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cardiomyopathic lentiginosis Familial multiple lentigines syndrome Lentigginosi cardiomiopatica Lentiginose cardiomiopática Lentiginose cardiomyopathique Lentiginose, kardiomyopathische Lentiginosis cardiomiopática Multiple-Lentigines-Syndrom Sindrome da lentiggini multiple familiare Syndrome des lentigines multiples familial Síndrome familiar de lentigos múltiples LEOPARD syndrome LEOPARD-Syndrom Sindrome LEOPARD Syndrome LEOPARD Síndrome LEOPARD Síndrome LEOPARD hrdo:pat_id_10320 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Hepatocellular+carcinoma%5Bmajr%5D+%28child%5Bmh%5D+OR+children%5Bti%5D+OR+infant%5Bmh%5D%29 C22.0 33402 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Carcinoma epatocellulare a esordio infantile Carcinoma hepatocelular Carcinoma hepatocelular de aparición en la infancia Hepatocellular carcinoma, childhood-onset Hépatocarcinome de l'enfant Karzinom, hepatozelluläres, im Kindesalter hrdo:pat_id_10321 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 10056960 L43.1 33408 6111009 C0023648 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Lichen planus bullosus Bullous lichen planus Lichen bulleux Lichen bullosus Lichen piano bolloso Liquen plano ampollar Líquen plano bolhoso hrdo:pat_id_10322 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 151590 10024434 neant L90.0 33409 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Lichen scleroatrofico Lichen sclerosus et atrophicus Lichen sclerosus et atrophicus Lichen scléroatrophique Liquen escleroatrófico Lichen scleroso Lichen sclerosus Lichen sclerosus Lichen scléreux Liquen escleroso Líquen esclerosante hrdo:pat_id_10323 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 256710 C536203 33445 C1860157 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Doença melano-lisossomal neuroectodérmica Elejalde disease Elejalde-Krankheit Enfermedad de Elejalde Maladie d'Elejalde Malattia di Elejalde Melano-lisossomal neuroectodérmica, doença Enfermedad neuroectodérmica melanolisosomal Maladie neuro-ectodermique mélano-lysosomale Malattia neuroectodermica melanolisosomiale Neuroectodermal melanolysosomal disease Neuroektodermale melanolysosomale Krankheit Síndrome de Elejalde hrdo:pat_id_10324 D008585 10027249 neant A39.0+ G01* 33475 192644005 C0025294 disease Meningite da meningococci Meningite meningocócica Meningitis meningocócica Meningococcal meningitis Meningokokkenmeningitis Méningite à méningocoques hrdo:pat_id_10326 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 148840 D017593 10053712 G47.8 33543 111488004 C0206085 disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Kleine-Levin syndrome Kleine-Levin-Syndrom Sindrome di Kleine-Levin Syndrome de Kleine-Levin Síndrome de Kleine-Levin Síndrome de Kleine-Levin hrdo:pat_id_10327 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 260005 C535322 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%285+oxoprolinase+deficien*%5Btw%5D+OR+pyroglutamate+hydrolase/df%29+NOT+glutathione+synth*%5Bti%5D E72.8 33572 26132002 C0268525 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficiencia de 5-oxoprolinasa Oxoprolinuria da deficit di oxoprolinasi Oxoprolinuria due to oxoprolinase deficiency Oxoprolinuria por deficiencia de oxoprolinasa Oxoprolinuria por déficit de oxoprolinasa Oxoprolinurie durch Oxoprolinase-Mangel Oxoprolinurie liée à un déficit en oxoprolinase 5-Oxoprolinase-Mangel 5-oxoprolinase deficiency Deficit di 5-oxoprolinasi Deficiência de 5-oxoprolinase Déficit de 5-oxoprolinasa Déficit en 5-oxoprolinase hrdo:pat_id_10328 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 231950 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=glutamyl+transpeptidase+deficien*%5Btw%5D+OR+gamma-Glutamyltransferase/df E72.8 33573 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficiencia de gamma-glutamil transpeptidasa Glutathionuria Glutathionurie Glutathionurie Glutationuria Glutationuria Deficit di gamma-glutamil transpeptidasi Deficiência de gama-glutamil transpeptidase Déficit de gamma-glutamil transpeptidasa Déficit en gamma-glutamyl transpeptidase Gamma-Glutamyltranspeptidase-Mangel Gamma-glutamyl transpeptidase deficiency hrdo:pat_id_10329 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 230450 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28glutamylcysteine+synthetase+defic*%5Btw%5D+OR+Glutamate+Cysteine+Ligase/df%29+NOT+Glutathione+Synthase/df D55.1 33574 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficit di glutammato-cisteina ligasi Deficiência de glutamato-cisteína ligase Déficit en glutamate-cystéine ligase Gamma-Glutamylcystein-Ligase-Mangel Glutamate-cysteine ligase deficiency Glutamato-cisteína ligase, deficiência de Deficit di gamma-glutamilcisteina sintetasi Deficiência de gama-glutamilcisteína sintetase Déficit de gamma-glutamilcisteína sintetasa Déficit en gamma-glutamylcystéine synthétase Gamma-Glutamylcystein-Synthetase-Mangel Gamma-glutamylcysteine synthetase deficiency hrdo:pat_id_1033 Variabel Variabile Variable Variable Variable Variable Variável 608207 D007896 10024198 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=leishmaniasis%5Bmajr%5D+OR+Leishmaniasis%5Bti%5D B55 507 80612004 C0023281 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Leishmaniasis Leishmaniose Leishmaniose Leishmaniose Leishmaniosi Leishmaniosis hrdo:pat_id_10330 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D010201 10047883 M35.6 33577 33760009 C0030328 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Enfermedad de Weber-Christian (WCD) Idiopathic lobular panniculitis Idiopathic nodular panniculitis Maladie de Weber-Christian Malattia di Weber-Christian (WCD) Paniculite de Weber-Christian Paniculitis febril nodular recurrente Paniculitis febril nodular recurrente no supurativa Paniculitis idiopática lobular Paniculitis idiopática nodular Panniculite de Weber-Christian Panniculite di Weber-Christian Panniculite lobulaire idiopathique Panniculite lobulare idiopatica Panniculite nodulaire fébrile récurrente Panniculite nodulaire fébrile récurrente non suppurative Panniculite nodulaire idiopathique Panniculite nodulare borreliosica Panniculite nodulare borreliosica non suppurativa Panniculite nodulare idiopatica Pannikulitis, febrile nichteitrige noduläre rekurrierende Pannikulitis, febrile noduläre rekurrierende Pannikulitis, idiopathische lobuläre Pannikulitis, idiopathische noduläre Pfeiffer-Weber-Christian syndrome Pfeiffer-Weber-Christian-Syndrom Relapsing febrile nodular nonsuppurative panniculitis Relapsing febrile nodular panniculitis Sindrome di Pfeiffer-Weber-Christian Syndrome de Pfeiffer-Weber-Christian Síndrome de Pfeiffer-Weber-Christian WCD WCD (Weber-Christian disease) Weber-Christian Pannikulitis Weber-Christian disease Weber-Christian panniculitis Nodular non-suppurative panniculitis Paniculite não-supurativa nodular Paniculitis nodular no supurativa Panniculite nodulaire non suppurative Panniculite nodulare non suppurativa Pannikulitis, noduläre nichteitrige hrdo:pat_id_10331 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 161950 613944 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=IGA+nephropathy%5Bti%5D+OR+iga+glomerulonephritis%5Bti%5D+OR+Berger+disease%5Bti%5D+OR+glomerulonephritis%2C+iga%5Bmh%5D N02 34145 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 IgA nephropathy IgA-Nephropathie Nefropatia da IgA Nefropatia de IgA Nefropatía por depósito de IgA Néphropathie à IgA Berger disease Berger, enfermedad de Berger-Krankheit Doença de Berger Maladie de Berger Malattia di Berger hrdo:pat_id_10332 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 174000 603860 609886 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%28medullary+cystic+kidney%5Btw%5D+dominant%29+OR+Polycystic+Kidney+Autosomal+Dominant%29+%28Kidney+Medulla+OR+medullary%29 Q61.5 34149 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Autosomal dominant nephronophthisis Nefronoptise autossómica dominante Nephronophthise, autosomal-dominante Néphronophtise autosomique dominante Autosomal dominant medullary cystic kidney disease with or without hyperuricemia Doença renal medular quística autossómica dominante Enfermedad quística medular autosómica dominante Maladie kystique de la médullaire autosomique dominante, avec ou sans hyperuricémie Malattia cistica della midollare renale, autosomica dominante, con o senza iperuricemia Nierenkrankheit, medulläre zystische, autosomal-dominante, mit oder ohne Hyperurikämie hrdo:pat_id_10333 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601214 C538346 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Naxos+disease%5Btw%5D+OR+keratosis%2C+palmoplantar+%28woolly+hair+OR+cardiomyopathy%29 Q87.8 34217 C1832600 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cheratoderma palmoplantare con cardiomiopatia aritmogena Cheratosi palmoplantare con cardiomiopatia aritmogena Hiperqueratosis palmoplantar con miocardiopatía arritmogénica Hyperkératose palmoplantaire - cardiomyopathie arythmogène Ipercheratosi palmoplantare con cardiomiopatia aritmogena Keratosis palmoplantaris - arrhythmogene Kardiomyopathie Keratosis palmoplantaris with arrythmogenic cardiomyopathy Kératodermie palmoplantaire - cardiomyopathie arythmogène Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy Palmoplantar keratoderma with arrythmogenic cardiomyopathy Queratodermia palmoplantar con miocardiopatía arritmogénica Queratose palmo-plantar com miocardiopatia arritmogénica Queratosis palmoplantar con miocardiopatía arritmogénica Doença de Naxos Enfermedad de Naxos Maladie de Naxos Malattia di Naxos Naxos disease Naxos-Krankheit hrdo:pat_id_10335 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter C537629 10067378 neant E13 E28.2 34412 C1963745 disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Hiperandrogenia-insulino-resistente-acanthosis nigricans Hiperandrogenismo - resistência à insulina - acantose nigricans, síndrome Hyperandrogenic-insulin resistant-acanthosis nigricans syndrome Hyperandrogénie - insulino-résistance - acanthosis nigricans Sindrome da acanthosis nigricans iperandrogenica insulino-resistente Síndrome hiperandrogenismo - resistência à insulina - acantose nigricans HAIR-AN syndrome HAIR-AN-Syndrom HAIRAN síndrome Sindrome HAIR-AN Syndrome HAIR-AN Síndrome HAIRAN hrdo:pat_id_10336 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 601954 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(muscular+dystroph*%5Bti%5D+OR+Muscular+Dystrophies%5Bmh%5D)+(IIG%5Btw%5D+OR+LGMD2G%5Btw%5D+OR+LGMD+2G%5Btw%5D+OR+17q11+OR+telethonin) G71.0 34514 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Distrofia muscolare dei cingoli da deficit di teletonina Distrofia muscular das cinturas por deficiência de teletonina Distrofia muscular de cinturas por déficit de teletonina Dystrophie musculaire des ceintures par déficit en téléthonine Gliedergürtelmuskeldystrophie durch Telethonin-Mangel LGMD2G LGMD2G LGMD2G LGMD2G LGMD2G Limb girdle muscular dystrophy due to telethonin deficiency Autosomal recessive limb-girdle muscular dystrophy type 2G Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2G Distrofia muscular das cinturas autossómica recessiva tipo 2G Distrofia muscular de cinturas autosómica recesiva tipo 2G Dystrophie musculaire des ceintures autosomique récessive type 2G Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2G hrdo:pat_id_10337 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 607155 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(muscular+dystroph*%5BTw%5D+OR+muscular+dystrophies%5BMH%5D)+(2i%5Btw%5D+OR+LGMD2i%5Btw%5D) G71.0 34515 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Atrofia muscolare dei cingoli da deficit di FKRP Distrofia muscular das cinturas por deficiência de FKRP Distrofia muscular de cinturas y extremidades por deficiencia de FKRP Distrofia muscular de cinturas y extremidades por déficit de FKRP Dystrophie musculaire des ceintures par déficit en FKRP Gliedergürtelmuskeldystrophie durch FKRP (Fukutin-related Protein)-Mangel LGMD2I LGMD2I LGMD2I LGMD2I LGMD2I Limb girdle muscular dystrophy due to FKRP deficiency Autosomal recessive limb-girdle muscular dystrophy type 2I Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2I Distrofia muscular das cinturas autossómica recessiva tipo 2I Distrofia muscular de cinturas y extremidades autosómica recesiva tipo 2l Dystrophie musculaire des ceintures autosomique récessive type 2I Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2I hrdo:pat_id_10338 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 603511 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28muscular+dystroph*%5BTi%5D+OR+muscular+dystrophies%5BMH%5D%29+%28Id%5Btw%5D+OR+1d%5Btw%5D%29+OR+LGMD1d%5Btw%5D G71.0 34516 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 LGMD1D LGMD1D LGMD1D LGMD1D LGMD1D Autosomal dominant limb-girdle muscular dystrophy type 1D Distrofia muscolare dei cingoli, autosomica dominante, tipo 1D Distrofia muscular das cinturas autossómica dominante tipo 1D Distrofia muscular de cinturas autosómica dominante tipo 1D Dystrophie musculaire des ceintures autosomique dominante type 1D Gliedergürtelmuskeldystrophie, autosomal-dominante, Typ 1D hrdo:pat_id_10339 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%28muscular+dystroph*%5BTw%5D+OR+muscular+dystrophies%5BMH%5D%29+AND+%28Ie%5Btw%5D+OR+1e%5Btw%5D%29%29+OR+LGMD1e%5Btw%5D G71.0 34517 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 LGMD1E LGMD1E LGMD1E LGMD1E LGMD1E Autosomal dominant limb-girdle muscular dystrophy type 1E Distrofia muscolare dei cingoli, autosomica dominante, tipo 1E Distrofia muscular das cinturas autossómica dominante tipo 1E Distrofia muscular de cinturas autosómica dominante tipo 1E Dystrophie musculaire des ceintures autosomique dominante type 1E Gliedergürtelmuskeldystrophie, autosomal-dominante, Typ 1E hrdo:pat_id_10342 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613204 neant G71.2 34520 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Congenital muscular dystrophy with integrin deficiency Distrofia muscolare congenita con deficit di integrina Distrofia muscular congénita con déficit de integrina Distrofia muscular congénita por deficiência de integrina Dystrophie musculaire congénitale par déficit en intégrine Muskeldystrophie, kongenitale, mit Integrin-Defizienz hrdo:pat_id_10343 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 607569 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=distal+myopathy+respiratory+muscle+chinnery G71.0 34521 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Distal myopathy with early respiratory muscle involvement Miopatia distal com envolvimento precoce dos músculos respiratórios Miopatia distale con coinvolgimento precoce dei muscoli respiratori Miopatía distal con afectación respiratoria precoz Myopathie distale avec atteinte respiratoire précoce Myopathie, distale, mit früher Beteiligung der Atemmuskulatur hrdo:pat_id_10344 neant E83.4 34526 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo group of phenomes Familial primary hypomagnesemia Hipomagnesemia primaria familiar (término genérico) Hipomagnesemia primária hereditária (termo genérico) Hypomagnesiämie, familiäre primäre Hypomagnésémie primaire familiale Ipomagnesemia ereditaria primitiva hrdo:pat_id_10345 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 611718 613882 neant E83.4 34527 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 HOMG4 Hypomagnesiämie, renale, Typ 4 Familial primary hypomagnesemia with normocalcuria and normocalcemia Hipomagnesemia com normocalciúria Hipomagnesemia primaria familiar con normocalciuria y normocalcemia Hypomagnesiämie mit Normokalziurie Hypomagnésémie primaire familiale avec normocalcurie et normocalcémie Ipomagnesemia primitiva familiare con normocalciuria e normocalcemia hrdo:pat_id_10346 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Variabel Variabile Variable Variable Variable Variable Variável 154020 E83.4 34528 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 HOMG2 HOMG2 HOMG2 HOMG2 HOMG2 Hipomagnesemia renal tipo 2 Hypomagnesiämie mit Hypokalziurie Hypomagnesiämie, renale, Typ 2 Hypomagnésémie rénale type 2 Ipomagnesemia renale, tipo 2 Renal hypomagnesemia type 2 Autosomal dominant primary hypomagnesemia with hypocalcuria Hipomagnesemia com hipocalciúria Hipomagnesemia primaria autosómica dominante con hipocalciuria Hypomagnesiämie, isolierte, dominate Form Hypomagnésémie primaire autosomique dominante avec hypocalcurie Ipomagnesemia primitiva autosomica dominante con ipocalciuria hrdo:pat_id_10347 Variabel Variabile Variable Variable Variable Variable Variável D003317 10011005 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=corneal+dystrophies,+hereditary%5Bmh%5D+OR+corneal+dystroph*%5Bti%5D H18.5 34533 5587004 77797009 C0010036 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Esporádica Esporádico Herencia mitocondrial Hérédité mitochondriale Ligado ao X recessivo Mitochondrial inheritance Mitochondrial inheritance Mitochondriale Vererbung Modo de hereditariedade mitocondrial Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X Sporadic Sporadic Sporadica Sporadique Sporadisch Trasmissione mitocondriale X-chromosomal-rezessiv X-linked recessive X-linked recessive group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Corneal dystrophy Distrofia corneal Distrofia corneale Distrofia da córnea Dystrophie cornéenne Hornhautdystrophie hrdo:pat_id_10348 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 300257 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Glycogen+storage+disease+%28IIb+OR+LAMP+2%5Btw%5D%29+OR+Danon+disease%5Btw%5D+OR+%28X+linked%5Btw%5D+vacuolar+cardiomyopathy%5Btw%5D%29 E74.0 34587 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Danon disease Danon, doença de Danon-Krankheit Doença de Danon GSD due to LAMP-2 deficiency Glicogenose lisossomal com actividade normal da maltase ácida Glicogenose lisossomal com atividade normal da maltase ácida Glycogenosis due to LAMP-2 deficiency Glycogénose lysosomale à activité maltase acide normale Glykogen-Speicherkrankheit, lysosomale mit normaler saure Maltase-Aktivität Lysosomal glycogen storage disease with normal acid maltase activity Maladie de Danon Malattia da accumulo lisosomiale di glicogeno con maltasi acida normale Malattia di Danon Enfermedad de almacenamiento de glucógeno por déficit de LAMP-2 Glicogenose por deficiência de LAMP-2 Glicogenosi da deficit di LAMP2 Glycogen storage disease due to LAMP-2 deficiency Glycogénose par déficit en LAMP-2 Glykogenose durch LAMP-2-Mangel hrdo:pat_id_10349 604571 neant D81.6 34592 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease BLS (Bare Lymphocyte Syndrome) Typ I Bare lymphocyte syndrome type 1 Sindrome dei linfociti nudi, tipo 1 Syndrome des lymphocytes dénudés type I Síndrome del linfocito desnudo tipo 1 Défice da expressão de HLA classe 1 Immundefekt durch fehlerhafte Expression HLA-Klasse-I-Antigene Immunodeficiency by defective expression of HLA class 1 Immunodeficienza da deficit di espressione delle molecole HLA di classe 1 Immunodéficience par déficit d'expression des molécules HLA de classe 1 Inmunodeficiencia por expresión deficiente del HLA de clase 1 hrdo:pat_id_10358 Variabel Variabile Variable Variable Variable Variable Variável 602079 C536561 10068233 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Trimethylaminuria+OR+fish+odour+syndrome%5Btw%5D+OR+fish+odor+syndrome%5Btw%5D E88.8 35056 237959005 C0342739 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cheiro a peixe, síndrome do Fischgeruch-Syndrom Fish-odor syndrome Fish-odor syndrome Sindrome dell'odore di pesce Syndrome de l'odeur de poisson Síndrome do cheiro a peixe Trimethylaminuria Trimethylaminurie Trimetilaminuria Trimetilaminuria Trimetilaminúria Triméthylaminurie hrdo:pat_id_10359 35061 disease Herpes cutaneo idiopatico ricorrente e invalidante Herpes cutáneo recidivante e incapacitante idiopático Herpes cutâneo recorrente e incapacitante idiopático Herpes-Infektion der Haut, rekurrente idiopathische Herpès cutané idiopathique récidivant et délabrant Idiopathic recurrent and disabling cutaneous herpes hrdo:pat_id_1036 246300 607572 609888 610988 613223 613407 D007918 10024229 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=leprosy%5Bmajr%5D+OR+Leprosy%5Bti%5D A30 548 81004002 C0023343 disease Lebbra Lepra Lepra Lepra Leprosy Lèpre hrdo:pat_id_10360 35062 disease Idiopathic infection disseminated by cytomegalovirus Infección diseminada por citomegalovirus, idiopática Infection disséminée à cytomégalovirus idiopathique Infezione idiopatica da citomegalovirus disseminata Infeção disseminada por citomegalovirus idiopática Zytomegalievirus-Infektion, disseminierte idiopathische hrdo:pat_id_10361 35063 disease Epatite virale fulminante Fulminant viral hepatitis Hepatite vírica fulminante Hepatitis viral fulminante Hépatite virale fulminante Virushepatitis, fulminante hrdo:pat_id_10362 35064 group of phenomes Infección viral letal idiopática Infection virale létale idiopathique Infezione virale idiopatica letale Infeção vírica letal idiopática Lethal idiopathic viral infection Virusinfektion, idiopathische letale hrdo:pat_id_10363 neant A40.3 35065 disease Idiopathic severe pneumococcemia Neumococcemia grave idiopática Pneumococcemia idiopatica grave Pneumococcie grave idiopathique Pneumococemia grave idiopática Pneumokokkämie, schwere idiopathische hrdo:pat_id_10364 neant B37 35066 disease Idiopathic cutaneous and mucosal candidosis Candidiasi mucocutanea idiopatica cronica Candidiasis mucocutánea idiopática Candidose cutaneo-mucosa idiopática Candidose cutanéo-muqueuse idiopathique Candidose der Haut und Schleimhaut, idiopathische Idiopathic cutaneous and mucosal candidiasis hrdo:pat_id_10365 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 256600 610217 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Neuroaxonal+dystrophy+infantile+OR+Seitelberger+Disease%5Btw%5D G23.0 35069 52713000 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 DNAI Doença de Seitelberger INAD INAD INAD INAD INAD INAD1 INAD1 INAD1 INAD1 Karak-Syndrom Maladie de Seitelberger Malattia di Seitelberger Neurodegeneración asociada a PLA2G6 Neurodegenerazione PLA2G6-associata PLA2G6-assoziierte Neurodegeneration PLAN PLAN PLAN Seitelberger Krankheit Seitelberger disease Seitelberger, doença de Distrofia neuroassonale infantile Distrofia neuroaxonal do lactente Distrofia neuroaxonal infantil Dystrophie neuro-axonale infantile Infantile neuroaxonal dystrophy Infantile neuroaxonale Dystrophie hrdo:pat_id_10366 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 600802 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Severe+combined+immunodeficiency%5Bti%5D+OR+Severe+combined+immunodeficiency%5Bmh%5D%29+%28JAK3%5Btiab%5D+OR+Janus+kinase+3%5Btiab%5D%29 D81.2 35078 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo etiological subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Déficit immunitaire combiné sévère T- B+ par déficit en JAK3 Immundefekt, kombinierter schwerer, T- B+ infolge JAK3-Mangel Immunodeficienza grave combinata T- B+ da deficit di JAK3 Imunodeficiência combinada grave, T- B+ por deficiência de JAK3 Inmunodeficiencia combinada grave T- B+ debida al déficit de JAK3 Severe combined immunodeficiency T- B+ due to JAK3 deficiency hrdo:pat_id_10367 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 123100 neant Q75.0 35093 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Dolichocéphalie isolée Dolichozephalie, isolierte Dolicocefalia Dolicocefalia isolata Isolated dolichocephaly Nonsyndromic sagittal synostosis Sagittalnaht-Synostose, nicht-syndromale Sinostosi sagittale non sindromica Synostose sagittale non syndromique Escafocefalia Escafocefalia aislada Isolated scaphocephaly Scafocefalia isolata Scaphocéphalie isolée Skaphokephalie, isolierte hrdo:pat_id_10368 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance Q67.3 35098 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Nonsyndromic unicoronal synostosis Plagiocefalia sinostotica Plagiocéphalie synostotique Plagiozephalie, synostotische Sinostosi monocoronale non sindromica Synostose unicornale non syndromique Synostose, bikoronare nicht-syndromale Synostotic plagiocephaly Isolated plagiocephaly Plagiocefalia Plagiocefalia aislada Plagiocefalia sinostotica isolata Plagiocéphalie isolée Plagiozephalie, isolierte hrdo:pat_id_10369 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q75.0 35099 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Nonsyndromic bicoronal synostosis Sinostosi bicoronale non sindromica Synostose bicornale non syndromique Synostose, bikoronare nicht-syndromale Brachicefalia isolata Brachycéphalie isolée Brachyzephalie, isolierte Braquicefalia Braquicefalia aislada Isolated brachycephaly hrdo:pat_id_10370 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 602398 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Desmosterolosis%5BAll+Fields%5D Q87.8 35107 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Desmosterolose Desmosterolose Desmosterolosi Desmosterolosis Desmosterolosis Desmostérolose hrdo:pat_id_10371 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 266120 neant D55.3 35120 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Anemia emolitica da deficit di pirimidina 5' nucleotidasi Anemia hemolítica por déficit de pirimidina 5' nucleotidasa Anémie hémolytique par déficit en pyrimidine 5' nucléotidase Deficiência de pirimidina 5' nucleotidase Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency Hämolytische Anämie durch Pyrimidin-5'-Nukleotidase-Mangel hrdo:pat_id_10372 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 200950 E83.3 35121 57863006 C0268410 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acid phosphatase deficiency Deficit di fosfatasi acida Deficiência de fosfatase ácida Déficit de fosfatasa ácida Déficit en phosphatase acide Saure Phosphatase-Mangel hrdo:pat_id_10373 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 222900 C538139 10066387 neant E74.3 35122 78373000 C1283620 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 CSID CSID CSID CSID Congenital sucrase-isomaltose malabsorption Congenital sucrose intolerance DSIC Deficiência de sacarase e isomaltase Disaccharide intolerance Intolerancia a la sacarosa, congénita Intolerancia a los disacáridos Intolleranza ai disaccaridi Intollerenza congenita al sucrosio Intolérance aux disaccharides Intolérance congénitale au sucrose Malabsorción congénita de sacarosa-isomaltosa Malabsorption congénitale du sucrose et isomaltose Malassorbimento congenito di sucrasi-isomaltasi Sacarase e isomaltase, deficiência de Congenital sucrase-isomaltase deficiency Deficit congenito di sucrasi-isomaltasi Déficit congénito de sacarasa-isomaltasa Déficit en sucrase-isomaltase congénitale Intolerância aos dissacarídeos Saccharase-Isomaltase-Mangel, kongenitaler hrdo:pat_id_10374 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300438 C536080 neant E71.3 35123 237998000 C0342785 C1845517 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown 17-beta-HSD-Mangel 17b-hidroxisteróide desidrogenase tipo 10, deficiência de 17b-hydroxysteroid dehydrogenase deficiency type 10 2-Methyl-3-Hydroxybutyryl-CoA-Dehydrogenase-Mangel 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency 2-metil-3-hidroxibutiril-CoA desidrogenase, deficiência de 3-Hydroxy-2-Methylbutyrat-CoA-Dehydrogenase-Mangel 3-hidroxi-2-metilbutiril-CoA desidrogenase, deficiência de 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency Deficiencia de 17-b hidroxiesteroide dehidrogenasa, tipo 10 Deficiencia de 2-metil-3-hidroxibutiril-CoA dehidrogenasa Deficiencia de 3-hidroxi-2-methilbutiril-CoA dehidrogenasa Deficiencia de HSD Deficiencia de MHBD Deficiencia de SCHAD Deficit di 17b-idrossisteroido deidrogenasi, tipo 10 Deficit di 2-metil-3-idrossibutiril-CoA deidrogenasi Deficit di 3-idrossi-2-metilbutiril-CoA deidrogenasi Deficit di HSD Deficit di MHBD Deficit di SCHAD Deficiência de 17b-hidroxisteróide desidrogenase tipo 10 Deficiência de 2-metil-3-hidroxibutiril-CoA desidrogenase Deficiência de 3-hidroxi-2-metilbutiril-CoA desidrogenase Deficiência de HSD Deficiência de MHBD Deficiência de SCHAD Déficit de SCHAD Déficit en 17b-hydroxystéroïde déshydrogénase type 10 Déficit en 2-méthyl-3-hydroxybutyryl-CoA déshydrogénase Déficit en 3-hydroxy-2-méthylbutyryl-CoA déshydrogénase Déficit en HSD Déficit en MHBD Déficit en SCHAD HSD deficiency HSD, deficiência de MHBD deficiency MHBD, deficiência de MHBD-Mangel SCHAD deficiency SCHAD, deficiência de SCHAD-Mangel 3-Hydroxyacyl-CoA-Dehydrogenase, Kurzketten-, Mangel Deficiencia de 3-hidroxiacil-CoA dehidrogenasa, de cadena corta Deficit di 3-idrossiacil-CoA deidrogenasi degli acidi grassi a catena corta Deficiência de 3-hidroxilacil-CoA desidrogenase de cadeias curtas Déficit en 3-hydroxyacyl-CoA déshydrogénase des acides gras à chaîne courte Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency hrdo:pat_id_10375 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance C536114 D054000 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Epidermal+nevus+syndrome%5Btw%5D+OR+Solomon+syndrome%5Btw%5D Q85.8 35125 239107007 25201003 C0334082 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Epidermal hamartoma syndrome Hamartoma epidérmico, síndrome do Sindrome dell'amartoma epidermico Solomon, síndrome de Syndrom des epidermalen Hamartoms Syndrome de l'hamartome épidermique Síndrome de Solomon Síndrome de Solomon Síndrome del hamartoma epidérmico Síndrome do hamartoma epidérmico Epidermal nevus syndrome Sindrome del nevo epidermico Syndrom des epidermalen Naevus Syndrome du nevus épidermique Síndrome de nevus épidérmico Síndrome do nevo epidérmico hrdo:pat_id_10376 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 302960 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28chondrodysplasia+punctata%5Bmh%5D+OR+chondrodysplasia+punctata%5Btw%5D%29+AND+x+linked%5Btw%5D+AND+dominant%5Btw%5D Q77.3 35173 398719004 398958000 66924005 C0263627 C0282102 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 CDPX2 CDPX2 CDPX2 CDPX2 CDPX2 Calcinose universal Chondrodystrophia calcificans congenita Chondrodystrophia calcificans congenita Chondrodystrophie congénitale calcifiante Condrodistrofia calcificante congenita Condrodistrofia calcificante congénita Condrodistrofia calcificante congénita Condrodistrofia congénita calcificante Conradi-Hünermann-Happle syndrome Conradi-Hünermann-Happle, síndrome de Conradi-Hünermann-Happle-Syndrom Sindrome di Conradi-Hünermann-Happle Syndrome de Conradi-Hünermann-Happle Síndrome de Conradi-Hünermann-Happle Síndrome de Conradi-Hünermann-Happle Chondrodysplasia punctata, dominante X-chromosomale Chondrodysplasie ponctuée dominante liée à l'X Condrodisplasia pontuada, ligada ao X dominante Condrodisplasia punctata dominante ligada al X Condrodisplasia puntata dominante legata all'X X-linked dominant chondrodysplasia punctata hrdo:pat_id_10378 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 600165 609549 611897 neant Q11.2 35612 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Nanoftalmia Nanoftalmia Nanoftalmia Nanophtalmie Nanophthalmia Nanophthalmie hrdo:pat_id_10380 Variabel Variabile Variable Variable Variable Variable Variável neant 35656 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CoQ10 deficiency CoQ10-Mangel Deficit di CoQ10 Déficit de CoQ10 Déficit en CoQ10 Coenzym Q10-Mangel Coenzyme Q 10 deficiency Deficit di coenzima Q10 Deficiência de coenzima Q10 (CoQ10) Déficit de coenzima Q 10 Déficit en coenzyme Q10 hrdo:pat_id_10381 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 219150 neant Q87.8 35664 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch etiological subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficiencia de P5CS Deficit di P5CS Deficit di delta-1-pirrolina 5-carbossilasi sintetasi Delta-1-Pyrrolin-5-Carboxylat-Synthetase-Mangel Delta-1-pyrroline 5-carboxylate synthetase deficiency Déficit de Delta-1-pirrolina 5-carboxilato sintetasa Déficit de P5CS Déficit en P5CS Déficit en delta-1-pyrroline 5-carboxylate synthétase Neurocutaneous syndrome, Bicknell type Neurokutanes Syndrom Typ Bicknell P5CS deficiency P5CS-Mangel Sindrome neurocutanea, tipo Bicknell Syndrome neurocutané type Bicknell Síndrome neurocutáneo, tipo Bicknell ALDH18A1-related DeBarsy syndrome DeBarsy-Syndrom, ALDH18A1-abhängiges Deficiência de delta-1-pirrolina-5-carboxilato sintetase Sindrome di DeBarsy legata ad ALDH18A1 Syndrome de DeBarsy associé à ALDH18A1 Síndrome de DeBarsy asociado a ALDH18A1 hrdo:pat_id_10382 35686 312491004 C0729842 disease Chorioidopathie, geografische helikoide peripapilläre Choroïdopathie géographique hélicoïdale péripapillaire Coroidopatia geografica elicoidale peripapillare Coroidopatia helicoidal peripapilar geográfica Coroidopatía geográfica helicoidal peripapilar Geographic helicoid peripapillary choroidopathy Chorioditis, serpiginöse Choroïdite serpigineuse Coroidite em serpentina Coroidite serpiginosa Coroiditis serpiginosa Serpiginous choroiditis hrdo:pat_id_10383 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável D031249 10060801 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=erdheim+chester+dis*%5Bti%5D+OR+erdheim+chester+disease%5Bmh%5D+OR+(non+langerhans+cell+histiocytosis+(1991%5BPDAT%5D+%3A+2002%5BPDAT%5D)) D76.3 35687 C0878675 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Doença de Erdheim-Chester Enfermedad de Erdheim-Chester Erdheim-Chester disease Erdheim-Chester-Krankheit Maladie d'Erdheim-Chester Malattia di Erdheim-Chester hrdo:pat_id_10384 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 127300 neant Q74.0 35688 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Enfermedad de Madelung Malattia di Madelung Deformidad de Madelung Deformidade de Madelung Deformità di Madelung Déformation de Madelung Madelung deformity Madelung-Deformität hrdo:pat_id_10385 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 611637 10036704 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Primary+lateral+sclerosis%5Btw%5D G12.2 35689 81211007 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Adult-onset PLS Adult-onset primary lateral sclerosis ELP ELP de aparición adulta Esclerosis lateral primaria de aparición adulta PLS PLS PLS PLS PLS a esordio nell'età adulta PLS de l'adulte SLP SLP de l'adulte Sclerosi laterale primitiva a esordio nell'età adulta Sclérose latérale primitive de l'adulte Esclerose lateral primária Esclerosis lateral primaria Lateralsklerose, primäre Primary lateral sclerosis Sclerosi laterale primitiva Sclérose latérale primitive hrdo:pat_id_10386 35696 group of phenomes COXPD COXPD COXPD COXPD COXPD Combined OXPHOS defect Combined OXPHOS deficiency Combined oxidative phosphorylation defect Defectos OXPHOS combinados Defectos combinados de la fosforilación oxidativa Deficiencia OXPHOS combinada Deficit combinato di OXPHOS Difetto combinato di OXPHOS Déficit OXPHOS combinado Déficit OXPHOS combiné Déficit combiné de la phosphorylation oxydative OXPHOS-Defekt, kombinierter Deficiências múltiplas na cadeia respiratória Difetto combinato della fosforilazione ossidativa Enfermedad mitocondrial por un defecto en la síntesis de proteínas mitocondriales Kombinierte Störung der oxidativen Phosphorylierung Maladie mitochondriale par défaut de synthèse des protéines mitochondriales Mitochondrial disorder due to a defect in mitochondrial protein synthesis hrdo:pat_id_10388 Variabel Variabile Variable Variable Variable Variable Variável 10059396 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Mitochondrial+DNA+depletion%5Btw%5D+OR+%28Mitochondrial+Diseases%5Bmh%3Anoexp%5D+DNA%2C+Mitochondrial/ge%29 E88.8 35698 237995002 C0342782 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Déplétion de l'ADNmt Sindrome da deplezioni del mtDNA Síndrome de depleción del mtDNA mtDNA depletion syndrome Mitochondrial DNA depletion syndrome Mitochondriales DNA-Depletionssyndrom Sindrome da deplezioni del DNA mitocondriale Syndrome de déplétion de l'ADN mitochondrial Síndrome de depleción del ADN mitocondrial Síndrome deplecção do DNA mitocondrial hrdo:pat_id_1039 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 126800 604356 D004370 10013799 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(duane+retraction+syndrome%5Bmh%5D+OR+duane+syndrome%5Btw%5D+OR+Duane's+syndrome%5Btw%5D)+NOT+Okihiro+Syndrome%5Btw%5D H50.8 233 60318001 C0013261 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 DRS DRS DRS DRS DRS Duane retraction syndrome Duane-Retraktionssyndrom Sindrome della retrazione di Duane Syndrome de rétraction de Duane Síndrome de retracción de Duane Duane syndrome Duane-Syndrom Sindrome di Duane Syndrome de Duane Síndrome de Duane Síndrome de Duane hrdo:pat_id_10391 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 605911 neant E71.3 35701 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Déficit en HMG-CoA synthétase HMG-CoA synthase deficiency 3-Hydroxy-3-Methylglutaryl-CoA-Synthase-Mangel 3-hydroxy 3-methylglutaryl-CoA synthase deficiency Deficit di 3-idrossi-3-metilglutaril-CoA (HMG-CoA) sintetasi Deficiência de 3-hidroxi-3-metilglutaril-CoA sintetase Déficit de 3-hidroxi 3-metilglutaril-CoA (HMG) sintetasa Déficit en 3-hydroxy 3-méthylglutaryl-CoA synthétase hrdo:pat_id_10393 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 612718 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Arginine+glycine+amidinotransferase+AND+deficiency E72.8 35704 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Arginin:Glycin-Amidinotransferase-Mangel Arginine:glycine amidinotransferase deficiency Deficit di arginina:glicina amidinotransferasi Deficiência de arginina:glicina amidinotransferase Déficit de arginina:glicina amidinotransferasa Déficit en arginine:glycine amidinotransférase hrdo:pat_id_10394 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Phosphoglycerate+dehydrogenase+OR+phosphoserine+phosphatase+OR+Phosphoserine+aminotransferase)+deficiency E72.8 35705 group of phenomes <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficiencia de serina Deficit di serina Deficiência de serina Déficit en sérine Serin-Mangel Serina, deficiência de Serine deficiency Doença neurometabólica por deficiência de serina Maladie neurométabolique par déficit en sérine Malattia neurometabolica da deficit di serina Neurometabolic disorder due to serine deficiency Neurometabolische Erkrankung durch Serin-Mangel Trastorno neurometabólico por deficiencia de serina hrdo:pat_id_10395 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 231690 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=glutaryl+CoA+oxidase+deficiency E72.3 35706 238070003 C0342873 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Acidemia glutárica tipo 3 Aciduria glutarica, tipo 3 Acidurie glutarique type 3 Acidúria glutárica tipo 3 Deficit di glutaril-CoA ossidasi Déficit en glutaryl-CoA oxydase Glutarazidurie Typ 3 Glutaric aciduria type 3 Glutaryl-CoA oxidase deficiency Acidemia glutarica, tipo 3 Aciduria glutárica tipo 3 Acidémie glutarique type 3 Deficiência de glutaril-CoA oxidase Glutaric acidemia type 3 Glutaryl-CoA-Oxidase-Mangel hrdo:pat_id_10397 608643 neant G24.8 35708 124600004 C1291564 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 AADC deficiency AADC-Mangel Deficiencia de AADC Deficiencia de L-aminoácido aromático decarboxilasa Deficit di AADC Déficit de AADC Déficit en AADC Aromatic L-amino acid decarboxylase deficiency Aromatische-L-Aminosäuredecarboxylase-Mangel Deficit di decarbossilasi degli L-aminoacidi aromatici Deficiência de L-aminoácidos aromáticos descarboxilase Déficit de L-aminoácido aromático decarboxilasa Déficit en décarboxylase des acides aminés aromatiques hrdo:pat_id_10398 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 606824 10066388 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Glucose-galactose+malabsorption%5Btitle/abstract%5D E74.3 35710 190749000 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Déficit en SGLT1 SGLT1 deficiency Glucose-galactose malabsorption Glukose-Galaktose-Malabsorption Malabsorción de glucosa-galactosa Malabsorption du glucose-galactose Malassorbimento di glucosio-galattosio Má absorção de glucose-galactose hrdo:pat_id_10399 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 120430 10027974 neant Q14.2 35737 C0549307 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Coloboma ectásico Colobome ectasique Ectasic coloboma Kolobom der Papille, kongenitales Morning glory-Anomalie Syndrome de l'anthémis du matin Syndrome de la fleur de liseron Síndrome de la flor de enredadera Volubilis syndrome Morning glory syndrome Morning-Glory-Syndrom Sindrome ''Morning glory'' Syndrome morning glory Síndrome "Morning glory" Síndrome Morning glory hrdo:pat_id_104 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 208900 208910 D001260 10003594 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=ataxia+telangiectasia%5Bmajr%5D G11.3 100 68504005 C0004135 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Louis-Bar syndrome Louis-Bar, síndrome de Louis-Bar-Syndrom Sindrome di Louis-Bar Syndrome de Louis-Bar Síndrome de Louis-Bar Atassia - telangectasia Ataxia - telangiectasia Ataxia - telangiectasia Ataxia-Teleangiectasia Ataxia-telangiectasia Ataxie-télangiectasie hrdo:pat_id_10400 Variabel Variabile Variable Variable Variable Variable Variável 603737 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28ovar*%5Bti%5D+germ+cell*%5Bti%5D+%28tumor+OR+tumors%29+malignant%29+OR+%28Germ+Cell+and+Embryonal+Neoplasms%5Bmh%3Anoexp%5D+Ovarian+Neoplasms%29 C56 35807 group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cancer germinal de l'ovaire Cancro ovarico a cellule germinali Cáncer de células germinales de ovario Keimzelltumor, maligner ovarieller Ovarian germ cell cancer Maligne Keimzelltumoren des Ovars Ovarian germ cell malignant tumor Tumeur maligne ovarienne germinale Tumor maligno das células da linha germinativa do ovário Tumor maligno de células germinales de ovario Tumore ovarico maligno a cellule germinali hrdo:pat_id_10401 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Ovar*%5Bti%5D+%28sex+cord%5Bti%5D+OR+Stromal%5Bti%5D%29%29+OR+%28Sex+Cord+Gonadal+Stromal+Tumors%5Bmh%5D+Ovarian+Neoplasms%5Bmh%5D%29 C56 35808 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cancer des cordons sexuels et du stroma Cancro ovarico dei cordoni sessuali e dello stroma Cáncer de ovario estromal de cordones sexuales Ovarian cancer of sex cord-stromal origin Maligne Keimstrang-Stroma-Tumoren des Ovars Ovarian malignant tumor of sex cord-stromal origin Tumeur maligne des cordons sexuels et du stroma Tumor do ovário de origem no estroma ou cordão sexual Tumor ovárico maligno de origen en los cordones sexuales del estroma Tumore ovarico maligno dei cordoni sessuali e dello stroma hrdo:pat_id_10402 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 261100 neant D51.1 35858 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anemia megaloblastica familiare Anémie mégaloblastique congénitale Cobalamin-Malabsorption, selektive mit Proteinurie Doença de Imerslund-Gräsbeck Familial megaloblastic anemia Imerslund-Gräsbeck, doença de Malabsorption sélective de cobalamine - protéinurie Malassorbimento selettivo di cobalamina associato a proteinuria Malattia di Gräsbeck-Imerslund Megaloblasten-Anämie, familiäre Selective cobalamin malabsorption with proteinuria Anemia megaloblástica familiar Enfermedad de Grõsbeck-Imerslund Gräsbeck-Imerslund disease Imerslund-Gräsbeck-Syndrom Maladie de Gräsbeck-Imerslund Sindrome di Imerslund-Gräsbeck hrdo:pat_id_10403 606762 neant E72.8 35878 disease HI/HA syndrome HI/HA-Syndrom Sindrome HI/HA Syndrome HI/HA Síndrome HI/HA Hyperinsulinism-hyperammonemia syndrome Hyperinsulinismus-Hyperammonämie-Syndrom Sindrome da iperinsulinismo-iperammoniemia Syndrome d'hyperinsulinisme et hyperammoniémie Síndrome de hiperinsulinismo - hiperamonémia Síndrome de hiperinsulinismo-hiperamonemia hrdo:pat_id_10404 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant T40.0 T40.1 T40.2 35889 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Acute opioid poisoning Envenenamiento agudo por opioides Intossicazione acuta da oppioidi Intoxication aiguë par les opioïdes Intoxicação aguda por ópio Opiat-Vergiftung, akute hrdo:pat_id_10405 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 227300 227310 613625 neant D68.8 35909 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Deficit combinato di FV e FVIII Deficit multiplo familiare di un fattore della coagulazione Déficit combinado de FV y FVIII Déficit combiné en FV et FVIII Déficit familial multiple en facteurs de coagulation Déficit múltiple familiar de los factores de la coagulación F5F8D F5F8D FV and FVIII combined deficiency Familial multiple coagulation factor deficiency Combined deficiency of factor V and factor VIII Deficit combinato del fattore V e del fattore VIII Deficiência combinada de fator V e fator VIII Déficit combinado de los factores V y VIII Déficit combiné en facteurs V et VIII Faktor V und Faktor VIII, kombinierter Mangel hrdo:pat_id_10406 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Polymicrogyria%5Bti%5D+OR+%28Polymicrogyria+%28brain/ab%5Bmajr%5D+OR+Brain+Diseases%5Bmajr%5D%29%29 Q04.3 35981 4945003 C0266464 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Dominant lié à l'X Dominante legata all'X Dominante ligado al X Esporádica Esporádico Ligado ao X dominante Sporadic Sporadic Sporadica Sporadique Sporadisch X-chromosomal-dominant X-linked dominant X-linked dominant group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Polimicrogiria Polimicrogiria Polimicrogiria Polymicrogyria Polymicrogyrie Polymikrogyrie hrdo:pat_id_10407 Variabel Variabile Variable Variable Variable Variable Variável 152800 D008201 10025213 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Intestinal+lymphangiectasia%5Bti%5D+OR+Lymphangiectasis,+Intestinal%5Bmajr%5D I89.0 36204 197260007 C0024215 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Intestinal lymphangiectasia Linfangectasia intestinale Linfangiectasia intestinal Linfangiectasia intestinal Lymphangiectasie intestinale Lymphangiektasie, intestinale hrdo:pat_id_10408 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D046729 10048928 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Collagenous+colitis K52.8 36205 19311003 C0238067 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown clinical subtype 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Colite colagenosa Colite collagenosa Colite collagène Colitis colagenosa Collagenous colitis Kollagen-Kolitis hrdo:pat_id_10409 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Bacteria+(toxic+shock%5Bti%5D+OR+septic+shock%5Bti%5D+OR+Shock,+Septic%5Bmajr%5D)+(humans+OR+patients) A48.3 36234 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Bacterial TSS Bakterielles TSS SCT bactérien SST bacteriano Síndrome de shock tóxico bacteriano TSS bacteriano TSS batterica Bacterial toxic-shock syndrome Sindrome dello shock tossico batterico Syndrome du choc toxique bactérien Síndrome de choque tóxico bacteriano Síndrome do choque tóxico bacteriano Toxisches Schock-Syndrom, bakterielles hrdo:pat_id_10410 neant A49.0 36235 disease Escarlatina Escarlatina estafilocócica Febbre scarlatta da stafilococco Scarlatine staphylococcique Scharlach, Staphylokokken-induziert Staphylococcal scarlet fever hrdo:pat_id_10411 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável neant L00 36236 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Dermatitis exfoliativa neonatorum Ritter von Rittershain Enfermedad exfoliativa generalizada Generalized exfoliative disease Maladie exfoliante généralisée Malattia esfoliativa generalizzata SSSS SSSS SSSS SSSS Staphylogene toxische epidermale Nekrolyse Syndrome de la peau ébouillantée Doença exfoliativa generalizada Sindrome cutanea combustiforme da Stafilococco Staphylococcal scalded skin syndrome Staphylogenes Lyell-Syndrom Syndrome d'exfoliation généralisée Síndrome de la piel escaldada por estafilococos hrdo:pat_id_10412 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 10006563 neant L01.0 36237 399183005 C0021100 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Bullous impetigo Impetigine bollosa Impetigo bolhoso Impetigo, bullöse Impétigo bulleux Impétigo bulloso hrdo:pat_id_10413 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant J15.2 36238 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Necrotizante estafilocócica, neumonía Pneumonia necrotizante por estafilococos Pneumonie nécrosante staphylococcique Pneumonie, nekrotisierende, Staphylokokken-induzierte Polmonite necrotizzante da stafilococco Staphylococcal necrotizing pneumonia hrdo:pat_id_10414 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 211480 I73.1 36258 disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Thromboangiitis obliterans Thromboangiitis obliterans Thromboangéite oblitérante Tromboangeíte obliterante Tromboangioite obliterante Buerger's disease Buerger-Krankheit Doença de Buerger Enfermedad de Buerger Maladie de Buerger Malattia di Buerger hrdo:pat_id_10415 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Linitis+plastica%5Bmh%5D+Stomach+Neoplasms%5Bmajr%5D+OR+%28%28gastric%5Bti%5D+OR+stomach%5Bti%5D%29+Linitis%5Bti%5D%29 C16.2 36273 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Borrmann gastric cancer type 4 Cancer de l'estomac type Borrmann 4 Cancro dello stomaco, tipo Bormann 4 Cancro gástrico tipo Borrmann 4 Linhite plástica do estômago Linite plastica dello stomaco Linite plastique de l'estomac Linitis plastica des Magens Linitis plastica of the stomach Magenkrebs, Typ Borrmann 4 Gastric linitis plastica Linhite plástica Linite gastrique Linite plastica Linitis plastica Linitis plástica gástrica hrdo:pat_id_10416 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter D000856 10002649 36297 56882008 C0003125 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Anoressia nervosa genetica Anorexia nerviosa, tipos genéticos Anorexia nervosa Anorexia nervosa, genetisch bedingte Typen Anorexia nervosa, tipos genéticos Anorexie mentale hrdo:pat_id_10417 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis 609821 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Thrombocytopathy+OR+Blood+Coagulation+Disorders)+P2+Purinoceptor+OR+(P2+Purinoceptor%2Fdf+(P2Y12+OR+%22P2Y+12%22)) D69.8 36355 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ADP platelet receptor P2Y12 deficiency ADP-Plättchen-Rezeptor-P2Y12, Mangel des Deficit del recettore piastrinico di ADP, P2Y12 Deficiência de recetor plaquetário do ADP (P2Y12) Déficit en récepteur plaquettaire de l'ADP P2Y12 Receptor plaquetário do ADP (P2Y12), deficiência de Deficit di P2Y12 Deficiência de P2Y12 Déficit de receptor de plaquetas ADP P2Y12 por fármacos antitrombóticos Déficit en P2Y12 P2Y12 deficiency P2Y12-Rezeptor-Mangel hrdo:pat_id_10418 612337 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=((deletion%5Bti%5D+1q*%5Bti%5D)+OR+monosomy+1q*%5Bti%5D)+(terminal+OR+distal+OR+qter)+OR+(1q-+syndrome%5Bti%5D)+OR+(1q%5Bti%5D+deletion+syndrome%5Bti%5D) Q93.5 36367 malformation syndrome Delezione 1q distale Delezione 1q telomerica Distal deletion 1q Délétion distale 1q Délétion télomérique 1q Monosomia 1qter Monosomie 1qter Monosomy 1qter Monosomía 1qter Telomeric deletion 1q Distal monosomy 1q Monosomia 1q distale Monosomie 1qter Monosomie distale 1q Monosomía distal 1q Monossomia 1qter hrdo:pat_id_1042 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 277300 608681 609813 613686 C535781 C537565 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Spondylocostal%5Bti%5D+OR+spondylothoracic%5Bti%5D+OR+costovertebral%5Bti%5D%29+AND+dysostosis Q76.8 2311 61367005 C0265343 C2931020 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Jarcho-Levin syndrome Sindrome di Jarcho-Levin Syndrome de Jarcho-Levin Síndrome de Jarcho-Levin Autosomal recessive spondylocostal dysostosis Disostose espondilo-costal autossómica recessiva Disostosi spondilocostale autosomica recessiva Disostosis espondilocostal autosómica recesiva Dysostose spondylo-costale autosomique récessive Dysostose, spondylokostale, autosomal-rezessive hrdo:pat_id_10420 36382 disease Accident vasculaire cérébral familial Accidente vascular cerebral familiar Acidente vascular cerebral, familiar Familial cerebral vascular accident Gefäßruptur, familiäre zerebrale Infarto cerebrovascolare familiare hrdo:pat_id_10421 607595 C531642 neant I67.3 36383 C2930808 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Anomalie des petits vaisseaux du cerveau avec hémorragie Brain small vessel disease with hemorrhage Enfermedad de los vasos sanguíneos pequeños del cerebro con hemorragia Gewundene Netzhautarteriolen - infantile Hemiparese - Leukoenzephalopathie, autosomal-dominant Malattia dei piccoli vasi cerebrali con emorragie Retinal arteriolar tortuosity - infantile hemiparesis - autosomal dominant leukoencephalopathy Tortuosidad de las arterias retinianas - hemiparálisis infantil - leucoencefalopatía autosómica dominante Tortuosità delle arteriole retiniche - emiparesi infantile - leucoencefalopatia autosomica dominante Tortuosité des artérioles rétiniennes - hémiparésie infantile - leukoencéphalopathie, autosomique dominante Zerebrale Mikroangiopathie mit Hämorrhagie Familial vascular leukoencephalopathy Leucoencefalopatia vascolare familiare Leucoencefalopatia vascular, familiar Leucoencefalopatía vascular familiar Leucoencéphalopathie vasculaire familiale Leukenzepahlopathie, familiäre vaskuläre hrdo:pat_id_10423 Variabel Variabile Variable Variable Variable Variable Variável 162400 613640 613708 614116 neant G60.8 36386 397734008 C0020071 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Doença de Morvan HSAN 1 HSAN 1 HSAN1 Morvan, doença de Morvan-Krankheit Hereditary sensory and autonomic neuropathy type 1 Neuropathie sensitive et autonomique type 1 Neuropathie, autonome hereditäre sensorische, Typ 1 Neuropatia autonoma e sensoriale ereditaria, tipo 1 Neuropatia autonómica e sensitiva hereditária tipo 1 Neuropatía sensorial y autónoma hereditaria tipo 1 hrdo:pat_id_10424 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 604233 604403 609800 611277 612279 613060 613828 613863 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=epilepsy+febrile+seizures+plus G40.3 36387 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown GEFS+ GEFS+ GEFS+ GEFS+ GEFS+ Epilepsia generalizada com convulsões febris, plus Epilepsia generalizada con convulsiones febriles plus (GEFS+) Epilepsie généralisée avec convulsions fébriles plus Epilessia generalizzata con convulsioni febbrili Generalisierte Epilepsie mit Fieberkrämpfen plus (GEFS+) Generalized epilepsy with febrile seizures-plus context hrdo:pat_id_10425 Variabel Variabile Variable Variable Variable Variable Variável 36388 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown DCP Degenerazione cerebellare paraneoplastica Dégénerescence cérébelleuse paranéoplasique PCD PCD PCD PCD Paraneoplastic cerebellar degeneration Síndrome cerebeloso paraneoplásico Paraneoplastic neurologic syndrome Paraneoplastische Neurologische Syndrome Sindrome neurologica paraneoplastica Syndrome neurologique paranéoplasique Síndrome neurológico paraneoplásico Síndromes neurológicos paraneoplásicos hrdo:pat_id_10426 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 103200 D000274 10001294 neant E88.2 36397 71404003 C0001529 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Adiposalgia Adipose tissue rheumatism Adiposis dolorosa Dercum's disease Dercum, doença de Dercum-Krankheit Doença de Dercum Enfermedad de Dercum Lipomatose symétrique douloureuse Lipomatosis dolorosa Maladie de Dercum Malattia di Dercum Neurolipomatose Neurolipomatose Neurolipomatose Neurolipomatose douloureuse de Dercum Neurolipomatosi Neurolipomatosis Neurolipomatosis Adipose dolorosa Adipose douloureuse Adiposi dolorosa Adiposis dolorosa Adiposis dolorosa Lipomatosis dolorosa hrdo:pat_id_10428 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(mcDuffie%5Btw%5D+OR+macduffie%5Btw%5D)+OR+(urticarial+vasculitis%5Btw%5D+hypocomplementemic) M31.8 36412 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Angéite leucocytoclasique hypocomplémentémique Hypocomplementemic leucocytoclastic vasculitis Mac Duffie hypocomplementemic urticarial vasculitis Mac Duffie's syndrome Mac Duffie, síndrome de Mac-Duffie-Syndrom McDuffie hypocomplementemic urticarial vasculitis McDuffie syndrome Sindrome di Mac Duffie Sindrome di McDuffie Syndrome de MacDuffie Syndrome de McDuffie Síndrome de Mac Duffie Síndrome de Mac Duffie Síndrome de McDuffie Vascularite urticarienne hypocomplémentémique de Mac Duffie Vascularite urticarienne hypocomplémentémique de McDuffie Vasculite orticarioide ipocomplementemica di Mac Duffie Vasculite orticarioide ipocomplementemica di McDuffie Vasculitis urticarial hipocomplementémica de Mac Duffie Vasculitis urticarial hipocomplementémica de McDuffie Hypocomplementemic urticarial vasculitis Vascularite urticarienne hypocomplémentémique Vasculite leucocitoclastica ipocomplementemica Vasculite leucocitoclástica hipocomplementémica Vasculitis leucocitoclástica hipocomplementémica Vaskulitis, hypokomplementämische leukozytoklastische hrdo:pat_id_10429 36414 Brain stem tumor Hirnstammtumor Tumeur du tronc cérébral Tumor del tronco encefálico Tumor do tronco cerebral Tumore del tronco cerebrale hrdo:pat_id_1043 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 127300 C537119 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Dyschondrosteosis%5Btw%5D+OR+Leri-Weill%5Btw%5D+OR+Langer%5Btw%5D%29+AND+%28%22osteochondrodysplasias%22%5BMH%5D+OR+Dyschondrosteosis%5Btw%5D%29 Q77.8 240 17818006 C0265309 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Leri-Weill-Syndrom Léri-Weill syndrome Sindrome di Léri-Weill Syndrome de Léri-Weill Síndrome de Leri-Weill Discondrosteose de Léri-Weill Discondrosteosi Discondrosteosis de Leri-Weill Dyschondrostéose de Léri-Weill Léri-Weill dyschondrosteosis Léri-Weill-Dyschondrosteose hrdo:pat_id_10430 Variabel Variabile Variable Variable Variable Variable Variável 608579 D013262 10042033 neant L51.1 36426 73442001 C0038325 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Dermato-stomatite type Stevens-Johnson Dermatostomatite tipo Stevens-Johnson Dermatostomatite, tipo Stevens-Johnson Dermatostomatitis Typ Stevens-Johnson Dermatostomatitis, Stevens Johnson type Sindrome di Stevens-Johnson Stevens-Johnson syndrome Stevens-Johnson-Syndrom Syndrome de Stevens-Johnson Síndrome de Stevens-Johnson Síndrome de Stevens-Johnson hrdo:pat_id_10437 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 159900 C536096 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Myoclonus%5Ball%5D+OR+myoclonic%5Bti%5D%29+AND+%28dystonia%5Bti%5D+OR+dystonia%5Bmh%5D+OR+dystonic+disorders%5Bmh%5D%29 G24.1 G25.3 36899 439732004 C1834570 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Alcohol-responsive dystonia DYT11 DYT11 DYT11 DYT11 DYT11 Distonia sensibile all'alcol Distonía sensible al alcohol Dystonie sensible à l'alcool Dystonie, Alkohol-responsive Mioclonia - distonia, síndrome Myoclonus-dystonia syndrome Myoklonus-Dystonie-Syndrom Sindrome distonia-mioclono Síndrome mioclonia - distonia Síndrome mioclonus - distonía Distonia mioclonica 11 Distonia mioclónica Distonía mioclónica 11 Dystonie myoclonique 11 Dystonie, myoklone Myoclonic dystonia 11 hrdo:pat_id_10438 36913 75316000 C0271865 disease Autoimmune hypoparathyroidism Hipoparatiroidismo autoimune Hipoparatiroidismo, autoinmune Hypoparathyreoidismus, autoimmuner Typ Hypoparathyroïdie auto-immune Ipoparatiroidismo autoimmune hrdo:pat_id_1044 Normal Normal Normal Normal Normal Normal Normale Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 154230 233420 300018 400044 612965 613080 613762 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28gonadal+dysgenesis%5Bmh%5D+OR+Gonadal+dysgenesis%5Bti%5D%29+AND+XY%5Btw%5D+OR+Gonadal+Dysgenesis%2C+46%2CXY Q97.3 242 95218005 C2936694 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown 46,XY CGD 46,XY CGD 46,XY pure gonadal dysgenesis CGD 46,XY CGD 46,XY CGD 46,XY Disgenesia gonadal pura 46,XY Disgenesia gonadica pura 46,XY Dysgénésie gonadique pure 46,XY PGD 46,XY Sindrome di Swyer Swyer syndrome Syndrome de Swyer Síndrome de Swyer 46,XY complete gonadal dysgenesis 46,XY-Gonadendysgenesie, vollständige Disgenesia gonadal completa 46,XY Disgenesia gonadal completa 46,XY Disgenesia gonadica completa 46,XY Dysgénésie gonadique complète 46,XY hrdo:pat_id_10440 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 304790 neant E31.0 37042 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Autoimmune enteropathy type 1 Enteropathie, autoimmune, Typ 1 Enteropatia autoimmune, tipo 1 Enteropatía autoinmune tipo 1 Entéropathie autoimmune de type 1 IPEX IPEX IPEX IPEX IPEX IPEX Disfunción inmune - poliendocrinopatía - enteropatía ligada a X Disfunção imune - poliendocrinopatia - enteropatia, ligado ao X Dérèglement immunitaire - polyendocrinopathie - entéropathie, lié à l'X Immun-Dysregulation - Polyendokrinopathie - Enteropathie, X-chromosomal Immunodisregolazione - poliendocrinopatia - enteropatia legata all'X X-linked immune dysregulation - polyendocrinopathy - enteropathy hrdo:pat_id_10441 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável D018856 10011796 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=cystitis%2C+interstitial%5Bmh%5D+OR+Interstitial+cystitis%5Bti%5D N30.1 37202 C0282488 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 'Interstitielle Zystitis/''Bladder pain''-Syndrom' Bladder pain syndrome Bladder pain-Syndrom CI Painful bladder syndrome SVD Sindrome della vescica dolorosa Syndrome de la vessie douloureuse Síndrome de la vejiga dolorosa Síndrome doloroso de la vejiga Cistite intersticial Cistite interstiziale Cistitis intersticial Cystite interstitielle Interstitial cystitis Interstitielle Cystitis hrdo:pat_id_10442 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 170390 neant G72.3 37553 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Andersen cardiodysrhythmic periodic paralysis Andersen kardiodysrhythmische Periodische Paralyse Andersen syndrome Andersen, síndrome de Andersen-Syndrom Andersen-Tawil syndrome Andersen-Tawil-Syndrom LQT7 LQT7 LQT7 LQT7 LQT7 Long-QT-Syndrom Typ 7 Paralisi periodica cardiodisritmica di Andersen Parálisis periódica cardiodisrítmica de Andersen QT long syndrome type 7 Sindrome del QT lungo, tipo 7 Sindrome di Andersen Sindrome di Andersen-Tawil Syndrome d'Andersen Syndrome d'Andersen-Tawil Syndrome du QT long type 7 Síndrome de Andersen Síndrome de Andersen Síndrome de Andersen-Tawil Síndrome de QT largo tipo 7 Cardiodysrhythmic potassium-sensitive periodic paralysis Paralisi periodica cardiodisritmica sensibile al potassio Paralisia periódica sensível ao potássio, tipo cardiodisritmico Paralysie périodique potassium-sensible - dysrythmie cardiaque Parálisis periódica cardiodisrítmica sensible al potasio Periodische Paralyse, kardiodysrhythmische Kalium-sensitive hrdo:pat_id_10443 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=acquired+(kinky+OR+kinking)+hair L67.8 37559 disease Acquired kinky hair syndrome Kinky-hair-Syndrom, erworbenes Sindrome ''kinky hair'', forma acquisita Syndrome 'Kinky hair' acquis Síndrome de pelo erizado adquirido Síndrome do cabelo impenteável adquirido hrdo:pat_id_10444 160120 neant G11.8 37612 421182009 C1719788 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Atassia episodica con miochimia Ataxia episódica com mioquimia Ataxie épisodique avec myokymie Ataxie, episodische, mit Myokymie Episodic ataxia with myokymia Atassia episodica, tipo 1 Ataxia episódica tipo 1 Ataxia episódica tipo 1 Ataxie épisodique type 1 Ataxie, episodische, Typ 1 Episodic ataxia type 1 hrdo:pat_id_10445 37629 disease Neonatal neutropenia Neutropenia neonatal Neutropenia neonatal Neutropenia neonatale Neutropenie, neonatale Neutropénie néonatale hrdo:pat_id_10447 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D019873 10062908 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22schnitzler+syndrome%22%5BMH%5D+OR+Schnitzler%27s+syndrome%5Btw%5D+OR+Schnitzler+syndrome%5BTW%5D L50.8 37748 402415001 C0524988 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Chronic urticaria with gammapathy Chronic urticaria with macroglobulinemia Nesselsucht, chronische mit Makroglobulinämie Orticaria cronica con macroglobulinemia Urticaire chronique avec gammapathie Urticaire chronique avec macroglobulinémie Urticaria crónica con gammapatía Urticaria crónica con macroglobulinemia Utricária crónica com macroglobulinemia Schnitzler syndrome Schnitzler-Syndrom Sindrome di Schnitzler Syndrome de Schnitzler Síndrome de Schnitzler Síndrome de Schnitzler hrdo:pat_id_1045 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 263800 D053579 10062906 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Gitelman+syndrome%5Btw%5D+OR+Gitelman%27s+syndrome%5Btw%5D N15.8 358 3188003 C0268450 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Hipokalemia - hipomagnesemia tubular renal primaria con hipocalciuria Hipomagnesemia - hipocaliémia renotubulares primárias com hipocalciúria Ipomagnesemia ipokaliemica tubulare renale primitiva con ipocalciuria Primary renal tubular hypokalemic hypomagnesemia with hypocalciuria Gitelman syndrome Gitelman-Syndrom Sindrome di Gitelman Syndrome de Gitelman Síndrome de Gitelman Síndrome de Gitelman hrdo:pat_id_10451 222748 neant E79.8 38874 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficit di diidropirimidinasi Deficiência de diidropirimidinase Dihydropyrimidinase deficiency Dihydropyrimidinase-Mangel Diidropirimidinase, deficiência de Déficit de dihidropirimidinasa Déficit en dihydropyrimidinase Dihidropirimidinuria Dihydropyrimidinuria Dihydropyrimidinurie Dihydropyrimidinurie Diidropirimidinuria Diidropirimidinúria hrdo:pat_id_10452 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 603554 10069097 neant D81.8 39041 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Combined immunodeficiency with hypereosinophilia Déficit immunitaire combiné avec hyperéosinophilie Immundefekt, kombinierter schwerer - Hypereosinophilie Immunodeficienza combinata con ipereosinofilia Imunodeficiência combinada grave com hipereosinofilia Inmunodeficiencia combinada con hipereosinofilia Omenn syndrome Omenn-Syndrom Sindrome di Omenn Syndrome d'Omenn Síndrome de Omenn Síndrome de Omenn hrdo:pat_id_10453 155700 155720 606660 606661 C536494 10061252 neant D03.8 39044 255012009 255021005 C0220633 C0346373 disease Choroidal melanoma Iris melanoma Irismelanom Melanom, chorideales Melanoma de coroides Melanoma de iris Melanoma dell'iride Melanoma della coroide Mélanome choroïdien Mélanome de l'iris Aderhautmelanom Melanoma da coróide Melanoma dell'uvea Melanoma uveal Mélanome uvéal Uveal melanoma hrdo:pat_id_1046 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 219000 D058497 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Fraser+syndrome%5Btw%5D+OR+Fraser%27s+syndrome%5Btw%5D Q87.0 2052 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Criptoftalmia - sindactilia, síndrome de Cryptophtalmie - syndactylie Cryptophthalmos-syndactyly syndrome Kryptophthalmie-Syndaktylie-Syndrom Sindrome criptoftalmia-sindattilia Syndrome cryptophtalmie-syndactylie Síndrome criptoftalmia-sindactilia Síndrome de criptoftalmia - sindactilia Fraser syndrome Fraser-Syndrom Sindrome di Fraser Syndrome de Fraser Síndrome de Fraser Síndrome de Fraser hrdo:pat_id_10460 Variabel Variabile Variable Variable Variable Variable Variável 614395 10018651 neant T86.0 39812 234646005 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 GVH GVH GVHD Doença enxerto versus hospedeiro Graft versus host disease Graft versus host-Krankheit Maladie du greffon contre l'hôte Malattia da rigetto del trapianto (Graft versus host) Síndrome del injerto contra huesped hrdo:pat_id_10461 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 607507 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22arthritis%2C+psoriatic%22%5BMH%5D+OR+%28Psoriatic+arthritis%5BTw%5D+NOT+medline%5Bsb%5D%29 L40.5+ 40050 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Arthritis psoriatica Adult psoriatic arthritis Arthrite psoriasique de l'adulte Artrite psoriasica Artrite psoriática Artritis psoriásica Psoriasis-Arthritis hrdo:pat_id_10462 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q86.8 40366 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Acitretina fetal, síndrome de Exposition anténatale à l'acitrétine Fetal acitretin syndrome Fetales Acitretin-Syndrom Sindrome fetale di acitretina Síndrome de acitretina fetal Síndrome de acitretina fetal Acitretin embryofetopathy Acitretin-Embryofetopathie Embriofetopatia da acitretina Embriofetopatia por acitretina Embriofetopatía por acitretina Embryofoetopathie à l'acitrétine hrdo:pat_id_10463 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta C538011 10057429 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Eales%5Btw%5D+AND+%28%22disease%22%5BMeSH+Terms%5D+OR+disease%5BText+Word%5D%29 H35.0 40923 54122009 C0271073 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Doença de Eales Eales disease Eales-Krankheit Enfermedad de Eales Maladie d'Eales Malattia di Eales hrdo:pat_id_10464 210370 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Bietti's%5Btw%5D+OR+bietti%5Btw%5D H15.5 41751 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease BCD BCD BCD BCD BCD Bietti crystalline corneoretinal dystrophy Bietti crystalline retinopathy Bietti`s kristalline Retinopathie Distrofia corneo-retiniana cristalina de Bietti Distrofia corneo-retinica del cristallino di Bietti Dystrophie cornéo-rétinienne cristalline de Bietti Dystrophie cristalline de Bietti Retinopatia del cristallino di Bietti Retinopatía cristalina de Bietti Rétinopathie crystalline de Bietti Bietti crystalline dystrophy Bietti`s kristalline Dystrophie Distrofia cristalina de Bietti Distrofia cristalina de Bietti Distrofia del cristallino di Bietti Maladie de Bietti hrdo:pat_id_10465 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D005356 10048439 neant M79.7 41842 C0016053 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Fibromialgia Fibromialgia Fibromialgia Fibromyalgia Fibromyalgie Fibromyalgie hrdo:pat_id_10466 Variabel Variabile Variable Variable Variable Variable Variável 242600 C536285 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=iminoglycinuria+OR+iminoaciduria E72.0 42062 84121007 C0268654 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Iminoglicinuria Iminoglicinuria Iminoglicinúria Iminoglycinuria Iminoglycinurie Iminoglycinurie hrdo:pat_id_10468 68329 group of phenomes Anomalie maxillo-faciale rare Rare maxillofacial anomaly Anomalia maxillofacciale rara Anomalia maxilofacial rara Maladie rare en chirurgie maxillo-faciale Maxillofaziale Anomalien, seltene Maxilofacial, anomalía, rara Rare maxillo-facial surgical disease hrdo:pat_id_10473 68334 group of phenomes Coagulopathie rare par déficit constitutionnel en facteurs de coagulation Coagulopatia rara da difetto costituzionale dei fattori della coagulazione Coagulopatía rara debida a una deficiencia constitucional de factores de coagulación Rare bleeding disorder due to a constitutional coagulation factors defect Rare coagulopathy due to a constitutional coagulation factors defect Disturbo emorragico raro da difetto costituzionale dei fattori della coagulazione Hemofilia e outra deficiência de coagulação Hämophilie und Defekte anderer Gerinnungsfaktoren Maladie hémorragique rare par déficit constitutionnel en facteurs de coagulation Rare hemorrhagic disorder due to a constitutional coagulation factors defect Trastorno hemorrágico raro debido a una deficiencia constitucional de factores de coagulación hrdo:pat_id_10474 D002869 68335 C0008625 group of phenomes Anomalia cromosomica Anomalia cromossómica Anomalie chromosomique Anomalía cromosómica Chromosomal anomaly Chromosomenstörung hrdo:pat_id_10475 68336 group of phenomes Rare genetic tumor Tumeur génétique rare Tumor genético Tumor raro de origen genético Tumor, seltener, genetisch bedingter Tumore genetico hrdo:pat_id_10480 68341 group of phenomes Anomalias congénitas múltiplas / síndrome dismórfico Anomalies congénitales multiples/syndrome dysmorphique Dismórfico, síndrome Multiple congenital anomalies/dysmorphic syndrome Multiple kongenitale Anomalien/Dysmorphie-Syndrome Sindrome dismorfica hrdo:pat_id_10485 68346 group of phenomes Genodermatose, seltene Genodermatosi rara Genodermatosis rara Génodermatose rare Rare genodermatosis Doença dermatológica genética Enfermedad rara de la piel genética Hautkrankheit, seltene, genetisch bedingte Maladie dermatologique rare d'origine génétique Malattia cutanea genetica rara Rare genetic skin disease hrdo:pat_id_10486 68347 group of phenomes Tumeur des tissus lymphoïde et hématopoïétique Tumor des hämatopoetischen und lymphoiden Gewebes Tumor hematológico Tumor of hematopoietic and lymphoid tissues Tumore dei tessuti linfoidi ed ematopoietici Tumores de tejidos hematopoyéticos y linfoides hrdo:pat_id_10487 10053233 68348 238922006 C0406629 group of phenomes Cuero cabelludo, enfermedad del Doença do couro cabeludo Kopfhautkrankheit Maladie du cuir chevelu Malattia del cuoio capelluto Scalp disease hrdo:pat_id_10493 D012893 10040984 68354 39898005 C0851578 group of phenomes Disturbi del sonno Distúrbios do sono Maladie du sommeil Schlafstörung Sleep disorder Trastorno del sueño hrdo:pat_id_10495 10024381 neant E75.2 68356 192781003 C0023520 group of phenomes Leucodistrofia Leucodistrofia Leucodistrofia Leucodystrophie Leukodystrophie Leukodystrophy hrdo:pat_id_105 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 175100 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=adenomatous+polyposis+coli+(humans+OR+patient)+OR+Turcot+syndrome%5Btw%5D D12.6 733 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Colorectal adenomatous polyposis FAP FAP FAP FAP FAP Familial polyposis coli Gardner, síndrome de PAF PAF PAF Polipose adenomatosa colorrectal dominante Polipose adenomatosa colorretal dominante Poliposi adenomatosa colorettale Poliposi familiare del colon Poliposis adenomatosa coli Poliposis adenomatosa colorrectal Polypen, adenomatöse kolorektale Polypose adénomateuse colorectale Polypose rectocolique familiale Síndrome de Gardner Familial adenomatous polyposis Polipose adenomatosa familiar, autossómica dominante Poliposi adenomatosa familiare Poliposis adenomatosa familiar Polypose adénomateuse familiale Polyposis, adenomatöse familiäre hrdo:pat_id_10500 68361 group of phenomes Rare deafness Schwerhörigkeit, seltene Sordera, rara Sordità rara Surdez (forma rara) Surdité rare hrdo:pat_id_10501 68362 group of phenomes Doença vascular rara Enfermedad vascular, rara Gefäßkrankheit, seltene Maladie vasculaire rare Malattia vascolare rara Rare vascular disease hrdo:pat_id_10502 68363 group of phenomes Rare dystonic disorder Distónico, enfermedad Doença distónica rara Dystonie Dystonie rare Malattia distonica Rare dystonia hrdo:pat_id_10503 D006453 10060892 neant D56 D57 D58 68364 80141007 C0019045 group of phenomes Emoglobinopatia Hemoglobinopathy Hemoglobinopatia Hemoglobinopatía Hämoglobinopathie Hémoglobinopathie hrdo:pat_id_10506 68366 group of phenomes Doença lisossomal Enfermedad lisosomal Lysosomal disease Lysosomale Speicherkrankheit Maladie lysosomale Malattia lisosomiale hrdo:pat_id_10507 neant 68367 group of phenomes Enfermedad metabólica Maladie métabolique Malattia metabolica Metabolic disease Stoffwechselkrankheit Difetti congeniti del metabolismo Doença metabólica rara Erreurs innées du métabolisme Errores congénitos del metabolismo Inborn errors of metabolism Stoffwechselkrankheit, angeborene hrdo:pat_id_10513 D018901 68373 238059005 C0282528 group of phenomes Doença peroxissomal Enfermedad peroxisomal Maladie péroxysomale Malattia perossisomiale Peroxisomal disease Peroxysomale Krankheit hrdo:pat_id_10518 68378 group of phenomes Anomalia congenita degli arti Anomalia dos membros, congénita Anomalie congénitale des membres Anomalía de las extremidades, congénita Congenital limb malformation Extremitätenanomalie, kongenitale hrdo:pat_id_1052 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 119540 D002972 10009269 neant Q35 2014 253986002 87979003 C0008925 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Fente palatine Cleft palate Fenda palatina Fente vélo-palatine Gaumenspalte Paladar hendido Palatoschisi hrdo:pat_id_10520 D028361 68380 240096000 C0751651 group of phenomes Doença mitocondrial Maladie mitochondriale Malattia mitocondriale Mitochondrial disease Mitochondriopathie Mitocondrial, enfermedad hrdo:pat_id_10521 D009468 10029323 68381 255522009 257277002 C0027868 group of phenomes Doença neuromuscular Enfermedad neuromuscular Maladie neuromusculaire Malattia neuromuscolare Neuromuscular disease Neuromuskuläre Krankheit hrdo:pat_id_10523 neant D61.0 68383 group of phenomes Aplasia costituzionale del midollo Aplasia medular constitucional rara Aplasia medular, constitucional Aplasie médullaire constitutionnelle rare Aplasie, medulläre konstitutionelle, seltene Rare constitutional medullar aplasia hrdo:pat_id_10525 68385 group of phenomes Doença neurometabólica Enfermedad neurometabólica Maladie neurométabolique Malattia neurometabolica Neurometabolic disease Neurometabolische Krankheit hrdo:pat_id_10528 D017253 10029268 neant Q85.0 68388 19133005 81669005 C0162678 group of phenomes Neurofibromatose Neurofibromatose Neurofibromatose Neurofibromatosi Neurofibromatosis Neurofibromatosis hrdo:pat_id_1053 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 300321 300406 300422 300581 300659 300676 305450 C537923 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=FG+syndrome%5Btw%5D Q87.8 323 49984004 C0220769 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Keller syndrome Keller-Syndrom Optiz-Kaveggia, síndrome de Sindrome di Keller Syndrome de Keller Síndrome de Keller Síndrome de Optiz-Kaveggia FG syndrome FG-Syndrom Sindrome FG Syndrome FG Síndrome FG Síndrome FG hrdo:pat_id_10542 neant G20 68402 group of phenomes Parkinson-Syndrom, seltenes Rare parkinsonian disorder Sindrome parkinsoniana rara Syndrome parkinsonien rare Síndrome parkinsoniano raro Síndrome parkinsónico, raro hrdo:pat_id_10552 68411 group of phenomes Knochentumor, seltener Rare bone tumor Tumeur osseuse rare Tumor óseo, raro Tumor ósseo, raro Tumore osseo raro hrdo:pat_id_10556 68415 group of phenomes Doença do metabolismo fosfo-cálcico Enfermedades paratiroideas raras y trastornos del metabolismo fosfocálcico Maladie parathyroïdienne rare et anomalie du métabolisme phosphocalcique Malattia del metabolismo fosfocalcico Nebenschilddrüse und Calcium/Phosphor-Stoffwechselkrankheit, seltene Rare parathyroid diseases and phosphocalcic metabolism disorder hrdo:pat_id_10557 68416 group of phenomes Doença infecciosa, rara Enfermedad infecciosa, rara Infektionskrankheit, seltene Maladie infectieuse rare Malattia infettiva rara Rare infectious disease hrdo:pat_id_1056 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance D007713 10048230 neant Q98.8 10 403760006 C2936741 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown 48,XXYY 48,XXYY 48,XXYY 48,XXYY 48,XXYY 48,XXYY syndrome 48,XXYY-Syndrom Sindrome 48,XXYY Syndrome 48,XXYY Síndrome 48 XXYY Síndrome 48,XXYY hrdo:pat_id_10560 neant 68419 group of phenomes Angiom oder vaskuläre Fehlbildung Angioma e malformação vascular Angioma o difetto vascolare Angioma o malformación vascular Anomalie vasculaire ou angiome Vascular anomaly or angioma hrdo:pat_id_10573 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Marshall%5Btw%5D+OR+Marshall%27s%5Btw%5D%29+periodic+fever+OR+PFAPA E85.0 42642 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Febre periódica - estomatite aftosa - faringite - adenopatia, síndrome Fièvre périodique - stomatite aphteuse - pharyngite - adénopathie PFAPA syndrome PFAPA, síndrome Periodic fever, aphtous stomatitis, pharyngitis, adenopathy syndrome Sindrome febbre periodica-stomatite aftosa-faringite-adenopatia (PFAPA) Syndrom des periodischen Fiebers, aphthöser Stomatitis, Pharyngitis und Adenitis (PFAPA) Syndrome PFAPA Síndrome PFAPA Síndrome febre periódica - estomatite aftosa - faringite - adenopatia Fièvre périodique type Marshall Marshall's syndrome with periodic fever Marshall-Syndrom mit periodischem Fieber Sindrome di Marshall con febbre periodica Síndrome de Marshall - febre periódica Síndrome de Marshall con fiebre periódica hrdo:pat_id_10575 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 103500 C536919 42665 C0391816 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hipopigmentação - surdez, síndrome Hypopigmentation - surdité Hypopigmentation-deafness syndrome Sindrome ipopigmentazione-sordità Síndrome de hipopigmentación-sordera Síndrome hipopigmentação - surdez Sindrome di Tietz Syndrome de Tietz Síndrome de Tietz Síndrome de Tietz Tietz syndrome Tietz-Syndrom hrdo:pat_id_10576 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter C537592 10052210 neant D70 42738 89655007 C1853118 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive group of phenomes 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Neutropenia congenita grave Neutropenia congénita Neutropenia congénita grave Neutropenie, kongenitale schwere Neutropénie congénitale sévère Severe congenital neutropenia hrdo:pat_id_10577 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 606519 neant Q87.8 42775 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Pascual-Castroviejo syndrome type 2 Pascual-Castroviejo-Syndrom Typ 2 Sindrome di Pascual-Castroviejo, tipo 2 Syndrome de Pascual-Castroviejo type 2 Síndrome de Pascual-Castroviejo tipo 2 PHACE syndrome PHACE-Syndrom Sindrome PHACE Syndrome PHACE Síndrome PHACE Síndrome PHACE hrdo:pat_id_10579 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 255125 neant 43115 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Aconitase deficiency Deficiencia de aconitasa Déficit de aconitasa Déficit en aconitase ISCU myopathy Iron-sulphur cluster deficiency myopathy Miopatia con intolleranza all'esercizio, tipo svedese Miopatia ereditaria con acidosi lattica Miopatía ISCU Miopatía con intolerancia al ejercicio, tipo sueco Miopatía por deficiencia del grupo hierro-azufre Miopatía por déficit del grupo hierro-azufre Myopathie ISCU Myopathie avec intolérance à l'effort, de type suédois Myopathie bei Belastungsintoleranz, Sschwedischer Typ Myopathie mit Laktatazidose, hereditäre Form Myopathy with exercise intolerance, Swedish type Aconitase-Mangel Deficit di aconitasi Deficiência de Aconitase Hereditary myopathy with lactic acidosis due to ISCU deficiency Miopatía hereditaria con acidosis láctica por déficit de ISCU Myopathie héréditaire avec acidose lactique par déficit en ISCU hrdo:pat_id_1058 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 107100 207500 301800 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(rectum%2Fab%5Bmajr%5D+OR+anus,+imperforate%5Bmajr%5D)+(child+OR+humans+OR+infant) Q42.0 Q42.1 Q42.2 Q42.3 557 group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Fehlbildung, anorektale isolierte Isolated anorectal malformation Malformación anorectal aislada Malformation anorectale isolée Malformazione anorettale isolata Malformação anoretal hrdo:pat_id_10580 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Variabel Variabile Variable Variable Variable Variable Variável D020230 10040108 43116 371089000 C0699828 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Serotonergic syndrome Serotonin storm Serotonin toxicity Serotonin toxidrome Serotonin syndrome Serotonin-Syndrom Sindrome serotoninergica Syndrome sérotoninergique Síndrome serotoninérgico Síndrome serotoninérgico hrdo:pat_id_10581 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=(intoxication%5Bti%5D+OR+poisoning%5Bti%5D)+(tricyclic+Antidepressive%5Btw%5D+OR+tricyclic+antidepressant*%5Btw%5D)+OR+Antidepressive+Agents,+Tricyclic%2Fpo T43.0 43117 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch particular clinical situation in a disease or syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Acute tricyclic antidepressant poisoning Envenenamiento agudo por antidepresivos tricíclicos Intossicazione acuta da antidepressivi triciclici Intoxication aiguë par les antidépresseurs tricycliques Intoxicação aguda por antidepressivos tricíclicos Trizyklische Antidepressiva, akute Vergiftung hrdo:pat_id_10582 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 43119 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch particular clinical situation in a disease or syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Acute poisoning by drugs with membrane-stabilizing effect Envenenamiento agudo por fármacos con efecto estabilizador de membrana Intossicazione acuta da farmaci con effetto stabilizzante sulla membrana Intoxication aiguë par les médicaments avec effet stabilisant de membrane Intoxicação aguda por medicamentos com efeito estabilizador de membranas Membranstabilisierende Medikamente, akute Vergiftung hrdo:pat_id_10583 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D015624 10067685 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Lambert+Eaton+myasthenic+syndrome G73.1 43393 56989000 C0022972 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Lambert-Eaton-Syndrom Lambert-Eaton myasthenic syndrome Lambert-Eaton-Myasthenisches Syndrom Sindrome miastenica di Lambert-Eaton Syndrome myasthénique de Lambert-Eaton Síndrome miasténico de Lambert-Eaton Síndrome miasténico de Lambert-Eaton hrdo:pat_id_10584 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 606764 D046152 10051066 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Gastrointestinal+stromal+tumors%5Bmh%5D+OR+Gastrointestinal+stromal+tumor*%5Bti%5D C26.9 44890 128756002 420120006 C0238198 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 GIST GIST GIST GIST GIST Gastrointestinal stromal tumor Stroma-Tumor, gastrointestinaler Tumeur stromale gastro-intestinale Tumor estromal gastrointestinal esporádico familiar Tumor gastrointestinal de origem no estroma (GIST) Tumore stromale gastrointestinale familiare o sporadico hrdo:pat_id_10586 135700 600638 602078 609384 609428 609612 neant H49.8 45358 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease FEOM FEOM FEOM Congenital fibrosis of extraocular muscles Extraokuläre Muskelfibrose, kongenitale Fibrose congénita dos músculos extra-oculares (FEOM) Fibrose congénitale des muscles oculo-moteurs Fibrosi congenita dei muscoli extraoculari Fibrosis congénita de músculos extraoculares (FEOM) hrdo:pat_id_10587 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 156000 D008575 10027183 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Meniere%27s+disease%5Bmh%5D+OR+Meniere+disease%5Bti%5D+OR+Meniere%27s+disease%5Bti%5D H81.0 45360 13445001 C0025281 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Doença de Meniere Enfermedad de Meniere Maladie de Menière Malattia di Ménière Meniere disease Ménière-Krankheit hrdo:pat_id_10589 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 254130 613318 613319 C537480 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Miyoshi%5Btw%5D+AND+%28%28muscular+diseases%5BTIAB%5D+NOT+Medline%5BSB%5D%29+OR+%22muscular+diseases%22%5BMH%5D+OR+myopathy%5BTW%5D%29 G71.0 45448 C1850808 disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Miopatia de Miyoshi Miopatia di Miyoshi Miopatía de Miyoshi Miyoshi myopathy Miyoshi-Myopathie Myopathie distale type Miyoshi hrdo:pat_id_1059 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 302060 D056889 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Barth+syndrome%5Btw%5D+OR+Barth%27s+syndrome%5Btw%5D+OR+tafazzin*%5Btw%5D+OR+taz+gene%5Btw%5D E71.1 111 297231002 C0574083 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 3-Methylglutaconicazidurie Typ 2 3-methylglutaconic aciduria type 2 AGM2 Aciduria 3-metilglutaconica, tipo 2 Aciduria 3-metilglutacónica tipo 2 Acidurie 3-méthylglutaconique type 2 Acidúria 3-metilglutacónica tipo 2 BTHS BTHS BTHS BTHS BTHS BTHS Cardioskeletal myopathy with neutropenia and abnormal mitochondria Cardioskeletal myopathy-neutropenia Kardioskelettale Myopathie - Neutropenie Kardioskelettale Myopathie - Neutropenie - Mitochondriopathie Kardioskelettale Myopathie - Neutropenie, X-chromosomal MGA2 MGA2 MGA2 MGA2 MGA2 Miopatia cardio-esquelética - neutropenia Miopatia cardioscheletrica - neutropenia Miopatia cardioscheletrica con neutropenia e difetti mitocondriali Miopatia cardioscheletrica legata all'X e neutropenia Miopatía cardioesquelética con neutropenia y mitocondria anormal Miopatía cardioesquelética ligada al X y neutropenia Myopathie cardioquelettique et neutropénie liée à l'X Myopathie cardiosquelettique - neutropénie Neutropenia-miopatía cardioesquelética X-linked cardioskeletal myopathy and neutropenia Barth syndrome Barth-Syndrom Sindrome di Barth Syndrome de Barth Síndrome de Barth Síndrome de Barth hrdo:pat_id_10590 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant I48 45452 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Aleteo atrial idiopático neonatal Flutter atriale idiopatico neonatale Flutter auriculaire idiopathique du nouveau-né Flutter auricular neonatal idiopático Idiopathic neonatal atrial flutter Vorhofflattern, idiopathisches neonatales hrdo:pat_id_10591 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant I47.2 45453 233908008 C0340487 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Incessant infant ventricular tachycardia Tachicardia ventricolare infantile continua Tachycardie ventriculaire incessante du nouveau-né Taquicardia ventricular incesante infantil Taquicardia ventricular infantil, persistente Ventrikeltachykardie, anhaltende infantile hrdo:pat_id_10592 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 607330 C537880 neant Q87.8 46059 C1846421 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficit di sterolo C5-desaturasi Déficit de esterol-C5-desaturasa Déficit en stérol C5-désaturase Esterol C-5 dessaturase Sterol C5-Desaturase-Mangel Sterol C5-desaturase deficiency Lathosterolose Lathosterolosis Lathostérolose Latosterolose Latosterolosi Latosterolosis hrdo:pat_id_10593 46135 disease Linfoma cerebral primario Linfoma cerebrale primitivo Linfoma del SNC primario Lymphome primitif cérébral Lyphome primitif du SNC PCNSL PCNSL PCNSL PCNSL Primary CNS lymphoma Primary brain lymphoma Linfoma cerebral primário Linfoma primario del sistema nervioso central Linfoma primitivo del sistema nervoso centrale Lymphome primitif du système nerveux central Primary central nervous system lymphoma ZNS-Lymphom, primäres hrdo:pat_id_10594 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 167400 46348 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dolore rettale familiare Douleur rectale familiale Familial rectal pain PEPD (paroxysmal extreme pain disorder) Dor retal, familiar Paroxysmal extreme pain disorder Schmerzen, extreme parsoxysmale, Krankheit der Sindrome da dolore parossistico estremo Syndrome de douleur extrême paroxystique Trastorno del dolor extremo paroxístico hrdo:pat_id_10595 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 137800 613028 neant 46484 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Oligodendroglial tumor Oligodendrogliom Oligodendroglioma Tumeur oligodendrogliale Tumor oligodendroglial Tumore oligodendrogliale hrdo:pat_id_10596 Variabel Variabile Variable Variable Variable Variable Variável neant 46485 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Pemfigo superficiale Pemphigus superficial Pemphigus superficiel Pénfigo superficial Pênfigo superficial Superficial pemphigus hrdo:pat_id_10597 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 164185 10057052 neant L12.1 46486 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cicatricial pemphigoid Mucosal pemphigoid Mucosynechial pemphigoid Pemfigo cicatriziale Pemfigoide delle mucose Pemfigoide mucosinechiale Pemphigoid, vernarbendes Pemphigoïde cicatricielle Pemphigoïde des muqueuses Pemphigoïde mucosynechiante Penfigoide cicatricial Penfigoide mucosinequial Penfigoide mucoso Mucous membrane pemphigoid Pemfigo delle membrane mucose Pemphigoid, membranöses muköses Pemphigoïde des membranes muqueuses Penfigoide de la membrana mucosa Pênfigo cicatricial hrdo:pat_id_10598 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 10056508 L12.3 46487 2772003 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Epidermolysis bullosa acquisita Epidermolysis bullosa acquisita Epidermólisis bullosa adquirida Acquired epidermolysis bullosa Epidermolisi bollosa acquisita Epidermolyse bulleuse acquise Epidermolysis bullosa, erworbene Epidermólise bolhosa adquirida Epidermólisis ampollosa adquirida hrdo:pat_id_10599 10024515 neant L10.8 46488 95330001 C0406650 disease Dermatose por acumulação linear de IgA Dermatose à IgA linéaire Dermatosi lineare da IgA Dermatosis IgA linear IgA-Dermatose, lineare Linear IgA dermatosis hrdo:pat_id_106 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 105400 205250 300857 606640 608030 608031 608627 611895 612069 612577 613435 613954 614696 614808 D000690 10002026 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Amyotrophic+lateral+sclerosis%5BTI%5D+OR+%22Amyotrophic+lateral+sclerosis%22%5BMH%5D G12.2 803 86044005 C0002736 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 ALS Charcot disease Charcot, doença de Charcot-Krankheit Doença de Charcot Doença de Lou-Gehrig ELA Enfermedad de Charcot Enfermedad de Lou-Gehrig Lou-Gehrig disease Lou-Gehrig, doença de Lou-Gehrig-Krankheit Maladie de Charcot Maladie de Lou Gehrig Malattia di Charcot Malattia di Lou-Gehrig SLA Amyotrophe Lateralsklerose Amyotrophic lateral sclerosis Esclerose lateral amiotrófica (ELA) Esclerosis lateral amiotrófica Sclerosi laterale amiotrofica Sclérose latérale amyotrophique hrdo:pat_id_10600 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant M32.8 46489 239889005 C0409977 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 BSLE BSLE BSLE BSLE LESB Bullous systemic lupus erythematosus Lupus eritematoso bolhoso sistémico Lupus eritematoso sistemico bolloso Lupus eritematoso sistémico bulloso Lupus erythematodes, bullöser systemischer Lupus érythémateux vésiculo-bulleux hrdo:pat_id_10601 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 141749 142335 142470 305435 613566 neant D56.4 46532 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown HPFH - beta talassemia HPFH - beta-Thalassämie HPFH - beta-talasemia HPFH - beta-thalassemia HPFH - bêta-thalassémie Hereditary persistence of fetal hemoglobin - beta-thalassemia Hereditäre Persistenz des fetalen Hämoglobins - beta-Thalassämie Persistance familiale de l'hémoglobine fœtale - bêta-thalassémie Persistencia hereditaria de hemoglobina fetal - beta-talasemia Persistenza ereditaria di emoglobina fetale - beta talassemia Persistência hereditária de hemoglobina fetal hrdo:pat_id_10602 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 169100 C538076 neant Q87.8 46627 C1868570 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Canal arterial persistente - dismorfia facial - anomalias dos quintos dedos Conducto arterioso permeable con dismorfia facial y anomalías del meñique Dotto arterioso pervio - dismorfismi facciali - anomalie del V dito Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits Persistance du canal artériel - dysmorphie faciale - anomalies du cinquième doigt Persistierender Ductus arteriosus mit Gesichtsdysmorphie und abnormalen fünften Finger Char syndrome Char, síndrome de Char-Syndrom Sindrome di Char Syndrome de Char Síndrome de Char hrdo:pat_id_10603 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 210720 neant Q87.1 46658 malformation syndrome NMOSR Baixa estatura primordial - microdontia - dentes opalescentes e sem raíz Bassa statura primitiva - microdonzia - denti opalescenti senza radice Estatura baja primordial, microdoncia, dientes opalescentes y sin raíces Nanisme primordial - microdontie - dents opalescentes et sans racine Primordial short stature - microdontia - opalescent and rootless teeth Primordialer Kleinwuchs - Mikrodontie - opaleszierende und wurzellose Zähne hrdo:pat_id_10604 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 108010 D002538 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Cerebral%5Bti%5D+OR+brain%5Bti%5D%29+arteriovenous+malformation*%5Bti%5D+OR+Intracranial+Arteriovenous+Malformations Q28.2 46724 C0007772 morphological anomaly 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Anastomosis arteriovenosa cerebral Cerebral arteriovenous fistula Cerebral arteriovenous shunt Fistule artério-veineuse cérébrale Intracranial arteriovenous malformation Malformation artério-veineuse intracranienne Shunt arterio-venoso cerebral Shunt arterovenoso cerebrale Shunt artério-veineux cérébral Shunt, arteriovenöser Cerebral arteriovenous malformation Fistel, arteriovenöse zerebrale Fistola arterovenosa cerebrale Fístula arterio-venosa cerebral Fístula arteriovenosa cerebral Malformation artério-veineuse cérébrale hrdo:pat_id_10607 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 605074 C538614 neant C64 47044 C2931899 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Cancer papillaire rénal familial Carcinoma de células renales, papilar, familiar Carcinoma papilar de células renais, familiar Carcinoma papillare ereditario delle cellule renali Familial papillary renal cell carcinoma Nierenzellkarzinom, papilläres, familiäres hrdo:pat_id_10608 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 120100 10064570 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Familial+Cold+Urticaria%5Btw%5D+OR+Familial+cold+autoinflammatory+syndrome%5Btw%5D L50.2 47045 238687000 C0343068 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Auto-inflamatório induzido pelo frio, familiar, síndrome Autoinflammatorisches Syndrom, kälteinduziertes, familiäre Form FCAS FCAS FCAS FCAS FCAS1 FCAS1 FCAS1 FCAS1 FCAS1 FCU FCU FCU FCU FCU Familial cold autoinflammatory syndrome SFAF Sindrome autoinfiammatoria familiare da freddo Syndrome familial auto-inflammatoire au froid Síndrome auto-inflamatório induzido pelo frio, familiar Síndrome autoinflamatorio familiar por frío Familial cold urticaria Kälte-Urtikaria, familiäre Orticaria familiare da freddo Urticaire familiale au froid Urticaria familiar por frío Urticária induzida pelo frio, familiar hrdo:pat_id_1061 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D001607 10004485 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Chronic%5Bti%5D+AND+berylliosis%5Bti%5D%29+OR+%28berylliosis%5Bmh%5D+AND+Chronic+Disease%5Bmh%5D%29 J63.2 133 18121009 C0221052 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Berylliosis Beryllium granulomatosis Beryllium pneumonosis Bérylliose Bérylliose pulmonaire chronique Chronic beryllium disease Chronic beryllium lung disease Beriliose crónica Beriliosis crónica Berilliosi cronica Berylliose, chronische Bérylliose chronique Chronic berylliosis hrdo:pat_id_10610 179830 604278 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=acidosis,+renal+tubular%5Bmh%5D+proximal%5Btw%5D+OR+proximal%5Bti%5D+renal+tubular+acidosis%5Btw%5D N25.8 47159 disease Acidose renal tubular proximal com alterações oculares Acidose renal tubular tipo 2 Acidose tubulaire rénale type 2 Acidosi tubulare renale prossimale pura, tipo familiare Acidosi tubulare renale, tipo 2 Acidosis tubular renal tipo 2 Azidose, renale tubuläre, proximale, reine, familiäre Form Renal tubular acidosis type 2 pRTA pRTA pRTA Acidose renal tubular proximal Acidose tubulaire rénale proximale Acidosi tubulare renale prossimale isolata Acidosis tubular renal proximal Azidose, renale tubuläre, proximale, isolierte Form Proximal renal tubular acidosis hrdo:pat_id_10611 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 134750 D005258 10016386 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%28Felty+syndrome%5BText+Word%5D+OR+%22felty%27s+syndrome%22%5BTIAB%5D%29+NOT+Medline%5BSB%5D%29+OR+%22felty%27s+syndrome%22%5BMeSH+Terms%5D M05.0 47612 57160007 C0015773 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Felty syndrome Felty-Syndrom Sindrome di Felty Syndrome de Felty Síndrome de Felty Síndrome de Felty hrdo:pat_id_10613 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D017511 10037635 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Pyoderma+Gangrenosum%5Bmh%5D+OR+Pyoderma+Gangrenosum+%5Bti%5D L88 48104 74578003 C0085652 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Pyodermite phagédénique Pioderma gangrenoso Piodermia gangrenosa Pyoderma gangraenosum Pyoderma gangrenosum Pyoderma gangrenosum Pyoderma gangrenosum hrdo:pat_id_10614 Variabel Variabile Variable Variable Variable Variable Variável 10065580 neant G61.8 48162 C1695985 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 MADSAM MADSAM MADSAM Multifocal acquired demyelinating sensory and motor neuropathy Multifokale erworbene demyelinisierende sensorische und motorische Neuropathie Neuropathie démyélinisante multifocale sensitivomotrice acquise Lewis-Sumner syndrome Lewis-Sumner-Syndrom Sindrome di Lewis-Sumner Syndrome de Lewis-Sumner Síndrome de Lewis-Summer Síndrome de Lewis-Sumner hrdo:pat_id_10615 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Nodular+regenerative+hyperplasia%5Bti%5D K76.8 48372 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Nodulazione non cirrotica Nodules d'origine non cirrhotique Non cirrhotic nodulation Transformation nodulaire du foie Hiperplasia regenerativa nodular Hiperplasia regenerativa nodular Hyperplasie nodulaire régénérative du foie Iperplasia rigenerativa nodulare del fegato Nodular regenerative hyperplasia of the liver Noduläre regenerative Hyperplasie (NRH) der Leber hrdo:pat_id_10616 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 10042342 L13.1 48377 25147002 C0600336 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dermatitis pustulosa subcórnea Doença de Sneddon-Wilkinson Enfermedad de Sneddon-Wilkinson Maladie de Sneddon-Wilkinson Malattia di Sneddon-Wilkinson Pustolosi subcornea Pustulosis subcornealis Pustulosis subcornealis Pustulosis subcórnea Sneddon-Wilkinson disease Sneddon-Wilkinson, doença de Sneddon-Wilkinson-Syndrom Subcorneal pustular dermatitis Dermatose pustular sub-corneana Dermatose pustuleuse sous-cornée Dermatose, pustuläre subkorneale Dermatosi pustolosa subcornea Dermatosis pustulosa subcórnea Subcorneal pustular dermatosis hrdo:pat_id_1062 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 211750 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=C+syndrome%5Bti%5D+OR+%28trigonocephaly%5Bti%5D+syndrome%29 Q87.8 1308 malformation syndrome 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Opitz trigonocephaly syndrome Opitz-Trigonozephalie-Syndrom Sindrome C - trigonocefalia Sindrome da trigonocefalia di Opitz Syndrome d'Opitz - trigonocéphalie Síndrome trigonocefalia de Opitz Trigonocefalia de Opitz, síndrome Trigonocephaly C syndrome Trigonocéphalie C d'Opitz Trigonozephalie-C-Syndrom Trigonozephalus-Syndrom Typ Opitz C syndrome C-Syndrom Sindrome C Syndrome C Síndrome C Síndrome C hrdo:pat_id_10625 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 604168 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Congenital+cataract*+OR+cataract/cn%29+%28facial+dysmorphism+OR+face/ab%29+neuropathy G60.8 Q13.8 48431 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CCFDN CCFDN CCFDN CCFDN CCFDN CCFDN-Syndrom Cataracte congénitale - dysmorphie faciale - neuropathie Cataratas congénitas - dismorfia facial - neuropatia Cataratas congénitas - dismorfia facial - neuropatía Cataratta congenita - dismorfismi facciali - neuropatia Congenital cataracts - facial dysmorphism - neuropathy Katarakte, kongenitale - faziale Dysmorphien - Neuropathie hrdo:pat_id_10626 Variabel Variabile Variable Variable Variable Variable Variável neant I77.6 48435 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Vascularite virale non liée aux virus HBV et HCV Vasculite virale non legata a HBV o HCV Vasculitis vírica no relacionada con HBV o HCV Viral vasculitis not related to HBV or HCV Post-infectious vasculitis Vasculite post-infettiva Vasculite post-inféctieuse Vasculite vírica não HBV não HCV Vasculitis postinfecciosa Vaskulitis, virale (nicht HBV und HCV) hrdo:pat_id_10627 Adulte jeune Adultos jóvenes Giovani adulti Jovem adulto Junge Erwachsene Young adult Young adult Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance D054082 10048911 neant Q04.3 48471 204036008 C0266463 group of phenomes Lisencefalia (termo genérico) Lisencefalia (término genérico) Lissencefalia Lissencephaly Lissencéphalie Lissenzephalie hrdo:pat_id_1063 Variabel Variabile Variable Variable Variable Variable Variável 161550 607107 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=nasopharyngeal%5Bti%5D+AND+%28neoplasm*%5Bti%5D+OR+cancer*%5Bti%5D%29+OR+nasopharyngeal+neoplasms%5Bmajr%5D C11 150 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cancro naso-faringeo Carcinoma nasofaringeo Carcinoma nasofaríngeo Carcinome nasopharyngé Karzinom, naso-pharyngeales Nasopharyngeal carcinoma hrdo:pat_id_10630 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 606232 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=22q13*%5Bti%5D+%28deletion+OR+monosomy+OR+heterozygosity+%29 Q93.5 48652 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 22q13 deletion Deletion 22q13 Délétion 22q13 Phelan-McDermid syndrome Phelan-McDermid-Syndrom Sindrome di Phelan-McDermid Syndrome de Phelan-McDermid Deleción 22q13 Deleção 22q13 Monosomia 22q13 Monosomie 22q13 Monosomie 22q13 Monosomy 22q13 hrdo:pat_id_10631 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D054685 10065857 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Primary+effusion+lymphoma C83.8 48686 128800006 C1292753 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Body cavity-based lymphoma Lymphome des cavités PEL PEL Linfoma de derrame primário (PEL) Linfoma primario de cavidades Linfoma primitivo effusivo (PEL) Lymphome primitif des séreuses Primary effusion lymphoma Primäres Effusionslymphom (PEL) hrdo:pat_id_10632 48736 disease Carcinoma embrionale intracranico Carcinoma embrionario, intracraneal Carcinoma embrionário intracraniano Carcinome embryonnaire intracrânien Embryonalkarzinom, intrakraniales Intracranial embryonal carcinoma hrdo:pat_id_10633 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 604290 neant G23.0 48818 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Ceruloplasmin-Mangel, hereditärer Deficit ereditario di ceruloplasmina Déficit hereditario de ceruloplasmina Déficit héréditaire en céruloplasmine Hereditary ceruloplasmin deficiency Aceruloplasminemia Aceruloplasminemia Aceruloplasminemia Aceruloplasminemia Aceruloplasminämie Acéruléoplasminémie hrdo:pat_id_10636 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 160750 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(focal+myositis%5Btw%5D+OR+(focal%5Bti%5D+myositis%5Bti%5D))+(humans+OR+patient) M60.8 48918 C0751357 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Focal nodular myositis Inflammatory pseudotumor of skeletal muscle Myosite focale nodulaire Pseudo-tumeur inflammatoire des muscles squelletiques Focal myositis Miosite focal Miosite focale Miositis focal Myosite focale Myositis, fokale hrdo:pat_id_10637 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 228800 D012185 10038979 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22retroperitoneal+fibrosis%22%5Bmajr%5D+OR+Retroperitoneal+fibrosis%5Bti%5D M72.8 49041 197808006 49120005 C0035357 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Doença de Ormond Enfermedad de Ormond Maladie d'Ormond Malattia di Ormond Ormond's disease Ormond, doença de Ormond-Syndrom Fibrose retroperitoneal Fibrose rétropéritonéale Fibrosi retroperitoneale Fibrosis retroperitoneal Retroperitoneal fibrosis Retroperitonealfibrose hrdo:pat_id_10638 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter D003811 10054013 neant K00.5 49042 196286005 C0011436 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown DGI DGI DGI DGI DGI no sindrómica DGI non sindromica DGI non syndromique DGI sans OI DGI senza OI DGI sin OI DGI without OI DI DI DI DI Denti opalescenti senza OI Denti opalescenti senza osteogenesi imperfetta Dentinogenesi imperfetta non sindromica Dentinogenesi imperfetta senza osteogenesi imperfetta Dentinogenesis imperfecta without osteogenesis imperfecta Dentinogénese imperfeita de Shields tipo II Dentinogénese imperfeita de Shields tipo III Dentinogénese imperfeita tipo 1 Dentinogénese imperfeita tipo 2 Dentinogénese imperfeita tipo 3 Dentinogénese imperfeita tipo Brandywine Dentinogénesis imperfecta no sindrómica Dentinogénesis imperfecta sin osteogénesis imperfecta Dentinogénèse imparfaite non syndromique Dentinogénèse imparfaite sans ostéogénèse imparfaite Dents opalescentes sans OI Dents opalescentes sans ostéogénèse imparfaite Dientes opalescentes sin OI Dientes opalescentes sin osteogénesis imperfecta Non-syndromic DGI Non-syndromic dentinogenesis imperfecta Opalescent teeth without OI Opalescent teeth without osteogenesis imperfecta Dentinogenesi imperfetta Dentinogenesis imperfecta Dentinogenesis imperfecta Dentinogénese imperfeita Dentinogénesis imperfecta Dentinogénèse imparfaite hrdo:pat_id_10639 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 216900 262300 304020 610024 613093 613856 10000454 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Achromatopsia+complete+%28congenital+OR+inherited%29 H53.5 49382 56852002 C0152200 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Monochromatisme à bâtonnets Monocromatismo de bastones Rod monochromatism Achromatopsia Achromatopsie Achromatopsie Acromatopsia Acromatopsia Acromatópsia total hrdo:pat_id_10640 D014884 D055665 10037556 neant D65 49566 13507004 C0043068 C0085650 disease Porpora fulminante Purpura fulminans Purpura fulminans Purpura fulminans Púrpura fulminante Púrpura fulminante hrdo:pat_id_10641 105250 613955 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Amyloid*%5Bti%5D+lichen*%5Bti%5D E85+ L99.0* 49804 disease Amyloid lichen Amylose cutanée papuleuse Lichen amyloidosus Lichen amyloidosus Lichen-amiloidosi Líquen - amiloidose Lichen amiloidosico Lichen amyloidosis Lichen amyloidosus Lichen amyloïde Liquen amiloide Líquen amiloidótico hrdo:pat_id_10643 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 249270 C536510 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Thiamine+responsive+megaloblastic+anemia D53.1 49827 237617006 C0342287 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anemia megaloblastica sensibile alla tiamina con diabete mellito e sordità neurosensoriale Anemia megaloblástica sensible a tiamina con diabetes mellitus y sordera neurosensorial Anémie mégaloblastique sensible à la thiamine Anémie mégaloblastique sensible à la thiamine - diabète sucré - surdité de perception Doença de Roger Roger, doença de Roger-Krankheit Rogers syndrome Rogers-Syndrom Sindrome di Rogers Syndrome de Rogers Síndrome de Rogers TRMA TRMA TRMA TRMA Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness Anémie mégaloblastique thiamine-dépendante Sindrome da anemia megaloblastica sensibile alla tiamina Síndrome anemia megaloblástica tiamina-sensível Síndrome de anemia megaloblástica sensible a tiamina Thiamin-responsive megaloblastäre Anämie mit Diabetes mellitus und sensorineuraler Schwerhörigkeit Thiamine-responsive megaloblastic anemia syndrome hrdo:pat_id_10645 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 156240 D008654 10027406 neant C45 50251 62064005 C0025500 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Mesotelioma Mesotelioma Mesotelioma Mesotheliom Mesothelioma Mésothéliome hrdo:pat_id_10648 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 609655 neant 50809 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome di Singh-Williams-McAlister Singh-Williams-McAlister syndrome Singh-Williams-McAlister, síndrome de Singh-Williams-McAlister-Syndrom Syndrom der Osteolyse von Sprungbein, Kniescheibe und Kahnbein Syndrome de Singh-Williams-McAlister Síndrome de Singh-Williams-McAlister Síndrome de Singh-Williams-McAlister Osteolisi talo-rotula-scafoide Ostéolyse talo-patello-scaphoïde Syndrom der Osteolyse von Talus, Patella und Skaphoid Síndrome de Osteólise escafoido-calâneo-rotuliana Síndrome de osteolisis del talon, rótula y escafoides Talo-patello-scaphoid osteolysis hrdo:pat_id_10649 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance Q04.3 50810 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Basel-Vanagaite-Sirota syndrome Basel-Vanagaite-Sirota, síndrome de Basel-Vanagaite-Sirota-Syndrom Sindrome di Basel-Vanagaite-Sirota Syndrome de Basel-Vanagaite-Sirota Síndrome de Basel-Vanagaite-Marcus-Klinger Síndrome de Basel-Vanagaite-Sirota Microlisencefalia - micromelia Microlissencefalia - micromelia Microlissencephaly - micromelia Microlissencéphalie - micromélie Mikrolissenzephalie - Mikromelie Síndrome de microlisencefalia - micromelia hrdo:pat_id_10650 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 608154 neant Q78.8 50811 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Rajab-Spranger syndrome Rajab-Spranger, síndrome de Rajab-Spranger-Syndrom Sindrome di Rajab-Spranger Syndrome de Rajab-Spranger Síndrome de Rajab-Spranger Lipodistrofia - atraso mental - surdez Lipodistrofia - déficit intelectual - sordera Lipodistrofia - ritardo mentale - sordità Lipodystrophie - déficit intellectuel - surdité Lipodystrophie - geistige Retardierung - Schwerhörigkeit Lipodystrophy - intellectual deficit - deafness hrdo:pat_id_10651 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 50812 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Herencia mitocondrial Hérédité mitochondriale Mitochondrial inheritance Mitochondrial inheritance Mitochondriale Vererbung Modo de hereditariedade mitocondrial Trasmissione mitocondriale disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Ahn-Lerman-Sagie syndrome Ahn-Lerman-Sagie, síndrome de Ahn-Lerman-Sagie-Syndrom Sindrome di Ahn-Lerman-Sagie Syndrome d'Ahn-Lerman-Sagie Síndrome de Ahn-Lerman-Sagie Síndrome de Ahn-Lerman-Sagie Sindrome Zellweger-simile senza anomalie perossisomiali Syndrome de Zellweger-like sans anomalies péroxysomales Síndrome Zellweger-like sem anomalias peroxissomais Síndrome de Zellweger-like sin anomalías peroxisómicas Zellweger-like syndrome without peroxisomal anomalies Zellweger-ähnliches Syndrom ohne Anomalien der Peroxysomen hrdo:pat_id_10653 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 607812 neant Q75.8 50814 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Boyadjiev-Jabs syndrome Boyadjiev-Jabs, síndrome de Boyadjiev-Jabs-Syndrom Sindrome di Boyadjiev-Jabs Syndrome de Boyadjiev-Jabs Síndrome de Boyadjiev-Jabs Síndrome de Boyadjiev-Jabs Craniolenticulosutural dysplasia Displasia craneolenticulosutural Displasia cranio-lenticulo-sutural Displasia cranio-lenticulo-suturale Dysplasie cranio-lenticulo-suturale Dysplasie, kranio-lentikulo-suturale hrdo:pat_id_10654 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 609166 neant Q87.8 50815 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Megarbane-Loiselet syndrome Megarbane-Loiselet, síndrome de Megarbane-Loiselet-Syndrom Sindrome di Megarbane-Loiselet Syndrome de Megarbané-Loiselet Síndrome de Megarbane-Loiselet síndrome de Megarbane-Loiselet Branchiogenic deafness syndrome Sindrome della sordità branchiogena Surdité branchiogénique Syndrom der branchiogenen Schwerhörigkeit Síndrome de sordera branquiogénica Síndrome surdez branquiogénica hrdo:pat_id_10655 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 607944 neant D81.8 50816 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Roifman-Melamed syndrome Roifman-Melamed, síndrome de Roifman-Melamed-Syndrom Sindrome di Roifman-Melamed Syndrome de Roifman-Melamed Síndrome de Roifman-Melamed Síndrome de Roifman-Melamed Displasia espondilo-metafisária com imunodeficiência combinada Displasia espondilometafisaria con inmunodeficiencia combinada Displasia spondilometafisaria con immunodeficienza combinata Dysplasie spondylo-métaphysaire - déficit immunitaire combiné Dysplasie, spondylometaphysäre - kombinierter Immundefekt Spondylometaphyseal dysplasia with combined immunodeficiency hrdo:pat_id_10656 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 50817 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome di Verloes-Deprez Syndrome de Verloes-Deprez Síndrome de Verloes-Deprez Síndrome de Verloes-Deprez Verloes-Deprez syndrome Verloes-Deprez, síndrome de Verloes-Deprez-Syndrom Anomalia de Duane - miopatia - escoliose Anomalia di Duane - miopatia - scoliosi Anomalie de Duane - myopathie - scoliose Anomalía de Duane - miopatía - escoliosis Duane anomaly - myopathy - scoliosis Duane-Anomalie - Myopathie - Skoliose hrdo:pat_id_10657 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 115430 D002349 10007697 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22carpal+tunnel+syndrome%22%5BMeSH+Terms%5D+OR+%28Carpal+tunnel+syndrome%5BText+Word%5D+NOT+medline%5Bsb%5D%29 G56.0 50838 246611002 57406009 C0007286 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Carpal tunnel syndrome Karpaltunnel-Syndrom Sindrome del tunnel carpale Syndrome du canal carpien Síndrome del túnel carpiano Síndrome do tunel cárpico hrdo:pat_id_10658 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D002372 10007729 A28.1 50839 79974007 C0007361 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Bartonellose durch Infektion mit Bartonella henselae Bartonellose à Bartonella henselae Bartonellosi da infezione da Bartonella henselae Bartonellosis due to Bartonella henselae infection Bartonelose por infecção por Bartonella henselae Bartonelose por infeção por Bartonella henselae Cat-scratch disease Doença da arranhadela do gato Enfermedad del arañazo de gato Katzenkratzkrankheit Maladie des griffes du chat Malattia del graffio di gatto hrdo:pat_id_10660 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=histiocytic+necrotizing+lymphaden*%5Bti%5D+OR+histiocytic+necrotizing+lymphadenitis%5Bmh%5D+OR+Kikuchi+Fujimoto+dis*%5Btw%5D+OR+Kikuchi+s+dis*%5Btw%5D I88.1 50918 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Doença de Kikuchi Histiocytic necrotizing lymphadenitis Kikuchi disease Kikuchi, doença de Kikuchi-Fujimoto-Lymphadenitis Kikuchi-Krankheit   Linfadenite istiocitica necrotizzante Linfadenite necrotizante histiocítica Lymphadenitis, histiozytäre nekrotisierende Lymphadénite histiocytaire nécrosante Maladie de Kikuchi Malattia di Kikuchi Doença de Kikuchi-Fujimoto Enfermedad de Kikuchi Kikuchi-Fujimoto disease Kikuchi-Fujimoto-Krankheit Maladie de Kikuchi-Fujimoto Malattia di Kikuchi-Fujimoto hrdo:pat_id_10661 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant D24 50920 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Mammapolyadenomatose Mammary polyadenomatosis Poliadenomatose mamária Poliadenomatosi mammaria Poliadenomatosis mamaria Polyadénomatose mammaire hrdo:pat_id_10662 148700 607654 612908 neant Q82.8 50942 disease Cheratoderma palmoplantare striata Cheratosi palmoplantare striata e areata Hyperkératose palmoplantaire striée ou en bandes Hyperkératose palmoplantaire type Wachters KPP striée ou en bandes Keratosis palmoplantaris striata et areata Keratosis palmoplantaris varians di Wachters Keratosis palmoplantaris varians of Wachters Kératodermie palmoplantaire type Wachters PPK striée ou en bandes Queratodermia palmoplantar estriada Queratosis palmoplantar estriada y areata Queratosis palmoplantar tipo Wachters Striate palmoplantar keratoderma Cheratosi palmoplantare striata Keratosis palmoplantaris striata Keratosis palmoplantaris striata Kératodermie palmoplantaire striée ou en bandes Queratose palmo-plantar estriada Queratosis palmoplantar estriada hrdo:pat_id_10663 148370 C536155 50943 239064000 C0406756 disease Eritema invernale cheratolitico Eritema queratolítico de invierno Eritema queratolítico do Inverno Erythème kératolytique hivernal Keratolytic winter erythema Keratolytisches Winter-Erythem hrdo:pat_id_10664 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 224750 neant Q82.8 50944 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cheratodermia palmoplantare - palpebre cistiche - ipodontia - ipotricosi Cheratosi palmoplantare - palpebre cistiche - ipodontia - ipotricosi Hiperqueratosis palmoplantar - párpados quísticos - hipodoncia - hipotricosis Hyperkératose palmoplantaire - kystes des paupières - hypodontie - hypotrichose Ipercheratosi palmoplantare - palpebre cistiche - ipodontia - ipotricosi Keratosis palmoplantaris - cystic eyelids - hypodontia - hypotrichosis Kératodermie palmoplantaire - kystes des paupières - hypodontie - hypotrichose Palmoplantar hyperkeratosis - cystic eyelids - hypodontia - hypotrichosis Palmoplantar keratoderma - cystic eyelids - hypodontia - hypotrichosis Palmoplantarkeratose mit zystischen Augenlidern, Hypodontie und Hypotrichosis Queratodermia palmoplantar - párpados quísticos - hipodoncia - hipotricosis Queratose palmo-plantar com quistos da pálpebra - hipodontia - hipotricose Queratosis palmoplantar - párpados quísticos - hipodoncia - hipotricosis SSPS SSPS SSPS SSPS SSSP Schopf-Schulz-Passarge syndrome Schöpf-Schulz-Passarge-Syndrom Sindrome di Schopf-Schulz-Passarge Syndrome de Schopf-Schulz-Passarge Síndrome de Schopf-Schulz-Passarge Síndrome de Schopf-Schulz-Passarge hrdo:pat_id_10665 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 215045 C537914 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28osteochondrodysplasias+OR+Chondrodysplasia%29+Blomstrand Q78.8 50945 C1859148 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 BLC BLC BLC BLC BLC Blomstrand's letale Chondrodysplasie Blomstrand's lethal chondrodysplasia Chondrodysplasie létale type Blomstrand Condrodisplasia letal tipo Blomstrand Condrodisplasia letale di Blomstrand Chondrodysplasia, Blomstrand type Chondrodysplasie Typ Blomstrand Chondrodysplasie type Blomstrand Condrodisplasia tipo Blomstrand Condrodisplasia tipo Blomstrand Condrodisplasia, tipo Blomstrand hrdo:pat_id_10668 606719 51013 disease Melanoma-Pankreaskrebs-Syndrom Melanoma-pancreatic cancer syndrome Mélanome - cancer pancréatique Sindrome melanoma-tumore pancreatico Síndrome melanoma - cancro pancreático Síndrome melanoma - tumor pancreático hrdo:pat_id_10670 Variabel Variabile Variable Variable Variable Variable Variável 609620 609621 609622 neant 51083 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown SQTS SQTS SQTS SQTS SQTS Familial short QT syndrome Short-QT-Syndrom, familiäres Sindrome familiare del QT corto Syndrome du QT court familial Síndrome QT curto familiar Síndrome de QT corto, familiar hrdo:pat_id_10671 613600 neant 51084 disease Torsade de pointes (Schraubentachykardie, Spitzenumkehrtachykardie Sindrome della torsione di punta con intervallo di accoppiamento breve Syndrome des torsades de pointes à couplage court Síndrome de Torsade-de-pointes com intervalo de acoplamento curto Tachykardie, ventrikuläre, Typ Torsade de pointes Torsade-de-pointes syndrome with short coupling interval Torsade-de-pointes, con intervalo de acoplamiento corto, síndrome de hrdo:pat_id_10672 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 602473 C535737 neant 51188 C1865349 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Encefalopatia etilmalonica Encefalopatia etilmalónica Encefalopatía etilmalónica Encéphalopathie éthylmalonique Ethylmalonic encephalopathy Ethylmalonsäure-Enzephalopathie hrdo:pat_id_10673 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 229100 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=formiminotransferase+deficiency%5Btitle/abstract%5D D52.8 51208 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficit di FTCD Deficit di formiminotransferasi ciclodeaminasi Deficit di glutammato formiminotransferasi Deficiência de glutamato formiminotransferase Déficit de FTCD Déficit de formiminotransferasa ciclodeaminasa Déficit de glutamato formiminotransferasa Déficit en FTCD Déficit en formiminotransférase cyclodéaminase Déficit en glutamate formiminotransférase FTCD deficiency FTCD-Mangel Formimidoyltransferase-Cyclodeaminase-Mangel Formiminotransferase cyclodeaminase deficiency Glutamat-Formiminotransferase-Mangel   Glutamate formiminotransferase deficiency Glutamato formiminotransferase, deficiência de Aciduria formiminoglutamica Aciduria formiminoglutámica Acidurie formimino-glutamique Acidúria formiminoglutâmica Formiminoglutamic aciduria Formiminoglutaminsäure-Krankheit hrdo:pat_id_10674 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Lissencephaly%5Btw%5D+%28type+2%5Btw%5D+OR+type+ii%5Btw%5D+OR+cobblestone+OR+fukuyama+OR+walker+warburg+OR+muscle+eye+brain%29 Q04.3 51577 253149002 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo group of phenomes 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 'Kopfsteinpflaster'-Dysplasie 'Lisencefalia ''en empedrado''' Cobblestone-Lissenzephalie Lisencefalia com aspecto de seixo Lisencefalia com aspeto de seixo Lissencefalia con aspetto ciottolato Lissencephaly type 2 Lissencéphalie type 2 Cobblestone lissencephaly Lisencefalia tipo 2 Lisencefalia tipo 2 Lissencefalia, tipo 2 Lissencéphalie pavimenteuse Lissenzephalie Typ 2 hrdo:pat_id_10675 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 208000 614473 C537440 neant Q28.8 51608 68926002 C0264955 C1859727 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Arterienkalzifikation, idiopathische infantile Arteriopathie, idiopathische obliterative Arteriopathie, infantile okklusive Arteriopatia infantile idiopatica Arteriopatia obliterante idiopatica Arteriopatía obliterante idiopática Arteriopatía oclusiva infantil Arteriosclerosi infantile Arteriosclerosis infantil Arteriosklerose, infantile Artériopathie oblitérante idiopathique Artériopathie occlusive infantile Artériosclérose infantile Calcificación arterial infantil idiopática Calcification artérielle idiopathique infantile Calcificazione arteriosa infantile idiopatica Idiopathic infantile arterial calcification Idiopathic obliterative arteriopathy Infantile arteriosclerosis Occlusive infantile arteriopathy Arterienkalzifikation, generalisierte infantile Calcificación arterial generalizada de la infancia Calcification artérielle généralisée infantile Calcificazione arteriosa generalizzata dell'infanzia Calcificação arterial generalizada da infância Generalized arterial calcification of infancy hrdo:pat_id_10676 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 193670 C536697 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=WHIM+syndrome D81.8 51636 234571003 C0472817 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Verrues - hypogammaglobulinémie - infections - myélokathexis Verrugas - hipogamaglobulinemia - infecções - mielocatexia Verrugas - hipogamaglobulinemia - infeções - mielocatexia Verrugas - hipogammaglobulinemia -infecciones - mielocatexis Warts-hypogammaglobulinemia-infections-myelokathexis Warzen - Hypogammaglobulinämie - Infektionen - Myelokathexis Sindrome WHIM Syndrome WHIM Síndrome WHIM Síndrome WHIM WHIM syndrome WHIM-Syndrom hrdo:pat_id_10677 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant G58.0 51890 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Intercostal nerve syndrome Intercostalnerven-Syndrom Nervos intercostais, síndrome dos Rectos abdominais, síndrome Rectus abdominis syndrome Rectus abdominis-Syndrom Sindrome del muscolo retto dell'addome Sindrome del nervo intercostale Syndrome du nerf intercostal Síndrome dos nervos intercostais Síndrome rectos abdominais Komar syndrome Kómár-Syndrom Sindrome di Komae Syndrome de Komar Síndrome de Komar Síndrome de Komar hrdo:pat_id_10684 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601224 C538356 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=%22Potocki+Shaffer%22+OR+defect11+OR+((11p11*%5Bti%5D+OR+11p%5Bti%5D)+deletion%5Bti%5D+syndrome) Q93.5 52022 C1832588 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 11p11.2 deletion Deletion 11p11.2 Delezione 11p11.2 Deleção 11p proximal, síndrome Deleção 11p11.2 Délétion 11p11.2 Délétion proximale 11p Proximal 11p deletion syndrome Proximales 11p Deletions-Syndrom Sindrome da delezione 11p prossimale Síndrome deleção 11p proximal Potocki-Shaffer syndrome Potocki-Shaffer-Syndrom Sindrome di Potocki-Shaffer Syndrome de Potocki-Shaffer Síndrome de Potocki-Shaffer Síndrome de Potocki-Shaffer hrdo:pat_id_10685 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 608406 neant Q87.8 52047 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Braddock, síndrome de Sindrome VATER-simile - ipertensione polmonare - orecchie anomale - difetto di crescita Syndrome de Vater-like - hypertension pulmonaire - anomalies des oreilles - retard de croissance Síndrome de Braddock Síndrome de Braddock VATER-ähnliches Syndrom - pulmonale Hypertension - Ohranomalien - Kleinwuchs Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency Braddock syndrome Braddock-Syndrom Sindrome di Braddock Syndrome de Braddock Síndrome Vater-like com hipertensão pulmonar - anomalias dos pavilhões auriculares - atraso de crescimento Síndrome de Vater-like, con hipertensión pulmonar, anomalías de las orejas y retraso del crecimiento hrdo:pat_id_10687 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 608432 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=craniosynostoses+intracranial+calcification Q87.0 52054 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Longman-Tolmie syndrome Longman-Tolmie, síndrome de Longman-Tolmie-Syndrom Sindrome di Longman-Tolmie Syndrome de Longman-Tolmie Síndrome de Longman-Tolmie Síndrome de Longman-Tolmie Craneosinostosis - calcificaciones intracraneales Craniosinostosi - calcificazioni intracraniche Craniossinostose - calcificações intracranianas Craniosynostose - calcifications intracrâniennes Craniosynostosis - intracranial calcifications Kraniosynostose - intrakraniale Verkalkungen hrdo:pat_id_10688 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300472 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=agenesis+corpus+callosum+mental+retardation+Xq13 Q87.8 52055 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Graham-Cox syndrome Graham-Cox, síndrome de Graham-Cox-Syndrom Sindrome di Graham-Cox Syndrome de Graham-Cox Síndrome de Graham-Cox Síndrome de Graham-Cox Agenesia de cuerpo calloso ligada al X, con mutación en el gen Alfa 4 Agenesia del corpo calloso - ritardo mentale - coloboma - micrognazia Agenesia do corpo caloso - atraso mental - coloboma - micrognatia Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia Agénésie du corps calleux - déficit intellectuel - colobome - micrognathie Corpus-callosum-Agenesie - geistige Retardierung - Kolobom - Mikrognathie hrdo:pat_id_10689 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 608571 neant Q73.8 52056 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Morava-Mehes syndrome Morava-Mehes, síndrome de Morava-Mehes-Syndrom Sindrome di Morava-Mehes Syndrome de Morava-Mehes Síndrome de Morava-Mehes Síndrome de Morava-Mehes Defecto de rayo cubital / peronéo, con braquidactilia Defeito radial do cúbito/perónio com braquidactilia Difetto ulna-fibula con brachidattilia Hypoplasie du péroné et du cubitus - brachydactylie Ulna/Fibula-Radiusdefekt - Brachydaktylie Ulnar/fibula ray defect - brachydactyly hrdo:pat_id_10690 251200 neant 52183 malformation syndrome Condensación prematura de cromosomas con microcefalia y déficit intelectual Condensation chromosomique prématurée - microcéphalie - déficit intellectuel Condensazione prematura dei cromosomi - microcefalia - ritardo mentale Condensação precoce dos cromossomas - microcefalia - atraso mental Premature chromosome condensation with microcephaly and intellectual deficit Vorzeitige Chromosomenkondensation mit Mikrozephalie und mentaler Retardierung hrdo:pat_id_10691 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Variabel Variabile Variable Variable Variable Variable Variável 304700 C535808 neant 52368 C0796074 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 DDON syndrome Deafness - dystonia - optic neuronopathy syndrome Sindrome DDON Sindrome sordità-distonia-neuropatia ottica Surdez - distonia - atrofia óptica, síndrome Surdité - dystonie - neuronopathie optique Syndrome DDON Síndrome DDON Síndrome de sordera - distonía - neuronopatía óptica Síndrome surdez - distonia - atrofia ótica Taubheit - Dystonie - Optikusatrophie Mohr-Tranebjaerg syndrome Mohr-Tranebjaerg-Syndrom Sindrome di Mohr-Tranebjaerg Syndrome de Mohr-Tranebjaerg Síndrome de Mohr-Tranebjaerg Síndrome de Mohr-Tranebjaerg hrdo:pat_id_10693 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D020522 10061275 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Mantle+cell+lymphoma%5Bti%5D+OR+lymphoma%2C+Mantle+cell%5Bmh%5D C83.1 52416 443487006 74654000 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 LCM LCM LCM Linfoma de la zona del manto Linfoma della zona mantellare MCL MCL MCL MCL MCL Mantle zone lymphoma Linfoma a cellule mantellari Linfoma das células do manto Linfoma de células del manto Lymphome à cellules du manteau Mantelzell-Lymphom Mantle cell lymphoma hrdo:pat_id_10694 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 137245 10060707 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28B-cell+lymphoma*+mucosa-associated+lymphoid+tissue+OR+MALT+lymphoma*%29+%28bcl+10%5Btw%5D+OR+bcl10%29 C88.4 52417 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Extranodal marginal zone B-cell lymphoma Linfoma de tejido linfoide asociado a mucosa Linfoma de tejido linfático asociado a mucosa Linfoma del tessuto linfatico associato alle mucose Linfoma del tessuto linfoide associato alle mucose Linfoma della zona marginale extranodale Linfoma extranodal de zona marginal Lymphom des mukosa-assoziierten lymphatischen Gewebes Lymphome du tissu lymphoïde associé aux muqueuses Lymphome extraganglionnaire de la zone marginale MALTom MALToma MALToma MALToma Marginalzonen-Lymphom, extranodales Mucosa-associated lymphatic tissue lymphoma Mucosa-associated lymphoid tissue lymphoma Linfoma MALT Linfoma MALT Linfoma MALT Lymphome MALT MALT lymphoma MALT-Lymphom hrdo:pat_id_10695 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 136880 neant H35.5 52427 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Fundus albipunctatus Retinite pontuada albescens Retinite puntata albescens Retinitis punctata albescens Retinitis punctata albescens Retinitis punctata albescens Rétinite ponctuée albescente hrdo:pat_id_10696 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 606612 neant G71.2 52428 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Congenital muscular dystrophy type 1C Distrofia muscolare congenita, tipo 1C Distrofia muscular congénita tipo 1C Distrofia muscular congénita tipo 1C Dystrophie musculaire congénitale type 1C Muskeldystrophie, kongenitale, Typ 1C hrdo:pat_id_10697 120502 602588 608389 neant Q87.8 52429 malformation syndrome Branchio-otic syndrome Branchio-otogenes-Syndrom Sindrome branchio-ottica Syndrome branchio-otique Síndrome branquio-ótico Síndrome branquio-ótico hrdo:pat_id_10698 167320 neant G71.8 52430 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Cvlérose latérale amyotrophique pagétoïde Dystrophie musculaire des ceintures avec maladie de Paget IBMPFD IBMPFD Limb-girdle muscular dystrophy with Paget disease of bone Pagetoid amyotrophic lateral sclerosis Pagetoid neuroskeletal syndrome Syndrome neurosquelettique pagetoïde Einschlusskörperchenmyopathie - Paget-Syndrom - frontotemporale Demenz Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Miopatia com corpos de inclusão - doença de Paget - demência fronto-temporal Miopatia da corpi inclusi associata alla malattia dell'osso di Paget e demenza frontotemporale Miopatía de cuerpos de inclusión asociada a enfermedad de Paget y demencia frontotemporal Myopathie à inclusions - maladie de Paget - démence fronto-temporale hrdo:pat_id_10699 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 300352 neant E72.8 52503 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficiência de transportador da creatina Déficit de transportador de creatina Déficit intelectual ligado al X - convulsiones - estatura baja - hipoplasia del tercio medio facial Déficit intellectuel lié à l'X - convulsions - petite taille - hypoplasie de l'étage moyen de la face Geistige Retardierung, X-chromosomale - Krämpfe - Kleinwuchs - Mittelgesichtshypoplasie Kreatin-Transporter-Defekt Ritardo mentale legato all'X - convulsioni - bassa statura - ipoplasia mediofacciale Transportador da creatina, deficiência de X-linked intellectual deficit - seizures - short stature - midface hypoplasia Atraso mental ligado ao X - epilepsia - baixa estatura - hipoplasia do terço médio da face Deficit del trasportatore della creatina legato all'X Déficit de transportador de creatina ligado al X Déficit en transporteur de la créatine lié à l'X Kreatin-Transporter-Mangel, X-chromosomaler X-linked creatine transporter deficiency hrdo:pat_id_107 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 126200 223300 612594 612595 612596 614810 D009103 10028245 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22multiple+sclerosis%22%5BMeSH+Terms%5D+OR+%28%28Multiple+Sclerosis%5BTi%5D+OR+autoimmune+encephalomyelitis%5Bti%5D%29+NOT+medline%5Bsb%5D%29 G35 802 24700007 C0026769 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 Esclerosis múltiple SEP Esclerose múltipla Esclerosis en placas Multiple Sklerose Multiple sclerosis Sclerosi multipla Sclérose en plaques hrdo:pat_id_1070 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 212135 C535850 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=heart+limb+shortening+Reardon Q87.2 1354 C1859327 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cardiopathie congénitale - membres courts Cardiopatia - encurtamento de membros Cardiopatia congenita - arti corti Cardiopatía congénita miembros cortos Heart defects - limb shortening Kardiopathie - Extremitätenverkürzung hrdo:pat_id_10700 177820 neant D69.8 52530 128115005 disease Enfermedad de Pseudo-Von Willebrand tipo 2B Enfermedad de Von Willebrand, tipo plaquetario Malattia di Von Willebrand, tipo piastrinico Malattia pseudo-Von Willebrand, tipo 2B PT-VWD PT-VWD Pseudo-Von Willebrand disease Pseudo-Von Willebrand disease type 2B Pseudo-maladie de Willebrand Pseudo-maladie de Willebrand type 2B Doença pseudo-Von Willebrand Enfermedad de Pseudo-Von Willebrand Maladie de Von Willebrand type plaquette Malattia pseudo-Von Willebrand Pseudo-von-Willebrand-Syndrom Von Willebrand disease, platelet type hrdo:pat_id_10701 52662 group of phenomes Acquired embryofetopathy Embriofetopatia acquisita Embriofetopatía adquirida Embryo-foetopathie acquise Embryofetopathie, erworbene Teratologia Teratologie Teratology Teratología Tératologie Doença teratológica Enfermedad teratológica rara Maladie tératologique rare Malattia teratologica Rare teratologic disease Teratologische Krankheit hrdo:pat_id_10703 Variabel Variabile Variable Variable Variable Variable Variável 614286 D009190 10028532 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=myelodysplastic+syndromes%5Bmh%3Anoexp%5D+OR+Myelodysplastic+syndrome*%5Bti%5D D46 52688 109995007 128623006 188736006 C0026985 group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Myelodysplastic syndromes Myelodysplastische Syndrome Sindromi mielodisplastiche Syndromes myélodysplasiques Síndromes mielodisplásicos Síndromes mielodisplásicos hrdo:pat_id_10704 D014657 D056647 10036023 10047115 52759 31996006 46956008 C0042384 C0264939 group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Systemic vasculitis Vascularite systémique Vaskulitis, systemische Vasculite Vasculite Vasculite Vasculitis Vasculitis Vaskulitis hrdo:pat_id_10706 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 229070 C537070 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Follicle+stimulating+hormone%2Fdf+OR+((follicle+stimulating%5Bti%5D+OR+FSH%5Bti%5D)+defici*%5Bti%5D))+isolated E23.6 52901 C1856716 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Déficit isolé en FSH Follikelstimulierendes-Hormon-Mangel, isolierter Isolated FSH deficiency Deficit isolato dell'ormone follicolo-stimolante (FSH) Deficiência isolada de hormona foliculo-estimulante (FSH) Déficit aislado de hormona estimulante folicular (FSH) Déficit isolé en hormone folliculo-stimulante Follicle-Stimulating Hormone (FSH)-Mangel, isolierter Isolated follicle stimulating hormone deficiency hrdo:pat_id_1071 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 254940 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Carey+fineman+ziter+syndrome+OR+%28%28myopathies+OR+MYOPATHY%29+%28MOEBIUS%5Bti%5D+OR+mobius%5Bti%5D%29+ROBIN%5Bti%5D%29 Q87.0 1358 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Miopatia - Moebius-Robin, síndrome Miopatia - sequenza di Moebius - sequenza di Pierre Robin Miopatia - sequenza di Moebius - sequenza di Robin Miopatía - síndrome de Moebius-Robin Myopathie - séquence de Moebius - séquence de Robin Myopathie-Moebius-Robin-Syndrom Myopathy - Moebius - Robin syndrome Síndrome de miopatia - Moebius-Robin Carey-Fineman-Ziter syndrome Carey-Fineman-Ziter-Syndrom Sindrome di Carey-Fineman-Ziter Syndrome Carey-Fineman-Ziter Síndrome de Carey-Fineman-Ziter Síndrome de Carey-Fineman-Ziter hrdo:pat_id_10714 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Orbital+leiomyoma*%5Bti%5D+OR+%28Orbital+Neoplasms%5Bmajr%5D+leiomyoma%5Bmajr%5D%29 D31.6 52994 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Leiomioma da órbita Leiomioma orbital Leiomioma orbitale Leiomyom, orbitales Léiomyome orbitaire Orbital leiomyoma hrdo:pat_id_10715 Variabel Variabile Variable Variable Variable Variable Variável 600643 C531647 D016767 10013003 neant Q44.6 53035 111331000 C0162510 C1833541 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Caroli disease Caroli-Krankheit Doença de Caroli Enfermedad de Caroli Maladie de Caroli Malattia di Caroli hrdo:pat_id_10716 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 602849 C537369 neant Q87.0 53271 440350001 C1864436 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Craniosinostose coronal não-sindrómica de Muenke Muenke syndrome Muenke-Syndrom Sindrome di Muenke Syndrome de Muenke Síndrome de Muenke Síndrome de Muenke hrdo:pat_id_10718 115250 neant L94.8 53296 239139000 C0406817 disease Colagenoma cutâneo, familiar Colagenoma, familiar, cutáneo Collagenoma cutaneo familiare Collagénome cutané familial Familial cutaneous collagenoma Kollagenom, familiäres kutanes hrdo:pat_id_10719 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 601003 C536607 neant G71.8 53347 C1832918 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Brody myopathy Brody-Myopathie Miopatia de Brody Miopatia di Brody Miopatía de Brody Myopathie de Brody hrdo:pat_id_1072 Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28cavernous%5Bti%5D+cerebral%5Bti%5D+cerebral+arteriovenous+malformations/ge%29+OR+%28brain+neoplasms%5Bmajr%3Anoexp%5D+hemangioma%2C+cavernous/ge%29 D18.0 164 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Angioma cavernoso cerebral Angiomatosi cavernosa del cervello Angiomatosis cavernosa del cerebro Brain cavernous angioma Cerebral cavernoma Fehlbildung, kavernöse zerebrale Malformación cavernosa cerebral Malformation caverneuse cérébrale Malformazione cavernosa cerebrale Malformação cavernosa cerebral Cavernoma cerebrale Cavernomas cerebrales Cavernome cérébral Cerebral cavernous malformations Kavernom, zerebrales Malformações cavernosas cerebrais hrdo:pat_id_10720 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 314250 neant G24.1 53351 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 DYT3 DYT3 DYT3 Distonia di torsione legata all'X, tipo 3 Lubag Lubag Lubag Distonia - Parkinsonismo, ligado ao X Distonia-parkinsonismo legato all'X Distonía-parkinsonismo, ligado al X Dystonie - parkinsonisme, lié à l'X Dystonie-Parkinson-Syndrom, X-chromosomales X-linked dystonia-parkinsonism hrdo:pat_id_10721 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 190100 C537682 neant G25.3 53372 C2931589 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Familial trembling of the chin Familiäres Zittern des Kinns Hereditary chin myoclonus Hereditary chin-trembling Kinn-Myoklonus, hereditärer Tremblement familial du menton Tremblement héréditaire du menton Geniospasmo Geniospasmo Geniospasmo o espasmo mandibular Geniospasmus, hereditärer Géniospasme héréditaire Hereditary geniospasm hrdo:pat_id_10723 Normal Normal Normal Normal Normal Normal Normale Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 268100 neant H35.5 53540 232065000 C0339541 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Enhanced S-cone syndrome Enhanced-S-Cone Syndrom Retinoschisi con nictalopia precoce Retinoschisis mit früher Nyktalopie Retinoschisis with early nyctalopia Retinosquisis com hemeralopia precoce Retinosquisis con nictalopía temprana Rétinoschisis - héméralopie précoce Sindrome da aumento dei coni S Syndrome d'augmentation des cônes bleus Síndrome del incremento de conos S Goldmann-Favre syndrome Goldmann-Favre-Syndrom Sindrome di Goldmann-Favre Syndrome de Goldmann-Favre Síndrome de Goldmann-Favre Síndrome de Goldmann-Favre hrdo:pat_id_10724 601042 neant G24.8 53583 disease Choréoathétose/spasticité épisodiques Coreoatetosi/spasticità episodiche Coreoatetosis/espasticidad episódicas DYT9 DYT9 DYT9 DYT9 Episodic choreoathetosis/spasticity Choreoathetose-Spastik, episodische Choréoathétose dystonique paroxystique avec ataxie épisodique et spasticité Coreoatetose - espasticidade, episódica Coreoatetosi distonica parossistica con atassia episodica e spasticità Coreoatetosis distónica paroxística con ataxia episódica y espasticidad Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity hrdo:pat_id_1073 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 211600 601847 602347 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(benign%5Bti%5D+recurrent%5Bti%5D)+intrahepatic+cholestasis%5Btw%5D+OR+(cholestasis,+intrahepatic+(familial+OR+inherited)+progressive) K83.1 172 74162007 C0268312 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CIPF PFIC PFIC PFIC PFIC Cholestase intrahépatique progressive familiale Cholestase, familiäre intrahepatische progressive Colestase intra-hepática progressiva familiar Colestasi progressiva familiare intraepatica Colestasis intrahepática familiar progresiva Progressive familial intrahepatic cholestasis hrdo:pat_id_10734 214700 C536210 neant P78.3 53689 24412005 C0267662 disease Chlorid-Diarrhoe-Syndrom Chlorid-Diarrhoe, kongenitale Congenital chloride diarrhea Diarrea congenita dei cloruri Diarrea congénita con pérdida de cloro Diarreia congénita por cloreto Diarrhée chlorée congénitale hrdo:pat_id_10735 223000 neant E73.0 53690 5388008 C0268179 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Congenital lactase deficiency Deficit congenito di lattasi Deficiência congénita de lactase Déficit congénital en lactase Déficit congénito de lactasa Laktase-Mangel, kongenitaler hrdo:pat_id_10736 121400 217300 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=cornea+plana%5Bti%5D Q13.4 53691 morphological anomaly Congenital cornea plana Cornea piana congenita Cornea plana congénitale Cornea plana, kongenitale Córnea plana congénita Córnea plana, congénita hrdo:pat_id_10737 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 603358 C537934 neant 53693 C1864002 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso de crescimento - aminoacidúria - colestase - sobrecarga de ferro - acidose láctica - morte precoce Fellman disease Growth delay - aminoaciduria - cholestasis - iron overload - lactic acidosis - early death Growth restriction - aminoaciduria - cholestasis - iron overload - lactic acidosis - early death Maladie de Fellman Retard de croissance - aminoacidurie - cholestase - surcharge en fer - acidose lactique - mort néonatale précoce Retraso del crecimiento, aminoaciduria, colestasis, sobrecarga de hierro, acidosis láctica y muerte prematura Ritardo di crescita - aminoaciduria - colestasi - sovraccarico marziale - acidosi lattica - morte prematura Wachstumsverzögerung - Aminoazidurie - Cholestase - Eisenüberladung - Laktatazidose - frühzeitiger Tod GRACILE syndrome GRACILE-Syndrom Sindrome GRACILE Syndrome GRACILE Síndrome GRACILE Síndrome GRACILE hrdo:pat_id_10738 611890 neant 53696 malformation syndrome Doença de Vuopala Enfermedad de Vuopala LAAHD LAAHD Maladie de Vuopala Malattia di Vuopala Vuopala disease Vuopala, doença de Arthrogrypose létale - maladie de la corne antérieure Arthrogrypose, letale - Verlust von Vorderhornzellen Artrogripose - doença das células dos cornos anteriores da medula, letal Artrogriposi letale con malattia delle cellule delle corna anteriori Artrogriposis letal con alteración celular de las astas medulares anteriores Lethal arthrogryposis - anterior horn cell disease hrdo:pat_id_10739 166260 neant 53697 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome GDD GDD GDD GDD GDD Displasia gnatodiafisaria Displasia gnatodiafisaria Displasia gnatodiafisária Dysplasie gnatho-diaphysaire Dysplasie, gnatho-diaphysäre Gnathodiaphyseal dysplasia hrdo:pat_id_10740 255160 608358 neant G71.2 53698 disease Hyaline body myopathy Miopatia con corpi ialini, autosomica dominante Miopatia de corpos hialinos autossómica dominante Miopatía, cuerpos hialinos, autosómica dominante Myopathie à corps hyalins Myosin-Myopathie, autosomal-dominante hrdo:pat_id_10741 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 211900 610455 10059364 neant M11.2 53715 61778004 C0263628 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Calcinose tumoral Calcinose tumorale Calcinosi tumorale Calcinosis, tumoral Kalzinose, tumorale Tumoral calcinosis hrdo:pat_id_10742 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter C536752 10048661 neant Q28.2 53719 6729006 C0265321 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Bonnet-Dechaume-Blanc syndrome Bonnet-Dechaume-Blanc, síndrome de Bonnet-Dechaume-Blanc-Syndrom CAMS 2 CAMS 2 Cerebrofacial arteriovenous metameric syndrome type 2 Sindrome di Bonnet-Dechaume-Blanc Syndrome de Bonnet-Dechaume-Blanc Síndrome de Bonnet-Dechaume-Blanc Sindrome di Wyburn-Mason Syndrome de Wyburn-Mason Síndrome de Wyburn-Mason Síndrome de Wyburn-Mason Wyburn-Mason syndrome Wyburn-Mason-Syndrom hrdo:pat_id_10743 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 10068841 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=%22Cobb+syndrome%22+OR+(spinal%5Btw%5D+arteriovenous%5Btw%5D+metameric+syndrome+%5Btw%5D) Q27.3 53721 254774003 C0346068 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Angiomatose cutaneo-meningo-espinal Angiomatose cutanéo-méningo-spinale Angiomatose, kutanmengiospinale Cutaneomeningospinal angiomatosis SAMS 1-31 SAMS 1-31 Spinal arteriovenous metameric syndrome Spinales arteriovenöses metameres Syndrom (SAMS 1-31) Syndrome métamére artérioveineux spinal Cobb syndrome Cobb-Syndrom Sindrome di Cobb Syndrome de Cobb Síndrome de Cobb Síndrome de Cobb hrdo:pat_id_10744 neant G12.2 53739 group of phenomes Amyotrophie spinale distale Atrofia muscular espinal distal Distal spinal muscular atrophy dHMN dHMN dHMN dSMA dSMA dSMA Distal hereditary motor neuropathy Neuropathie motrice distale héréditaire Neuropathie, distale kongenitale motorische Neuropatia motora distal hereditária Neuropatia motoria distale ereditaria, tipo Jerash Neuropatía motora distal hereditaria hrdo:pat_id_10745 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D011004 10040664 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Plummer+Vinson%5Btw%5D+OR+Patterson+Kelly%5Btw%5D+OR+Plummer-Vinson+Syndrome%5Bmh%5D D50.1 54028 80126007 C0032249 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Disfagia sideropenica Disfagia sideropénica Dysphagie sidéropénique Dysphagie, sideropenische Kelly-Paterson syndrome Kelly-Paterson-Syndrom Sideropenic dysphagia Sindrome di Kelly-Paterson Syndrome de Kelly-Paterson Síndrome de Kelly-Paterson Plummer-Vinson syndrome Plummer-Vinson-Syndrom Sindrome di Plummer-Vinson Syndrome de Plummer-Vinson Síndrome de Plummer-Vinson Síndrome de Plummer-Vinson hrdo:pat_id_10746 Variabel Variabile Variable Variable Variable Variable Variável D011697 10043648 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Thrombotic+thrombocytopenic+purpura D69.4 54057 78129009 C0034155 disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Maladie de Moschcowitz Moschcowitz disease PTT TTP Porpora trombocitopenica trombotica Purpura thrombotique thrombocytopénique Purpura, thrombotische thrombozytopenische Púrpura trombocitopénica trombótica Púrpura trombocitopénica trombótica Thrombotic thrombocytopenic purpura hrdo:pat_id_10747 neant G71.1 54238 disease Distrofia miotonica, tipo 3 Distrofia miotónica tipo 3 Distrofia miotónica, tipo 3 Dystrophie myotonique type 3 Myotone Dystrophie Typ 3 Myotonic dystrophy type 3 hrdo:pat_id_10748 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Posterior+Cortical+Atrophy%5Btw%5D G31.1 54247 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown ACP ACP Benson's syndrome Benson, síndrome de Benson-Syndrom PCA PCA PCA Sindrome di Benson Syndrome de Benson Síndrome de Benson Síndrome de Benson Atrofia cortical posterior Atrofia cortical posterior Atrofia corticale posteriore Atrophie corticale postérieure Atrophie, kortikale posteriore Posterior cortical atrophy hrdo:pat_id_10749 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28aseptic%5Btw%5D+%28abscess*%5Bti%5D+OR+abscess%5Bmajr%5D%29%29+%28Inflammatory+Bowel+Diseases+OR+ibd%5Btw%5D+OR+glucocorticoids%29 54251 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Abcessos asséticos disseminados Abcessos asséticos sistémicos Abcessos asépticos disseminados Abcessos asépticos sistémicos Abcessos asépticos, síndrome Abcès aseptiques disséminés Abcès aseptiques systémiques Abscesos asépticos diseminados Abscesos sistémicos asépticos Abzesse, aseptische disseminierte Abzesse, aseptische systemische Ascessi asettici disseminati Ascessi asettici sistemici Aseptic abscesses syndrome Aseptic systemic abscesses Disseminated aseptic abscesses Sindrome da ascessi asettici Syndrom der aseptischen Abszesse Syndrome des abcès aseptiques Síndrome abcessos asséticos Síndrome de abscesos asépticos Abcessos asséticos cortico-sensíveis Abcès aseptique cortico-sensible Abscesos asépticos sensibles a corticosteroides Abzesse, aseptische kortikosteroid-sensitive Ascessi asettici sensibili ai corticosteroidi Corticosteroid-sensitive aseptic abscesses hrdo:pat_id_1075 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance C535361 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Chromosome+1%5Bmh%5D+ring+chromosomes%5Bmh%5D)+OR+ring+chromosome+1%5Btw%5D Q93.2 1437 47017007 C0265395 C1519099 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anel do cromossoma 1 Chromosome 1 en anneau Cromosoma 1 ad anello Cromosoma 1 en anillo Cromossoma 1 em anel Ring chromosome 1 Ringchromosom 1 hrdo:pat_id_10750 Variabel Variabile Variable Variable Variable Variable Variável 601493 601494 604169 609470 613424 613426 615092 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=noncompaction+%28Hypertrophy%2C+Left+Ventricular+AND+Cardiomyopathy%2C+Hypertrophic+OR+Left+ventricular%5Bti%5D%29 I42.8 54260 427608000 C1960469 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Herencia mitocondrial Hérédité mitochondriale Ligado ao X recessivo Mitochondrial inheritance Mitochondrial inheritance Mitochondriale Vererbung Modo de hereditariedade mitocondrial Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X Trasmissione mitocondriale X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hipertrabeculação ventricular esquerda Hypertrabekulierung, linksventrikuläre Hypertrabéculation ventriculaire gauche Ipertrabecolazione del ventricolo sinistro Left ventricular hypertrabeculation Miocardio esponjoso Miocardio spongioso Myocarde spongieux Myokard, spongiöses Spongy myocardium Left ventricular noncompaction Mancato assemblaggio del ventricolo sinistro No compactación del ventrículo izquierdo Non-Compaction-Kardiomyopathie, isolierte linksventrikuläre Non-compaction ventriculaire gauche Não-compactação ventricular esquerda hrdo:pat_id_10752 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D018248 10019827 neant D13.4 54272 78058005 C0206669 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Adenom, hepatozelluläres Adenoma epatocellulare Adenoma hepatocelular Adenoma hepatocelular Adénomatose du foie Hepatocellular adenoma hrdo:pat_id_10754 D012523 10039483 neant A07.8 54368 88905005 C0036231 disease Sarcosporidiose Sarcosporidiose Sarcosporidiosi Sarcosporidiosis Sarcosporidiosis Sarkosporidiose Sarcocistose Sarcocistosi Sarcocistosis Sarcocystose Sarcocystosis Sarcocystosis hrdo:pat_id_10755 305800 609814 614809 615008 D015432 10018370 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Membranoproliferative+glomerulonephritis%5Bti%5D+OR+Glomerulonephritis,+Membranoproliferative%5Bmajr%5D 54370 80321008 C0017662 disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Glomerulonefrite mesangio-capillare Glomerulonefrite mesangiocapilar Glomerulonefritis mesangiocapilar Glomerulonephritis, mesangiokapilläre Glomérulonéphrite mésangiocapillaire MPGN MPGN MPGN MPGN Mesangiocapillary glomerulonephritis Glomerulonefrite membrano-proliferativa Glomerulonefrite membrano-proliferativa Glomerulonefritis membranoproliferativa Glomerulonephritis, membranoproliferative Glomérulonéphrite membranoproliférative primaire Primary membranoproliferative glomerulonephritis hrdo:pat_id_10756 Variabel Variabile Variable Variable Variable Variable Variável D003397 10011318 neant D44.4 54595 189179009 40009002 C0010276 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Craneofaringioma Cranio-faringioma Craniofaringioma Craniopharyngioma Craniopharyngiome Kraniopharyngeom hrdo:pat_id_10758 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 608423 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%28muscular+dystroph*%5BTw%5D+OR+muscular+dystrophies%5BMH%5D%29+%28If%5Btw%5D+OR+1f%5Btw%5D%29%29+OR+LGMD1f%5Btw%5D G71.0 55595 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 LGMD1F LGMD1F LGMD1F LGMD1F LGMD1F Autosomal dominant limb-girdle muscular dystrophy type 1F Distrofia muscolare dei cingoli, autosomica dominante, tipo 1F Distrofia muscular das cinturas autossómica dominante tipo 1F Distrofia muscular de cinturas autosómica dominante tipo 1F Dystrophie musculaire des ceintures autosomique dominante type 1F Gliedergürtelmuskeldystrophie, autosomal-dominante, Typ 1F hrdo:pat_id_10759 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 609115 neant G71.0 55596 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 LGMD1G LGMD1G LGMD1G LGMD1G LGMD1G Autosomal dominant limb-girdle muscular dystrophy type 1G Distrofia muscolare dei cingoli, autosomica dominante, tipo 1G Distrofia muscular das cinturas autossómica dominante tipo 1G Distrofia muscular de cinturas autosómica dominante tipo 1G Dystrophie musculaire des ceintures autosomique dominante type 1G Gliedergürtelmuskeldystrophie, autosomal-dominante, Typ 1G hrdo:pat_id_1076 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance C538086 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Chromosome+10%5Bmh%5D+ring+chromosomes%5Bmh%5D)+OR+ring+chromosome+10%5Btw%5D+OR+ring+10+chromosome%5Btw%5D Q93.2 1438 86997002 C0265438 C2931727 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anel do cromossoma 10 Chromosome 10 en anneau Cromosoma 10 ad anello Cromosoma 10 en anillo Cromossoma 10 em anel Ring chromosome 10 Ringchromosom 10 hrdo:pat_id_10760 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 278150 604379 605389 607903 614237 614238 615059 C537160 neant L65.8 55654 C1854310 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hereditary hypotrichosis simplex Hipotricosis hereditaria simple Hypotrichose héréditaire simple Hypotrichosis simplex, hereditäre Ipotricosi semplice ereditaria Hipotricose simples Hipotricosis simple Hypotrichose simple Hypotrichosis simplex Hypotrichosis simplex Ipotricosi semplice hrdo:pat_id_10761 D008586 10027253 neant G00.1 55655 51169003 C0025295 disease Meningite pneumococcica Meningite pneumocócica Meningitis neumocócica Méningite à pneumocoques Pneumococcal meningitis Pneumokokken-Meningitis hrdo:pat_id_10762 215300 D002813 10008734 55880 443520009 C0008479 disease Chondrosarcoma Chondrosarcome Chondrosarkom Condrosarcoma Condrosarcoma Condrosarcoma hrdo:pat_id_10763 Normal Normal Normal Normal Normal Normal Normale Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 102660 D050398 55881 C1367554 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Adamantinom Adamantinoma Adamantinoma Adamantinoma Adamantinoma Adamantinome hrdo:pat_id_10765 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=gallbladder%5Bti%5D+gallbladder+neoplasms%5Bmajr%5D+carcinoma C23 56044 372140005 C0235782 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Cancer de la vésicule biliaire Cancro della colecisti Cáncer de la vesícula biliar GBC GBC GBC Gallbladder cancer Carcinoma da vesícula biliar Carcinoma de la vesícula biliar Carcinoma della colecisti Carcinoma of the gallbladder Carcinome de la vésicule biliaire Gallenblasenkarzinom hrdo:pat_id_10766 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 256050 C535395 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Atelosteogenesis%5Bti%5D+AND+%28ii%5Bti%5D+OR+type+2%5Bti%5D%29+OR+CHAPELLE+DYSPLASIA%5Bti%5D Q77.5 56304 254055004 C0432203 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Chondrodysplasie létale type de la Chapelle De la Chapelle dysplasia Displasia De la Chapelle Displasia de la Chapelle Displasia di De la Chapelle Displasia ossea neonatale 1 Displasia ósea neonatal 1 Displasia óssea neonatal 1 Dysplasie Typ De-la-Chapelle Dysplasie osseuse néonatale type 1 Dysplasie, neonatale ossäre, Typ 1 Neonatal osseous dysplasia type 1 Atelosteogenesi 2 Atelosteogenesis II Atelosteogenesis type II Atelosteogénese II Atelosteogénesis II Atélostéogenèse type 2 hrdo:pat_id_10767 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 108721 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Atelosteogenesis%5Bti%5D+AND+III%5Btw%5D+OR+Atelosteogenesis+type+3%5Btw%5D+OR+Atelosteogenesis+type+3%5Btw%5D Q78.8 56305 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atelosteogenesi 3 Atelosteogenesis III Atelosteogenesis type III Atelosteogénese III Atelosteogénesis III Atélostéogenèse type 3 hrdo:pat_id_10768 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Cold+agglutinin%5Btw%5D+autoimmune+hemolytic+anemia D59.1 56425 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 CAD CAD CAD CAD CAS CAS CAS CAS Chronic cold agglutinin disease Cold agglutinin syndrome Enfermedad de la aglutinina fría Kälteagglutinin-Syndrom Kälteagglutininkrankheit, chronische Malattia cronica delle agglutinine fredde Sindrome delle agglutinine fredde Syndrome des agglutinines froides Cold agglutinin disease Doença de aglutininas frias Enfermedad de las crioaglutininas Kälteagglutininkrankheit Maladie des agglutinines froides Malattia delle agglutinine fredde hrdo:pat_id_10769 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 211500 D010244 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=FAZIO-LONDE+disease G12.1 56965 230246005 C0015708 C0393540 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Doença de Fazio-Londe Enfermedad de Fazio-Londe Fazio-Londe disease Fazio-Londe, doença de Fazio-Londe-Krankheit Maladie de Fazio-Londe Malattia di Fazio-Londe Paralisi bulbare progressiva dell'infanzia Paralisia bulbar progressiva da infância Paralysie bulbaire progressive de l'enfant Parálisis bulbar progresiva de la niñez Progressive Bulbärparalyse des Kindesalters Progressive bulbar paralysis of childhood hrdo:pat_id_1077 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=((Chromosome+12%5Bmh%5D+ring+chromosomes%5Bmh%5D)+OR+ring+chromosome+12%5Btw%5D)+NOT+Translocation%5Bmh%5D Q93.2 1439 malformation syndrome Anel do cromossoma 12 Chromosome 12 en anneau Cromosoma 12 ad anello Cromosoma 12 en anillo Cromossoma 12 em anel Ring chromosome 12 Ringchromosom 12 hrdo:pat_id_10770 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Human+%28Prion+Diseases+OR+Spongiform+Encephalopath*+%28Inherited+OR+Transmissible+%29%29 A81 56970 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Enfermedad priónica Maladie à prions Malattia da prioni Prion disease Prion-Krankheit Encefalopatias espongiformes transmissíveis (termo genérico) Encefalopatie spongiformi trasmissibili Encefalopatías espongiformes transmisibles Encéphalopathies spongiformes transmissibles Enzephalopathie, spongiforme transmissible Transmissible spongiform encephalopathies hrdo:pat_id_10771 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D050798 10061981 neant G44.8 57145 C1262087 disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Cefalea con attacchi neuralgiformi monolaterali di breve durata con iniezione congiuntivale e lacrimazione Cefalea unilateral neuralgiforme de breve duración con reacción conjuntival y lagrimeo Cefaleia neuralgiforme unilateral de curta-duração com hiperémia conjuntival e lacrimejo Kurz anhaltender einseitiger neuralgiformer Kopf- und Gesichtsschmerz mit konjunktivaler Injektion und Gesichtschwitzen Short-lasting Unilateral Neuralgiform headache attacks with Conjunctival injection and Tearing Syndrome SUNCT Céphalée névralgique unilatérale brève avec injection conjonctivale SUNCT syndrome SUNCT-Syndrom Sindrome SUNCT Síndrome SUNCT Síndrome SUNCT hrdo:pat_id_10772 57146 group of phenomes Doença hepática rara Hepática, enfermedad, rara Leberkrankheit, seltene Maladie hépatique rare Malattia epatica rara Rare hepatic disease hrdo:pat_id_10773 57194 disease Aseptic osteitis Osteite asettica Osteitis aséptica (término genérico) Osteitis, aseptische Osteíte assética (termo genérico) Ostéites aseptiques hrdo:pat_id_10774 neant Q74.0 57196 disease Kondensierende Ostitis der medialen Clavikula Medial condensing osteitis of the clavicle Osteite condensante della parte mediana della clavicola Osteitis condensante medial de la clavícula Osteíte condensante da clavícula medial Ostéite condensante médiale de la clavicule hrdo:pat_id_10775 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Cirrhotic+cardiomyopathy%5Btw%5D I42.8 57777 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cardiomiopatía cirrótica Cardiomiopatia cirrotica Cardiomyopathie cirrhotique Cirrhotic cardiomyopathy Kardiomyopathie, zirrhotische Miocardiopatia cirrótica Miocardiopatía cirrótica hrdo:pat_id_10777 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Mazabraud%5Btw%5D+OR+Mazabraud%27s%5Btw%5D+OR+%28myxoma+AND+%28fibrous+dysplasia%5Bti%5D+OR+fibrous+dysplasia+of+bone%5Bmh%5D%29%29 D21.9 M85.0 57782 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Mixoma com displasia fibrosa Mixoma con displasia fibrosa Myxom mit fibröser Dysplasie Myxoma with fibrous dysplasia Myxome - dysplasie fibreuse Mazabraud syndrome Mazabraud-Syndrom Sindrome di Mazabraud Syndrome de Mazabraud Síndrome de Mazabraud Síndrome de Mazabraud hrdo:pat_id_10778 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D007943 10019053 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Hairy+cell+leukemia C91.4 58017 118613001 54087003 C0023443 disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 HCL Haarzellenleukämie Leukemic Reticuloendotheliosis Reticoloendoteliosi leucemica Reticulo-endoteliose leucémica Réticuloendothéliose leucémique Haarzell-Leukämie (HCL) Hairy cell leukemia Leucemia a cellule capellute Leucemia de células cabeludas Leucemia de células peludas Leucémie à tricholeucocytes hrdo:pat_id_10779 D018215 10004430 58040 55333008 C0029417 disease Osteoblastom Osteoblastoma Osteoblastoma Osteoblastoma Osteoblastoma Ostéoblastome hrdo:pat_id_1078 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter C535369 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Chromosome+20%5Bmh%5D+ring+chromosomes%5Bmh%5D)+OR+ring+chromosome+20%5Btw%5D+OR+ring+20+chromosome%5Btw%5D Q93.2 1444 23686004 C0265482 C2930886 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anel do cromossoma 20 Chromosome 20 en anneau Cromosoma 20 ad anello Cromosoma 20 en anillo Cromossoma 20 em anel Ring chromosome 20 Ringchromosom 20 hrdo:pat_id_10780 Variabel Variabile Variable Variable Variable Variable Variável D010493 10034484 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Pericarditis%5Bti%5D+OR+Pericarditis%5Bmajr%5D I30 I31.0 I31.1 58208 23627006 3238004 C0031046 C0265143 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Pericardite Pericardite Pericarditis Pericarditis Perikarditis Péricardite hrdo:pat_id_10781 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D046728 10056979 neant K52.8 58220 235753003 C0400821 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Colite microscopica Colite microscopique Colite microscópica (termo genérico) Colitis microscópica (término genérico) Kolitis, mikroskopische Microscopic colitis hrdo:pat_id_10782 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 160500 neant G71.0 59135 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Distal myopathy type 1 Laing early-onset distal myopathy Laing-Myopathie MPD1 MPD1 MPD1 MPD1 MPD1 Miopatia distal tipo 1 Miopatia distale di Laing a esordio precoce Miopatia distale, tipo 1 Miopatía distal precoz de Laing Miopatía distal tipo 1 Myopathie distale précoce de Laing Myopathie distale type 1 Myopathie, distale, Typ 1 Laing distal myopathy Miopatia distal de Laing Miopatia distale di Laing Miopatía distal de Laing Myopathie distale type Laing Myopathie, distale, Typ Laing hrdo:pat_id_10783 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 136900 264420 neant H35.5 59181 193410003 C0339515 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Distrofia de Sorsby del fondo de ojos Distrofia del fondo oculare di Sorsby Distrofia fúndica de Sorsby Dystrophie de Sorsby Sorsby Fundusdystrophie (SFD) Sorsby's fundus dystrophy hrdo:pat_id_10785 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 272100 neant G37.0 59298 49692006 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Esclerose mielinoclástica difusa Myelinoclastic diffuse sclerosis Myelinoklastische diffuse Sklerose Schilder's disease Sclerosi mielinoclastica diffusa Sclérose myélinoclastique diffuse Doença de Schilder Enfermedad de Schilder Maladie de Schilder Malattia di Schilder Schilder disease Schilder-Krankheit hrdo:pat_id_10788 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 607626 59303 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 IHSC IHSC IHSC IHSC IHSC NISCH syndrome NISCH, síndrome NISCH-Syndrom Sindrome NISCH Syndrome NISCH Síndrome NISCH Síndrome NISCH Ichthyose - Hypotrichose - sklerosierende Cholangitis Ichthyosis - hypotrichosis - sclerosing cholangitis Ichtyose - hypotrichose - cholangite sclérosante Ictiose neonatal - colangite esclerosante Ictiosis - hipotricosis - colangitis esclerosante Ittiosi - ipotricosi - colangite sclerosante hrdo:pat_id_1079 C537636 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Chromosome+4%5Bmh%5D+ring+chromosomes%5Bmh%5D)+OR+ring+chromosome+4%5Btw%5D+OR+ring+4+chromosome%5Btw%5D Q93.2 1447 81678004 C0265407 C2931556 malformation syndrome Anel do cromossoma 4 Chromosome 4 en anneau Cromosoma 4 ad anello Cromosoma 4 en anillo Cromossoma 4 em anel Ring chromosome 4 Ringchromosom 4 hrdo:pat_id_10790 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D031901 10061988 neant 59305 416441004 417475006 C1135868 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown GTN GTN GTN NTG Schwangerschafts-Trophoblastentumor TTG Gestational trophoblastic neoplasm Neoplasia trofoblástica gestacional Neoplasie, gestationsbedingte trophoblastische Neoplasma trofoblástico gestacional Tumeur trophoblastique gestationnelle Tumore trofoblastico della gravidanza hrdo:pat_id_10791 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 300842 neant 59306 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 MLS Sindrome di McLeod legata all'X Syndrome de McLeod lié à l'X X-linked McLeod syndrome McLeod Neuro-Akanthozytose-Syndrom McLeod neuroacanthocytosis syndrome Sindrome da neuroacantocitosi di McLeod Syndrome de McLeod Síndrome de neurocantocitosis de McLeod Síndrome neuroacantocitose de Mc Leod hrdo:pat_id_10792 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q04.3 59315 442300000 C1866130 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Rhombencephalosynapsis Rhombencéphalosynapsis Rhombenzephalosynapsis Rombencefalossinapse Romboencefalosinapsi Romboencefalosinapsis hrdo:pat_id_10795 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D001129 10003094 neant T56.8 60014 255636009 66994003 77783001 C0003782 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Colorazione argento Coloração pela prata Imprégnation cutanéo-muqueuse à l'argent Silver staining Tinción de plata Tinción por exposición a plata Argiria Argiria Argiria Argyria Argyrie Argyrie hrdo:pat_id_10796 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 168500 609566 609597 Q75.8 60015 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Catlin marks Cranio bifido ereditario Cranium bifidum, hereditäres Cráneo bífido hereditario Crâne bifide héréditaire Enlarged parietal foramina Foramen parietal ampliado Forami parietali allargati Foramina parietal permagna Foramina parietalia permagna Foramina parietalia permagna Foramina parietalia permagna Foramina parietalia permagna Foramina parietalia permagna Foramina parietalia, vergrößertes Hereditary cranium bifidum Marcas de Catlin Marques de Catlin Segni di Catlin Foramen pariétal Forami parietali Foramina parietal Foramina parietal Foramina parietalia Parietal foramina hrdo:pat_id_10797 Variabel Variabile Variable Variable Variable Variable Variável 265100 10037315 neant J84.0 60025 87153008 C0155912 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Microlithiase pulmonaire alvéolaire Microlitiasi alveolare polmonare Microlitiasis alvéolo-pulmonar Microlitíase alveolar pulmonar Mikrolithiasis, alveoläre pulmonale Pulmonary alveolar microlithiasis hrdo:pat_id_10798 178610 60026 disease Pseudo-linfoma pulmonar Pseudolinfoma polmonare Pseudolinfoma pulmonar Pseudolymphom, pulmonales Pseudolymphome du poumon Pulmonary pseudolymphoma Hiperplasia linfoide nodular y pulmonar Hiperplasia linfóide nodular pulmonar Hyperplasie lymphoïde nodulaire pulmonaire Hyperplasie, lymphoide pulmonale noduläre Iperplasia linfatica nodulare polmonare Pulmonary nodular lymphoid hyperplasia hrdo:pat_id_10799 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 609192 610168 neant Q87.4 60030 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Aneurisma aórtico por anomalia nos receptores beta do TGF, síndrome Aortenaneurysma-Syndrom durch TGFbeta-Rezeptor-Anomalien Aortic aneurysm syndrome due to TGF-beta receptors anomalies Loeys-Dietz, síndrome de Sindrome dell'aneurisma aortico da anomalie dei recettori TGFbeta Síndrome aneurisma aórtico por anomalia nos recetores beta do TGF Síndrome de Loeys-Dietz Síndrome de aneurisma aórtico por anomalías en los receptores TGFbeta Loeys-Dietz syndrome type 1 Loeys-Dietz-Syndrom Typ 1 Sindrome di Loeys-Dietz, tipo 1 Syndrome de Loeys-Dietz type 1 Síndrome aneurisma aórtico tipo Loyes-Dietz Síndrome de Loeys-Dietz tipo 1 hrdo:pat_id_1080 C537763 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Chromosome+6%5Bmh%5D+ring+chromosomes%5Bmh%5D)+OR+ring+chromosome+6%5Btw%5D+OR+ring+6+chromosome%5Btw%5D Q93.2 1448 C0795814 C2931604 malformation syndrome Anel do cromossoma 6 Chromosome 6 en anneau Cromosoma 6 ad anello Cromosoma 6 en anillo Cromossoma 6 em anel Ring chromosome 6 Ringchromosom 6 hrdo:pat_id_10801 C535297 10059314 60032 C1168198 disease Papillomatose respiratoire récurrente Papillomatose, rekurrente respiratorische Papillomatosi ricorrente respiratoria Papilomatose respiratória recorrente Papilomatosis respiratoria recurrente Recurrent respiratory papillomatosis hrdo:pat_id_10802 211400 613021 613071 neant J47 60033 233629001 C0339985 disease Bronchiectasia idiopatica Bronchiectasie idiopathique Bronchiektasie, idiopathische Bronquiectasia idiopática Bronquiectasia idiopática Idiopathic bronchiectasis hrdo:pat_id_10804 Variabel Variabile Variable Variable Variable Variable Variável 60039 427972000 C1997249 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Alcock syndrome Alcock-Syndrom Algia del pudendo Algia pudenda Algie pudendale Compresión del nervio pudendo Compression du nerf pudendal Encarceramento do nervo pudendo Intrappolamento del nervo pudendo Neuropathie pudendale Neuropatia del pudendo Neuropatia do pudendo Neuropatía pudenda Pudendal algia Pudendal nerve entrapment Pudendal neuropathy Pudendus-Nervenkompression Pudendusneuropathie Sindrome di Alcock Syndrome d'Alcock Síndrome de Alcock Neuralgia do pudendo Neuralgia pudenda Nevralgia del nervo pudendo Névralgie pudendale Pudendal neuralgia Pudendusneuralgie hrdo:pat_id_10805 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 602501 neant Q87.3 60040 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 M-CM M-CM M-CM M-CM M-CM-Syndrom M-CMTC M-CMTC M-CMTC M-CMTC M-CMTC Macrocefalia - cutis marmorata telangectasica congenita Macrocefalia - cutis marmorata telangiectásica congénita Macrocephaly - cutis marmorata telangiectatica congenita Macrocéphalie - cutis marmorata telangiectatica congenita Makrozephalie - Cutis Marmorata Telangiectatica Congenita Megalencefalia - cutis marmorata telangectasica congenita Megalencefalia - cutis marmorata telangiectásica congénita Megalencefalia - cutis marmorata telangiectásica congénita Megalencephaly - cutis marmorata telangiectatica congenita Megalenzephalie - Cutis Marmorata Telangiectatica Congenita Mégalencéphalie - cutis marmorata telangiectatica congenita Macrocefalia - cutis marmorata telangiectásica congénita Macrocefalia - malformación capilar Macrocefalia - malformazione capillare Macrocephaly-capillary malformation syndrome Makrozephalie - kapilläre Fehlbildung Syndrome macrocéphalie-malformation capillaire hrdo:pat_id_10806 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 234700 C535758 10019263 neant Q24.6 60041 46619002 C0149530 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Atrioventrikulärer Block, kongenitaler Bloc auriculoventriculaire congénital Blocco atrioventricolare congenito Bloqueio auriculo-ventricular congénito Bloqueo atrioventricular congénito Bloqueo auriculoventricular congénito Congenital atrioventricular block Bloc cardiaque congénital Blocco cardiaco congenito Bloqueio cardíaco congénito Bloqueo cardíaco congénito Congenital heart block Herzblock, kongenitaler hrdo:pat_id_1081 C537824 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=((Chromosome+8%5Bmh%5D+ring+chromosomes%5Bmh%5D)+OR+ring+chromosome+8%5Btw%5D)+NOT+(Translocation%5Bmh%5D+OR+trisomy) Q93.2 1450 C2931633 malformation syndrome Anel do cromossoma 8 Chromosome 8 en anneau Cromosoma 8 ad anello Cromosoma 8 en anillo Cromossoma 8 em anel Ring chromosome 8 Ringchromosom 8 hrdo:pat_id_10816 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 10022034 neant Q00.2 63259 2438005 C0152234 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Iniencefalia Iniencefalia Iniencefalia Iniencephaly Iniencéphalie Inienzephalie hrdo:pat_id_10817 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 10011321 neant Q00.1 63260 32219008 C0152426 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Craneoraquisquisis Craniorachischisi Craniorachischisis Craniorachischisis Cranioraquisquisis Kraniorhachischisis hrdo:pat_id_10818 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis 192315 neant I67.3 63261 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Endoteliopatia ereditaria - retinopatia - nefropatia - infarto Endoteliopatia hereditária - retinopatia - nefropatia - AVC Endothéliopathie héréditaire - rétinopathie - néphropathie - crises Hereditary endotheliopathy - retinopathy - nephropathy - stroke Hereditäre Endotheliopathie - Retinopathie - Neuropathie -Stroke HERNS syndrome HERNS syndrome HERNS-Syndrom Sindrome HERNS Síndrome HERNS Síndrome HERNS hrdo:pat_id_10819 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 201750 neant Q87.0 63269 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Antley-Bixler syndrome type 2 Antley-Bixler syndrome, POR-related Antley-Bixler-Syndrom Typ 2 Antley-Bixler-Syndrom, POR-abhängiges Antley-Bixler-like syndrome - ambiguous genitalia - disordered steroidogenesis Sindrome Antley-Bixler-simile - genitali ambigui - difetto della steroidogenesi Sindrome di Antley-Bixler legata a POR Sindrome di Antley-Bixler, tipo 2 Syndrome d'Antley-Bixler lié à POR Syndrome d'Antley-Bixler type 2 Syndrome de pseudo-Antley-Bixler - ambiguïté génitale - troubles de la stéroïdogenèse Síndrome de Antley-Bixler tipo 2 Síndrome de Antley-Bixler, relacionado con POR Síndrome tipo Antley-Bixler - genitales ambiguos - esteroidogénesis alterada Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis Antley-Bixler ähnliches-Syndrom - intersexuelles Genitale - Steroidstoffwechselstörungen Sindrome di Antley-Bixler con anomalia genitale e difetto della steroidogenesi Syndrome d'Antley-Bixler avec anomalie génitale et trouble de la stéroïdogenèse Síndrome de Antley-Bixler - ambiguidade genital - anomalias da esteroidogénese Síndrome de Antley-Bixler con anomalías genitales y alteración de la esteroidogénesis hrdo:pat_id_1082 Variabel Variabile Variable Variable Variable Variable Variável 176450 600145 C536221 neant Q42 1552 413936007 C1531773 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Currarino syndrome Currarino-Syndrom Sindrome di Currarino Syndrome de Currarino Currarino triad Currarino-Triade Triade de Currarino Triade di Currarino Tríada de Currarino Tríade de Currarino hrdo:pat_id_10820 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 614065 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=myopathy+posterior+leg+anterior+upper+extremity+limb+Williams G71.0 63273 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ABD-filaminopatia distale Distal ABD-filaminopathy Distale ABD-Filaminopathie Filaminopathie ABD distale Filaminopatía ABD distal Distal Myopathie mit hinterer Bein- und vorderer Handbeteiligung Distal myopathy with posterior leg and anterior hand involvement Miopatia distal com envolvimento da porção posterior do membro inferior e da porção anterior do membro superior Miopatia distale con coinvolgimento posteriore della gamba ed anteriore della mano Miopatía distal con afectación de los músculos posteriores de la pierna y de los músculos anteriores de la mano Myopathie distale avec atteinte des muscles postérieurs des jambes et des muscles antérieurs des mains hrdo:pat_id_10821 D006559 10019939 neant L12.8 63275 86081009 C0019343 disease Pemfigo gravidico Pemphigoid gestationis Pemphigoid gestationis Pemphigoïde gestationis Penfigoide gestacional Pênfigo gestacional hrdo:pat_id_10822 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 123100 neant Q75.0 63440 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Nonsyndromic oxycephaly Oxicefalia no sindrómica Oxicefalia non sindromica Oxycéphalie non syndromique Oxyzephalus, nicht-syndromaler Turricefalia Turricefalia Turricephaly Turricéphalie Isolated oxycephaly Oxicefalia Oxicefalia aislada Oxicefalia isolata Oxycéphalie isolée Oxyzephalie, isolierte hrdo:pat_id_10823 Variabel Variabile Variable Variable Variable Variable Variável 105835 10066017 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Angel+shaped+dysplasia Q78.8 63442 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ASPED ASPED ASPED ASPED (Angel-shaped phalango-epiphyseal dysplasia) Angel-shaped phalango-epiphyseal dysplasia Displasia ad ''ali d'angelo'' delle epifisi falangeali Displasia epifisiaria-falángica en foma de ángel Dysplasie phalango-épiphysaire en "ailes d'anges" Dysplasie, engelförmige phalango-epiphysäre Falanges em forma de anjo - displasia epifisária hrdo:pat_id_10824 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 613659 10017758 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Gastric+cancer%5Bti%5D+OR+stomach+cancer%5Bti%5D+OR+stomach+neoplasms%5Bmajr%5D C16 63443 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Cancer de l'estomac Cancro dello stomaco Cancro do estómago Cancro do estômago Cáncer de estómago Stomach cancer Cancer gastrique Cancro gastrico Cancro gástrico Cáncer gástrico Gastric cancer Magenkrebs hrdo:pat_id_10825 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 607778 neant Q78.8 63446 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acrocapitofemoral dysplasia Displasia acro-capito-femorale Displasia acrocapitofemoral Displasia acrocapitofemoral Dysplasie acro-capito-fémorale Dysplasie, akro-capito-femorale hrdo:pat_id_10826 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant H35.5 63454 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Pattern dystrophie Displasia en estampado del epitelio pigmentario de la retina Distrofia dell'epitelio pigmentato della retina Distrofia em padrão do epitélio pigmentar da retina Dystrophie tachetée du pôle postérieur Musterdystrophien des retinalen Pigmentepithels Patterned dystrophy of the retinal pigment epithelium hrdo:pat_id_10827 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 10057056 neant L10.8 63455 C1112570 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Paraneoplastic pemphigus Pemfigo paraneoplastico Pemphigus paranéoplasique Pemphigus, paraneoplastischer Penfigoide paraneoplásico Pênfigo paraneoplásico hrdo:pat_id_10829 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance C536633 neant Q87.8 63862 C2931271 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Asociación esquisis Associazione tra schisi Esquisis, associação Schisis association Schisis association Schisis-Assoziation hrdo:pat_id_10831 C536136 10027074 neant J98.5 63999 21247003 361196000 7377003 C0221386 C0264573 disease Fibrosing mediastinitis Mediastinite esclerosante Mediastinite fibrosante Mediastinite fibrosante Mediastinite sclerosante Mediastinitis esclerosante Mediastinitis fibrosante Mediastinitis, fibrosierende Mediastinitis, sklerosierende Médiastinite fibreuse Médiastinite sclérosante Sclerosing mediastinitis Fibrose mediastínica Fibrose médiastinale Fibrosi mediastinica Fibrosis de mediastino Mediastinal fibrosis Mediastinalfibrose hrdo:pat_id_10832 600131 607681 611942 612269 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=epilepsy%2C+absence%5Bmajr%5D+AND+child%5Bmh%5D+NOT+juvenile%5Btw%5D 64280 50866000 disease Epilepsie-absence infantile Picnolepsia Pycnolepsie Pyknolepsy Absencen-Epilepsie des Kindesalters Childhood absence epilepsy Epilepsia de ausencias infantiles Epilepsia de ausências infantil Epilepsie-absence de l'enfance Epilessia con assenze dell'infanzia hrdo:pat_id_10833 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Kennedy+AND+Teebi+AND+acrofacial+AND+dysostoses&dispmax=10&doptcmdl=abstract Q75.4 64542 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acrofacial dysostosis, Kennedy-Teebi type Disostose acrofacial tipo Kennedy-Teebi Disostosi acrofacciale, tipo Kennedy-Teebi Disostosis acrofacial tipo Kennedy-Teebi Dysostose acro-faciale de Kennedy-Teebi Dysostose, akrofaziale, Typ Kennedy-Teebi Kennedy-Teebi syndrome Kennedy-Teebi, síndrome de Kennedy-Teebi-Syndrom Sindrome di Kennedy-Teebi Syndrome de Kennedy-Teebi Síndrome de Kennedy-Teebi Síndrome de Kennedy-Teebi Autosomal recessive acrofacial dysostosis Disostose acrofacial autossómica recessiva Disostosi acrofacciale, autosomica recessiva Disostosis acrofacial autosómica recesiva Dysostose acrofaciale autosomique récessive Dysostose, akrofaziale, autosomal-rezessive hrdo:pat_id_10834 neant G40.4 64545 disease Benign idiopathic neonatal seizures Convulsiones neonatales idiopáticas benignas Convulsioni idiopatiche neonatali benigne Convulsions néonatales bénignes idiopathiques Epilepsia neonatal benigna idiopática Neugeborenenkrämpfe, benigne idiopathische hrdo:pat_id_10835 C531833 D020333 10051526 neant H49.3 64686 75111000 95794005 C0040381 C0392060 disease Oftalmoplegia dolorosa Oftalmoplegia dolorosa Oftalmoplejía dolorosa Ophtalmoplégie douloureuse Ophthalmoplegie, schmerzhafte Painful ophthalmoplegia Sindrome di Tolosa-Hunt Syndrome de Tolosa-Hunt Síndrome de Tolosa-Hunt Síndrome de Tolosa-Hunt Tolosa-Hunt syndrome Tolosa-Hunt-Syndrom hrdo:pat_id_10836 D001474 neant A44.0 64692 186825001 240453002 262461007 C0029307 C0348974 disease Bartonellose durch Infektion mit Bartonella bacilliformis Bartonellose à Bartonella bacilliformis Bartonellosi da infezione da Bartonella bacilliformis Bartonellosis causada por una infección de Bartonella bacilliformis Bartonellosis due to Bartonella bacilliformis infection Bartonelose por infecção por Bartonella bacilliformis Bartonelose por infeção por Bartonella bacilliformis Bartonelosis debida a infección por Bartonella bacilliformis Carrion disease Carrion'sche Krankheit Carrion, doneça de Doença de Carrion Enfermedad de Carrion Enfermedad de Carrión Maladie de Carrion Malattia di Carrion Febbre di Oroya Febre de Oroya Fiebre de Oroya Fièvre d'Oroya Oroya fever Oroyafieber hrdo:pat_id_10837 D014205 10044582 neant A79.0 64694 82214002 C0040830 disease Bartonellose à Bartonella quintana Bartonellosi da infezione da Bartonella quintana Bartonellosis causada por una infección de Bartonella quintana Bartonellosis due to Bartonella quintana infection Bartonelose por infecção por Bartonella quitana Bartonelose por infeção por Bartonella quitana Bartonelosis debida a infección por Bartonella quintana Schützengrabenfieber Febbre dei fossi Febre de Trench Fiebre de de las trincheras Fièvre des tranchées Fünf-Tage-Fieber Trench fever hrdo:pat_id_10838 D007890 10024189 64720 443719001 51549004 C0023269 disease Leiomiosarcoma Leiomiosarcoma Leiomiosarcoma Leiomyosarcoma Leiomyosarkom Léiomyosarcome hrdo:pat_id_10839 D058890 neant N60.8 64722 237444008 C0405469 disease Granulomatöse Mastitis, idiopathische Idiopathic granulomatous mastitis Mastite granulomateuse idiopathique Mastite granulomatosa idiopatica Mastite granulomatosa idiopática Mastitis granulomatosa idiopática Granulomatous mastitis Granulomatöse Mastitis Mastite granulomateuse Mastite granulomatosa Mastite granulomatosa Mastitis granulomatosa hrdo:pat_id_10841 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D057129 10053678 neant H21.1 64734 129623003 231936006 C0339285 C1096100 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown ICE syndrome ICE, síndrome ICE-Syndrom Sindrome ICE Syndrome ICE Síndrome ICE Síndrome ICE Iridocorneal endothelial syndrome Iridokorneale endotheliale Dystrophie Sindrome endoteliale iridocorneale Syndrome irido-cornéo-endothélial Síndrome endotelial irido-corneano Síndrome endotelial iridocorneal hrdo:pat_id_10842 134400 188050 188055 neant D68.5 D68.6 64738 group of phenomes Factor V Leiden, mutação fator V Leiden, mutação Nicht seltene Form der Thrombophilie Non rare thrombophilia Resistência à proteína C activada Thrombophilie non rare Trombofilia no rara Trombofilia non rara hrdo:pat_id_10843 608115 D016471 10033266 neant N98.1 64739 129635004 C0085083 disease OHSS OHSS OHSS SHO SHO Ovarian hyperstimulation syndrome Ovarielles Überstimulationssyndrom Sindrome da iperstimolazione ovarica Syndrome d'hyperstimulation ovarienne Síndrome de hiperestimulación ovárica Síndrome hiperestimulação ovárica hrdo:pat_id_10844 neant K85 64740 197458008 C0267937 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Pancreatite acuta ricorrente Pancreatite aguda recorrente Pancreatitis aguda recurrente Pancréatite aiguë récurrente Pankreatitis, akute rezidivierende Recurrent acute pancreatitis hrdo:pat_id_10845 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant C34 64741 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Blastoma polmonare Blastoma pulmonar Pneumoblastoma Pneumoblastoma Pneumoblastome Pulmonales Blastom Blastoma pulmonar Blastome pulmonaire Pneumoblastom Pneumoblastoma Pneumoblastoma Pulmonary blastoma hrdo:pat_id_10846 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601200 neant C34 64742 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Blastoma pleuro-polmonare Blastoma pleuro-pulmonar Blastome pleuro-pulmonaire Pleuro-pulmonary blastoma Blastoma pleuro-pulmonar Blastoma pleuropolmonare Blastoma pleuropulmonar Blastome pleuropulmonaire Pleuro-pulmonales Blastom Pleuropulmonary blastoma hrdo:pat_id_10847 Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=%22Hepatoportal+sclerosis%22 64743 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Fibrose portal não-cirrótica Hiperplasia regenerativa nodular Hipertensão portal idiopática Obliterative portal venopathy Veinopathie portale oblitérative Venopathie, obliterative portale Venopatia portal obliterante Venopatía obstructiva portal Venopatía portal obliterante Esclerose hepato-portal Esclerosis hepatoportal Hepatoportal sclerosis Hepatoportale Sklerose Sclerosi epatoportale Sclérose hépato-portale hrdo:pat_id_10848 10039142 neant E06.5 64744 89024000 C0154162 disease Riedel thyroiditis Riedel-Thyreoiditis Thyroïdite de Riedel Tiroidite de Riedel Tiroidite di Riedel Tiroiditis de Riedel hrdo:pat_id_10849 178995 C535817 10066100 neant O26.8 64745 88697005 C0269680 disease Erupción polimórfica del embarazo Eruption polymorphe de la grossesse Erupção polimórfica da gravidez Eruzione polimorfa della gravidanza PUPPP PUPPP Polymorphic eruption of pregnancy Papule e placche orticarioidi pruriginose della gravidanza Plaques et papules prurigineuses urticariennes de la grossesse Pruritic urticarial papules and plaques of pregnancy Pápulas e placas pruriginosa urticárias da gravidez Pápulas urticariales pruriginosas y placas de embarazo Schwangerschaftsdermatose, polymorphe hrdo:pat_id_1085 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 601362 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(((chromosome+10+(chromosome+deletion+OR+monosomy%5Bmh%5D))+OR+deletion%5Bti%5D+OR+monosom*%5Bti%5D+OR+loss%5Bti%5D)+(10p%5Bti%5D+OR+10pter%5Bti%5D)) Q93.5 1580 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deleción distal 10p Delezione 10p distale Delezione 10p telomerica Distal 10p deletion Distale Deletion 10p Délétion distale 10p Délétion télomérique 10p Monosomia 10pter Monosomie 10pter Monosomy 10pter Monossomia 10pter Telomeric deletion 10p Deleção 10pter Distal monosomy 10p Monosomia 10p distale Monosomie 10p, distale Monosomie distale 10p Monosomía distal 10p hrdo:pat_id_10850 Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=charcot+marie+tooth+disease+%28cmt2*%5Bti%5D+OR+cmt+2*%5Bti%5D+OR+type+2*%5Bti%5D+OR+axonal%5Bti%5D%29 G60.0 64746 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Autosomal dominant axonal Charcot-Marie-Tooth disease CMT2 CMT2 CMT2 CMT2 Charcot-Marie-Tooth axonal, doença de Charcot-Marie-Tooth-Krankheit, axonale, autosomal-dominante Formen Doença de Charcot-Marie-Tooth axonal Enfermedad de Charcot-Marie-Tooth, axonal, autosómica dominante HMSN2 Hereditarymotor and sensoryneuropathy type 2 Maladie de Charcot-Marie-Tooth axonale autosomique dominante Malattia assonale di Charcot-Marie-Tooth, autosomica dominante Neuropathie sensitivo-motrice héréditaire type 2 Neuropathie, hereditäre motorisch-sensorische, Typ 2 Neuropatia sensitivo-motoria ereditaria, tipo 2 Autosomal dominant Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth tipo 2 Charcot-Marie-Tooth-Krankheit Typ 2, autosomal-dominante Enfermedad de Charcot-Marie-Tooth, tipo 2, autosómica dominante Maladie de Charcot-Marie-Tooth autosomique dominante type 2 Malattia di Charcot-Marie-Tooth, tipo 2, autosomica dominante hrdo:pat_id_10851 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28charcot+marie+tooth+disease[majr]+OR+charcot+marie+tooth+disease[ti]%29+%28X+linked%5Bti%5D+OR+cmtx*%5Bti%5D+OR+Genetic+Diseases%2C+X-Linked%29 G60.0 64747 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-dominant X-chromosomal-rezessiv X-linked dominant X-linked dominant X-linked recessive X-linked recessive group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 CMTX CMTX CMTX CMTX CMTX Charcot-Marie-Tooth ligada ao X Charcot-Marie-Tooth-Krankheit, X-chromosomale Enfermedad de Charcot-Marie-Tooth ligada al X Maladie de Charcot-Marie-Tooth liée à l'X Malattia di Charcot-Marie-Tooth legata all'X X-linked Charcot-Marie-Tooth disease hrdo:pat_id_10852 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 145900 C538392 neant G60.0 64748 111499002 C0011195 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Charcot-Marie-Tooth disease type 3 Charcot-Marie-Tooth-Krankheit Typ 3 Enfermedad de Charcot-Marie-Tooth tipo 3 HMSN 3 HMSN 3 HMSN3 Hereditary motor and sensory neuropathy type 3 Hypertrophic neuropathy of infancy Maladie de Charcot-Marie-Tooth type 3 Malattia di Charcot-Marie-Tooth, tipo 3 NSMH 3 Neuropathie hypertrophique de l'enfant Neuropathie sensitivo-motrice héréditaire type 3 Neuropathie, hereditäre motorisch-sensorische, Typ 3 Neuropathie, hypertrophe, der Kindheit Neuropatia hipertrófica da infância Neuropatia motora e sensitiva hereditária tipo 3 (HMSN 3) Neuropatía hipertrófica de la infancia Neuropatía motora y sensorial hereditaria de tipo 3 Neuropatía sensitivo-motora hereditaria tipo 3 Dejerine-Sottas syndrome Dejerine-Sottas-Syndrom Sindrome di Dejerine-Sottas Syndrome de Dejerine-Sottas Síndrome de Dejerine-Sottas Síndrome de Dejerine-Sottas hrdo:pat_id_10853 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=charcot+marie+tooth+disease+%28%28cmt4*%5Bti%5D+OR+cmt+4*%5Bti%5D+OR+type+4*%5Bti%5D%29+OR+%28demyelin*+recessive%5Bti%5D%29%29 G60.0 64749 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 AR-CMT1 AR-CMT1 AR-CMT1 AR-CMT1 Autosomal recessive demyelinating Charcot-Marie-Tooth CMT4 CMT4 CMT4 CMT4 CMT4 Charcot-Marie-Tooth, demyeliniserend, autosomal-rezessiv Maladie de Charcot-Marie-Tooth démyélinisante autosomique récessive Malattia di Charcot-Marie-Tooth demielinizzante, autosomica recessiva Charcot-Marie-Tooth disease type 4 Charcot-Marie-Tooth-Krankheit Typ 4 Doença de Charcot-Marie-Tooth tipo 4 Enfermedad de Charcot-Marie-Tooth tipo 4 Maladie de Charcot-Marie-Tooth type 4 Malattia di Charcot-Marie-Tooth, tipo 4 hrdo:pat_id_10855 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 600361 neant G60.0 64751 disease Charcot-Marie-Tooth disease - pyramidal features Charcot-Marie-Tooth, doença de - sinais piramidais Charcot-Marie-Tooth-Krankheit - pyramidale Störungen Doença de Charcot-Marie-Tooth - sinais piramidais Enfermedad de Charcot-Marie-Tooth - signos piramidales HMSN 5 HMSN 5 HMSN 5 HMSN 5 Maladie de Charcot-Marie-Tooth - signes pyramidaux Malattia di Charcot-Marie-Tooth - segni piramidali NHSM 5 NSMH 5 Hereditary motor and sensory neuropathy type 5 Neuropathie sensitivo-motrice héréditaire type 5 Neuropathie, hereditäre motorisch-sensorische, Typ 5 Neuropatia motora e sensitiva hereditária tipo 5 Neuropatia sensitivo-motoria ereditaria, tipo 5 Neuropatía sensitivo-motora hereditaria de tipo 5 hrdo:pat_id_10856 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 608654 D000699 neant G60.8 64752 128206006 403605007 C0002768 C0020075 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Congenital insensitivity to pain and thermal analgesia HSAN 5 HSAN 5 HSAN 5 HSAN 5 HSAN 5 HSAN 5 Insensibilidad congénita al dolor y analgesia térmica Insensibilidade congénita à dor Insensibilità congenita al dolore e analgesia termica Insensibilité congénitale à la douleur et analgésie thermique Kongenitale Analgesie - Thermanästhesie NSAH 5 Hereditary sensory and autonomic neuropathy type 5 Neuropathie sensitive et autonomique familiale type 5 Neuropathie, autonome hereditäre sensorische, Typ 5 Neuropatia autonoma e sensoriale ereditaria, tipo 5 Neuropatia sensitiva e autonómica hereditária tipo 5 Neuropatía sensitiva y autonómica hereditaria de tipo 5 hrdo:pat_id_10857 606002 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=((ataxia+oculomotor+apraxia)+OR+(Spinocerebellar+ataxia+axonal))+(%22type+2%22+OR+%22type+ii%22+OR+scan2)+OR+AOA2 G60.2 64753 disease AOA2 AOA2 AOA2 Atassia - aprassia oculomotoria, tipo 2 (AOA2) Ataxia - apraxia oculo-motora tipo 2 (AOA2) Ataxia - apraxia oculomotora tipo 2 Ataxia - oculomotor apraxia type 2 Ataxie - apraxie oculo-motrice type 2 Ataxie - okulomotorische Apraxie, Typ 2 SCAN 2 SCAN 2 SCAN 2 SCAR1 SCAR1 SCAR1 SCAR1 Atassia spinocerebellare associata a neuropatia assonale, tipo 2 Ataxia espinocerebelosa com neuropatia axonal, tipo 2 Ataxia espinocerebelosa con neuropatía axonal, tipo 2 Ataxie spinocérébelleuse - neuropathie axonale type 2 Ataxie, spinozerebelläre mit axonaler Neuropathie Typ 2 Spinocerebellar ataxia with axonal neuropathy type 2 hrdo:pat_id_10858 neant Q82.5 64754 35962006 C0265987 disease Naevus comedonicus-Syndrom Nevus comedonicus syndrome Sindrome del neo comedonico Syndrome du nevus comédonien Síndrome del nevus comedonicus Síndrome nevus comedonicus hrdo:pat_id_10859 604919 neant D22.5 64755 disease Naevus, epidermaler behaarter pigmentierter Nevo epidermico pigmentato peloso Nevus epidérmico pigmentado y piloso Nevus épidermique pigmenté pileux Pigmentary hairy epidermal nevus Becker Naevus-Syndrom Becker nevus syndrome Nevo de Becker Sindrome del nevo di Becker Syndrome du nevus de Becker Síndrome del nevus de Becker hrdo:pat_id_1086 neant Q93.5 1581 malformation syndrome Delezione 10q non distale Délétion non distale 10q Monosomia 10q non telomerica Monosomie 10q Monosomie non télomérique 10q Monosomía 10q Monossomia 10q Non-distal 10q deletion Non-telomeric monosomy 10q Deleción 10q Deletion 10q Deleção 10q Monosomia 10q non distale Monosomie non distale 10q Non-distal monosomy 10q hrdo:pat_id_10862 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant G54.8 65250 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Cisti di Tarlov Kyste de Tarlov Quiste de Tarlov Quisto de Tarlov Tarlov cyst Tarlov-Zyste Cisti perineurale Kyste péri-radiculaire Perineural cyst Perineuralzyste Quiste perineural Qusito perineural hrdo:pat_id_10863 D046730 10025268 neant K52.8 65279 31437008 C0400822 clinical subtype Colite linfocitica Colite linfocítica Colite lymphocytaire Colitis linfocítica Kolitis, lymphozytäre Lymphocytic colitis hrdo:pat_id_10864 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 605676 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Woolly+hair+keratoderma+palmoplantar+cardiomyopathy+dilated 65282 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Capelli lanosi - cheratoderma palmoplantare - cardiomiopatia dilatativa Carvajal syndrome Carvajal, síndrome de Carvajal-Syndrom Pelo lanoso - queratodermia palmoplantar - miocardiopatía dilatada Sindrome capelli lanosi-ipercheratosi palmoplantare-cardiomiopatia dilatativa Sindrome di Carvajal Syndrome de Carvajal Syndrome de cheveux laineux-hyperkératose palmoplantaire-cardiomyopathie dilatée Síndrome de Carvajal Síndrome de Carvajal Síndrome de pelo lanoso - hiperqueratosis palmoplantar - miocardiopatía dilatada Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome Wooly hair - palmoplantar keratoderma - dilated cardiomyopathy Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome Cabelo lanoso - queratodermia palmo-plantar - miocardiopatia dilatada Sindrome capelli lanosi-cheratoderma palmoplantare-cardiomiopatia dilatativa Syndrome de cheveux laineux-kératodermie palmoplantaire-cardiomyopathie dilatée Síndrome de pelo lanoso - queratodermia palmoplantar - miocardiopatía dilatada Wollhaare - palmoplantare Hyperkeratose - dilatative Kardiomyopathie Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome hrdo:pat_id_10865 601005 C536962 neant I45.8 65283 C1832916 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 LQT8 LQT8 LQT8 LQT8 LQT8 Long QT syndrome - syndactyly Long QT syndrome type 8 Long-QT-Syndrom - Syndaktylie Long-QT-Syndrom Typ 8 QT longo, síndrome - sindactilia Sindrome del QT lungo - sindattilia Sindrome del QT lungo, tipo 8 Syndrome du QT long - syndactylie Syndrome du QT long type 8 Síndrome QT longo - sindactilia Síndrome de QT largo - sindactilia Síndrome de QT largo tipo 8 Sindrome di Timothy Syndrome de Timothy Síndrome de Timothy Síndrome de Timothy Timothy syndrome Timothy-Syndrom hrdo:pat_id_10866 607483 C537658 65284 C1843807 disease Biotin-responsive Störung der Basalganglien Biotin-responsive basal ganglia disease Doença dos gânglios basais sensível à biotina Enfermedad de los ganglios basales con respuesta a la biotina Maladie des ganglions de la base sensible à la biotine Malattia dei gangli basali sensibile alla biotina hrdo:pat_id_10867 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 158350 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Lhermitte-Duclos+disease%5Btitle/abstract%5D+OR+%28Dysplastic+gangliocytoma+cerebellum%29 Q04.8 65285 128791005 67944007 C0391826 C1266181 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 DLD Dysplastic gangliocytoma of the cerebellum ELD Ganglicitoma displásico do cerebelo Gangliocitoma displastico del cervelletto Gangliocitoma displásico cerebeloso Gangliocytome dysplasique du cervelet Kleinhirnhypertrophie, diffuse LDD LDD LDD Doença de Lhermitte-Duclos Enfermedad de Lhermitte-Duclos Lhermitte-Duclos disease Lhermitte-Duclos-Krankheit Maladie de Lhermitte-Duclos Malattia di Lhermitte-Duclos hrdo:pat_id_10868 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 609425 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(deletion+3q*%5Btw%5D)+OR+(monosomy+3q*%5Btw%5D)+OR+(3q29%5Bti%5D+microdeletion%5Bti%5D) Q93.5 65286 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown 3q Subtelomeres Deletionssyndrom 3q subtelomere deletion syndrome 3qter deletion Del(3)(q29) Del(3)(q29) Del(3)(q29) Del(3)(q29) Del(3)(q29) Deleción 3qter Deletion 3qter Delezione 3qter Délétion 3q29 Délétion 3qter Monosomia 3q29 Monosomia 3qter Monosomie 3q29 Monosomie 3q29 Monosomie 3qter Monosomie3qter Monosomy 3q29 Monosomy 3qter Monosomía 3q29 Monosomía 3qter Sindrome da delezione 3q subtelomerica Syndrome de délétion subtélomérique 3q Síndrome de deleción subtelomérica 3q 3q29 microdeletion syndrome Microdeleção 3q29 Mikrodeletionssyndrom 3q29 Sindrome da microdelezione 3q29 Syndrome de microdélétion 3q29 Síndrome de microdeleción 3q29 hrdo:pat_id_10869 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613161 neant E79.8 65287 124511000 C1291512 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Beta-Alanin-Synthase-Mangel Beta-alanina sintase, deficiência de Beta-alanine synthase deficiency Deficiencia de beta-alanina sintasa Deficit di beta-alanina sintasi Deficiência de beta-alanina sintase Déficit de beta-alanina sintetasa Déficit en bêta-alanine synthase Beta-Ureidopropionase-Mangel Beta-ureidopropionase deficiency Deficit di beta-ureidopropionasi Deficiência de beta-ureidopropionase Déficit de beta-ureidopropionasa Déficit en bêta-uréidopropionase hrdo:pat_id_10870 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 609069 65288 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Agenesia pancreatica e cerebellare Agenesia pancreática y cerebelosa Agénésie du cervelet et du pancréas Diabetes mellitus neonatal permanente - agenesia pancreática e cerebelosa Pancreatic and cerebellar agenesis Pankreas- und Kleinhirnagenesie Agenesia pancreática e cerebelosa Diabete mellito neonatale permanente - agenesia pancreatica e cerebellare Diabetes mellitus, neonatal permanente - agenesia pancreática y cerebelosa Diabetes mellitus, permanenter neonataler - Pankreas- und Kleinhirnagenesie Diabète sucré néonatal permanent - agénésie du cervelet et du pancréas Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis hrdo:pat_id_10871 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 10046879 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=vaginal+atresia%5Bti%5D+OR+(vaginal+atresia%5Btw%5D+vagina%2Fab) Q52.0 65681 87380008 C1321884 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Atresia da vagina Atresia vaginal Atresia vaginale Atrésie vaginale Vaginal atresia Vaginalatresie hrdo:pat_id_10872 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 243300 605479 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Benign+recurrent+intrahepatic+cholestasis K83.1 65682 31155007 C0149841 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown BRIC BRIC BRIC CIBR CIRB CIRB Sindrome di Summerskill-Walshe-Tygstrup Summerskill-Walshe-Tygstrup Syndrom Summerskill-Walshe-Tygstrup syndrome Summerskill-Walshe-Tygstrup, síndrome de Syndrome de Summerskill-Walshe-Tygstrup Síndrome de Summerskill-Walshe-Tygstrup Síndrome de Summerskill-Walshe-Tygstrup Benign recurrent intrahepatic cholestasis Cholestase intrahépatique récurrente bénigne Cholestase, benigne intrahepatische, rekurrente Colestase intra-hepática recorrente benigna Colestasi intraepatica ricorrente benigna Colestasis intrahepática recurrente benigna hrdo:pat_id_10873 607341 neant Q04.8 65683 disease Cortical dysplasia, Taylor type Displasia cortical de Taylor Displasia corticale, tipo Taylor Dysplasie corticale de Taylor Dysplasie, kortikale, Typ Taylor Epilepsia causada por DCF Epilepsia por DCF Epilepsie due à FCD Epilepsie durch FCD Epilepsy due to FCD Epilessia da FCD Displasia cortical focal Displasia cortical focal aislada Displasia corticale focale isolata Dysplasie corticale focale isolée Isolated focal cortical dysplasia Kortikale Dysplasie, isolierte fokale hrdo:pat_id_10874 Normal Normal Normal Normal Normal Normal Normale Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 602440 C538253 10069681 neant G12.8 65684 C1865384 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Amiotrofia focal benigna Amiotrofia focal benigna Amiotrofia focale benigna Amyotrophie focale bénigne Amyotrophie, benigne fokale Atrofia muscolare dell'arto superiore distale giovanile Atrofia muscular distal do membro superior, juvenil Atrofia muscular juvenil de las extremidades superiores distales Atrofia muscular juvenil de los miembros superiores distales Atrophie musculaire distale juvénile des extrémités supérieures Atrophie musculaire distale juvénile du membre supérieur Benign focal amyotrophy Doença de Hirayama Enfermedad de Hirayama Hirayama disease Hirayama, doença de Hirayama-Krankheit JMADUE JMADUE JMADUE Juvenile muscular atrophy of distal upper extremity Juvenile muscular atrophy of the distal upper limb Maladie de Hirayama Malattia di Hirayama Amiotrofia monomelica Amiotrofia monomélica Amyotrophie monomélique Amyotrophie, monomelische Atrofia monomélica Monomelic amyotrophy hrdo:pat_id_10875 609128 65720 malformation syndrome Arthrogrypose - schwere Skoliose Arthrogrypose distale type 4 Arthrogrypose distale type IID Arthrogrypose, distale, Typ 2D Arthrogrypose, distale, Typ 4 Arthrogrypose, distale, Typ IID Artrogripose distal tipo 4 Artrogripose distal tipo IID Artrogriposi distale, tipo 4 Artrogriposi distale, tipo IID Artrogriposis distal tipo 4 Artrogriposis distal tipo IID Distal arthrogryposis type 4 Distal arthrogryposis type IID Arthrogrypose - schwere Skoliose Arthrogrypose - scoliose sévère Arthrogryposis - severe scoliosis Artrogripose - escoliose grave Artrogriposi - scoliosi grave Artrogriposis - escoliosis grave hrdo:pat_id_10876 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 178110 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=multiple+pterygi*%5Btw%5D+dominant Q79.8 65743 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Arthrogrypose distale type 8 Arthrogrypose, distale, Typ 8 Artrogripose distal tipo 8 Artrogriposi distale, tipo 8 Distal arthrogryposis type 8 Autosomal dominant multiple pterygium syndrome Multiples Pterygium-Syndrom, autosomal-dominantes Sindrome degli pterigi multipli, autosomica dominante Syndrome des pterygiums multiples autosomique dominant Síndrome de pterigión múltiple autosómico dominante Síndrome pterígios múltiplos autossómico dominante hrdo:pat_id_10877 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 132800 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28keratoacanthoma*%5Bti%5D+OR+keratoacanthoma%5Bmh%5D%29+%28ferguson+smith%5Btw%5D%29+OR+%28self+healing%5Bti%5D+squamous%5Bti%5D+epithelioma%29 D23 65748 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown ESS1 ESS1 ESS1 ESS1 ESS1 Epitelioma escamoso auto-remitente 1 Epitelioma escamoso autocurativo 1 Epitelioma escamoso múltiple autocurativo Epitelioma multiplo squamoso a guarigione spontanea (MSSE) Epitelioma squamoso a guarigione spontanea, tipo 1 Epiteliomas escamosos múltiplos auto-remitentes (MSSE) Epitheliome, selbstheilende squamöse, 1 Epithéliome squameux multiple spontanément curable MSSE Multiple selbstheilende squamöse Epitheliome (MSSE) Multiple self-healing squamous epithelioma Self-healing squamous epithelioma type 1 Cheratoacantoma multiplo, tipo Ferguson-Smith Keratoakanthome, multiple, Typ Ferguson-Smith Kératoacanthome multiple de Ferguson-Smith Multiple keratoacanthoma, Ferguson-Smith type Queratoacantoma múltiple de tipo Ferguson-Smith Queratoacantoma múltiplo tipo Ferguson-Smith hrdo:pat_id_10878 Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=charcot+marie+tooth+disease+%28cmt1*%5Bti%5D+OR+cmt+1*%5Bti%5D+OR+type+1*%5Bti%5D+OR+demyelinating%5Bti%5D%29+NOT+%28recessive+OR+x+linked%5Btw%5D%29 G60.0 65753 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Autosomal dominant demyelinating Charcot-Marie-Tooth disease CMT1 CMT1 CMT1 CMT1 Charcot-Marie-Tooth desmilinizante, doença de Charcot-Marie-Tooth-Krankheit, demyeliniserende, autosomal-dominante Formen Doença de Charcot-Marie-Tooth desmilinizante Enfermedad de Charcot-Marie-Tooth, desmielinizante, autosómica recesiva Hereditary motor and sensory neuropathy type 1 Maladie de Charcot-Marie-Tooth démyélinisante autosomique dominante Neuropathie sensitivo-motrice héréditaire type 1 Neuropathie, hereditäre motorisch-sensorische, Typ 1 Neuropatia sensitivo-motoria ereditaria, tipo 1 Charcot-Marie-Tooth disease type 1 Charcot-Marie-Tooth-Krankheit Typ 1 Doença de Charcot-Marie-Tooth tipo 1 Enfermedad de Charcot-Marie-Tooth tipo 1 Maladie de Charcot-Marie-Tooth type 1 Malattia di Charcot-Marie-Tooth, tipo 1 hrdo:pat_id_10879 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 201000 614976 neant Q87.0 65759 205813009 403767009 C1275078 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ACPS 2 ACPS 2 ACPS 2 ACPS II Acro-céphalo-syndactylie type 2 Acrocefalopolisindactilia tipo 2 Acrocefalopolisindattilia, tipo 2 (ACPS 2) Acrocefalopolissindactilia tipo 2 (ACPS 2) Acrocephalopolysyndactyly type 2 Akrozephalopolysyndaktylie Typ 2 Polisindactilia acrocéfala de tipo 2 Carpenter syndrome Carpenter-Syndrom Sindrome di Carpenter Syndrome de Carpenter Síndrome de Carpenter Síndrome de Carpenter hrdo:pat_id_10880 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 201020 neant Q87.0 65798 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ACPS 4 ACPS 4 ACPS 4 ACPS IV Acro-céphalo-syndactylie type 4 Acrocefalopolisindactilia tipo 4 Acrocefalopolisindattilia, tipo 4 (ACPS 4) Acrocefalopolissindactilia tipo 4 (ACPS 4) Acrocephalopolysyndactyly type 4 Akrozephalopolysyndaktylie Typ 4 Polisindactilia acrocéfala de tipo 4 Goodman syndrome Goodman-Syndrom Sindrome di Goodman Syndrome de Goodman Síndrome de Goodman Síndrome de Goodman hrdo:pat_id_10881 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Insulin+resistance+fifth+metacarpals E11 66518 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Insulinresistenz - kurzes 5. Metakarpale Quintos metacarpianos cortos - resistencia a la insulina Resistenza all'insulina - V metacarpo breve Resistência à insulina - quintos metacarpianos curtos Résistance à l'insuline - cinquièmes métacarpiens courts Short fifth metacarpals - insulin resistance hrdo:pat_id_10882 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Takotsubo+cardiomyopathy+OR+(left+ventricular%5Btw%5D+ballooning+syndrome%5Btw%5D) I42.8 66529 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown '''Apical ballooning syndrome''' Ampulla cardiomyopathy Apical ballooning syndrome Apical-ballooning-Syndrom Ballonartige Kardiomyopathie Ballooning cardiomyopathy Cardiomiopatia ad ampolla Cardiomiopatia da rigonfiamento Cardiomiopatia da stress Cardiomiopatia di Takotsubo Cardiomiopatía de Tako-Tsubo Cardiomyopathie de stress Dilatação ventricular esquerda apical transitória Kardiomyopathie Typ Takotsubo Miocardiopatia de Tako-Tsubo Miocardiopatía de Takotsubo Miocardiopatía de la ámpula Miocardiopatía inducida por estrés Miocardiopatía por estrés Sindrome da rigonfiamento apicale Sindrome del rigonfiamento apicale transitorio del ventricolo sinistro Sindrome di Tako-Tsubo Sindrome di Takotsubo Stress cardiomyopathy Stress-Kardiomyopathie Syndrom der transienten linksventrikulären apikalen Ballonierung Syndrome de ballonisation apicale Syndrome de l'Apex ventriculaire en ballon Syndrome de tako-tsubo Syndrome de takotsubo Syndrome des coeurs brisés Síndrome de Tako-Tsubo Síndrome de Takotsubo Síndrome de abombamiento apical transitorio Síndrome de discinesia apical Síndrome de discinesia apical transitoria de ventrículo izquierdo Tako-tsubo syndrome Takotsubo cardiomyopathy Takotsubo syndrome Takotsubo-Syndrom Transient left ventricular apical ballooning syndrome Cardiomiopatia di Tako-Tsubo Cardiomyopathie Tako-Tsubo Miocardiopatia Takotsubo Miocardiopatía de Tako-Tsubo Tako-Tsubo cardiomyopathy Tako-Tsubo-Kardiomyopathie hrdo:pat_id_10883 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant 66624 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Autoimmun-Erkrankung mit assoziierter Streptokokken-Infektion im Kindesalter Doenças pediátricas auto-imunes associadas a infecções estreptocócicas Doenças pediátricas auto-imunes neuropsiquiátricas associadas a infecções estreptocócicas Doenças pediátricas autoimunes associadas a infeções estreptocócicas Doenças pediátricas autoimunes neuropsiquiátricas associadas a infeções estreptocócicas Malattie autoimmuni pediatriche da infezioni da Streptococco Malattie autoimmuni pediatriche neuropsichiatriche da infezioni da Streptococco Pediatric Autoimmune Disorders Associated with Streptococcus infections Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcus infections Pädiatrische autoimmun-neuropsychiatrische Störung mit Streptokokken-Infektion Trouble neuropsychiatrique autoimmun par infection à streptocoques PANDAS PANDAS PANDAS PANDAS PANDAS PANDAS hrdo:pat_id_10884 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 605627 neant Q87.0 66625 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cerebro-oculo-nasal syndrome Sindrome cerebro-oculo-nasale Syndrome cérébro-oculo-nasal Síndrome cerebro-oculo-nasal Síndrome cerebro-óculo-nasal Zerebro-okulo-nasales Syndrom hrdo:pat_id_10885 D013586 66627 95412009 C0039106 disease Pigmented villonodular synovitis Sinovite villonodulare pigmentata Sinovite vilonodular pigmentada Sinovitis villonodular pigmentaria Synovialitis, pigmentierte villonoduläre Synovite villonodulaire pigmentaire hrdo:pat_id_10886 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 614962 neant E66.8 66628 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Leptinmangel, kongenitaler Adipositas durch angeborenen Leptinmangel Obesidad debida a la deficiencia congénita de leptina Obesidade por deficiência no recetor da leptina Obesity due to congenital leptin deficiency Obesità da deficit congenito di leptina Obésité par déficit congénital en leptine hrdo:pat_id_10887 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 609460 C537279 neant Q87.8 66629 C1836123 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 GOSHS GOSHS GOSHS GOSHS GOSHS GOSHS Megacolon - microcefalia Megacolon - microcefalia Megacolon - microcephaly Megakolon - Mikrozephalie Megalocólon - microcefalia Mégacôlon - microcéphalie Goldberg-Shprintzen megacolon syndrome Goldberg-Shprintzen-Megakolon-Syndrom Sindrome da megacolon di Goldberg-Shprintzen Syndrome de Goldberg-Shprintzen avec mégacôlon Síndrome de megacolon de Goldberg-Shprintzen Síndrome de megalocólon de Goldberg-Shprintzen hrdo:pat_id_10888 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 118980 neant Q74.0 66630 70794004 C0265565 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Clavícula, pseudoartrose da, congénita Klavikulapseudarthrose, kongenitale Congenital pseudoarthrosis of clavicle Pseudarthrose congénitale de la clavicule Pseudoarthrose der Klavikula, kongenitale Pseudoartrose da clavícula, congénita Pseudoartrosi congenita della clavicola Pseudoartrosis congénita de clavícula hrdo:pat_id_10889 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 609528 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=CEDNIK+OR+%28Sprecher+AND+Ishida+AND+MANDEL%29 Q82.8 66631 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome Disgenesia cerebral - neuropatia - ictiose - queratodermia palmo-plantar Sindrome disgenesia cerebrale-neuropatia-ittiosi-cheratoderma palmoplantare Syndrome de dysgénésie cérébrale-neuropathie-ichtyose-kératodermie palmoplantaire Síndrome de disgenesia cerebral - neuropatía - ictiosis - queratodermia palmoplantar Zerebrale Dysgenesie - Neuropathie - Ichthyose - palmoplantares Keratoderm   CEDNIK syndrome CEDNIK-Syndrom Sindrome CEDNIK Syndrome CEDNIK Síndrome CEDNIK Síndrome CEDNIK hrdo:pat_id_10891 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Sensorineural+hearing+loss+early+greying+essential+tremor 66633 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Pérdida de audición neurosensorial con aparición temprana de canas y temblor esencial Sensorineural hearing loss - early greying - essential tremor Sensorineurale Schwerhörigkeit - frühes Ergrauen - essentieller Tremor Sordità neurosensoriale - incanutimento precoce - tremore essenziale Surdez neuro-senssorial - embranquecimento precoce do cabelo - tremor idiopático Surdité neurosensorielle - grisonnement précoce - tremblement essentiel hrdo:pat_id_10892 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 610198 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28DCMA+AND+syndrome%29+OR+%28Davey+AND+Bernier%29 E71.1 66634 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown 3-Methylglutaconazidurie Typ 5 3-methylglutaconic aciduria type 5 Aciduria 3-metilglutaconica, tipo 5 Aciduria 3-metilglutacónica tipo 5 Acidurie 3-méthylglutaconique type 5 DCMA syndrome DCMA-Syndrom DMCA, síndrome MGA5 MGA5 MGA5 MGA5 MGA5 Sindrome DMCA Syndrome DCMA Síndrome DCMA Síndrome DMCA Cardiomiopatia dilatativa con atassia Cardiomyopathie dilatée - ataxie Dilated cardiomyopathy with ataxia Kardiomyopathie, dilatative - Ataxie Miocardiopatia dilatada com ataxia Miocardiopatía dilatada con ataxia hrdo:pat_id_10893 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 608022 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=diaphanospondylodysostosis+OR+%28Gonzales%5Bau%5D+AND+Verloes%5Bau%5D+AND+Maroteaux%5Bau%5D%29 Q78.8 66637 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Diafanospodilodisostose Diafanospondilodisostosi Diaphano-spondylo-Dysostose Diaphanospondylodysostosis Diáfano-espondilodisostosis Dysostose diaphano-spondylaire hrdo:pat_id_10894 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter D034701 neant Q82.2 66646 397012002 C1136033 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Cutaneous mastocytosis Mastocitose cutânea Mastocitosi cutanea Mastocitosis cutánea Mastocytose cutanée Mastozytose, kutane hrdo:pat_id_10895 Variabel Variabile Variable Variable Variable Variable Variável D012515 neant C96.2 66661 118615008 13583002 188660004 C0036221 disease Mast cell sarcoma Mastzellsarkom Sarcoma de mastocitos Sarcoma de mastócitos Sarcoma dei mastociti Sarcome mastocytaire hrdo:pat_id_10896 Variabel Variabile Variable Variable Variable Variable Variável neant C96.2 66662 63175003 C0272202 disease Extracutaneous mastocytoma Mastocitoma extra-cutâneo Mastocitoma extracutaneo Mastocitoma extracutáneo Mastocytome extra-cutané Mastozytom, extrakutanes hrdo:pat_id_10897 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 165300 C537128 neant H47.2 67036 C1833809 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atrofia ottica, autosomica dominante, tipo 3 Atrofia óptica autosómica dominante tipo 3 Atrophie optique type 3 autosomique dominante Autosomal dominant optic atrophy type 3 OPA3, autosomal dominant OPA3, autosomal-dominant OPA3, autosomica dominante OPA3, autosomique dominante OPA3, autosómica dominante Optikusatrophie, autosomal-dominante, Typ 3 Atrofia ottica e cataratta, autosomica dominante Atrofia óptica autosómica dominante y cataratas Atrofia ótica e catarata, autossómica dominante Atrophie optique - cataracte autosomique dominante Autosomal dominant optic atrophy and cataract Optikusatrophie und Katarakt, autosomal-dominante Form hrdo:pat_id_10898 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Variabel Variabile Variable Variable Variable Variable Variável 275355 C535575 10060121 67037 C1168401 disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 CCECC CECC Carcinome spinocellulaire de la tête et du cou HNSCC HNSCC HNSCC HNSCC HNSCC Head and neck squamous cell carcinoma Carcinoma a cellule squamose della testa e del collo Carcinoma de células escamosas da cabeça e pescoço Carcinoma de células escamosas de la cabeza y cuello Carcinome épidermoïde de la tête et du cou Squamous cell carcinoma of head and neck Squamöses Karzinom an Kopf und Nacken hrdo:pat_id_10899 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 109543 151400 609630 612557 612558 612559 D015451 10008958 neant C91.1 67038 277473004 51092000 92814006 C0023434 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 B-CLL B-CLL B-CLL B-CLL B-Zell-Lymphom, kleinzelliges B-cell chronic lymphoid leukemia CLL CLL Immunocitoma linfoplasmocitoide Immunocytome lymphoplasmacytoïde Immunozytom, lymphoplasmozytoides Inmunocitoma linfoplasmocitoide Leucemia linfoide cronica a cellule B Leucemia linfoide crónica de células B Leucemia linfoplasmacítica Leucemia linfoplasmocitica Leukämie, chronisch lymphatische Linfoma linfocítico pequeño Lymphome lymphocytaire à petits lymphocytes Lymphoplasmacytic leukemia Lymphoplasmacytoid immunocytoma Piccolo linfoma linfocitico Small lymphocytic lymphoma B-Zell-Leukämie, chronische lymphatische B-cell chronic lymphocytic leukemia Leucemia linfatica cronica a cellule B Leucemia linfocítica crónica de células B Leucemia linfocítica crónica de células B Leucémie lymphocytaire chronique à cellules B hrdo:pat_id_109 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 154700 610380 D008382 10026829 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22marfan+syndrome%22%5BMeSH+Terms%5D+OR+Marfan+syndrome%5BText+Word%5D Q87.4 558 19346006 C0024796 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 MFS MFS MFS MFS MFS SM Marfan syndrome Marfan-Syndrom Sindrome di Marfan Syndrome de Marfan Síndrome de Marfan Síndrome de Marfan hrdo:pat_id_1090 613884 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Deletion+13q%5Btw%5D+OR+monosomy+13q%5Btw%5D+OR+%28chromosomes%2Chuman%2Cpair+13%5Bmajr%5D+AND+chromosome+deletion%5Bmajr%5D+AND+13q%5Btw%5D%29 Q93.5 1587 malformation syndrome DEL13Q14 Del(13)(q14) Del(13)(q14) Del(13)(q14) Del(13)(q14) Del(13)(q14) Deletion 13q14 syndrome Deletion 13q14-Syndrom Monossomia 13q Sindrome da delezione 13q14 Syndrome de déletion 13q14 Síndrome de deleción 13q14 Deleção 13q Monosomia 13q14 Monosomie 13q14 Monosomie 13q14 Monosomy 13q14 Monosomía 13q14 hrdo:pat_id_10900 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant K00.4 67039 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 DOS SOD SOD SOD Displasia odonto-maxilar segmentar Displasia odontomascellare segmentale Displasia odontomaxilar segmentaria Dysplasie odonto-maxillaire segmentaire Dysplasie, odonto-maxilläre segmentale Segmental odontomaxillary dysplasia hrdo:pat_id_10901 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 601492 neant E76.2 67041 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Mucopolisacaridosis tipo 9 Mucopolisaccaridosi, tipo 9 Mucopolissacaridose tipo 9 (MPS 9) Mucopolysaccharidose type 9 Mucopolysaccharidosis type 9 Mukopolysaccharidose Typ 9 Deficit di ialuronidasi Deficiência de hialuronidase Déficit de hialuronidasa Déficit en hyaluronidase Hyaluronidase deficiency Hyaluronidasemangel hrdo:pat_id_10902 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 605670 67042 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Autosomal dominant late-onset retinal degeneration Degenerazione retinica a esordio tardivo, autosomica dominante Degenerescência retiniana de início tardio autossómica dominante Dégénérescence rétinienne d'apparition tardive autosomique dominante LORD LORD LORD LORD Netzhautdystrophie, autosomal-dominante, spät beginnende Degeneración retiniana de aparición tardía Degenerazione retinica a esordio tardivo Degenerescência retiniana de início tardio Dégénérescence rétinienne d'apparition tardive Late-onset retinal degeneration Netzhautdystrophie, spät beginnende hrdo:pat_id_10903 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável D015823 10069408 neant B60.1+ H19.2* 67043 231896005 C0000880 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Acanthamoeba keratitis Acanthamoeba-Keratitis Cheratite da acantamoeba Kératite à Acanthamoeba Queratite por Acanthamoeba Queratitis por acantoamoeba hrdo:pat_id_10904 Variabel Variabile Variable Variable Variable Variable Variável 300367 neant D69.4 67044 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Anemia diseritropoietica-trombocitopenica legata all'X Anemia diseritropoyética ligada a X y trombocitopenia Anemia diseritropoyética y trombocitopenia ligadas al cromosa X Anemia e trombocitopenia diseritropoiética ligada ao X Anämie, dyserythropoetische X-chromosomale mit Thrombozytopenie Anémie dysérythropoïétique-thrombocytopénie, liée à l'X X-linked dyserythropoietic anemia and thrombocytopenia Anemia diseritropoietica - trombocitopenia Anemia diseritropoiética com trombocitopenia Anemia diseritropoyética con trombocitopenia Anämie, dyserythropoetische mit Thrombozytopenie Anémie dysérythropoïétique - thrombocytopénie Dyserythropoietic anemia with thrombocytopenia hrdo:pat_id_10905 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300123 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=X-linked+mental+retardation%5BText+Word%5D+AND+growth+hormone+deficiency%5Bti%5D 67045 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 MRGH MRGH MRGH MRGH Atraso mental ligado ao X com deficiência isolada de hormona de crescimento Déficit intellectuel lié à l'X - déficit isolé en hormone de croissance Geistige Retardierung, X-chromosomale mit isoliertem Wachstumshormonmangel Intellectual deficit, X-linked, with isolated growth hormone deficiency Ritardo mentale legato all'X - deficit isolato dell'ormone della crescita X-linked intellectual deficit with isolated growth hormone deficiency hrdo:pat_id_10906 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 250950 E71.1 67046 237951008 C0342727 C0342728 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 3-@metilglutaconil-coA hidratase, deficiência de 3-Methylglutaconyl-CoA-Hydratase-Mangel 3-methylglutaconyl-CoA hydratase deficiency 3MG-coA hidratase, deficiência de 3MG-coA hydratase deficiency 3MG-coA-Hydratase-Mangel AMG type I Deficit di 3-metilglutaconil-CoA idratasi Deficit di 3MG-CoA idratasi Deficiência de 3-@metilglutaconil-coA hidratase Deficiência de 3MG-coA hidratase Déficit en 3-méthylglutaconyl-CoA hydratase Déficit en 3MG-CoA hydratase MGA Typ I MGA tipo 1 MGA type 1 MGA, tipo 1 3-Methylglutaconazidurie Typ 1 3-methylglutaconic aciduria type 1 Aciduria 3-metilglutaconica, tipo 1 Aciduria 3-metilglutacónica tipo 1 Acidurie 3-méthylglutaconique type 1 Acidúria 3-metilglutacónica tipo 1 hrdo:pat_id_10907 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 258501 C535311 E71.1 67047 297232009 C0574084 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown AMG 3 Atrofia ottica di Costeff Atrofia ottica infantile con corea e paraplegia spastica Atrofia ottica, autosomica recessiva, tipo 3 Atrofia óptica 3 Atrofia óptica autosómica recesiva tipo 3 Atrofia óptica infantil - coreia - paraplegia espástica Atrofia óptica infantil con corea y paraplejía espástica Atrofia óptica plus, síndrome Atrofia ótica 3 Atrofia ótica infantil - coreia - paraplegia espástica Atrophie optique de Costeff Atrophie optique type 3 autosomique récessive Autosomal recessive optic atrophy type 3 Costeff optic atrophy syndrome Costeff syndrome Costeff, síndrome de Costeff-Syndrom Infantile optic atrophy with chorea and spastic paraplegia MGA 3 MGA 3 MGA 3 MGA 3 MGA 3 Optic atrophy plus syndrome Optikusatrophie, autosomal-rezessive, Typ 3 Optikusatrophie, infantile, mit Chorea und spastischer Paraplegie Optikusatrophie-Syndrom Typ Costeff Optikusatrophie-plus-Syndrom Sindrome dell'atrofia ottica plus Sindrome di Costeff Syndrome d'atrophie optique-plus Syndrome de Costeff Síndrome atrofia ótica plus Síndrome de Costeff Síndrome de Costeff Síndrome de atrofia óptica de Costeff Síndrome de atrofia óptica plus 3-Methylglutaconazidurie Typ 3 3-methylglutaconic aciduria type 3 Aciduria 3-metilglutaconica, tipo 3 Aciduria 3-metilglutacónica tipo 3 Acidurie 3-méthylglutaconique type 3 Acidúria 3-metilglutacónica tipo 3 hrdo:pat_id_10908 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 250951 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Methylglutaconic+%28aciduria%5Btw%5D+OR+acidosis%5Bmh%5D%29+%28type+4%5Btw%5D+OR+type+iv%5Btw%5D%29 E71.1 67048 297233004 C0574085 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown AGM 4 MGA 4 MGA 4 MGA 4 MGA 4 3-Methylglutaconazidurie Typ 4 3-methylglutaconic aciduria type 4 Aciduria 3-metilglutaconica, tipo 4 Aciduria 3-metilglutacónica tipo 4 Acidurie 3-méthylglutaconique type 4 Acidúria 3-metilglutacónica tipo 4 hrdo:pat_id_10909 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q73.8 69028 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Braquidactilia Sindromi con brachidattilia Syndrome mit assoziierter Brachydaktylie Syndromes avec brachydactylie Syndromes with brachydactyly Síndromes con braquidactilia hrdo:pat_id_10910 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Nephrotic+syndrome+(steroid%5Bti%5D+OR+steroids%2Ftu)+(sensitive%5Bti%5D+OR+responsive*%5Bti%5D+OR+dependent%5Bti%5D) N04 69061 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Idiopathic steroid-sensitive nephrotic syndrome Nephrotisches Syndrom, steroid-sensitives Sindrome nefrosica steroido-sensibile Syndrome néphrotique idiopathique cortico-sensible Síndrome nefrótico idiopático sensible a esteroides Síndrome nefrótico sensível aos esteróides hrdo:pat_id_10911 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Glomerulonephritis,+membranous+antibodies+(newborn+OR+neonat*+OR+pregnancy+OR+Antenatal) 69063 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Glomerulonefrite membranosa congenita da alloimmunizzazione materna anti-endopeptidasi neutra Glomerulonefrite membranosa congénita por aloimunização anti-endopeptidase neutra materna Glomerulonefritis membranosa congénita debido a aloinmunización por endopeptidasa neutral anti-materna Glomerulonephritis, kongenitale membranöse durch Alloimmunisierung gegen neutrale Endopeptidase Glomérulonéphrite extra-membraneuse congénitale secondaire à une alloimmunisation maternelle anti-endopeptidase neutre Membranous congenital glomerulonephritis due to anti-maternal neutral endopeptidase alloimmunisation hrdo:pat_id_10912 Variabel Variabile Variable Variable Variable Variable Variável 233100 neant E74.8 69076 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficiencia de SGLT2 Déficit de SGLT2 Déficit en SGLT2 Familial renal glucosuria Glicosúria renal familiar Glucosuria renal familiar Glucosuria renale familiare Glukosurie, familiäre renale SGLT2 deficiency Glicosúria renal Glucosuria renal Glucosuria renale Glucosurie rénale Glukosurie, renale Renal glucosuria hrdo:pat_id_10913 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 609322 613325 D018335 neant 69077 83118000 C0206743 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Tumeur rhabdoïde maligne Tumor, maligner rhabdoider Tumores rabdoides malignos Tumores rabdóides malignos Tumori rabdoidi maligni Rhabdoid tumor Tumeur rhabdoïde Tumor, rhabdoider Tumores rabdoides Tumores rabdóides Tumori rabdoidi hrdo:pat_id_10914 Variabel Variabile Variable Variable Variable Variable Variável 613488 D008080 10024627 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Liposarcoma%5Bmh%5D+OR+Liposarcoma%5Bti%5D C49 69078 254829001 49430005 C0023827 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Liposarcoma Liposarcoma Liposarcoma Liposarcome Liposarkom Lipossarcoma hrdo:pat_id_10916 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601957 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Mendoza+AND+Valiente%29+OR+%28odonto-tricho-ungual-digital-palmar+syndrome%29 69082 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dysplasie, ektodermale, Typ Mendoza-Valiente OTUDP syndrome OTUDP, síndrome Odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type Odonto-tricho-ungual-digito-palmares (OTUDP-) Syndrom Odonto-trico-ungueo-digito-palmar tipo Mendoza-Valiente, síndrome Sindrome OTUDP Sindrome odonto-trico-ungueale-digito-palmare, tipo Mendoza-Valiente Syndrome OTUDP Syndrome odonto-tricho-unguéo-digito-palmaire de Mendoza-Valiente Síndrome OTUDP Síndrome OTUDP Síndrome odonto-trico-ungueo-digito-palmar tipo Mendoza-Valiente Síndrome odonto-trico-ónico-digito-palmar tipo Mendoza-Valiente Odonto-tricho-ungual-digito-palmar syndrome Sindrome odonto-trico-ungueale-digito-palmare Syndrome odonto-tricho-unguéo-digito-palmaire Síndrome odonto-trico-ungueo-digito-palmar Síndrome odonto-trico-ónico-dígito-palmar Zahn-Haar-Nagel-Finger-Palma-Syndrom hrdo:pat_id_10917 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 601345 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=turnpenny+ectodermal+dysplasia 69083 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Displasia ectodermica con denti da latte, tipo Turnpenny Displasia ectodérmica com dentes neonatais tipo Turnpenny Displasia ectodérmica con dientes natales de tipo Turnpenny Dysplasie ectodermique - dents de naissance, type Turnpenny Dysplasie, ektodermale - natale Zähne, Typ Turnpenny Ectodermal dysplasia with natal teeth, Turnpenny type hrdo:pat_id_10918 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 602032 614928 614929 614931 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=pure+hair+nails+ectodermal+dysplasia 69084 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia ectodermica capelli-unghie Displasia ectodérmica cabello-uña HNED HNED HNED HNED HNED Hair-nail ectodermal dysplasia PHNED PHNED Displasia ectodermica pura dei capelli e delle unghie Displasia ectodérmica 'pura' tipo cabelo-unha Displasia ectodérmica pura de cabello-uña Dysplasie ectodermique pure des ongles et des cheveux Dysplasie, ektodermale, 'reiner' Haar-Nagel Typ Pure hair and nail ectodermal dysplasia hrdo:pat_id_10919 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 603543 C535903 69085 C1863753 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anomalies des membres - anomalies mammaires LMS LMS LMS LMS LMS SLM Limb-Mammary-Syndrom Limb-mammary syndrome Sindrome da anomalie mammarie e degli arti Syndrome limb-mammary Síndrome de miembros y mamas Síndrome membros-mama hrdo:pat_id_1092 602553 neant Q93.5 1590 C2930913 malformation syndrome 13q32 deletion Deletion 13q32 Delezione 13q distale Delezione 13q telomerica Delezione 13q32 Distal 13q deletion Délétion 13q32 Délétion distale 13q Délétion télomérique 13q Monosomia 13q32 Monosomie 13q32 Monosomie 13q32 Monosomy 13q32 Monosomía 13q32 Monossomia 13q32 Telomeric 13q deletion Deleción 13q32 Deletion 13q32 Deleção 13q32 Distal monosomy 13q Monosomia 13q distale Monosomie distale 13q hrdo:pat_id_10921 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 161000 neant Q82.4 69087 239084001 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 NFJ syndrome NFJ, síndrome NFJ-Syndrom Naegeli syndrome Naegeli, síndrome de Naegeli-Syndrom Sindrome NFJ Sindrome di Naegeli Syndrome NFJ Syndrome de Naegeli Síndrome NFJ Síndrome de NFJ Síndrome de Naegeli Síndrome de Naegeli Naegeli-Franceschetti-Jadassohn syndrome Naegeli-Franceschetti-Jadassohn-Syndrom Sindrome di Naegeli-Franceschetti-Jadassohn Syndrome de Naegeli-Franceschetti-Jadassohn Síndrome de Naegeli-Franceschetti-Jadassohn Síndrome de Naegeli-Franceschetti-Jadassohn hrdo:pat_id_10922 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300301 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=ectodermal+dysplasia+immunologic+lymphedema+OR+OL-EDA-ID Q78.2 69088 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 OL-EDA-ID OL-EDA-ID OLEDAID OLEDAID OLEDAID Síndrome OLEDAID Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema Anhidrotische ektodermale Dysplasie - Immundefekt - Osteopetrose - Lymphödem Diasplasia ectodérmica anidrótica com imunodeficiência, osteopetrose e linfedema Displasia ectodermica anidrotica - immunodeficienza - osteopetrosi - linfedema Displasia ectodérmica - con inmunodéficit anhidrótico - osteopetrosis - linfedema Dysplasie ectodermique anhidrotique - immunodéficience - ostéopétrose - lymphoedème hrdo:pat_id_10923 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 106750 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Verbov+ANONYCHIA 69125 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anonichia con pigmentazione delle pieghe di flessione Anoniquia com pigmentação das flexuras Anoniquia con pigmentación de los pliegues de flexión Anonychia with flexural pigmentation Anonychie - anomalies de la pigmentation des plis de flexion Anonychie mit umschriebener Pigmentierung hrdo:pat_id_10924 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 604416 69126 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Arthrite récurrente familiale Arthritis, familiäre rekurrente Artrite recorrente familiar Artrite ricorrente familiare Artritis recurrente familiar FRA Familial recurrent arthritis PAPA syndrome PAPA, síndrome PAPA-Syndrom Sindrome PAPA Syndrome PAPA Síndrome PAPA Síndrome PAPA Arthrite purulente - pyoderma gangrenosum - acné Artrite piogenica - pioderma gangrenoso - acne Artrite piogénica - piodermia gangrenosa - acne Artritis piógena - pioderma gangrenosum - acné Pyogene Arthritis - Pyoderma gangraenosum - Akne Pyogenic arthritis - pyoderma gangrenosum - acne hrdo:pat_id_10925 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 137100 269650 609529 D017098 10021260 10039915 neant D80.2 69127 190979003 29260007 C0162538 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch disease 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 Deficiencia de IgA Deficiencia de inmunoglobulina A Deficiencia de inmunoglobulina A selectiva Deficit di IgA Deficit selettivo di immunoglobulina A Deficiência de IgA Deficiência seletiva de gama-A-globulina Déficit de IgA Déficit de inmunoglobulina A selectiva Déficit en IgA Déficit sélectif en immunoglobuline A Gama-A-globulina, deficiência selectiva de Gamma-A-Globulin, selektiver Mangel des IgA deficiency IgA, deficiência de IgAD IgAD IgAD IgAD IgAD Immunoglobulin A-Mangel, selektiver SIgAD SIgAD SIgAD SIgAD SIgAD Selective immunoglobulin A deficiency Deficit di immunoglobulina A Deficiência de imunoglobulina A Déficit de inmunoglobulina A Déficit en immunoglobuline A Immunoglobulin A deficiency Immunoglobulin A-Mangel hrdo:pat_id_10932 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 600803 10068936 neant 69663 C2609268 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown ABCB4 gene mutation-associated cholelithiasis Cholelithiasis with ABCB4 gene mutation Cholélithiase par mutation du gène ABCB4 Colelitiasi da mutazione del gene ABCB4 Cholelithiasis, bedingt durch ABCB4-Genmutation Colelitíase com mutação no gene ABCB4 Colestasis con mutación del gen ABCB4 Lithiase biliaire à faible niveau de phospholipides Litiasi biliare con livelli bassi di fosfolipidi Low phospholipid associated cholelithiasis hrdo:pat_id_10933 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 147480 614972 C535932 neant O26.6 69665 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cholestase de la grossesse Cholestase gravidique intrahépatique Cholestase intrahépatique gestationnelle récidivante Cholestase, schwangerschaftsbedingte Colestase intra-hepática recorrente da gravidez Colestase relacionada com a gravidez Colestasi associata alla gravidanza Colestasi intraepatica ricorrente della gravidanza Colestasis intrahepática gravídica Colestasis intrahepática recurrente del embarazo Colestasis relacionada con el embarazo Gravidic intrahepatic cholestasis Pregnancy-related cholestasis Recurrent intrahepatic cholestasis of pregnancy Schwangerschaftscholestase, intrahepatische rekurrente Cholestase intrahépatique gestationnelle Colestase intra-hepática da gravidez Colestasi intraepatica della gravidanza Colestasis intrahepática del embarazo Intrahepatic cholestasis of pregnancy Schwangerschaftscholestase, intrahepatische hrdo:pat_id_10935 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 276710 neant E70.2 69723 413356003 415764005 C0268623 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown 4-Hydroxyphenylpyruvat-Dioxygenase-Mangel 4-hidroxifenilpiruvato dioxigenase, deficiência de Deficiência de 4-hidroxifenilpiruvato dioxigenase Deficiência de ácido 4-hidroxifenilpiruvico oxidase Tirosinemia da deficit di 4-idrossifenilpiruvato diossigenasi Tirosinemia da deficit di 4-idrossifenilpiruvico-acido ossidasi Tirosinemia da deficit di HPD Tirosinemia debida a deficiencia de 4-hidroxifenilpiruvato dioxigenasa Tirosinemia debida a deficiencia de HPD Tirosinemia debida a deficiencia de la oxidasa del ácido 4-hidroxifenilpiruvico Tirosinemia tipo III Tirosinemia, tipo III Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency Tyrosinemia due to HPD deficiency Tyrosinemia type III Tyrosinémie par déficit en 4-hydroxy-phényl-pyruvique acide oxydase Tyrosinémie par déficit en 4-hydroxyphenylpyruvate dioxygénase Tyrosinémie par déficit en HPD Tyrosinémie type III Ácido 4-hidroxifenilpiruvico oxidase, deficiência de Tirosinemia tipo 3 Tirosinemia tipo III Tirosinemia, tipo 3 Tyrosinemia type 3 Tyrosinämie Typ 3 Tyrosinémie type 3 hrdo:pat_id_10936 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 607823 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hypotrichosis+lymphedema+telangiectasia 69735 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hipotricose - linfedema - telangiectasia Hipotricosis - linfedema - telangiectasia Hypotrichose - Lymphödem - Telangiektasie Hypotrichose - lymphoedème - télangiectasie Hypotrichosis - lymphedema - telangiectasia Ipotricosi - linfedema - telangectasia hrdo:pat_id_10937 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=iris+depigmentation+Urgancioglu 69736 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acute bilateral depigmentation of the iris Depigmentazione bilaterale acuta dell'iride Despigmentación aguda bilateral del iris Despigmentação aguda bilateral da íris Dépigmentation aiguë bilatérale des iris Irisdepigmentierung, akute bilaterale hrdo:pat_id_10938 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601536 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Bosley+Salih+Alorainy Q87.8 69737 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Bosley-Salih-Alorainy syndrome Bosley-Salih-Alorainy-Syndrom Sindrome di Bosley-Salih-Alorainy Syndrome de Bosley-Salih-Alorainy Síndrome de Bosley-Salih-Aloainy Síndrome de Bosley-Salih-Alorainy hrdo:pat_id_10939 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601536 C535397 69739 C1832215 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ABSD ABSD ABSD ABSD Navajo brainstem syndrome Navajo-Hirnstamm-Syndrom   Sindrome del tronco cerebrale dei Navajo Síndrome ABSD Síndrome tronco cerebral de Navajo Síndrome troncoencefálico de los navajo Tronco cerebral de Navajo, síndrome Athabaskan brainstem dysgenesis syndrome Athabasken-Hirnstammdysgenesie-Syndrom Disgenesia do tronco cerebral de Athabaskan Dysgénésie du tronc cérébral d'Athabaskan Sindrome da disgenesia del tronco cerebrale, tipo Athabaskan Síndrome disgenésico del tronco encefálico de Athabaskan hrdo:pat_id_10941 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28palmar+hypokeratosis%29+OR+%28Circumscribed+palmar%29 69744 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Circumscribed palmoplantar hypokeratosis Hipoqueratose palmo-plantar focal Hipoqueratosis circunscrita palmo-plantar Hypokeratose, palmoplantare zirkumskripte Hypokératose palmoplantaire circonscrite Ipocheratosi palmoplantare circoscritta hrdo:pat_id_10942 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 10068856 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28warty+dyskeratoma%29+OR+%28follicular+dyskeratoma%29 69745 22524002 254676008 C0334063 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Discheratoma follicolare Disqueratoma folicular Disqueratoma folicular Dyskeratosis follicularis isolata Dyskératome folliculaire Follicular dyskeratoma Discheratoma verrucoso Disqueratoma verrugoso Disqueratoma verrugoso Dyskeratom, warziges Dyskératome verruqueux Warty dyskeratoma hrdo:pat_id_10944 144650 D006954 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hyperlipoproteinemia+type+v+OR+%28hyperlipoproteinemia%5Bti%5D+type+5%5Bti%5D%29 E78.3 70470 34349009 C0020481 disease Hiperlipidemia grave Hiperlipidemia major Hiperlipidemia severa Hyperchylomikronämie Hyperlipidémie majeure Iperlipidemia maggiore Major hyperlipidemia Hiperlipoproteinemia de tipo 5 Hiperlipoproteinemia tipo 5 Hyperlipoproteinemia type 5 Hyperlipoproteinämie Typ 5 Hyperlipoprotéinémie type 5 Iperlipoproteinemia, tipo 5 hrdo:pat_id_10945 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 220111 neant G31.8 70472 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown COX tipo franco-canadiano, deficiência de COX-Mangel, französisch-kanadischer Typ Citocromo c oxidase tipo franco-canadiano, deficiência de Cytochrom-c-Oxidase-Mangel, französisch-kanadischer Typ Deficit di COX, tipo franco-canadese Deficit di SLSJ-COX Deficit di citocromo C ossidasi, tipo franco-canadese Deficiência de COX tipo franco-canadiano Deficiência de SLSJ-COX Deficiência de citocromo c oxidase tipo franco-canadiano Déficit de COX tipo franco-canadiense Déficit de COX-SLSJ Déficit de citocromo C oxidasa tipo franco-canadiense Déficit en COX type franco-canadien Déficit en SLSJ-COX Déficit en cytochrome oxydase C type franco-canadien French-Canadian type COX deficiency French-Canadian type Cytochrome C oxidase deficiency French-Canadian type Leigh syndrome Leigh tipo Sanguenay-Lac-St. Jean, síndrome de Leigh tipo franco-canadiano, síndrome de Leigh-Syndrom, Saguenay-Lac-St.Jean Typ Leigh-Syndrom, französisch-kanadischer Typ Maladie de Saguenay-Lac-St. Jean par déficit en cytochrome oxydase SLSJ-COX deficiency SLSJ-COX, deficiência de SLSJ-COX-Mangel Saguenay-Lac-St. Jean cytochrome oxidase deficiency Saguenay-Lac-St. Jean type Leigh syndrome Sindrome di Leigh, tipo Saguenay-Lac-St. Jean Sindrome di Leigh, tipo franco-canadese Syndrome de Leigh type franco-canadien Síndrome de Leigh tipo Saguenay-Lac-St. Jean Síndrome de Leigh tipo Sanguenay-Lac-St. Jean Síndrome de Leigh tipo franco-canadiano Síndrome de Leigh tipo franco-canadiense Acidose lactique congénitale type Saguenay Lac Saint-Jean Congenital lactic acidosis, Saguenay-Lac-St. Jean type Cytochrom-c-Oxidase-Mangel Typ Saguenay-Lac-St.Jean Deficit di citocromo ossidasi di Saguenay-Lac-St. Jean Deficiência de Saguenay-Lac-St. Jean citocromo oxidase Déficit de citocromo oxidasa de Saguenay-Lac-St.Jean hrdo:pat_id_10947 neant G31.8 70474 clinical subtype Ataxia - leucodistrofia - tubulopatia por deficiência de COX Cardiomiopatia con ipotonia da deficit di citocromo C ossidasi Cardiomiopatia con miopatia da deficit di COX Cardiomiopatía con hipotonia por déficit de citocromo C oxidasa Cardiomyopathie avec hypotonie par déficit en cytochrome C oxydase Cardiomyopathie avec myopathie par déficit en COX Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency Cardiomyopathy with myopathy due to COX deficiency Enfermedad de Leigh con miopatía Kardiomyopathie mit Hypotonie durch Cytochrome-C-Oxidase-Mangel Kardiomyopathie mit Myopathie durch COX-Mangel Leigh disease with myopathy Leigh-Syndrom mit Myopathie Maladie de Leigh avec myopathie Malattia di Leigh con miopatia Miocardiopatía con hipotonia por déficit de citocromo C oxidasa Miocardiopatía con miopatía por déficit de COX Leigh syndrome with cardiomyopathy Leigh-Syndrom - Kardiomyopathie Miocardiopatia - hipotonia por deficiência de citocromo c oxidase Sindrome di Leigh con cardiomiopatia Syndrome de Leigh avec cardiomyopathie Síndrome de Leigh con miocardiopatía hrdo:pat_id_10948 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 10037766 neant K62.7 70475 235760009 C0400827 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Proctite da radiazioni Proctite por radiação Proctite radique Proctitis por radiación Radiation proctitis Radiogene Proktitis hrdo:pat_id_10949 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Vernal+keratoconjunctivitis%5Bti%5D+OR+Spring+catarrh%5Bti%5D H16.2 70476 317349009 C0022577 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Catarro primaveral Catarro primaveril Frühlingskatarrh Kératoconjonctivite printanière Spring catarrh Cheratocongiuntivite primaverile Frühjahrskonjunktivitis Kératoconjonctivite vernale Queratoconjuntivite primaveril Queratoconjuntivitis primaveral Vernal keratoconjunctivitis hrdo:pat_id_10950 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 133239 614266 10030155 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28esophageal%5Bti%5D+OR+oesophageal%5Bti%5D%29+AND+%28carcinoma%5Bti%5D+OR+squamous+cell+carcinoma%5Bti%5D%29 C15 70482 372138000 C0152018 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Cancer de l'oesophage Cáncer esofágico Esophageal cancer Carcinoma dell'esofago Carcinoma esofágico Carcinoma esofágico Carcinome de l'oesophage Esophageal carcinoma Ösophaguskarzinom hrdo:pat_id_10951 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D001650 D018281 10004593 10008593 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Cholangiocarcinoma%5Bmh%5D+OR+Cholangiocarcinoma%5Bti%5D C22.1 70567 312104005 70179006 C0206698 C0740277 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Bile duct cancer CCA CCA CCA CCA Cancer des voies biliaires Cancro das vias biliares Cancro dei dotti biliari Cáncer de conducto biliar Cáncer de las vías biliares Gallengangkarzinom Cholangiocarcinoma Cholangiocarcinome Cholangiokarzinom Colangiocarcinoma Colangiocarcinoma Colangiocarcinoma hrdo:pat_id_10952 Variabel Variabile Variable Variable Variable Variable Variável 10051358 neant D47.9 70568 254290004 C0432487 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 DLPT PTLD Posttransplantations- Lymphoproliferativen Erkrankung (PTLD) Doença linfoproliferativa pós-transplante Enfermedad linfoproliferativa post-trasplante Lymphoproliferative Erkrankung nach Transplantation Maladie lymphoproliférative post-tranplantation Malattia linfoproliferativa post-trapianto Post-transplant lymphoproliferative disease hrdo:pat_id_10953 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 182280 neant C34 70573 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 CPCP CPCP SCLC SCLC SCLC Bronchialkarzinom, kleinzelliges Cancer du poumon à petites cellules Cancro polmonare a piccole cellule Cancro pulmonar de células pequenas Cáncer pulmonar de células pequeñas Small cell lung cancer hrdo:pat_id_10954 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant J80 70578 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown ARDS dell'adulto ARDS des Erwachsenen Adult ARDS Maladie des membranes hyalines de l'adulte SDRA adulto SDRA del adulto SDRA, do adulto Adult acute respiratory distress syndrome Schweres Akutes Atemnotsyndrom des Erwachsenen Sindrome da distress respiratorio acuto dell'adulto Syndrome de détresse respiratoire aiguë de l'adulte Síndrome de dificuldade respiratória aguda, do adulto Síndrome de distrés respiratorio agudo del adulto hrdo:pat_id_10958 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 267450 P22.0 70587 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown ARDS del bambino ARDS des Kindes Atemnotsyndrom, neonatales Doença das membranas hialinas Détresse respiratoire du nouveau-né Hyaline membrane disease Hyaline-Membran-Krankheit Infant ARDS Infant respiratory distress syndrome Maladie de la membrane hyaline Malattia della membrana ialina Membranas hialinas, doença das Neonatal respiratory distress syndrome SDRA infantil Sindrome da distress respiratorio del bambino Sindrome da distress respiratorio del neonato Syndrome de détresse respiratoire infantile Síndrome de dificuldade respiratória do lactente Síndrome de dificuldade respiratória neonatal Infant acute respiratory distress syndrome Schweres Aktues Atemnotsyndrom des Kindes Sindrome da distress respiratorio acuto del bambino Syndrome de détresse respiratoire aiguë de l'enfant Síndrome de dificuldade respiratória aguda, do lactente Síndrome de distrés respiratorio agudo infantil hrdo:pat_id_10959 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance D008471 neant P24.0 70588 206292002 C0025048 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Meconium aspiration syndrome Mekoniumaspirationssyndrom Sindrome da aspirazione di meconio Syndrome d'aspiration méconiale Síndrome aspiração meconial Síndrome de aspiracion de meconio hrdo:pat_id_1096 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q93.5 1597 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Delezione 17q distale Delezione 17q telomerica Distal 17q deletion Délétion distale 17q Délétion télomérique 17q Monosomia 17qter Monosomie 17q23 q24 Monosomie 17qter Monosomy 17qter Monosomía 17q23 q24 Monossomia 17q23 q24 Telomeric 17q deletion Deleción 17q23 q24 Deletion 17q23 q24 Deleção 17q23 q24 Distal monosomy 17q Monosomia 17q distale Monosomie distale 17q hrdo:pat_id_10960 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance D001997 10006475 neant P27.1 70589 67569000 C0006287 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 BPD BPD BPD DBP DBP Bronchopulmonary dysplasia Displasia brocopulmonar Displasia broncopolmonare Displasia broncopulmonar Dysplasie broncho-pulmonaire Dysplasie, bronchopulmonale hrdo:pat_id_10961 70590 disease AOI Apnea dell'infanzia (AOI) Apnea en la infancia Apnea infantil (AOI) Apnea of infancy Apneia da infância Apnoe im Kindesalter Apnea infantil Apnea infantile Apneia infantil Apnoe, infantile Apnée infantile Infantile apnea hrdo:pat_id_10962 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 612862 10068739 neant 70591 233947005 C2363973 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 CTEPH HPTC Chronic thromboembolic pulmonary hypertension Hipertensión pulmonar tromboembólica crónica Hipertensão pulmonar tromboembólica crónica Hypertension pulmonaire thromboembolique chronique Hypertension, chronische thromboembolische pulmonale Ipertensione polmonare tromboembolica cronica hrdo:pat_id_10963 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 607676 neant D84.8 70592 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficiencia de IRAK 4 Deficit di IRAK4 Deficiência de IRAK4 Déficit de IPK4RIL1 Déficit en IRAK4 IRAK4 deficiency IRAK4, deficiência de IRAK4-Mangel Immunodéficience par déficit en interleukin-1 receptor-associated kinase-4 Immundefekt durch Interleukin-1-Rezeptor assoziierten Kinase-4-Mangel Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency Immunodeficienza da deficit di interleuchina-1 chinasi-4 associata al recettore Immunodéficience par déficit en IRAK4 Imunodeficiência por deficiência de cinase 4 associada ao recetor da interleucina-1 Inmunodeficiencia por déficit de quinasa-4 asociado al receptor de interleuquina-1 hrdo:pat_id_10964 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant D80.8 70593 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Immundefekt durch selektiven Antipolysaccharid-Antikörper-Mangel Immunodeficiency due to selective anti-polysaccharide antibody deficiency Immunodeficienza da deficit selettivo di anticorpi anti-polisaccaridici Immunodéficience par déficit sélectif en anticorps anti-polysaccharide Imunodeficiência por deficiência seletiva de anticorpos anti-polissacarídeos Inmunodeficiencia por déficit selectivo de anticuerpos anti-polisacáridos hrdo:pat_id_10965 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 612716 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Sepiapterin+reductase+deficiency G24.1 70594 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficiência de sepiapterina redutase Distonia Dopa-sensibile da deficit della sepiapterina reduttasi Distonía con respuesta a dopa por déficit de sepiapterina reductasa Dopa responsive dystonia due to sepiapterin reductase deficiency Dystonie dopa réactive par déficit en sépiaptérine réductase Dystonie, Dopa-responsive, durch Sepiapterin-Reduktase-Mangel hrdo:pat_id_10966 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 607459 C537583 70595 C1843851 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown SANDO SANDO SANDO SANDO SANDO Ataxie neuropathique sensorielle - dysarthrie - ophtalmoplégie Neuropathie, sensorisch-ataktische - Dysarthrie - Ophthalmoplegie Neuropatia atassica sensitiva - disartria - oftalmoparesi Neuropatia sensorial atáxica - disartria - oftalmoparésia Neuropatía atáxica sensitiva - disartria - oftalmoplejía Sensory ataxic neuropathy - dysarthria - ophthalmoparesis hrdo:pat_id_10967 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant P35.8 70596 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Antenatal Epstein-Barr virus infection Epstein-Barr Virusinfektion, antenatale Infección antenatal por virus Epstein-Barr Infection anténatale à Epstein-Barr virus Infecção pré-natal por vírus Epstein-Barr Infezione prenatale da virus di Epstein-Barr Infeção pré-natal por vírus Epstein-Barr Congenital Epstein-Barr virus infection Epstein-Barr Virusinfektion, kongenitale Infección congénita por virus Epstein-Barr Infection congénitale au virus d'Epstein-Barr Infezione congenita da virus di Epstein-Barr Infeção congénita por vírus Epstein-Barr hrdo:pat_id_10976 71198 group of phenomes Hipertensión pulmonar Hipertensão pulmonar, rara Hypertension pulmonaire rare Hypertension, pulmonale Ipertensione polmonare Rare pulmonary hypertension hrdo:pat_id_10980 neant D69.1 71202 group of phenomes Coagulopathie rare par anomalie constitutionnelle des plaquettes Coagulopathie rare par thrombopathie et/ou thrombocytopénie constitutionnelle Coagulopatia rara da difetto piastrinico costituzionale Coagulopatia rara da trombopatia e/o trombocitopenia costituzionale Coagulopatía rara debida a una anomalía plaquetaria constitucional Coagulopatía rara debida a una trombopatía y/o trombocitopenia constitucional Disturbo emorragico raro da trombopatia e/o trombocitopenia costituzionale Maladie hémorragique rare par thrombopathie et/ou thrombocytopénie constitutionnelle Rare bleeding disorder due to a constitutional platelet anomaly Rare bleeding disorder due to a constitutional thrombopathy and/or thrombocytopenia Rare coagulopathy due to a constitutional platelet anomaly Rare coagulopathy due to a constitutional thrombopathy and/or thrombocytopenia Rare hemorrhagic disorder due to a constitutional thrombopathy and/or thrombocytopenia Trastorno hemorrágico raro debido a una trombopatía y/o trombocitopenia constitucional Disturbo emorragico raro da difetto piastrinico costituzionale Maladie hémorragique rare par anomalie constitutionnelle des plaquettes Rare hemorrhagic disorder due to a constitutional platelet anomaly Thrombopathie, konstitutionelle Trastorno hemorrágico raro debido a una anomalía plaquetaria constitucional Trombopatia constitucional hrdo:pat_id_10981 neant D69.3 71203 group of phenomes Autoimmune thrombocytopenia Citopenia autoimune Thrombocytopénie auto-immune Thrombozytopenie, autoimmune Trombocitopenia autoimmune Trombocitopenia autoinmune hrdo:pat_id_10985 71209 group of phenomes Rare mesenchymal tumor Tumeur mésenchymateurse rare Tumeur rare des parties molles Rare soft tissue tumor Tumeur rare des tissus mous Tumor de tejidos blandos, raro Tumor raro dos tecidos moles Tumore raro dei tessuti molli Weichteiltumor, seltener hrdo:pat_id_10986 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável D009471 10029322 neant G36.0 71211 25044007 C0027873 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Devic's disease Devic-Krankheit Maladie de Devic Neuromielite ottica Neuromielite óptica Neuromielite ótica Neuromielitis óptica Doença de Devic Enfermedad de Devic Malattia di Devic Neuromyelitis optica Neuromyelitis optica Neuromyélite optique hrdo:pat_id_10987 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 231530 609975 neant E71.3 71212 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown 3-hidroxiacil-CoA desidrogenase de cadeias média e curtas, deficiência de Deficiência de 3-hidroxiacil-CoA desidrogenase de cadeias média e curtas Deficiência de HAD HAD, deficiência de Hiperinsulinismo por déficit de 3-hidroxilacil-CoA dehidrogenasa de cadena corta Hiperinsulinismo por déficit de HADH Hiperinsulinismo por déficit de SCHAD Hiperinsulinismo por déficit de glutamodeshidrogenasa Hipoglucemia hiperinsulinémica por déficit de 3-hidroxilacil-CoA dehidrogenasa Hyperinsulinemic hypoglycemia due to 3-hydroxylacyl-CoA dehydrogenase deficiency Hyperinsulinism due to HADH deficiency Hyperinsulinism due to SCHAD deficiency Hyperinsulinism due to glutamodehydrogenase deficiency Hyperinsulinism due to short-chain 3-hydroxylacyl-CoA dehydrogenase deficiency Hyperinsulinisme par déficit en HADH Hyperinsulinisme par déficit en SCHAD Hyperinsulinisme par déficit en chaîne courte 3-hydroxylacyl-CoA déshydrogénase Hyperinsulinisme par déficit en glutamodéshydrogenase Hyperinsulinismus durch HADH-Mangel Hyperinsulinismus durch Kurzketten-3-Hydroxyacyl-CoA-Dehydrogenase-Mangel Hyperinsulinismus durch SCHAD-Mangel Hyperinsulinismus durch glutamodehydrogenase deficiency Hyperinsulinämische Hypoglykämie durch 3-Hydroxyacyl-CoA-Dehydrogenase-Mangel Hypoglycémie hyperinsulinémique par déficit en en 3-hydroxylacyl-CoA déshydrogénase Iperinsulinismo da deficit di 3-idrossilacil-CoA deidrogenasi a catena corta Iperinsulinismo da deficit di HADH Iperinsulinismo da deficit di SCHAD Iperinsulinismo da deficit di glutammato deidrogenasi Ipoglicemia iperinsulinemica da deficit di 3-idrossilacil-CoA deidrogenasi M/SCHAD Deficiência de 3-hidroxilacil-CoA desidrogenase Hiperinsulinismo por déficit de 3-hidroxilacil-CoA dehidrogenasa Hyperinsulinism due to 3-hydroxylacyl-CoA dehydrogenase deficiency Hyperinsulinisme par déficit en 3-hydroxylacyl-CoA déshydrogénase Hyperinsulinismus durch 3-alpha-Hydroxyacyl-CoA-Dehydrogenase-Mangel Iperinsulinismo da deficit di 3-idrossiacil-CoA deidrogenasi hrdo:pat_id_10988 Variabel Variabile Variable Variable Variable Variable Variável neant D18.0 71213 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Emangioma retinico cavernoso Hemangioma cavernoso da retina Hemangioma cavernoso retiniano Hämangiom, kavernöses retinales Hémangiome caverneux de la rétine Retinal cavernous hemangioma hrdo:pat_id_10989 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=dentinogenesis+imperfecta+short+stature+hearing+loss+mental+retardation 71267 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dentinogenesi imperfetta - bassa statura - ipoacusia - ritardo mentale Dentinogenesis imperfecta - Kleinwuchs - Hörverlust - geistige Retardierung Dentinogenesis imperfecta - short stature - hearing loss - intellectual deficit Dentinogenèse imparfaite - petite taille - surdité - déficit intellectuel Dentinogénesis imperfecta - estatura baja - sordera - déficit intelectual Dentinogénse imperfeita - baixa estatura - surdez - atraso mental hrdo:pat_id_10991 Normal Normal Normal Normal Normal Normal Normale Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=exophthalmos+turbinate+hypertrophy H05.2 71269 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 BES BES BES BES SEB Benign exophthalmos syndrome Exophthalmos-Syndrom, benignes Sindrome dell'esoftalmo benigno Syndrome d'exophtalmie bénigne Síndrome de exoftalmos benigno Síndrome exoftalmia benigna hrdo:pat_id_10992 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28auricular+lip+%28opthalmological+OR+ophthalmological%29%29+OR+%28Murphy+betula+Brooks%29 Q87.0 71270 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anomalias auriculo-oculares - fenda labial Anomalie auricolo-oculari - labioschisi Anomalies auriculo-ophtalmologiques - fente labiale Anomalías auriculo-oculares, fisura labial Auriculoocular anomalies - cleft lip Aurikulookuläre Anomalien - Lippenspalte hrdo:pat_id_10993 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 220600 neant Q87.2 71271 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Ectrodactilia de mãos e pés - surdez Mains et pieds fendus - surdité Mani e piedi a ''chela'' - sordità Mano hendida - pie hendido - sordera Spalthand - Spaltfuß - Taubheit Split hand - split foot - deafness hrdo:pat_id_10994 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter C537234 10066142 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Sandifer%5Btw%5D+AND+Esophageal+Diseases+OR+Sandifer+syndrome%5Btw%5D 71272 230314007 C0338465 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Sandifer syndrome Sandifer-Syndrom Sindrome di Sandifer Syndrome de Sandifer Síndrome de Sandifer Síndrome de Sandifer hrdo:pat_id_10995 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=nutcracker%5Btw%5D+NOT+nutcracker+esophagus%5Btw%5D 71273 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Encarceramento da veia renal esquerda, síndrome Kompressionssyndrom der linken Nierenvene Left renal vein entrapment syndrome Pince aorto-mésentérique RNS RNS RNS Síndrome encarceramento da veia renal esquerda Renal nutcracker syndrome Renales Nussknackersyndrom Sindrome renale dello ''schiaccianoci'' Syndrome de la pince mésentérique Síndrome quebra-nozes renal Síndrome renal del cascanueces hrdo:pat_id_10996 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant D20.1 71274 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 DPL DPL DPL Diffuse peritoneal leiomyomatosis LPD LPD LPD LPD Leiomiomatosi peritoneale diffusa Leiomiomatosis peritoneal difusa Leiomyomatosis peritonealis disseminate Léiomyomatose péritonéale diffuse Peritoneale Leiomyomatose, diffuse Disseminated peritoneal leiomyomatosis Leiomiomatose peritoneal disseminada Leiomiomatosi peritoneale disseminata Leiomiomatosis peritoneal diseminada Léiomyomatose péritonéale disséminée Peritoneale Leiomyomatose, disseminierte hrdo:pat_id_10997 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis 268150 neant D58.8 71275 37272000 C0272052 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Rh nulo, síndrome de Rh-Mangel-Syndrom Rh-null syndrome Sindrome del Rh null Síndrome de Rh nulo Rh deficiency syndrome Rh-null-Syndrom Sindrome da deficit di Rh Syndrome de déficit Rh Síndrome de deficiencia de Rh Síndrome deficiência de Rh hrdo:pat_id_10998 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=silent+sinus%5Btw%5D 71276 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Collapsus progressif du sinus maxillaire Enophthalmus und Hypotropie durch Kieferhöhlenatelektase Imploding antrum syndrome Syndrome silent sinus Silent Sinus-Syndrom Silent sinus syndrome Sindrome del ''seno silente'' Syndrome du sinus silencieux Síndrome del seno silente Síndrome seio silencioso hrdo:pat_id_10999 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 606777 G93.4 71277 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 De Vivo disease De Vivo-Krankheit Deficiencia del transportador de la glucosa tipo 1 Deficit dei trasportatori del glucosio, tipo 1 Deficiência de transportador da glucose, tipo 1 Déficit del transportador de la glucosa tipo 1 Encefalopatía por deficiencia de GLUT1 Enfermedad de De Vivo Enzephalopathie durch GLUT1-Defekt Glucose transporter type 1 deficiency Glut-1 deficiency Syndrome Glut-1-Mangel-Syndrom Glut1-DS Glut1-DS Glut1-DS Glut1-DS Glut1-DS Maladie de De Vivo Malattia di De Vivo Sindrome da deficit di Glut-1 Síndrome de deficiencia de Glut-1 Síndrome de déficit de Glut-1 Síndrome déficit de Glut-1 Transportador da glucose, tipo 1, deficiência de Encefalopatia da deficit di GLUT1 Encefalopatia por deficiência de GLUT1 Encefalopatía por déficit de GLUT1 Encephalopathy due to GLUT1 deficiency Encéphalopathie par déficit en GLUT1 Glukosetransporter Typ 1-Mangel-Syndrom hrdo:pat_id_11 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Variabel Variabile Variable Variable Variable Variable Variável 219750 219800 219900 D003554 10011777 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=cystinosis%5Bmajr%5D E72.0 213 190681003 C0010690 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Defeito proteico no transporte de cistina, Deficit del trasportatore della cistina Déficit de transportador de cistina Déficit en transporteur de la cystine Protein defect of cystin transport Transporte de cistina, defeito protéico no Zystinose Cistinose Cistinosi Cistinosis Cystinose Cystinose Cystinosis hrdo:pat_id_110 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 214800 D058747 10064063 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=charge+association%5Btw%5D Q87.8 138 47535005 C0265354 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Asociación CHARGE Association CHARGE Associazione CHARGE CHARGE association CHARGE, síndrome CHARGE-Assoziation Coloboma, heart defects, atresia choanae, retardation of growth and development, genitourinary problems, ear abnormalities Hall-Hittner syndrome Hall-Hittner-Syndrom Kolobom - Herzdefekte - Choanalatresie - Wachstums- und Entwicklungsretardierung - Urogenitale Störungen - Ohranomlien Sindrome di Hall-Hittner Syndrome de Hall-Hittner Síndrome CHARGE Síndrome de Hall-Hittner Associação CHARGE CHARGE syndrome CHARGE-Syndrom Sindrome CHARGE Syndrome CHARGE Síndrome CHARGE hrdo:pat_id_11000 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 610015 neant E72.8 71278 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficiencia de GS hereditario Deficiencia de glutamina sintetasa hereditaria Deficit ereditario di GS Deficit ereditario di glutamina sintetasi Disgenesia cerebral congénita por deficiencia de glutamina sintetasa Déficit en GS héréditaire Déficit en glutamine synthétase héréditaire Déficit hereditario de GS Déficit hereditario de glutamina sintetasa Inherited GS deficiency Inherited glutamine synthetase deficiency Congenital brain dysgenesis due to glutamine synthetase deficiency Disgenesia cerebral congénita por deficiência de glutamina sintetase Disgenesia cerebral congénita por déficit de glutamina sintetasa Disgenesia cerebrale congenita da deficit di glutamina sintetasi Dysgénésie cérébrale congénitale par déficit en glutamine synthétase Hirnfehlbildung, kongenitale durch Glutamin-Synthetase-Mangel hrdo:pat_id_11001 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta C537980 neant G61.8 71279 C2931684 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Ataxie chronique neuropathique - ophtalmoplégie - paraprotéine IgM - cryoagglutinines - anticorps disialilés Ataxie chronique neuropathique avec anticorps IgM anti-disialosyl Chronic ataxic neuropathy - ophthalmoplegia - IgM paraprotein - cold agglutinins - disialosyl antibodies Chronic sensory ataxic neuropathy with anti-dyalosyl IgM antibodies Chronisch-ataxische Neuropathie - Ophtalmoplegie - IgM-Paraprotein - Kälteagglutination - Disialosyl-Antikörper Neuropathie ataxiante avec IgM anti-gangliosides disialylés Neuropathie, ataxische chronische sensorische mit Anti-Disialosyl IgM-Antikörper Neuropatia atassica cronica - oftalmoplegia - paraproteina IgM - agglutinine da freddo - anticorpi anti-disialosil Neuropatia atassica sensitiva cronica associata a anticorpi anti-dialosil IgM Neuropatia crónica atáxica - oftalmoplegia - paraproteína IgM - aglutininas frias - anticorpos anti-dissialosil CANOMAD syndrome CANOMAD-Syndrom Sindrome CANOMAD Syndrome CANOMAD Síndrome CANOMAD Síndrome CANOMAD hrdo:pat_id_11003 71281 group of phenomes Doença vascular do sistema nervoso central e da retina, rara Enfermedad del sistema nervioso central y vascular de la retina,rara Maladie vasculaire rare du système nerveux central et de la rétine Malattia rara vascolare retinica e del sistema nervoso centrale Rare central nervous system and retinal vascular disease ZNS- und Netzhautkrankheit, vaskuläre seltene hrdo:pat_id_11011 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 605432 neant Q87.2 71289 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ATRUS syndrome ATRUS, síndrome Radioulnar-Synostose - amegakaryozytäre Thrombozytopenie Sindrome ATRUS Syndrome ATRUS Síndrome ATRUS Radio-ulnar synostosis - amegakaryocytic thrombocytopenia Radioulnar-Synostose - amegakaryozytische Thrombozytopenie Sinostose radio-cubital - trombocitopenia amegacariocítica Sinostosi radio-ulna - trombocitopenia amegacariocitica Sinostosis radio-ulnar - trombocitopenia amegacariocítica Synostose radio-ulnaire - thrombocytopénie amégakaryocytique hrdo:pat_id_11012 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis 601399 neant D69.4 71290 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Blutplättchen-Störungen, familiäre, mit assoziierter myeloischer Malignität Difetto familiare delle piastrine associato a malignità mieloide FPD/AML syndrome FPS/AML syndrome FPS/AML, síndrome FPS/AML-Syndrom Familial platelet disorder with associated myeloid malignancy Familial platelet syndrome Platelet-Syndrom, familiäres Sindrome FPS/AML Sindrome piastrinica familiare con predisposizione alla leucemia mieloblastica Syndrome FPD/AML Syndrome FPS/AML Syndrome plaquettaire familial Síndrome FPD/AML Síndrome FPS/AML Síndrome FPS/AML Síndrome das plaquetas, familiar, com predisposição para leucemia mielogenosa aguda Síndrome plaquetario familiar Trastorno plaquetario familiar con neoplasia mieloide asociada Trombocitopatia familiar com neoplasia mielóide associada Anomalies plaquettaires familiales - prédisposition à la leucémie myéloïde Familial platelet syndrome with predisposition to acute myelogenous leukemia Familiäres Platelet-Syndrom mit Prädisposition für akute myeloische Leukämie Sindrome piastrinica familiare Síndrome das plaquetas familiar Síndrome plaquetario familiar con predisposición a leucemia mielógena aguda hrdo:pat_id_11013 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis 192315 neant 71291 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 HVR HVR HVR HVR HVR Hereditary vascular retinopathy - Raynaud phenomenon - migraine RVH Retinopatia vascolare ereditaria - fenomeno di Raynaud - emicrania Retinopatía hereditaria vascular - fenómeno de Raynaud - migraña Rétinopathie vasculaire héréditaire - phénomène de Raynaud - migraine Hereditary vascular retinopathy Retinopathie, hereditäre vaskuläre Retinopatia vascolare ereditaria Retinopatia vascular hereditária Retinopatía hereditaria vascular Rétinopathie vasculaire héréditaire hrdo:pat_id_11014 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 187950 300331 601977 614521 neant D75.2 71493 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Familial thrombocythemia Hereditary thrombocythemia Thrombocytémie familiale Thrombocytémie héréditaire Thrombozythämie, hereditäre Trombocitemia ereditaria Trombocitemia familiare Trombocitemia hereditária Trombocitopenia familiar Trombocitopenia hereditaria Familial thrombocytosis Thrombocytose familiale Thrombozytose, familiäre Trombocitose familiar Trombocitosi familiare Trombocitosis familiar hrdo:pat_id_11015 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 71505 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CAR syndrome CAR, síndrome CAR-Syndrom Paraneoplastic retinopathy Retinopathie, paraneoplastische Retinopatia paraneoplastica Retinopatia paraneoplásica Retinopatía paraneoplásica Sindrome CAR Síndrome CAR Síndrome CAR Cancer-associated retinopathy Retinopathie, karzinomassoziierte Retinopatia associada a cancro Retinopatia associata al tumore Retinopatía asociada a cancer Rétinopathie paranéoplasique hrdo:pat_id_11016 Variabel Variabile Variable Variable Variable Variable Variável neant G24.1 71516 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate group of phenomes <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Distonias mistas Distonie miste Distonías mixtas Dystonie mixte Dystonie, gemischter Typ Mixed dystonia hrdo:pat_id_11017 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 128235 neant G24.1 71517 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 DYT12 DYT12 DYT12 DYT12 Distonia 12 Distonia 12 Dystonia 12 Dystonie 12 Distonia de início agudo - parkinsonismo Distonia-parkinsonismo a esordio rapido Distonia-parkinsonismo de inicio rápido Dystonie-Parkinsonismus mit rapidem Beginn Dystonie-parkinsonisme à début rapide Rapid-onset dystonia-parkinsonism hrdo:pat_id_11018 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 71518 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Benign paroxysmal torticollis of infancy Torcicollo parossistico benigno dell'infanzia Torcicolo paroxístico benigno da infância Torticolis paroxystique bénin de l'enfant Torticolis paroxístico benigno de la infancia Torticollis, benigner paroxysmaler, des Kindesalters hrdo:pat_id_11019 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável neant F44.4 71519 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Distonia psicogena Distonia psicogénica Dystonie psychogène Dystonie, psychogene Psychogenic dystonia Alterações do movimento psicogénicas Disturbi psicogeni del movimento Mouvements anormaux psychogènes Psychogene Bewegungsstörungen Psychogenic movement disorders Trastornos psicógenos del movimiento hrdo:pat_id_11020 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 609734 E66.8 71526 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficit di POMC Deficiência de POMC Déficit en POMC POMC deficiency POMC, deficiência de Adipositas durch Proopiomelanocortin-Mangel Obesidad por déficit de pro-opiomelanocortin Obesidade por deficiência de pro-opiomelanocortina Obesity due to pro-opiomelanocortin deficiency Obesità da deficit di pro-opiomelanocortina Obésité par déficit en pro-opiomélanocortine hrdo:pat_id_11021 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 600955 E66.8 71528 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficit di PCI Deficiência de PCI PCI deficiency PCI, deficiência de PCI-Mangel Adipositas durch Prohormon-Konvertase I-Mangel Obesidad debida a deficiencia de prohormona convertasa-I Obesidade por deficiência de pro-hormona convertase-I Obesity due to prohormone convertase-I deficiency Obesità da deficit di pro-ormone convertasi 1 Obésité par déficit en prohormone convertase-1 hrdo:pat_id_11022 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601665 E66.8 71529 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo malformation syndrome 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Deficiencia de MC4R Deficit di MC4R Deficiência de MC4R Déficit de MC4R Déficit en MC4R MC4R deficiency MC4R, deficiência de MC4R-Mangel Adipositas durch Melanokortin-4 Rezeptor-Mangel Obesidad debida a deficiencia del receptor de melanocortina-4 Obesidade por deficiência de recetores da melacortina-4 Obesity due to melanocortin-4 receptor deficiency Obesità da deficit del recettore della melanocortina-4 Obésité par déficit du récepteur de la mélanocortine 4 hrdo:pat_id_11025 71859 group of phenomes Doença neurológica genética Enfermedad neurológica, genética Maladie neurologique génétique rare Malattia neurologica genetica Neurologische Krankheit, genetisch bedingte Rare genetic neurological disease hrdo:pat_id_11028 D058499 10038857 71862 314407005 C0854723 group of phenomes Distrofia da retina, genética Distrofia retiniana Distrofia retinica Dystrophie rétinienne Netzhautdystrophie Retinal dystrophy hrdo:pat_id_11030 71864 group of phenomes Canalopathie musculaire Canalopatia muscolare Canalopatia muscular Canalopatía muscular Ionenkanalkrankheit, muskuläre Muscular channelopathy hrdo:pat_id_11032 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=((Diarrhea,+Infantile+OR+enteropath*%5Bti%5D)+chronic%5Bti%5D+OR+%22intractable+diarrhea%22)+(infancy+OR+infant*%5Bti%5D)+NOT+Viruses 73014 group of phenomes DII Diarrea intratable de la infancia Diarreia intratável da infância IDI IDI IDI IDI Diarrea intratable de la infancia (término genérico) Diarrea intrattabile dell'infanzia Diarreia intratável da infância (termo genérico) Diarrhée intraitable de l'enfant Intractable diarrhea of infancy Intraktable Diarrhoe im Kindesalter hrdo:pat_id_11033 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter C537371 neant Q52.8 73217 253828000 C0431637 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate morphological anomaly 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Ausencia de conducto mulleriano Insufficienza dei dotti Mülleriani Insuficiência dos canais mullerianos Mullerian duct failure Aplasia Mülleriana Aplasia dos canais mullerianos Aplasia mulleriana Aplasie mullérienne Mullerian aplasia Müller-Gang-Aplasie hrdo:pat_id_11034 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 309580 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Hypotonic+facies+OR+Juberg+Marsidi+OR+Smith+Fineman+Myers+OR+Carpenter+Waziri+OR+Chudley+Lowry+OR+Holmes+Gang)+mental+retardation+%22X+linked%22 73220 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Atraso mental ligado ao X - hipotonia da face Déficit intelectual ligado al X - rostro hipotónico Déficit intellectuel lié à l'X - faciès hypotonique Geistige Retardierung, X-chromosomale - hypotones Gesicht Ritardo mentale legato all'X - facies ipotonica X-linked intellectual deficit - hypotonic face hrdo:pat_id_11035 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=developmental+osteopenia+ectodermal Q87.8 73223 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Allgemeine Entwicklungsverzögerung - Osteopenie - ektodermaler Defekt Atraso global do desenvolvimento - osteopenia - anomalias ectodérmicas Global developmental delay - osteopenia - ectodermal defect Retard du développement - ostéopénie - anomalies ectodermiques Retraso global del desarrollo - osteopenia - defecto ectodérmico Ritardo dello sviluppo globale - osteopenia - difetti ectodermici hrdo:pat_id_11036 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=renal+tubular%5Btw%5D+cardiomyopathy+hypomagnes* N25.8 73224 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Doença renal tubular - miocardiopatia Enfermedar tubular renal - cardiomiopatía Insuffisance rénale tubulaire - cardiomyopathie Malattia dei tubuli renali - cardiomiopatia Renaler Tubulusschaden - Kardiomyopathie Tubular renal disease - cardiomyopathy hrdo:pat_id_11037 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 611773 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hematuria+retinal+arteriolar+tortuosity H35.0 R31 73229 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 HANAC syndrome HANAC-Syndrom Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome Hereditäres Angiopathie-Nephropathie-Aneurysmen-Muskelkrampf-Syndrom Sindrome HANAC Sindrome angiopatia ereditaria-nefropatia-aneurismi-crampi muscolari Syndrome HANAC Syndrome d'angiopathie héréditaire-néphropathie-anévrismes-crampes musculaires Síndrome HANAC Síndrome hereditario con calambres musculares - aneurismas - nefropatía - angiopatía Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures Ematuria familiare autosomica dominante - tortuosità delle arterie retiniche - contratture Hematuria familiar, autosómica dominante - tortuosidad arteriolar retiniana - contracturas Hematúria familiar autossómica dominante - tortuosidade arteriolar da retina - artrogripose Hämaturie, autosomal-dominante familiäre - gewundene Netzhautarteriolen - Kontrakturen Hématurie autosomique dominante - tortuosités rétiniennes - crampes musculaires hrdo:pat_id_11038 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hypomineralization+mental+retardation Q79.8 73230 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anomalias da ossificação - atraso do desenvolvimento psicomotor Anomalie dell'ossificazione - ritardo dello sviluppo psicomotorio Anomalies de l'ossification - retard psychomoteur Anomalías de la osificación - retraso del desarrollo sicomotor Ossification anomalies - psychomotor development delay Ossifikationsstörung - psychomotorische Entwicklungsverzögerung hrdo:pat_id_11039 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=muscular+atrophy+Dandy-Walker+cataract G12.8 73245 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Amyotrophie spinale - malformation de Dandy-Walker - cataracte Atrofia muscolare spinale - complesso di Dandy-Walker - cataratta Atrofia muscular espinal - malformación de Dandy-Walker - cataratas Atrofia muscular espinhal - complexo de Dandy-Walker - catarata Spinal muscular atrophy - Dandy-Walker complex - cataracts Spinale Muskelatrophie - Dandy-Walker-Malformation - Katarakte hrdo:pat_id_11040 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Visceral+neuropathy+facial+dysmorphism+developmental+delay Q87.8 73246 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Neuropathie viscérale - anomalies cérébrales - dysmorphie - retard du développement Neuropatia visceral - anomalias do cérebro - dismorfia facial - atraso do desenvolvimento Neuropatia viscerale - anomalie encefaliche - dismorfismi facciali - ritardo dello sviluppo Neuropatía visceral - anomalías cerebrales - dismorfismo facial - retraso en el desarrollo Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay Viszerale Neuropathie - Gehirnanomalien - Gesichtsdysmorphien - Entwicklungsverzögerung hrdo:pat_id_11041 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 610247 613412 D057765 10064212 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Eosinophilic+esophagitis%5Btw%5D+OR+eosinophilic+oesophagitis%5Btw%5D K20 73247 235599003 C0341106 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Eosinophilic esophagitis Esofagite eosinfílica Esofagite eosinofila Esofagitis eosinofílica Oesophagite à éosinophiles Ösophagitis, eosinophile hrdo:pat_id_11042 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=central+neurocytoma*%5Bti%5D+OR+(neurocytoma%5Bmh%5D+brain%5Bmh%5D) 73256 128858006 C0206719 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Central neurocytoma Neurocitoma central Neurocitoma central Neurocitoma centrale Neurocytome central Neurozytom, zentrales hrdo:pat_id_11043 Variabel Variabile Variable Variable Variable Variable Variável D010229 10061906 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Paracoccidioidomycosis%5Bti%5D+or+Paracoccidioidomycosis%5Bmh%5D B41 73260 59925007 C0030409 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Paracoccidioidomicose Paracoccidioidomicosi Paracoccidioidomycosis Paracoccidiomicosis Paracoccidioïdomycose Parakokzidioidomykose hrdo:pat_id_11044 Variabel Variabile Variable Variable Variable Variable Variável D009091 D020096 10028098 10061418 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Mucormycosis%5Bti%5D+OR+Zygomycosis%5Bti%5D+OR+Zygomycosis%5Bmh%5D B46 73263 59277005 76627001 C0026718 C0043541 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Mucormicose Mucormicosi Mucormicosis Mucormycose Mucormycosis Mukormykose Zigomicose Zigomicosi Zigomicosis Zygomycose Zygomycosis Zygomykose hrdo:pat_id_11045 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=hypernyctohemeral%5Bti%5D+OR+hypernychthemeral%5Bti%5D+OR+((non-24-hour%5Btw%5D+circadian)+OR+%22non+24+hour+sleep+wake%22)+(syndrome+OR+disorder*) G47.2 73267 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Ciclo sono-vigília não-24h, síndrome Nicht-24-Stunden-Schlaf-Wach-Syndrom Non-24-Hour Sleep-Wake syndrome Sindrome della veglia di 24 ore Síndrome ciclo sono-vigília não-24h Síndrome del ciclo sueño vigilia superior a 24 horas Hypernychthemeral syndrome Hypernykthemerales Syndrom Sindrome ipernictemerale Syndrome hypernycthéméral Síndrome hipernictemeral Síndrome hipernictemeral hrdo:pat_id_11047 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Platelet+Aggregation+(%22glycoprotein+VI%22+OR+%22glycoprotein+IV%22+OR+Antigens,+CD36)+(defici*)+hemorrhagic+disorders D69.8 73271 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Bleeding diathesis due to a collagen receptor defect Diatesi emorragica da deficit dei recettori del collagene Diátesis hemorrágica por un defecto del receptor de colágeno Doenças hemorrágicas por deficiência de recetores do colagénio Hämorrhagische Diathese durch Kollagen-Rezeptor-Mangel Troubles hémorragiques par déficit en récepteur du collagène hrdo:pat_id_11048 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 608747 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Growth+Disorders+OR+%22short+stature%22)+(insulin+like+growth+factor+I%5Bmh%5D)+defici*+genetics+(humans%5Bmh%5D+OR+patients) E34.3 73272 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso do crescimento - surdez - atraso mental Deficit di IGF-1 Deficit primitivo del fattore di crescita insulino-simile Deficiência de IGF-1 Deficiência no fator de crescimento insulina-like, primária Déficit en IGF-1 Déficit primaire en facteur de croissance analogue à l'insuline Growth delay - deafness- intellectual deficit IGF-1 deficiency IGF-1, deficiência de IGF-1-Mangel Insulin-ähnlicher Wachstumsfaktor-1-Mangel, primärer Primary insulin-like growth factor deficiency Retard de croissance - surdité - déficit intellectuel Ritardo della crescita - sordità - deficit cognitivo Wachstumsverzögerung - Schwerhörigkeit - Intelligenzminderung Atraso do crescimento por deficiência de fator de crescimento insulina-like I Growth delay due to insulin-like growth factor I deficiency Retard de croissance par déficit du facteur de croissance analogue à l'insuline de type 1 Retraso en el crecimiento por déficit en el factor de crecimiento insulínico de tipo 1 Ritardo della crescita da deficit del fattore di crescita 1 insulino-simile Wachstumsverzögerung durch IGF-1 (insulin-like growth factor I)-Mangel hrdo:pat_id_11049 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 270450 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=((retardation%5Bti%5D+OR+delay%5Bti%5D)+OR+body+height+OR+short+stature%5Bti%5D)+(%22IGF+I+resistance%22+OR+%22GH+resistance%22+OR+%22factor+i+resistance%22) E34.3 73273 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown IGF-1 (Insulin-ähnlicher Wachstumsfaktor-1) Resistenz IGF-1, resistência ao IGF-1-Resistenz Resistance to IGF-1 Resistenza a IGF-1 Resistência ao IGF-1 Résistance à l'IGF-1 Atraso do crescimento por resistência ao fator de crescimento insulina-like I Growth delay due to insulin-like growth factor I resistance Retard de croissance par résistance au facteur de croissance analogue à l'insuline de type 1 Retraso en el crecimiento por resistencia al factor de crecimiento insulínico de tipo 1 Ritardo della crescita da resistenza al fattore di crescita 1 insulino-simile Wachstumsverzögerung durch IGF-1 (insulin-like growth factor I)-Resistenz hrdo:pat_id_11050 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 10053745 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=acquired+hemophilia%5Bti%5D+OR+acquired+haemophilia%5Bti%5D D68.4 D80.8 73274 C1096116 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Acquired hemophilia Emofilia acquisita Hemofilia adquirida Hemofilia adquirida Hämophilie, erworbene Hémophilie acquise hrdo:pat_id_11054 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=ackee+OR+blighia+sapida T62.2 73423 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Acute intoxication blighia sapida Blighia sapida (Akeepflaume), akute Vergiftung Blighia sapida, acute intoxication Doença do vómito da Jamaica Intossicazione acuta da Blighia sapida Intoxication aiguë par blighia sapida Intoxicação aguda por Blighia sapida Jamaican vomiting sickness Jamaican vomiting sickness ('Jamaika-Brechkrankheit') Jamaican vomiting sickness' Jamaican vomiting syndrome Jamaican vomiting syndrome' Malattia del vomito della Jamaica Sindrome del vomito della Jamaica Síndrome do vómito da Jamaica Vómito da Jamaica, doença do Vómito da Jamaica, síndrome do Acute ackee fruit intoxication Akee-Frucht, akute Vergiftung Intossicazione acuta da frutto ackee Intoxicación aguda por consumo de ackee Intoxication aiguë par le fruit d'Ackee Intoxicação aguda por fruta ackee hrdo:pat_id_1106 C535370 neant Q93.5 1611 C2930887 malformation syndrome Monosomia 20p Monosomie 20p Monosomie 20p Monosomy 20p Monosomía 20p Monossomia 20p Deleción 20p Deletion 20p Deletion 20p Delezione 20p Deleção 20p Délétion 20p hrdo:pat_id_11066 D009198 10028586 neant B87 75110 60412004 C0027030 group of phenomes Fliegenmadenkrankheit Miasi Miasis Miíase Myiase Myiasis Myiasis hrdo:pat_id_11067 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 278000 D015223 10053687 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Lysosomal+acid+lipase+deficiency+OR+Wolman+disease E75.5 75233 238074007 82500001 C0043208 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Doença de Wolman Enfermedad de Wolman Maladie de Wolman Malattia di Wolman Wolman disease Wolman-Krankheit hrdo:pat_id_11068 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 278000 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=cholesteryl+ester+storage+disease%5Bti%5D+OR+Cholesterol+Ester+Storage+Disease%5Bti%5D+OR+Cholesterol+Ester+Storage+Disease%5Bmh%3Anoexp%5D E75.5 75234 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cholesterol ester storage disease Enfermedad de acumulación de colesterol éster Enfermedad por almacenamiento de ésteres de colesterol Maladie de surcharge en cholestérol estérifié Cholesterinester-Speicherkrankheit Cholesteryl ester storage disease Doença no armazenamento de ésteres de colesterol Enfermedad por almacenamiento de ésteres de colesterol Maladie de stockage en esters du cholestérol Malattia da accumulo degli esteri del colesterolo hrdo:pat_id_11069 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 115210 609578 612422 615248 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Restrictive+cardiomyopathy%5Bti%5D+OR+Restrictive+cardiomyopathies%5Bti%5D+OR+Cardiomyopathy,+Restrictive%5Bmh%5D I42.5 75249 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Cardiomiopatia restrittiva idiopatica o familiare Cardiomiopatía restrictiva aislada familiar Cardiomyopathie restrictive familiale ou idiopathique Familial or idiopathic restrictive cardiomyopathy Kardiomyopathie, restriktive, familiäre oder idiopathische Miocardiopatía restrictiva aislada idiopática o familiar Cardiomiopatia restrittiva isolata familiare Cardiomyopathie restrictive familiale isolée Familial isolated restrictive cardiomyopathy Kardiomyopathie, restriktive, familiäre isolierte Miocardiopatia restritiva idiopática ou familiar Miocardiopatía restrictiva aislada familiar hrdo:pat_id_11070 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 609993 C536064 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Osteosclerosis+OR+sclerosing+dysplasia+bone)+(ovar*%5Bti%5D+OR+Ovarian+Failure,+Premature)+(skin%5Bti%5D+OR+Ichthyosis) 75325 C1864942 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia esclerosante de esqueleto - ictiosis - fallo ovárico prematuro Displasia esclerosante del hueso - ictiosis - fallo ovárico prematuro Displasia esclerosante do osso - ictiose - insuficiência ovárica precoce Displasia ossea sclerosante - ittiosi - insufficienza ovarica precoce Dysplasie sclérosante des os - ichtyose - ménopause précoce Sclerosing dysplasia of bone - ichthyosis - premature ovarian failure Osteosclerose - ictiose - insuficiência ovárica precoce Osteosclerosi - ittiosi - insufficienza ovarica precoce Osteosclerosis - ichthyosis - premature ovarian failure Osteosclerosis - ictiosis - fallo ovárico prematuro Osteosklerose - Ichthyose - vorzeitige Ovarialinsuffizienz Ostéosclérose - ichtyose - insuffisance ovarienne précoce hrdo:pat_id_11071 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 180000 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Retinal+Diseases+OR+retinal+hemorrhage%5Btw%5D)+(tortuosity%5Bti%5D+OR+%22arterial+tortuosity%22+OR+%22arteriolar+tortuosity%22) 75326 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Emorragia retinica con tortuosità vascolare Hemorragia da retina com tortuosidade vascular Hemorragia retinal con tortuosidad vascular Hemorragia retiniana con tortuosidad vascular Hémorragie de la rétine - tortuosité vasculaire Netzhautblutungen mit vaskulärer Tortuositas Retinal arteriolar tortuosity Retinal hemorrhage with vascular tortuosity Tortuosidad arteriolar retinal Tortuosidad arteriolar retiniana Tortuosidade arteriolar da retina Tortuosité des artérioles rétiniennes Vermehrte Schlängelung der Netzhautarterien Retinal arteries tortuosity Tortuosidad de las arterias retinianas Tortuosidade das artérias da retina Tortuositas der retinalen Arterien Tortuosità delle arteriole retiniche Tortuosité des artères de la rétine hrdo:pat_id_11072 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 136550 C537835 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=North+Carolina%5Btw%5D+(macular+dystrophy%5Btw%5D+OR+macular+degeneration%5Bmh%5D) H35.5 75327 312925009 C0730294 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CAPE dystrophy CAPED CAPED CAPED Central areolar pigment epithelial dystrophy Central retinal pigment epithelial dystrophy Distrofia CAPE Distrofia CAPE Distrofia areolar central del epitelio pigmentario Distrofia centrale areolare dell'epitelio pigmentato Distrofia centrale dell'epitelio retinico pigmentato Distrofia epitelial do pigmento areolar central (CAPED) Distrofia epitelial do pigmento retiniano central Distrofia foveal progresiva Distrofia macular de la retina tipo Carolina del Norte Distrofia macular retiniana 1, tipo Carolina do Norte (MCDR1) Distrofia maculare retinica della Carolina del Nord, tipo 1 Distrofia progressiva da fóvea Distrofia progressiva della fovea Distrofia retiniana central del epitelio pigmentario Dystrophie CAPE Dystrophie centrale aréolaire de l'épithélium pigmenté Dystrophie fovéale progressive Dystrophie maculaire rétinienne 1 type Caroline du Nord Dystrophie rétinienne de l'épithélium pigmenté central Foveadystrophie, progressive MCDR1 MCDR1 MCDR1 MCDR1 Makuladystrophie, retinale 1, Typ North Carolina (MCDR1) NCMD NCMD NCMD NCMD NCMD North Carolina macular dystrophy, retinal 1 Pigmentepitheldystrophie, retinale zentrale Progressive foveal dystrophy Zentrale areoläre Pigmentepithel Dystrophie (CAPE) Distrofia macular de Carolina del Norte Distrofia macular tipo Carolina do Norte Distrofia maculare della Carolina del Nord Dystrophie maculaire de la Caroline du Nord North Carolina Makuladystrophie North Carolina macular dystrophy hrdo:pat_id_11073 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis 600790 C535356 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Chorioretinal+progressive+bifocal+OR+%22PBCRA%22 75373 C1833321 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atrofia coriorretiniana bifocal progresiva Atrofia coriorretiniana bifocal progressiva (PBCRA) CRAPB CRAPB PBCRA Progressive bifokale chorioretinale Atrophie (PBCRA) Atrofia corioretinica bifocale progressiva Atrofia coriorretiniana bifocal progressiva Atrofia progresiva bifocal de la coroides y la retina Atrophie bifocale choriorétinienne progressive Atrophie, bifokale chorioretinale progressive Progressive bifocal chorioretinal atrophy hrdo:pat_id_11074 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 608415 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=bradyopsia+OR+(prolonged+response+suppression+electroretinography) H53.8 75374 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 PERRS PERRS Prolonged electroretinal response supression Soppressione prolungata della risposta elettroretinica (PERRS) Suppression de réponse électrorétinienne prolongée Supresión de la respuesta electroretinal prolongada Supresión prolongada de la respuesta electroretiniana Supressão da resposta electrorretiniana prolongada (PERRS) Verzögerte Zapfenadaptation (Prolonged electroretinal response supression (PERRS)) Bradiopsia Bradiopsia Bradiopsia Bradyopsia Bradyopsie Bradyopsie hrdo:pat_id_11075 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 126600 126700 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(drusen+dominant*+OR+%22Doyne%22)+(eye+diseases%2Fge+OR+retinal%5Bti%5D+OR+macula%5Bti%5D)+OR+%22malattia+leventinese%22 H35.5 75376 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown DHRD DHRD DHRD DHRD DHRD Distrofia retiniana en panal de Doyne Distrofia retinica a favo di Doyne Dominant drusen Dominant radial drusen Doyne honeycomb retinal dystrophy Doynsche Honigwabendystrophie Drusen dominante Drusen dominanti Drusen dominants Drusen radiaires dominants Drusen radial dominante Drusen radiali dominanti Drusen, dominante Drusen, dominante radiäre Dystrophie maculaire en rayon de miel de Doyne Malattia leventinese Malattia leventinese Malattia leventinese Malattia leventinese Malattia leventinese Drusas dominante Drusen familiar Drusen familiari Drusen familiaux Drusen, familiäre Familial drusen hrdo:pat_id_11076 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 215500 613105 613144 C535358 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Choroidal+dystrophy+central+areolar H31.2 75377 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Areolar atrophy of the macula Arteriosklerose der Aderhaut Atrofia areolare maculare Atrophie aréolaire maculaire CACD CACD CACD CACD (Central areolar choroidal dystrophy) Central areolar choroidal sclerosis Esclerose da coróide Sclerosi coroidale centrale areolare Sclérose centrale aréolaire de la choroïde Aderhautdystrophie, areoläre zentrale Central areolar choroidal dystrophy Distrofia coroidale centrale areolare Distrofia coroidea areolar central Distrofia da coróide central areolar Dystrophie de la choroïde centrale aréolaire hrdo:pat_id_11077 Normal Normal Normal Normal Normal Normal Normale Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(%22oligo+cone%22+OR+oligocone)+trichromacy 75378 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Oligocone syndrome Oligocone, síndrome Sindrome oligoconica Syndrome oligocône Síndrome de oligoconos Síndrome oligocone Zäpfchenmangel-Syndrom Oligocone trichromacy Oligocône trichromatie Tricomacia oligocone Tricromasia de oligoconos Tricromazia oligoconica Zäpfchenmangel-Trichromasie hrdo:pat_id_11078 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 153880 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Cystoid+macular+dystrophy%5Btw%5D+OR+(Macular+Edema%5Bmh%5D+Cystoid%5Btiab%5D) H35.5 75381 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Autosomal dominant cystoid macular edema DCMD DCMD DCMD DCMD DMCD Distrofia macular quística Distrofia maculare cistoide Edema macular familiar Edema macular familiar Edema macular quístico autosómico dominante Edema maculare familiare Familial macular edema Makuladystrophie, autosomal-dominante zystoide Makulaödem, familiäres Oedème maculaire cystoïde autosomique dominant Oedème maculaire familial Cystoid macular dystrophy Distrofia macular cistoide Dystrophie maculaire cystoïde Edema macular quístico autossómico dominante Edema maculare cistoide, autosomico dominante Makuladystrophie, zystoide hrdo:pat_id_11079 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 258100 613411 C537743 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=%22Oguchi+disease%22+OR+(night+blindness+stationary+oguchi) H53.6 75382 193687000 C1306122 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cecità notturna permanente congenita, tipo Oguchi Cegueira nocturna estacionária tipo Oguchi Cegueira noturna estacionária tipo Oguchi Ceguera nocturna congénita estacionaria tipo Oguchi Ceguera nocturna estacionaria congénita tipo Oguchi Congenital stationary night blindness, Oguchi type Cécité nocturne stationnaire congénitale type Oguchi Enfermedad de Oguchi Morbus Oguchi Oguchi's disease Oguchi's syndrome Oguchi's-Syndrom Oguchi, síndrome de Sindrome di Oguchi Stationäre Nachtblindheit, kongenitale, Typ Oguchi Syndrome d'Oguchi Síndrome de Oguchi Síndrome de Oguchi Doença de Oguchi Enfermedad de Oguchi Maladie d'Oguchi Malattia di Oguchi Oguchi disease Oguchi-Krankheit hrdo:pat_id_11080 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(heart+disease+OR+Heart+Defects,+Congenital+)+polydactyly+(brain+malformation%5Btw%5D+OR+Nervous+System+Malformations)+(hair+anomalies+OR+hair%2Fab) Q87.8 75389 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Goossens-Devriendt syndrome Syndrome de Goossens-Devriendt Síndrome de Goossens-Devriendt Brain malformation - congenital heart disease - postaxial polydactyly Hirnfehlbildungen - kongenitaler Herzfehler - postaxiale Polydaktylie Malfomación cerebral - enfermedad cardíaca congénita - polidactilia postaxial Malformations cérébrales - cardiopathie congénitale - polydactylie postaxiale Malformazione cerebrale - coardiopatia congenita - polidattilia postassiale Malformação cerebral - doença cardíaca congénita - polidactilia pós-axial hrdo:pat_id_11081 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 609981 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Immunologic+Deficiency+Syndromes%2Fge%5Bmh%3Anoexp%5D+OR+immunodeficiency%5Bti%5D)+natural+killer+cell*%5Bti%5D+(lack%5Bti%5D+OR+deficiency%5Bti%5D) D84.8 75391 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Immundefekt mit Mangel der natürlichen Killerzellen Immunodeficiency with natural-killer cell deficiency Immunodeficienza con deficit di cellule ''natural-killer'' Immunodéficience primitive avec déficit en cellules NK Imunodeficiência com deficiência de células NK Inmunodeficiencia con déficit de células natural-killer hrdo:pat_id_11082 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 130080 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Ehlers+Danlos+syndrome%5Bti%5D+OR+Ehlers+Danlos+syndrome%5Bmh%5D)+(type+viii%5Btw%5D+OR+periodontal+disease) Q79.6 75392 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown EDS 8 EDS VIII EDS VIII EDS VIII EDS VIII Ehlers-Danlos syndrome type 8 Ehlers-Danlos tipo periondontite, síndrome de Ehlers-Danlos-Syndrom Typ 8 SED VIII SED VIII SED de tipo 8 Sindrome di Ehlers-Danlos con periodontite Sindrome di Ehlers-Danlos, tipo 8 Syndrome d'Ehlers-Danlos type 8 Síndrome de Ehlers-Danlos tipo 8 Síndrome de Ehlers-Danlos tipo periondontite Ehlers-Danlos syndrome, periodontitis type Ehlers-Danlos-Syndrom, Periodontose Typ Sindrome di Ehlers-Danlos, tipo periodontite Syndrome d'Ehlers-Danlos type péri-odontite Síndrome de Ehlers-Danlos tipo 8 Síndrome de Ehlers-Danlos, tipo periodontitis hrdo:pat_id_11083 Normal Normal Normal Normal Normal Normal Normale Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 130070 C536201 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Ehlers+Danlos+syndrome+(progeroid+OR+Progeria) Q79.6 75496 C1869122 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 B4GALT7-CDG syndrome Biossíntese deficiente de sulfato de proteodermatano (PDS) Biosíntesis defectuosa del sulfato de proteodermatan Defective biosynthesis of proteodermatan sulfate Deficiencia de XGPT Deficiencia de galactosiltransferasa I Deficiencia de xilosil-proteína 4-beta-galactosiltransferasa Deficit di XGPT Deficit di galattosiltransferasi I Deficit di xilosilproteina 4-beta-galattosiltransferasi Deficiência de galactosiltransferase I Deficiência de xilosilproteína 4-beta-galactosiltransferase (XGPT) Difetto della biosintesi del proteodermatan solfato Déficit XGPT Déficit de XGPT Déficit de galactosiltransferasa I Déficit de synthèse en PDS Déficit de synthèse en protéodermatane sulfate Déficit de xilosil-proteína 4-beta-galactosiltransferasa Déficit en galactosyltransférase I Déficit en xylosylprotéine 4-bêta-galactosyltransférase EDS type progéroïde EDS, progeroid type EDS, progeroider Typ EDS, tipo progeroide EDS, tipo progeroide Galactosiltransferase I, deficiência de Galactosyltransferase I deficiency Galactosyltransferase I deficiency Galactosyltransferase-I-Mangel PDS PDS PDS PDS Proteodermatansulfat (PDS), defekte Biosynthese des SED type progéroïde Sindrome B4GALT7-CDG Sulfato de proteodermatano (PDS), biossíntese deficiente de Syndrome B4GALT7-CDG Síndrome B4GALT7-CDG XGPT deficiency XGPT-Mangel Xilosilproteína 4-beta-galactosiltransferase (XGPT), deficiência de Xylosylprotein 4-beta-Galactosyltransferase (XGPT)-Mangel Xylosylprotein 4-beta-galactosyltransferase deficiency Ehlers-Danlos syndrome, progeroid type Ehlers-Danlos-Syndrom, progeroider Typ Sindrome di Ehlers-Danlos, tipo progeroide Syndrome d'Ehlers-Danlos type progéroïde Síndrome de Ehlers-Danlos tipo progeroide Síndrome de Ehlers-Danlos tipo progeróide hrdo:pat_id_11084 Normal Normal Normal Normal Normal Normal Normale Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 305200 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Ehlers+Danlos+syndrome%5Bti%5D+(%22v+syndrome%22+OR+syndrome+type+V%5Btw%5D+OR+x+linked%5Btw%5D)+OR+%22Ehlers+Danlos+Type+v%22 Q79.6 75497 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 EDS V EDS V EDS V EDS V EDS V Ehlers-Danlos ligado ao X, síndrome de Ehlers-Danlos syndrome type 5 Ehlers-Danlos-Syndrom, X-chromosomales SED V SED V Sindrome di Ehlers-Danlos legata all'X Syndrome d'Ehlers-Danlos type 5 Síndrome de Ehlers-Danlos ligado al X Síndrome de Ehlers-Danlos ligado ao X Ehlers-Danlos-Syndrom Typ 5 Sindrome di Ehlers-Danlos, tipo 5 Syndrome d'Ehlers-Danlos lié à l'X Síndrome de Ehlers-Danlos tipo 5 Síndrome de Ehlers-Danlos tipo 5 X-linked Ehlers-Danlos syndrome hrdo:pat_id_11085 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 225310 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Ehlers+Danlos+syndrome%5Bti%5D+OR+Ehlers+Danlos+syndrome%5Bmh%5D)+(%22type+x%22+OR+%22type+10%22+OR+(Blood+Platelet+Disorders+fibronectins)) Q79.6 75501 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 EDS 10 EDS X EDS X EDS X EDS X Ehlers-Danlos com disfunção plaquetária por anomalias da fibronectina, síndrome de Ehlers-Danlos fibronectina-deficiente, síndrome de Ehlers-Danlos syndrome type 10 Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality Ehlers-Danlos syndrome, fibronectin-deficient Ehlers-Danlos tipo fibronectinémico, síndrome de Ehlers-Danlos-Syndrom mit Fibronektin-Mangel Ehlers-Danlos-Syndrom mit Thrombozyten-Dysfunktion bei Fibronektin-Anomalie Ehlers-Danlos-Syndrom, dysfibronektinämischer Typ SED X SED X SED de tipo 10 Sindrome di Ehlers-Danlos con deficit di fibronectina Sindrome di Ehlers-Danlos con disfunzione piastrinica da anomalia della fibronectina Syndrome d'Ehlers-Danlos avec dysfonctionnement plaquettaire par anomalie de la fibronectine Syndrome d'Ehlers-Danlos type 10 Síndrome de Ehlers-Danlos com disfunção plaquetária por anomalias da fibronectina Síndrome de Ehlers-Danlos con disfunción plaquetaria por anomalía de la fibronectina Síndrome de Ehlers-Danlos fibronectina-deficiente Síndrome de Ehlers-Danlos tipo fibronectinémico Síndrome de Ehlers-Danlos, deficiente en fibronectina Ehlers-Danlos syndrome, fibronectinemic type Ehlers-Danlos-Syndrom Typ 10 Sindrome di Ehlers-Danlos, tipo 10 Syndrome d'Ehlers-Danlos avec déficit en fibronectine Síndrome de Ehlers-Danlos tipo 10 Síndrome de Ehlers-Danlos tipo 10 hrdo:pat_id_11086 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Servelle+Martorell 75508 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Servelle-Martorell syndrome Servelle-Martorell, síndrome de Servelle-Martorell-Syndrom Sindrome di Servelle-Martorell Syndrome de Servelle-Martorell Síndrome de Servelle-Martorell Síndrome de Servelle-Martorell Angio-osteo-hypotrophisches Syndrom Angio-osteohypotrophic syndrome Sindrome angio-osteoipotrofica Syndrome angio-ostéohypotrophique Síndrome angio-osteo-hipotrófico Síndrome angio-osteo-hipotrófico hrdo:pat_id_11087 Variabel Variabile Variable Variable Variable Variable Variável 300751 C536761 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Sideroblastic+anemia%5Bti%5D+OR+Sideroblastic+anemia%5Bmh%5D)+(X+linked%5Btw%5D) D64.0 75563 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anemia sideroblastica sensibile alla piridossina Anemia sideroblástica que responde a la piridoxina Anémie sidéroblastique pyridoxine-sensible Pyridoxine-responsive sideroblastic anemia Anemia sideroblastica legata all'X Anemia sideroblástica ligada al cromosoma X Anemia sideroblástica ligada ao X Anämie, sideroachrestische, X-chromosomale Anémie sidéroblastique liée à l'X X-linked sideroblastic anemia hrdo:pat_id_11088 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Sideroblastic+anemia%5Bti%5D+OR+Sideroblastic+anemia%5Bmh%5D)+(acquired+idiopathic) D64.3 75564 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 AISA AISA AISA AISA AISA ASAI ASIA Anemia refractaria con sideroblastos en anillo Anemia refractária com sideroblastos anelares Anemia refrattaria con sideroblasti ad anello Anemia refratária com sideroblastos anelares Anemia sideroblastica acquisita primitiva Anemia sideroblástica primaria adquirida Anämie, sideroblastische, erworbene primäre Anémie réfractaire avec sidéroblastes en couronne Anémie sidéroblastique primaire acquise Primary acquired sideroblastic anemia RARS RARS RARS RARS Refractory anemia with ringed sideroblasts Refraktäre Anämie mit Ringsideroblasten Acquired idiopathic sideroblastic anemia Anemia sideroblastica idiopatica acquisita Anemia sideroblástica idiopática adquirida Anemia sideroblástica idiopática adquirida Anämie, sideroachrestische, erworbene idiopathische Anémie sidéroblastique idiopathique acquise hrdo:pat_id_11089 Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Tropical+endomyocardial+fibrosis%5Bti%5D+OR+Endomyocardial+Fibrosis%5Bmh%5D I42.3 75565 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Davies disease Davies, doença de Davies-Krankheit Doença de Davies Enfermedad de Davies FEM tropical Maladie de Davies Malattia di Davies TEMF TEMF TEMF TEMF Endomyokardfibrose, tropische Fibrose endomiocárdica tropical Fibrose endomyocardique tropicale Fibrosi endomiocardica tropicale Fibrosis endomiocárdica tropical Tropical endomyocardial fibrosis hrdo:pat_id_11090 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 10052841 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Loeffler's+endocarditis%5Btw%5D+OR+Loeffler+endocarditis%5Btw%5D I42.3 75566 C0206143 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Endocardite eosinofila Endocardite eosínofílica Endocardite à éosinophiles Endocarditis eosinofílica Endokarditis, eosinophile Eosinophilic endocarditis Endocardite de Loeffler Endocardite de Loeffler Endocardite di Loeffler Endocarditis de Loeffler Loeffler's endocarditis Löffler-Endokarditis hrdo:pat_id_11091 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Primary+progressive+freezing+gait 75567 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Acinésia súbita primária progressiva Blocco motorio primitivo progressivo Congelación progresiva y primaria del movimiento de la marcha Freezing progressif primaire de la marche Primary progressive freezing gait Primäre fortschreitende Erstarrung der Gehbewegung hrdo:pat_id_11092 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q80.8 75789 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Trichothiodystrophie - Osteosklerose Trichothiodystrophie - ostéosclérose Trichothiodystrophy - osteosclerosis Tricotiodistrofia - osteosclerose Tricotiodistrofia - osteosclerosi SIBIDS syndrome SIBIDS-Syndrom Sindrome SIBIDS Syndrome SIBIDS Síndrome SIBIDS Síndrome SIBIDS hrdo:pat_id_11093 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 275550 neant L67.8 75790 238736006 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome da tricoressi nodosa Syndrome trichorrhexis nodosa Síndrome Tricorrexis nodosa Síndrome de tricorrexis nodosa Trichorrhexis nodosa syndrome Trichorrhexis nodosa-Syndrom Trichothiodystrophie - Neurokutanes Syndrom Trichothiodystrophie - syndrome neurocutané Trichothiodystrophie Typ C Trichothiodystrophy - neurocutaneous syndrome Trichothiodystrophy type C Tricorrexis nodosa, síndrome Tricotiodistrofia - sindrome neurocutanea Tricotiodistrofia - síndrome neurocutâneo Tricotiodistrofia tipo C Tricotiodistrofia, tipo C Pollitt syndrome Pollitt-Syndrom Sindrome di Pollitt Syndrome de Pollitt Síndrome de Pollit Síndrome de Pollitt hrdo:pat_id_11094 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 254090 neant G71.2 75840 240062007 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Distrofia muscolare scleroatonica Distrofia muscular escleroatónica Distrofia muscular escleroatónica Doença de Ullrich Dystrophie musculaire scléro-atonique Enfermedad de Ullrich Maladie d'Ullrich Malattia di Ullrich Muskeldystrophie, sklero-atonische Scleroatonic muscular dystrophy UCMD Ullrich disease Ullrich, doença de Ullrich-CMD (UCMD) Congenital muscular dystrophy, Ullrich type Distrofia muscolare congenita di Ullrich Distrofia muscular congénita de Ullrich Distrofia muscular congénita de Ullrich Dystrophie musculaire congénitale d'Ullrich Muskeldystrophie, kongenitale, Typ Ullrich hrdo:pat_id_11095 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q93.5 75857 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 6q terminal deletion Deleción terminal 6q Delezione terminale di 6q Deleção terminal 6q Délétion 6q terminale Terminale 6q-Deletion hrdo:pat_id_11096 C536984 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=MORM+syndrome 75858 C1857802 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficit cognitivo - obesità del tronco - distrofia retinica - micropene Déficit intelectual - obesidad troncular - distrofia retiniana - micropene Déficit intellectuel - obésité du tronc - dystrophie rétinienne - micropénis Geistige Retardierung - stammbetonte Adipositas - Netzhautdystrophie - Mikropenis Intellectual deficit - truncal obesity - retinal dystrophy - micropenis Mental retardation - truncal obesity - retinal dystrophy - micropenis Retar mental - obésité du tronc - dystrophie rétinienne - micropénis Ritardo mentale - obesità del tronco - distrofia retinica - micropene MORM syndrome MORM-Syndrom Sindrome MORM Syndrome MORM Síndrome MORM Síndrome MORM hrdo:pat_id_11097 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(lymphedema%5Bti%5D+OR+lymphedema%5Bmajr%5D)+(humans+OR+patients)+NOT+syndrome I89.0 77240 group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Malformación troncular linfática Malformation lymphatique tronculaire Malformazione linfatica tronculare Troncular lymphatic malformation Trunkuläre lymphatische Fehlbildung Linfedema primario Linfedema primitivo Linfedema primário (termo genérico) Lymphoedème primaire Primary lymphedema Primary lymphedema hrdo:pat_id_11098 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 10054461 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Lymphoedema+praecox%5Btw%5D+OR+Lymphedema+precox%5Btw%5D+OR+Lymphedema+praecox%5Btw%5D I89.0 77241 77123007 C0238261 malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Linfedema praecox Linfedema precoce Linfedema precoce Lymphedema praecox Lymphoedema praecox Lymphoedème précoce hrdo:pat_id_11099 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Lymphedema+tarda%5Btw%5D+OR+late+onset+lymphedema%5Btw%5D+OR+(lymphedema%5Bmajr%5D+age+of+onset+(Middle+Aged+OR+aged)) I89.0 77242 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Linfedema tardio Linfedema tardo Linfedema tardío Lymphedema tarda Lymphoedema tardum Lymphoedème tardif hrdo:pat_id_11100 614103 10063955 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Lipoedema E65 77243 234102003 C0398370 disease Lipedema Lipedema Lipoedema Lipoedema Lipoedème Lipödem hrdo:pat_id_11101 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 190350 190351 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Trichorhinophalangeal+NOT+(type+ii%5Btw%5D+OR+type+2%5Btw%5D) Q87.1 77258 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome trico-rino-falangea, tipo 1 e 3 Syndrome tricho-rhino-phalangien types 1 et 3 Síndrome trico-rino-falangico tipos 1 e 3 Síndrome tricorrinofalángico tipos 1 y 3 Tricho-rhino-phalangeales Syndrom Typ 1 und 3 Trichorhinophalangeal syndrome type 1 and 3 hrdo:pat_id_11102 Variabel Variabile Variable Variable Variable Variable Variável 230800 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Gaucher+disease+(%22type+i%22+OR+%22non+neuronopathic%22+OR+nonneuronopathic) E75.2 77259 62201009 C1961835 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Doença de Gaucher não-cerebral juvenil Enfermedad de Gaucher juvenil no cerebral Gaucher não-cerebral juvenil, doença de Gaucher-Krankheit, nicht-neuronopathischer Typ Maladie de Gaucher non-cérébrale juvénile Malattia di Gaucher, tipo non cerebrale giovanile Noncerebral juvenile Gaucher disease Doença de Gaucher tipo 1 Enfermedad de Gaucher tipo 1 Gaucher disease type 1 Gaucher-Krankheit Typ 1 Maladie de Gaucher type 1 Malattia di Gaucher, tipo 1 hrdo:pat_id_11103 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 230900 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Gaucher+disease+(%22type+ii%22+OR+%22acute+neuronopathic%22) E75.2 77260 12246008 C0268250 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acute neuronopathic Gaucher disease Doença de Gaucher tipo agudo neuronopático Gaucher cerebral infantil Gaucher tipo agudo neuronopático, doença de Gaucher-Krankheit, akut-neuronopathischer Typ Gaucher-Krankheit, infantile, zerebrale Form Infantile cerebral Gaucher disease Maladie de Gaucher cérébrale infantile Maladie de Gaucher neuronopathique aiguë Malattia acuta di Gaucher, tipo neuropatico Malattia di Gaucher, tipo infantile cerebrale Doença de Gaucher tipo 2 Enfermedad de Gaucher tipo 2 Gaucher disease type 2 Gaucher-Krankheit Typ 2 Maladie de Gaucher type 2 Malattia di Gaucher, tipo 2 hrdo:pat_id_11104 Variabel Variabile Variable Variable Variable Variable Variável 231000 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Gaucher+disease+(%22type+iii%22+OR+Norrbottnian+OR+%22chronic+neuronopathic%22+OR+%22subacute+neuronopathic%22) E75.2 77261 5963005 C0268251 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cerebral juvenile and adult form of Gaucher disease Chronic neuronopathic Gaucher disease Doença de Gaucher cerebral juvenil e adulta Doença de Gaucher tipo crónico neuronopático Doença de Gaucher tipo subagudo neuronopático Gaucher cerebral juvenil e adulta, doença de Gaucher disease, subacute neuronopathic type Gaucher tipo crónico neuronopático, doença de Gaucher tipo subagudo neuronopático, doença de Gaucher-Krankheit, chronisch-neuropathische Form Gaucher-Krankheit, juvenile und adulte, zerebrale Form Gaucher-Krankheit, subakut-neuropathische Form Maladie de Gaucher cérébrale juvénile et de l'adulte Maladie de Gaucher neuronopathique chronique Maladie de Gaucher neuronopathique subaiguë Malattia cronica di Gaucher, tipo neuropatico Malattia di Gaucher, tipo cerebrale, giovanile e adulto Malattia subacuta di Gaucher, tipo neuronopatico Doença de Gaucher tipo 3 Enfermedad de Gaucher tipo 3 Gaucher disease type 3 Gaucher-Krankheit Typ 3 Maladie de Gaucher type 3 Malattia di Gaucher, tipo 3 hrdo:pat_id_11105 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 257200 D052536 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Niemann+Pick+Disease,+Type+A+OR+%22Niemann+Pick+A%22+OR+(Niemann+Pick%5Bti%5D+type+A%5Btw%5D) E75.2 77292 52165006 C0268242 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Doença de Niemann-Pick tipo A Enfermedad de Niemann-Pick tipo A Maladie de Niemann-Pick type A Malattia di Niemann-Pick, tipo A Niemann-Pick disease type A Niemann-Pick-Krankheit Typ A hrdo:pat_id_11106 Adulte jeune Adultos jóvenes Giovani adulti Jovem adulto Junge Erwachsene Young adult Young adult Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 607616 D052537 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Niemann+Pick+Disease,+Type+B+OR+Niemann+Pick+b*%5Btw%5D+OR+(Niemann+Pick%5Bti%5D+(type+b*%5Btw%5D+OR+type+E%5Bti%5D+OR+type+F%5Bti%5D)) E75.2 77293 39390005 C0268243 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Doença de Niemann-Pick tipo B Enfermedad de Niemann-Pick tipo B Maladie de Niemann-Pick type B Malattia di Niemann-Pick, tipo B Niemann-Pick disease type B Niemann-Pick-Krankheit Typ B hrdo:pat_id_11107 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 607694 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Leukodystrophy+oligodontia E75.2 K00.0 77295 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dento-Leukoenzephalopathie Dento-leuco-encéphalopathie Dento-leucoencefalopatia Dentoleucoencefalopatia Dentoleukoencephalopathy Dentoleukoenzephalopathie Leucodistrofia con oligodontia Leucodistrofia con oligodontia Leucodystrophie - oligodontie Leukodystrophie mit Oligodontie Leukodystrophy with oligodontia Leucodistrofia com oligodontia Odonto-leucodystrophie Odontoleucodistrofia Odontoleucodistrofia Odontoleukodystrophie Odontoleukodystrophy hrdo:pat_id_11108 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 144800 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Morgagni%5Btw%5D+Morel%5Btw%5D+OR+(Hyperostosis+Frontalis+Interna) M85.2 77296 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hiperostose frontal interna Hyperostose frontale interne Hyperostosis frontalis interna Hyperostosis frontalis interna Iperostosi frontale interna Morgagni-Stewart-Morel syndrome Sindrome di Morgagni-Stewart-Morel Stewart-Morel-Morgagni-Syndrom Syndrome de Morgagni-Stewart-Morel Síndrome de Morgnagni-Stewart-Morel Síndrome de Morgnagni-Stewart-Morel hrdo:pat_id_11109 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 609628 C537839 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Majeed%5Btw%5D+syndrome 77297 C1864997 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Chronic recurrent multifocal osteomyelitis - congenital dyserythropoietic anemia - neutrophilic dermatosis Osteomielite cronica ricorrente multifocale - anemia diseritropoietica congenita - dermatosi neutrofila Osteomielite multifocal recorrente crónica - anemia diseritropoiética congénita - dermatose neutrofílica Osteomyelitis, chronische multifokale rezidivierende - kongenitale dyserythropoetische Anämie - neutrophile Dermatose Ostéomyélite multifocale récurrente chronique - anémie dysérythropoïétique congénitale - dermatose neutrophile Majeed syndrome Majeed-Syndrom Sindrome di Majeed Syndrome de Majeed Síndrome de Majeed Síndrome de Majeed hrdo:pat_id_11110 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 206900 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(anophthalmia+OR+microphthalmia)+esophageal+atresia Q87.8 77298 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 MCOPS3 MCOPS3 MCOPS3 MCOPS3 Microftalmia sindromica, tipo 3 Microftalmia sindrómica tipo 3 Microphtalmie syndromique type 3 Mikrophthalmie, syndromale, Typ 3 Syndromic microphthalmia type 3 Anoftalmia/microftalmia - atresia esofagea Anoftalmia/microftalmia - atresia esofágica Anoftalmia/microftalmia - atresia esofágica Anophtalmie/microphtalmie - atrésie de l'oesophage Anophthalmia/microphthalmia - esophageal atresia Anophthalmie/Mikrophthalmie - Ösophagusatresie hrdo:pat_id_11111 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 611222 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=microphthalmia+blindness+spasticity+microcephaly+seizures+mental+retardation Q11.2 77299 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 MCOPS10 MCOPS10 MOBA syndrome MOBA, síndrome MOBA-Syndrom Microphtalmie syndromique type 10 Sindrome MOBA Syndrome MOBA Syndromic microphthalmia type 10 Síndrome MOBA Síndrome MOBA Microftalmia - atrofia cerebral Microftalmia - atrofia cerebral Microftalmia - atrofia cerebrale Microphtalmie - atrophie cérébrale Microphthalmia - brain atrophy Mikrophthalmie - Hirnatrophie hrdo:pat_id_11112 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(%22ear+abnormalities%22+OR+ear%2Fab%5Bmajr%5D+OR+%22auricular+abnormalities%22)+cleft+lip+Ocular+Motility+Disorders Q87.0 77300 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anomalias auriculares - fenda labial com/sem fenda do palato - anomalias oculares Anomalie auricolari - labioschisi con o senza palatoschisi - anomalie oculari Anomalies auriculaires - fente labiale ou labio-palatine - anomalies oculaires Anomalías auriculares - fisura labial con o sin fisura palatina - anomalías oculares Auricular abnormalities - cleft lip with or without cleft palate - ocular abnormalities Ohrenanomalien - Lippen-Kiefer-Gaumenspalte - Augenanomalien hrdo:pat_id_11113 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=%229q22.3%22+(microdeletion%5Bti%5D+OR+deletion%5Bti%5D) Q93.5 77301 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Microdeletion 9q22.3 Microdelezione 9q22.3 Microdélétion 9q22.3 Microdeleción 9q22.3 Microdeleção 9q22.3 Mikrodeletion 9q22.3 Monosomia 9q22.3 Monosomie 9q22.3 Monosomy 9q22.3 hrdo:pat_id_11114 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 610332 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(%22mandibular+hypoplasia%22+%22orofacial+clefting%22)+OR+(oculo+oto+facial+dysplasia)+OR+(choanal+atresia%5Bmajr%5D+deafness+eye+NOT+charge%5Bti%5D) Q87.0 77302 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia oculo-oto-facial Displasia oculo-oto-faciale Displasia óculo-oto-facial Dysplasie oculo-oto-faciale Dysplasie, okulo-oto-faziale Oculo-oto-facial dysplasia hrdo:pat_id_11115 Variabel Variabile Variable Variable Variable Variable Variável 613493 613495 613496 614699 614700 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Antigens,+CD19%2Fge+hypogammaglobulinemia D83.0 77303 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo etiological subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CVID da difetto intrinseco delle cellule B CVID due to an intrinsic B cell defect CVID durch intrinsischen B-Zell-Defekt CVID dû à un défaut intrinsèque des cellules B CVID por defecto intrínseco de las células B Common variable immunodeficiency due to an intrinsic B cell defect Déficit immunitaire commun variable dû à un défaut intrinsèque des cellules B Hipogamaglobulinemia por deficiência de CD19 Immundefekt, allgemeiner variabler, durch intrinsischen B-Zell-Defekt Immunodeficienza variabile comune da difetto intrinseco delle cellule B Inmunodeficiencia común variable por defecto intrínseco de las células B hrdo:pat_id_11116 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=small+vessel+disease+Chabriat+Verreault F01.1 I67.8 77304 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 'Small vessel disease' des Gehirns ohne Beziehung zu NOTCH3 Ateriopatía diabética del cerebro, no relacionada con NOTCH3 Doença dos pequenos vasos do cérebro não relacionada com o NOTCH3 Maladie des petits vaisseaux cérébraux, non liée à NOTCH3 Malattia dei piccoli vasi cerebrali non associata a NOTCH3 Not NOTCH3-related small vessel disease of the brain hrdo:pat_id_11118 neant E66.8 77828 group of phenomes Adipositas, genetisch bedingte Genetic obesity Obesidad, genética Obesidade, genética Obesità genetica Obésité génétique hrdo:pat_id_11120 77830 group of phenomes Doença odontológica, genética, rara Enfermedad odontológica, genética, rara Maladie odontologique génétique rare Malattia odontoiatrica genetica rara Odontologische Krankheit, genetisch bedingte, seltene Rare genetic odontologic disease hrdo:pat_id_11123 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300209 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Golabi%5Btiab%5D+Behmel%5Btiab%5D)+(severe%5Bti%5D+OR+lethal%5Bti%5D)+OR+(mental+retardation%5Bti%5D+macrocephaly%5Bti%5D+oral+facial+digital%5Bti%5D) Q87.3 79022 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Lethal variant of Simpson-Golabi-Behmel syndrome SGBS2 SGBS2 SGBS2 SGBS2 Simpson-Golabi-Behmel, forma letal, síndrome de Simpson-Golabi-Behmel-Syndrom, letale Form Sindrome di Simpson-Golabi-Behmel, forma letale Syndrome de Simpson-Golabi-Behmel létal Síndrome de Simpson-Golabi-Behmel, forma letal Simpson-Golabi-Behmel syndrome type 2 Simpson-Golabi-Behmel-Syndrom Typ 2 Sindrome di Simpson-Golabi-Behmel, tipo 2 Syndrome de Simpson-Golabi-Behmel type 2 Síndrome de Simpson-Golabi-Behmel tipo 2 Síndrome de Simpson-Golabi-Behmel tipo 2 hrdo:pat_id_11124 79062 group of phenomes Aminosäure/organische Säuren-Stoffwechselstörung Difetto del metabolismo degli aminoacidi o di altri acidi organici Disorder of amino acid and other organic acid metabolism Doença do metabolismo dos aminoácidos ou proteínas Trastornos del metabolismo de los aminoácidos y otros ácidos orgánicos Trouble du métabolisme des acides aminés et autres acides organiques hrdo:pat_id_11125 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 612242 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(infant%5Bmh%5D+OR+infancy%5Btw%5D)+juvenile%5Btw%5D+(gastrointestinal+polyposis%5Btw%5D+OR+intestinal+polyposis)+NOT+(Adult+OR+aged) D12.6 79076 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Infantile juvenile polyposis syndrome Polipose juvenil forma infantil, síndrome Polypose, juvenile, infantile Form Síndrome de poliposis juvenil, forma infantil Síndrome polipose juvenil forma infantil Juvenile polyposis of infancy Polipose juvenil infantil Poliposi infantile e giovanile Poliposis juvenil de la infancia Polypose juvénile infantile Polyposis-Syndrom, juveniles, frühkindliche Form hrdo:pat_id_11126 Variabel Variabile Variable Variable Variable Variable Variável D008882 10051457 10052317 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Mikulicz+disease%5Bti%5D+OR+Mikulicz's+disease%5Bti%5D+OR+Mikulicz'+Disease%5Bmajr%5D K11.8 79078 7826003 C0026103 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Chronic dacryoadenitis and sialoadenitis Dacrioadenitis y sialoadenitis crónicas Dacrioadenitis y sialoadenitis relacionadas con IgG4 Dacryoadénite et sialadénite associées aux IgG4 Dacryoadénite et sialadénite chroniques IgG4-related dacryoadenitis and sialoadenitis Doença de Mickulicz Enfermedad de Mikulicz Maladie de Mikulicz Malattia di Mickulicz Mikulicz disease Mikulicz-Krankheit hrdo:pat_id_11127 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 604367 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Lipodystrophy,+familial+partial+OR+(diabetes+hypertension+lipodystrophy))+(%22PPARG%22+OR+PPAR+gamma%5Btiab%5D+OR+PPAR+gamma%2Fge) E88.1 79083 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 FPLD3 FPLD3 FPLD3 Familial partial lipodystrophy type 3 LDPF3 Lipodistrofia familiar parcial, tipo 3 Lipodistrofia parcial familiar tipo 3 (FPLD1) Lipodistrofia parziale familiare, tipo 3 Lipodystrophie partielle familiale type 3 Lipodystrophie, familiäre partielle, Typ 3 (FPLD3) Familial partial lipodystrophy associated with PPARG mutations Lipodistrofia familiar parcial asociada con mutaciones en PPARG Lipodistrofia parcial familiar associada a mutações em PPARG Lipodistrofia parziale familiare associata a mutazioni di PPARG Lipodystrophie partielle familiale associée à des mutations de PPARG Lipodystrophie, familiäre partielle, assoziiert mit PPARG-Genmutation hrdo:pat_id_11128 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 608600 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Lipodystrophy+Kobberling E88.1 79084 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 FPLD1 FPLD1 FPLD1 Familial partial lipodystrophy type 1 LDPF1 Lipodistrofia familiar parcial, tipo 1 Lipodistrofia parcial familiar tipo 1 (FPLD1) Lipodistrofia parziale familiare, tipo 1 Lipodystrophie partielle familiale type 1 Lipodystrophie, familiäre partielle, Typ 1 (FPLD1) Familial partial lipodystrophy, Köbberling type Lipodistrofia familiar parcial, tipo Köbberling Lipodistrofia parcial familiar tipo Köbberling Lipodistrofia parziale familiare, tipo Köbberling Lipodystrophie partielle familiale type Köbberling Lipodystrophie, familiäre partielle, Typ Köbberling hrdo:pat_id_11129 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(lipodystrophy+OR+(insulin+resistance+diabetes+(adipocytes+OR+adipose+tissue)))+AKT2 E88.1 79085 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Familial partial lipodystrophy due to AKT2 mutations Lipodistrofia familiar parcial por mutaciones en AKT2 Lipodistrofia familiare parziale da mutazioni di AKT2 Lipodistrofia parcial familiar por mutações em AKT2 Lipodystrophie partielle familiale due à des mutations d'AKT2 Lipodystrophie, familiäre partielle, infolge AKT2-Genmutation hrdo:pat_id_11130 Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=%22acquired+generalized+lipodystrophy%22+OR+%22Lawrence+syndrome%22+OR+(Acquired%5Bti%5D+generalized%5Bti%5D+lipoatrophy%5Bti%5D) E88.1 79086 86907008 C0271693 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acquired lipoatrophic diabetes Diabete lipoatrofico acquisito Diabetes lipoatrófica adquirida Diabetes lipoatrófica adquirida Diabetes, erworbener lipoatrophischer Diabète lipoatrophique acquis Lawrence syndrome Lawrence, síndrome de Lawrence-Seip syndrome Lawrence-Syndrom Sindrome di Lawrence Sindrome di Lawrence-Seip Syndrome de Lawrence Syndrome de Lawrence-Seip Síndrome de Lawrence Síndrome de Lawrence Acquired generalized lipodystrophy Lipodistrofia generalizada adquirida Lipodistrofia generalizada adquirida Lipodistrofia generalizzata acquisita Lipodystrophie généralisée acquise Lipodystrophie, erworbene generalisierte hrdo:pat_id_11131 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 608709 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=%22acquired+partial+lipodystrophy%22+OR+Barraquer+Simons%5Btw%5D E88.1 79087 75659004 C0220989 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Barraquer-Simons syndrome Barraquer-Simons, síndrome de Barraquer-Simons-Syndrom Lipodistrofia cefalotoracica progressiva Lipodistrofia cefalotorácica progresiva Lipodystrophie céphalothoracique progressive Lipodystrophie, cephalo-thorakale progressive Progressive cephalothoracic lipodystrophy Sindrome di Barraquer-Simons Syndrome de Barraquer-Simons Síndrome de Barraquer-Simons Síndrome de Barraquer-Simons Lipodistrofia parcial adquirida Lipodistrofia parcial adquirida Lipodistrofia parziale acquisita Lipodystrophie partielle acquise Lipodystrophie, partielle erworbene Partial acquired lipodystrophy hrdo:pat_id_11132 Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=%22localized+lipodystrophy%22+OR+%22localized+lipoatrophy%22+OR+(localized%5Bti%5D+(lipodystroph*%5Bti%5D+OR+lipoatroph*%5Bti%5D)) E88.1 79088 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Lipodistrofia localizada Lipodistrofias localizadas Lipodistrofie localizzate Lipodystrophie localisée Lipodystrophie, lokale Localized lipodystrophy hrdo:pat_id_11134 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 605637 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=myopathy+ophthalmoplegia+(inclusion+body+joint+contracture+OR+(myosin+heavy+chain)) G71.8 79091 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Einschlusskörperchenmyopathie Typ 3 (IBM3) HIBM3 HIBM3 HIBM3 Hereditary inclusion body myopathy type 3 IBM3 IBM3 Inclusion body myopathy type 3 Miopatia com corpos de inclusão tipo 3 (IBM3) Miopatia da corpi inclusi, tipo 3 Miopatía con cuerpos de inclusión, tipo 3 Miopatía hereditaria con cuerpos de inclusión tipo 3 Myopathie à corps d'inclusion type 3 Myopathie à corps d'inclusions héréditaire type 3 Myopathie à inclusions héréditaire type 3 Myopathie à inclusions héréditaire- contractures articulaires - ophtalmoplégie Myopathie à inclusions type 3 Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia Hereditäre Einschlusskörperchenmyopathie - Gelenkskontrakturen - Ophthalmoplegie Miopatia com corpos de inclusão hereditária - artrogripose - oftalmoplegia Miopatia ereditaria da corpi inclusi - contratture articolari - oftalmoplegia Miopatía hereditaria de cuerpos de inclusión - contracturas de las articulaciones - oftalmoplejía Myopathie à corps d'inclusions héréditaire- contractures articulaires - ophtalmoplégie hrdo:pat_id_11135 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=%22Foix+Alajouanine+syndrome%22+OR+(subacute+(ascending+myelitis%5Btw%5D+OR+ascending+myelopathy%5Btw%5D)) G37.4 79093 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Angiodysgenetic necrotizing myelopathy Artérioveineuse spinale, malformation Fehlbildung, arteriovenöse spinale Malformazione arterovenosa spinale Malformação arterio-venosa espinal Mielite necrotizante sub-aguda Mielite necrotizante sub-aguda ascendente Mielite necrotizzante subacuta Mielite subacuta ascendente necrotizzante Mielomalacia angioipertrofica subacuta Mielomalácia angio-hipertrófica sub-aguda Mielopatia angiodisgenetica necrotizzante Mielopatia necrotizante angiodisgénica Myelitis, aufsteigende nekrotisierende subakute Myelomalazie, angiohypertrophische subakute Myelopathie, angiodysgenetische nekrotisierende Myélite ascendante nécrosante sub-aiguë Myélopathie nécrotique subaiguë Nekrotisierende Myelitis, subakute Névrite nécrotique subaiguë Spinal arteriovenous malformation Subacute angiohypertrophic myelomalacia Subacute ascending necrotizing myelitis Subacute necrotizing myelitis Subakute aufsteigende nekrotisierende Myelitis   Foix-Alajouanine syndrome Foix-Alajouanine-Syndrom Sindrome di Foix-Alajouanine Syndrome de Foix-Alajouanine Síndrome de Foix-Alajouanine Síndrome de Foix-Alajouanine hrdo:pat_id_11136 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 602531 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=%22Grange+syndrome%22+OR+hypertension+Grange+occlusive+arterial Q87.8 79094 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Arterial oclusiva progressiva, doença - hipertensão - cardiopatia - fragilidade óssea - braquissindactilia Arterielle Verschlusskrankheit Typ Grange Arterielle Verschlusskrankheit, progressive - Hypertension - Herzfehler - Knochenfragilität - Brachysyndaktyly Doença arterial oclusiva progressiva - hipertensão - cardiopatia - fragilidade óssea - braquissindactilia Grange occlusive arterial syndrome Grange, syndrome d'occlusion artérielle de Occlusion artérielle progressive - hypertension - malformations cardiaques - fragilité osseuse - brachysyndactylie Occlusione arteriosa progressiva - ipertensione - malformazioni cardiache - fragilità ossea - brachisindattilia Oclusivo arterial de Grange, síndrome Progressive arterial occlusive disease - hypertension - heart defects - bone fragility - brachysyndactyly Sindrome da occlusione arteriosa di Grange Síndrome de arterial oclusivo de Grange Síndrome oclusivo arterial de Grange Grange syndrome Grange-Syndrom Sindrome di Grange Syndrome de Grange Síndrome de Grange Síndrome de Grange hrdo:pat_id_11137 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 214950 614307 C535444 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Liver+disease+retinitis+polyneuropathy+OR+alpha+methylacyl+CoA+racemase+deficiency%5Btw%5D+OR+AMACR+deficiency%5Btw%5D K76.8 79095 C1858328 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 2-methylacyl-CoA racemase deficiency AMACR deficiency Alfa-metil-acil-coA racemase, deficiência de Alpha-Methylacyl-CoA-Racemase-Mangel Alpha-methyl-acyl-CoA racemase deficiency Deficiência de alfa-metil-acil-coA racemase Déficit en 2-méthylacyl-CoA racémase Déficit en AMACR Déficit en alpha-méthylacyl-CoA racémase Liver disease - retinitis pigmentosa - polyneuropathy - epilepsy Congenital bile acid synthesis defect type 4 Difetto congenito della sintesi degli acidi biliari, tipo 4 Déficit congénital de synthèse des acides biliaires type 4 Déficit congénito de síntesis de ácidos biliares, tipo 4 Gallensäuresynthesedefekt, kongenitaler, Typ 4 Hepatopatia - retinite pigmentar - polineuropatia - epilepsia hrdo:pat_id_11138 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 610090 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Pyridoxal+phosphate%5Btw%5D+responsive+OR+((newborn+OR+neonat*)+Pyridoxal+phosphate%5Bmh%5D)+epilepsy G40.8 79096 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Convulsioni dipendenti dal piridossale-fosfato Deficit di PNPO Deficit di piridossamina 5'-fosfato ossidasi Deficit di piridossamina 5'-ossidasi Déficit en PNPO Déficit en pyridoxamine 5'-oxidase Déficit en pyridoxamine 5'-phosphate oxidase Encefalopatia epilettica neonatale associata a PNPO Encéphalopathie épileptique néonatale associée à PNPO PNPO deficiency PNPO-Mangel PNPO-abhängige neonatale epileptische Enzephalopathie PNPO-related neonatal epileptic encephalopathy Pyridoxa-phosphate dependent seizures Pyridoxal-Phosphat-abhängige Krämpfe Pyridoxamine 5'-oxidase deficiency Pyridoxamine 5'-phosphate oxidase deficiency Pyridoxamine 5´-Oxidase-Mangel Convulsiones sensibles al piridoxal fosfato Convulsioni sensibili al piridossale fosfato Convulsions sensibles au pyridoxal phosphate Epilepsia sensível ao piridoxal-fosfato Epilepsie, Pyridoxal-Phosphat-abhängige Pyridoxal phosphate-responsive seizures hrdo:pat_id_11139 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(folinic+acid%5Btw%5D+responsive+OR+((infant+OR+newborn+OR+neonat*)+Leucovorin%5Bmh%5D))+(epilepsy+OR+seizures+OR+neurologic+diseases%5Btw%5D) 79097 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Convulsiones sensibles al ácido folínico Convulsioni sensibili all'acido folinico Convulsions sensibles à l'acide folinique Epilepsia sensível ao ácido folínico Folinic acid-responsive seizures Folinsäureabhängige Anfälle hrdo:pat_id_1114 613792 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=((chromosome+3+(monosomy%5Bmh%5D)+OR+deletion%5Bti%5D+OR+monosom*%5Bti%5D+OR+loss%5Bti%5D)+3p%5Bti%5D)+NOT+(trisomy+3p%5Bti%5D+OR+interstitial%5Bti%5D) Q93.5 1620 malformation syndrome Delezione 3p distale Distal 3p deletion Délétion distale 3p Délétion télomérique 3p Monosomia 3p telomerica Monosomia 3pter Monosomie 3p25 Monosomie 3pter Monosomy 3pter Monosomía 3p25 Monossomia 3p25 Telomeric monosomy 3p Deleción 3p25 Deletion 3p25 Deleção 3p25 Distal monosomy 3p Monosomia 3p distale Monosomie distale 3p hrdo:pat_id_11140 Variabel Variabile Variable Variable Variable Variable Variável D009879 10042742 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Sympathetic+ophthalmia%5Bti%5D+OR+Ophthalmia,+Sympathetic%5Bmh%5D H44.1 79098 75315001 C0029077 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Sympathetic uveitis Uveite simpatica Uveitis, sympathische Uveítis simpática Uvéite sympathique Oftalmia simpatica Oftalmia simpática Oftalmia simpática Ophtalmie sympathique Sympathetic ophthalmia Sympathische Ophthalmie hrdo:pat_id_11141 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Interstitial+(granulomatous+dermatitis%5Btw%5D)+(arthritis+OR+Ackerman%5Btw%5D) 79099 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Ackerman dermatitis syndrome Dermatite d'Ackerman Dermatite de Ackerman, síndrome de Dermatite di Ackerman Dermatitis, granulomatöse, Typ Ackerman IGDA IGDA IGDA IGDA IGDA Síndrome de Ackerman, dermatitis Síndrome de dermatite de Ackerman Dermatite granulomateuse interstitielle - arthrite Dermatite granulomatosa intersticial com artrite Dermatite granulomatosa interstiziale con artrite Dermatitis granulomatosa intersticial con artritis Dermatitis, granulomatöse interstitielle mit Arthritis Interstitial granulomatous dermatitis with arthritis hrdo:pat_id_11142 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 209700 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Atrophoderma+(vermiculata+OR+vermiculatum)+OR+(Honeycomb+atrophy%5Btw%5D+skin)+OR+(Folliculitis+ulerythematosa+reticulata%5Btw%5D) L66.4 79100 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Foliculite uleritematosa reticulada Foliculitis uleritematosa reticulada Follicolite uleritematosa reticolata Folliculite ulérythémateuse réticulée Folliculitis ulerythematosa reticulata Folliculitis ulerythematosa reticulate Atrofia cutanea vermicolare Atrofodermia vermiculada Atrofodermia vermiculada Atrophoderma vermiculata Atrophodermia vermiculata Atrophodermie vermiculée hrdo:pat_id_11143 Variabel Variabile Variable Variable Variable Variable Variável 239510 C538385 10058512 10058514 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=GGS+Dehydrogenase%2Fdf+OR+hyperprolinemia+type+ii%5Btw%5D+OR+type+ii+hyperprolinemia%5Btw%5D E72.5 79101 124177001 C0268530 C2931835 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficiencia de delta 1-pirrolina-5-carboxilato deshidrogenasa Deficit di delta1-pirrolina-5-carbossilato deidrogenasi Deficiência de delta1-pirrolina-5-carboxilato desidrogenase Delta-1-Pyrrolin-5-Carboxylat-Dehydrogenase-Mangel Delta1-pyrroline-5-carboxylate dehydrogenase deficiency Déficit en1-pyrroline-5-carboxylate déshydrogénase Pyrrolincarboxylsäure-Dehydrogenasemangel delta1-pirrolina-5-carboxilato desidrogenase, deficiência de Hiperprolinemia tipo II Hiperprolinemia tipo II Hyperprolinemia type II Hyperprolinämie Typ II Hyperprolinémie type II Iperprolinemia, tipo 2 hrdo:pat_id_11144 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 188580 613239 614834 10043788 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(thyrotoxicosis+OR+Thyrotoxic%5Bti%5D)+periodic+paralysis%5Btw%5D G72.3 79102 30967002 C0268446 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Paralysie périodique thyrotoxique hypokalémique Thyreotoxische hypokaliämische periodische Paralyse Thyrotoxic hypokalemic periodic paralysis Paralisi periodica tireotossica Paralisia periódica tireotóxica Paralyse, periodische thyreotoxische Paralysie périodique thyrotoxique Parálisis periódica tirotóxica Thyrotoxic periodic paralysis hrdo:pat_id_11147 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 10066948 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Myxofibrosarcoma%5Bti%5D+OR+(myxoid+malignant+fibrous+histiocytoma%5Btw%5D) C49 79105 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Fibro-hystiocytome mixoïde malin Fibromyxosarcoma Fibromyxosarcome Histiocitoma fibroso maligno de tipo mixoide Histiocitoma fibroso mixóide maligno Histiozytom, fibröses malignes myxoides Istiocitoma fibroso maligno mixoide Myxoid malignant fibrous histiocytoma Mixofibrosarcoma Mixofibrosarcoma Mixofibrosarcoma Myxofibrosarcoma Myxofibrosarcome Myxofibrosarkom hrdo:pat_id_11148 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 600002 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=(skeletal+dysplasia+OR+Bone+Diseases,+Developmental)+(PTHR1+OR+Receptor,+Parathyroid+Hormone,+Type+1+OR+Eiken)+NOT+(Jansen+OR+Blomstrand+OR+enchondromatosis) 79106 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Eiken syndrome Eiken-Syndrom Sindrome di Eiken Syndrome d'Eiken Síndrome de Eiken Síndrome de Eiken hrdo:pat_id_11149 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 607371 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=actin%5Bti%5D+Actins%5Bmh%5D+(dystonia%5Bti%5D+OR+Dystonic+Disorders%5Bmh%5D) Q87.8 79107 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anomalie dello sviluppo - sordità - distonia Anomalies du développement - surdité - dystonie Developmental malformations - deafness - dystonia Entwicklungsdefekte - Schwerhörigkeit - Dystonie Malformaciones del desarrollo - sordera - distonía Malformações - surdez - distonia hrdo:pat_id_1115 C536808 neant Q93.5 1621 C2931338 malformation syndrome Del(3)(q13) Del(3)(q13) Del(3)(q13) Del(3)(q13) Del(3)(q13) Monosomia 3q13 Monosomie 3q13 Monosomie 3q13 Monosomy 3q13 Monosomía 3q13 Monossomia 3q13 3q13 microdeletion syndrome Deleção 3q13 Mikrodeletionssyndrom 3q13 Sindrome da microdelezione 3q13 Syndrome de microdélétion 3q13 Síndrome de microdeleción 3q13 hrdo:pat_id_11150 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 610536 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=mandibulofacial+dysostosis+trigonocephaly+microcephaly+cleft+palate Q87.0 79113 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dysostose mandibulofaciale type Guion-Almeida Growth delay - intellectual deficit - mandibulofacial dysostosis - microcephaly - cleft palate Kleinwuchs - Intelligenzminderung - mandibulo-faziale Dysostose - Mikrozephalie - Gaumenspalte MFDM syndrome Mandibulofacial dysostosis, Guion-Almeida type Retard du développement - déficit intellectuel - dysostose mandibulofaciale - microcéphalie - fente palatine Retraso del crecimiento - déficit intelectual - disostosis mandibulo facial - microcefalia - fisura palatina Ritardo della crescita - deficit cognitivo - disostosi mandibolofacciale - microcefalia - palatoschisi Sindrome MFDM Syndrome MFDM Síndrome MFDM Atraso mental e de crescimento - disostose mandibulo-facial - microcefalia - fenda do palato Mandibulo-faziale Dysostose - Mikrozephalie-Syndrom Mandibulofacial dysostosis-microcephaly syndrome Sindrome disostosi mandibolofacciale-microcefalia Syndrome de dysostose mandibulofaciale-microcéphalie Síndrome de disostosis mandibulofacial - microcefalia hrdo:pat_id_11151 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 610199 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=diabetes+hypothyroidism+glaucoma+hepatic+fibrosis+polycystic+kidneys 79118 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Diabete neonatale - ipotiroidismo congenito - glaucoma congenito - fibrosi epatica - rene policistico Diabetes neonatal - hipotiroidismo congénito - glaucoma congénito - fibrose hepática - rins poliquísticos Diabetes, neonatal - hipotiroidismo congénito - glaucoma congénito - fibrosis hepática - riñones poliquísticos Diabète néonatal - hypothyroïdie congénitale - glaucome congénital - fibrose hépatique - polykystose rénale Neonatal diabetes - congenital hypothyroidism - congenital glaucoma - hepatic fibrosis - polycystic kidneys Neugeborenen-Diabetes - kongenitale Hypothyreose - kongenitales Glaukom - Leberfibrose - polyzystische Nieren hrdo:pat_id_11152 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 235550 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hepatic+veno-occlusive+disease+immunodeficiency K76.5 79124 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome VODI VODI syndrome VODI-Syndrom Doença veno-oclusiva hepática - imunodeficiência Enfermedad hepática veno-oclusiva - inmunodeficiencia Hepatic veno-occlusive disease - immunodeficiency Lebervenen-Verschlusskrankheit - Immunschwäche Maladie veino-occlusive hépatique - immunodéficience Occlusione della vena epatica - immunodeficienza hrdo:pat_id_11153 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 10066728 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Acute+interstitial+pneumonia*%5Btw%5D+OR+(Lung+Diseases,+Interstitial%5Bmh%3Anoexp%5D+Acute+Disease)+OR+Hamman+Rich%5Btw%5D J84.8 79126 196125002 236302005 C0085786 C1279945 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Acute interstitial pneumonitis Hamman-Rich syndrome Hamman-Rich, síndrome de Hamman-Rich-Syndrom Pneumonite intersticial aguda Pneumonite interstitielle aiguë Pneumonitis intersticial aguda Sindrome di Hamman-Rich Syndrome de Hamman-Rich Síndrome de Hamman-Rich Síndrome de Hamman-Rich Acute interstitial pneumonia Pneumonia intersticial aguda Pneumonie, interstitielle, akute Pneumonía intersticial aguda Pneumopathie interstitielle aiguë Polmonite acuta interstiziale hrdo:pat_id_11154 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 10066393 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(interstitial+lung+disease%5Btw%5D+OR+Lung+Diseases,+Interstitial%5Bmh%3Anoexp%5D)+respiratory+bronchiolitis%5Btw%5D J84.8 79127 129451001 C1276236 C1735355 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown RB-ILD RB-ILD RB-ILD RB-ILD RB-ILD Bronchiolite respiratoire avec pneumopathie interstitielle Bronchiolite respiratoria - pneumopatia interstiziale Bronchiolitis, respiratorische - interstitielle Lungenerkrankung Bronquiolite respiratória - doença pulmonar intersticial Bronquitis respiratoria - enfermedad pulmonar intersticial Respiratory bronchiolitis - interstitial lung disease hrdo:pat_id_11155 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Variabel Variabile Variable Variable Variable Variable Variável 247610 10062997 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Lymphoid+interstitial+pneumonia%5Btw%5D+OR+(pneumonia+AND+Lung+Diseases,+Interstitial%5Bmh%3Anoexp%5D+(lymphoid+tissue+OR+lymphoid%5Bti%5D)) J84.8 79128 44274007 C0264511 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Lymphocytic interstitial pneumonia Lymphoid interstitial pneumonia Pneumonia intersticial linfóide Pneumonie, interstitielle, lymphoide Pneumonía linfoide intersticial Pneumopathie interstitielle lymphocytaire Polmonite interstiziale linfoide hrdo:pat_id_11156 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Trichodysplasia+amelogenesis+imperfecta 79129 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Trichodysplasia - amelogenesis imperfecta Trichodysplasie - Amelogenesis imperfecta Trichodysplasie - amélogenèse imparfaite Tricodisplasia - amelogenesi imperfetta Tricodisplasia - amelogénese imperfeita Tricodisplasia - amelogénesis imperfecta hrdo:pat_id_11158 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=ectodermal+dysplasia+(hair%2Fab+OR+%22Sparse+hair%22)+(short+stature)+Pigmentation+Disorders 79132 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cabello escaso - baja estatura - pulgares hipoplásticos - hipodoncia - anomalías de la piel Cabelo ralo - baixa estatura - polegares hipoplásicos - hipodontia - alterações cutâneas Capelli radi - bassa statura - anomalie cutanee Cheveux épars - petite taille - anomalies cutanées Schütteres Haar - Kleinwuchs - Hautveränderungen Sparse hair - short stature - skin anomalies hrdo:pat_id_11159 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 136500 227260 614973 614974 C536385 C537068 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=((facial+dermatoses+OR+face%2Fab+OR+facial+skin+lesions%5Btw%5D)+dermal+hypoplasia%5Btw%5D)+OR+(focal+facial+dermal+dysplasia%5Btw%5D)+OR+(bitemporal+aplasia+cutis+congenita%5Btw%5D) 79133 239051001 254238008 403771007 C1744559 C2936827 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Aplasia cutanea congenita bitemporale Aplasia cutis bitemporal congénita Aplasia cutis bitemporale congénitale Aplasia cutis congenita, bitemporale Aplasia cutânea bitemporal congénita Bitemporal aplasia cutis congenital Brauer syndrome Brauer, síndrome de Brauer-Syndrom DDFF tipo I FFDD Typ I FFDD tipo I FFDD type I FFDD, tipo 1 Hereditary symmetrical aplastic nevi of temples Naevi aplasiques symmétriques héréditaires des tempes Nevi aplastici simmetrici ereditari delle tempie Nevi de las sienes, aplásicos, simétricos y hereditarios Nevo aplásico simétrico hereditário das têmporas Sindrome di Brauer Syndrome de Brauer Síndrome de Brauer Síndrome de Brauer Displasia dermo facial focal Displasia dérmica facial focal Displasia facciale focale del derma Dysplasie dermique faciale focale Dysplasie, dermale faziale fokale Focal facial dermal dysplasia hrdo:pat_id_11160 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 606176 neant 79134 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso do desenvolvimento - epilepsia - diabetes neonatal Developmental delay - epilepsy - neonatal diabetes Entwicklungsverzögerung - Epilepsie - neonataler Diabetes Retard du développement - épilepsie - diabète néonatal Ritardo dello sviluppo - epilessia - diabete neonatale DEND syndrome DEND-Syndrom Sindrome DEND Syndrome DEND Síndrome DEND Síndrome DEND hrdo:pat_id_11161 Variabel Variabile Variable Variable Variable Variable Variável 606554 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=ataxia%5Bti%5D+episodic+ataxia*%5Btw%5D+Vertigo%2Fge G11.8 79135 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atassia episodica - vertigini - ronzii - miochimia Ataxia episódica - vertigens - tinnitus - mioquimia Ataxia episódica - vértigo - acúfenos - mioquimia Ataxie épisodique - vertige - tinnitus - myokymie Ataxie, episodische - Vertigo - Tinnitus - Myokymie Atassia episodica, tipo 3 Ataxia episódica tipo 3 Ataxia episódica, tipo 3 Ataxie épisodique type 3 Ataxie, episodische, Typ 3 Episodic ataxia type 3 hrdo:pat_id_11162 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 606552 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=ataxia%5Bti%5D+((vestibulocerebel*+OR+vestibulo+cerebel*%5Btw%5D)+periodic%5Bti%5D+OR+(Smooth+pursuit%5Bti%5D+OR+(%22Ocular+motility%22+North+Carol*))) G11.8 79136 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atassia vestibolocerebellare periodica (PATX) Ataxia vestibulocerebelosa periódica (PATX) Ataxia vestibulocerebelosa periódica (PATX) Ataxie vestibulo-cérébelleuse périodique PATX Periodic vestibulocerebellar ataxia Periodische vestibulo-zerebelläre Ataxie (PATX) Atassia episodica, tipo 4 Ataxia episódica tipo 4 Ataxia episódica, tipo 4 Ataxie épisodique type 4 Ataxie, episodische, Typ 4 Episodic ataxia type 4 hrdo:pat_id_11163 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 609446 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=paroxys*%5Bti%5D+(dyskinesia+OR+Movement+Disorders)+Epilepsy+(Potassium+Channels+OR+channelopath*) 79137 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown EGDP GEPD GEPD GEPD Epilepsia generalizada - discinesia paroxística Epilepsia generalizada - disquinesia paroxística Epilepsie généralisée - dyskinésie paroxystique Epilepsie, generalisierte - paroxysmale Dyskinesie Epilessia generalizzata - discinesia parossistica Generalized epilepsy - paroxysmal dyskinesia hrdo:pat_id_11164 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(bickerstaff+OR+Bickerstaff's)+encephalitis G61.0 79138 427086003 C1960543 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Rhombencéphalite postinfectieuse de Bickerstaff Syndrome de Bickerstaff Bickerstaff's brainstem encephalitis Bickerstaff-Enzephalitis Encefalite do tronco cerebral de Bickerstaff Encefalite troncoencefalica di Bickerstaff Encefalitis troncoencefálica de Bickerstaff Rhombencéphalite de Bickerstaff hrdo:pat_id_11165 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável D004672 10014596 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Japanese+encephalitis%5Bti%5D+OR+Encephalitis,+Japanese%5Bmajr%5D A83.0 79139 52947006 C0014057 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Encefalite Giapponese Encefalite japonesa Encefalitis japonesa Encéphalite japonaise Japanese encephalitis Japanische Enzephalitis hrdo:pat_id_11166 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Cutaneous+neuroendocrine+carcinoma%5Bti%5D+OR+Carcinoma,+Merkel+Cell C44 79140 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Carcinoma a cellule di Merkel (MCC) Carcinoma de células de Merkel Carcinoma de células de Merkel (MCC) Carcinome à cellules de Merkel MCC Merkel cell carcinoma Merkelzell-Karzinom (MCC) Carcinoma cutaneo neuroendocrino Carcinoma neuro-endócrino cutâneo Carcinoma neuroendocrino cutáneo Carcinome neuroendocrine cutané Cutaneous neuroendocrine carcinoma Karzinom, kutanes neuroendokrines hrdo:pat_id_11167 Normal Normal Normal Normal Normal Normal Normale Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis 114140 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(inherited+OR+familial+OR+hereditary)+painful+(callosities+OR+callosity) Q82.8 79141 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cheratoderma palmoplantare nummulare Hiperqueratosis palmoplantar numular Hyperkératose palmoplantaire nummulaire Ipercheratosi palmoplantare nummulare KPP nummulaire Keratosis palmoplantaris nummularis Keratosis palmoplantaris nummularis Keratosis palmoplantaris nummularis Kératodermie palmoplantaire nummulaire PPK nummulaire PPK nummulare PPK nummularis PPK nummularis Typ Wachters PPK numular Plamoplantar hyperkeratosis nummularis Plamoplantar keratoderma nummularis Queratodermia palmoplantar numular Queratose palmo-plantar numular Queratosis palmoplantar numular Callosidades dolorosas hereditarias Callosità dolorose ereditarie Callosités douloureuses héréditaires Calosidades dolorosas hereditária Hautschwielen, hereditäre schmerzhafte Hereditary painful callosities hrdo:pat_id_11168 126900 neant M72.0 79142 disease Contractura de Dupuytren, familiar Contractura familiar de Dupuytren Contracture familiale de Dupuytren Contrattura familiare di Dupuytren Dupuytrensche Kontraktur, familiäre Familial Dupuytren contracture hrdo:pat_id_11169 107000 206800 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=((Onychodystrophy+OR+nail)+(hypoplasia%5Bti%5D+OR+aplasia%5Bti%5D)+OR+Anonychia%5Bti%5D)+congenital%5Bti%5D+OR+congenital+anonychia%5Btw%5D Q84.3 79143 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Anonichia Anoniquia Anonychia Anonychie Anonychie Anonichia congenita Anoniquia congénita Anoniquia, congénita Anonychie congénitale Anonychie, kongenitale Congenital anonychia hrdo:pat_id_11170 219070 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Onychodysplasia%5Bti%5D+congenital+OR+nails,+malformed%2Fcn%5Bmajr%5D)+NOT+anonychia%5Bti%5D+OR+(Iso%5Bti%5D+%22Kikuchi+syndrome%22) Q84.6 79144 disease COIF COIF syndrome COIF, síndrome COIF-Syndrom Congenital onychodysplasia of the index fingers Iso-Kikuchi syndrome Iso-Kikuchi, síndrome de Iso-Kikuchi-Syndrom Onicodisplasia congenita del dito indice Onicodisplasia congénita de los dedos índices Onicodisplasia congénita dos dedos indicadores Onychodysplasie congénitale des index Onychodysplasie des Zeigefingers, kongenitale (COIF) Sindrome COIF Sindrome di Iso-Kikuchi Syndrome d'Iso-Kikuchi Síndrome COIF Síndrome COIF Síndrome de Iso y Kikuchi Síndrome de Iso-Kikuchi Congenital onychodysplasia Onicodisplasia congenita Onicodisplasia congénita Onicodisplasia congénita Onychodysplasie congénitale Onychodysplasie, kongenitale hrdo:pat_id_11171 Normal Normal Normal Normal Normal Normal Normale Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 179850 10068651 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Dowling+Degos%5Btw%5D+Skin+diseases)+OR+(Reticulate+(pigment*+anomaly+OR+pigmentation+disorders)+flexure*) L81.8 79145 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Acropigmentazione reticolata di Kitamura Acropigmentação reticulada de Kitamura Anomalia pigmentar reticular das regiões de flexão Anomalia reticolata della pigmentazione delle pieghe di flessione Doença de Dowling-Degos-Kitamura Dowling-Degos-Kitamura Krankheit Dowling-Degos-Kitamura, doença de Hyperpigmentierung, retikuläre umschriebene Malattia di Dowling-Degos-Kitamura Pigmentación reticular anómala en las flexuras Pigmentación reticular anómala en los pliegues de flexión Pigmentation réticulaire anormale des plis Reticular pigment anomaly of flexures Retikuläre Akropigmentierung Kitamura Doença de Dowling-Degos Dowling-Degos disease Dowling-Degos-Krankheit Enfermedad de Dowling-Degos Maladie de Dowling-Degos Malattia di Dowling-Degos hrdo:pat_id_11172 145250 155800 614233 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Hyperpigmentation%5Bti%5D+(inherited+OR+hereditary+OR+familial+OR+genetics)+progressive%5Bti%5D+OR+(universal*%5Bti%5D+melanosis) L81.4 79146 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Melanose difusa congénita Melanose universal Melanose, universelle Melanosi diffusa congenita Melanosi universale Melanosi universale ereditaria Melanosis congénita difusa Melanosis diffusa congenita Melanosis diffusa congenita Melanosis difusa congénita Melanosis universal Melanosis universal hereditaria Melanosis universalis hereditaria Melanosis universalis hereditaria Melanosis universalis hereditária Melanosis unversalis hereditaria Mélanose diffuse congénitale Mélanose universelle Mélanose universelle héréditaire Universal melanosis Familial progressive hyperpigmentation Hiperpigmentación familiar progresiva Hiperpigmentação progressiva familiar Hyperpigmentation progressive familiale Hyperpigmentierung, familiäre progressive Iperpigmentazione familiare progressiva hrdo:pat_id_11173 216700 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Reactive+perforating+collagenosis+(familial%5Btw%5D+OR+inherited+OR+hereditary+OR+genetics+OR+genetic%5Btw%5D)+NOT(Kyrle*%5Btw%5D) L87.1 79147 disease Colagenose perfurante reativa, familiar Colagenosis perforante reactiva familiar Collagenosi reattiva perforante familiare Collagénose perforante réactionnelle familiale Familial reactive perforating collagenosis Kollagenose, familiäre reaktive perforierende hrdo:pat_id_11174 130100 C536202 10014338 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Elastosis+perforans+serpiginosa L87.2 79148 49428008 C0221271 disease Elastose perfurante serpiginosa Elastosi serpiginosa perforante Elastosis perforans serpiginosa Elastosis perforans serpiginosa Elastosis perforans serpiginosa Elastosis perforans serpiginosa hrdo:pat_id_11175 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 221800 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=((dermochondral+corneal+OR+Dermochondrocorneal)+OR+%22Francois+syndrome%22)+NOT+(Hallermann%5Btw%5D+OR+Craniofacial+Dysostosis) 79149 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Francois syndrome Francois, síndrome de Francois-Syndrom Sindrome di François Syndrome de François Síndrome de Francois Síndrome de François Dermochondrocorneal dystrophy Distrofia dermo-condro-coneal Distrofia dermo-condro-corneale Distrofia dermocondro-corneana Dystrophie dermo-chondro-cornéenne Dystrophie, dermo-chondro-corneale hrdo:pat_id_11176 614323 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Nevoid+hypermelanosis+linear+whorled L81.4 79150 403803002 C1304501 disease Hipermelanose nevóide linear e espiral Hypermelanose, nävoide, streifen- und wirbelförmige Hypermélanose névoïde linéaire et circulaire Ipermelanosi nevoide lineare e a spirale Linear and whorled nevoid hypermelanosis Nevus hiper-melanocíticos lineales y espirales hrdo:pat_id_11177 101900 10069445 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Acrokeratosis+verruciformis%5Btw%5D Q82.8 79151 400085009 disease Acrocheratosi verruciforme di Hopf Acrokeratosis verruciformis Hopf Acrokeratosis verruciformis of Hopf Acrokératose verruciforme de Hopf Acroqueratose verruciforme de Hopf Acroqueratosis verrucifome de Hopf hrdo:pat_id_11178 175900 607728 612293 612353 614714 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Actinic+porokeratosis%5Btw%5D+disseminated+superficial%5Btw%5D Q82.8 79152 41495000 C0265970 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Porokeratosis superficialis disseminata actinica (PSDA) Disseminated superficial actinic porokeratosis Porocheratosi attinica disseminata superficiale Porokeratose, aktinische disseminierte superfizielle Porokératose actinique superficielle disséminée Poroqueratose actínica disseminada superficial Poroqueratosis actínica superficial diseminada hrdo:pat_id_11179 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 161050 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(20+nail%5Btiab%5D+OR+twenty+nail%5Btiab%5D)+dystrophy L60.3 79153 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown 20-Nägel-Dystrophie Distrofia das vinte unhas Distrofia de las 20 uñas Distrofia de las veinte uñas Distrofia delle venti unghie Dystrophie des vingt ongles Onicodistrofia total Onicodistrofia total Onicodistrofia totale Onychodystrophie totalis Onychodystrophie, totale Onychodystrophy totalis Onychodystrophy totalis Twenty-nail dystrophy Autosomal dominant nail dysplasia Displasia das unhas Displasia ungueal Displasia ungueale Dysplasie des ongles autosomique dominant Nageldysplasie hrdo:pat_id_11180 204750 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=aminoadipic+aciduria E72.3 79154 disease Aciduria alfa-aminoadipica Aciduria alfa-aminoadípica Acidurie alpha aminoadipique Alpha-Aminoadipinazidurie Alpha-aminoadipic aciduria 2-Aminoadipinazidurie 2-aminoadipic 2-oxoadipic aciduria Aciduria 2-aminoadipica Aciduria 2-aminoadípica Acidurie 2-aminoadipique 2-oxoadipique Acidúria 2-aminoadípica hrdo:pat_id_11181 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 236800 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=hydroxykynureninuria+OR+xanthurenic+aciduria%5Btw%5D E70.8 79155 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acidemia xanturénica Aciduria xanturenica Aciduria xanturénica Acidurie xanthurénique Acidúria xanturénica Deficiencia de quinureninasa Deficit di chinureninasi Deficiência de Quinureninase Déficit de quinureninasa Déficit en kynuréninase Kynureninase deficiency Kynureninase-Mangel Quinureninase, deficiência de Xanthurenazidurie Xanthurenic aciduria Encefalopatia da idrossichinureninuria Encefalopatia por hidroxiquinureninúria Encefalopatía debido a la hidroxi-quinurenina Encephalopathy due to hydroxykynureninuria Encéphalopathie par hydroxykynuréninurie Enzephalopathie durch Hydroxykynureninurie hrdo:pat_id_11182 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis 236900 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=%22hydroxylysinuria%22 E72.3 79156 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Convulsioni - deficit cognitivo da idrossilisinuria Epilepsia - atraso mental, por hidroxilisinúria Convulsiones - déficit intelectual debido a hidroxilsinuria Convulsioni - ritardo mentale da idrossilisinuria Convulsions - déficit intellectuel par hydroxylysinurie Epilepsia - défice intelectual, por hidroxilisinúria Krampfanfälle - Intelligenzminderung, durch Hydroxylysinurie Seizures - intellectual deficit due to hydroxylysinuria hrdo:pat_id_11183 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 610006 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=2+methylbutyryl+CoA%5Btw%5D+(%22dehydrogenase+deficiency%22+OR+Oxidoreductases+Acting+on+CH-CH+Group+Donors%2FDf) E71.1 79157 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 2-Methylbutyrazidurie 2-methylbutyric aciduria Aciduria 2-metilbutirrica Aciduria 2-metilbutírica Acidurie 2-méthylbutyrique Acidúria 2-metilbutírica Acil-coA desidrogenase de cadeias curtas/ramificadas, deficiência de Acyl-CoA-Dehydrogenase-Mangel, kurz/verzweigtkettige Deficiencia de 2-metilbutiril-CoA deshidrogenasa Deficiencia de SBCAD Deficiencia de acil-CoA deshidrogenasa de cadena corta Deficit di SBCAD Deficit di acil-CoA deidrogenasi a catena corta/ramificata Deficiência de Acil-coA desidrogenase de cadeias curtas/ramificadas Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency Déficit de SBCAD Déficit de acil-coA-deshidrogenasa de cadena corta Déficit en acyl-coA déshydrogénase à chaînes courtes ramifiées Entwicklungsverzögerung durch 2-Methylbutyryl-CoA-Dehydrogenase-Mangel Retard du développement par déficit en 2-méthylbutyryl-CoA déshydrogénase Retraso del desarrollo por deficiencia de 2-metilbutiril-CoA-deshidrogenasa Retraso del desarrollo por déficit de 2-metilbutiril-CoA-deshidrogenasa Ritardo dello sviluppo da deficit di 2-metilbutirril-CoA deidrogenasi SBCAD deficiency SBCAD-Mangel Short/branched-chain acyl-coA dehydrogenase deficiency 2-Methylbutyryl-CoA-Dehydrogenase-Mangel 2-methylbutyryl-CoA dehydrogenase deficiency Atraso do desenvolvimento por deficiência de 2-metilbutiril-coA desidrogenase Deficit di 2-metillbutirril-CoA deidrogenasi Déficit de 2-metilbutiril-CoA deshidrogenasa Déficit en 2-méthylbutyryl-CoA déshydrogénase hrdo:pat_id_11184 79158 group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown 'Aciduria orgánica, ''cerebral''' 'Classe das acidúrias orgânicas ''cerebrais''' Aciduria organica cerebrale Acidurie organique cérébrale Cerebral organic aciduria Organoazidopathie, zerebrale hrdo:pat_id_11185 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 611283 C535541 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Isobutyryl+CoA%5Btw%5D+(%22dehydrogenase+deficiency%22+OR+Oxidoreductases+Acting+on+CH-CH+Group+Donors%2Fdf) E71.1 79159 445274004 C1969809 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Acidemia isobutírica Aciduria isobutirrica Aciduria isobutírica Acidurie isobutyrique Acidúria isobutírica Isobutyrazidurie Isobutyric aciduria Deficit di isobutiril-CoA deidrogenasi Deficiência de isobutiril-coA desidrogenase Déficit de isobutiril-CoA-deshidrogenasa Déficit en isobutyryl-CoA déshydrogénase Isobutyryl-CoA dehydrogenase deficiency Isobutyryl-CoA-Dehydrogenasemangel hrdo:pat_id_11187 10061023 79161 20957000 C0149670 group of phenomes Anomalie du métabolisme des sucres Disorder of carbohydrate metabolism Doença do metabolismo dos carbohidratos Kohlenhydrat-Stoffwechselstörung Malattia del metabolismo dei carboidrati Metabolismo de carbohidratos, enfermedad Trouble du métabolisme des hydrates de carbone hrdo:pat_id_11189 79163 group of phenomes Aciduria organica classica Aciduria orgánica, clásica Acidurie organique classique Acidúria orgânica, clássica Classic organic aciduria Organoazidopathie, klassische hrdo:pat_id_1119 neant Q93.5 1625 malformation syndrome Monosomia 4q Monosomie 4q Monosomie 4q Monosomy 4q Monosomía 4q Monossomia 4q Deleción 4q Deletion 4q Deletion 4q Delezione 4q Deleção 4q Délétion 4q hrdo:pat_id_11192 neant E72.0 79166 16784003 C0268641 group of phenomes Aminosäuretransport-Störung Difetto del trasporto e dell'assorbimento degli amminoacidi Disorder of amino acid absorption and transport Doença do transporte de aminoácidos Trastornos de la absorción y transporte de aminoácidos Trouble de l'absorption et du transport des acides aminés hrdo:pat_id_11193 neant E72.2 79167 group of phenomes Störung der Ammoniak-Entgiftung - Harnstoffzyklusdefekt Difetto del metabolismo del cliclo dell'urea e disintossicazione da ammoniaca Disorder of urea cycle metabolism and ammonia detoxification Doenças do ciclo da ureia - destoxificação da amónia Harnstoffzyklusdefekt und vererbte Hyperammonämie Trastornos del metabolismo del ciclo de la urea y de la detoxificación del amonio Trouble du métabolisme du cycle de l'urée et de la détoxification de l'ammoniac hrdo:pat_id_11194 Variabel Variabile Variable Variable Variable Variable Variável 79168 group of phenomes 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Anomalie de la synthèse des acides biliaires Anomalía en la síntesis de ácidos biliares Deficiência da síntese de ácidos biliares Disorder of bile acid synthesis Gallensäuresynthesedefekt Malattia della sintesi degli acidi biliari hrdo:pat_id_11195 79169 group of phenomes Biogene Amine-Stoffwechselstörung Disorder of neurotransmitter metabolism and transport Doença do metabolismo das aminas biogénicas Malattia del metabolismo delle amine biogeniche Metabolismo de aminas biogénicas, enfermedad del Trouble du métabolisme et du transport des neurotransmetteurs hrdo:pat_id_11197 79171 group of phenomes Anomalie de transport et du métabolisme de la cobalamine Cobalamin-Stoffwechselstörung Difetto del trasporto e dell'assorbimento della cobalamina Disorder of cobalamin metabolism and transport Doença do metabolismo da cobalamina Trastornos del metabolismo y transporte de la cobalamina hrdo:pat_id_11198 neant E72.8 79172 group of phenomes Déficit primaire en créayine Primary creatine deficiency disorder Trastorno por déficit primario de creatina Anomalie de la biosynthèse de la créatine Disorder of creatine biosynthesis Doença da biossíntese de creatina Enfermedad de biosíntesis de creatina Kreatinsynthesedefekt Malattia della biosintesi della creatina hrdo:pat_id_11199 neant E72.1 79173 group of phenomes Anomalie du métabolisme des acides aminés sulfurés et du transfert cytosolique du groupement méthyle Cytosolic methyl group transfer or sulfur amino acid metabolism disorder Difetto del metabolismo degli amminoacidi sulfurei o del trasporto citosolico del gruppo metile Enfermedad del grupo de transferencia metil citosólicos o del metabolismo de los aminoácidos del azufre Störung des zytosolischen Methylgruppentransfers oder schwefelhaltige Aminosäuren-Stoffwechselstörung Disorder of methionine cycle and sulfur amino acid metabolism Doença do metabolismo dos aminoácidos sulfurados ou da transferência citosólica do grupo metilo Enfermedad del ciclo de la metionina y del metabolismo de los aminoácidos del azufre Malattia del metabolismo degli amminoacidi sulfurei e del ciclo della metionina Störung des Methionin-/schwefelhaltige Aminosäuren-Stoffwechsels Trouble du métabolisme du cycle de la méthionine et des acides aminés sulfurés hrdo:pat_id_112 Variabel Variabile Variable Variable Variable Variable Variável 156310 249900 250100 C538597 D007966 10067609 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=leukodystrophy,+metachromatic+(humans+OR+patients+OR+human%5Btw%5D) E75.2 512 238031009 396338004 C0023522 C2713319 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Arilsulfatase A, deficiência de Arylsulfatase A deficiency Arylsulfatase A-Mangel Deficit di arilsulfatasi A Deficiência de arilsulfatase A Déficit de Arilsulfatasa A Déficit en Arylsulfatase A MLD MLD MLD MLD MLD Leucodistrofia metacromatica Leucodistrofia metacromática Leucodistrofia metacromática Leucodystrophie métachromatique Leukodystrophie, metachromatische Metachromatic leukodystrophy hrdo:pat_id_11200 neant E71.3 79174 group of phenomes Difetto dell'ossidazione degli acidi grassi e del metabolismo dei corpi chetonici Disorder of fatty acid oxidation and ketone body metabolism Doença da oxidação dos ácidos gordos ou da cetogénese Fettsäureoxidationsstörungen oder Ketogenesedefekt Trastornos de la oxidación de los ácidos grasos y del metabolismo de los cuerpos cetónicos Trouble de l'oxydation des acides gras et du métabolisme des corps cétoniques hrdo:pat_id_11201 neant E72.8 79175 group of phenomes Difetto del metabolismo del GABA Disorder of GABA metabolism Enfermedad del metabolismo del GABA Trouble du métabolisme de GABA Difetto del metabolismo dell'acido gamma-aminobutirrico Disorder of gamma-aminobutyric acid metabolism Doença do metabolismo do GABA GABA-Stoffwechselstörung Trastornos del metabolismo del ácido gamma-aminobutírico Trouble du métabolisme de l'acide gamma-aminobutyrique hrdo:pat_id_11203 neant E74.4 79177 group of phenomes Doença da gluconeogénese Gluconeogenesis disorder Gluconeogénesis, enfermedad de Glukoneogenese-Störung Malattia della gluconeogenesi Trouble de la gluconéogénèse hrdo:pat_id_11204 neant E74.8 79178 group of phenomes Anomalie du transport du glucose Doença do transporte da glucose Glucose transport disorder Glukosetransport-Störung Malattia del trasporto del glucosio Transporte de glucosa, enfermedad de hrdo:pat_id_11205 79179 237977000 C0342762 group of phenomes Disorder of glycerol metabolism Doença do metabolismo do glicerol Glycerol-Stoffwechselstörung Malattia del metabolismo del glicerolo Metabolismo del glicerol, enfermedad del Trouble du métabolisme du glycérol hrdo:pat_id_11207 neant E70.8 79181 44176004 C0268512 group of phenomes Disorder of histidine metabolism Doença do metabolismo da histidina Histidin-Stoffwechselstörung Malattia del metabolismo dell'istidina Metabolismo de la histidina, enfermedad del Trouble du métabolisme de l'histidine hrdo:pat_id_11209 neant E71.3 79183 group of phenomes Difetto del metabolismo dei corpi chetonici Disorder of ketone body metabolism Doença de cetólise Ketolysedefekt Trastornos del metabolismo de los cuerpos cetónicos Trouble du métabolisme des corps cétaoniques hrdo:pat_id_1121 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=5q-+syndrome%5Bti%5D+OR+(5q*%5Bti%5D+deletion+syndrome%5Btw%5D)+OR+((deletion+OR+monosomy)+5q*%5Btw%5D+(5qter+OR+qter%5Btw%5D+OR+terminal+deletion*%5Btw%5D)) Q93.5 1627 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Delezione 5q distale Delezione 5q telomerica Distal 5q deletion Délétion distale 5q Délétion télomérique 5q Monosomia 5qter Monosomie 5q35 Monosomie 5qter Monosomy 5qter Monosomía 5q35 Monossomia 5q35 Telomeric 5q deletion Deleción 5q35 Deletion 5q35 Deleção 5q35 Distal monosomy 5q Monosomia 5q distale Monosomie distale 5q hrdo:pat_id_11211 79185 group of phenomes Disorder of ornithine or proline metabolism Doença do metabolismo da ornitina ou da prolina Enfermedad del metabolismo de la ornitina o prolina Malattia del metabolismo della ornitina o prolina Ornithin/Prolin-Stoffwechselstörung Trouble du métabolisme de l'ornithine ou de la proline hrdo:pat_id_11212 neant E74.8 79186 group of phenomes Difetto del metabolismo del pentoso fosfato Disorder of pentose phosphate metabolism Doença do metabolismo das pentoses Pentose-Stoffwechselstörung Trastornos del metabolismo de la pentosa fosfato Trouble du métabolisme des pentoses-phosphates hrdo:pat_id_11213 79187 group of phenomes Disorder of peptide metabolism Doença do metabolismo de péptidos Malattia del metabolismo dei peptidi Metabolismo peptídico, enfermedad del Peptid-Stoffwechselstörung Trouble du métabolisme des peptides hrdo:pat_id_11214 neant E71.3 79188 group of phenomes Anomalie de la béta-oxydation péroxysomale Doença da beta-oxidação peroxissomal Enfermedad de la beta oxidación peroxisomal Malattia della beta-ossidazione perossisomiale Peroxisomal beta-oxidation disorder Peroxisomale beta-Oxidationsstörung hrdo:pat_id_11215 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance C536664 neant 79189 C1832200 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Enfermedad del espectro PBD-Zellweger PBD-ZSD PBD-ZSD PBD-ZSD PBD-ZSS PBD-ZSS PBD-ZSS PBD-Zellweger spectrum disorder Doença da biogénese do peroxissoma Espectro del síndrome de Zellweger - trastorno de la biogénesis peroxisomal Malattia della biogenesi dei perossisomi Peroxisome biogenesis disorder-Zellweger syndrome spectrum Peroxisomenbiogenesedefekt Spectre des anomalies de la biogénèse du péroxysome-syndrome de Zellweger hrdo:pat_id_11216 79190 group of phenomes Disorder of phenylalanin or tyrosine metabolism Doença do metabolismo da fenilalanina ou tirosina Malattia del metabolismo della fenilalanina o tirosina Metabolismo de la fenilalanina o tirosina, enfermedad del Phenylalanin/Tyrosin-Stoffwechselstörung Trouble du métabolisme de la phénylalanine ou de la tyrosine hrdo:pat_id_11217 10061476 79191 32612005 C0268104 group of phenomes Disorder of purine metabolism Doença do metabolismo das purinas Enfermedad del metabolismo de las purinas Malattia del metabolismo della purina Purin-Stoffwechselstörung Trouble du métabolisme de la purine hrdo:pat_id_11218 neant G40.8 79192 group of phenomes Disorder of pyridoxine metabolism Doença do metabolismo da piridoxina Malattia del metabolismo della piridossina Metabolismo de la piridoxina, enfermedad del Pyridoxin-Stoffwechselstörung Trouble du métabolisme de la pyrodoxine hrdo:pat_id_11219 79193 85444005 C0268127 group of phenomes Disorder of pyrimidine metabolism Doença do metabolismo das pirimidinas Enfermedad del metabolismo de la pirimidina Malattia del metabolismo della pirimidina Pyrimidin-Stoffwechselstörung Trouble du métabolisme de la pyrimidine hrdo:pat_id_11220 79194 group of phenomes Disorder of serine or glycine metabolism Doença do metabolismo da serina ou da glicina Malattia del metabolismo della serina o glicina Metabolismo de la serina o glicina, enfermedad del Serin/Glycin-Stoffwechselstörung Trouble du métabolisme de la sérine ou de la glycine hrdo:pat_id_11221 79195 group of phenomes Anomalie de la biosynthèse du stérol Doença da biossíntese dos esteróis Enfermedad de biosíntesis de esteroles Malattia della biosintesi degli steroli Sterol biosynthesis disorder Sterolbiosynthesedefekt hrdo:pat_id_11222 neant E72.8 79196 9128006 C0268517 group of phenomes Anomalie du cycle du gamma-glutamyl Disorder of the gamma-glutamyl cycle Doença do ciclo da gama-glutamil Enfermedad del ciclo de la gamma-glutamil Gamma-Glutamyl-Zyklus-Störung Malattia del ciclo del gamma-glutamile Trouble du cycle du gamma-glutamyl hrdo:pat_id_11223 neant E71.0 E71.1 79197 116020001 C0342712 group of phenomes Difetto del metabolismo degli aminoacidi a catena ramificata Disorder of branched-chain amino acid metabolism Doença do metabolismo de aminoácidos de cadeia ramificada Enfermedad del metabolismo de los aminoácidos de cadena ramificada Trouble du métabolisme des acides aminés à chaînes ramifiées Verzweigte Aminosäuren-Stoffwechselstörung hrdo:pat_id_11226 79200 group of phenomes Disorder of energy metabolism Doença do metabolismo de energia Energiestoffwechselstörung Malattia del metabolismo dell'energia Metabolismo energético, enfermedad del Trouble du métabolisme energétique hrdo:pat_id_11227 D006008 10061990 neant E74.0 79201 29633007 C0017919 group of phenomes EAG GSD GSD GSD GSD Glicogenosi Glucogenosis Glycogenosis Glycogénose Glykogen-Speicherkrankheit Doença do armazenamento do glicogénio Enfermedad del almacenamiento del glucógeno Glycogen storage disease Glykogenose Maladie de stockage du glycogène Malattia da deposito di glicogeno hrdo:pat_id_11230 neant E75.5 E75.6 79204 10741005 group of phenomes Almacenamiento de lípidos, enfermedad de Doença do armazenamento lipídico Lipid storage disease Lipidspeicherkrankheit Maladie de surchage lipidique Malattia da deposito di lipidi hrdo:pat_id_11233 79207 group of phenomes Anomalie de transport lysosomal des acides aminés Defeito no transporte lisossomal Difetto del trasporto lisosomiale degli aminoacidi Disorder of lysosomal amino acid transport Lysosomaler Transportdefekt Trastornos del transporte lisosomal de los aminoácidos hrdo:pat_id_11237 neant E78.2 79211 267434003 group of phenomes Hiperlipidemia mixta Hiperlipidemia, mista Hyperlipidämie, gemischte Hyperlipidémie mixte Iperlipidemia mista Mixed hyperlipidemia hrdo:pat_id_11238 D009081 neant 79212 70528007 C0026697 group of phenomes Mucolipidose Mucolipidose Mucolipidosi Mucolipidosis Mucolipidosis Mukolipidose hrdo:pat_id_11239 D009083 10028093 neant E77.8 79213 11380006 C0026703 group of phenomes Mucopolisacaridosis Mucopolisaccaridosi Mucopolissacaridose Mucopolysaccharidose Mucopolysaccharidosis Mukopolysaccharidose hrdo:pat_id_11240 79214 group of phenomes Disorder of biogenic amine metabolism and transport Enfermedad metabólica con anomalía de los neurotransmisores Malattia metabolica con anomalia dei neurotrasmettitori Metabólica da neurotransmissão, anomalia Stoffwechselkrankheit mit Neurotransmitter-Anomalie Trouble du métabolisme et du transport des amines biogènes hrdo:pat_id_11241 neant E77.1 79215 group of phenomes Oligosacaridosis Oligosaccaridosi Oligosaccharidose Oligosaccharidose Oligosaccharidosis Oligossacaridose hrdo:pat_id_11243 79217 group of phenomes Autre maladie métabolique avec atteinte cutanée Doença dermatológica associada a outra anomalia metabólica Enfermedad de la piel asociada a otra anomalía metabólica Hautkrankheit, assoziiert mit sonstigen Stoffwechselanomalien Malattia cutanea associata ad altra anomalia metabolica Other metabolic disease with skin involvement hrdo:pat_id_11245 79219 group of phenomes Deficiência de neurotransmissor, outra Difetto dei neurotrasmettitori, raro Maladie métabolique due à un déficit d'un autre neurotransmetteur Metabolic disease involving other neurotransmitter deficiency Neurotransmitterstörung, sonstige Otro defecto de los neurotransmisores hrdo:pat_id_11250 neant E79 79224 group of phenomes Disorder of purine or pyrimidine metabolism Doença do metabolismo das purinas ou pirimidinas Malattia del metabolismo della purina o pirimidina Metabolismo de las purinas o pirimidinas, enfermedad Purin/Pyrimidin-Stoffwechselstörung Trouble du métabolisme des purines ou pyrimidines hrdo:pat_id_11251 D013106 neant E75.0 E75.1 E75.2 E75.3 79225 238028008 C0037899 group of phenomes Esfingolipidose Esfingolipidosis Sfingolipidosi Sphingolipidose Sphingolipidose Sphingolipidosis hrdo:pat_id_11252 79226 group of phenomes Anomalie du métabolisme des stérols Doença do metabolismo dos esteróides Malattia del metabolismo degli steroli Metabolismo de esteroles, enfermedad del Sterol metabolism disorder Sterol-Stoffwechselstörung hrdo:pat_id_11256 Adulte jeune Adultos jóvenes Giovani adulti Jovem adulto Junge Erwachsene Young adult Young adult Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 602390 613313 C537247 neant E83.1 79230 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Emocromatosi giovanile Hemocromatosis juvenil Hämochromatose, juvenile Hémochromatose juvénile Juvenile hemochromatosis Emocromatosi, tipo 2 Hemochromatosis type 2 Hemocromatose, forma juvenil Hemocromatosis tipo 2 Hämochromatose Typ 2 Hémochromatose type 2 hrdo:pat_id_11259 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 300323 neant E79.8 79233 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficit di HPRT, grado 1 Deficit di ipoxantina guanina fosforibosil transferasi, grado 1 Deficit parziale di HPRT Deficit parziale di HPRT1 Deficit parziale di ipoxantina guanina fosforibosil transferasi Deficit parziale di ipoxantina guanina fosforibosil transferasi 1 Déficit de HPRT, grado I Déficit de hipoxantina guanina fosforribosil transferasa, grado I Déficit en HPRT grade I Déficit en hypoxanthine-guanine phosphoribosyltransferase grade I Déficit parcial de HPRT Déficit parcial de HPRT1 Déficit parcial de hipoxantina guanina fosforribosil transferasa Déficit parcial de hipoxantina guanina fosforribosil transferasa 1 Déficit partiel en HPRT Déficit partiel en HPRT1 Déficit partiel en hypoxanthine guanine phosphoribosyltransférase Déficit partiel en hypoxanthine guanine phosphoribosyltransférase 1 Gota relacionada con HPRT Gotta associata a HPRT Goutte associée à HPRT HPRT deficiency, grade I HPRT partial deficiency HPRT-Mangel, Grad I HPRT-Mangel, partieller HPRT-related gout HPRT-related hyperuricemia HPRT1 partial deficiency Hiperuricemia relacionada con HPRT Hyperuricémie associée à HPRT Hyperurikämie, HPRT-abhängige Hypoxanthin-Guanin-Phosphoribosyltransferase-1-Mangel, partieller Hypoxanthin-Guanin-Phosphoribosyltransferase-Mangel, partieller Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency Hypoxanthine guanine phosphoribosyltransferase partial deficiency Hypoxanthine-guanine phosphoribosyltransferase deficiency, grade I Iperuricemia associata a HPRT Kelley-Seegmiller syndrome Kelley-Seegmiller-Syndrom Sindrome di Kelley-Seegmiller Syndrome de Kelley-Seegmiller Síndrome de Kelley-Seegmiller Síndrome de Kelley-Seegmiller hrdo:pat_id_11260 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 218800 C536212 10057034 neant E80.5 79234 8933000 C2931131 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Bilirubin UDP-Glucuronosyltransferase-Mangel Typ 1 Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1 Bilirubin-UGT deficiency type 1 Bilirubin-UGT-Mangel Typ 1 Deficit di UGT, tipo 1 Deficit di bilirubina uridina-difosfato glucuronosiltransferasi, tipo 1 Deficit di bilirubina-UGT, tipo 1 Déficit de UGT tipo 1 Déficit de bilirrubina uridinadifosfato glucuronosiltransferasa tipo 1 Déficit de bilirrubina-UGT tipo 1 Déficit en UGT type 1 Déficit en bilirubine uridinediphosphate glucuronosyltransférase type 1 Déficit en bilirubine-UGT type 1 Hereditary unconjugated hyperbilirubinemia type 1 Hiperbilirrubinemia no conjugada hereditaria tipo 1 Hyperbilirubinämie, hereditäre unkonjugierte, Typ 1 Hyperbilirubinémie non conjuguée familiale type 1 Hyperbilirubinémie non conjuguée héréditaire type 1 Iperbilirubinemia ereditaria non coniugata, tipo 1 Iperbilirubinemia non coniugata ereditaria, tipo 1 UGT deficiency type 1 UGT-Mangel Typ 1 Crigler-Najjar syndrome type 1 Crigler-Najjar-Syndrom Typ 1 Sindrome di Crigler-Najjar, tipo 1 Syndrome de Crigler-Najjar type 1 Síndrome de Crigler-Najjar tipo 1 Síndrome de Crigler-Najjar tipo 1 hrdo:pat_id_11261 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 606785 C536213 10011387 neant E80.5 79235 68067009 C0268311 C2931132 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Arias syndrome Arias-Syndrom Bilirubin UDP-Glucuronosyltransferase-Mangel Typ 2 Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2 Bilirubin-UGT deficiency type 2 Bilirubin-UGT-Mangel Typ 2 Deficit di UGT, tipo 2 Deficit di bilirubina uridina-difosfato glucuronosiltransferasi, tipo 2 Deficit di bilirubina-UGT, tipo 2 Déficit de UGT tipo 2 Déficit de bilirrubina uridinadifosfato glucuronosiltransferasa tipo 2 Déficit de bilirrubina-UGT tipo 2 Déficit en UGT type 2 Déficit en bilirubine uridinediphosphate glucuronosyltransférase type 2 Déficit en bilirubine-UGT type 2 Hereditary unconjugated hyperbilirubinemia type 2 Hiperbilirrubinemia no conjugada hereditaria tipo 2 Hyperbilirubinämie, hereditäre unkonjugierte, Typ 2 Hyperbilirubinémie non conjuguée familiale type 2 Iperbilirubinemia ereditaria non coniugata, tipo 2 Iperbilirubinemia non coniugata ereditaria, tipo 2 Sindrome di Arias Syndrome d'Arias Síndrome de Arias UGT deficiency type 2 UGT-Mangel Typ 2 Crigler-Najjar syndrome type 2 Crigler-Najjar-Syndrom Typ 2 Sindrome di Crigler-Najjar, tipo 2 Syndrome de Crigler-Najjar type 2 Síndrome de Crigler-Najjar tipo 2 Síndrome de Crigler-Najjar tipo 2 (síndrome de Arias) hrdo:pat_id_11263 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 230200 C535999 neant E74.2 79237 124302001 C0268155 C0751158 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficit di GALK Déficit GALK Déficit en GALK Déficit en galactokinase, galactosémie GALK deficiency GALK-D GALK-D GALK-D GALK-D GALK-D GALK-Mangel Galactokinase deficiency galactosemia Galactosemia por déficit de galactoquinasa Galactosemia tipo 2 Galactosemia type 2 Galactosémie type 2 Galaktokinase-Mangel, galaktosämischer Galaktosämie Typ 2 Galattosemia con deficit di galattochinasi Galattosemia, tipo 2 Deficit di galattochinasi Deficiência de galactocinase Déficit de galactoquinasa Déficit en galactokinase Galactokinase deficiency Galaktokinase-Mangel hrdo:pat_id_11264 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 230350 neant E74.2 79238 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficiencia de GALE Deficiencia de UDP-galactosa-4-epimerasa Deficiencia de galactosa epimerasa Deficiencia de uridina difosfato galactosa-4-epimerasa Deficit di GALE Deficit di UDP-galattosio-4-epimerasi Deficit di uridina difosfato galattosio-4-epimerasi Déficit GALE Déficit de GALE Déficit de UDP-galactosa-4-epimerasa Déficit de uridina difosfato galactosa-4-epimerasa Déficit en GALE Déficit en UDP-galactose-4-épimérase Déficit en uridine diphosphate-galactose-4-épimérase Epimerase deficiency galactosemia Epimerase-Mangel, galaktosämischer GALE deficiency GALE-D GALE-D GALE-D GALE-D GALE-D GALE-Mangel Galactosemia por deficiencia de epimerasa Galactosemia por déficit de epimerasa Galactosemia tipo 3 Galactosemia type 3 Galactosémie de type 3 Galaktosämie Typ 3 Galattosemia, tipo 3 Galattosemica con deficti di epimerasi UDP-Galaktose-4-Epimerase-Mangel UDP-galactose-4-epimerase deficiency Uridine diphosphate galactose-4-epimerase deficiency Deficit di galattosio epimerasi Deficiência de UDP-galactose-4-epimerase Déficit de galactosa epimerasa Déficit en galactose épimérase Galactose epimerase deficiency Galaktose-Epimerase-Mangel hrdo:pat_id_11265 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 230400 neant E74.2 79239 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficit di GALT Deficit di galattosio-1-fosfato uridiltransferasi Déficit GALT Déficit de galactosa-1-fosfato uridiltransferasa Déficit en GALT Déficit en galactose-1-phosphate uridyltransférase GALT deficiency GALT-Mangel Galactose-1-phosphate uridyltransferase deficiency Galactosemia tipo 1 Galactosemia type 1 Galactosémie de type 1 Galaktose-1-Phosphat-Uridyltransferase-Mangel Galaktosämie Typ 1 Galattosemia, tipo 1 Classic galactosemia Deficiência de galactose-1-fosfate uridiltransferase Galactosemia clásica Galactosémie classique Galaktosämie, klassische Galattosemia classica hrdo:pat_id_11266 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 261750 neant E74.0 79240 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Enfermedad de almacenamiento de glucógeno tipo 9B Enfermedad de almacenamiento de glucógeno tipo IXb GSD da deficit di fosforilasi chinasi epatica e muscolare GSD due to liver and muscle phosphorylase kinase deficiency GSD par déficit en phosphorylase kinase hépatique et musculaire GSD por déficit de fosforilasa quinasa hepática y muscular GSD tipo 9B GSD tipo Ixb GSD type 9B GSD type 9B GSD type IXb GSD type IXb GSD, tipo 9B GSD, tipo IXb Glicogenosi, tipo 9B Glicogenosi, tipo IXb Glucogenosis por déficit de fosforilasa quinasa hepática y muscular Glucogenosis tipo 9B Glucogenosis tipo IXb Glycogen storage disease type 9B Glycogen storage disease type IXb Glycogenosis due to liver and muscle phosphorylase kinase deficiency Glycogenosis type 9B Glycogenosis type IXb Glycogénose type 9B Glycogénose type IXb Glykogenose Typ 9 Malattia da deposito di glicogeno da deficit di fosforilasi chinasi epatica e muscolare Malattia da deposito di glicogeno, tipo 9B Malattia da deposito di glicogeno, tipo IXb Doença de armazenamento do glicogénio tipo 9 Enfermedad de almacenamiento de glucógeno por déficit de fosforilasa quinasa hepática y muscular Glicogenosi da deficit di fosforilasi chinasi epatica e muscolare Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency Glycogénose par déficit en phosphorylase kinase hépatique et musculaire hrdo:pat_id_11267 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 253260 neant E53.8 79241 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 BTD deficiency BTD deficiency BTD-Mangel Deficit di BTD Deficit multiplo di carbossilasi a esordio giovanile Deficit multiplo di carbossilasi a esordio tardivo Déficit de BTD Déficit multiple en carboxylases par déficit en biotinidase Déficit multiple en carboxylases à début tardif Déficit múltiple de carboxilasas de aparición juvenil Déficit múltiple de carboxilasas de aparición tardía Juvenile-onset multiple carboxylase deficiency Juvenile-onset multiple carboxylase deficiency Late-onset multiple carboxylase deficiency Late-onset multiple carboxylase deficiency Multipler Carboxylase-Mangel, juveniler Multipler Carboxylase-Mangel, spät-einsetzender Biotinidase deficiency Biotinidase-Mangel Deficit di biotinidasi Deficiência múltipla de carboxilase por deficiência de biotinidase Déficit de biotinidasa Déficit en biotinidase hrdo:pat_id_11268 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 253270 neant E53.8 79242 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficit multiplo di carbossilasi a esordio precoce Deficit multiplo neonatale di carbossilasi Déficit multiple en carboxylases par déficit en holocarboxylase synthétase Déficit múltiple de carboxilasas de aparición temprana Déficit múltiple de carboxilasas neonatal Early-onset multiple carboxylase deficiency Early-onset multiple carboxylase deficiency Forme néonatale du déficit multiple en carboxylases Multipler Carboxylase-Mangel, früh-einsetzender Multipler Carboxylase-Mangel, neonataler Neonatal multiple carboxylase deficiency Neonatal multiple carboxylase deficiency Deficit di olocarbossilasi sintetasi Deficiência múltipla de carboxilase por deficiência de holocarboxilase sintetase Déficit de holocarboxilasa sintetasa Déficit en holocarboxylase synthétase Holocarboxylase synthetase deficiency Holocarboxylase-Synthetase-Mangel hrdo:pat_id_11269 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 312170 neant E74.4 79243 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficiencia de piruvato descarboxilasa Deficiencia de piruvato deshidrogenasa E1-alfa Deficiencia de subunidad E1 alfa del complejo piruvato deshidrogenasa Deficit della piruvato decarbossilasi Deficit della subunità alfa della componente E1 della piruvato deidrogenasi Déficit de piruvato descarboxilasa Déficit de subunidad E1 alfa del complejo piruvato deshidrogenasa Déficit en pyruvate décarboxylase Déficit en sous-unité E1 alpha du complexe pyruvate déshydrogénase PDHAD PDHAD Pyruvat-Decarboxylase-Mangel Pyruvate decarboxylase deficiency Pyruvate dehydrogenase complex E1 component subunit alpha deficiency Deficit di E1-alfa della piruvato deidrogenasi Deficiência de E1 Déficit de piruvato deshidrogenasa E1-alfa Déficit en pyruvate déhydrogénase E1-alpha Pyruvat-Dehydrogenase E1-alpha-Untereinheit-Mangel Pyruvate dehydrogenase E1-alpha deficiency hrdo:pat_id_11270 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 245348 neant E74.4 79244 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficiencia de componente E2 del complejo piruvato deshidrogenasa Deficiencia de componente dihidrolipoamida acetiltransferasa del complejo piruvato deshidrogenasa Deficiencia de componente dihidrolipoil-lisina-residuo acetiltransferasa del complejo piruvato deshidrogenasa Deficiencia de dihidrolipoamida acetiltransferasa del complejo piruvato deshidrogenasa Deficiencia de piruvato deshidrogenasa E2 Deficiencia del componente E2 del complejo piruvato deshidrogenasa Deficit dell'acetiltransferasi del residuo di diidrolipoilisina, componente del complesso della piruvato deidrogenasi Deficit della componente E2 del complesso della piruvato deidrogenasi Deficit della della diidrolipoamide acetiltransferasi, componente del complesso della piruvato deidrogenasi Dihydrolipoamid-S-Acetyltransferase-Mangel Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency Déficit de componente E2 del complejo piruvato deshidrogenasa Déficit de componente dihidrolipoamida acetiltransferasa del complejo piruvato deshidrogenasa Déficit de componente dihidrolipoil-lisina-residuo acetiltransferasa del complejo piruvato deshidrogenasa Déficit en composé E2 du complexe pyruvate déshydrogenase Déficit en composé dihydrolipoamide acétyltransférase du complexe pyruvate déshydrogénase Déficit en dihydrolipoyllysine-residue acétyltransférase du complexe pyruvate déshydrogénase PDH-E2-Mangel Pyruvate dehydrogenase complex component E2 deficiency Deficit di E2 della piruvato deidrogenasi Deficiência de E2 Déficit de piruvato deshidrogenasa E2 Déficit en pyruvate déshydrogénase E2 Pyruvat-Dehydrogenase E2-Mangel Pyruvate dehydrogenase E2 deficiency hrdo:pat_id_11272 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 608782 neant E74.4 79246 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficiencia de PDH fosfatasa Deficit della PDH fosfatasi Déficit en PDH phosphatase PDH Phosphatase-Mangel PDH phosphatase deficiency Deficiencia de piruvato deshidrogenasa fosfatasa Deficit della piruvato deidrogenasi fosfatasi Deficiência de PDH fosfatase Déficit en phosphatase du complexe pyruvate déshydrogénase Pyruvat-Dehydrogenase-Phosphatase-Mangel Pyruvate dehydrogenase phosphatase deficiency hrdo:pat_id_11279 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant E70.1 79253 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Mild PKU PCU atypique PCU modérée PKU leve PKU lieve PKU modérée PKU, milde Phenylketonurie, Variante Phénylcétonurie atypique Variant PKU Variant PKU Variant phenylketonuria Variante de la PKU Variante de la fenilcetonuria Variante della PKU Variante della fenilchetonuria mPCU mPKU mPKU mPKU mPKU mPKU Fenilcetonuria leve Fenilcetonúria atípica Fenilchetonuria lieve Mild phenylketonuria Phenylketonurie, milde Phénylcétonurie modérée hrdo:pat_id_11280 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant E70.0 79254 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Classic PKU Classic phenylketonuria Classical PKU PCU classique PKU classica PKU classique PKU clásica PKU, klassische Classical phenylketonuria Fenilcetonuria clásica Fenilcetonúria típica Fenilchetonuria classica Phenylketonurie, klassische Phénylcétonurie classique hrdo:pat_id_11281 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 230500 neant E75.1 79255 238026007 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 GM1-Gangliosidose, infantile Gangliosidose à GM1 infantile Gangliosidosi GM1 infantile Gangliosidosis GM1 infantil Infantile GM1 gangliosidosis GM1 gangliosidosis type 1 GM1-Gangliosidose Typ 1 Gangliosidose GM1 tipo 1 Gangliosidose à GM1 type 1 Gangliosidosi GM1, tipo 1 Gangliosidosis GM1 tipo 1 hrdo:pat_id_11282 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 230600 neant E75.1 79256 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown GM1-Gangliosidose, juvenile GM1-Gangliosidose, spät-infantile Gangliosidose à GM1 infantile tardive Gangliosidose à GM1 juvénile Gangliosidosi GM1 giovanile Gangliosidosi GM1 tardo-infantile Gangliosidosis GM1 infantil tardía Gangliosidosis GM1 juvenil Juvenile GM1 gangliosidosis Late-infantile GM1 gangliosidosis GM1 gangliosidosis type 2 GM1-Gangliosidose Typ 2 Gangliosidose GM1 tipo 2 Gangliosidose à GM1 type 2 Gangliosidosi GM1, tipo 2 Gangliosidosis GM1 tipo 2 hrdo:pat_id_11283 Variabel Variabile Variable Variable Variable Variable Variável 230650 neant E75.1 79257 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Adult-onset GM1 gangliosidosis GM1-Gangliosidose, mit Beginn im Erwachsenenalter Gangliosidose à GM1 de l'adulte Gangliosidosi GM1 dell'età adulta Gangliosidosis GM1 del adulto GM1 gangliosidosis type 3 GM1-Gangliosidose Typ 3 Gangliosidose GM1 tipo 3 Gangliosidose à GM1 type 3 Gangliosidosi GM1, tipo 3 Gangliosidosis GM1 tipo 3 hrdo:pat_id_11284 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 232200 neant E74.0 79258 clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficit di G6P, tipo a Déficit de G6P tipo a Déficit en G6P type a Enfermedad por almacenamiento de glucógeno por déficit de G6P tipo a Enfermedad por almacenamiento de glucógeno tipo a G6P deficiency type a GSD ad deficit di G6P, tipo a GSD due to G6P deficiency type a GSD por déficit de G6P tipo a GSD tipo 1a GSD type 1a GSD type 1a GSD, tipo 1a GSDIa GSDIa GSDIa GSDIa Glicogenosi Ia Glicogenosi, tipo Ia Glucogenosis Ia Glucogenosis tipo Ia Glycogen storage disease due to G6P deficiency type a Glycogen storage disease type 1a Glycogenosis due to glucose-6-phosphatase deficiency type a Glycogénose Ia Glycogénose de type 1a Glycogénose type Ia Ia glycogenosis Malattia da deposito di glicogeno dovuta a deficit di G6P, tipo a Malattia da deposito di glicogeno, tipo 1a Type Ia glycogenosis Doença do armazenamento de glicogénio tipo 1A Glicogenosi da deficit di glucosio-6-fosfatasi, tipo a Glucogenosis por déficit de glucosa-6-fosfatasa tipo a Glycogen storage disease due to glucose-6-phosphatase deficiency type a Glycogénose par déficit en glucose-6-phosphatase de type a Glykogenose Typ 1A hrdo:pat_id_11285 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 232220 232240 neant E74.0 79259 clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficit di G6P translocasi Deficit di G6P, tipo b Deficit di G6PT Déficit de G6P tipo b Déficit de G6P translocasa Déficit de G6PT Déficit en G6P translocase Déficit en G6P type b Déficit en G6PT Enfermedad de almacenamiento de glucógeno por déficit de G6P tipo b Enfermedad de almacenamiento de glucógeno tipo 1b G6P deficiency type b G6P translocase deficiency G6P-Mangel Typ b G6P-Translokase-Mangel G6PT deficiency G6PT-Mangel GSD Typ 1b GSD da deficit di G6P, tipo b GSD da deficit di G6PT GSD da deficit diG6PT GSD due to G6P deficiency type b GSD due to G6PT deficiency GSD durch G6P-Mangel Typ b GSD por déficit de G6P tipo b GSD por déficit de G6PT GSD tipo 1 no a GSD tipo 1b GSD type 1 non a GSD type 1b GSD type 1b GSD, tipo 1 non a GSD, tipo 1b GSDIb GSDIb GSDIb GSDIb GSDIb Glicogenosi Ib Glicogenosi da deficit di glucosio-6-fosfatasi, tipo b Glicogenosi da difetto del trasporto di glucosio-6-fosfatasi Glicogenosi, tipo Ib Glucogenosis Ib Glucogenosis por déficit de glucosa-6-fosfatasa tipo b Glucogenosis por un defecto en el transporte de la glucosa-6-fosfatasa Glucogenosis tipo Ib Glycogen storage disease due to G6P deficiency type b Glycogen storage disease type 1b Glycogenosis due to glucose-6-phosphatase deficiency type b Glycogenosis due to glucose-6-phosphatase transport defect Glycogénose Ib Glycogénose par défaut de transport du glucose-6-phosphatase Glycogénose type 1 non a Glycogénose type 1b Glycogénose type Ib Glykogen-Speicherkrankheit Typ 1b Glykogen-Speicherkrankheit durch G6P-Mangel Typ b Ib glycogenosis Malattia da deposito di glicogeno dovuta a deficit di G6P, tipo b Malattia da deposito di glicogeno, tipo 1b Type Ib glycogenosis Doença do armazenamento de glicogénio tipo 1B Enfermedad de almacenamiento de glucógeno por déficit de glucosa-6-fosfatasa tipo b Glycogen storage disease due to glucose-6-phosphatase deficiency type b Glycogénose par déficit en glucose-6-phosphatase de type b Glykogenose mit Glukose-6-Phosphatase-Mangel Typ b Malattia da deposito di glicogeno dovuta a deficit di glucosio-6-fosfatasi, tipo b hrdo:pat_id_11286 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant E74.0 79260 clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Type 1C glycogenosis Doença do armazenamento de glicogénio tipo 1C Glicogenosi, tipo 1C Glucogenosis tipo 1C Glycogen storage disease type 1C Glycogénose type 1C Glykogenose Typ 1C hrdo:pat_id_11287 neant E74.0 79261 clinical subtype Type 1D glycogenosis Doença do armazenamento de glicogénio tipo 1D Glicogenosi, tipo 1D Glucogenosis tipo 1D Glycogen storage disease type 1D Glycogénose type 1D Glykogenose Typ 1D hrdo:pat_id_11288 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 162350 204300 256730 610127 614706 C537950 neant E75.4 79262 62009002 C0022797 C2931675 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown ANCL ANCL Adult NCL CLN de l'adulte Enfermedad de Kufs Kufs disease Kufs-Krankheit LNC del adulto Maladie de Kufs Malattia di Kufs NCL de l'adulte NCL, adulte NDL dell'età adulta Adult neuronal ceroid lipofuscinosis Ceroid-Lipofuszinose, neuronale, adulte Ceroidolipofuscinosi neuronale dell'età adulta Céroïde-lipofuscinose neuronale de l'adulte Lipofuscinose ceróide neuronal, do adulto (doença de Kufs, CLN4) Lipofuscinosis neuronal ceroidea del adulto hrdo:pat_id_11289 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 214200 256730 C537948 neant E75.4 79263 58258004 C0268281 C2931673 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CLN infantile Enfermedad de Hagberg-Santavuori Hagberg-Santavuori disease Hagberg-Santavuori-Krankheit INCL INCL Infantile NCL LNC infantil Maladie de Hagberg-Santavuori Maladie de Santavuori Maladie de Santavuori-Haltia Malattia di Hagberg-Santavuori Malattia di Santavuori Malattia di Santavuori-Haltia NCL infantile NCL infantile NCL, infantile Santavuori disease Santavuori-Haltia disease Ceroid-Lipofuszinose, neuronale, infantile Ceroidolipofuscinosi neuronale infantile Céroïde-lipofuscinose neuronale infantile Infantile neuronal ceroid lipofuscinosis Lipofuscinose ceróide neuronal, do latente (doença de Hagberg-Santavuori, CLN1) Lipofuscinosis neuronal ceroidea infantil hrdo:pat_id_11290 Adulte jeune Adultos jóvenes Giovani adulti Jovem adulto Junge Erwachsene Young adult Young adult Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 204200 204500 256730 600143 609055 610127 10052073 neant E75.4 79264 61663001 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Batten disease Batten-Krankheit CLN juvénile Enfermedad de Batten Enfermedad de Spielmeyer-Vogt JNCL JNCL Juvenile NCL Maladie de Batten Maladie de Spielmeyer-Vogt Malattia di Batten Malattia di Spielmeyer-Vogt NCL giovanile NCL juvénile NCL, juvenile Spielmeyer-Vogt disease Spielmeyer-Vogt-Krankheit Ceroid-Lipofuszinose, neuronale, juvenile Ceroidolipofuscinosi neuronale giovanile Céroïde-lipofuscinose neuronale juvénile Juvenile neuronal ceroid lipofuscinosis Lipofuscinose ceróide neuronal, juvenil (doença de Batten, doença de Spielmeyer-Vogt, CLN3) Lipofuscinosis neuronal ceroidea juvenil hrdo:pat_id_11295 252900 neant E76.2 79269 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo etiological subtype 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Deficit di eparan-sulfamidasi Déficit de heparán sulfamidasa Déficit en héparane sulfamidase Heparan sulfamidase deficiency Mucopolisacaridosis tipo 3A Mucopolisaccaridosi, tipo 3A Mucopolysaccharidose type 3A Mucopolysaccharidosis type 3A Mukopolysaccharidose Typ 3A Maladie de Sanfilippo type A Sanfilippo syndrome type A Sanfilippo-Krankheit Typ A Sindrome di Sanfilippo, tipo A Síndrome de Sanfilippo tipo A Síndrome de Sanfilippo tipo A (Mucopolissacaridose tipo 3A) hrdo:pat_id_11296 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 252920 neant E76.2 79270 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo etiological subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficit di N-acetil-alfa-glucosaminidasi Déficit de N-acetil-alfa-glucosaminidasa Déficit en N-acétyl-alpha-glucosaminidase Mucopolisacaridosis tipo 3B Mucopolisaccaridosi, tipo 3B Mucopolysaccharidose type 3B Mucopolysaccharidosis type 3B Mukopolysaccharidose Typ 3B N-acetyl-alpha-glucosaminidase deficiency Maladie de Sanfilippo type B Sanfilippo syndrome type B Sanfilippo-Krankheit Typ B Sindrome di Sanfilippo, tipo B Síndrome de Sanfilippo tipo B Síndrome de Sanfilippo tipo B (Mucopolissacaridose tipo 3B) hrdo:pat_id_11297 252930 neant E76.2 79271 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo etiological subtype Deficit di HGSNAT Deficit di eparano-alfa-glucosaminide N-acetiltransferasi Déficit de HGSNAT Déficit de heparán-alfa-glucosaminida N-acetiltransferasa Déficit en HGSNAT Déficit en héparane-alpha-glucosaminide N-acétyltransférase HGSNAT deficiency Heparan-alpha-glucosaminide N-acetyltransferase deficiency Mucopolisacaridosis tipo 3C Mucopolisaccaridosi, tipo 3C Mucopolysaccharidose type 3C Mucopolysaccharidosis type 3C Mukopolysaccharidose Typ 3C Maladie de Sanfilippo type C Sanfilippo syndrome type C Sanfilippo-Krankheit Typ C Sindrome di Sanfilippo, tipo C Síndrome de Sanfilippo tipo C Síndrome de Sanfilippo tipo C (Mucopolissacaridose tipo 3C) hrdo:pat_id_11298 252940 neant E76.2 79272 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo etiological subtype Deficit di GNS Deficit di glusamina N-acetil-6-sulfatasi Déficit de GNS Déficit de N-acetil-glucosamina-6-sulfatasa Déficit en GNS Déficit en glucosamine N-acétyl-6-sulfatase GNS deficiency Glucosamine N-acetyl-6-sulfatase deficiency Mucopolisacaridosis tipo 3D Mucopolisaccaridosi, tipo 3D Mucopolysaccharidose type 3D Mucopolysaccharidosis type 3D Mukopolysaccharidose Typ 3D Maladie de Sanfilippo type D Sanfilippo syndrome type D Sanfilippo-Krankheit Typ D Sindrome di Sanfilippo, tipo D Síndrome de Sanfilippo tipo D Síndrome de Sanfilippo tipo D (Mucopolissacaridose tipo 3D) hrdo:pat_id_11299 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 121300 D046349 10019866 neant E80.2 79273 7425008 C0162531 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Coproporfiria ereditaria Coproporfiria hereditaria Coproporfiria hereditária Coproporphyrie héréditaire Hereditary coproporphyria Koproporphyrie, hereditäre hrdo:pat_id_11302 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 176000 D017118 neant E80.2 79276 234422006 C0162565 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Acute intermittent porphyria Porfiria aguda intermitente Porfiria aguda intermitente Porfiria intermittente acuta Porphyrie aiguë intermittente Porphyrie, akute intermittierende hrdo:pat_id_11303 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Variabel Variabile Variable Variable Variable Variable Variável 263700 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=congenital+erythropoietic+porphyria%5Bti%5D+OR+Porphyria,+Erythropoietic%5Bmh%5D E80.0 79277 22935002 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CEP CEP CEP CEP CEP Enfermedad de Günther Günther disease Günther disease Maladie de Günther Malattia di Günther Congenital erythropoietic porphyria Congenital erythropoietic porphyria Porfiria eritropoietica congenita Porfiria eritropoiética congénita Porfiria eritropoyética congénita Porphyrie érythropoïétique congénitale hrdo:pat_id_11304 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 177000 300752 D046351 10015289 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=protoporphyria,+erythropoietic%5Bmh%5D+OR+erythropoietic+protoporphyria%5Bti%5D E80.0 79278 51022005 C0162568 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 EPP EPP EPP EPP PPE XLDPP XLDPP XLDPP XLDPP XLDPP Erythropoietic protoporphyria Protoporfiria eritropoietica Protoporfiria eritropoiética Protoporfiria eritropoyética Protoporphyrie érythropoïétique Protoporphyrie, erythropoetische hrdo:pat_id_11305 609241 neant E77.1 79279 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Enfermedad de Schindler tipo 1 Maladie de Schindler type 1 Malattia di Schindler, tipo 1 NAGA tipo 1 NAGA type 1 NAGA type 1 NAGA, tipo 1 NAGA-Mangel Typ 1 Schindler disease type 1 Schindler-Krankheit Typ 1 Alpha-N-Acetylgalactosaminidase-Mangel Typ 1 Alpha-N-acetylgalactosaminidase deficiency type 1 Deficit di alfa-N-acetilgalattosaminidasi, tipo 1 Deficiência de alfa-N-acetilgalactosaminidase tipo 1 Déficit de alfa-N-acetilgalactosaminidasa tipo 1 Déficit en alpha-N-acétyl-galactosaminidase type 1 hrdo:pat_id_11306 609242 neant E77.1 79280 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Adult-onset Alpha-N-acetylgalactosaminidase deficiency Alpha-N-Acetylgalactosaminidase-Mangel, adulter Deficit di alfa-N-acetilgalattosaminidasi a esordio nell'adulto Déficit en alpha-N-acétyl-galactosaminidase type 2 Kanzaki disease Kanzaki-Krankheit Maladie de Kanzaki Maladie de Schindler type 2 Malattia di Kanzaki Malattia di Schindler, tipo 2 NACG type 2 NAGA type 2 NAGA, tipo 2 NAGA-Mangel Typ 2 Schindler disease type 2 Schindler-Krankheit Typ 2 Alpha-N-Acetylgalactosaminidase-Mangel Typ 2 Alpha-N-acetylgalactosaminidase deficiency type 2 Deficit di alfa-N-acetilgalattosaminidasi, tipo 2 Deficiência de alfa-N-acetilgalactosaminidase tipo 2 Déficit de alfa-N-acetilgalactosaminidasa tipo 2 Déficit en alpha-N-acétyl-galactosaminidase de l'adulte hrdo:pat_id_11307 609241 neant E77.1 79281 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Enfermedad de Schindler tipo 3 Maladie de Schindler type 3 Malattia di Schindler, tipo 3 NAGA tipo 3 NAGA type 3 NAGA type 3 NAGA, tipo 3 NAGA-Mangel Typ 3 Schindler disease type 3 Schindler-Krankheit Typ 3 Alpha-N-Acetylgalactosaminidase-Mangel Typ 3 Alpha-N-acetylgalactosaminidase deficiency type 3 Deficit di alfa-N-acetilgalattosaminidasi, tipo 3 Deficiência de alfa-N-acetilgalactosaminidase tipo 3 Déficit de alfa-N-acetilgalactosaminidasa tipo 3 Déficit en alpha-N-acétyl-galactosaminidase type 3 hrdo:pat_id_11308 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 277400 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(homocystinuria+OR+cystathionine+beta+synthase+deficiency%5Btw%5D)+(methylmalonic+acid+OR+methylmalonic+aciduria%5Btw%5D) E72.1 79282 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Aciduria metilmalonica con omocistinuria, tipo cblC Aciduria metilmalónica con homocistinuria, tipo cblC Acidurie méthylmalonique avec homocystinurie type cblC Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC Defecto combinado en la síntesis de adenosilcobalamina y metilcobalamina, tipo cblC Difetto combinato della sintesi dell'adenosilcobalamina e della metilcobalamina, tipo cblC Déficit combiné de synthèse de l'adénosylcobalamine et de la méthylcobalamine, type cblC Kombinierter Defekt der Adenosylcobalamin und Methylcobalamin-Synthese Typ cblC Methylmalonazidämie - Homocystinurie, Typ cbl C Methylmalonic aciduria with homocystinuria, type cblC Acidemia metilmalonica con omocistinuria, tipo cblC Acidemia metilmalónica - homocistinúria, tipo cbl C Acidemia metilmalónica con homocistinuria, tipo cblC Acidémie méthylmalonique avec homocystinurie type cblC Methylmalonazidurie - Homocystinurie, Typ cbl C Methylmalonic acidemia with homocystinuria, type cblC hrdo:pat_id_11309 Variabel Variabile Variable Variable Variable Variable Variável 277410 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(homocystinuria+OR+cystathionine+beta+synthase+deficiency%5Btw%5D)+(methylmalonic+acid+OR+methylmalonic+aciduria%5Btw%5D) E72.1 79283 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Aciduria metilmalonica con omocistinuria, tipo cblD Aciduria metilmalónica con homocistinuria, tipo cblD Acidurie méthylmalonique avec homocystinurie type cblD Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD Defecto combinado en la síntesis de adenosilcobalamina y metilcobalamina, tipo cblD Difetto combinato della sintesi dell'adenosilcobalamina e della metilcobalamina, tipo cblD Déficit combiné de synthèse de l'adénosylcobalamine et de la méthylcobalamine, type cblD Kombinierter Defekt der Adenosylcobalamin und Methylcobalamin-Synthese Typ cblD Methylmalonazidämie - Homocystinurie, Typ cbl D Methylmalonic aciduria with homocystinuria, type cblD Acidemia metilmalonica con omocistinuria, tipo cblD Acidemia metilmalónica - homocistinúria, tipo cbl D Acidemia metilmalónica con homocistinuria, tipo cblD Acidémie méthylmalonique avec homocystinurie type cblD Methylmalonazidurie - Homocystinurie, Typ cbl D Methylmalonic acidemia with homocystinuria, type cblD hrdo:pat_id_11310 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 277380 614857 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(homocystinuria+OR+cystathionine+beta+synthase+deficiency%5Btw%5D)+(methylmalonic+acid+OR+methylmalonic+aciduria%5Btw%5D) E72.1 79284 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Aciduria metilmalonica con omocistinuria, tipo cblF Aciduria metilmalónica con homocistinuria, tipo cblF Acidurie méthylmalonique avec homocystinurie type cblF Cobalamin-Transporter-Mangel der lysosomalen Membran Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF Defecto combinado en la síntesis de adenosilcobalamina y metilcobalamina, tipo cblF Deficiencia del transportador de cobalamina en la membrana lisosomal Difetto combinato della sintesi dell'adenosilcobalamina e della metilcobalamina, tipo cblF Difetto nel trasporto della cobalamina nella membrana lisosomiale Déficit combiné de synthèse de l'adénosylcobalamine et de la méthylcobalamine, type cblF Déficit de transmort de la cobalamine à la membrane lysosomale Déficit del transportador de cobalamina en la membrana lisosomal Kombinierter Defekt der Adenosylcobalamin und Methylcobalamin-Synthese Typ cblF Libération lysosomale défectueuse de la vitamine B12 Lysosomal membrane cobalamin transporter deficiency Methylmalonazidämie - Homocystinurie, Typ cblF Methylmalonic aciduria with homocystinuria, type cblF Vitamin-B12, Störung der lysosomalen Freisetzung Acidemia metilmalonica con omocistinuria, tipo cblF Acidemia metilmalónica con homocistinuria, tipo cblF Acidémie méthylmalonique avec homocystinurie type cblF Acidúria metilmalónica - homocistinúria, tipo cbl F Methylmalonazidurie - Homocystinurie, Typ cbl F Methylmalonic acidemia with homocystinuria, type cblF hrdo:pat_id_11315 79289 disease Enfermedad de Niemann-Pick tipo Nueva Escocia Maladie de Niemann-Pick type Nova Scotian Malattia di Niemann-Pick, tipo Nova Scotia Niemann-Pick disease, Nova Scotia type Niemann-Pick-Krankheit Typ Scotia Doença de Niemann-Pick D Enfermedad de Niemann-Pick tipo D Maladie de Niemann-Pick type D Malattia di Niemann-Pick, tipo D Niemann-Pick disease type D Niemann-Pick-Krankheit Typ D hrdo:pat_id_11318 Normal Normal Normal Normal Normal Normal Normale Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 136120 C538467 neant E78.6 79292 238092004 C0342895 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficiencia parcial de LCAT Déficit parcial de LCAT Déficit partiel en LCAT FED FED FED FED Ichtyophtalmie LCAT-Mangel, partieller Partial LCAT deficiency 'Malattia degli ''occhi da pesce''' Doença de olho de peixe Enfermedad del ojo de pez Fischaugen-Syndrom Fish-eye disease Maladie des yeux de poisson hrdo:pat_id_11319 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 245900 neant E78.6 79293 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Complete LCAT deficiency Deficit completo di LCAT Déficit complet en LCAT Déficit completo de LCAT Enfermedad de Norum FLD FLD FLD FLD FLD LCAT-Mangel, kompletter Maladie de Norum Malattia di Norum Norum disease Norum-Krankheit Deficit familiare di LCAT Deficiência familiar de LCAT Déficit familial complet en LCAT Déficit familiar de LCAT Familial LCAT deficiency LCAT-Mangel, familiärer hrdo:pat_id_1132 308200 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(deletion+OR+monosomy)+(Xp%5Bti%5D+OR+%22Xp22.3%22)+(Xpter+OR+pter%5Btw%5D+OR+terminal+deletion*%5Btw%5D+OR+terminal%5Bti%5D+OR+distal%5Bti%5D) Q99.8 1643 malformation syndrome Del(X)(p23) Del(X)(p23) Del(X)(p23) Del(X)(p23) Monossomia Xp22 pter Deleção Xp22 pter Mikrodeletion Xp22.3 Sindrome da microdelezione Xp22.3 Syndrome de microdéletion Xp22.3 Síndrome de microdeleción Xp22.3 Xp22.3 microdeletion syndrome hrdo:pat_id_11324 neant E16.1 79298 group of phenomes Hipoglucemia hiperinsulinémica, forma focal resistente al diazóxido Hyperinsulinemic hypoglycemia, diazoxide-resistant focal form Hyperinsulinämische Hypoglykämie, Diazoxid-resistente fokale Form Hypoglycémie hyperinsulinémique, forme focale résistante au diazoxide Ipoglicemia iperinsulinemica, forma focale resistente al diazoxide Diazoxide-resistant focal hyperinsulinism Hiperinsulinismo focal resistente al diazóxido Hiperinsulinismo por hiperplasia adenomatosa focal Hyperinsulinisme focal résistant au diazoxide Hyperinsulinismus, fokaler, Diazoxid-resistanter Iperinsulinismo focale resistente al diazoxide hrdo:pat_id_11325 602485 neant E16.1 79299 disease Hipoglucemia hiperinsulinémica por déficit de glucoquinasa Hyperinsulinemic hypoglycemia due to glucokinase deficiency Hyperinsulinämische Hypoglykämie durch Glukokinase-Mangel Hypoglycémie hyperinsulinémique par déficit en glucokinase Ipoglicemia iperinsulinemica da deficit di glucochinasi Hiperinsulinismo por deficiência de glucocinase Hiperinsulinismo por déficit de glucoquinasa Hyperinsulinism due to glucokinase deficiency Hyperinsulinisme par déficit en glucokinase Hyperinsulinismus durch Glukokinase-Mangel Iperinsulinismo da deficit di glucochinasi hrdo:pat_id_11327 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 607765 C535442 neant K76.8 79301 C1843116 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency Déficit en 3-béta-hydroxy-delta-5-C27-steroïde oxydoréductase Congenital bile acid synthesis defect type 1 Defecto congénito en la síntesis de ácidos biliares tipo 1 Deficiência na síntese de ácidos biliares, congénita 1 Difetto congenito della sintesi degli acidi biliari, tipo 1 Déficit congénital de synthèse des acides biliaires type 1 Gallensäuresynthesedefekt, kongenitaler, Typ 1 hrdo:pat_id_11328 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613812 neant K76.8 79302 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Déficit en oxystérol 7-alpha-hydroxylase Oxysterol 7-alpha-hydroxylase deficiency Congenital bile acid synthesis defect type 3 Defecto congénito en la síntesis de ácidos biliares tipo 3 Deficiência na síntese de ácidos biliares, congénita 2 Difetto congenito della sintesi degli acidi biliari, tipo 3 Déficit congénital de synthèse des acides biliaires type 3 Gallensäuresynthesedefekt, kongenitaler, Typ 3 hrdo:pat_id_11329 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 235555 C535443 neant K76.8 79303 C1856127 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cholestase associée au déficit en delta(4)-3-oxosteroid 5-béta-reductase Cholestasis, with delta(4)-3-oxosteroid 5-beta-reductase deficiency Congenital bile acid synthesis defect type 2 Defecto congénito en la síntesis de ácidos biliares tipo 2 Deficiência na síntese de ácidos biliares, congénita 3 Difetto congenito della sintesi degli acidi biliari, tipo 2 Déficit congénital de synthèse des acides biliaires type 2 Gallensäuresynthesedefekt, kongenitaler, Typ 2 hrdo:pat_id_11330 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601847 C535934 neant K83.1 79304 C1866138 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 BSEP deficiency Deficit di BSEP Déficit de BSEP Déficit en BSEP PFIC2 PFIC2 PFIC2 PFIC2 Cholestase intrahépatique familiale progressive type 2 Cholestase, intrahepatische progressive, familiäre, Typ 2 Colestase intra-hepática progressiva familiar tipo 2 Colestasi intraepatica familiare progressiva, tipo 2 Colestasis intrahepática familiar progresiva de tipo 2 Progressive familial intrahepatic cholestasis type 2 hrdo:pat_id_11331 Variabel Variabile Variable Variable Variable Variable Variável 602347 C535935 neant K83.1 79305 C1865643 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 PFIC3 PFIC3 PFIC3 PFIC3 Cholestase intrahépatique familiale progressive type 3 Cholestase, intrahepatische progressive, familiäre, Typ 3 Colestase intra-hepática progressiva familiar tipo 3 Colestasi intraepatica familiare progressiva, tipo 3 Colestasis intrahepática familiar progresiva de tipo 3 Progressive familial intrahepatic cholestasis type 3 hrdo:pat_id_11332 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 211600 C535933 neant K83.1 79306 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Byler disease Deficit di FIC1 Déficit de FIC1 Déficit en FIC1 Enfermedad de Byler FIC1 deficiency Maladie de Byler Malattia di Byler PFIC1 PFIC1 PFIC1 PFIC1 Cholestase intrahépatique familiale progressive type 1 Cholestase, intrahepatische progressive, familiäre, Typ 1 Colestase intra-hepática progressiva familiar tipo 1 Colestasi intraepatica familiare progressiva, tipo 1 Colestasis intrahepática familiar progresiva de tipo 1 Progressive familial intrahepatic cholestasis type 1 hrdo:pat_id_11336 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 251100 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=methylmalonic+acid%5Bmajr%5D+AND+vitamin+b+12%5Bmajr%5D+NOT+methylmalonyl-coa+mutase/df%5Bmh%5D E71.1 79310 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Aciduria metilmalonica sensibile alla vitamina B12, tipo cblA Aciduria metilmalónica, vitamina B12 sensible, tipo cbl A Acidurie méthylmalonique sensible à la vitamine B12 type cblA Methylmalonazidurie, Vitamin-B12-sensible Form, Typ cbl A Vitamin B12-responsive methylmalonic aciduria type cblA Acidemia metilmalonica sensibile alla vitamina B12, tipo cblA Acidemia metilmalónica, vitamina B12 sensible, tipo cbl A Acidémia metilmalónica sensível à vitamina B12 tipo cbl A Acidémie méthylmalonique sensible à la vitamine B12 type cblA Methylmalonazidämie, Vitamin-B12-sensible Form, Typ cbl A Vitamin B12-responsive methylmalonic acidemia type cblA hrdo:pat_id_11337 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 251110 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=methylmalonic+acid%5Bmajr%5D+AND+vitamin+b+12%5Bmajr%5D+NOT+methylmalonyl-coa+mutase/df%5Bmh%5D E71.1 79311 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Aciduria metilmalonica sensibile alla vitamina B12, tipo cblB Aciduria metilmalónica, vitamina B12 sensible, tipo cbl B Acidurie méthylmalonique sensible à la vitamine B12 type cblB Methylmalonazidurie, Vitamin-B12-sensible Form, Typ cbl B Vitamin B12-responsive methylmalonic aciduria, type cblB Acidemia metilmalonica sensibile alla vitamina B12, tipo cblB Acidemia metilmalónica, vitamina B12 sensible, tipo cbl B Acidémia metilmalónica sensível à vitamina B12 tipo cbl B Acidémie méthylmalonique sensible à la vitamine B12 type cblB Methylmalonazidämie, Vitamin-B12-sensible Form, Typ cbl B Vitamin B12-responsive methylmalonic acidemia type cblB hrdo:pat_id_11338 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 251000 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=methylmalonic+acid%5Bmajr%5D+AND+vitamin+b+12%5Bmajr%5D+NOT+methylmalonyl-coa+mutase/df%5Bmh%5D E71.1 79312 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Acidemia metilmalonica resistente alla vitamina B12, tipo mut- Acidemia metilmalónica resistente a vitamina B12 tipo mut- Aciduria metilmalonica resistente alla vitamina B12, tipo mut- Aciduria metilmalónica resistente a vitamina B12 tipo mut- Acidurie méthylmalonique résistante à la vitamine B12 type mut- Deficiencia parcial de metilmalonil-CoA mutasa Déficit parcial de metilmalonil-CoA mutasa Déficit partiel en méthylmalonyl-CoA mutase Methylmalonazidurie, Vitamin B12-resistente, Typ mut- Methylmalonazidurie, Vitamin-B12-sensible Form, Typ mut- Methylmalonazidämie, Vitamin B12-resistente, Typ mut- Methylmalonazidämie, Vitamin-B12-sensible Form, Typ mut- Partial deficiency of methylmalonyl-CoA mutase Vitamin B12-unresponsive methylmalonic aciduria type mut- Acidemia metilmalónica resistente a vitamina B12 tipo mut- Acidémia metilmalónica sensível à vitamina B12 tipo mut- Acidémie méthylmalonique isolée résistante à la vitamine B12 type mut- Deficit parziale della metilmalonil-CoA mutasi Methylmalonyl-CoA-Mutase, partieller Mangel Vitamin B12-unresponsive methylmalonic acidemia type mut- hrdo:pat_id_11340 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 236792 neant E72.8 79314 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acidemia L-2-hidroxiglutárica Acidemia L-2-idrossiglutarica Acidémie L-2-hydroxyglutarique L-2-HGA L-2-HGA L-2-HGA L-2-HGA L-2-HGA L-2-Hydroxyglutaryl-Azidämie L-2-hydroxyglutaric acidemia Aciduria L-2-hidroxiglutárica Aciduria L-2-idrossiglutarica Acidurie L-2-hydroxyglutarique Acidúria L-2-hidroxiglutárica L-2-Hydroxyglutaryl-Azidurie L-2-hydroxyglutaric aciduria hrdo:pat_id_11341 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 600721 613657 neant E72.8 79315 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acidemia D-2-hidroxiglutárica Acidemia D-2-idrossiglutarica Acidémie D-2-hydroxyglutarique D-2-HGA D-2-HGA D-2-HGA D-2-HGA D-2-HGA D-2-Hydroxyglutaryl-Azidämie D-2-hydroxyglutaric acidemia Aciduria D-2-hidroxiglutárica Aciduria D-2-idrossiglutarica Acidurie D-2-hydroxyglutarique Acidúria D-2-hidroxiglutárica D-2-Hydroxyglutaryl-Azidurie D-2-hydroxyglutaric aciduria hrdo:pat_id_11342 261680 neant E74.4 79316 etiological subtype Deficit di PEPCK1 Déficit de PEPCK1 Déficit en PEPCK1 PEPCK1 deficiency PEPCK1-Mangel Deficit di fosfoenolpiruvato carbossichinasi 1 Deficiência de fosfoenolpiruvato carboxicinase 1 (Pepck1) Déficit de fosfoenol piruvato carboxiquinasa 1 Déficit en phosphoénolpyruvate carboxykinase type 1 Phosphoenolpyruvat-Carboxykinase 1-Mangel Phosphoenolpyruvate carboxykinase 1 deficiency hrdo:pat_id_11343 261650 C536655 neant E74.4 79317 C2931278 etiological subtype Deficit di PEPCK2 Déficit de PEPCK2 Déficit en PEPCK2 PEPCK2 deficiency PEPCK2-Mangel Deficit di fosfoenolpiruvato carbossichinasi 2 Deficiência de fosfoenolpiruvato carboxicinase 2 (Pepck2) Déficit de fosfoenol piruvato carboxiquinasa 2 Déficit en phosphoénolpyruvate carboxykinase type 2 Phosphoenolpyruvat-Carboxykinase 2-Mangel Phosphoenolpyruvate carboxykinase 2 deficiency hrdo:pat_id_11344 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 212065 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Congenital+disorder+AND+glycosylation+AND+Ia%5Bti%5D%29+OR+%28CDG-Ia%5BAll+Fields%5D%29 E77.8 79318 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Anomalie congénitale de la glycosylation type 1a Anomalie congénitale de la glycosylation type Ia CDG syndrome type Ia CDG-Ia CDG-Ia CDG-Ia CDG1A CDG1A CDG1A CDG1A CDG1A CDGI-a Carbohydrate deficient glycoprotein syndrome type Ia Congenital disorder of glycosylation type 1a Congenital disorder of glycosylation type Ia Deficit di fosfomannomutasi 2 Disturbo congenito della glicosilazione, tipo 1a Disturbo congenito della glicosilazione, tipo Ia Déficit de fosfomanomutasa 2 Déficit en phosphomannomutase 2 Kohlenhydrat-defizientes Glykoprotein-Syndrom Ia Kongenitaler Defekt der Glycoproteinbiosynthese Typ Ia Phosphomannomutase 2 deficiency Sindrome CDG, tipo Ia Sindrome delle glicoproteine carenti in carboidrati, tipo Ia Syndrome CDG type Ia Syndrome des glycoprotéines déficientes en hydrates de carbone type Ia Síndrome CDG tipo Ia Síndrome de glicoproteínas deficientes en carbohidratos tipo Ia Trastorno congénito de la glicosilación tipo 1a Trastorno congénito de la glicosilación tipo Ia CDG-Syndrom Typ Ia PMM2-CDG syndrome Sindrome PMM2-CDG Syndrome PMM2-CDG Síndrome PMM2-CDG Síndrome das CDG tipo Ia hrdo:pat_id_11345 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 602579 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Congenital+disorder+AND+glycosylation+AND+Ib%5Bti%5D%29+OR+%28CDG-Ib%5BAll+Fields%5D%29 E77.8 79319 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anomalie congénitale de la glycosylation type 1b Anomalie congénitale de la glycosylation type Ib CDG syndrome type Ib CDG-Ib CDG-Ib CDG-Ib CDG-Ib CDG1B CDG1B CDG1B CDG1B CDG1B Carbohydrate deficient glycoprotein syndrome type Ib Congenital disorder of glycosylation type 1b Congenital disorder of glycosylation type Ib Deficit di fosfomannosio isomerasi Disturbo congenito della glicosilazione, tipo 1b Disturbo congenito della glicosilazione, tipo Ib Déficit de fosfomanosa isomerasa Déficit en phosphomannose isomerase Kohlenhydrat-defizientes Glykoprotein-Syndrom Typ Ib Kongenitaler Defekt der Glycoproteinbiosynthese Typ Ib Phosphomannose isomerase deficiency Sindrome CDG, tipo Ib Sindrome delle glicoproteine carenti in carboidrati, tipo Ib Syndrome CDG type Ib Syndrome des glycoprotéines déficientes en hydrates de carbone type Ib Síndrome CDG tipo Ib Síndrome de glicoproteínas deficientes en carbohidratos tipo Ib Trastorno congénito de la glicosilación tipo 1b Trastorno congénito de la glicosilación tipo Ib CDG-Syndrom Typ Ib MPI-CDG syndrome Sindrome MPI-CDG Syndrome MPI-CDG Síndrome MPI-CDG Síndrome das CDG tipo Ib hrdo:pat_id_11346 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 603147 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Congenital+disorder+AND+glycosylation+AND+Ic%5Bti%5D%29+OR+%28Carbohydrate+deficient+glycoprotein+syndrome+AND+type+AND+V%29 E77.8 79320 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anomalie congénitale de la glycosylation type 1c Anomalie congénitale de la glycosylation type Ic CDG syndrome type Ic CDG-Ic CDG-Ic CDG-Ic CDG-Ic CDG1C CDG1C CDG1C CDG1C CDG1C Carbohydrate deficient glycoprotein syndrome type Ic Congenital disorder of glycosylation type 1c Congenital disorder of glycosylation type Ic Deficit di glucosiltransferasi 1 Disturbo congenito della glicosilazione, tipo Ic Disturbo congenito della glisosilazione, tipo 1c Déficit de glucosiltransferasa 1 Déficit en glucosyltransférase 1 Glucosyltransferase 1 deficiency Kohlenhydrat-defizientes Glykoprotein-Syndrom Typ Ic Kongenitaler Defekt der Glycoproteinbiosynthese Typ Ic Sindrome CDG, tipo Ic Sindrome delle glicoproteine carenti in carboidrati, tipo Ic Syndrome CDG type Ic Syndrome des glycoprotéines déficientes en hydrates de carbone type Ic Síndrome CDG tipo Ic Síndrome de glicoproteínas deficientes en carbohidratos tipo Ic Trastorno congénito de la glicosilación tipo 1c Trastorno congénito de la glicosilación tipo Ic ALG6-CDG syndrome CDG-Syndrom Typ Ic Sindrome ALG6-CDG Syndrome ALG6-CDG Síndrome ALG6-CDG Síndrome das CDG tipo Ic hrdo:pat_id_11347 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601110 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Congenital+disorder+AND+glycosylation+AND+Id%5Bti%5D%29+OR+%28Carbohydrate+deficient+glycoprotein+syndrome+AND+type+AND+IV%29 E77.8 79321 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anomalie congénitale de la glycosylation type 1d Anomalie congénitale de la glycosylation type Id CDG syndrome type Id CDG-Id CDG-Id CDG-Id CDG-Id CDG1D CDG1D CDG1D CDG1D CDG1D Carbohydrate deficient glycoprotein syndrome type Id Congenital disorder of glycosylation type 1d Congenital disorder of glycosylation type Id Deficit di mannosiltransferasi 6 Disturbo congenito della glicosilazione, tipo 1d Disturbo congenito della glicosilazione, tipo Id Déficit de manosiltransferasa 6 Déficit en mannosyltransférase 6 Kohlenhydrat-defizientes Glykoprotein-Syndrom Id Kongenitaler Defekt der Glycoproteinbiosynthese Typ Id Mannosyltransferase 6 deficiency Sindrome CDG, tipo Id Sindrome delle glicoproteine carenti in carboidrati, tipo Id Syndrome CDG type Id Syndrome des glycoprotéines déficientes en hydrates de carbone type Id Síndrome CDG tipo Id Síndrome de glicoproteínas deficientes en carbohidratos tipo Id Trastorno congénito de la glicosilación tipo 1d Trastorno congénito de la glicosilación tipo Id ALG3-CDG syndrome CDG-Syndrom Typ Id Sindrome ALG3-CDG Syndrome ALG3-CDG Síndrome ALG3-CDG Síndrome das CDG tipo Id hrdo:pat_id_11348 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 608799 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Congenital+disorder+AND+glycosylation+AND+Ie%5Bti%5D%29+OR+%28congenital+disorder+AND+glycosylation+AND+type+AND+le%29 E77.8 79322 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anomalie congénitale de la glycosylation type 1e Anomalie congénitale de la glycosylation type Ie CDG syndrome type Ie CDG-Ie CDG-Ie CDG-Ie CDG-Ie CDG1E CDG1E CDG1E CDG1E CDG1E Carbohydrate deficient glycoprotein syndrome type Ie Congenital disorder of glycosylation type 1e Congenital disorder of glycosylation type Ie Deficit di dol-P-mannosiltransferasi Disturbo congenito della glicosilazione, tipo 1e Disturbo congenito della glicosilazione, tipo Ie Dol-P-mannosyltransferase deficiency Déficit de Dol-P-manosiltransferasa Déficit en Dol-P-mannosyltransférase Kohlenhydrat-defizientes Glykoprotein-Syndrom Ie Kongenitaler Defekt der Glycoproteinbiosynthese Typ Ie Sindrome CDG, tipo Ie Sindrome delle glicoproteine carenti in carboidrati, tipo Ie Syndrome CDG type Ie Syndrome des glycoprotéines déficientes en hydrates de carbone type Ie Síndrome CDG tipo Ie Síndrome de glicoproteínas deficientes en carbohidratos tipo Ie Trastorno congénito de la glicosilación tipo 1e Trastorno congénito de la glicosilación tipo Ie CDG-Syndrom Typ Ie DPM1-CDG syndrome Sindrome DPM1-CDG Syndrome DPM1-CDG Síndrome DPM1-CDG Síndrome das CDG tipo Ie hrdo:pat_id_11349 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 609180 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=CDG-If%5BAll+Fields%5D+AND+MPDU1%5BAll+Fields%5D E77.8 79323 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anomalie congénitale de la glycosylation type 1f Anomalie congénitale de la glycosylation type If CDG syndrome type If CDG-If CDG-If CDG-If CDG-If CDG1F CDG1F CDG1F CDG1F CDG1F Carbohydrate deficient glycoprotein syndrome type If Congenital disorder of glycosylation type 1f Congenital disorder of glycosylation type If Disturbo congenito della glicosilazione, tipo 1f Disturbo congenito della glicosilazione, tipo If Kohlenhydrat-defizientes Glykoprotein-Syndrom If Kongenitaler Defekt der Glycoproteinbiosynthese Typ If Sindrome CDG, tipo If Sindrome delle glicoproteine carenti in carboidrati, tipo If Syndrome CDG type If Syndrome des glycoprotéines déficientes en hydrates de carbone type If Síndrome CDG tipo If Síndrome de glicoproteínas deficientes en carbohidratos tipo If Trastorno congénito de la glicosilación tipo 1f Trastorno congénito de la glicosilación tipo If CDG-Syndrom Typ If MPDU1-CDG syndrome Sindrome MPDU1-CDG Syndrome MPDU1-CDG Síndrome MPDU1-CDG Síndrome das CDG tipo If hrdo:pat_id_11350 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 607143 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Congenital+disorder+AND+glycosylation+AND+Ig%5Bti%5D%29+OR+%28congenital+disorder+AND+glycosylation+AND+type+AND+lg%29 E77.8 79324 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anomalie congénitale de la glycosylation 1g Anomalie congénitale de la glycosylation Ig CDG syndrome type Ig CDG-Ig CDG-Ig CDG-Ig CDG-Ig CDG1G CDG1G CDG1G CDG1G CDG1G Carbohydrate deficient glycoprotein syndrome Ig Congenital disorder of glycosylation 1g Congenital disorder of glycosylation Ig Deficit di mannosiltransferasi 8 Disturbo congenito della glicosilazione, tipo 1g Disturbo congenito della glicosilazione, tipo Ig Déficit de manosiltransferasa 8 Déficit en mannosyltransférase 8 Kohlenhydrat-defizientes Glykoprotein-Syndrom Ig Kongenitaler Defekt der Glycoproteinbiosynthese Typ Ig Mannosyltransferase 8 deficiency Sindrome CDG, tipo Ig Sindrome delle glicoproteine carenti in carboidrati, tipo Ig Syndrome CDG type Ig Syndrome des glycoprotéines déficientes en hydrates de carbone Ig Síndrome CDG tipo Ig Síndrome de glicoproteínas deficientes en carbohidratos tipo Ig Trastorno congénito de la glicosilación tipo 1g Trastorno congénito de la glicosilación tipo Ig ALG12-CDG syndrome CDG-Syndrom Typ Ig Sindrome ALG12-CDG Syndrome ALG12-CDG Síndrome ALG12-CDG Síndrome das CDG tipo Ig hrdo:pat_id_11351 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 608104 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Congenital+AND+glycosylation+AND+Ih%5Bti%5D%29+OR+%28congenital+AND+glycosylation+AND+lh%29+OR+%28dolichyl-P-glucose+AND+deficiency%29 E77.8 79325 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anomalie congénitale de la glycosylation 1h Anomalie congénitale de la glycosylation Ih CDG syndrome type Ih CDG-Ih CDG-Ih CDG-Ih CDG-Ih CDG1H CDG1H CDG1H CDG1H CDG1H Carbohydrate deficient glycoprotein syndrome Ih Congenital disorder of glycosylation 1h Congenital disorder of glycosylation Ih Deficit di glucosiltransferasi 2 Disturbo congenito della glicosilazione, tipo 1h Disturbo congenito della glicosilazione, tipo Ih Déficit de glucosiltransferasa 2 Déficit en glucosyltransférase 2 Glucosyltransferase 2 deficiency Kohlenhydrat-defizientes Glykoprotein-Syndrom Ih Kongenitaler Defekt der Glycoproteinbiosynthese Typ Ih Sindrome CDG, tipo Ih Sindrome delle glicoproteine carenti in carboidrati, tipo Ih Syndrome CDG type Ih Syndrome des glycoprotéines déficientes en hydrates de carbone Ih Síndrome CDG tipo Ih Síndrome de glicoproteínas deficientes en carbohidratos tipo Ih Trastorno congénito de la glicosilación tipo 1h Trastorno congénito de la glicosilación tipo Ih ALG8-CDG syndrome CDG-Syndrom Typ Ih Sindrome ALG8-CDG Syndrome ALG8-CDG Síndrome ALG8-CDG Síndrome das CDG tipo Ih hrdo:pat_id_11352 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 607906 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=CDG-Ii%5Bti%5D E77.8 79326 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anomalie congénitale de la glycosylation 1i Anomalie congénitale de la glycosylation Ii CDG syndrome type Ii CDG-Ii CDG-Ii CDG-Ii CDG1I CDG1I CDG1I CDG1I CDG1I CDGI-i Carbohydrate deficient glycoprotein syndrome Ii Congenital disorder of glycosylation 1i Congenital disorder of glycosylation Ii Deficit di mannosiltransferasi 2 Disturbo congenito della glicosilazione, tipo 1i Disturbo congenito della glicosilazione, tipo Ii Déficit de manosiltransferasa 2 Déficit en mannosyltransférase 2 Kohlenhydrat-defizientes Glykoprotein-Syndrom Ii Kongenitaler Defekt der Glycoproteinbiosynthese Typ Ii Mannosyltransferase 2 deficiency Sindrome CDG, tipo Ii Sindrome delle glicoproteine carenti in carboidrati, tipo Ii Syndrome CDG type Ii Syndrome des glycoprotéines déficientes en hydrates de carbone Ii Síndrome CDG tipo Ii Síndrome de glicoproteínas deficientes en carbohidratos tipo Ii Trastorno congénito de la glicosilación tipo 1i Trastorno congénito de la glicosilación tipo Ii ALG2-CDG syndrome CDG-Syndrom Typ Ii Sindrome ALG2-CDG Syndrome CDG-ALG2 Síndrome ALG2-CDG Síndrome das CDG tipo Ii hrdo:pat_id_11353 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 608540 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Congenital+disorder+AND+glycosylation+AND+Ik%5Bti%5D%29+OR+%28congenital+disorder+AND+glycosylation+AND+type+AND+lk%29 E77.8 79327 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anomalie congénitale de la glycosylation type 1k Anomalie congénitale de la glycosylation type Ik CDG syndrome type Ik CDG-Ik CDG-Ik CDG-Ik CDG-Ik CDG1K CDG1K CDG1K CDG1K CDG1K Carbohydrate deficient glycoprotein syndrome type Ik Congenital disorder of glycosylation type 1k Congenital disorder of glycosylation type Ik Deficit di mannosiltransferasi 1 Disturbo congenito della glicosilazione, tipo 1k Disturbo congenito della glicosilazione, tipo Ik Déficit de manosiltransferasa 1 Déficit en mannosyltransférase 1 Kohlenhydrat-defizientes Glykoprotein-Syndrom Ik Kongenitaler Defekt der Glycoproteinbiosynthese Typ Ik Mannosyltransferase 1 deficiency Sindrome CDG, tipo Ik Sindrome delle glicoproteine carenti in carboidrati, tipo Ik Syndrome CDG type Ik Syndrome des glycoprotéines déficientes en hydrates de carbone type Ik Síndrome CDG tipo Ik Síndrome de glicoproteínas deficientes en carbohidratos tipo Ik Trastorno congénito de la glicosilación tipo 1k Trastorno congénito de la glicosilación tipo Ik ALG1-CDG syndrome CDG-Syndrom Typ Ik Sindrome ALG1-CDG Syndrome ALG1-CDG Síndrome ALG1-CDG Síndrome das CDG tipo Ik hrdo:pat_id_11354 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 608776 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Congenital+disorder+AND+glycosylation+AND+Il%5Bti%5D%29+OR+%28congenital+disorder+AND+glycosylation+AND+type+AND+ll%29 E77.8 79328 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anomalie congénitale de la glycosylation type 1L Anomalie congénitale de la glycosylation type IL CDG syndrome type IL CDG-IL CDG-IL CDG-IL CDG-IL CDG1L CDG1L CDG1L CDG1L CDG1L Carbohydrate deficient glycoprotein syndrome type IL Congenital disorder of glycosylation type 1L Congenital disorder of glycosylation type IL Deficit di mannosiltransferasi 7-9 Disturbo congenito della glicosilazione, tipo 1L Disturbo congenito della glicosilazione, tipo IL Déficit de manosiltransferasa 7-9 Déficit en mannosyltransférase 7-9 Kohlenhydrat-defizientes Glykoprotein-Syndrom IL Kongenitaler Defekt der Glycoproteinbiosynthese Typ IL Mannosyltransferase 7-9 deficiency Sidrome CDG, tipo IL Sindrome delle glicoproteine carenti in carboidrati, tipo IL Syndrome CDG type IL Syndrome des glycoprotéines déficientes en hydrates de carbone type IL Síndrome CDG tipo IL Síndrome de glicoproteínas deficientes en carbohidratos tipo IL Trastorno congénito de la glicosilación tipo 1L Trastorno congénito de la glicosilación tipo IL ALG9-CDG syndrome CDG-Syndrom Typ Il Sindrome ALG9-CDG Syndrome ALG9-CDG Síndrome ALG9-CDG Síndrome das CDG tipo II hrdo:pat_id_11355 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 212066 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28carbohydrate-deficient+glycoprotein+AND+II+AND+N-acetyl-glucosaminyltransferase%29+OR+%28Congenital+disorders+glycosylation+AND+IIa%29 E77.8 79329 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anomalie congénitale de la glycosylation type 2a Anomalie congénitale de la glycosylation type IIa CDG syndrome type IIa CDG-IIa CDG-IIa CDG-IIa CDG-IIa CDG2A CDG2A CDG2A CDG2A CDG2A Carbohydrate deficient glycoprotein syndrome type IIa Congenital disorder of glycosylation type 2a Congenital disorder of glycosylation type IIa Deficit di N-acetilglucosaminiltransferasi 2 Disturbo congenito della glicosilazione, tipo 2a Disturbo congenito della glicosilazione, tipo IIa Déficit en N-acétylglucosaminyltransférase 2 Kohlenhydrat-defizientes Glykoprotein-Syndrom IIa Kongenitaler Defekt der Glycoproteinbiosynthese Typ IIa N-acetylglucosaminyltransferase 2 deficiency Sindrome CDG, tipo IIa Sindrome delle glicoproteine carenti in carboidrati, tipo IIa Syndrome CDG type IIa Syndrome des glycoprotéines déficientes en hydrates de carbone type IIa Síndrome CDG tipo IIa Síndrome de glicoproteínas deficientes en carbohidratos tipo IIa Trastorno congénito de la glicosilación tipo 2a Trastorno congénito de la glicosilación tipo IIa CDG-Syndrom Typ IIa MGAT2-CDG syndrome Sindrome MGAT2-CDG Syndrome MGAT2-CDG Síndrome MGAT2-CDG Síndrome das CDG tipo IIa hrdo:pat_id_11356 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 606056 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=CDG+IIb%5Btw%5D E77.8 79330 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anomalie congénitale de la glycosylation type 2b Anomalie congénitale de la glycosylation type IIb CDG syndrome type IIb CDG-IIb CDG-IIb CDG-IIb CDG-IIb CDG2B CDG2B CDG2B CDG2B CDG2B Carbohydrate deficient glycoprotein syndrome type IIb Congenital disorder of glycosylation type 2b Congenital disorder of glycosylation type IIb Deficit di glucosidasi 1 Disturbo congenito della glicosilazione, tipo 2b Disturbo congenito della glicosilazione, tipo IIb Déficit de glucosidasa 1 Déficit en glucosidase 1 Glucosidase 1 deficiency Kohlenhydrat-defizientes Glykoprotein-Syndrom IIb Kongenitaler Defekt der Glycoproteinbiosynthese Typ IIb Sindrome CDG, tipo IIb Sindrome delle glicoproteine carenti in carboidrati, tipo IIb Syndrome CDG type IIb Syndrome des glycoprotéines déficientes en hydrates de carbone type IIb Síndrome CDG tipo IIb Síndrome de glicoproteínas deficientes en carbohidratos tipo IIb Trastorno congénito de la glicosilación tipo 2b Trastorno congénito de la glicosilación tipo IIb CDG-Syndrom Typ IIb GCS1-CDG syndrome Sindrome GCS1-CDG Syndrome GCS1-CDG Síndrome GCS1-CDG Síndrome das CDG tipo IIb hrdo:pat_id_11358 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 607091 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(IId+glycosylation)+OR+CDG+IId%5Btw%5D E77.8 79332 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anomalie congénitale de la glycosylation type 2d Anomalie congénitale de la glycosylation type IId Beta-1,4-galactosyltransferase deficiency CDG syndrome type IId CDG-IId CDG-IId CDG-IId CDG-IId CDG2D CDG2D CDG2D CDG2D CDG2D Carbohydrate deficient glycoprotein syndrome type IId Congenital disorder of glycosylation type 2d Congenital disorder of glycosylation type IId Deficit di beta-1,4-galattosiltransferasi Disturbo congenito della glicosilazione, tipo 2d Disturbo congenito della glicosilazione, tipo IId Déficit de beta-1,4-galactosiltransferasa Déficit en bêta-1,4-galactosyltransférase Kohlenhydrat-defizientes Glykoprotein-Syndrom IId Kongenitaler Defekt der Glycoproteinbiosynthese Typ IId Sindrome CDG, tipo IId Sindrome delle glicoproteine carenti in carboidrati, tipo IId Syndrome CDG type IId Syndrome des glycoprotéines déficientes en hydrates de carbone type IId Síndrome CDG tipo IId Síndrome de glicoproteínas deficientes en carbohidratos tipo IId Trastorno congénito de la glicosilación tipo 2d Trastorno congénito de la glicosilación tipo IId B4GALT1-CDG syndrome CDG-Syndrom Typ IId Sindrome B4GALT1-CDG Syndrome B4GALT1-CDG Síndrome B4GALT1-CDG Síndrome das CDG tipo IId hrdo:pat_id_11359 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 608779 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Congenital+AND+glycosylation+AND+IIe%5Bti%5D%29+OR+%28CDG+AND+IIe%29+OR+%28Congenital+AND+glycosylation+AND+COG-7%29 E77.8 79333 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anomalie congénitale de la glycosylation type 2e Anomalie congénitale de la glycosylation type IIe CDG syndrome type IIe CDG-IIe CDG-IIe CDG-IIe CDG-IIe CDG2E CDG2E CDG2E CDG2E CDG2E Carbohydrate deficient glycoprotein syndrome type IIe Congenital disorder of glycosylation type 2e Congenital disorder of glycosylation type IIe Disturbo congenito della glicosilazione, tipo 2e Disturbo congenito della glicosilazione, tipo IIe Kohlenhydrat-defizientes Glykoprotein-Syndrom IIe Kongenitaler Defekt der Glycoproteinbiosynthese Typ IIe Sindrome CDG, tipo IIe Sindrome delle glicoproteine carenti in carboidrati, tipo IIe Syndrome CDG type IIe Syndrome des glycoprotéines déficientes en hydrates de carbone type IIe Síndrome CDG tipo IIe Síndrome de glicoproteínas deficientes en carbohidratos tipo IIe Trastorno congénito de la glicosilación tipo 2e Trastorno congénito de la glicosilación tipo IIe CDG-Syndrom Typ IIe COG7-CDG syndrome Sindrome COG7-CDG Syndrome COG7-CDG Síndrome COG7-CDG Síndrome das CDG tipo IIe hrdo:pat_id_11370 118650 neant Q77.3 79344 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Chondrodysplasia punctata Typ Sheffield Chondrodysplasia punctata, Sheffield type Chondrodysplasie ponctuée type Sheffield Condrodisplasia pontuada tipo Sheffield Condrodisplasia punctata, tipo Sheffield Condrodisplasia puntata, tipo Sheffield hrdo:pat_id_11371 302950 602497 C535941 neant Q77.3 79345 C1844853 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome Brachytelephalangic chondrodysplasia punctata Chondrodysplasia punctata, brachytelephalangealer Typ Chondrodysplasie ponctuée brachytéléphalangique Condrodisplasia pontuada braquitelefalângica Condrodisplasia punctata braquitelefalángica Condrodisplasia puntata brachitelefalangica hrdo:pat_id_11372 118651 neant Q77.3 79346 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Chondrodysplasia punctata, tibial-metacarpal type Chondrodysplasia punctata, tibial-metakarpaler Typ Chondrodysplasie ponctuée tibio-métacarpienne Condrodisplasia pontuada tipo umero-metacárpica Condrodisplasia punctata, tipo húmero-metacarpiano Condrodisplasia puntata, tipo tibiale-metacarpale hrdo:pat_id_11373 215105 neant Q77.3 79347 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Sindrome di Toriello-Higgins-Miller Syndrome de Toriello-Higgins-Miller Toriello-Higgins-Miller syndrome Toriello-Higgins-Miller-Syndrom Chondrodysplasia punctata Typ Toriello Chondrodysplasia punctata, Toriello type Chondrodysplasie ponctuée type Toriello Condrodisplasia punctata, tipo Toriello Condrodisplasia puntata, tipo Toriello Síndrome de Toriello-Higgins-Miller hrdo:pat_id_11376 614023 neant E72.8 79350 disease 3-Phosphoserine phosphatase deficiency Deficiencia de 3-fosfoserina fosfatasa Deficit di 3-fosfoserina-fosfotasi Deficiência de 3-fosfoserina fosfatase Déficit en 3-phosphosérine phosphatase Phosphoserinphosphatase-Mangel hrdo:pat_id_11377 601815 neant E72.8 79351 303098002 C0580190 disease 3-Phosphoglycerat-Dehydrogenase-Mangel 3-Phosphoglycerate dehydrogenase deficiency Deficit di 3-fosfoglicerato deidrogenasi Deficiência de 3-fosfoglicerato desidrogenase Déficit de 3-fosfoglicerato deshidrogenasa Déficit en 3-Phosphoglycerate déshydrogénase hrdo:pat_id_11379 79353 group of phenomes Doença epidérmica Epidermal disease Epidermale Krankheit Epidérmica, enfermedad Maladie de l'épiderme Malattia epidermica hrdo:pat_id_11380 D007057 10021198 79354 13059002 C0020757 C0020758 group of phenomes Ichthyose Ichthyosis Ichtyose Ictiose Ictiosis Ittiosi hrdo:pat_id_11381 10015280 79355 254215005 C0432330 group of phenomes Eritrocheratodermia Eritroqueratoderma Eritroqueratodermia Erythrokeratoderma Erythrokeratodermie Erythrokératodermie hrdo:pat_id_11382 neant Q82.8 79356 group of phenomes Acrocheratodermia Acrokeratoderma Acrokératodermie Acroqueratoderma Acroqueratodermia Akrokeratodermie hrdo:pat_id_11383 neant Q82.8 79357 group of phenomes Cheratosi palmoplantare ereditaria Hereditary PPK Hereditary keratosis palmoplantaris Hereditary palmoplantar hyperkeratosis Hiperqueratosis palmoplantar hereditaria Hypekératose palmoplantaire héréditaire Ipercheratosi palmoplantare ereditaria KPP héréditaire PPK ereditario PPK hereditaria PPK héréditaire Queratosis palmoplantar hereditaria Cheratoderma palmoplantare ereditario Hereditary palmoplantar keratoderma Kératodermie palmoplantaire héréditaire Palmoplantarkeratose, hereditäre Queratodermia palmo-plantar hereditária Queratodermia palmoplantar hereditaria hrdo:pat_id_11384 D017499 10036175 neant Q82.8 79358 400080004 C0162839 group of phenomes Porocheratosi Porokeratose Porokeratosis Porokératose Poroqueratose Poroqueratosis hrdo:pat_id_11385 79359 group of phenomes Doença epidérmica, outra Hautkrankheiten, sonstige Maladie non classifiée de l'épiderme Malattia dell'epidermide non classificata Otro trastorno de la epidermis Unclassifed epidermis disorder hrdo:pat_id_11386 79360 group of phenomes Doença epidérmica, sindrómica Enfermedad epidérmica génetica sin clasificar Genetic unclassified epidermal disease Hautkrankheit, genetische, unklassifizierte Maladie génétique non classifiée de l'épiderme Malattie genetice dell'epidermide non classificate hrdo:pat_id_11387 Variabel Variabile Variable Variable Variable Variable Variável neant Q81 79361 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Epidermolysis bullosa hereditaria Epidermólisis bullosa hereditaria Hereditary epidermolysis bullosa Epidermolisi bollosa ereditaria Epidermolyse bulleuse héréditaire Epidermolysis bullosa, hereditäre Epidermólise bolhosa Epidermólisis ampollosa hereditaria Inherited epidermolysis bullosa hrdo:pat_id_11388 79362 group of phenomes Anomalia dos apêndices epidérmicos Anomalie degli annessi dell'epidermide Anomalien der Hautanhangsgebilde Apéndice epidérmico, anomalía del Epidermal appendage anomaly Maladie des phanères hrdo:pat_id_11389 79363 group of phenomes Anomalia do cabelo Anomalie dei capelli Anomalie des cheveux Anomalía del cabello Haaranomalie Hair anomaly hrdo:pat_id_11390 79364 group of phenomes Alopecia Alopecia Alopecia Alopecia Alopezie Alopécie hrdo:pat_id_11391 D006983 10020864 79365 29966009 C0020555 group of phenomes Hipertricose Hipertricosis Hypertrichose Hypertrichose Hypertrichosis Ipertricosi hrdo:pat_id_11392 79366 group of phenomes Anomalias isoladas da haste capilar Anomalie isolate dello stelo del capello Anomalie isolée de la gaine des cheveux Anomalías del tallo del pelo, aisladas Haarschaftanomalie, isolierte Isolated hair shaft abnormality hrdo:pat_id_11393 79367 group of phenomes Anomalias sindrómicas da haste capilar Anomalie sindromiche dello stelo del capello Anomalías del tallo del pelo, sindrómico Haarschaftanomalie, syndromale Syndrome avec anomalie de la gaine des cheveux Syndromic hair shaft abnormality hrdo:pat_id_11394 79368 group of phenomes Anomalias das unhas Anomalie delle unghie Anomalie des ongles Anomalía de las uñas Nagel-Anomalie Nail anomaly hrdo:pat_id_11395 79369 group of phenomes Anomalia isolada das unhas Anomalie isolate delle unghie Anomalie isolée des ongles Isolated nail anomaly Nagelkrankheit, isolierte Trastorno de las uñas, aislado hrdo:pat_id_11396 79370 group of phenomes Anomalia sindrómica das unhas Anomalie sindromiche delle unghie Anomalie syndromique des ongles Nagelkrankheit, syndromale Syndromic nail anomaly Trastorno de las uñas, sindrómico hrdo:pat_id_11398 79372 group of phenomes Anomalia das glândulas sebáceas Anomalia delle ghiandole sebacee Anomalie des glandes sébacées Glándulas sebáceas, anomalía de las Sebaceous gland anomaly Talgdrüsenanomalie hrdo:pat_id_11399 D004476 10010452 79373 254154003 8654005 C0013575 group of phenomes Syndrome d'ectodermie dysplasique Displasia ectodérmica sindrómica Displasia ectodérmica, síndrome de Dysplasie ectodermique Ectodermal dysplasia syndrome Ektodermales Dysplasie-Syndrom Sindrome da displasia ectodermica hrdo:pat_id_11400 79374 group of phenomes Anomalia da pigmentação cutânea Anomalie de la pigmentation cutanée Anomalie della pigmentazione Pigmentación, anomalía de la Pigmentation anomaly of the skin Pigmentierungsanomalien hrdo:pat_id_11401 79375 group of phenomes Hiperpigmentación Hiperpigmentação cutânea Hyperpigmentation cutanée Hyperpigmentation of the skin Hyperpigmentierung der Haut Iperpigmentazione hrdo:pat_id_11402 10040868 79376 group of phenomes Hipopigmentación Hipopigmentação cutânea Hypopigmentation cutanée Hypopigmentation of the skin Hypopigmentierung Ipopigmentazione hrdo:pat_id_11403 79377 group of phenomes Anomalie du derme Dermale Krankheit Dermis disorder Doença da derme Dérmica, enfermedad Malattie del derma hrdo:pat_id_11404 79378 group of phenomes Anomalie de l'élasticité du derme Anomalía de la elasticidad de la dermis Dermis elastic tissue disorder Doença cutânea do colagéneo Malattia del tessuto elastico del derma Veränderungen des elastischen Gewebes der Haut hrdo:pat_id_11405 D017445 10062171 79379 11263005 C0162819 group of phenomes Doença vascular cutânea Hautkrankheit, vaskuläre Maladie vasculaire du derme Malattia cutanea vascolare Skin vascular disease Vascular de la piel, enfermedad hrdo:pat_id_11406 79380 group of phenomes Anomalie mixte du derme Doença dérmica, mista Dérmica, mixta, enfermedad Hautkrankheit, gemischte Form Malattia cutanea mista Mixed dermis disorder hrdo:pat_id_11407 79381 group of phenomes Altre malattie cutanee Anomalie du derme non classifiée Doença dérmica, outra Dérmica, enfermedad, otra Hautkrankheit, andere Unclassified dermis disorder hrdo:pat_id_11408 79382 128041002 C1290008 group of phenomes Doença do tecido subcutâneo Gewebekrankheit, subkutane Maladie du tissu sous-cutané Malattia del tessuto sottocutaneo Subcutaneous tissue disease Tejido subcutáneo, enfermedad del hrdo:pat_id_11409 D008209 10025282 79383 234097001 30213001 C0024236 group of phenomes Linfedema Linfedema Linfedema Lymphedema Lymphoedème Lymphödem hrdo:pat_id_11410 79384 group of phenomes Orticaria rara Rare urticaria Urticaire rare Urticaria, rara Urticária rara Urtikaria hrdo:pat_id_11411 79385 group of phenomes Doença dermatológica, genética, outra Hautkrankheit, genetisch bedingte, sonstige Maladie génétique non classifiée de la peau Malattia cutanea genetica, altro Otra enfermedad de la piel de orígen genético Unclassified genetic skin disease hrdo:pat_id_11412 79386 group of phenomes Hauttumor Rare skin tumor or hamartoma Tumeur ou hamartome de la peau Tumor cutáneo, rara Tumor de pele, raro Tumore cutaneo raro hrdo:pat_id_11413 79387 group of phenomes Doença dermatológica, metabólica Enfermedad de la piel, metabólica Hautkrankheit, metabolische Maladie métabolique avec atteinte cutanée Malattia cutanea metabolica Metabolic disease with skin involvement hrdo:pat_id_11414 79388 group of phenomes Doença dermatológica associada a mucopolissacaridose Mucopolisacaridosis con afectación cutánea Mucopolisaccaridosi con coinvolgimento cutaneo Mucopolysaccharidose avec atteinte cutanée Mucopolysaccharidosis with skin involvement Mukopolysaccharidose mit Hautbeteiligung hrdo:pat_id_11415 D019588 10063493 79389 399959003 88587007 C0231341 group of phenomes Alterung, vorzeitige Envejecimiento prematuro Envelhecimento prematuro Invecchiamento precoce Premature aging Vieillissement prématuré hrdo:pat_id_11416 79390 group of phenomes Fotosensibilidad cutánea rara Fotosensibilità cutanea rara Photosensitibilité cutanée rare Photosensitivität der Haut Rare skin photosensitivity Fotodermatosi rara Fotodermatosis rara Fotossensibilidade da pele, rara Photodermatose rare Photodermatose, seltene Rare photodermatosis hrdo:pat_id_11417 79391 group of phenomes Doença dermatológica associada a deficiência imune Hautkrankheit mit assoziiertem Immundefekt Immune deficiency with skin involvement Immunodeficienza con coinvolgimento cutaneo Immunodéficience avec atteinte cutanée Inmunodeficiencia con afectación cutánea hrdo:pat_id_11420 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 242100 606545 612281 615022 615023 615024 neant Q80.2 79394 267372009 C0079154 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 CIE CIE CIE EIC Erythrodermic ichthyosis Erythrodermie congénitale ichtyosiforme sèche Ichthyose, erythrodermische Ichtyoses érythrodermiques Ictiosis eritrodérmica Non bullous congenital ichthyosiform erythroderma Congenital nonbullous ichthyosiform erythroderma Eritrodermia ictiosiforme congénita, no bullosa Eritrodermia ictiosiforme congénita, não-bolhosa Eritrodermia ittiosiforme non bollosa congenita Erythrodermie congénitale ichtyosiforme non-bulleuse Erythrodermie, ichthyosiforme kongenitale, nicht-bullöse Form hrdo:pat_id_11421 604117 neant Q82.8 79395 disease Camisa disease Cheratoderma - dermatosi ittiosiforme - aumento di beta-glucuronidasi Cheratoderma - dermatosi ittiosiforme - beta-glucuronidasi elevata Cheratoderma da anomalie della loricrina Enfermedad de Camisa Keratoderma - ichthyosiform dermatosis - elevated beta-glucuronidase Keratoderma hereditarium mutilans mit Ichthyose Keratodermatose - ichthyosiforme Dermatose - erhöhte Beta-Glucuronidase-Aktivität Kératodermie - dermatose ichtyiosiforme - béta-glucuronidase élévée Kératodermie due à des anomalies de la loricrine Loricrin keratoderma Loricrin-Keratoderma Maladie de Camisa Malattia di Camisa Queratodermia - dermatosis ictiosiforme - beta-glucuronidasa elevada Queratodermia loricrina Sindrome di Vohwinkel - ittiosi Syndrome de Vohwinkel - ichtyose Síndrome de Vohwinkel - ictiosis Vohwinkel syndrome - ichthyosis Keratoderma hereditarium mutilans con ittiosi Keratoderma hereditarium mutilans with ichthyosis Kératodermie mutilante avec ichtyose Queratodermia hereditaria mutilante con ictiosis Síndrome de Vohwinkel com ictiose Vohwinkel-Syndrom mit Ichthyose hrdo:pat_id_11422 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 131760 neant Q81.0 79396 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Epidermolisi bollosa semplice erpetiforme Epidermolyse bulleuse simple herpétiforme Epidermolysis bullosa simplex herpetiformis Epidermolysis bullosa simplex, herpetiformis Epidermolisi bollosa semplice, tipo Dowling-Meara Epidermolyse bulleuse simple type Dowling-Meara Epidermolysis bullosa simplex Typ Dowling-Meara Epidermolysis bullosa simplex, Dowling-Meara type Epidermólise bolhosa simples tipo Dowling-Meara Epidermólisis ampollosa simple, tipo Dowling-Meara hrdo:pat_id_11423 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 131960 C535959 neant Q81.0 79397 254180002 C0432316 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown EBS-MP EBS-MP EBS-MP EBS-MP Epidermolisis bullosa simple con pigmentación moteada Epidermolisi bollosa semplice con pigmentazione a chiazze Epidermolisis ampollosa simple con pigmentación moteada Epidermolyse bulleuse simple avec pigmentation mouchetée Epidermolysis bullosa simplex mit fleckiger Hyperpigmentierung Epidermolysis bullosa simplex with mottled pigmentation Epidermólise bolhosa simples com pigmentação mosqueada hrdo:pat_id_11425 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 131900 C535961 neant Q81.0 79399 90496008 C0079299 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown EBS generalizada no Dowling-Meara EBS generalizzata non-Dowling-Meara EBS généralisée non-Dowling-Meara Epidermolisi bollosa semplice, tipo Koebner Epidermolisi bollosa semplice, tipo Köbner Epidermolisis ampollosa simple, tipo Koebner Epidermolisis ampollosa simple, tipo Köbner Epidermolisis bullosa simple, tipo Koebner Epidermolisis bullosa simple, tipo Köbner Epidermolyse bulleuse simple type Koebner Epidermolysis bullosa simplex, Koebner type Epidermolysis bullosa simplex, Köbner type Epidermolysis bullosa simplex, generalisierte, nicht Dowling-Meara Non-Dowling-Meara generalized EBS Epidermolisi bollosa semplice generalizzata non-Dowling-Meara Epidermolisis ampollosa simple generalizada no Dowling-Meara Epidermolyse bulleuse simple généralisée non-Dowling-Meara Epidermolysis bullosa simplex Typ Köbner Epidermólise bolhosa simples, tipo Kbner Non-Dowling-Meara generalized epidermolysis bullosa simplex hrdo:pat_id_11426 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 131800 neant Q81.0 79400 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 EBS-loc EBS-loc EBS-loc EBS-loc Epidermolisi bollosa semplice dei palmi e delle piante Epidermolisi bollosa semplice, tipo Weber-Cockayne Epidermolisis ampollosa simple de palmas y plantas Epidermolisis ampollosa simple, tipo Weber-Cockayne Epidermolisis bullosa simple, tipo Weber-Cockayne Epidermolyse bulleuse simple des mains et des pieds Epidermolysis bullosa simplex der Handflächen und Fußsohlen Epidermolysis bullosa simplex of palms and soles Epidermolysis bullosa simplex, Weber-Cockayne type Epidermolysis bullosa simplex, lokalisierte Epidermolisi bollosa semplice localizzata Epidermolisis ampollosa simple localizada Epidermolyse bulleuse simple localisée Epidermolysis bullosa simplex Typ Weber-Cockayne Epidermólise bolhosa simples tipo Weber-Cockayne Localized epidermolysis bullosa simplex hrdo:pat_id_11427 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 131950 C535962 neant Q81.0 79401 398071000 C0432317 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown EBS-O EBS-O EBS-O EBS-O Epidermólisis bullosa simple, tipo Ogna Epidermolisi bollosa semplice, tipo Ogna Epidermolyse bulleuse simple type Ogna Epidermolysis bullosa simplex Typ Ogna Epidermolysis bullosa simplex, Ogna type Epidermólise bolhosa simples tipo Ogna Epidermólisis ampollosa simple, tipo Ogna hrdo:pat_id_11428 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 226650 neant Q81.8 79402 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown EBJ-nH gen Epidermolisi bollosa benigna atrofica generalizzata Epidermolisis ampollosa juntural mitis generalizada Epidermolisis ampollosa juntural, tipo Disentis Epidermolisis bullosa juntural mitis generalizada Epidermolisis bullosa juntural, tipo Disentis Epidermolyse bulleuse jonctionnelle généralisée atrophique Epidermolyse bulleuse jonctionnelle type Disentis Epidermólisis ampollosa generalizada atrófica benigna Epidermólisis bullosa generalizada atrófica benigna Epidermólisis bullosa juntural generalizada, de tipo no Herlitz GABEB GABEB GABEB GABEB Generalized atrophic benign epidermolysis bullosa JEB-nH gen JEB-nH gen Junctional epidermolysis bullosa generalisata mitis Junctional epidermolysis bullosa, Disentis type Epidermolisi bollosa giunzionale generalizzata, tipo non Herlitz Epidermolyse bulleuse jonctionnelle généralisée type non-Herlitz Epidermolysis bullosa, atrophische benigne generalisierte Epidermólise bolhosa benigna com atrofia generalizada Epidermólisis ampollosa juntural generalizada, de tipo no Herlitz Generalized junctional epidermolysis bullosa, non-Herlitz type hrdo:pat_id_11429 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 226730 neant Q81.8 79403 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Carmi syndrome EBJ-AP Epidermólisis bullosa juntural - atresia pilórica JEB-PA Syndrome de Carmi Epidermolisi bollosa giunzionale - atresia pilorica Epidermolyse bulleuse jonctionnelle - atrésie du pylore Epidermolysis bullosa, junktionale - Pylorusatresie Epidermólise bolhosa juncional - atresia do piloro Epidermólisis ampollosa juntural - atresia pilórica Junctional epidermolysis bullosa - pyloric atresia hrdo:pat_id_11430 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 226700 neant Q81.1 79404 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 EBJ-H Epidermolyse bulleuse jonctionnelle létale Epidermolyse bulleuse jonctionnelle type Herlitz-Pearson Epidermolysis bullosa letalis Epidermólisis ampollosa juntural generalizada grave Epidermólisis ampollosa juntural, tipo Herlitz-Pearson Epidermólisis ampollosa letal Epidermólisis bullosa juntural generalizada grave Epidermólisis bullosa juntural, tipo Herlitz Epidermólisis bullosa juntural, tipo Herlitz-Pearson Epidermólisis bullosa letal JEB-H Junctional epidermolysis bullosa generalisata gravis Junctional epidermolysis bullosa, Herlitz-Pearson type Epidermolisi bollosa giunzionale, tipo Herlitz Epidermolyse bulleuse jonctionnelle type Herlitz Epidermolysis bullosa, junktionale, Typ Herlitz Epidermólise bolhosa juncional tipo Herlitz Epidermólisis ampollosa juntural, tipo Herlitz Junctional epidermolysis bullosa, Herlitz type hrdo:pat_id_11431 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 226650 neant Q81.8 79405 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 EBJ inversée EBJ-I Epidermólisis bullosa juntural inversa Inverse JEB JEB-I Epidermolisi bollosa giunzionale inversa Epidermolyse bulleuse jonctionnelle inversée Epidermolysis bullosa, junktionale, inverse Variante Epidermólise bolhosa juncional inversa Epidermólisis ampollosa juntural inversa Junctional epidermolysis bullosa inversa hrdo:pat_id_11432 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter neant Q81.8 79406 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 EB progressive Epidermólisis bullosa juntural de aparición tardía JEB-lo Epidermolisi bollosa giunzionale, esordio tardivo Epidermolyse bulleuse jonctionnelle tardive Epidermolysis bullosa, junktionale, spät beginnende Epidermólise bolhosa juncional de início tardio Epidermólisis ampollosa juntural de aparición tardía Late-onset junctional epidermolysis bullosa hrdo:pat_id_11433 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q81.2 79407 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype DDEB, Cockayne-Touraine type DDEB, tipo Cockayne-Touraine Epidermólisis bullosa distrófica autosómica dominante, tipo Cockayne-Touraine Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type Epidermolisi bollosa distrofica, autosomica dominante, tipo Cockayne-Touraine Epidermolyse bulleuse dystrophique autosomique dominante type Cockayne-Touraine Epidermolysis bullosa, dystrophe, autosomal-dominante, Typ Cockayne-Touraine Epidermólise bolhosa distrófica, autossómica dominante Epidermólisis ampollosa distrófica autosómica dominante, tipo Cockayne-Touraine hrdo:pat_id_11434 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 226600 neant Q81.2 79408 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type EBDR sévère généralisée EBDR type Hallopeau-Siemens Epidermolyse bulleuse dystrophique autosomique récessive type Hallopeau-Siemens Epidermólisis bullosa distrófica, autosómica recesiva, tipo Hallopeau-Siemens RDEB generalisata gravis RDEB, Hallopeau-Siemens type RDEB-sev gen Severe generalized RDEB Epidermolisi bollosa distrofica, autosomica recessiva, tipo Hallopeau-Siemens Epidermolyse bulleuse dystrophique récessive sévère généralisée Epidermolysis bullosa, dystrophe, autosomal-rezessive, Typ Hallopeau-Siemens Epidermólise bolhosa distrófica, autossómica recessiva, tipo Hallopeau-Siemens Epidermólisis ampollosa distrófica, autosómica recesiva, tipo Hallopeau-Siemens Severe generalized recessive dystrophic epidermolysis bullosa hrdo:pat_id_11435 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 226600 neant Q81.2 79409 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dystrophic epidermolysis bullosa inversa EBDR inversée Epidermólisis bullosa distrófica invertida Inverse RDEB Inverse recessive dystrophic epidermolysis bullosa RDEB-I Epidermolisi bollosa distrofica inversa Epidermolyse bulleuse dystrophique récessive inversée Epidermolysis bullosa, dystrophe, inverse Variante Epidermólise bolhosa distrófica inversa Epidermólisis ampollosa distrófica invertida Recessive dystrophic epidermolysis bullosa inversa hrdo:pat_id_11436 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 131850 neant Q81.2 79410 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 DEB, pretibial DEB-Pt EBD pré-tibiale Epidermólisis bullosa distrófica pretibial Epidermolisi bollosa distrofica pretibiale Epidermolyse bulleuse dystrophique pré-tibiale Epidermolysis bullosa, dystrophe prätibiale Epidermólise bolhosa distrófica pré-tibial Epidermólisis ampollosa distrófica pretibial Pretibial dystrophic epidermolysis bullosa hrdo:pat_id_11437 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 131705 C536979 neant Q81.2 79411 C1851573 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 DEB, bullous dermolysis of the newborn DEB-BDN Dermólisis bullosa transitoria del recién nacido Dermolisi bollosa transitoria del neonato Dermolyse bulleuse transitoire du nouveau-né Dermolyse, bullöse transiente, des Neugeborenen Dermólise bolhosa transitória do recém-nascido Dermólisis ampollosa transitoria del recién nacido Transient bullous dermolysis of the newborn hrdo:pat_id_11440 neant D23.4 79414 239124001 C0343114 clinical subtype Wooly hair nevus Cheveux laineux sur nevus Nevo a capelli lanosi Nevo piloso lanoso Nevus de pelo lanoso Wollhaarnaevus Woolly hair nevus hrdo:pat_id_11454 neant Q85.0 79428 clinical subtype Familial segmental neurofibromatosis Neurofibromatose segmentaire Neurofibromatose segmentar familiar Neurofibromatose, familiäre segmentale Neurofibromatosi familiare segmentale Neurofibromatosis segmentaria familiar hrdo:pat_id_11455 162210 neant Q85.0 79429 clinical subtype Familial spinal neurofibromatosis Neurofibromatose espinhal familiar Neurofibromatose spinale Neurofibromatose, familiäre spinale Neurofibromatosi familiare spinale Neurofibromatosis, espinal familiar hrdo:pat_id_11456 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 203300 608233 614072 614073 614074 614075 614076 614077 614171 neant E70.3 79430 9311003 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 HPS HPS HPS HPS SHP Hermansky-Pudlak syndrome Hermansky-Pudlak-Syndrom Sindrome di Hermansky-Pudlak Syndrome d'Hermansky-Pudlak Síndrome de Hermansky-Pudlak Síndrome de Hermansky-Pudlak hrdo:pat_id_11457 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 203100 neant E70.3 79431 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 AOC1A Albinisme oculo-cutané tyrosinase-négatif Albinismo oculocutaneo tirosinasi-negativo Albinismo oculocutáneo tirosina-negativo Albinismus, okulokutaner, Tyrosinase-negativ OCA-1A OCA-1A OCA1A OCA1A OCA1A Tyrosinase-negative oculocutaneous albinism Albinisme oculo-cutané type 1A Albinismo oculocutaneo, tipo 1A Albinismo oculocutáneo tipo 1A Albinismo oculocutâneo tipo 1A, OCA-1A Albinismus, okulokutaner, Typ 1A Oculocutaneous albinism type 1A hrdo:pat_id_11458 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 203200 C537730 neant E70.3 79432 26336006 C0268495 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 AOC2 Albinismo oculocutaneo tirosinasi-positivo Albinismo oculocutáneo tirosina-positivo Albinismus, okulokutaner, Tyrosinase-positiv OCA-2 OCA-2 OCA2 OCA2 Albinisme oculo-cutané type 2 Albinismo oculocutaneo, tipo 2 Albinismo oculocutáneo tipo 2 Albinismo oculocutâneo tipo 2, OCA-2 (Albinismo oculocutâneo, tirosinase positivo) Albinismus, okulokutaner, Typ 2 Oculocutaneous albinism type 2 hrdo:pat_id_11459 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 203290 C537189 C537731 neant E70.3 79433 63450009 C0342683 C2931599 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 AOC3 Albinisme oculo-cutané rouge Albinisme oculo-cutané roux Albinisme oculo-cutané rufous Albinisme oculo-cutané xanthous Albinismo oculocutaneo di Rufous Albinismo oculocutaneo di Xanthous Albinismo oculocutaneo rosso Albinismo oculocutáneo Rufous Albinismo oculocutáneo Xanthous Albinismo oculocutáneo rojo OCA-3 OCA-3 OCA3 OCA3 Okulokutaner Albinismus, roter Okulokutaner Albinismus, xanthöser ROCA (Rufous Okulokutaner Albinismus) Red oculocutaneous albinism Rufous oculocutaneous albinism Xanthous oculocutaneous albinism Albinisme oculo-cutané type 3 Albinismo oculocutaneo, tipo 3 Albinismo oculocutáneo tipo 3 Albinismo oculocutâneo tipo 3, OCA-3 (Albinismo oculocutâneo alaranjado/vermelho/amarelado) Albinismus, okulokutaner, Typ 3 Oculocutaneous albinism type 3 hrdo:pat_id_11460 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 606952 C537729 neant E70.3 79434 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 AOC1B Albinisme oculo-cutané jaune Albinisme oculo-cutané type Amish Albinismo oculocutaneo giallo Albinismo oculocutaneo platino Albinismo oculocutaneo sensibile alla temperatura Albinismo oculocutaneo, tipo Amish Albinismo oculocutáneo Platinum Albinismo oculocutáneo Yellow Albinismo oculocutáneo sensible a la temperatura Albinismo oculocutáneo tipo Amisch OCA-1B OCA-1B OCA1B OCA1B OCA1B Oculocutaneous albinism type Amish Okulokutaner Albinismus vom Amisch Typ Okulokutaner Albinismus, Temperatur-sensitiver Okulokutaner Albinismus, gelber Platinum oculocutaneous albinism Yellow oculocutaneous albinism Albinisme oculo-cutané type 1B Albinismo oculocutaneo, tipo 1B Albinismo oculocutáneo tipo 1B Albinismo oculocutâneo tipo 1B, OCA-1B Albinismus, okulokutaner, Typ 1B Oculocutaneous albinism type 1B hrdo:pat_id_11461 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 606574 neant E70.3 79435 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 AOC4 OCA-4 OCA-4 OCA4 OCA4 Albinisme oculo-cutané type 4 Albinismo oculocutaneo, tipo 4 Albinismo oculocutáneo tipo 4 Albinismo oculocutâneo tipo 4, OCA-4 Albinismus, okulokutaner, Typ 4 Oculocutaneous albinism type 4 hrdo:pat_id_11469 103580 neant E20.1 79443 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype AHO - PHP Ia Albright hereditary osteodystrophy - PHP Ia Albright'sche hereditäre Osteodystrophie (AHO) - PHP Ia OHA associée à PHP Ia Osteodistrofia ereditaria di Albright - PHP 1A Osteodistrofia hereditaria de Albright (AHO) - PHP Ia Ostéodystrophie héréditaire d'Albright associée à PHP Ia Pseudo-hipoparatiroidismo tipo 1A Pseudo-hipoparatiroidismo tipo 1A Pseudohypoparathyreoidismus Typ 1A Pseudohypoparathyroidism type 1A Pseudohypoparathyroïdie type 1A Pseudoipoparatiroidismo, tipo 1A hrdo:pat_id_11470 612462 C548076 neant E20.1 79444 C2932716 clinical subtype Pseudo-hipoparatiroidismo tipo 1C Pseudo-hipoparatiroidismo tipo 1C Pseudohypoparathyreoidismus Typ 1C Pseudohypoparathyroidism type 1C Pseudohypoparathyroïdie type 1C Pseudoipoparatiroidismo, tipo 1C hrdo:pat_id_11471 612463 D011556 neant E20.1 79445 237659007 C0033835 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype AHO - PPHP Albright hereditary osteodystrophy - PPHP Albright'sche hereditäre Osteodystrophie (AHO) - PPHP OHA associée à PPHP Osteodistrofia ereditaria di Albright - PPHP 1A Osteodistrofia hereditaria de Albright (AHO) - PPHP Ostéodystrophie héréditaire d'Albright associée à PPHP Pseudopseudo-hipoparatiroidismo Pseudopseudohipoparatiroidismo Pseudopseudohypoparathyreoidismus Pseudopseudohypoparathyroidism Pseudopseudohypoparathyroïdie Pseudopseudoipoparatiroidismo hrdo:pat_id_11472 neant Q79.8 79446 etiological subtype Multiple pterygium syndrome, Aslan type Multiples Pterygium-Syndrom Typ Aslan Sindrome dei pterigi multipli, tipo Aslan Syndrome des ptérygium multiples type Aslan Síndrome de pterigium múltiple, tipo Aslan Síndrome de pterígio múltiplo tipo Aslan hrdo:pat_id_11473 312150 neant Q79.8 79447 etiological subtype Forme létale liée à l'X du syndrome des ptérygium multiples Multiples Pterygium-Syndrom, X-chromosomales Sindrome dei pterigi multipli legata all'X Síndrome de pterigium múltiple letal ligado al X Síndrome de pterígio múltiplo ligado ao cromossoma X X-linked lethal multiple pterygium syndrome hrdo:pat_id_11476 neant Q82.0 79450 disease Enfermedad tipo Milroy Maladie de Milroy-like Malattia Milroy-simile Milroy-like disease Milroy-ähnliche Krankheit Linfedema congénito primario no hereditario Linfedema esporádico congénito Linfedema primitivo congenito non ereditario Lymphoedème congénital primaire non héréditaire Lymphödem, kongenitales primäres, nicht-hereditär Non hereditary congenital primary lymphedema hrdo:pat_id_11478 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 153100 247440 611944 613480 neant Q82.0 79452 C1704423 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hereditary lymphedema type I Linfedema de Nonne-Milroy Linfedema ereditario, tipo I Linfedema hereditario tipo I Lymphoedème de Nonne-Milroy Lymphoedème héréditaire type I Lymphödem, hereditäres, Typ I Nonne-Milroy lymphedema Doença de Milroy Enfermedad de Milroy Maladie de Milroy Malattia di Milroy Milroy disease Milroy-Krankheit hrdo:pat_id_11481 D054705 neant Q82.2 79455 C0343115 disease Mastocytome solitaire Solitary mastocytoma Cutaneous mastocytoma Mastocitoma cutaneo Mastocitoma cutáneo Mastocitoma cutâneo Mastocytome cutané Mastozytom, kutanes hrdo:pat_id_11482 10012812 neant Q82.2 79456 C0024901 disease DCM DCM Diffuse kutane Mastozytose (DCM) Diffuse cutaneous mastocytosis Mastocitose cutânea difusa Mastocitosi cutanea diffusa Mastocitosis cutánea difusa Mastocytose cutanée diffuse Mastozytose, kutane, diffuse Form hrdo:pat_id_11483 154800 D014582 10046752 neant Q82.2 79457 78745000 C0042111 disease Urticaire pigmentaire Orticaria pigmentosa Urticaria pigmentosa Urticaria pigmentosa Urticaria pigmentosa Urticaria pigmentosa Urticária pigmentar hrdo:pat_id_11484 neant L98.8 79458 clinical subtype Akrokeratose, paraneoplastische, Typ Bazex Congenital hypotrichosis - milia Hipotricose miliar, congénita Hipotricosis milia congénita Hypotrichose congénitale - milia Ipotricosi congenita - milia hrdo:pat_id_11485 neant L98.8 79459 clinical subtype Atrofoderma folicular - carcinoma de células basales Atrofodermia folicular - carcinoma de células basais Atrofodermia follicolare - carcinoma basocellulare Atrophodermie folliculaire - carcinome basocellulaire Atrophodermie, follikuläre - Basalzellkarzinom Follicular atrophoderma-basal cell carcinoma hrdo:pat_id_1149 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Trisomy+10q%5Bti%5D+OR+duplication+10q*%5Bti%5D+OR+((%22chromosome+10%22+OR+Pair+10%5Btw%5D)+7q*%5Btw%5D+trisomy) Q92.3 1695 C2936831 malformation syndrome Duplication non distale 10q Duplicazione 10q non distale Non-distal duplication 10q Non-telomeric trisomy 10q Trisomia 10q non telomerica Trisomie 10q, partielle Trisomie non télomérique 10q Trisomía 10q parcial Trissomia parcial 10q Duplicación 10q parcial Duplicação parcial 10q Duplikation 10q, partielle Non-distal trisomy 10q Trisomia 10q non distale Trisomie non distale 10q hrdo:pat_id_11492 neant Q82.5 79466 399995006 C0473574 clinical subtype NEVIL Epidermalnaevus, inflammatorischer lineärer verruköser Linear inflammatory verrucous epidermal nevus Nevo epidermico verrucoso infiammatorio lineare Nevo verrugoso epidérmico linear inflamatório Nevus epidérmico verrucoso inflamatorio linear Nevus épidermique verruqueux inflammatoire linéaire hrdo:pat_id_11493 neant Q82.5 79467 clinical subtype Naevus verrucosus Nevo verrucoso Nevo verrugoso Nevus verrucoso Nevus verruqueux Verrucous nevus hrdo:pat_id_11494 neant Q82.5 79468 clinical subtype Acanthokeratolytic verrucous nevus Naevus, akanthokeratolytischer verruköser Nevo verrucoso acanto-cheratolitico Nevo verrugoso acantoqueratolítico Nevus verrucoso acantoqueratolítico Nevus verruqueux acantho-kératolytique hrdo:pat_id_11499 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 176200 neant E80.2 79473 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Deficit di protoporfirinogeno ossidasi Déficit de protoporfirinógeno oxidasa Déficit en protoporphyrinogène-oxydase Protoporphyrinogen oxidase deficiency Protoporphyrinogen-Oxidase-Mangel Variegate porphyria Porfiria variegada Porfiria variegata Porfiria variegata Porphyria variegata Porphyria variegata Porphyrie variegata hrdo:pat_id_1150 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(12p*%5Bti%5D+(duplication%5Bti%5D+OR+trisomy%5Bti%5D))+NOT+(mosaic*+OR+monosomy+12p*%5Bti%5D) Q92.3 1699 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Duplication 12p Duplication 12p Duplicazione 12p non distale Trisomia 12p non telomerica Trisomie 12p Trisomía 12p Trissomia 12p Duplicación 12p Duplicação 12p Duplikation 12p Trisomia 12p non distale Trisomie 12p Trisomy 12p hrdo:pat_id_11500 neant E34.8 79474 clinical subtype Atypical progeroid syndrome Progeria atypique Progeroid-Syndrom, atypisches Sindrome progeroide atipica Syndrome progéroïde atypique Síndrome progeroide atípico Atypical Werner syndrome Sindrome di Werner atipica Syndrome de Werner atypique Síndrome de Werner atípico Síndrome de Werner atípico Werner-Syndrom, atypisches hrdo:pat_id_11502 214450 C537301 neant E70.3 79476 C1859194 clinical subtype Hipopigmentación - deterioro neurológico Hypopigmentation - Neurologische Schädigung Ipopigmentazione - danno neurologico hypopigmentation - neurologic impairment hypopigmentation - troubles neurologiques Enfermedad de Griscelli tipo 1 Griscelli disease type 1 Griscelli-Syndrom Typ 1 Maladie de Griscelli type 1 Sindrome di Griscelli, tipo 1 Síndrome de Griscelli tipo 1 (hipopigmentação - défice neurológico) hrdo:pat_id_11503 607624 C537302 neant E70.3 79477 C1868679 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Hipopigmentación - inmunodeficiencia con o sin deterioro neurológico Hypopigmentation - Immundefekt mit oder ohne Neurologische Schädigung Hypopigmentation - immunodeficiency with or without neurologic impairment Hypopigmentation - troubles immunologiques, avec ou sans troubles neurologiques Ipopgmentazione - immunodeficienza con o senza danno neurologico Enfermedad de Griscelli tipo 2 Griscelli disease type 2 Griscelli-Syndrom Typ 2 Maladie de Griscelli type 2 Sindrome di Griscelli, tipo 2 Síndrome de Griscelli tipo 2 (hipopigmentação - imunodeficiência com ou sem défice neurológico) hrdo:pat_id_11504 609227 C537303 neant E70.3 79478 C1836573 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Enfermedad de Griscelli tipo 3 Griscelli disease type 3 Griscelli-Syndrom Typ 3 Maladie de Griscelli type 3 Sindrome di Griscelli, tipo 3 Síndrome de Griscelli tipo 3 hrdo:pat_id_11505 10057053 neant L10.1 79479 238937005 81285006 C0263316 C0406647 clinical subtype Pemfigo vegetante Pemphigus vegetans Pemphigus vegetans Pemphigus végétant Pénfigo vegetativo Pênfigo vegetante hrdo:pat_id_11506 10058917 neant L10.4 79480 36739006 C0263312 disease Pemfigo seborroico Pemphigus seborrhoicus Pénfigo seborreico Senear-Usher syndrome Senear-Usher-Syndrom Sindrome di Senear-Usher Síndrome de Senear-Usher pemphigus seborrheic pemphigus séborrhéïque syndrome de Senear-Usher Pemfigo eritematoso Pemphigus erythematosus Pemphigus erythematosus Pemphigus érythémateux Pénfigo eritematoso Pênfigo eritematoso (Pênfigo seborréico, síndrome de Senear-Usher) hrdo:pat_id_11507 10057069 neant L10.2 79481 35154004 C0263313 disease Pemfigo fogliaceo Pemphigus foliaceus Pemphigus foliaceus Pemphigus foliacé Pénfigo foliáceo Pênfigo foliáceo hrdo:pat_id_11508 79482 malformation syndrome Akesson syndrome Akesson-Syndrom Sindrome di Akesson Syndrome d'Akesson Cutis verticis girata - aplasia tiroidea - déficit intelectual Cutis verticis gyrata - Schilddrüsenaplasie - geistige Retardierung Cutis verticis gyrata - aplasia da tiroide - atraso mental Cutis verticis gyrata - aplasia della tiroide - ritardo mentale Cutis verticis gyrata - aplasie de la thyroïde - déficit intellectuel Cutis verticis gyrata - thyroid aplasia - intellectual deficit hrdo:pat_id_11509 neant Q85.8 79483 clinical subtype Facomatosi pigmento-vascolare, tipo 2 Facomatosis pigmentovascular tipo II Phacomatose pigmento-vasculaire type II Phakomatosis pigmentovascularis Typ II Phakomatosis pigmentovascularis type 2 Facomatose cesioflammea Facomatosi cesioflammea Facomatosis cesioflammea Phacomatose cesioflammea Phakomatosis cesioflammea Phakomatosis cesioflammea hrdo:pat_id_11510 neant Q85.8 79484 clinical subtype Facomatosi pigmento-vascolare, tipo 5 Facomatosis pigmentovascular tipo V Phacomatose pigmento-vasculaire type V Phakomatosis pigmentovascularis Typ V Phakomatosis pigmentovascularis type 5 Facomatose cesiomarmorata Facomatosi cesiomarmorata Facomatosis cesiomarmorata Phacomatose cesiomarmorata Phakomatosis cesiomarmorata Phakomatosis cesiomarmorata hrdo:pat_id_11511 neant Q85.8 79485 clinical subtype Facomatosi pigmento-vascolare, tipo 3 Facomatosis pigmentovascular tipo III Phacomatose pigmento-vasculaire type III Phakomatosis pigmentovascularis Typ III Phakomatosis pigmentovascularis type 3 Facomatose spilorosea Facomatosi cesioflammea Facomatosis spilorosea Phacomatose spilorosea Phakomatosis spilorosea Phakomatosis spilorosea hrdo:pat_id_11512 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 257350 neant D18.1 79486 399882002 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype Cystic hygroma Hygrome kystique Linfangioma circunscrito Linfangioma cistico Linfangioma quístico Lymphangiom, zystisches hrdo:pat_id_11515 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant D18.1 79489 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Cavernous lymphangioma Cavernous lymphatic malformation Kavernöse lymphatische Fehlbildung Linfangioma cavernoso Linfangioma cavernoso Linfangioma macrocistico Linfangioma macroquístico Lymphangiom, kavernöses Lymphangiom, makrozystisches Lymphangiome caverneux Lymphangiome macrokystique Lymphangiome profond Macrocystic lymphangioma Malformación linfática cavernosa Malformation lymphatique caverneux Malformation lymphatique profonde Malformazione linfatica cavernosa Lymphatische Malformation, makrozystische Macrocystic lymphatic malformation Malformación linfática macroquística Malformation lymphatique macrokystique Malformazione linfatica macrocistica Malformação linfática macroquística hrdo:pat_id_11516 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant D18.1 79490 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Capillary lymphangioma Capillary lymphatic malformation Cutaneous lymphangioma circumscriptum Kapilliäre lymphatische Fehlbildung Linfangioma capilar Linfangioma capillare Linfangioma cutaneo circoscritto Linfangioma cutáneo circunscrito Linfangioma microcistico Linfangioma microquístico Linfangioma superficial Linfangioma superficiale Lymphangiom, kapilliäres Lymphangiom, kutanes zirkumskriptes Lymphangiom, mikrozystisches Lymphangiom, superfizielles Lymphangiome capillaire Lymphangiome microkystique Lymphangiome superficiel Lymphatische Malformation, infiltrierende mikrozystische Malformacion linfática microquística infiltrante Malformación linfática capilar Malformación linfática superficial Malformation lymphatique capillaire Malformation lymphatique microkystique tissulaire inflitrante Malformation lymphatique superficielle Malformazione linfatica capillare Malformazione linfatica microcistica infiltrativa Malformazione linfatica superficiale Microcystic infiltrating lymphatic malformation Microcystic lymphangioma Superficial lymphangioma Superficial lymphatic malformation Lymphatische Malformation, mikrozystische Malformación linfática microquística Malformation lymphatique microkystique Malformazione linfatica microcistica Malformação linfática microquística infiltrativa Microcystic lymphatic malformation hrdo:pat_id_11518 neant L67.8 79492 clinical subtype Pili multigemini Pili multigemini Pili multigemini Pili multigemini Pili multigemini Pili gemini Pili gemini Pili gemini Pili gemini Pili gemini Pili multigemini hrdo:pat_id_11519 132700 601606 605041 neant 79493 C1857941 disease Brooke-Spiegler syndrome Brooke-Spiegler-Syndrom Sindrome di Brooke-Spiegler Syndrome de Brooke-Spiegler Síndrome de Brooke-Spiegler Síndrome de Brooke-Spiegler hrdo:pat_id_11521 307150 neant Q84.2 79495 clinical subtype Congenital generalized hypertrichosis, Macias-Flores type Hipertricosis congénita generalizada tipo Macias-Flores Hypertrichose congénitale généralisée type Macias-Flores Hypertrichose, generalisierte kongenitale, Typ Macias-Flores Ipertricosi generalizzata congenita, tipo Macias-Flores Macias Flores-Garcia Cruz-Rivera syndrome Macias Flores-Garcia Cruz-Rivera-Syndrom Sindrome di Macias Flores-Garcia Cruz-Rivera Síndrome de Macias Flores-Garcia Cruz-Rivera Hipertricosis congénita generalizada ligada al X Hypertrichose congénitale généralisée liée à l'X Hypertrichose, generalisierte kongenitale, X-chromosomale Ipertricosi generalizzata congenita legata all'X Síndrome de Macias Flores-Garcia Cruz-Rivera X-linked congenital generalized hypertrichosis hrdo:pat_id_11525 124480 neant Q87.8 79499 clinical subtype DDOD syndrome DDOD-Syndrom Sindrome DDOD Syndrome DDOD Síndrome DDOD Deafness - onychodystrophy, autosomal dominant Schwerhörigkeit - Onychodystrophie, autosomal-dominante Form Sordera - onicodistrofia, forma dominante Sordità - onicodistrofia, autosomica dominante Surdez - onicodistrofia, forma dominante Surdité - onychodystrophie autosomique dominante hrdo:pat_id_11526 220500 neant Q87.8 79500 clinical subtype DOOR syndrome DOOR-Syndrom Deafness - onycho-osteodystrophy - intellectual deficit Deafness - onychodystrophy - osteodystrophy - intellectual deficit Schwerhörigkeit - Onycho-Osteodystrophie - Intelligenzminderung Schwerhörigkeit - Onychodystrophie - Osteodystrophie - Intelligenzminderung Sindrome DOOR Sordera - onico-osteodistrofia - déficit intelectual Sordera - onicodistrofia - osteodistrofia - déficit intelectual Sordità - onico-osteodistrofia - deficit cognitivo Sordità - onicodistrofia- osteodistrofia - deficit cognitivo Surdité - onycho-ostéodystrophie - déficit intellectuel Surdité - onychodystrophie - ostéodystrophie - déficit intellectuel Syndrome DOOR Síndrome DOOR Autosomal recessive deafness-onychodystrophy syndrome Schwerhörigkeit - Onychodystrophie, autosomal-rezessive Form Sordera - onicodistrofia, forma recesiva Sordità - onicodistrofia, autosomica recessiva Surdez - onicodistrofia, forma recessiva Syndrome de surdité-onychodystrophie autosomique récessif hrdo:pat_id_11527 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 148600 614936 neant Q82.8 79501 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Buschke-Fischer-Brauer syndrome Buschke-Fischer-Brauer-Syndrom Cheratoderma palmoplantare papuloso, tipo Buschke-Fischer-Brauer KPPP1 Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type PPKP1 PPKP1 PPKP1 PPKP1 Queratodermia palmoplantar papulosa, tipo Buschke-Fischer-Brauer Sindrome di Buschke-Fischer-Brauer Syndrome de Buschke-Fischer-Brauer Síndrome de Buschke-Fischer-Brauer Cheratoderma palmoplantare puntato, tipo 1 Kératodermie palmoplantaire ponctuée type 1 Palmoplantarkeratose, punktierte, Typ I Punctate palmoplantar keratoderma type 1 Queratodermia palmoplantar pontuada tipo I Queratodermia palmoplantar punctata tipo 1 hrdo:pat_id_11528 175860 neant Q82.8 79502 C1867982 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Hiperqueratosis palmoplantar punctata tipo 2 Hyperkératose palmoplantaire ponctuée type 2 Ipercheratosi palmoplantare puntata, tipo 2 KPPP2 PPKP2 PPKP2 PPKP2 PPKP2 PPPP PPPP PPPP PPPP Porokeratosis punctata palmaris et plantaris Punctate palmoplantar hyperkeratosis type 2 Cheratoderma palmoplantare puntato, tipo 2 Kératodermie palmoplantaire ponctuée type 2 Palmoplantarkeratose, punktierte, Typ II Punctate palmoplantar keratoderma type 2 Queratodermia palmoplantar pontuada tipo II Queratodermia palmoplantar punctata tipo 2 hrdo:pat_id_11529 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 146590 C536088 neant Q80.8 79503 254170001 C0432307 C1840296 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Ichthyosis hystrix, Curth-Macklin type Ictiosis histrix, tipo Curth-Macklin Ichthyose Curth-Macklin Ichthyose hystrix de Curth-Macklin Ichthyosis hystrix of Curth-Macklin Ictiose hystrix tipo Curth-Macklin Ictiosis histrix de Curth-Macklin Ittiosi a istrice, tipo Curth-Macklin hrdo:pat_id_1153 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(13q*%5Bti%5D+(duplication%5Bti%5D+OR+trisomy%5Bti%5D))+NOT+(distal+OR+terminal+OR+subterminal+OR+pure+OR+qter+OR+13qter) Q92.3 1702 malformation syndrome Duplication non distale 13q Duplicazione 13q non distale Non-distal duplication 13q Non-telomeric trisomy 13q Trisomia 13q non telomerica Trisomie 13q Trisomie non télomérique 13q Trisomía 13q Trissomia 13q Duplicación 13q Duplicação 13q Duplikation 13q Non-distal trisomy 13q Trisomia 13q non distale Trisomie non distale 13q hrdo:pat_id_11530 146600 C536087 neant Q80.0 79504 C0432311 disease Ichthyiosis Typ Lambert Ichthyosis, Lambert type Ichtyose de Lambert Ictiosis, tipo Lambert Ittiosi, tipo Lambert Ichhtyosis hystrix gravior Ichthyosis hystrix gravior Ichtyose hystrix gravior Ictiose hystrix gravior Ictiosis histrix gravior Ittiosi a istrice gravior hrdo:pat_id_11532 143470 614028 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=cholesterol+ester+transfer+proteins%2Fdf E78.4 79506 disease CEPT deficiency CEPT-Mangel Deficiencia de CEPT (siglas en inglés) Deficit di CEPT Deficiência de proteína de transferência de ésteres de colesterol (CEPT) Déficit en CEPT Familial hyperalphalipoproteinemia Hiperalfalipoproteinemia familiar Hyperalphalipoproteinämie, familiäre Hyperalphalipoprotéinémie familiale Iperalfalipoproteinemia familiare Proteína de transferência de ésteres de colesterol (CEPT), deficiência de Cholesterol-ester transfer protein deficiency Cholesteryl-Ester-Transfer-Protein-Mangel Deficit della proteina di trasferimento degli esteri del colesterolo Déficit de proteína colesterol ester transferasa Déficit en protéine de transfert des esters de cholestérol Hiperalfalipoproteinemia familiar hrdo:pat_id_11533 614037 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(%22Leukotriene+C4+synthase%22+OR+Leukotriene+C4%2Fdf)+(hypotonia+OR+Microcephaly) 79507 disease Deficiencia de leucotrieno C4 (LTC4) sintetasa Deficit di leucotriene C4 (LTC4) sintasi Deficiência de leucotrieno C4 (LTC4) sintase Déficit de leucotrieno C4 sintasa (LTC4S) Déficit en leukotriène-C4 synthétase LTC4 synthase deficiency Leucotrieno C4 (LTC4) sintase, deficiência de Leukotrien-C4 (LTC4)-Synthase-Mangel Leukotriene C4 synthase deficiency Hipotonia - má evolução estaturoponderal - microcefalia Hipotonia - retraso en el desarrollo - microcefalia Hypotonia - failure to thrive - microcephaly Hypotonie - Gedeihstörungen - Mikrozephalie Hypotonie - retard staturo-pondéral - microcéphalie Ipotonia - ritardo di crescita - microcefalia hrdo:pat_id_1154 C535489 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(mosaic*%5Bti%5D+(%22Trisomy+14%22+OR+chromosome+14%5Bti%5D))+OR+(Chromosomes,+Human,+Pair+14%5Bmh%5D+trisomy%5Bmh%5D+mosaicism) Q92.1 1703 C2930917 malformation syndrome Mosaic trisomy 14 Mosaik-Trisomie 14 Trisomia 14 in mosaico Trisomie 14 en mosaïque Trisomía 14 en mosaico Trissomia 14 em mosaico hrdo:pat_id_11541 256450 neant E16.1 79643 disease Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency Hipoglucemia hiperinsulinémica autosómica recesiva por déficit de SUR1 Hyperinsulinämische Hypoglykämie durch SUR1-Mangel Hypoglycémie hyperinsulinémique autosomique récessif par déficit en SUR1 Ipoglicemia iperinsulinemica autosomica recessiva da deficit di SUR1 Autosomal recessive hyperinsulinism due to SUR1 deficiency Hiperinsulinismo autosómico recesivo por déficit de SUR1 Hiperinsulinismo grave por mutações no gene SUR1 Hyperinsulinisme autosomique récessif par déficit en SUR1 Hyperinsulinismus durch SUR1-Mangel, autosomal-rezessiver Iperinsulinismo autosomico recessivo da deficit di SUR1 hrdo:pat_id_11542 601820 neant E16.1 79644 disease Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency Hipoglucemia hiperinsulinémica autosómica recesiva por déficit de Kir6.2 Hyperinsulinämische Hypoglykämie durch Kir6.2-Mangel Hypoglycémie hyperinsulinémique autosomique récessif par déficit en Kir6.2 Ipoglicemia iperinsulinemica autosomica recessiva da deficit di Kir6.2 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency Hiperinsulinismo autosómico recesivo por déficit de Kir6.2 Hiperinsulinismo grave por mutações no gene Kir6 Hyperinsulinisme autosomique récessif par déficit en Kir6.2 Hyperinsulinismus durch Kir6.2-Mangel, autosomal-rezessiver Iperinsulinismo autosomico recessivo da deficit di Kir6.2 hrdo:pat_id_11543 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant E70.1 79651 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown HMP HPA leve HPA lieve HPA modérée HPA no PKU HPA non PCU HPA non-PKU Hyperphénylalaninémie modérée permanente Mild HPA Milde HPA Non-PKU HPA Non-PKU HPA Non-PKU HPA mHPA mHPA mHPA mHPA mHPA Hiperfenilalaninemia leve Hiperfenilalaninemia ligeira Hyperphenylalaninämie, milde Hyperphénylalaninémie modérée Iperfenilalaninemia lieve Mild hyperphenylalaninemia hrdo:pat_id_11544 175100 D005736 10017727 neant D12.6 79665 60876000 C0017097 clinical subtype Gardner syndrome Gardner-Syndrom Sindrome di Gardner Syndrome de Gardner Síndrome de Gardner Síndrome de Gardner hrdo:pat_id_11545 79669 group of phenomes Autoimmune bullous skin disease Dermatite bulleuse auto-immune Doença cutânea bolhosa autoimune Hautkrankheit, autoimmune bullöse Malattia autoimmune bollosa cutanea Piel ampollosa autoinmune, enfermedad de la hrdo:pat_id_11546 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 300537 neant Q79.6 82004 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 EDS - hétérotopie nodulaire périventriculaire EDS com heterotopia periventricular EDS con eterotopia periventricolare EDS mit periventrikulärer Heterotopie EDS with periventricular heterotopia SED - hétérotopie nodulaire périventriculaire SED con heterotopia periventricular SED con heterotopía periventricular Ehlers-Danlos syndrome with periventricular heterotopia Ehlers-Danlos-Syndrom - periventrikuläre Heterotopie Sindrome di Ehlers-Danlos con eterotopia periventricolare Syndrome d'Ehlers-Danlos - hétérotopie nodulaire périventriculaire Síndrome de Ehlers-Danlos com heterotopia periventricular Síndrome de Ehlers-Danlos con heterotopia periventricular hrdo:pat_id_11548 83001 group of phenomes Malformation uro-génitale Malformazione del tratto urogenitale Malformação do trato urogenital Tracto urogenital, malformación Urogenital tract malformation Urogenitale Fehlbildungen hrdo:pat_id_11556 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável D012373 10039207 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Rocky+Mountain+spotted+fever%5Bti%5D+OR+Rocky+Mountain+spotted+fever%5Bmajr%5D A77.0 83311 186772009 C0035793 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Febbre pettechiale delle Montagne Rocciose Febre maculosa das Montanhas Rochosas Fiebre maculosa de las Montañas Rocosas Fièvre pourprée des Montagnes Rocheuses Rocky Mountain spotted fever Rocky-Mountain-Fleckfieber hrdo:pat_id_11557 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 10039137 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=rickettsiaceae+infections%5Bti%5D+OR+rickettsiaceae+infections%5Bmajr%5D+OR+Rickettsialpox%5Btw%5D A79.1 83312 75096007 C0035597 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Esantema da rickettsia Fièvre vésiculeuse Rickettsialpox Rickettsienpocken Rickettsiose variceliforme Rickettsiosis exantemática hrdo:pat_id_11558 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável D001907 10006045 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Boutonneuse+fever%5Bti%5D+OR+Boutonneuse+fever%5Bmajr%5D A77.1 83313 186774005 C0006060 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Afrikanisches Zeckenbissfieber Febbre bottonosa mediterranea Febbre di Marsiglia Febbre esantematica mediterranea Febre de Marselha Febre maculosa mediterrânica Febre por mordedura da carraça queniana Fiebre botonosa mediterránea Fiebre maculosa mediterránea Fiebre marsellesa Fièvre boutonneuse méditérranéenne Fièvre de Marseille Marseille-Fieber Marseilles fever Mediterranean boutonneuse fever Mediterranean spotted fever Mittelmeerfleckfieber (MSF) Tifo da carraça africana Tifo da carraça indiana Tifo da carraça queniana Boutonneuse fever Boutonneuse-Fieber Febbre bottonosa Febre de Boutonneuse Fiebre botonosa Fièvre boutonneuse hrdo:pat_id_11559 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável D014438 10014979 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Rickettsia+prowazekii+(typhus%5Bti%5D+OR+thyphus%5Bti%5D))+OR+Typhus,+Epidemic+Louse+Borne%5Bmajr%5D A75.0 83314 39111003 C0041473 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Epidemic typhus Fleckfieber, epidemisches Thyphus épidémique Tifo epidemico Tifo epidémico Tifus epidémico hrdo:pat_id_1156 C538034 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Trisomy+14q%5Bti%5D+OR+duplication+14q%5Bti%5D+OR+((chromosome+14)+14q*%5Btw%5D+trisomy))+NOT+(mosaicism+OR+monosomy+14q*%5Bti%5D) Q92.3 1705 C2931702 malformation syndrome Distal duplication 14q Duplication distale 14q Duplication télomérique 14q Duplicazione 14q distale Duplicazione 14q telomerica Telomeric duplication 14q Trisomia 14qter Trisomie 14qter Trisomie 14qter Trisomy 14qter Trisomía 14qter Trissomia 14qter Distal trisomy 14q Duplicación 14qter Duplicação 14qter Duplikation 14qter Trisomia 14q distale Trisomie distale 14q hrdo:pat_id_11560 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 10028282 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Murine+typhus%5Bti%5D+OR+Typhus,+Endemic+Flea-Borne%5Bmajr%5D A75.2 83315 25668000 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Fleckfieber, murines Murine typhus Tifo murino Tifo murino Tifus murino Typhus murin hrdo:pat_id_11561 Variabel Variabile Variable Variable Variable Variable Variável neant A79.8 83316 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Pseudo-tifo da Califórnia Pseudotifo della California Pseudotifus de Califonia Pseudotyphus California Pseudotyphus de la Californie Pseudotyphus of California hrdo:pat_id_11562 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Variabel Variabile Variable Variable Variable Variable Variável D012612 10039766 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Scrub+typhus%5Bti%5D+OR+Tsutsugamushi+Disease%5Bti%5D+OR+Scrub+typhus%5Bmajr%5D A75.3 83317 271425001 C0036472 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Doença de Tsutsugamushi Enfermedad de Tsutsugamushi Febbre di Tsutsugamushi Febre de Tsutsugamushi Fiebre Tsutsugamushi Fiebre de Tsutsugamushi Fièvre de Tsutsugamushi Fièvre fluviale du Japon Maladie de Tsutsugamushi Malattia di Tsutsugamushi Tsutsugamushi disease Tsutsugamushi fever Tsutsugamushi, doença de Tsutsugamushi-Fieber Tsutsugamushi-Krankheit Scrub Typhus Scrub typhus Tifo da acari Tifo dos arbustos Tifus de las malezas Typhus des broussailles hrdo:pat_id_11563 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 253300 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Muscular+Atrophy,+Spinal+(Diaphragmatic%5Bti%5D+OR+respiratory+distress%5Bti%5D+OR+type+i%5Bti%5D+OR+type+1%5Bti%5D+OR+sma1)+OR+Werdnig+Hoffman%5Bti%5D G12.0 83330 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 ASI Amyotrophie spinale infantile Atrofia muscolare spinale infantile Atrofia muscular espinal infantil Atrofia muscular espinhal infantil Doença de Werdnig-Hoffman Enfermedad de Werdnig-Hoffmann Infantile spinal muscular atrophy Maladie de Werdnig-Hoffmann Malattia di Werdnig-Hoffmann SMA-I SMA-I SMA-I SMA1 SMA1 SMA1 SMA1 Spinale Muskelatrophie, infantile Werdnig-Hoffman disease Werdnig-Hoffman-Krankheit Werdnig-Hoffmann disease Amyotrophie spinale proximale type 1 Atrofia muscolare spinale prossimale, tipo 1 Atrofia muscular espinal proximal de tipo 1 Atrofia muscular espinhal proximal tipo 1 Proximal spinal muscular atrophy type 1 Spinale Muskelatrophie, proximale, Typ 1 hrdo:pat_id_11565 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 253550 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Muscular+Atrophy,+Spinal+(type+ii%5Bti%5D+OR+type+2%5Bti%5D+OR+sma2+OR+chronic%5Bti%5D) G12.1 83418 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 ASI chronique Amyotrophie spinale infantile chronique Amyotrophie spinale intermédiaire Amyotrophie spinale proximale chronique Atrofia muscolare spinale cronica Atrofia muscolare spinale infantile cronica Atrofia muscolare spinale intermedia Atrofia muscular espinal crónica Atrofia muscular espinal infantil crónica Atrofia muscular espinal intermedia Atrofia muscular espinhal crónica Atrofia muscular espinhal intermédia Chronic infantile spinal muscular atrophy Chronic spinal muscular atrophy Intermediate spinal muscular atrophy SMA-II SMA-II SMA-II SMA2 SMA2 SMA2 Spinale Muskelatrophie, chronische Spinale Muskelatrophie, intermediäre Amyotrophie spinale proximale type 2 Atrofia muscolare spinale prossimale, tipo 2 Atrofia muscular espinal proximal de tipo 2 Atrofia muscular espinhal proximal tipo 2 Proximal spinal muscular atrophy type 2 Spinale Muskelatrophie, proximale, Typ 2 hrdo:pat_id_11566 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 253400 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Muscular+Atrophy,+Spinal+(type+iii%5Bti%5D+OR+type+3%5Bti%5D+OR+sma3+OR+(juvenile%5Bti%5D+chronic%5Bti%5D)+OR+Kugelberg+Welander%5Bti%5D) G12.1 83419 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Amyotrophie spinale proximale juvénile Atrofia muscolare spinale giovanile Atrofia muscular espinal juvenil Atrofia muscular espinhal juvenil Doença de Kugelberg-Welander Enfermedad de Kugelberg-Welander Juvenile spinal muscular atrophy Kugelberg-Welander disease Kugelberg-Welander, doença de Kugelberg-Welander-Krankheit Maladie de Kugelberg-Welander Malattia di Kugelberg-Welander SMA type 3 SMA-III SMA-III SMA-III SMA3 SMA3 SMA3 SMA3 Spinale Muskelatrophie, juvenile Type 3 SMA Amyotrophie spinale proximale type 3 Atrofia muscolare spinale prossimale, tipo 3 Atrofia muscular espinal proximal de tipo 3 Atrofia muscular espinhal proximal tipo 3 Proximal spinal muscular atrophy type 3 Spinale Muskelatrophie, proximale, Typ 3 hrdo:pat_id_11567 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 271150 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Muscular+Atrophy,+Spinal%5Bmajr%5D+OR+spinal+muscular+atrophy%5Bti%5D)+(type+iv%5Bti%5D+OR+type+4%5Bti%5D+OR+sma4+OR+adult%5Bti%5D+OR+Finkel%5Bti%5D) G12.1 83420 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Amyotrophie spinale proximale de l'adulte Atrofia muscolare spinale dell'adulto Atrofia muscular espinal, forma adulta Atrofia muscular espinhal do adulto SMA-IV SMA-IV SMA-IV SMA4 SMA4 SMA4 SMA4 Spinal muscular atrophy, adult form Spinale Muskelatrophie, adulte Amyotrophie spinale proximale type 4 Atrofia muscolare spinale prossimale, tipo 4 Atrofia muscular espinal proximal de tipo 4 Atrofia muscular espinhal proximal tipo 4 Proximal spinal muscular atrophy type 4 Spinale Muskelatrophie, proximale, Typ 4 hrdo:pat_id_11568 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance D007177 10053198 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=inappropriate+adh+syndrome%5Bmh%5D+OR+Inappropriate+antidiuretic+hormone+secretion+syndrome%5Bti%5D E22.2 83449 55004003 C0021141 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 NSIAD SIADH SIADH SIADH SIADH Inappropriate antidiuretic hormone secretion syndrome Sindrome da secrezione inappropriata dell'ormone antidiuretico Syndrom der inadäquaten Sekretion von antidiuretischem Hormon Syndrome de sécrétion inappropriée d'hormone anti-diurétique Síndrome de secreción inapropiada de hormona antidiurética Síndrome nefrogénico de anti-diurese inadequada hrdo:pat_id_11569 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Regional+odontodysplasia K00.4 83450 66063001 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 '''Geisterzähne''' Dentes fantasmas Denti fantasma Dents fantômes Dents évanescentes Diente fantasma Dientes fantasmas Ghost teeth Odontodisplasia regional Odontodisplasia regional Odontodisplasia regionale Odontodysplasie régionale Odontodysplasie, regionale Regional odontodysplasia hrdo:pat_id_11570 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 137575 C537063 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Florid+osseous+dysplasia+OR+Focal+cemento-osseous D16.4 D16.5 83451 63937004 C0555197 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Displasia cemento-ósea focal Displasia cemento-óssea focal Displasia florida ossea Displasia florida ósea Displasia focale cemento-ossea Displasia ósea florida Displasia óssea florida Dysplasie cémento-osseuse focale Dysplasie osseuse floride Dysplasie, floride ossäre Florid osseous dysplasia Focal cemento-osseous dysplasia Displasia cemento-ósea florida Displasia cemento-óssea florida Displasia florida cemento-ossea Dysplasie cémento-osseuse floride Dysplasie, floride zemento-ossäre Florid cemento-osseous dysplasia hrdo:pat_id_11571 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável D020918 10064332 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=algodystrophy%5Bti%5D+OR+Complex+Regional+Pain+Syndrome+OR+Reflex+Sympathetic+Dystrophy%5Bti%5D G56.4 M89.0 83452 128200000 C0458219 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Complex regional pain syndrome Komplexes regionales Schmerzsyndrom Sindrome da dolore regionale complesso Syndrome douloureux régional complexe Síndrome de dolor regional complejo Síndrome dor regional complexa hrdo:pat_id_11572 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Vulvovaginal+gingival%5Btw%5D+OR+%28gingival+diseases%5Bmh%5D+vulvar+diseases%5Bmh%5D+vaginal+diseases%5Bmh%5D+lichen+planus%29 L43.8 83453 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome vulvovaginale-gengivale Syndrome vulvo-vaginal-gingival Síndrome vulvo-vaginal - gengival Síndrome vulvovaginal-gingival Vulvovagina-Gingiva-Syndrom Vulvovaginal gingival syndrome hrdo:pat_id_11573 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 138000 C536827 10018381 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Glomuvenous+malformation*+OR+((Skin+Neoplasms+OR+arteriovenous+malformations%5Bmh%5D)+Glomus+Tumor) Q27.8 83454 403969002 C1841984 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Células glómicas con malformaciones venosas Glomangioma multiples héréditaires Glomangiomas múltiples hereditarios Glomangiomatose Glomangiomatose Glomangiomatosi Glomangiomatosis Glomangiomatosis Glomangiome, hereditäre multiple Glomangiomi multipli ereditari Glomustumoren, multiple Hereditary multiple glomangiomas Malformation veineuse avec cellule glomique Malformazioni venose con cellule glomiche Multiple glomus tumors Tumeurs glomiques multiples Tumores glómicos múltiples Tumori glomici multipli VMGLOM VMGLOM VMGLOM Venous malformations with glomus cells Venöse Malformationen mit Glomuszellen (VMGLOM) Glomuvenous malformation Glomuvenöse Malformation Malformación glomuvenosa Malformation glomuveineuse Malformazione glomovenosa Malformações glomuvenosas hrdo:pat_id_11574 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 610256 C537786 10002947 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=aphakia%2Fcn+primary+OR+Congenital+primary+aphakia%5Btw%5D+OR+primary+congenital+aphakia%5Btw%5D Q12.3 83461 35387008 C1853230 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Afachia congenita primitiva Afaquia primaria congénita Afaquia primária congénita Aphakie primaire congénitale Aphakie, kongenitale primäre Congenital primary aphakia hrdo:pat_id_11575 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 128800 600674 607842 C537772 10027555 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Microtia%5Bti%5D Q17.2 83463 35045004 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Microtia Microtia Microtia Microtia Microtie Mikrotie hrdo:pat_id_11576 Normal Normal Normal Normal Normal Normal Normale Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 612417 614223 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Narcolepsy%5Bti%5D+NOT+cataplexy+OR+Narcolepsy%5Bmajr%3Anoexp%5D G47.4 83465 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Nacolepsia sem cataplexia Narcolepsia sin cataplexia Narcolepsie sans cataplexie Narcolepsy without cataplexy Narcolessia senza cataplessia Narkolepsie ohne Kataplexie hrdo:pat_id_11577 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=morvan+syndrome%5Btw%5D+OR+%22morvan+s+syndrome%22 G60.8 83467 disease Chorée fibrillaire de Morvan Corea fibrilar de Morvan Corea fibrillare di Morvan Encefalite limbica - neuromiotonia - iperidrosi - polineuropatia Encefalitis límbica - neuromiotonía - hiperhidrosis - polineuropatía Encéphalite limbique - neuromyotonie - hyperhidrose - polyneuropathie Limbic encephalitis - neuromyotonia - hyperhidrosis - polyneuropathy Limbische Enzephalitis - Neuromyotonie - Hyperhidrose - Polyneuropathie Morvan's fibrillary chorea Morvan syndrome Morvan-Syndrom Sindrome di Morvan Syndrome de Morvan Síndrome de Morvan Síndrome de Movan hrdo:pat_id_11578 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28solitary%5Bti%5D+OR+unicameral%5Bti%5D%29+AND+%28bone+cyst*%5Btw%5D+OR+bone+cysts%5Bmh%5D%29 M85.4 83468 203467005 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cisti ossea a camera unica Knochenzyste, unikamerale Kyste osseux unicaméral Quiste óseo unicameral Quistes óseos unicamerales Quisto ósseo unicameral Unicameral bone cyst Cisti ossea solitaria Knochenzyste, solitäre Kyste osseux solitaire Quiste óseo solitario Quisto ósseo solitário Solitary bone cyst hrdo:pat_id_11579 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter D058405 10064581 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Desmoplastic+small+round+cell%5Bti%5D+OR+(Desmoplastic+small+round+cell%5Btw%5D+Carcinoma,+Small+Cell) C48.2 83469 128735004 C0281508 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 DSRCT DSRCT DSRCT DSRCT DSRCT Tumeur desmoplastique à petites cellules rondes Desmoplastic small round cell tumor Rundzelltumor, desmoplastischer Tumeur desmoplastique à petites cellules Tumor de células pequenas redondas desmoplásicas Tumor desmoplásico de células pequeñas y redondas Tumore desmoplastico a piccole cellule rotonde hrdo:pat_id_11580 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 242700 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Nezelof%5Bti%5D+OR+Nezelof's%5Bti%5D+OR+((aplas*+OR+hypoplas*)(thymus%5Bti%5D+OR+thymic%5Bti%5D)+Antibody+Deficiency+Syndrome%5Bmh%3Anoexp%5D) D81.4 83471 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Aplasia de timo Aplasia do timo Aplasia timica Aplasia tímica Nezelof syndrome Nezelof, síndrome de Nezelof-Syndrom Sindrome di Nezelof Syndrome de Nezelof Síndrome de Nezelof Síndrome de Nezelof Thymusaplasie Immundefekt durch Thymusaplasie Immunodeficiency due to absence of thymus Immunodeficienza da assenza del timo Immunodéficience par absence de thymus Imunodeficiência por ausência do timo Inmunodeficiencia debido a ausencia de timo hrdo:pat_id_11581 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 606937 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=cerebellar+ataxia+(mental+retardation+%22optic+atrophy%22+skin+abnormalities+OR+CAMOS) G11.1 83472 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atassia cerebellare - deficit cognitivo - atrofia ottica - anomalie cutanee Ataxia cerebelosa - défice intelectual - atrofia óptica - alterações cutâneas Ataxia cerebelosa - défice intelectual - atrofia ótica - alterações cutâneas Ataxia cerebelosa - déficit intelectual - atrofia óptica - anomalías cutáneas Ataxia cerebral - déficit intelectual - atrofia óptica - anomalías de la piel Ataxie cérébelleuse - déficit intellectuel - atrophie optique - anomalies cutanées Ataxie, zerebelläre - Intelligenzminderung - Optikusatrophie - Hautanomalien Cerebellar ataxia - intellectual deficit - optic atrophy - skin abnormalities SCAR5 SCAR5 SCAR5 SCAR5 SCAR5 CAMOS syndrome CAMOS-Syndrom Sindrome CAMOS Syndrome CAMOS Síndrome CAMOS Síndrome CAMOS hrdo:pat_id_11582 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 603387 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Megalencephaly+polymicrogyria+polydactyly Q04.8 83473 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 MPPH syndrome MPPH, síndrome MPPH-Syndrom Sindrome MPPH Syndrome MPPH Síndrome MPPH Síndrome MPPH Megalencefalia - polimicrogiria - polidactilia postaxial - hidrocefalia Megalencefalia - polimicrogiria - polidactilia pós-axial - hidrocefalia Megalencefalia - polimicrogiria - polidattilia post-assiale - idrocefalo Megalencephaly - polymicrogyria - post-axial polydactyly - hydrocephalus Megalenzephalie - Polymikrogyrie - postaxiale Polydaktylie - Hydrozephalus Mégalencéphalie - polymicrogyrie - polydactylie postaxiale - hydrocéphalie hrdo:pat_id_11583 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&details_term=West+Nile+Fever%5Bmh%5D+OR+West+Nile+Fever%5Bti%5D A92.3 83476 392662004 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Febbre del Nilo occidentale Febre do Oeste do Nilo Fiebre del Nilo occidental Fièvre West-Nile West-Nil-Fieber West-Nile fever Encefalia do Oeste do Nilo Encefalite del Nilo occidentale Encefalitis del Nilo occidental Encéphalite West-Nile West-Nil-Enzephalitis West-Nile encephalitis hrdo:pat_id_11584 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Mycoplasma%5Bti%5D+OR+Mycoplasma+infections)+(encephalitis%5Bti%5D+OR+encephalitis%5Bmh%5D) B96.0 83482 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Encefalite da micoplasma Encefalite por micoplasma Encefalitis causada por Mycoplasma Encéphalite à mycoplasmes Mycoplasma encephalitis Mykoplasmen-Enzephalitis hrdo:pat_id_11585 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável D004670 10014584 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&details_term=Encephalitis%2C+California A83.5 83483 416442006 417075004 418531007 C0014053 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown California encephalitis Encefalite da Califórnia Encefalite della California Encefalitis de California Encéphalite de Californie Kalifornische Enzephalitis hrdo:pat_id_11586 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável D004674 10041896 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&details_term=Encephalitis%2C+St.+Louis A83.3 83484 417192005 417607009 C0014060 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Encefalite de St. Louis Encefalite di St Louis Encefalitis de St. Louis Encéphalite de St Louis St Louis encephalitis St.-Louis-Enzephalitis hrdo:pat_id_11587 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 10014614 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&details_term=Encephalomyelitis%2C+Western+Equine A83.1 83593 47523006 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Encefalomielite equina dell'Ovest Encefalomielite equina ocidental Encefalomielitis equina oriental Encéphalomyélite équine de l'ouest Western equine encephalomyelitis Western-Equine-Encephalitis Encefalite equina dell'Ovest Encefalite equina ocidental Encefalitis equina oriental Encéphalite équine de l'ouest Western equine encephalitis Westliche Pferdeenzephalitis hrdo:pat_id_11588 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 10014587 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Eastern+equine+encephalitis A83.2 83594 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Eastern equine encephalomyelitis Eastern-Equine-Encephalitis Encefalomielite equina dell'Est Encefalomielite equina oriental Encefalomielitis equina oriental Encéphalomyélite équine de l'est Eastern equine encephalitis Encefalite equina dell'Est Encefalite equina oriental Encefalitis equina oriental Encéphalite équine de l'est Östliche Pferdeenzephalitis hrdo:pat_id_11589 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável D003121 10010022 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&details_term=Colorado+Tick+Fever A93.2 83595 6452009 C0009400 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown American mountain fever Colorado tick encephalitis Colorado tick-borne disease Colorado-Enzephalitis Encefalite da carraça do Colorado Encefalite da zecca del Colorado Encefalitis por garrapata del Colorado Encefalitis por garrapatas de Colorado Encéphalite à tiques du Colorado Mountain fever Mountain tick fever Colorado tick fever Colorado-Zeckenfieber Febbre da zecca del Colorado Febre da carraça do Colorado Fiebre por garrapatas de Coloado Fièvre à tiques du Colorado hrdo:pat_id_11590 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=acute+disseminated%5Btw%5D+Encephalitis+OR+Encephalomyelitis,+Acute+Disseminated%5Bmh%5D G04.0 83597 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown ADEM ADEM ADEM ADEM Acute disseminated encephalomyelitis EMAD EMDA Encefalomielite acuta disseminata Encefalomielite disseminada aguda Encefalomielitis aguda diseminada Encéphalomyélite aiguë disséminée Enzephalomyelitis, akute disseminierte Acute disseminated encephalitis Encefalite acuta disseminata Encefalite disseminada aguda Encefalitis diseminada aguda Encéphalite aiguë disséminée Enzephalitis, akute disseminierte hrdo:pat_id_11591 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 10052369 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Encephalitis+lethargica A85.8 83600 186499007 C0014040 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Economo-Enzephalitis Encefalite letargica Encefalite letárgica Encefalitis letárgica Encephalitis lethargica Encephalitis lethargica Encéphalite léthargique hrdo:pat_id_11592 Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Hashimoto%27s+encephalitis%5Btw%5D+OR+Hashimoto+encephalitis%5Btw%5D+OR+%28Thyroiditis%2C+Autoimmune%5Bmh%5D+Encephalitis%5Bmh%5D%29 G04.8 83601 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Encefalite di Hashimoto Encefalitis de Hashimoto Encéphalite d'Hashimoto Hashimoto encephalitis Hashimoto-Enzephalitis SREAT SREAT SREAT SREAT SREAT Encefalite de Hashimoto Encefalitis sensible a esteroides asociada con tiroiditis autoinmune Encefalopatia sensibile agli steroidi associata a tiroidite autoimmune Encéphalopathie sensible aux stéroïdes associée à une thyroidite autoimmune Steroid-responsive Enzephalopathie mit assoziierter Autoimmun-Thyroiditis Steroid-responsive encephalopathy associated with autoimmune thyroiditis hrdo:pat_id_11594 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Rubella%5Bti%5D+OR+rubella+virus%5Bmajr%5D)+(Encephalitis,+viral%5Bmh%5D+OR+Encephalitis%5Bti%5D) B06.0+ G05.1* 83616 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Panencefalite da rosolia Panencefalite por rubéola Panencefalitis por rubéola Panencéphalite rubéoleuse Rubella panencephalitis Rubella-Panenzephalitis hrdo:pat_id_11595 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 610483 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Agammaglobulinemia+microcephaly+craniosynostosis D82.8 83617 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Agamaglobulinemia - micrcefalia - craniossinostose - dermatite grave Agammaglobulinemia - microcefalia - craneosinostosis - dermatitis severa Agammaglobulinemia - microcefalia - craniosinostosi - dermatite grave Agammaglobulinemia - microcephaly - craniosynostosis - severe dermatitis Agammaglobulinämie - Mikrozephalie - Kraniosynostose - schwere Dermatitis Agammaglobulinémie - microcéphalie - craniosténose - dermatite sévère hrdo:pat_id_11596 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 115200 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(lamin%5Bti%5D+OR+LMNA%5Bti%5D+OR+lamins%5Bmh%5D)+(dilated+cardiomyopathy%5Bti%5D+OR+dilated+cardiomyopathy%5Bmh%5D) I42.0 83618 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cardiomiopatia dilatada grave com ou sem miopatia Cardiomiopatia dilatativa grave con o senza miopatia Cardiomiopatía dilatada severa con o sin miopatía Cardiomyopathie dilatée sévère avec ou sans myopathie Kardiomyopathie, dilatative schwere, mit oder ohne Myopathie Miocardiopatía dilatada grave con o sin miopatía Severe dilated cardiomyopathy with or without myopathy Cardiomiopatia dilatada grave por mutação na lamina A/C Cardiomiopatia dilatativa grave da mutazione di lamina A/C Cardiomyopathie dilatée sévère due à une mutation du gène de la lamine A/C Kardiomyopathie, dilatative schwere, mit Lamin A/C-Mutationen Miocardiopatía dilatada severa debido a mutaciones de la lamina A/C Severe dilated cardiomyopathy due to lamin A/C mutation hrdo:pat_id_11597 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Macrostomia+preauricular+tags+ophthalmoplegia Q87.0 83619 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Macrostomia - appendici preauricolari - oftalmoplegia esterna Macrostomia - apêndices pré-auriculares - oftalmoplegia externa Macrostomia - papiloma preauricular - oftalmoplejía externa Macrostomia - preauricular tags - external ophthalmoplegia Macrostomie - anomalies préauriculaires - ophtalmoplégie externe Makrostomie - präaurikuläre Anhängsel - externe Ophthalmoplegie hrdo:pat_id_11598 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 610370 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(diarrhea%5Bti%5D+OR+Malabsorption+Syndromes%5Bmh%5D)+enteroendocrine+cells+(congenital+OR+genetics+OR+inherited) P78.3 83620 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anendocrinose entérique Anendocrinosis entérica Enteric anendocrinosis Anendocrinose entérica Anendocrinosi intestinale congenita da diminuzione delle cellule gangliari enteriche Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells Diarrea congénita con malabsoción debido a insuficiencia de células enteroendocrinas Diarrhoe, kongenitale malabsorptive, durch Mangel an enteroendokrinen Zellen Diarrhée malabsorptive congénitale par diminution des cellules endocriniennes entérales hrdo:pat_id_11599 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=hemangioma+(PELVIS+syndrome%5Btw%5D+OR+(perineal%5Bti%5D+OR+perineum%5Bmh%5D)+(genital*+OR+anorectal)) Q87.8 83628 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Emangioma perineale - malformazioni dei genitali esterni - lipomielomeningocele - anomalie vescicorenali - ano imperforato Fehlbildungssequenz des urorektalen Septums Hemangioma perineal - malformações genitais externas - lipomielomeningocelo - anomalias vesico-renais - ânus imperfurado Hémangiome périnéal - malformations génitales - lipomyéloméningocèle - anomalies vésicorénales Perineal hemangioma - external genitalia malformations - lipomyelomeningocele - vesicorenal abnormalities - imperforate anus Perineales Hämangiom - externe Genitalfehlbildungen - Lipomyelomeningozele - vesikorenale Anomalien - Anus imperforatus Secuencia de malformación del septo urorectal Sequenza malformativa del setto urorettale Séquence de malformation du septum urorectal Urorectal septum malformation sequence PELVIS syndrome PELVIS-Syndrom Sindrome PELVIS Syndrome PELVIS Síndrome PELVIS Síndrome PELVIS hrdo:pat_id_116 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 190685 D004314 10044688 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%28%22down+syndrome%22%5BTI%5D+OR+Trisomy+21%5BTi%5D+OR+21+Trisomy%5BTi%5D%29+NOT+Medline%5BSB%5D%29+OR+%22down+syndrome%22%5BMajr%5D Q90 870 41040004 C0013080 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Down, síndrome de Syndrome de Down Síndrome de Down Trisomia 21 Trisomie 21 Trisomy 21 Trisomía 21 Down syndrome Down-Syndrom Sindrome di Down Síndrome de Down Trisomie 21 Trissomia 21 hrdo:pat_id_1160 610883 C536578 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(trisomy%5Bti%5D+OR+microduplication%5Bti%5D+OR+duplication%5Bti%5D+OR+((chromosome+17)+trisomy%5Bmh%5D))+17p11*%5Bti%5D Q92.3 1713 C2931246 malformation syndrome Potocki-Lupski syndrome Sindrome di Potocki-Lupski Syndrome de Potocki-Lupski Síndrome de Potocki-Lupski Trisomia 17p11.2 Trisomie 17p11.2 Trisomy 17p11.2 Trisomía 17p11.2 Trissomia 17p11.2 17p11.2 microduplication syndrome Duplicação 17p11.2 Mikroduplikationssyndrom 7p11.2 Sindrome da microduplicazione 17p11.2 Syndrome de microduplication 17p11.2 Síndrome de microduplicación 17p11.2 hrdo:pat_id_11600 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 300660 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Leukoencephalopathy+metaphyseal+chondrodysplasia G11.4 83629 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Leucoencefalopatia - condrodisplasia metafisaria Leucoencefalopatia - condrodisplasia metafisária Leucoencefalopatía - condrodisplasia metafisaria Leucoencéphalopathie - chondrodysplasie métaphysaire Leukoencephalopathy - metaphyseal chondrodysplasia Leukoenzephalopathie - metaphysäre Chondrodysplasie hrdo:pat_id_11601 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 610293 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(glycosylphosphatidylinositol+deficiency+OR+Glycosylphosphatidylinositols%2Fdf)+(phosphatidylinositol+GLYCAN+CLASS+M+OR+PIGM) E88.8 83639 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 PIGM-CDG syndrome Sindrome PIGM-CDG Syndrome PIGM-CDG Síndrome PIGM-CDG Síndrome de hipercoagulabilidad por deficiencia de glicosilfosfatidilinositol Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency Hyperkoagulabilitätssyndrom durch Glykosylphosphatidyl-Inositol-Mangel Sindrome da ipercoagulabilità dovuta a deficit di glicosilfosfatidilinositolo Syndrome d'hypercoagulabilité par déficit héréditaire en glycosyl phosphatidyl inositol Síndrome de hipercoagulabilidad por déficit de glicosilfosfatidilinositol Síndrome hipercoagulabilidade por deficiência de glicosilfosfatidilinositol hrdo:pat_id_11602 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 206100 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Microcytic+anemia+(liver+iron+overload)+ferritinemia D50.8 83642 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anemia microcitica associata a sovraccarico epatico di ferro Anemia microcítica - sobrecarga hepática de ferro - ferritinemia baixa Anemia microcítica con sobrecarga hepática de hierro Anémie microcytaire avec surcharge hépatique en fer Microcytic anemia with liver iron overload Mikrozytische Anämie mit hepatischer Eisenüberladung hrdo:pat_id_11603 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Mental+retardation,+X-linked+macrocephaly+ciliary Q87.0 83648 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Ataso mental ligado ao X recessivo - macrocefalia - disfunção ciliar Déficit intelectual recesivo ligado al X - macrocefalia - disfunción de los cilios Déficit intellectuel récessif lié à l'X - macrocéphalie - dysfonction ciliaire Geistige Retardierung, X-chromosomal-rezessive - Makrozephalie - Ziliendysfunktion Ritardo mentale recessivo legato all'X - macrocefalia - disfunzione ciliare X-linked recessive intellectual deficit - macrocephaly - ciliary dysfunction hrdo:pat_id_11605 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 222470 614602 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=%22syndromic+diarrhea%22+OR+(syndromatic+diarrhea*)++OR+tricho+hepato+enteric%5Btw%5D+OR+(intractable+diarrhea%5Btw%5D+hair%2Fab) 84064 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Diarrea fenotípica Diarrea sindromática Diarrea sindrómica Diarrhée phénotypique Phenotypic diarrhea SD/THE Syndromatic diarrhea Syndrome tricho-hépato-entérique Syndromic diarrhea/Tricho-hepato-enteric syndrome Síndrome trico-hepato-entérico Síndrome trico-hepático-entérico Tricho-hepato-enteric syndrome Diarrea sindromica Diarrea sindrómica Diarreia sindrómica Diarrhoe, syndromale Diarrhée syndromique Syndromic diarrhea hrdo:pat_id_11606 607765 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Bile+Acids+and+Salts%2Fdf+OR+bile+acid+deficiency%5Btw%5D)+(malabsorption%5Bti%5D+OR+Malabsorption+Syndromes) K90.8 84065 disease Idiopathic bile acid malabsorption Malassorbimento idiopatico degli acidi biliari Má absorção idiopática de ácidos biliares Idiopathic malabsorption due to bile acid synthesis defects Malabsoción idiopática por defectos en la síntesis de ácidos biliares Malabsorption durch Gallensäuresynthesedefekt, idiopathische Form Malabsorption idiopathique par défaut de synthèse des acides biliaires Malassorbimento idiopatico da difetto della sintesi degli acidi biliari Má absorção por deficiência na síntese de ácidos biliares, idiopática hrdo:pat_id_11612 Variabel Variabile Variable Variable Variable Variable Variável 613550 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=nephronophthisis+(congenital+hepatic+fibrosis+OR+liver+cirrhosis%2Fcn) 84081 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Boichis disease Boichis-Krankheit Enfermedad de Boichis Maladie de Boichis Nefronoftisi - fibrosi epatica - degenerazione tapetoretinica - deficit cognitivo Nefronoptise - fibrose hepática Nefronoptisis - fibrosis hepática - degeneración tapetoretiniana - déficit intelectual Nephronophthise - Leberfibrose Nephronophthise - hepatische Fibrose - tapetoretinale Degeneration - Intelligenzminderung Nephronophthisis - hepatic fibrosis - tapetoretinal degeneration - intellectual deficit Néphronophthise - fibrose hépatique - dégénérescence tapétorétinale - déficit intellectuel Sindrome di Boichis Senior-Boichis syndrome Senior-Boichis-Syndrom Sindrome di Senior-Boichis Syndrome de Senior-Boichis Síndrome de Boichis Síndrome de Senior-Boichis hrdo:pat_id_11613 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Urinary+Bladder,+Neurogenic)+(nonneurogenic+OR+non+neurogenic%5Btw%5D)+OR+Hinman+syndrome%5Btw%5D+OR+Hinman's+syndrome%5Btw%5D N32.8 84085 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Bexiga neurogénica não neurogénica Dyssynergie vésico-sphinctérienne fonctionnelle HAS HAS HAS HAS HAS HS HS HS HS HS Hinman syndrome Hinman-Allen syndrome Hinman-Allen-Syndrom Neuro-vessie non neurogène Neuro-vessie occulte Nicht-neurogene neurogene Blase Non-neurogenic neurogenic bladder Occult neuropathic bladder Okkulte neurogene Blase Sindrome di Hinman-Allen Syndrome de Hinman-Allen Síndrome de Hinman-Allen Vejiga neurogénica no neurogénica Vejiga neuropática oculta Vescica neurogena non neurogena Vescica neuropatica occulta Vessie neurogène non neurogène Vessie neurologique non neurologique et non neurogène Hinman's syndrome Hinman-Syndrom Sindrome di Hinman Syndrome de Hinman Síndrome de Hinman Síndrome de Hinman hrdo:pat_id_11614 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Collagen+type+III%5Bmh%5D+OR+Collagen+type+III+%5Bti%5D%29+%28glomerulopath*+OR+Glomerulonephritis%29 N07.6 84087 disease Collagen type III glomerulopathy Glomerulopatia da anomalie del collagene di tipo 3 Glomerulopatia de colagénio tipo III Glomerulopatía por colágeno de tipo 3 Glomérulopathie à dépôts de collagène de type III Kollagen III-Glomerulopathie hrdo:pat_id_11615 Variabel Variabile Variable Variable Variable Variable Variável 137950 601894 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=fibronectin+deposit*%5Btw%5D+%28glomerulopath*+OR+Glomerulonephritis+OR+GLOMERULAR+NEPHRITIS%5Btw%5D%29+OR+fibronectin+glomerulopath*%5Btw%5D N07.6 84090 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 GFND GFND Glomerulopathie mit Fibronektin-Ablagerung (GFND) Glomerulopathy with fibronectin deposits Glomerulopatia com depósitos de fibronectina (GFND) Glomerulopatia con depositi di fibronectina (GFND) Glomerulopatía con depósitos de fibronectina Fibronectin glomerulopathy Fibronektin-Glomerulopathie Glomerulopatia da fibronectina Glomerulopatía por fibronectina Glomérulopathie à dépôts de fibronectine Glumerolopatia de fibronectina hrdo:pat_id_11616 602107 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Thermosensitive+neuropath*%5Btw%5D+OR+heat+sensitive+neuropath*%5Btw%5D G60.0 84093 disease Hereditary thermosensitive neuropathy Neuropathie thermosensible héréditaire Neuropathie, hereditäre thermosensitive Neuropatia termosensibile ereditaria Neuropatia termossensitiva hereditária Neuropatía termosensible hereditaria hrdo:pat_id_11617 neant E75.2 84096 disease Leucodistrofia de causa desconhecida Leucodistrofia desconocida Leucodistrofia non nota Leucodystrophie de cause inconnue Leukodystrophie unbekannter Ursache Unknown leukodystrophy hrdo:pat_id_11618 602771 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(myopathy+OR+muscular+Diseases)+Mallory%5Btiab%5D G71.8 84132 disease Early-onset desmin-related myopathy Miopatia desmina-correlata a esordio precoce Miopatia relacionada com a desmina de início precoce Miopatía de aparición temprana relacionada con la desmina Miopatía precoz relacionada con desmina Myopathie avec surcharge en desmine de début précoce Myopathie, desmin-abhängige früh-einsetzende Desmin-related myopathy with Mallory body-like inclusions Miopatia desmina-correlata con inclusioni simil-corpi di Mallory Miopatia relacionada com a desmina com inclusões tipo corpos de Mallory Miopatía relacionada con desmina y con inclusiones tipo cuerpos de Malloy Myopathie avec surcharge en desmine et inclusions de corps de Mallory Myopathie, desmin-abhängige, mit Mallory Körperchen-ähnlichen Einschlüssen hrdo:pat_id_11619 neant G71.1 84142 disease Acquired neuromyotonia Neuromiotonia acquisita Neuromiotonia adquirida Neuromiotonía adquirida Neuromyotonie acquise Neuromyotonie, erworbene Isaac's syndrome Isaacs-Syndrom Sindrome di Isaac Syndrome d'Isaac Síndrome de Isaac Síndrome de Isaac hrdo:pat_id_11620 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(isolated+OR+sporadic)+Nephrotic+syndrome+steroid+resistant N04 84271 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Nefrose idiopática esporádica Nefrosi idiopatica, forma sporadica Nephrose, idiopathische, sporadische Form Néphrose idiopathique sporadique Sporadic idiopathic nephrosis Nephrotisches Syndrom, idiopathisches steroid-resistentes, sporadisches Sindrome nefrosica idiopatica sporadica steroido-resistente Sporadic idiopathic steroid-resistant nephrotic syndrome Sporadic idiopathic steroid-resistant nephrotic syndrome Syndrome néphrotique idiopathique sporadique cortico-résistant Síndrome nefrótico resistente aos esteróides idiopático, esporádico hrdo:pat_id_11621 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Perineurioma*%5Bti%5D+OR+(Perineurioma*%5Btw%5D+Nerve+Sheath+Neoplasms%5Bmh%5D) C47.9 85102 128795001 404036006 C0751691 group of phenomes Perineurinoma Perineuriom Perineurioma Perineurioma Perineurioma Périneuriome hrdo:pat_id_11622 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 604218 C536841 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Encephalopath*+(neuroserpin+OR+serpins%5Bmh%5D)+inclusion+bodies G31.8 85110 C1858680 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 FENIB FENIB FENIB FENIB FENIB Encefalopatia com corpos de inclusão de neuroserpina, forma familiar Encefalopatia con corpi inclusi di neuroserpina, forma familiare Encefalopatía con cuerpos de inclusión de neuroserpina, forma familiar Encéphalopathie familiale avec corps d'inclusion de neuroserpine Enzephalopathie mit Neuroserpin-Einschlüssen, familiäre Form Familial encephalopathy with neuroserpin inclusion bodies hrdo:pat_id_11623 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 610644 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Palmoplantar+keratoderma+sex+reversal+squamous+cell+carcinoma Q56.0 85112 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hiperqueratosis palmoplantar - cambio de sexo XX - predisposición a carcinoma de células escamosas Hyperkératose palmoplantaire - ambiguïté sexuelle XX - prédisposition au carcinome spinocellulaire Ipercheratosi palmoplantare - inversione sessuale XX - predisposizione al carcinoma a cellule squamose Palmoplantar hyperkeratosis - XX sex reversal - predisposition to squamous cell carcinoma Cheratoderma palmoplantare - inversione sessuale XX - predisposizione al carcinoma a cellule squamose Kératodermie palmoplantaire - ambiguïté sexuelle XX - prédisposition au carcinome spinocellulaire Palmoplantar keratoderma - XX sex reversal - predisposition to squamous cell carcinoma Palmoplantarkeratose - XX-Geschlechtsumkehr - Prädisposition für squamöse Zellkarzinome Queratodermia palmoplantar - inversión de sexo XX - predisposición a carcinoma de células escamosas Queratodermia palmoplantar - reversão sexual XX - predisposição a carcinoma de células escamosas hrdo:pat_id_11624 607475 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Bothnia+(retinaldehyde+binding%5Btw%5D+OR+RLBP1+OR+retinal+dystrophy%5Btw%5D+OR+retinitis+pigmentosa)+OR+Bothnia+dystrophy%5Btw%5D H35.5 85128 disease Distrofia de Västerbotten Distrofia di Västerbotten Dystrophie type Västerbotten Västerbotten Dystrophie Västerbotten dystrophy Bothnia retinal dystrophy Distrofia de retina de Bothnia Distrofia retinica di Bothnia Dystrophie rétinienne type Bothnie Netzhautdystrophie Typ Bothnia Retiniana tipo Bothnia, distrofia hrdo:pat_id_11625 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 612951 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=leukoencephalopath*%5Bti%5D+(cysts+OR+cystic)+NOT+(Megalencephal*+OR+macrocephal*) E75.2 85136 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CLWM CLWM CLWM CLWM CLWM Cystic leukoencephalopathy without megalencephaly Leucoencefalopatia cistica senza megalencefalia Leucoencefalopatia quística sem megalencefalia Leucoencefalopatía quística sin megalencefalia Leucoencéphalopathie kystique sans mégalencéphalie Zystische Leukoenzephalopathie ohne Megalenzephalie hrdo:pat_id_11626 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 103230 240200 D000224 10001130 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=addison+disease%5Bti%5D+OR+addison+disease%5Bmh%5D+OR+Addison's+disease%5Bti%5D E27.1 85138 363732003 76715008 C0001403 C0271737 disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Adrenalitis autoinmune Autoimmune Addison's disease Autoimmune adrenalitis Classic Addison's disease Enfermedad de Addison autoinmune Enfermedad de Addison clásica Enfermedad de Addison primaria Insufficienza surrenalica cronica acquisita Ipocortisolismo acquisito Maladie d'Addison auto-immune Maladie d'Addison classique Maladie d'Addison primaire Primary Addison's disease Addison disease Addison-Krankheit Doença de Addison Enfermedad de Addison Maladie d'Addison Malattia di Addison hrdo:pat_id_11627 Variabel Variabile Variable Variable Variable Variable Variável D018246 10056950 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=((Aldosterone%5Bmh%5D+OR+Hyperaldosteronism)+Adrenocortical+Adenoma)+OR+Conn+Adenoma%5Btw%5D+OR+Conn+Disease%5Btw%5D+OR+Conn's+Disease%5Btw%5D E26.0 85142 C0009777 C1112553 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 APA APA APA APA APA Adenoma de Conn Adenoma di Conn Adenoma secernente aldosterone Adenoma secretante de aldosterona Adenome, Aldosteron-sezernierendes Aldosterone-secreting adenoma Aldosteronismo primario debido a adenoma de Conn Aldosteronismo primitivo da adenoma di Conn Aldosteronismus, primärer Aldosteronom Aldosteronoma Aldosteronoma Aldosteronoma Aldostéronisme primitif dû à un adénome de Conn Aldostéronome Conn adenoma Conn's adenoma Conn-Adenom Conn-Syndrom Hyperaldosteronismus, primärer Hyperaldostéronisme primitif dû à un adénome de Conn Primary aldosteronism due to Conn adenoma Primary aldosteronism due to Conn's adenoma Adenom, Aldosteron-produzierendes Adenoma producente aldosterone Adenoma productor de aldosterona Adénome secréteur d'aldostérone Aldosterone-producing adenoma Síndrome de Conn hrdo:pat_id_11628 181400 181405 181430 300695 neant G12.1 85146 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant disease Kaeser syndrome Neurogenic scapuloperoneal syndrome Sindrome di Kaeser Sindrome di Stark-Kaeser Sindrome scapoloperoneale, tipo neurogeno Stark-Kaeser syndrome Syndrome de Kaeser Syndrome de Stark-Kaeser Syndrome scapulo-péronier type neurogénique Síndrome de Kaeser Síndrome de Stark-Kaeser Síndrome escapuloperoneal de tipo neurogénico Amiotrofia escapuloperoneal Amiotrofia escapuloperonial Amiotrofia scapoloperoneale Amyotrophie spinale scapulo-péronière Muskelatrophie, scapulo-peroneale Scapuloperoneal amyotrophy hrdo:pat_id_11629 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=facial%5Bti%5D+onset%5Bti%5D+sensory+motor+Neurodegenerative+Diseases G60.0 85162 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 FOSMN syndrome FOSMN-Syndrom Sindrome FOSMN Syndrome FOSMN Síndrome FOSMN Facial onset sensory and motor neuronopathy Neuronopathie motrice et sensorielle à début facial Neuronopatia sensitiva e motora de início na face Neuropathie, fazial beginnende, sensorische und motorische Neuropatia sensitivo-motoria a esordio facciale Neuropatía sensorial y motora de inicio facial hrdo:pat_id_11630 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 610532 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=hyccin+(Demyelinating+Diseases+OR+hypomyelination)+cataract G37.8 85163 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hipomielinización - catarata congénita Hipomielinização - catarata congénita Hypomyelination - congenital cataract Hypomyelinisierung - kongenitale Katarakt Hypomyélinisation - cataracte congénitale Ipomielinizzazione - cataratta congenita hrdo:pat_id_11631 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 610474 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(overgrowth+OR+tall+stature%5Btw%5D)+(deafness+OR+hearing+loss)+(camptodact*+OR+fgfr3)+OR+CATSHL Q87.2 85164 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CATSHL syndrome CATSHL-Syndrom Sindrome CATSHL Syndrome CATSHL Síndrome CATSHL Camptodactilia - estatura alta - escoliose - surdez Camptodactilia - talla alta - escoliosis - pérdida de audición Camptodactylie - petite taille - scoliose - déficience auditive Camptodactyly - tall stature - scoliosis - hearing loss Camptodattilia - bassa statura - scoliosi - perdita dell'udito Kamptodaktylie - Hochwuchs - Skoliose - Hörverlust hrdo:pat_id_11632 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 187600 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(achondroplasia%5Bti%5D+OR+achondroplasia%5Bmh%5D)+acanthosis+nigricans+OR+SADDAN%5Btw%5D Q77.4 85165 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cirrosi associata a cardiopatia SADDAN SADDAN SADDAN SADDAN SADDAN-Dysplasie Zirrhose mit assoziierter kardialer Dysfunktion Achondroplasie sévère - retard de développement - acanthosis nigricans Achondroplasie, schwere - Entwicklungsverzögerung - Acanthosis nigricans Acondroplasia grave - atraso do desenvolvimento - acantose nigricans Acondroplasia grave - retraso del desarrollo - acantosis nigricans Acondroplasia grave - ritardo dello sviluppo - acanthosis nigricans Severe achondroplasia - developmental delay - acanthosis nigricans hrdo:pat_id_11633 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 151210 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Torrance%5Btw%5D+Platyspondylic+dysplasia Q77.8 85166 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Displasia platispondilica, tipo Torrance-Luton Displasia platispondílica de tipo Torrance-Luton Displasia platispondílica esquelética letal, de tipo Torrance Displasia scheletrica platispondilica letale, tipo Torrance Dysplasie platyspondylique type Torrance-Luton PLSD-T PLSD-T PLSD-T PLSD-T PLSD-T Platyspondylic dysplasia, Torrance-Luton type Platyspondylic lethal skeletal dysplasia, Torrance type Platyspondylitische Dysplasie Typ Torrance-Luton Platyspondylitische Skelettdysplasie, letale, Typ Torrance Displasia platispondilica, tipo Torrance Displasia platispondílica de tipo Torrance Displasia platispondílica tipo Torrance-Luton Dysplasie platyspondylique type Torrance Dysplasie, platyspondylitische, Typ Torrance Platyspondylic dysplasia, Torrance type hrdo:pat_id_11634 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis 608940 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Retinitis+Pigmentosa+OR+cone+rod%5Btw%5D)+(Spondylometaphys*%5Btw%5D+OR+Spondylo+metaphys*%5Btw%5D) H35.5 Q77.8 85167 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dysplasie spondylo-métaphysaire - dystrophie cone-rod SMD-CRD SMD-CRD SMD-CRD SMD-CRD SMD-CRD Displasia espondilometafisaria - distrofia de conos-bastones Displasia espondilometafisária - distrofia de cones e bastonetes Displasia spondilometafisaria - distrofia dei coni e dei bastoncelli Dysplasie spondylo-métaphysaire - dystrophie des cônes et des batonnets Dysplasie, spondylometaphysäre - Zapfen-Stäbchendystrophie Spondylometaphyseal dysplasia - cone-rod dystrophy hrdo:pat_id_11635 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=conodysplasia Q87.5 85168 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Conodisplasia craniofacial Conodisplasia cráneofacial Conodysplasie craniofaciale Craniofacial conodysplasia Displasia craniofacciale - epifisi a cono Kraniofaziale Konodysplasie hrdo:pat_id_11636 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 606835 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28arthritis+phalange*+OR+Digital+arthropathy%29+brachydactyl* M06.8 85169 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Arthropathie digitale - brachydactylie familiale Arthropathie, digitale - Brachydaktylie, familiäre Form Artropatia digital - braquidactilia, familiar Artropatia digitale - brachidattilia familiare Artropatía digital -braquidactilia, familiar Familial digital arthropathy-brachydactyly hrdo:pat_id_11637 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 605274 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Mesomelic+dysplasia+%28fibular+aplasia*%5Btw%5D+OR+absent+fibula*%5Btw%5D%29+triangular+tibia*%5Btw%5D Q78.8 85170 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Displasia mesomelica con peroni assenti e tibie triangolari Dysplasie mésomélique avec absence de fibula et tibias triangulaires Mesomele Dysplasie mit dreiwinkligem Schienbein und fehlendem Wadenbein Mesomelic dysplasia with absent fibulas and triangular tibias Tibia a triangolo - aplasia della fibula Tibia triangulaire - aplasie fibulaire Triangular tibia - fibular aplasia Trianguläre Tibia - Fibula-Aplasie Displasia mesomelica, tipo Savarirayan Displasia mesomélica tipo Savarirayan Displasia mesomélica tipo Savarirayan Dysplasie mésomélique type Savarirayan Dysplasie, mesomele, Typ Savarirayan Mesomelic dysplasia, Savarirayan type hrdo:pat_id_11639 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Microcephalic+osteodysplas*+Saul+OR+%28Saul%5B1au%5D+Wilson%29 Q78.8 85172 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia microcefálica osteodisplásica de tipo Saul Wilson Displasia osteodisplastica microcefalica, tipo Saul-Wilson Displasia osteodisplásica microcefálica tipo Saul-Wilson Dysplasie ostéodysplasique microcéphalique type Saul-Wilson Dysplasie, mikrozephale osteodysplastische, Typ Saul-Wilson Microcephalic osteodysplastic dysplasia, Saul-Wilson type hrdo:pat_id_11640 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614732 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=IMAGE+syndrome%5Btw%5D+OR+%28image%5Bti%5D+%28adrenal+hypoplasia%5Btw%5D+OR+Adrenal+Insufficiency%5Bmh%3Anoexp%5D%29%29 Q87.1 85173 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Intrauterine Wachstumsretardierung - metaphysäre Dysplasie - kongenitale Nebennierenhypoplasie - Genitalanomalien Intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies Retard de croissance intra-utérin - dysplasie métaphysaire - hypoplasie congénitale des surrénales - anomalies génitales Ritardo della crescita intrauterino - displasia metafisaria - ipoplasia congenita dei surreni - anomalie dei genitali IMAGE-Syndrom IMAGe syndrome Sindrome IMAGe Syndrome IMAGe Síndrome IMAGe Síndrome IMAGe hrdo:pat_id_11641 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 264180 C535826 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=pseudodiastrophic+OR+%28diastrophic%5Btw%5D+%28elbow%5Btw%5D+OR+interphalangeal%5Btw%5D%29+dislocations%5Btw%5D%29 Q78.8 85174 254058002 C0432206 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia pseudodiastrofica Displasia pseudodiastrófica Displasia pseudodiastrófica Dysplasie pseudodiastrophique Dysplasie, pseudodiastrophische Pseudodiastrophic dysplasia hrdo:pat_id_11642 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Astley-Kendall+dysplasia+OR+%28Astley%5B1au%5D+Kendall%29 Q77.3 85175 389263004 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Astley-Kendall dysplasia Astley-Kendall-Dysplasie Displasia de Astley-Kendall Displasia de Astley-Kendall Displasia, tipo Astley-Kendall Dysplasie type Astley-Kendall hrdo:pat_id_11644 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 600329 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Osteopetrosis%5Bti%5D+OR+Osteopetrosis%5Bmajr%5D%29+%28neuroaxonal+OR+nerve+degeneration%5Bmh%5D%29 Q78.2 85179 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Infantile osteopetrosis with neuroaxonal dysplasia Osteopetrose com displasia neuroaxonal, forma infantil Osteopetrose mit neuroaxonaler Dysplasie, infantile Form Osteopetrosi con displasia neuroassonale, forma infantile Osteopetrosis con displasia neuroaxonal, forma infantil Ostéopétrose infantile avec dysplasie neuroaxonale hrdo:pat_id_11645 112250 C536169 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28bone+dysplasia[tw]+OR+diaphyseal+medullary+stenosis[tw]%29+%28malignant+fibrous+histiocytoma[tw]+OR+medullary+fibrosarcoma[tw]%29 M89.8 85182 389216001 C1300202 C1862177 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Bone dysplasia - medullary fibrosarcoma Diaphyseal medullary stenosis - malignant fibrous histiocytoma Diaphysäre medulläre Stenose - malignes fibröses Histiozytom Displasia ossea - fibrosarcoma midollare Displasia ósea - fibrosarcoma medular Dysplasie osseuse - fibrosarcome médullaire Estenosis medular diafisaria - histocitoma fibroso maligno Hardcastle syndrome Knochendysplasie - medulläres Fibrosarkom Stenosi del canale midollare diafisario - istiocitoma fibroso maligno Sténose médullaire diaphysaire - histocytome fibreux Syndrome de Hardcastle Diaphyseal medullary stenosis - bone malignancy Diaphysäre medulläre Stenose - maligne Knochentumore Estenose medular diafisária - neoplasia óssea Estenosis medular diafisaria - malignopatía ósea Stenosi del canale midollare diafisario - tumore osseo Sténose médullaire diaphysaire - tumeur osseuse hrdo:pat_id_11646 615118 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28bone+dysplasia[tw]+OR+diaphyseal+medullary+stenosis[tw]%29+%28malignant+fibrous+histiocytoma[tw]+OR+medullary+fibrosarcoma[tw]%29 Q78.8 85184 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Craniometadiaphyseal dysplasia, wormian bone type Displasia craniometadiafisária, tipo ossos wormianos Displasia craniometafisaria, tipo con ossa wormiane Displasia cráneometadiafisaria, huesos wormianos Dysplasie cranio-métadiaphysaire type os wormien Dysplasie, kraniometadiaphysäre, Typ ''Wormian Bones'' hrdo:pat_id_11647 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 213002 C535353 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28cerebellum/ab+OR+Cerebellar+hypoplasia%5Btw%5D%29+%28endosteum+OR+endosteal+OR+osteosclerosis%5Bmajr%5D%29 Q87.8 85186 C1859301 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Endosteal sclerosis - cerebellar hypoplasia Endosteale Sklerose - zerebelläre Hypoplasie Esclerose endosteal - hipoplasia cerebelosa Esclerosis endosteal - Hipoplasia cerebelar Sclerosi endostale - ipoplasia cerebellare Sclérose endostéale - hypoplasie cérébelleuse hrdo:pat_id_11648 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 605946 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Metaphyseal+dysplasia+%28Braun-Tinschert+OR+braun%5B1au%5D%29 Q78.5 85188 malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Displasia metafisaria tipo Braun-Tinschert Displasia metafisaria, tipo Braun-Tinschert Displasia metafisária tipo Braun-Tinschert Dysplasie métaphysaire type Braun-Tinschert Dysplasie, metaphysäre, Typ Braun-Tinschert Metaphyseal dysplasia, Braun-Tinschert type hrdo:pat_id_11649 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis 182250 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Singleton-Merten+OR+%28Singleton%5B1au%5D+merten%29 85191 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome di Singleton-Merten Singleton-Merten syndrome Singleton-Merten-Syndrom Syndrome de Singleton-Merten Síndrome de Singleton-Merten Displasia de Singleton-Merten Displasia de Singleton-Merten Displasia di Singleton-Merten Dysplasie de Singleton-Merten Singleton-Merten dysplasia Singleton-Merten-Dysplasie hrdo:pat_id_11650 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 126550 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=doughnut%5Bti%5D+%28SKULL+OR+calvaria*+OR+cranial+vault%29 M85.8 85192 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ''Doughnut''-Läsionen des Schädels, familiäre Form Familial doughnut lesions of skull Lesiones ''Donut'' del cráneo - fragilidad de los huesos Lesioni ad anello del cranio, forma familiare Lésions familiales en anneau du crâne ''Doughnut''-förmige Läsionen der Schädelkalotte - Knochenfragilität Calvarial doughnut lesions - bone fragility Lesiones ''Donut'' de la calvaria - fragilidad ósea Lesioni ad anello del cuoio capelluto - fragilità ossea Lesões do calvário em forma de donut - fragilidade óssea Lésions en anneau de la voûte cranienne - fragilité osseuse hrdo:pat_id_11651 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 259750 615221 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Osteoporo*%5Bti%5D+%28juvenile%5Bti%5D+OR+childhood%5Bti%5D+OR+children%5Bti%5D+OR+adolescen*%5Bti%5D%29+NOT+Osteoporosis/ci M81.5 85193 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown IJO IJO IJO IJO Juvenile osteoporosis OIJ OJI Osteoporose, juvenile Osteoporosi giovanile Osteoporosis juvenil Ostéoporose juvénile Idiopathic juvenile osteoporosis Osteoporose juvenil Osteoporose, idiopathische juvenile Osteoporosi giovanile idiopatica Osteoporosis juvenil idiopática Ostéoporose idiopathique juvénile hrdo:pat_id_11652 605822 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Spondylo+ocular%5Btw%5D+OR+%28retinal+detachment%5Btw%5D+cataract+osteoporo*+platyspondyl*%29 Q87.5 85194 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Espondilo-ocular, síndrome Sindrome spondilo-oculare Spondylo-oculaire syndrome Spondylo-ocular syndrome Spondylo-okuläres Syndrom Síndrome espondilo-ocular hrdo:pat_id_11653 174810 C536335 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Expansile+osteolysis%5Btw%5D+(metabolic+bone+disorders+OR+osteolysis+%5Bmh%5D) M89.5 85195 254153009 C0432292 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Displasia poliostotica osteolitica espansiva ereditaria Displasia poliostótica osteolítica expansiva hereditaria Dysplasie polyostotique ostéolytique expansive héréditaire Enfermedad de McCabe Hereditary expansile polyostotic osteolytic dysplasia Maladie de McCabe Malattia di McCabe McCabe's disease McCabe's-Krankheit Osteolyse, expansile polyostotische, hereditäre Form Familial expansile osteolysis Osteolisi espansiva, forma familiare Osteolisis expansiva, forma familiar Osteolyse, expansile familiäre Osteólise expansiva, forma familiar Ostéolyse expansive familiale hrdo:pat_id_11654 259600 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Nodulosis+arthropathy+osteolysis M89.5 85196 malformation syndrome Multicentric osteolysis - nodulosis - arthropathy NAO syndrome Osteolisi multicentrica - nodulosi - artropatia Ostéolyse multicentrique - nodules - arthropathie Sindrome NAO Syndrome NAO Síndrome NAO Nodulose - arthropathie - ostéolyse Nodulose-Arthropathie-Osteolyse-Syndrom Nodulosis-arthropathy-osteolysis syndrome Sindrome nodulosi - artropatia - osteolisi Síndrome de nodulosis - artropatía - osteolisis Síndrome nodulose - artropatia - osteólise hrdo:pat_id_11655 137360 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Genochondromatosis 85197 389264005 C1300229 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Genochondromatose Genochondromatosis Genocondromatose Genocondromatosi Genocondromatosis Génochondromatose hrdo:pat_id_11656 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Dysspondyloenchondromatosis+OR+(spine%2Fab+(Spondyloenchondrodysplas*+OR+enchondromatosis)+(dwarfism+OR+%22short+stature%22)) 85198 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Diespondiloencondromatosis Disespondiloencondromatose Dysspondyloenchondromatose Dysspondyloenchondromatose Dysspondyloenchondromatosis Spondilo-encondromatosi hrdo:pat_id_11657 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 603116 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=craniosynostosis+(Anal+Canal%2Fab+OR+anal+anomalies)+(Skin+Diseases,+genetic+OR+porokeratosis) Q87.8 85199 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CAP syndrome CAP-Syndrom CDAGS syndrome CDAGS-Syndrom Sindrome CAP Sindrome CDAGS Syndrome CAP Syndrome CDAGS Síndrome CAP Síndrome CDAGS Craneosinostosis - anomalías anales - poroqueratosis Craniosinostosi - anomalie anali - porocheratosi Craniossinostose - anomalia anal - poroqueratose Craniosynostose - anomalies anales - porokératose Craniosynostosis - anal anomalies - porokeratosis Kraniosynostose - anale Anomalien - Oorokeratose hrdo:pat_id_11658 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Ischio%5Bti%5D+(vertebral%5Bti%5D+OR+spinal%5Bti%5D+OR+spondyl*%5Bti%5D) 85200 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Disostosi ischiospinale Displasia ischiovertebrale Dysostose ischio-spinale Dysostose, ischio-spinale Dysplase, ischio-vertebrale Dysplasie ischio-vertébrale Ischio-spinal dysostosis Ischio-vertebral dysplasia Ischio-vertebral syndrome Ischio-vertebrales Syndrom Sindrome ischiovertebrale Syndrome ischio-vertébral Síndrome isquio-vertebral Síndrome isquiovertebral hrdo:pat_id_11659 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 606170 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Genitopatellar+syndrome+OR+((patella%2Fab+OR+absent+patella*)+(urogenital+abnormalities+OR+renal+anomalies)+mental+retardation) Q87.8 85201 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Absent patellae - scrotal hypoplasia - renal anomalies - facial dysmorphism - intellectual deficit Patellaaplasie - skrotale Hypoplasie - Nierenanomalien - Faziale Dysmorphien - geistige Retardierung Rotule absente - hypoplasie scrotale - anomalies rénales - dysmorphie faciale - déficit intellectuel Rotule assenti - ipoplasia scrotale - anomalie renali - dismorfismi facciali - ritardo mentale Genito-patellares Syndrom Genitopatellar syndrome Sindrome genitorotulea Syndrome génito-patellaire Síndrome genitorrotuliano síndrome genitopatelar hrdo:pat_id_11660 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 245150 C536167 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=%22keutel+syndrome%22+OR+(Keutel%5Bau%5D+cartilage*%5Bti%5D) Q87.8 85202 C1855607 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Pulmonalstenose - Brachytelephalangie - Knorpel-Kalzifikationen Pulmonic stenosis - brachytelephalangism - calcification of cartilages Stenosi polmonare - brachitelefalangismo - calcificazione delle cartilagini Sténose pulmonaire - brachytéléphalangie - calcification du cartilage Keutel syndrome Keutel-Syndrom Sindrome di Keutel Syndrome de Keutel Síndrome de Keutel Síndrome de Keutel hrdo:pat_id_11661 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 605967 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=acropectorovertebral+OR+acropectoral+OR+(syndactyly+polydactyly+sternum) Q74.0 85203 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ACRP syndrome ACRP-Syndrom Sindattilia - polidattilia preassiale - deformazione dello sterno Sindrome ACRP Syndactyly - preaxial polydactyly - sternal deformity Syndaktylie - präaxiale Polydaktylie - Sternumdeformität Syndrome ACRP Síndrome ACRP syndactylie - polydactylie préaxiale - déformation sternale Acro-pectoral syndrome Akro-pektorales Syndrom Sindrome acropettorale Syndrome acro-pectoral Síndrome acro-pectoral Síndrome acro-peitoral hrdo:pat_id_11662 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 608013 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(infant+ichthyosis+OR+Perinatal+lethal)+Gaucher+disease E75.2 85212 clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Enfermedad de Gaucher perinatal letal Gaucher-Krankheit, fötale Gaucher-Krankheit, perinatal-letale Form Malattia di Guacher perinatale letale Perinatal lethal Gaucher disease Doença de Gaucher perinatal letal Fetal Gaucher disease Forma fetal de la enfermedad de Gaucher Gaucher-Krankheit, fetale Maladie de Gaucher périnatale létale Malattia di Gaucher fetale hrdo:pat_id_11663 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 300262 C535556 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Xq12*%5Btw%5D+OR+Xq13*%5Btw%5D+OR+ABIDI%5B1au%5D+variable%5Bti%5D)+X-linked+mental+retardation 85273 C1846056 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso mental ligado ao X tipo Abidi Déficit intelectual ligado al X, de tipo Abidi Déficit intellectuel lié à l'X type Abidi Geistige Retardierung, X-chromosomale, Typ Abidi Intellectual deficit, X-linked, Abidi type Ritardo mentale legato all'X, tipo Abidi hrdo:pat_id_11664 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis 300218 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Xp11*%5Btw%5D+obesity)+X-linked+(mental+retardation%5Bmh%5D)+OR+MRXS7 85274 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Déficit intelectual ligado al X, tipo Ahmad Déficit intellectuel lié à l'X type Ahmad Geistige Retardierung, X-chromosomale, Typ Ahmad MRXS7 MRXS7 MRXS7 MRXS7 Ritardo mentale legato all'X, tipo Ahmad X-linked intellectual deficit, Ahmad type Atraso mental sindrómico ligado ao X tipo 7 Déficit intelectual ligado al X sindrómico, tipo 7 Déficit intellectuel lié à l'X syndromique type 7 Geistige Retardierung, X-chromosomale, syndromale Typ 7 Ritardo mentale sindromico legato all'X, tipo 7 Syndromic X-linked intellectual deficit 7 hrdo:pat_id_11665 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 301590 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(anophthalm*%5Bti%5D+OR+anophthalmos%5Bmh%5D)+(X+linked%5Bti%5D+OR+ANOP1+OR+Xq27) Q11.2 85275 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown MCOPS4 MCOPS4 MCOPS4 MCOPS4 Microftalmia sindromica, tipo 4 Microftalmia sindrómica tipo 4 Microphtalmie syndromique type 4 Mikrophthalmie, syndromale, Typ 4 Syndromic microphthalmia type 4 Microftalmia - anchiloblefaron - ritardo mentale Microftalmia - anquiloblefaron - atraso mental Microftalmia - anquilobléfaron - déficit intelectual Microphtalmie - ankyloblépharon - déficit intellectuel Microphthalmia - ankyloblepharon - intellectual deficit Mikrophthalmie - Ankyloblepharon - geistige Retardierung hrdo:pat_id_11666 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300261 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=X-linked+mental+retardation+seizures+Hand+Deformities 85276 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Armfield syndrome Armfield-Syndrom Sindrome di Armfield Syndrome d'Armfield Atraso mental ligado ao X tipo Armfield Déficit intelectual ligado al X, de tipo Armfield Déficit intellectuel lié à l'X type Armfield Geistige Retardierung, X-chromosomale, Typ Armfield Intellectual deficit, X-linked, Armfield type Ritardo mentale legato all'X, tipo Armfield hrdo:pat_id_11667 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Cantagrel%5Bau%5D+X+linked%5Bti%5D 85277 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso mental ligado ao X tipo Cantagrel Déficit intelectual ligado al X, de tipo Cantagrel Déficit intellectuel lié à l'X type Cantagrel Geistige Retardierung, X-chromosomale, Typ Cantagrel Intellectual deficit, X-linked, Cantagrel type Ritardo mentale legato all'X, tipo Cantagrel hrdo:pat_id_11668 Adulte jeune Adultos jóvenes Giovani adulti Jovem adulto Junge Erwachsene Young adult Young adult Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300243 C537450 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=X+linked%5Bti%5D+mental+retardation+(Craniofacial+Abnormalities%5Bmh%5D+OR+Craniofacial%5Bti%5D)+epilepsy+cerebell* 85278 C1846130 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Christianson-Syndrom Déficit intelectual ligado al X - dismorfía cráneofacial - epilepsia - oftalmoplejía - atrofia cerebelar Déficit intellectuel lié à l'X - anomalies craniofaciales - épilepsie - ophtalmoplégie - atrophie cérébelleuse Déficit intellectuel lié à l'X type Afrique du Sud Geistige Retardierung, X-chromosomale - kraniofaziale Dysmorphien - Epilepsie - Ophthalmoplegie - zerebelläre Atrophie Ritardo mentale legato all'X - dismorfismi craniofacciali - epilessia - oftalmoplegia - atrofia cerebrale Sindrome di Christianson X-linked Angelman-like syndrome X-linked intellectual deficit - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy X-linked intellectual deficit, South African type Atraso mental ligado ao X tipo sulafricano Christianson syndrome Déficit intelectual ligado al X, de tipo sudafricano Geistige Retardierung, X-chromosomale, südafrikanischer Typ Ritardo mentale legato all'X, tipo Sudafricano Syndrome de Christianson hrdo:pat_id_11669 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 300534 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(JARID1C+mental+retardation)+OR+(X+linked%5Bti%5D+complicated+spastic+paraplegia%5Bti%5D)+NOT+MASA 85279 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso mental sindrómico ligado ao X por mutação no gene JARID1C Déficit intelectual ligado al X sindrómico, debido a la mutación en JARID1C Déficit intellectuel lié à l'X syndromique lié à une mutation de JARID1C Geistige Retardierung, X-chromosomale, syndromale, mit JARID1C-Genmutationen Ritardo mentale sindromico legato all'X da mutazioni di JARID1C Syndromic X-linked intellectual deficit due to JARID1C mutation hrdo:pat_id_11670 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300471 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Mental+retardation+X-linked+%22cubitus+valgus%22 85280 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso mental ligado ao X - cúbito valgo - dismorfias Déficit intelectual ligado al X - cubitus valgus - rostro típico Déficit intellectuel lié à l'X - cubitus valgus - dysmorphie Geistige Retardierung, X-chromosomale - Cubitus valgus - charakteristische Gesichtszüge Intellectual deficit, X-linked - cubitus valgus - dysmorphism Ritardo mentale legato all'X - cubito valgo - facies caratteristica hrdo:pat_id_11671 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300260 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=X-linked+mental+retardation+(MECP2%5Bti%5D+OR+(hypertelorism%5Bti%5D+Xq28%5Bti%5D))+NOT+Rett+Syndrome%5Bmh%5D 85281 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Déficit intellectuel lié à l'X - hypotonie - infections récurrentes Geistige Retardierung, X-chromosomale - Hypotonie - rekurrente Infektionen Lubs-Arena Syndrome Lubs-Arena-Syndrom Ritardo mentale legato all'X - ipotonia - infezioni ricorrenti Sindrome di Lubs-Arena Syndrome de Lubs-Arena X-linked intellectual deficit - hypotonia - recurrent Infections Atraso mental ligado ao X tipo Lubs Déficit intelectual ligado al X de tipo Lubs Déficit intellectuel lié à l'X type Lubs Geistige Retardierung, X-chromosomale, Typ Lubs Intellectual deficit, X-linked, Lubs type Ritardo mentale legato all'X, tipo Lubs hrdo:pat_id_11672 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300148 C537451 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=%22MEHMO%22+OR+(Mental+retardation+%22X+linked%22+Brain%2Fab+Obesity+Hypogonadism) 85282 C2931496 Herencia mitocondrial Hérédité mitochondriale Ligado ao X recessivo Mitochondrial inheritance Mitochondrial inheritance Mitochondriale Vererbung Modo de hereditariedade mitocondrial Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X Trasmissione mitocondriale X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Déficit intellectuel lié à l'X - épilepsie - hypogénitalisme - microcéphalie - obésité Geistige Retardierung, X-chromosomale - epileptische Krampfanfälle - Hypogenitalismus - Microzephalie - Adipositas Ritardo mentale legato all'X - crisi epilettiche - ipogenitalismo - microcefalia - obesità X-linked intellectual deficit - epileptic seizures - hypogenitalism - microcephaly - obesity MEHMO syndrome MEHMO-Syndrom Sindrome MEHMO Syndrome de MEHMO Síndrome MEHMO Síndrome MEHMO hrdo:pat_id_11673 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 309605 C537472 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Mental+retardation+%22X+linked%22+exotropia+fingertip+arch* 85283 C1839735 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso mental ligado ao X tipo Miles-Carpenter Déficit intelectual ligado al X, de tipo Miles-Carpenter Déficit intellectuel lié à l'X type Miles-Carpenter Geistige Retardierung, X-chromosomale, Typ Miles-Carpenter Intellectual deficit, X-linked, Miles-Carpenter type Ritardo mentale legato all'X, tipo Miles-Carpenter hrdo:pat_id_11674 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 308205 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Mental+retardation+X-linked+Reish+OR+%22BRESEK%22+OR+BRESHECK Q87.8 85284 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 BRESHECK syndrome BRESHECK-Syndrom Sindrome BRESEK Sindrome BRESHECK Syndrome BRESHECK Síndrome BRESHECK Atraso mental ligado ao X tipo Reish BRESEK syndrome BRESEK-Syndrom Sindrome BRESEK Syndrome BRESEK Síndrome BRESEK hrdo:pat_id_11675 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 312840 C536630 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=mental+retardation+growth+retardation+ophthalmoplegia+microcephaly+deafness 85285 C1839320 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso mental ligado ao X tipo Schimke Déficit intelectual ligado al X, de tipo Schimke Déficit intellectuel lié à l'X type Schimke Geistige Retardierung, X-chromosomale, Typ Schimke Intellectual deficit, X-linked, Schimke type Ritardo mentale legato all'X, tipo Schimke hrdo:pat_id_11676 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300238 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(mental+retardation+%22X+linked%22+OR+XLMR)+((prominent+lower+lip%5Btw%5D+coarse%5Btw%5D+obesity)+OR+Shashi) 85286 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Déficit intelectual ligado al X, sindrómico de tipo 11 Déficit intellectuel lié à l'X syndromique type 11 Geistige Retardierung, X-chromosomale, syndromale Typ 11 Ritardo mentale sindromico legato all'X, tipo 11 Syndromic X-linked intellectual deficit type 11 Atraso mental ligado ao X tipo Shashi Déficit intelectual ligado al X, de tipo Shashi Déficit intellectuel lié à l'X type Shashi Geistige Retardierung, X-chromosomale, Typ Shashi Intellectual deficit, X-linked, Shashi type Ritardo mentale legato all'X, tipo Shashi hrdo:pat_id_11677 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300263 C537333 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=mental+retardation+cleft+palate+AND+%28PHF8+OR+Siderius%29 85287 C1846055 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso mental ligado ao X tipo Siderius Déficit intelectual ligado al X, de tipo Siderius Déficit intellectuel lié à l'X type Siderius Geistige Retardierung, X-chromosomale, Typ Siderius Intellectual deficit, X-linked, Siderius type Ritardo mentale legato all'X, tipo Siderius hrdo:pat_id_11678 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 300434 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Stocco+dos+Santos%5Btw%5D+OR+(((%22mental+retardation%22+%22X+linked%22)+OR+XLMR)+(hip+dislocation+OR+hip+luxation)) 85288 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso mental ligado ao X tipo Stocco Dos Santos Déficit intelectual ligado al X, de tipo Stocco Dos Santos Déficit intellectuel lié à l'X type Stocco Dos Santos Geistige Retardierung, X-chromosomale, Typ Stocco Dos Santos Intellectual deficit, X-linked, Stocco Dos Santos type Ritardo mentale legato all'X, tipo Stocco Dos Santos hrdo:pat_id_11679 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300360 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=mental+retardation+short+stature+vitale 85289 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-dominant X-chromosomal-rezessiv X-linked dominant X-linked dominant X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso mental ligado ao X tipo Vitale Déficit intelectual ligado al X, de tipo Vitale Déficit intellectuel lié à l'X type Vitale Geistige Retardierung, X-chromosomale, Typ Vitale Intellectual deficit, X-linked, Vitale type Ritardo mentale legato all'X, tipo Vitale hrdo:pat_id_11680 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 309545 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Mental+retardation+%22X+linked%22+Speech+Disorders+infections 85290 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso mental ligado ao X tipo Wilson Déficit intelectual ligado al X, de tipo Wilson Déficit intellectuel lié à l'X type Wilson Geistige Retardierung, X-chromosomale, Typ Wilson Intellectual deficit, X-linked, Wilson type Ritardo mentale legato all'X, tipo Wilson hrdo:pat_id_11681 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300421 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Wittwer+syndrome%5Btw%5D+OR+%28Wittwer+x-linked+Mental+retardation%29 85291 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome di Wittwer Syndrome de Wittwer Wittwer syndrome Wittwer-Syndrom Atraso mental ligado ao X tipo Wittwer Déficit intelectual ligado al X, de tipo Wittwer Déficit intellectuel lié à l'X type Wittwer Geistige Retardierung, X-chromosomale, Typ Wittwer Intellectual deficit, X-linked, Wittwer type Ritardo mentale legato all'X, tipo Wittwer hrdo:pat_id_11682 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 301840 C537316 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Farlow+%E2%80%9CX-linked%E2%80%9D+ataxia+dementia G11.1 85292 C1844933 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Ataxia-Demenz-Syndrom, X-chromosomales SCAX4 SCAX4 SCAX4 Syndrome d'ataxie-démence lié à l'X Síndrome de demencia - ataxia ligada al X X-linked ataxia-dementia syndrome Atassia spinocerebellare legata all'X, tipo 4 Ataxia espinocerebelosa ligada al X tipo 4 Ataxia espinocerebelosa ligada ao X, tipo 4 Ataxie spinocérébelleuse liée à l'X type 4 Ataxie, spinozerebelläre X-chromosomale, Typ 4 X-linked spinocerebellar ataxia type 4 hrdo:pat_id_11683 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 300354 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=short+stature+small+testes+muscle+wasting+tremor 85293 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Déficit intelectual ligado al X, tipo Cabezas Déficit intellectuel lié à l'X type Cabezas Geistige Retardierung, X-chromosomale, Typ Cabezas Ritardo mentale legato all'X, tipo Cabezas X-linked intellectual deficit, Cabezas type Atraso mental ligado ao X tipo Cabezas Cabezas syndrome Cabezas-Syndrom Sindrome di Cabezas Syndrome de Cabezas Síndrome de Cabezas hrdo:pat_id_11684 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 300491 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=%E2%80%9Csynapsin+I%E2%80%9D+family+epilepsy 85294 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Epilepsia ligada al X - problemas de aprendizaje - trastornos del comportamiento Epilepsia ligada ao X - dificuldades de aprendizagem - alterações de comportamento Epilepsie - Lernstörungen - Verhaltensauffälligkeiten, X-chromosomal Epilepsie liée à l'X - difficulté d'apprentissage - troubles du comportement Epilessia legata all'X - difficoltà dell'apprendimento - disturbi del comportamento X-linked epilepsy - learning disabilities - behavior disorders hrdo:pat_id_11685 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 300220 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Mental+retardation+%22X+linked%22+choreoathetosis+(abnormal+behavior%5Btw%5D+OR+HSD17B10+OR+HADH2) 85295 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Déficit intellectuel lié à l'X syndromique type 10 Geistige Retardierung, X-chromosomale, syndromale, Typ 10 Ritardo mentale sindromico legato all'X, tipo 10 Syndromic X-linked intellectual deficit type 10 Atraso mental ligado ao X - coreoatetose - alterações do comportamento Déficit intelectual ligado al X - coreoatetosis - comportamiento anormal Déficit intellectuel lié à l'X - choréo-athétose - comportement anormal Geistige Retardierung, X-chromosomale - Choreoathetose - Verhaltensauffälligkeiten Intellectual deficit, X-linked - choreoathetosis - abnormal behavior Ritardo mentale legato all'X - coreoatetosi - disturbi del comportamento hrdo:pat_id_11686 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 301790 C537315 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=%22X+linked%22+(Hearing+Loss+OR+deafness)+(Esotropia*+OR+strabism*) G11.1 85297 C1844936 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Ataxie-Schwerhörigkeit-Syndrom, X-chromosomales SCAX3 SCAX3 SCAX3 Syndrome d'ataxie-surdité lié à l'X Síndrome de sordera - ataxia ligada al X X-linked ataxia-deafness syndrome Atassia spinocerebellare legata all'X, tipo 3 Ataxia espinocerebelosa ligada al X tipo 3 Ataxia espinocerebelosa ligada ao X, tipo 3 Ataxie spinocérébelleuse liée à l'X type 3 Ataxie, spinozerebelläre X-chromosomale, Typ 3 X-linked spinocerebellar ataxia type 3 hrdo:pat_id_11687 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=x-linked+mental+retardation+hypogammaglobulinaemia+neurological+deterioration 85317 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso mental ligado ao X - hipogamaglobulinemia - deterioração neurológica progressiva Déficit intelectual ligado al X - hipogammaglobulinemia - deterioro neurológico progresivo Déficit intellectuel lié à l'X - hypogammaglobulinémie - détérioration neurologique progressive Geistige Retardierung, X-chromosomale - Hypogammaglobulinämie - progressive neurologische Ausfälle Intellectual deficit, X-linked - hypogammaglobulinemia - progressive neurological deterioration Ritardo mentale legato all'X - ipogammaglobulinemia - deterioramento neurologico progressivo hrdo:pat_id_11688 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=X-linked+intellectual+handicap+precocious+puberty 85318 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso mental ligado ao X - puberdade precoce - obesidade Déficit intelectual ligado al X - pubertad precoz - obesidad Déficit intellectuel lié à l'X - puberté précoce - obésité Geistige Retardierung, X-chromosomale - vorzeitige Pubertät - Adipositas Intellectual deficit, X-linked - precocious puberty - obesity Ritardo mentale legato all'X - pubertà precoce - obesità hrdo:pat_id_11689 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=mental+retardation+epilepsy+joint+contractures+coarse 85319 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso mental ligado ao X - epilepsia - contracturas articulares progressivas - dismorfias Déficit intelectual ligado al X - epilepsia - contracturas progresivas de las articulaciones - rostro típico Déficit intellectuel lié à l'X - épilepsie - contracture progressive des articulations - dysmorphie Geistige Retardierung, X-chromosomale - Epilepsie - progressive Gelenkskontrakturen - charakteristische Gesichtszüge Intellectual deficit, X-linked - epilepsy - progressive joint contractures - dysmorphism Ritardo mentale legato all'X - epilessia - contratture articolari progressive - facies caratteristica hrdo:pat_id_11690 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=mental+retardation+macrocephaly+macro-orchidism 85320 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Johnson syndrome Johnson-Syndrom Sindrome di Johnson Syndrome de Johnson Atraso mental ligado ao X - macrocefalia - macro-orquidia Déficit intelectual ligado al X - macrocefalia - macroorquidismo Déficit intellectuel lié à l'X - macrocéphalie - macroorchidisme Geistige Retardierung, X-chromosomale - Macrozephalie - Makroorchidie Intellectual deficit, X-linked - macrocephaly - macro-orchidism Ritardo mentale legato all'X - macrocefalia - macroorchidismo hrdo:pat_id_11691 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300519 85321 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Martin-Probst syndrome Martin-Probst-Syndrom Sindrome di Martin-Probst Sindrome sordità-deficit cognitivo legata all'X Syndrom der X-chromosomalen Schwerhörigkeit mit Intelligenzminderung Syndrome de Martin-Probst Syndrome de surdité - déficit intellectuel lié à l'X Síndrome de Martin-Probst Síndrome de sordera - déficit intelectual, ligado al X X-linked deafness - intellectual deficit syndrome Deafness - intellectual deficit, Martin-Probst type Schwerhörigkeit-geistige Retardierung, Typ Martin-Probst Sordera - déficit intelectual, tipo Martin-Probst Sordità - deficit cognitivo, tipo Martin-Probst Surdez-atraso mental, tipo Martin-Probst Surdité - déficit intellectuel type Martin-Probst hrdo:pat_id_11692 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Pai%5BAll+Fields%5D+AND+hane%5BAll+Fields%5D 85322 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso mental ligado ao X tipo Pai Déficit intelectual ligado al X, de tipo Pai Déficit intellectuel lié à l'X type Pai Geistige Retardierung, X-chromosomale, Typ Pai Intellectual deficit, X-linked, Pai type Ritardo mentale legato all'X, tipo Pai hrdo:pat_id_11693 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=microcephaly+hypogenitalism+mental+Seemanova 85323 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso mental ligado ao X tipo Seemanova Déficit intelectual ligado al X, de tipo Seemanova Déficit intellectuel lié à l'X type Seemanova Geistige Retardierung, X-chromosomale, Typ Seemanova Intellectual deficit, X-linked, Seemanova type Ritardo mentale legato all'X, tipo Seemanova hrdo:pat_id_11694 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300709 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=MRXS9%5BAll+Fields%5D 85324 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 MRXS9 MRXS9 MRXS9 MRXS9 Atraso mental ligado ao X tipo Shrimpton Déficit intelectual ligado al X, de tipo Shrimpton Déficit intellectuel lié à l'X type Shrimpton Geistige Retardierung, X-chromosomale, Typ Shrimpton Intellectual deficit, X-linked, Shrimpton type Ritardo mentale legato all'X, tipo Shrimpton hrdo:pat_id_11695 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=mental+retardation+dermatoglyphics+fingerprints+hypotonia+stevenson 85325 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso mental ligado ao X tipo Stevenson Déficit intelectual ligado al X, de tipo Stevenson Déficit intellectuel lié à l'X type Stevenson Geistige Retardierung, X-chromosomale, Typ Stevenson Intellectual deficit, X-linked, Stevenson type Ritardo mentale legato all'X, tipo Stevenson hrdo:pat_id_11696 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=mental+retardation+short+stature+hypertelorism+Stoll 85326 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso mental ligado ao X tipo Stoll Déficit intelectual ligado al X, de tipo Stoll Déficit intellectuel lié à l'X type Stoll Geistige Retardierung, X-chromosomale, Typ Stoll Ritardo mentale legato all'X, tipo Stoll X-linked intellectual deficit, Stoll type hrdo:pat_id_11697 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=acromegaly+hyperactivity+mental+retardation 85327 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso mental ligado ao X - acromegalia - hiperatividade Déficit intelectual ligado al X - acromegalia - hiperactividad Déficit intellectuel lié à l'X - acromégalie - hyperactivité Geistige Retardierung, X-chromosomale - Akromegalie - Hyperaktivität Intellectual deficit, X-linked - acromegaly - hyperactivity Ritardo mentale legato all'X - acromegalia - iperattività hrdo:pat_id_11698 300706 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=mental+retardation+macrocephaly+Turner+Gedeon 85328 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso mental ligado ao X tipo Turner Déficit intelectual ligado al X, de tipo Turner Déficit intellectuel lié à l'X type Turner Geistige Retardierung, X-chromosomale, Typ Turner Intellectual deficit, X-linked, Turner type Ritardo mentale legato all'X, tipo Turner hrdo:pat_id_11699 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hypotonia+mental+handicap+aggressive+behavior 85329 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso mental ligado ao X - hipotonia - dismorfia facial - comportamento agressivo Déficit intelectual ligado al X - hipotonia - dismorfismo facial - comportamiento agresivo Déficit intellectuel lié à l'X - hypotonie - dysmorphie faciale - comportement agressif Geistige Retardierung, X-chromosomale - Hypotonie - faziale Dysmorphien - aggressives Verhalten Intellectual deficit, X-linked - hypotonia - facial dysmorphism - aggressive behavior Ritardo mentale legato all'X - ipotonia - dismorfismi facciali - comportamento aggressivo hrdo:pat_id_117 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 254780 D020192 10054030 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=lafora+disease%5Bmh%5D+OR+Lafora+disease%5Bti%5D+OR+%28epilepsy%5Bti%5D+AND+progressive+myoclonic%5Bti%5D%29 G40.3 501 230425004 C0751783 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Epilepsia mioclónica progressiva tipo 2 Epilepsie myoclonique progressive type 2 Epilessia mioclonica progressiva tipo 2 Epilessia mioclonica progressiva, tipo 2 Progressive Myoklonus-Epilepsie Typ 2 Progressive myoclonic epilepsy type 2 Doença de Lafora Enfermedad de Lafora Lafora disease Lafora-Krankheit Maladie de Lafora Malattia di Lafora hrdo:pat_id_11700 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=corpus+callosum+agenesis+spastic+quadriparesis+mental+retardation 85330 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso mental ligado ao X - agenesia do corpo caloso - tetraparésia espástica Déficit intelectual ligado al X - agenesia del corpus callosum - cuadriparesia espástica Déficit intellectuel lié à l'X - agénésie du corps calleux - quadriparésie spastique Geistige Retardierung, X-chromosomale - Corpus callosum-Agenesie - spastische Tetraparese Ritardo mentale legato all'X - agenesia del corpo calloso - tetraparesi spastica X-linked intellectual deficit - corpus callosum agenesis - spastic quadriparesis hrdo:pat_id_11701 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hypogonadism+obesity+short+stature+mental+retardation+ichthyosis 85331 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso mental ligado ao X - hipogonadismo - ictiose - obesidade - baixa estatura Déficit intelectual ligado al X - hipogonadismo - ictiosis - obesidad - baja estatura Déficit intellectuel lié à l'X - hypogonadisme - ichtyose - obésité - petite taille Geistige Retardierung, X-chromosomale - Hypogonadismus - Ichthyose - Adipositas - Kleinwuchs Intellectual deficit, X-linked - hypogonadism - ichthyosis - obesity - short stature Ritardo mentale legato all'X - ipogonadismo - ittiosi - obesità - bassa statura hrdo:pat_id_11702 300578 85332 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Aldred syndrome Aldred-Syndrom Sindrome di Aldred Syndrome d'Aldred Atraso mental ligado ao X - retinopatia pigmentar Déficit intelectual ligado al X - retinosis pigmentaria Déficit intellectuel lié à l'X - rétinite pigmentaire Geistige Retardierung, X-chromosomale - Retinitis pigmentosa Intellectual deficit, X-linked - retinitis pigmentosa Ritardo mentale legato all'X - retinite pigmentosa hrdo:pat_id_11703 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=mental+retardation+paraplegia+iron 85333 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Arena syndrome Arena-Syndrom Sindrome di Arena Syndrome d'Arena Atraso mental ligado ao X - paraplegia espástica com depósitos de ferro Déficit intelectual ligado al X - paraplejia espástica con depósitos de hierro Déficit intellectuel lié à l'X - paraplégie spastique avec dépots de fer Geistige Retardierung, X-chromosomale - spastische Paraplegie mit Eisenablagerung Intellectual deficit, X-linked - Spastic paraplegia with iron deposits Ritardo mentale legato all'X - paraplegia spastica con depositi di ferro hrdo:pat_id_11704 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Neurodegenerative+x-linked+Bertini 85334 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Neurodegeneratives Syndrom, X-chromosomales, Typ Bertini Sindrome neurodegenerativa legata all'X, tipo Bertini Syndrome neurodégénératif lié à l'X type Bertini Síndrome neurodegenerativo ligado al X, tipo Bertini Síndrome neurodegenerativo ligado ao X tipo Bertini X-linked neurodegenerative syndrome, Bertini type hrdo:pat_id_11705 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300630 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Fried+Syndrome%5Btw%5D 85335 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Fried syndrome Fried-Syndrom Sindrome di Fried Syndrome de Fried Síndrome de Fried Síndrome de Fried hrdo:pat_id_11706 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Neurodegenerative+x-linked+Hamel 85336 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Neurodegeneratives Syndrom, X-chromosomales, Typ Hamel Sindrome neurodegenerativa legata all'X, tipo Hamel Syndrome neurodégénératif lié à l'X type Hamel Síndrome neurodegenerativo ligado al X, tipo Hamel Síndrome neurodegenerativo ligado ao X tipo Hamel X-linked neurodegenerative syndrome, Hamel type hrdo:pat_id_11707 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=x-linked+mental+retardation+zorick 85337 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso mental ligado ao X tipo Zorick Déficit intelectual ligado al X, de tipo Zorick Déficit intellectuel lié à l'X type Zorick Geistige Retardierung, X-chromosomale, Typ Zorick Intellectual deficit, X-linked, Zorick type Ritardo mentale legato all'X, tipo Zorick hrdo:pat_id_11708 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=ataxia+apraxia+mental+retardation+tranebjaerg 85338 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atassia - aprassia - ritardo mentale legato all'X Ataxia - apraxia - Atraso mental, ligado ao X Ataxie - Apraxie - geistige Retardierung, X-chromosomal Ataxie - apraxie - déficit intellectuel lié à l'X Déficit intelectual ligado al X - ataxia - apraxia X-linked intellectual deficit - ataxia - apraxia hrdo:pat_id_11709 Normal Normal Normal Normal Normal Normal Normale http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Polyarthritis%5Btiab%5D+arthritis+(%22rheumatoid+factor+negative%22+OR+%22RF+negative%22+OR+%22negative+rheumatoid+factor%22) M08.3 85408 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Polyarthrite facteur rhumatoïde négatif Polyarthritis without rheumatoid factor Juvenile rheumatoid factor-negative polyarthritis Poliartrite con fattore reumatoide negativo Poliartrite sem fator reumatóide Poliartritis, factor reumatoide negativo Polyarthrite juvénile sans facteur rhumatoïde Polyarthritis, Rheumafaktor-(RF)-negative hrdo:pat_id_11710 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(pauciarticular+OR+oligoarticular)+(chronic+arthritis%5Bti%5D+OR+rheumatoid+arthritis) M08.4 85410 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Arthrite chronique pauci-articulaire Arthritis, chronische pauciartikuläre Artrite pauciarticolare cronica Artritis crónica pauciarticular Oligoarthritis mit antinukleäre Faktoren Pauciarticular chronic arthritis Arthritis, oligoartikuläre, juvenile Form Artrite oligoarticolare giovanile Artrite oligoarticular juvenil Artritis juvenil oligoarticular Oligoarthrite juvénile Oligoarticular juvenile arthritis hrdo:pat_id_11711 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 604302 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(idiopathic+%22systemic+onset%22)+(arthritis%5Bti%5D+OR+rheumatoid+arthritis) M08.2 85414 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Maladie de Still Poliartrite sistemica Polyarthrite systémique Polyarthritis, systemische Still disease Systemic polyarthritis Arthrite idiopathique juvénile systémique Arthritis, idiopathische juvenile systemische Artrite idiopatica giovanile a esordio sistemico Artrite juvenil idiopática de início sistémico Artritis juvenil idiopática de inicio sistémico Systemic-onset juvenile idiopathic arthritis hrdo:pat_id_11712 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Polyarthritis%5Btiab%5D+arthritis+(%22rheumatoid+factor+positive%22+OR+%22RF+positive%22+OR+%22positive+rheumatoid+factor%22) M08.0 85435 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Polyarthrite facteur rhumatoïde positif Polyarthritis with rheumatoid factor Juvenile rheumatoid factor-positive polyarthritis Poliartrite com fator reumatóide Poliartrite positiva al fattore reumatoide Poliartritis, factor reumatoide positivo Polyarthrite juvénile avec facteur rhumatoïde Polyarthritis, Rheumafaktor-(RF)-positive hrdo:pat_id_11713 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(arthritis,+psoriatic%5Bmajr%5D+OR+Psoriatic+arthritis%5Bti%5D)+(juvenile+OR+childhood+OR+child) L40.5+ M09.0* 85436 239802003 C0409672 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Psoriasis-Arthritis, juvenile Form Arthrite psoriasique juvénile Arthritis, juvenile psoriatische Artrite psoriasica giovanile Artrite psoriática juvenil Juvenile psoriatic arthritis Reumatismo psoriásico hrdo:pat_id_11715 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=enthesitis+related%5Btw%5D+arthritis M08.1 85438 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 ERA ERA ERA Juvenile spondylarthropathy Spondiloartropatia giovanile Spondylarthropathie juvénile Spondylarthropathie, juvenile Arthrite avec enthésite Arthritis, Enthesitis-assoziierte Artrite associata a entesite Artrite relacionada com entesite Artritis relacionada con entesitis Enthesitis-related arthritis hrdo:pat_id_11716 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 262700 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Empty+Sella+Syndrome+OR+(abnormalities+OR+small+OR+empty)+sella+turcica)+(Hypopituitarism+OR+pituitary+dwarfism+OR+pituitary+gland%2Fab)+cerebellar 85442 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Baixa estatura - anomalia da pituitária e do cerebelo - sela turca pequena Bassa statura - anomalie dell'ipofisi e del cervelletto - sella turcica piccola Estatura baja - defectos en el cerebelo e hipófisis - silla turca pequeña Kleinwuchs - Hypophysen- und zerebelläre Defekte - kleine Sella turcica Petite taille - anomalies hypophysaires et cérébelleuses - selle turcique anormale Short stature - pituitary and cerebellar defects - small sella turcica hrdo:pat_id_11717 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 254500 C531616 10036673 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28amyloidosis%5Bmh%5D+OR+amyloidosis+%5Bti%5D%29+%28humans+OR+patients%29+%28light+chain%5Btw%5D+OR+primary%29 E85.8 85443 23132008 C0268381 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown AL Amyloidosis Amiloidosi AL Amiloidosi immunoglobulinica Amiloidosi sistemica primitiva Amiloidosis AL Amiloidosis inmunoglobulínica Amiloidosis sistémica primaria Amyloidose AL Amyloidose, primäre systemische Amylose AL Amylose immunoglobulinique Amylose systémique primitive Immunglobulin-Amyloidose Immunoglobulinic amyloidosis Leichtkettenamyloidose Primary systemic amyloidosis Amiloidose primária Amiloidosi primitiva Amiloidosis primaria Amyloidose, primäre Amylose primitive Primary amyloidosis hrdo:pat_id_11718 10039811 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28co%5Bsh%5D+amyloidosis/et%5Bmh%3Anoexp%5D+%29+OR+%28secondary%5Bti%5D+amyloidosis+%5Bti%5D%29 E85.3 85445 274945004 281034005 C0221014 disease Amiloidosi AA Amiloidosi infiammatoria Amiloidosi reattiva Amiloidosis AA Amiloidosis inflamatoria Amiloidosis reactiva Amyloidose AA Amyloidose, inflammatorische Amyloidose, reaktive Amyloidosis AA Amylose AA Amylose inflammatoire Amylose réactive Inflammatory amyloidosis Reactive amyloidosis Amiloidose secundária Amiloidosi secondaria Amiloidosis secundaria Amyloidose, sekundäre Amylose secondaire Secondary amyloidosis hrdo:pat_id_11719 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Amyloid*%5Bti%5D+microglobulin*+(humans+patient) E85.3 85446 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Amiloidosi beta2-microglobulinica Amiloidosis beta2-microglobulínica Amylose à bêta2-microglobuline Arthropathie liée à la dialyse Artropatia dialisi-correlata Artropatía relacionada con diálisis Beta2-microglobulinic amyloidosis Dialyse-Arthropathie Dialysis-related arthropathy Amiloidose beta2-microglobulínica Amiloidosi dialisi-correlata Amiloidosis relacionada con diálisis Amylose liée à la dialyse Beta2-Mikroglobulin-Amyloidose Dialysis-related amyloidosis hrdo:pat_id_11720 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 105210 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Amyloid+polyneuropathy+familial E85.1 85447 42295001 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Amyloidpolyneuropathie vom TTR-Typ Neuropathie amyloïde à la TTR Neuropathie amyloïde à la transthyrétine Neuropatia amiloide da TTR Neuropatia amiloide da transtiretina Neuropatía amiloide TTR Polineuropatia amiloide da transtiretina Polyneuropathie amyloïde à la transthyrétine TTR amyloid neuropathy TTR-Amyloidneuropathie Transthyretin amyloid neuropathy Transthyretin amyloid polyneuropathy Transthyretin-Amyloidose Amyloidneuropathie, familiäre Familial amyloid polyneuropathy Polineuropatia amiloide familiare Polineuropatia amiloidótica familiar Polineuropatía amiloide familiar Polyneuropathie amyloïde familiale hrdo:pat_id_11721 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 105120 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Gelsolin+OR+Finnish%5Btiab%5D)+(Amyloidosis+OR+amyloid%5Bti%5D)+(familial+OR+hereditary) E85.1 85448 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Amiloidosi da gelsolina Amiloidosi ereditaria, tipo finlandese Amiloidosis hereditaria, tipo finlandés Amiloidosis por gelsolina Amyloidpolyneuropathie, familiäre, Typ 4 Amylose finlandaise Amylose à la gelsoline Familial amyloid polyneuropathy type 4 Gelsolin amyloidosis Gelsolin-Amyloidose Hereditary amyloidosis, Finnish type Polineuropatia amiloide familiare, tipo 4 Polineuropatía amiloide familiar tipo 4 Polyneuropathie amyloïde familiale type 4 Amiloidose familiar tipo finlandês Amiloidosi familiare, tipo finlandese Amiloidosis familiar, tipo finlandés Amyloidose, familiäre, finnischer Typ Amylose familiale type finlandais Familial amyloidosis, Finnish type hrdo:pat_id_11722 Variabel Variabile Variable Variable Variable Variable Variável 105200 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(nephropathy+OR+renal%5Bti%5D)+(Amyloidosis%5Bmajr%5D+OR+Amyloidosis+%5Bti%5D+OR+amyloid%5Bti%5D)+(familial+OR+hereditary) E85.0 85450 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Amiloidosi renale ereditaria Amiloidosi, tipo Ostertag Amiloidosis renal hereditaria Amiloidosis tipo Ostertag Amyloidose Typ Ostertag Amyloidose, familiäre renale Amyloidosis, Ostertag type Amylose d'Ostertag Amylose rénale héréditaire Familial amyloid nephropathy Hereditary amyloid nephropathy Hereditary renal amyloidosis Nefropatia amiloide ereditaria Nefropatia amiloide familiare Nefropatía amiloide familiar Nefropatía amiloide hereditaria Néphropathie amyloïde familiale Néphropathie amyloïde héréditaire Amiloidosi renale familiare Amiloidosis renal familiar Amyloidnephropathie, familiäre Amylose rénale familiale Familial renal amyloidosis Nefropatia amiloidótica familiar hrdo:pat_id_11723 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 105210 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(cardiac+amyloid*%5Btiab%5D)+(familial+OR+hereditary) E85.1 85451 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ATTR cardiomyopathy ATTR-Kardiomyopathie Amiloidosi cardiaca legata alla TTR Amiloidosis cardíaca relacionada con la TTR Amyloidose, kardiale TTR-assoziierte Cardiomiopatia amiloide legata alla TTR Cardiomiopatia da ATTR Cardiomiopatía amiloide familiar relacionada con la transtiretina Cardiopathie amyloïde de la transthyrétine Cardiopathie amyloïde liée à TTR Cardiopatia amiloide da transtiretina Cardiopatía amiloide relacionada con la transtiretina Miocardiopatía ATTR Miocardiopatía amiloide relacionada con la TTR TTR-Amyloid-Kardiomyopathie TTR-Amyloidose TTR-related amyloid cardiomyopathy TTR-related cardiac amyloidosis Transthyretin amyloid cardiopathy Transthyretin-Amyloid-Kardiomyopathie Amyloid-Kardiomyopathie, familiäre Transthyretin-assoziierte Cardiomiopatia amiloide familiare legata alla transtiretina Cardiomyopathie amyloïde familiale liée à la transthyrétine Cardiopatia amiloidótica familiar Miocardiopatía amiloide familiar relacionada con la transtiretina Transthyretin-related familial amyloid cardiomyopathy hrdo:pat_id_11724 301220 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(hereditary+OR+x+linked%5Btw%5D)+reticulate+pigmentary+disorder+OR+(cutaneous+amyloid*%5Btw%5D+(Partington's%5Btw%5D+OR+Partington+M+W)) E85.0+ L99.0* 85453 disease Amiloidosi cutanea familiare Amiloidosi cutanea legata all'X Amiloidosi di Partington Amiloidosis cutánea familiar Amiloidosis cutánea ligada al X Amyloidose, kutane, X-chromosomale Amyloidose, kutane, familiäre Form Amyloïdose cutanée familiale Amyloïdose cutanée liée à l'X Enfermedad de Partington Familial cutaneous amyloidosis Maladie de Partington Malattia di Partington PDR PDR PDR PDR Partington disease Partington-Krankheit X-linked cutaneous amyloidosis XLPDR XLPDR XLPDR XLPDR XLPDR Disturbo reticolare della pigmentazione legato all'X con segni sistemici Doença de Partington Pigmentation réticulée liée au chromosome X avec manifestation systémique Trastorno pigmentario reticular ligado al X con manifestaciones sistémicas X-chromosomale retikuläre Pigmentierungsstörung mit systemischen Manifestationen X-linked reticulate pigmentary disorder with systemic manifestations hrdo:pat_id_11725 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 105150 605714 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Cerebral+hemorrhage+(amyloidosis+amyloid*%5Bti%5D)+OR+Cerebral+Amyloid+Angiopathy)+(familial+OR+hereditary) E85.4+ I68.0* 85458 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Amyloidangiopathie, zerebrale HCHWA HCHWA Emorragia cerebrale con amiloidosi, tipo ereditario Hemorragia cerebral hereditaria con amiloidosis Hemorragia cerebral hereditária com amiloidose Hereditary cerebral hemorrhage with amyloidosis Hémorragie cérébrale héréditaire avec amylose Zerebrale Hämorrhagie mit Amyloidose, hereditäre hrdo:pat_id_11726 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 608093 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Congenital+disorder+AND+glycosylation+AND+Ij%5Bti%5D%29+OR+%28congenital+disorder+AND+glycosylation+AND+type+AND+lj%29 E77.8 86309 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anomalie congénitale de la glycosylation type 2j Anomalie congénitale de la glycosylation type Ij CDG syndrome type Ij CDG-Ij CDG-Ij CDG-Ij CDG-Ij CDG1J CDG1J CDG1J CDG1J CDG1J Carbohydrate deficient glycoprotein syndrome type Ij Congenital disorder of glycosylation type 2j Congenital disorder of glycosylation type Ij Deficit di dolichil-fosfato N-acetilgalattosamina fosfotransferasi Disturbo congenito della glicosilazione, tipo 2j Disturbo congenito della glicosilazione, tipo Ij Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency Déficit de fosfotransferasa N-acetilglucosamina dolicil-fosfato Déficit en dolichyl-phosphate N-acetylgalactosamine phosphotransférase Kohlenhydrat-defizientes Glykoprotein-Syndrom Ij Kongenitaler Defekt der Glycoproteinbiosynthese Typ Ij Sindrome CDG, tipo Ij Sindrome delle glicoproteine carenti in carboidrati, tipo Ij Syndrome CDG type Ij Syndrome des glycoprotéines déficientes en hydrates de carbone type Ij Síndrome CDG tipo Ij Síndrome de glicoproteínas deficientes en carbohidratos tipo Ij Trastorno congénito de la glicosilación tipo 2j Trastorno congénito de la glicosilación tipo Ij CDG-Syndrom Typ Ij DPAGT1-CDG syndrome Sindrome DPAGT1-CDG Syndrome DPAGT1-CDG Síndrome DPAGT1-CDG Síndrome das CDG tipo Ij hrdo:pat_id_11727 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300299 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(congenital+neutropenia%5Btw%5D+OR+Neutropenia%2Fcn)+(X+linked%5Btw%5D+OR+Wiskott+Aldrich+syndrome+protein+OR+was+protein%5Bti%5D) D70 86788 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Neutropenia congenita grave legata all'X Neutropenia congénita grave ligada al X Neutropenia, congénita grave, ligada ao X Neutropenie, kongenitale schwere, X-chromosomale Neutropénie sévère congénitale liée à l'X X-linked severe congenital neutropenia hrdo:pat_id_11728 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 168860 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Patella%2Fab%5Bmajr%5D+(aplas*+OR+hypoplas*)+NOT+(nail+patella%5Btw%5D+OR+Genitopatellar) Q74.1 86789 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Aplasia/ipoplasia familiare della rotula Aplasie/hypoplasie patellaire PTLAH PTLAH PTLAH PTLAH Patellahypoplasie oder -aplasie, familiäre Aplasia-hipoplasia isolada da rótula Aplasia/hipoplasia de rótula Aplasia/ipoplasia della rotula Aplasie/hypoplasie de la rotule Patella aplasia/hypoplasia Patellahypoplasie oder -aplasie, isolierte hrdo:pat_id_11730 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(myxoedema*%5Bti%5D+OR+scleromyxedema%5Bmh%5D+OR+myxedema*%5Bti%5D+OR+papular+mucinosis%5Bti%5D)+(discrete%5Bti%5D+OR+acral%5Bti%5D) L98.5 86795 group of phenomes Mucinose papuleuse Mucinosi papulare Mucinosis papular Muzinose, papulöse Papular mucinosis Lichen mixedematoso localizzato Lichen myxoedematosus, lokalisierter Lichen myxoedémateux localisé Liquen mixedematoso localizado Localized lichen myxedematosus Líquen mixedematoso localizado hrdo:pat_id_11731 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(myxoedema*%5Bti%5D+OR+scleromyxedema%5Bmh%5D+OR+myxedema*%5Bti%5D+OR+papular+mucinosis%5Bti%5D)+atypic*%5Bti%5D L98.5 86797 disease Atypical lichen myxedematosus Lichen mixedematoso, forme atipiche Lichen myxoedematosus, atypischer Lichen myxoedémateux atypiques Liquen mixedematoso, formas atípicas Líquen mixedematoso, formas atípicas hrdo:pat_id_11732 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 609308 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(muscular+dystroph*%5Btw%5D+OR+muscular+dystrophies%5Bmh%5D)+(IIk%5Btw%5D+OR+(POMT1+((LGMD2+OR+LGMD)++mental+retardation)))+OR+LGMD2k%5Btw%5D G71.0 86812 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Distrofia muscolare dei cingoli - deficit cognitivo Distrofia muscular de cinturas y extremidades - déficit intelectual Dystrophie musculaire des ceintures - déficit intellectuel Gliedergürtelmuskeldystrophie - geistige Retardierung LGMD2K LGMD2K LGMD2K LGMD2K LGMD2K Limb-girdle muscular dystrophy - intellectual deficit Autosomal recessive limb-girdle muscular dystrophy type 2K Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2K Distrofia muscular das cinturas autossómica recessiva tipo 2K Distrofia muscular de cinturas y extremidades autosómica recesiva tipo 2K Dystrophie musculaire des ceintures autosomique récessive type 2K Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2K hrdo:pat_id_11733 108985 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(helicoid*+OR+iceland*)+peripapillar*+chorioretinal+degeneration+OR+(Sveinsson+chorioretinal+atrophy) H31.2 86813 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atrofia aerata Atrofia corioretinica di Sveinsson (SCRA) Atrofia coriorretiniana de Sveinsson Atrophia areata Atrophia areata Atrophia areata Atrophie choriorétinienne de Sveinsson Degeneration, chorioretinale, Typ Sveinsson SCRA SCRA Sveinsson chorioretinal atrophy Degeneración helicoidal peripapilar coriorretiniana Degenerazione corioretinica peripapillare elicoidale Degeneração coriorretiniana peripapilar helicoidal Dystrophie, chorioretinale helicoide peripapilläre Dégénérescence choriorétinienne péripapillaire hélicoïdale Helicoid peripapillary chorioretinal degeneration hrdo:pat_id_11734 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Variabel Variabile Variable Variable Variable Variable Variável 601068 607876 613608 615127 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=benign+adult+familial%5Btw%5D+(myoclonic+epilepsy)+OR+BAFME 86814 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown ADCME ADCME ADCME ADCME ADCME Autosomal dominant cortical myoclonus and epilepsy BAFME BAFME BAFME BAFME BAFME Epilepsia mioclónica adulta familiar Epilepsie myoclonique familiale de l'adulte Epilessia e mioclonia corticale autosomica dominante Epilessia e tremore mioclonico corticale familiare Epilessia mioclonica familiare dell'adulto FAME FAME FAME FAME FAME FCMTE FCMTE FCMTE FCMTE FCMTE Familial adult myoclonic epilepsy Familial cortical myoclonic tremor and epilepsy Kortikale Myoklonie und Epilepsie, autosomal-dominant Kortikaler myokloner Tremor und Epilepsie, familiäre Form Mioclonía cortical autosómico dominante y epilepsia Myoclonie corticale-épilepsie, autosomique dominante Myoklonusepilepsie, adulte, familiäre Form Temblor mioclónico cortical familiar y epilepsia Tremblement myoclonique cortical familial et épilepsie Benign adult familial myoclonic epilepsy Epilepsia mioclónica benigna adulta familiar Epilepsia mioclónica benigna do adulto, familiar Epilepsie myoclonique bénigne familiale de l'adulte Epilessia mioclonica familiare benigna dell'adulto Myoklonusepilepsie, adulte benigne familiäre hrdo:pat_id_11735 180920 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(agenes*+OR+aplas*+OR+absence%5Bti%5D+OR+dysplas*+OR+FGF10)+lacrimal+gland+salivary+gland Q10.4 Q38.4 86815 disease ALSG ALSG ALSG ALSG-Syndrom Absence congénitale des glandes salivaires et lacrymales Assenza congenita dei punti lacrimali e delle ghiandole salivari Congenital absence of lacrimal puncta and salivary glands Aplasia das glândulas salivares e lacrimais Aplasia de glándulas lagrimales y salivares Aplasia delle ghiandole lacrimali e salivari Aplasia of lacrimal and salivary glands Aplasie des glandes salivaires et lacrymales Tränen- und Speicheldrüsenaplasie, kongenitale hrdo:pat_id_11736 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Analbuminaemia+OR+Analbuminemia)+(congenital+OR+inherited+OR+%22albumin+gene%22) R77.0 86816 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Analbuminemia congenita Analbuminemia congénita Analbuminemia congénita Analbuminämie, kongenitale Analbuminémie congénitale Congenital analbuminemia hrdo:pat_id_11737 612631 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Hemolytic+anemia+(adenylate+kinase+deficiency) D55.3 86817 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anemia emolitica da deficit di adenilato chinasi Anemia hemolítica por deficiência de adenilato cinase Anemia hemolítica por déficit de adenilato quinasa Anämie, hämolytische durch Adenylat-Kinase-Mangel Anémie hémolytique due à un déficit en adénylate kinase Hemolytic anemia due to adenylate kinase deficiency hrdo:pat_id_11738 300194 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Alport+syndrome+(mental+retardation+OR+AMME%5Btw%5D+OR+AMMECR1%5Bti%5D+OR+ATS+MR%5Btw%5D) Q87.8 86818 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 AMME complex AMME syndrome AMME-Komplex AMME-Syndrom ATS-MR ATS-MR ATS-MR ATS-MR Complesso AMME Complexe AMME Sindrome AMME Syndrome AMME Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis Alport-Syndrom - geistige Retardierung - Mittelgesichtshypoplasie - Elliptozytose Sindrome di Alport - ritardo mentale - ipoplasia mediofacciale - ellissocitosi Syndrome d'Alport - déficit intellectuel - hypoplasie du visage - elliptocytose Síndrome de Alport - atraso mental - hipoplasia do terço médio da face - eliptocitose Síndrome de Alport - déficit intelctual - hipoplasia del tercio medio facial - eliptocitosis hrdo:pat_id_11739 209500 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Atrichia+papul* L65.8 86819 disease Atrichia papulosa Atrichie avec papules Atrichie, papulöse Atriquia papular Papular atrichia Atrichia con lesioni papulose Atrichia with papular lesions Atrichie avec lésion papulaire Atrichie mit papulösen Läsionen Atriquia com lesões papulares Atriquia con lesiones papulares hrdo:pat_id_1174 C537643 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=(Trisomy+4p%5Bti%5D+OR+duplication+4p*%5Bti%5D+OR+((%22chromosome+4%22+OR+Pair+4%5Btw%5D)+4p*%5Btw%5D+trisomy))+NOT+(mosaicism+OR+monosomy+4p*%5Bti%5D) Q92.2 1738 C2931571 malformation syndrome Duplication 4p Duplication 4p Duplicazione 4p Short arm of chromosome 4 trisomy Trisomia del braccio corto del cromosoma 4 Trisomie 4p Trisomie du bras court du chromosome 4 Trisomía 4p Trissomia 4p Duplicación 4p Duplicação 4p Duplikation 4p Trisomia 4p Trisomie 4p Trisomy 4p hrdo:pat_id_11740 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 608805 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Avascular+necrosis%5Btw%5D+femoral+head*%5Bti%5D+OR+Femur+Head+Necrosis%5Bmh%5D)+(familial%5Btw%5D+OR+inherited+OR+genetics+OR+dominant) M87 86820 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Familial osteonecrosis of the femoral head Osteonecrosi della testa femorale, forma familiare Osteonecrosis de la cabeza femoral, forma familiar Ostéonécrose familiale de la tête fémorale Avaskuläre Nekrose des Femurkopfes, familiäre Form Familial avascular necrosis of femoral head Necrose avascular da cabeça do fémur, forma familiar Necrosi avascolare della testa femorale, forma familiare Necrosis avascular de la cabeza femoral, forma familiar Nécrose avasculaire familiale de la tête fémorale hrdo:pat_id_11741 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=type+III%5Btw%5D+lissencephaly Q04.3 86821 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Lisencefalia tipo III - secuencia de aquinesia fetal familiar Lisencefalia tipo III - sequência de acinesia fetal familiar Lissencefalia tipo 3 - sequenza dell'acinesia fetale familiare Lissencephaly type 3 - familial fetal akinesia sequence Lissencéphalie type 3 - séquence d'akinésie foetale familiale Lissenzephalie Typ III - familiäre fetale Akinesie/Hypokinesie-Sequenz hrdo:pat_id_11742 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601160 Q04.3 86822 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Lisencefalia tipo III - displasia ósea metacarpiana Lisencefalia tipo III - displasia óssea dos metacarpos Lissencefalia tipo 3 - displasia delle ossa metacarpali Lissencephaly type 3 - metacarpal bone dysplasia Lissencéphalie type 3 - dysplasie métacarpienne Lissenzephalie Typ III - metakarpale Knochendysplasie hrdo:pat_id_11743 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=((cerebell*%5Bti%5D+(dysplas*%5Bti%5D+OR+aplas*%5Bti%5D+OR+hypoplas*%5Bti%5D))++OR+%22cerebellar+hypoplasia%22)+Lissencephaly Q04.3 86823 group of phenomes LCH LCH LCH LCH LHC Lisencefalia com hipoplasia do cerebelo Lisencefalia con hipoplasia cerebelosa Lissencefalia con ipoplasia cerebellare Lissencephaly with cerebellar hypoplasia Lissencéphalie avec hypoplasie cérébelleuse Lissenzephalie mit zerebellärer Hypoplasie hrdo:pat_id_11744 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D015467 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Leukemia,+Neutrophilic,+Chronic C92.1 86829 128834007 188734009 C0023481 disease Chronic neutrophilic leukemia Leucemia neutrofilica cronica Leucemia neutrofílica crónica Leucemia neutrofílica crónica Leucémie chronique à neutrophiles Leukämie, chronische neutrophile hrdo:pat_id_11745 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Chronic+myeloproliferative+disease+unclassifiable D47.1 86830 disease CMPD-U CMPD-U Enfermedad mieloproliferativa indiferenciada Maladie myéloproliférative non-différentiée Malattia mieloproliferativa indifferenziata Myeloproliferative Krankheit, undifferenzierte Nicht klassifizierbare cMPE (chronische myeloproliferative Erkrankungen) Undifferentiated myeloproliferative disease Doença mieloproliferativa crónica, não classificada Enfermedad mieloproliferativa crónica inclasificable Maladie myéloproliférative chronique non-classifiée Malattia mieloproliferativa cronica non classificabile Myeloproliferative Krankheit, nicht klassifizierbare Unclassified chronic myeloproliferative disease hrdo:pat_id_11747 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 607785 D054429 10023249 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=%22juvenile+myelomonocytic+leukemia%22+OR+%22juvenile+myelomonocytic+leukaemia%22 C93.3 86834 128832006 277587001 445227008 C0349639 disease Juvenile chronic myelomonocytic leukemia Leucemia mielomonocitica cronica giovanile Leucemia mielomonocítica crónica juvenil Leucémie myélomonocytaire chronique juvénile Leukämie, chronische juvenile myelomonozytische Juvenile myelomonocytic leukemia Leucemia mielomonocitica giovanile Leucemia mielomonocítica juvenil Leucemia mielomonocítica juvenil Leucémie myélomonocytaire juvénile Leukämie, juvenile myelomonozytische hrdo:pat_id_11748 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 10067959 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Refractory+cytopenia+multilineage+dysplasia+OR+Anemia,+Refractory%5Bmh%3Anoexp%5D+OR+(refractory+anemia%5Bti%5D+NOT+(excess+blasts)) D46.7 86836 128836009 415285009 C0796466 group of phenomes Citopenia refractaria con displasia multilineal Citopenia refrattaria con displasia multilineare Citopenia refratária com displasia multilinear Cytopénie réfractaire avec dysplasie multilignée Refractory cytopenia with multilineage dysplasia Zytopenie, refraktäre mit multilineärer Dysplasie hrdo:pat_id_11749 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D000754 10038270 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Anemia,+Refractory,+with+Excess+of+Blasts D46.2 86839 128847002 398623004 C0002894 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown RAEB Anemia refractaria con exceso de blastos Anemia refrattaria con eccesso di blasti Anemia refratária com excesso de blastos Anémie réfractaire avec excès de blastes Refractory anemia with excess blasts Refraktäre Anämie mit Blastenexzess hrdo:pat_id_1175 neant Q92.5 1739 malformation syndrome Trisomia 4q Trisomie 4q Trisomie 4q Trisomy 4q Trisomía 4q Trissomia 4q Duplicación 4q Duplication 4q Duplication 4q Duplicazione 4q Duplicação 4q Duplikation 4q hrdo:pat_id_11750 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 153550 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Myelodysplastic+syndrome+(5q+(monosomy+OR+deletion%5Bti%5D)) D46.7 86841 disease 5q- syndrome 5q-Syndrom Sindrome 5q- Syndrome 5q- Síndrome 5q- Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality Myelodysplastisches Syndrom mit isolierter del(5q) Chromosomenanomalie Sindrome mielodisplastica associata ad anomalia cromosomica isolata del (5q) Syndrome myélodysplasique associé à une anomalie chromosomique isolée del(5q) Síndrome mielodisplásico asociado a una anomalía cromosómica aislada del(5q) Síndrome mielodisplásico associado a delecção 5q isolada hrdo:pat_id_11751 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 10000879 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=%22Acute+panmyelosis%22+myelofibrosis+OR+%22acute+myelosclerosis%22 C94.5 86843 109991003 80570006 C0334674 disease Acute myelodysplasia with myelofibrosis Acute myelofibrosis Acute myelosclerosis Akute Myelodysplasie mit Myelofibrose Mielodisplasia acuta con mielofibrosi Mielodisplasia aguda con mielofibrosis Mieloesclerosis aguda Mielofibrosi acuta Mielofibrosis aguda Mielosclerosi acuta Myelofibrose, akute Myelosklerose, akute Myélodysplasie aiguë avec myélofibrose Myélofibrose aiguë Myélosclérose aiguë Acute panmyelosis with myelofibrosis Akute Panmyelose mit Myelofibrose Panmielose aguda com mielofibrose Panmielosi acuta con mielofibrosi Panmielosis aguda con mielofibrosis Panmyélose aiguë avec myélofibrose hrdo:pat_id_11752 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=multilineage%5Btiab%5D+acute+myeloid+leukaemia C92.0 86845 128827005 C1292773 disease Acute myeloid leukemia with multilineage dysplasia Akute myeloische Leukämie mit multilineärer Dysplasie Leucemia mieloide acuta con displasia multilineare Leucemia mieloide aguda con displasia multilineal Leucemia mielóide aguda com displasia multilinear Leucémie aiguë myéloïde avec dysplasie multilignée hrdo:pat_id_11753 Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(DNA+Topoisomerases,+Type+II+OR+Alkylating+Agents%2Fae)+(acute+myeloid+leukaemia%2Fci+OR+myelodysplastic+syndromes%2Fci) C92.0 86846 128830003 C1292776 group of phenomes Leucemia mieloide acuta secondaria Leucemia mieloide aguda secundaria Leucémie aiguë myéloïde secondaire Leukämie, akute myeloische, sekundäre Formen Secondary acute myeloid leukemia Leucemia mieloide acuta e sindromi mielodisplastiche terapia-dipendenti Leucemia mieloide aguda y síndrome mielodisplásico asociados al tratamiento Leucemia mielóide aguda e síndromes mielodisplásicos, relacionados com a terapia Leucémie aiguë myéloïde et syndromes myélodysplasiques thérapie-dépendants Therapy related acute myeloid leukemia and myelodysplastic syndrome Therapy related acute myeloid leukemia and myelodysplastic syndrome hrdo:pat_id_11754 D015471 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Acute+basophilic+leukaemia C94.7 86849 69077002 C0023437 disease Acute basophilic leukemia Leucemia basofila acuta Leucemia basofílica aguda Leucemia basofílica aguda Leucémie aiguë à basophiles Leukämie, akute basophile hrdo:pat_id_11755 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Variabel Variabile Variable Variable Variable Variable Variável D023981 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Myeloid+sarcoma C92.3 86850 35287006 94719007 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Chlorom Chloroma Chlorome Cloroma Cloroma Extramedullary myeloid tumor Granulocytic sarcoma Sarcoma granulocitario Sarcoma granulocítico Sarcome granulocytaire Sarkom, granulozytäres Tumeur myéloïde extramédullaire Tumor mieloide extramedular Tumor, extramedullärer myeloischer Tumore mieloide extramidollare Myeloid sarcoma Myelosarkom Sarcoma mieloide Sarcoma mieloide Sarcoma mielóide Sarcome myéloïde hrdo:pat_id_11756 Variabel Variabile Variable Variable Variable Variable Variável D015456 10067399 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Acute+leukaemia+ambiguous+lineage C95.0 86851 128818009 278453007 397345009 C0023464 C1301357 group of phenomes Acute leukemia of indeterminate lineage Hybrid acute leukemia Hybrid-Leukämie Leucemia acuta a fenotipo misto Leucemia acuta a linee miste Leucemia acuta con lineage sconosciuto Leucemia aguda de fenotipo mixto Leucemia aguda de linaje indeterminado Leucemia aguda híbrida Leucemia ibrida acuta Leucémie aiguë de lignée intermédiaire Leucémie aiguë de lignée mixte Leucémie aiguë de phénotype mixte Leucémie aiguë hybride Leukämie, akute mit gemischtem Phänotyp Mixed lineage acute leukemia Mixed phenotype acute leukemia Mixed-Lineage Leukämie, akute Acute leukemia of ambiguous lineage Leucemia acuta con lineage ambiguo Leucemia aguda de linaje mixto Leucemia aguda de linhagem ambígua Leucémie aiguë de lignée ambiguë Leukämie, akute, gemischter Linienzugehörigkeit hrdo:pat_id_11757 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D054403 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(prolymphocytic%5Bti%5D+OR+prolymphocytic+leukemia%5Bmajr%5D)+B-Cell+leukaemia C91.3 86852 128820007 277619001 C0475801 disease B-PLL B-PLL B-PLL B-PLL B-PLL B-cell prolymphocytic leukemia Leucemia prolinfocitica a cellule B Leucemia prolinfocítica de células B Leucemia prolinfocítica de células B Leucémie prolymphocytaire à cellules B Prolymphozytenleukämie vom B-Zell-Typ hrdo:pat_id_11758 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 10062113 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Splenic+marginal+zone[ti]+lymphoma C26.1 86854 disease LSZM SMZL SMZL SMZL SMZL SMZL Linfoma esplénico da zona marginal Linfoma esplénico de la zona marginal Linfoma splenico della zona marginale Lymphome splénique de la zone marginale Splenic marginal zone lymphoma Splenisches Marginalzonen-Lymphom hrdo:pat_id_11759 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D010954 10035484 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Plasmocytoma%5Bti%5D+OR+Plasmocytoma%5Bmh%5D C90.2 86855 10639003 415112005 C0032131 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Plasmacitoma solitario Plasmacytome solitaire Plasmocitoma solitario Plasmozytom, solitäres Solitary plasmacytoma Plasmacitoma Plasmacytoma Plasmocitoma Plasmocitoma Plasmocytome Plasmozytom hrdo:pat_id_11760 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Monoclonal+immunoglobulin+deposit*%5Btw%5D+OR+Heavy+Chain+Disease+OR+light+chain+disease%5Btw%5D+OR+light+chain+deposition+disease%5Btw%5D D89.8 86861 disease Enfermedad de Randall Immunoglobulin-Speicherkrankheit, monoklonale nichtamyloide MDIM non-amyloïde MIDD no amiloide MIDD non amiloide MIDD non-amyloïde MIDD, nichtamyloide Maladie de randall Malattia da depositi d'immunoglobulina monoclonale non amiloide Malattia di Randall Non-amyloid MIDD Randall disease Randall-Krankheit Doença de deposição de imunoglobulinas monoclonais Enfermedad por depósitos no amiloides de inmunoglobulinas monoclonales Maladie des dépôts d'immunoglobuline monoclonale non-amyloïde Malattia da accumulo di immunoglobulina monoclonale non amiloide Monoklonale Immunglobulin-Ablagerungskrankheit Non-amyloid monoclonal immunoglobulin deposition disease hrdo:pat_id_11761 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D006362 10019350 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Heavy+Chain+Disease*%5Btw%5D+OR+Heavy+chain+disease C88.2 C88.3 86864 6381009 68979007 C0018852 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown ECP HCD HCD HCD HCD HCD Doenças de cadeias pesadas Enfermedad de las cadenas pesadas Heavy-chain disease Maladie des chaînes lourdes Malattia delle catene pesanti Schwerketten-Krankheit hrdo:pat_id_11762 10029460 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Nodal+marginal+zone%5Btw%5D+B-cell+lymphoma+OR+nodal+MZL%5Btw%5D C85.1 86867 397349003 disease LNZM NMZL NMZL NMZL NMZL NMZL Linfoma nodal de células B da zona marginal Linfoma nodal de zona marginal de células B Linfoma nodulare a cellule B della zona marginale Lymphome nodulaire à cellules B de la zone marginale Nodal marginal zone B-cell lymphoma Nodales Marginalzonen-B-Zell-Lymphom hrdo:pat_id_11763 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D008230 10025325 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Lymphomatoid+granulomatosis%5Bti%5D+OR+Lymphomatoid+granulomatosis%5Bmh%5D C83.8 86869 239940004 C0024307 disease LYG LYG LYG LYG LYG Granulomatose linfomatóide Granulomatose lymphomatoïde Granulomatosi linfomatoide Granulomatosis linfomatoide Lymphomatoid granulomatosis Lymphomatoide Granulomatose hrdo:pat_id_11764 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Blastic+%28natural+killer+cells+OR+NK+cell%29+lymphoma+OR+hematodermic C86.4 86870 disease BPDCN Blastic NK-cell lymphoma Blastic plasmacytoid dendritic cell neoplasm Linfoma monomorfico a cellule NK Linfoma monomórfico de células NK Lymphoblastoid variant of NK-cell lymphoma Lymphome NK blastique Lymphome NK monomorphe Lymphome NK variant lymphoblastoïde Lymphome à cellules NK blastiques Monomorphic NK-cell lymphoma NK-Zell-Lymphom, lymphoblastoide Variante NK-Zell-Lymphom, monomorphisches Tumeur à cellules plasmacytoïdes dendritiques blastiques Variante linfoblastoide de linfoma de células NK Variante linfoblastoide del linfoma a cellule NK Blastisches NK-Zell-Lymphom CD4+/CD56+ hematodermic neoplasm Hématodermie CD4+/CD56+ Linfoma a cellule NK blastiche Linfoma blástico de células NK Linfoma de células NK blástico hrdo:pat_id_11765 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D015461 10042985 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=T-cell+prolymphocytic+leukaemia C91.3 86871 128821006 277567002 C2363142 disease LPL-T Leucemia linfocitica cronica a cellule T Leucemia linfocítica crónica de células T Leucémie lymphocytaire T chronique T-PLL T-PLL T-PLL T-PLL T-PLL T-Zell-Prolymphozytenleukämie T-cell chronic lymphocytic leukemia Leucemia prolinfocitica a cellule T Leucemia prolinfocítica de células T Leucemia prolinfocítica de células T Leucémie prolymphocytaire T Prolymphozytenleukämie vom T-Zell-Typ T-cell prolymphocytic leukemia hrdo:pat_id_11766 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D054066 10065862 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=large+granular+lymphocyte%5Btw%5D+T-cell+leukaemia C91.5 86872 128819001 55081009 C1955861 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Leucemia LGL de células T Leucemia a LGL T Leucemia linfocitica cronica a cellule T Leucemia linfocítica crónica de células T Leucémie à GLG T Leucémie à LGL T Proliferación de linfocitos granulares grandes Proliferation of large granular lymphocytes Proliferazione dei grandi linfociti granulari Prolifération de grands lymphocytes granuleux T-GLG T-LGL T-LGL T-LGL T-LGL T-LGL T-Zell-LGL-Leukämie T-Zell-Leukämie, chronische lymphatische T-cell LGL leukemia T-cell chronic lymphocytic leukemia Leucemia a grandi linfocitici granulari T Leucemia linfocítica granular de células T grandes Leucemia linfocítica granular grande de células T Leucémie à grands lymphocytes granuleux T T-Zell-Leukämie mit großen granulären Lymphozyten T-cell large granular lymphocyte leukemia hrdo:pat_id_11767 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 10028811 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28aggressive+NK+cell%5Btw%5D+OR+Aggressive+natural+killer%5Btw%5D%29+leukaemia C91.7 86873 128833001 C1292777 disease Aggressive NK-cell lymphoma Leucemia LGL de células NK Leucemia a LGL NK Leucemia a grandi linfociti granulari NK Leucemia linfocítica granular de células NK grandes Leucémie à GLG NK Leucémie à LGL NK Leucémie à grands lymphocytes granuleux NK Linfoma aggressivo a cellule NK Linfoma agresivo de células NK NK-Zell LGL-Leukämie NK-Zell-Lymphom, aggressives NK-cell LGL leukemia NK-cell large granular lymphocyte leukemia Aggressive NK-cell leukemia Agressive NK-Zell-Leukämie Leucemia aggressiva a cellule NK Leucemia agresiva de células NK Leucemia das células NK, agressiva Leucémie agressive à cellules NK hrdo:pat_id_11768 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D015459 10001413 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Adult+T+cell%5Btw%5D+leukaemia+lymphoma C91.5 86875 110007008 188729005 77430005 C0023493 disease ATLL ATLL ATLL ATLL ATLL Adult T-cell leukemia/lymphoma Leucemia ou linfoma das células T do adulto Leucemia/linfoma de células T del adulto Leucemia/linfoma dell'adulto a cellule T Leucémie/lymphome T de l'adulte T-Zell-Lymphom/Leukämie, adulte(s) hrdo:pat_id_11769 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D054391 10065855 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=NK+T+cell+lymphoma%5Btw%5D+nasal C84.4 86879 414166008 C0392788 disease Angiocentric T-cell lymphoma Granuloma letal de la línea media Granuloma letale della linea mediana Granulome létal de la ligne médiane Lethal midline granuloma Linfoma a cellule NK/T Linfoma angiocentrico a cellule T Linfoma angiocéntrico de células T Linfoma de células T/NK Linfoma extranodal nasal de células NK/T Linfoma nasal de células T/natural killer Linfoma nasale a cellule T/natural killer Lymphome NK/T Lymphome T angiocentrique Lymphome à cellules natural killer/T nasal Mittelliniengranulom, letales NK/T-Zell-Lymphome NK/T-cell lymphoma Nasal T/natural killer-cell lymphoma T-Zell-/Natürliche-Killer-(NK-)Zell-Lymphome, nasale T-Zell-Lymphom, angiozentrisches Extranodal nasal NK/T cell lymphoma Extranodales NK/T-Zell-Lymphom, nasaler Typ Linfoma extranodal das células NK/T, tipo nasal Linfoma extranodal nasal de células T/NK Linfoma nasale extranodale a cellule NK/T Lymphome NK/T extranodulaire type nasal hrdo:pat_id_11770 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D058527 10022703 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Intestinal+Diseases%5Bmajr%5D+T+cell+lymphoma%5Bmajr%5D)OR+(enteropathy+associated%5Btw%5D+OR+enteropathy+type%5Btw%5D)+T+cell+lymphoma C84.4 86880 103686008 277654008 C0456889 disease EATL EATL EATL ETTL ETTL ETTL Enteropathy-type T-cell lymphoma Intestinal T-cell lymphoma Linfoma de células T tipo enteroptía Linfoma intestinal de células T Linfoma intestinale a cellule T Lymphome T intestinal Lymphome T type entéropathie Enteropathy-associated T-cell lymphoma Linfoma a cellule T, tipo enteropatia Linfoma de células T asociado a una enteropatía Linfoma de células T, tipo enteropático Lymphome T associé à une entéropathie T-Zell-Lymphom vom Enteropathie-Typ hrdo:pat_id_11771 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 10066957 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=((liver+neoplasms+splenic+neoplasms)+OR+Hepatosplenic)+T+cell+lymphoma C84.4 86882 445406001 C1333984 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hepatosplenic T-cell lymphoma Linfoma epatosplenico a cellule T Linfoma hepatoesplénico de células T Linfoma hepatoesplénico de células T Lymphome T hépatosplénique T-Zell-Lymphom, hepatosplenisches hrdo:pat_id_11772 Variabel Variabile Variable Variable Variable Variable Variável C537503 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Subcutaneous+panniculitis%5Btw%5D+T+cell+lymphoma C84.4 86884 103682005 404133000 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Linfoma de células T subcutáneo paniculítico Linfoma panniculitico sottocutaneo a cellule T SPTCL SPTCL SPTCL SPTCL SPTCL Subcutaneous panniculitic T-cell lymphoma T-Zell-Lymphom, pannikulitisches subkutanes Linfoma de células T, paniculite subcutânea-like Linfoma sottocutaneo simil-panniculitico a cellule T Linfoma subcutáneo de células T, tipo paniculitis Lymphome T sous-cutané type panniculite Subcutaneous panniculitis-like T-cell lymphoma T-Zell-Lymphom, subkutanes Pannikulitis-ähnliches hrdo:pat_id_11773 D016411 10034623 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Peripheral%5Bti%5D+T+cell+lymphoma+OR+Lymphoma,+T+Cell,+Peripheral%5Bmh%5D C84.4 86885 109977009 3172003 C0079774 disease Linfoma cutaneo periferico aspecifico primitivo a cellule T Linfoma cutáneo primario de células T periféricas, sin especificar Linfoma de células T periféricas, inespecífico Lymphome cutané primitif à cellules T périphérique non-spécifique Primary cutaneous unspecified peripheral T-cell lymphoma Primär Kutanes T-Zell-Lymphom, peripheres unspezifiziertes hrdo:pat_id_11774 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 10002449 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Angioimmunoblastic+T-cell+lymphoma C84.4 86886 413537009 835009 disease AILT AILT AILT AILT AILT Immunoblastic lymphadenopathy Linfadenopatia immunoblastica Linfadenopatía inmunoblástica Linfogranulomatosi X Linfogranulomatosis X Linfoma a cellule T, tipo AILD Linfoma de células T, tipo AILD Lymphadenopathie, immunoblastische Lymphadénopathie immunoblastique Lymphogranulomatose X Lymphogranulomatose X Lymphogranulomatosis X Lymphome T type AILD T-Zell-Lymphom vom AILD-Typ T-cell lymphoma, AILD type Angioimmunoblastic T-cell lymphoma Linfoma angioimmunoblastico a cellule T Linfoma angioinmunoblástico de células T Linfoma de células T angioimunoblástico Lymphome T angioimmunoblastique T-Zell-Lymphom, angioimmunoblastisches hrdo:pat_id_11775 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Nodular+lymphocyte+predominant+Hodgkin+lymphoma C81.1 86893 118605002 277608004 70600005 C1334968 C2239290 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown LHNPL Linfoma di Poppema NLPHL NLPHL NLPHL Paragranulome nodulaire hodgkinien de Poppema et Lennert Hodgkin-Lymphom, lymphozytenreiches noduläres Linfoma de Hodgkin con predominio de linfocitos nodulares Linfoma de Hodgkin nodular com predomínio de linfócitos Linfoma nodale di Hodgkin a predominanza linfocitaria Lymphome de Hodgkin nodulaire à prédominance lymphocytaire Nodular lymphocyte predominant Hodgkin lymphoma hrdo:pat_id_11776 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D054747 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Histiocytic+sarcoma*%5Btw%5D+humans C96.1 86896 109988003 128813000 C0334663 disease Histiocytic sarcoma Sarcoma histiocítico Sarcoma histiocítico Sarcoma istiocitico Sarcome histiocytaire Sarkom, histiozytäres hrdo:pat_id_11777 Variabel Variabile Variable Variable Variable Variable Variável D054752 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28dendritic+cell+sarcoma%5Btiab%5D+Langerhans+cell*%5Btiab%5D%29+OR+Langerhans+cell+sarcoma%5Btw%5D C25.4 86897 128814006 C1260327 disease Langerhans cell sarcoma Langerhans-Zell-Sarkom Sarcoma a cellule di Langerhans Sarcoma de células de Langerhans Sarcoma de células de Langerhans Sarcome des cellules de Langerhans hrdo:pat_id_11778 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 267730 D054739 10038804 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=dendritic+cell+sarcoma%5Bti%5D+NOT+%28Langerhans+OR+follicular%29+OR+%28Interdigitating+dendritic+cell%5Btw%5D+sarcoma%29 C85.0 86900 128815007 373168002 C0024302 C1260326 disease Interdigitating cell sarcoma Reticulum cell sarcoma Sarcoma a cellule interdigitate Sarcoma a cellule reticolari Sarcoma de células interdigitantes Sarcoma de células reticulares Sarcome des cellules interdigitées Sarcome des cellules réticulaires interdigitées Sarkom, retikuläres Interdigitating dendritic cell sarcoma Sarcoma a cellule dendritiche interdigitate Sarcoma de células dendríticas interdigitante Sarcoma de células dendríticas interdigitantes Sarcome des cellules dendritiques interdigitées Sarkom der interdigitierenden dendritischen Zellen hrdo:pat_id_11779 Variabel Variabile Variable Variable Variable Variable Variável D054740 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=follicular+dendritic+cell%5Btw%5D+sarcoma C82 86902 128816008 C1260325 disease Follicular dendritic cell sarcoma Sarcoma a cellule follicolari dendritiche Sarcoma de células dendríticas foliculares Sarcoma de células foliculares dendríticas Sarcome des cellules folliculaires dendritiques Sarkom, follikuläres dendritisches hrdo:pat_id_1178 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Duplication%5Bti%5D+OR+trisomy%5Bti%5D+OR+trisomy%5Bmh%5D%29+AND+5p%5Bti%5D+NOT+partial%5Bti%5D Q92.3 1742 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Duplicación 5p Duplication 5p Duplication 5p Duplicazione 5p Duplikation 5p Short arm of chromosome 5 trisomy Trisomia del braccio corto del cromosoma 5 Trisomie du bras court du chromosome 5p Trissomia 5p Duplicação 5p Trisomia 5p Trisomie 5p Trisomie 5p Trisomy 5p Trisomía 5p hrdo:pat_id_11780 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Malignant+Histiocytic+Disorders%5Bmh%3Anoexp%5D+Dendritic+Cells%5Bmajr%5D+OR+dendritic+cell+sarcoma*%5Btw%5D)+NOT+(Langerh*+OR+follicu*+OR+Interdig*) C85.0 86903 397355008 C1301364 disease Dendritic cell sarcoma not otherwise specified Dendritisches Zell-Sarkom, andernorts nicht klassifiziert Sarcoma a cellule dendritiche non specificato in altro modo Sarcoma de células dendríticas, não especificado Sarcome des cellules dendritiques sans autre spécification Sárcoma de células dendriticas, sin especificar hrdo:pat_id_11781 neant 86904 disease Disturbi linfoproliferativi associati al metotrexato Doenças linfoproliferativas associadas ao metotrexato Désordres lymphoprolifératifs associés au méthotréxate Lymphoproliferative Krankheit, Methotrexat-assozierte Methotrexate-associated lymphoproliferative disorders Trastornos linfoproliferativos asociados al uso de metotrexato hrdo:pat_id_11782 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Gelastic+hypothalamic+hamartoma G40.5 86906 disease Crises gelásticas com hamartomas hipotalámicos Crisi gelastiche associate a amartomi ipotalamici Crisis gelasticas con hamartomas hipotalámicos Hamartomes hypothalamiques avec épilepsie gélastique Hypothalamic hamartomas with gelastic seizures Hypothalamus-Hamartom mit gelastischen Anfällen hrdo:pat_id_11783 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(hemiconvulsion%5Bti%5D+hemiplegia*%5Bti%5D+OR+hemiconvulsion+hemiplegia%5Btw%5D)+epilepsy G40.4 86908 230407006 C0549118 disease HHE syndrome HHE-Syndrom Sindrome HHE Syndrome HHE Síndrome HHE Hemiconvulsion-Hemiplegia-Epilepsy syndrome Hemikonvulsion-Hemiplegie-Epilepsie-Syndrom Hémiconvulsion - hémiplégie - épilepsie Sindrome emiconvulsione-emiplegia-epilessia Síndrome Hemiconvulsão-Hemiplegia-Epilepsia Síndrome de hemiconvulsión-hemiplejía-epilepsia hrdo:pat_id_11784 605021 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=myoclonic+epileps*%5Bti%5D+(infancy%5Bti%5D+OR+infantile%5Bti%5D)+NOT+(Dravet+syndrome%5Btw%5D+OR+severe%5Bti%5D) G40.3 86909 192990004 C0751120 C0917800 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Benign myoclonic epilepsy of infancy Beninge myoklonische Epilepsie des Kindesalters Epilepsia mioclónica benigna de la infancia Epilepsie myoclonique bégnine de l'enfance Epilessia mioclonica benigna dell'infanzia Epilepsia mioclónica de la infancia Epilepsia mioclónica do lactente Epilepsie myoclonique de l'enfance Epilessia mioclonica dell'infanzia Myoclonic epilepsy of infancy Myoklonusepilepsie des Kindesalters hrdo:pat_id_11785 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=myoclonic+absence*%5Btw%5D+epilepsy+OR+%28Epilepsies%2C+Myoclonic%5Bmh%5D+Epilepsy%2C+Absence%5Bmh%5D+absence*%5Btiab%5D%29 G40.4 86911 disease Epilepsia com ausências mioclónicas Epilepsia con ausencias mioclónicas Epilepsie avec absences myocloniques Epilepsie mit myoklonischen Absencen Epilepsy with myoclonic absences Epilessia con assenze miocloniche hrdo:pat_id_11786 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=encephalopath*%5Btw%5D+myoclonic+status%5Btw%5D+(nonprogressive+OR+%22non+progressive%22) G40.4 86913 malformation syndrome Epilepsia mioclónica em encefalopatias não-progressivas Epilepsia mioclónica en encefalopatías no progresivas Epilepsie myoclonique des encéphalopathies non-progressives Epilessia mioclonica in encefalopatia non progressiva Myoclonic epilepsy in non-progressive encephalopathies Myoklonische Epilepsie bei nicht-progressiven Enzephalopathien hrdo:pat_id_11787 152900 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Lymphedema+((CNS+Diseases+OR+cerebral)+Vascular+Malformations+OR+cerebrovascular+malformation%5Btw%5D) 86914 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Linfedema - anomalia arteriovenosa cerebral Linfedema - anomalía arteriovenosa cerebral Linfedema - malformazioni arterovenose cerebrali Lymphedema - cerebral arteriovenous anomaly Lymphoedème - anomalie cérébrale artérioveineuse Lymphödem - zerebrale arteriovenöse Fehlbildung hrdo:pat_id_11788 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601927 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Lymphoedema+%28Heart+Septal+Defects%2C+Atrial%5Bmh%5D+OR+atrial+septal+defects%29+%28facies%5Bmh%5D+OR+facial+changes+OR+face/ab%29 Q87.8 86915 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Irons-Bianchi syndrome Irons-Bianchi-Syndrom Sindrome di Irons-Bianchi Syndrome d'Irons-Bianchi Síndrome de Irons-Bianchi Linfedema - defectos del septo atrial - cambios faciales Linfedema - defeitos do septo auricular - anomalias faciais Linfedema - difetti del setto atriale - alterazioni facciali Lymphedema - atrial septal defects - facial changes Lymphoedème - communication inter-auriculaire - dysmorphie Lymphödem - Vorhofseptumdefekte - charakteristische Gesichtszüge hrdo:pat_id_11790 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Lymphoedema+%28cleft+palate%5Bti%5D+OR+cleft+palate%5Bmh%5D%29 86917 malformation syndrome Linfedema - fenda do palato Linfedema - fisura palatal Linfedema - palatoschisi Lymphedema - cleft palate Lymphoedème - fente palatine Lymphödem - Gaumenspalte hrdo:pat_id_11791 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Keratoderma%2C+Palmoplantar+%28acrocyanosis+OR+Raynaud+disease+OR+Cyanosis%29 Q82.8 86918 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome Sindrome ipercheratosi palmoplantare diffusa-acrocianosi Syndrome de hyperkératose palmoplantaire diffuse-acrocyanose Síndrome de hiperqueratosis palmoplantar difuso - acrocianosis Diffuse palmoplantar keratoderma-acrocyanosis syndrome Palmoplantarkeratose, diffuse - Akrozyanose Queratodermia palmoplantar difusa - acrocianose Sindrome cheratoderma palmoplantare diffuso-acrocianosi Syndrome de kératodermie palmoplantaire diffuse-acrocyanose Síndrome de queratodermia palmoplantar difuso - acrocianosis hrdo:pat_id_11792 148520 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Keratoderma%2C+Palmoplantar+OR+Keratosis+palmaris+plantaris%29+clinodactyl* Q82.8 86919 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cheratoderma palmoplantare - clinodattilia Kératodermie palmoplantaire - clinodactylie Palmoplantar keratoderma - clinodactyly Queratodermia palmoplantar - clinodactilia Keratosis palmaris et plantaris - Klinodaktylie Keratosis palmaris et plantaris - clinodactyly Keratosis palmaris et plantaris - clinodattilia Kératose palmoplantaire - clinodactylie Queratose palmar e plantar - clinodactilia Queratosis palmaris et plantaris - clinodactilia hrdo:pat_id_11793 125595 C535374 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Dermatopathia+pigmentosa+reticularis Q82.4 86920 239088003 C0406778 disease Dermatopathia pigmentosa reticularis Dermatopathia pigmentosa reticularis Dermatopathie réticulaire pigmentaire Dermatopatia pigmentar reticular Dermatopatia reticolare pigmentosa Dermatopatía pigmentosa reticularis hrdo:pat_id_11796 244850 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Keratoderma+OR+keratosis%29+%28Gamborg+nielsen%5Btw%5D+OR+norrbotten+RECESSIVE%29 Q82.8 86923 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type Hiperqueratosis palmoplantar hereditaria, tipo Gamborg-Nielsen Hyprkératose palmoplantaire héréditaire type Gamborg-Nielsen Ipercheratosi palmoplantare ereditaria, tipo Gamborg-Nielsen KPP type Gamborg-Nielsen PPK type Gamborg-Nielsen PPK, Gamborg-Nielsen type PPK, tipo Gamborg-Nielsen PPK, tipo Gamborg-Nielsen Palmoplantarkeratose, diffuse, rezessiver Typ Norbotten Cheratoderma palmoplantare ereditario, tipo Gamborg-Nielsen Hereditary palmoplantar keratoderma, Gamborg-Nielsen type Kératodermie palmoplantaire héréditaire type Gamborg-Nielsen Palmoplantarkeratose, hereditäre, Typ Gamborg-Nielsen Queratodermia palmoplantar hereditaria, tipo Gamborg-Nielsen Queratodermia palmoplantar hereditária, tipo Gamborg-Nielsen hrdo:pat_id_11798 87277 group of phenomes Atraso mental, raro Deficit cognitivo raro Déficit intelectual, raro Déficit intellectuel rare Intelligenzminderung, seltene Rare intellectual deficit hrdo:pat_id_118 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 143100 D006816 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=huntington%27s+disease%5Bmajr%5D G10 399 58756001 C0020179 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Chorea Huntington Chorée de Huntington Corea de Huntington Corea di Huntington Coreia de Huntington Huntington chorea Doença de Huntington Enfermedad de Huntington Huntington disease Huntington-Krankheit Maladie de Huntington Malattia di Huntington hrdo:pat_id_11800 248300 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=MELEDA+DISEASE%5Btw%5D+OR+MAL+DE+MELEDA%5Btw%5D+OR+KERATOSIS+PALMOPLANTARIS+SIEMENS Q82.8 87503 disease Cheratoderma palmoplantare Transgrediens palmoplantar keratoderma of Siemens Enfermedad de Meleda Keratosis palmoplantaris transgrediens Keratosis palmoplantaris transgrediens de Siemens Keratosis palmoplantaris transgrediens di Siemens Keratosis palmoplantaris transgrediens of Siemens Kératose palmoplantaire transgrediens de Siemens Maladie de Méléda Malattia di Meleda Meleda disease Meleda-Krankheit Queratodermia palmoplantar transgrediens de Siemens Queratosis palmoplantaris transgrediens de Siemens Transgrediens palmoplantar keratoderma of Siemens Mal de Meleda Mal de Meleda Mal de Meleda Mal de Meleda Mal de Meleda Mal de Meleda hrdo:pat_id_11801 Adulte jeune Adultos jóvenes Giovani adulti Jovem adulto Junge Erwachsene Young adult Young adult Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 256150 256550 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=mucolipidosis+i%5Btw%5D+OR+sialidosis+type+ii%5Btw%5D+OR+mucolipidoses+i%5Btw%5D E77.1 87876 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Infantile dysmorphic sialidosis Sialidose dysmorphique infantile Sialidose, dysmorphe infantile Sialidosis, infantil, dismórfica Sialidose Typ 2 Sialidose tipo 2 Sialidose type 2 Sialidosi, tipo 2 Sialidosis tipo 2 Sialidosis type 2 hrdo:pat_id_11802 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 124700 125000 221500 400043 612097 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28hearing+loss[ti]+OR+Deafness[ti]+OR+hearing+loss[majr]%29+%28nonsyndromic+OR+non+syndromic[tw]+OR+dfna*+OR+DFNB*+OR+dfn%29 H90.5 87884 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive group of phenomes Isolated genetic deafness Sordera genética aislada Sordità genetica isolata Surdité génétique isolée Nonsyndromic genetic deafness Schwerhörigkeit, genetisch-bedingte nicht-syndromale Sordera genética no sindrómica Sordità genetica non sindromica Surdez, genética, não sindrómica Surdité génétique non-syndromique hrdo:pat_id_11804 249500 607417 608443 611090 611091 611092 611093 611094 611095 611096 611097 611107 613192 614020 614202 614207 614208 614249 614329 614333 614339 614340 614341 614342 614343 614344 614345 614346 614347 614499 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(mental+retardation%5Bti%5D+OR+mental+retardation%5Bmajr%5D)+(nonsyndromic+OR+%22non+syndromic%22) 88616 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo etiological subtype NS-ARID NS-ARID NS-ARID NS-ARID NS-ARID Atraso mental, não sindrómico, autossómico recessivo Autosomal recessive nonsyndromic intellectual deficit Deficit cognitivo non sindromico autosomico recessivo Déficit intelectual no sindrómico autosómico recesivo Déficit intellectuel autosomique récessif non-syndromique Inteligenzminderung, nicht-syndromal, autosomal-rezessiv hrdo:pat_id_11805 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613752 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Adenosylhomocysteinase%2Fdf%5Bmajr%5D E72.1 88618 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hipermetioninemia provocada por déficit de S-adenosil homocisteína hidrolasa Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency Hypermethioninämie durch S-Adenosylhomocystein-Hydrolase-Mangel Hyperméthioninémie par déficit en S-adénosylhomocystéine hydrolase Ipermetioninemia da deficit di S-adenosilomocisteina idrolasi Atraso psicomotor por deficiência de S-adenosil-homocisteína hidrolase Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency Psychomotorische Retardierung durch S-Adenosylhomocystein-Hydrolase-Defizienz Retard psychomoteur due à un déficit en S-adénosylhocystéine hydrolase Retraso psicomotor provocado por déficit de S-adenosil homocisteina hidrolasa Ritardo psicomotorio da deficit di S-adenosilomocisteina idrolasi hrdo:pat_id_11806 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 608033 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(necrotizing+encephalopathy+OR+Leukoencephalitis,+Acute+Hemorrhagic)+dominant 88619 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ADANE ADANE ADANE ADANE ADANE Encefalopatia necrotizzante acuta ricorrente Encefalopatía aguda necrosante recurrente Encéphalopathie nécrosante aiguë récurrente Recurrent acute necrotizing encephalopathy Rekurrente akute nekrotisierende Enzephalopathie Encefalopatia necrotizante, aguda, autossómica dominante Encefalopatia necrotizzante acuta familiare Encefalopatía aguda necrosante familiar Encéphalopathie nécrosante aiguë familiale Enzephalopathie, akute nekrotisierende, familiäre Form Familial acute necrotizing encephalopathy hrdo:pat_id_11807 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 107200 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Congenital+anosmia%5Btw%5D+OR+anosmia%2Fcn)+NOT+syndrome 88620 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anosmia congenita isolata Anosmia congénita aislada Anosmia, isolada, congénita Anosmie congénitale isolée Anosmie, isolierte kongenitale Isolated congenital anosmia hrdo:pat_id_11808 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 608649 C536271 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=ichthyosis%5Bti%5D+(prematurity+syndrome%5Btw%5D+OR+(type+IV%5Btw%5D+OR+type+4%5Btw%5D)) 88621 C1837610 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Congenital ichthyosis type 4 IPS IPS IPS IPS IPS Ichthyose, kongenitale, Typ 4 Ichtyose congénitale type 4 Ictiosis congénita de tipo 4 Ittiosi congenita, tipo 4 Ichthyose-Frühgeburt-Syndrom Ichthyosis prematurity syndrome Sindrome ittiosi-prematurità Syndrome de d'ichtyose-prématurité Síndrome da ictiose da prematuridade Síndrome de ictiosis y prematuridad hrdo:pat_id_11809 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 609033 C536343 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Posterior+column+ataxia%5Btw%5D+retinitis+pigmentosa G11.1 H35.5 88628 C1836916 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atassia del cordone posteriore - retinite pigmentosa autosomica recessiva Ataxie du cordon postérieur - rétinite pigmentaire autosomique récessif Autosomal recessive posterior column ataxia and retinitis pigmentosa Enfermedad de astas posteriores, ataxia y retinosis pigmentaria, autosómica recesiva Hinterstrangataxie und Retinitis pigmentosa, autosomal-rezessive Form PCARP PCARP PCARP PCARP Atassia del cordone posteriore - retinite pigmentosa Ataxia cordonal posterior - retinite pigmentosa Ataxie du cordon postérieur - rétinite pigmentaire Enfermedad de astas posteriores, ataxia - retinosis pigmentaria Hinterstrangataxie - Retinitis pigmentosa Posterior column ataxia - retinitis pigmentosa hrdo:pat_id_1181 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(6p*%5Bti%5D+(duplication%5Bti%5D+OR+trisomy%5Bti%5D))+(distal+OR+terminal+OR+subterminal+OR+pure+OR+pter+OR+6pter+OR+partial) Q92.3 1745 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Distal duplication 6p Distale Duplikation 6p Duplication distale 6p Duplication télomérique 6p Duplicazione 6p distale Duplicazione 6p telomerica Telomeric duplication 6p Trisomia 6pter Trisomie 6pter Trisomy 6pter Trisomy 6pter Trisomía 6p Trissomia 6p Distal trisomy 6p Duplicación 6p Duplicação 6p Trisomia 6p distale Trisomie 6p, distale Trisomie distale 6p hrdo:pat_id_11810 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 190900 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Tritanopia%5Bti%5D+OR+((color+vision+defects)+tritanopia%5Btw%5D) H53.5 88629 85049009 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Blaublindheit Blue colour blindness Cecità ai colori - tritan Cecità al blu Ceguera al color azul Ceguera al color, tritán Congenital tritanopia Dyschromatopsie du bleu Farbenblindheit, Tritan-Typ Tritan colour blindness Tritanopia congenita Tritanopie congénitale Tritanopie, kongenitale Tritanopía congénita Tritanopia Tritanopia Tritanopia Tritanopie Tritanopie Tritanopía hrdo:pat_id_11811 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300244 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Terminal+osseous+dysplasia%5Btw%5D+(pigmentary+defects+OR+Pigmentation+Disorders+%5Bmh%5D) Q87.2 88630 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia ossea terminale - difetti della pigmentazione Displasia ósea terminal - defectos pigmentarios Displasia óssea terminal - defeitos pigmentares Dysplasie osseuse terminale - défauts de pigmentation Terminal osseous dysplasia - pigmentary defects Terminale Knochendysplasie - Pigmentstörungen hrdo:pat_id_11812 107250 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(anterior+segment+mesenchymal+dysgenesis%5Bti%5D+OR+anterior+segment+dysgenesis%5Bti%5D)+(humans+OR+patient) Q13.8 88632 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Disgenesia mesenchimale familiare del segmento anteriore dell'occhio Disgenesia mesenquimal del segmento ocular anterior, familiar Disgenesia mesenquimatosa do segmento anterior do olho, familiar Dysgénésie familiale du segment antérieur de l'œil Familial ocular anterior segment mesenchymal dysgenesis Mesenchymale Dysgenesie des vorderen Augensegmentes, familiäre hrdo:pat_id_11813 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Superior+limbic+keratoconjunctivitis%5Btw%5D H16.2 88633 231903005 C0339229 disease Cheratocongiuntivite limbica superiore di Theodore Queratoconjuntivitis límbica superior de Theodore SLK SLK SLK SLK SLK Sindrome di Theodore Syndrome de Théodore Síndrome de Theodore Theodore's superior limbic keratoconjunctivitis Theodore's superiore limbische Keratokonjunktivitis Theodore's syndrome Theodore's-Syndrom kérato-conjonctivite limbique supérieure de Théodore Cheratocongiuntivite limbica superiore Keratokonjunktivitis, limbische superiore Kératoconjonctivite limbique supérieure Queratoconjuntivite límbica superior Queratoconjuntivitis límbica superior Superior limbic keratoconjunctivitis hrdo:pat_id_11814 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=(Muscular+Diseases%5Bmh%5D+OR+myopathy%5Bti%5D)+(calsequestrin%5Bti%5D+OR+calsequestrin%5Bmajr%5D+OR+SERCA1%5Bti%5D+OR+SERCA1+Calcium+ATPase%5Bmajr%5D) G71.8 88635 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Miopatia da sovraccarico di calsequestrina e proteina SERCA1 Miopatia por sobrecarga das proteínas calsequestrina e SERCA1 Miopatía provocada por exceso de calsecuestrina y proteína SERCA1 Myopathie due à une surcharge en calséquestrine et SERCA1 Myopathie durch Calsequestrin- und SERCA1-Protein-Overload Myopathy due to calsequestrin and SERCA1 protein overload hrdo:pat_id_11815 Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Aortic+Aneurysm+(R460H+OR+TGFbetaR2+OR+TGFBR2+OR+TGF+beta+Receptor) 88636 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Aortendilatation - Gelenküberbeweglichkeit - geschlängelte Arterien Aortic dilatation - joint hypermobility - arterial tortuosity Dilatación aórtica - hipermovilidad de las articulaciones - tortuosidad arterial Dilatation aortique - hypermobilité articulaire - tortuosité artérielle Dilatazione aortica - ipermobilità articolare - tortuosità delle arterie Dilatação aórtica - hipermobilidade articular - tortuosidade arterial hrdo:pat_id_11816 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 607694 614381 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Demyelinating+Diseases+OR+hypomyelination)+hypogonadism+(hypodontia+OR+Anodontia) E23.0 E75.2 K00.0 88637 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 4H syndrome 4H-Syndrom Sindrome 4H Syndrome 4H Síndrome 4H Hipomielinazação - hipogonadismo hipogonadotrófico - hipodontia Hipomielinización - hipogonadismo hipogonadotrópico - hipodontia Hypomyelination - hypogonadotropic hypogonadism - hypodontia Hypomyelinisierung - Hypogonadotroper Hypogonadismus - Hypodontie Hypomyélinisation - hypogonadisme hypogonadotrophique - hypodontie Ipomielinizzazione - ipogonadismo ipogonadotropico - ipodonzia hrdo:pat_id_11817 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis 250620 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=3-hydroxyisobutyryl-CoA+hydrolase+deficiency E71.1 88639 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Aciduria metacrilica Aciduria metacrílica Acidurie méthacrylique Methacrylic aciduria Neurodegeneración por deficiencia en 3-hidroxisobutiril-CoA-hidrolasa Neurodegeneración por déficit en 3-hidroxisobutiril-CoA-hidrolasa Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency Neurodegeneration durch 3-Hydroxyisobutyryl-CoA-Hydrolase-Mangel Neurodegenerazione da deficit di 3-idrossi-isobutirril-CoA idrolasi Neurodegeneração por deficiência da 3-hidroxi-isobutiril-CoA hidrolase Neurodégénérescence par déficit en 3-hydroxyisobutyryl-CoA hydrolase hrdo:pat_id_11818 147430 147530 243000 D000699 D009477 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Pain+Insensitivity,+Congenital%5Bmh%5D+OR+Congenital+(indifference%5Bti%5D+OR+SCN9A)+pain+OR+(Congenital+analgesia%5Btw%5D)+NOT+CIPA G60.8 88642 128206006 403605007 C0002768 C0020075 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Ionenkanal-assoziierte Analgesie Canalopathie associée à une insensibilité congénitale à la douleur Channelopathy-associated congenital insensitivity to pain Indiferença congénita à dor Insensibilidad congénita al dolor asociada a canalopatía Insensibilità congenita al dolore associata a canalopatia Schmerzunempfindlichkeit, Ionenkanal-abhängige hrdo:pat_id_11819 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Obesity+colitis+hypothyroidism+cardiac+hypertrophy 88643 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Adipositas - Kolitis - Hypothyreoidismus - Herzhypertrophie - Entwicklungsverzögerung Obesidad - colitis - hipotiroidismo - hipertrofia cardiaca - retraso del desarrollo Obesidade - colite - hipotiroidismo - hipertrofia cardíaca - atraso do desenvolvimento Obesity - colitis - hypothyroidism - cardiac hypertrophy - developmental delay Obesità - colite - ipotiroidismo - ipertrofia cardiaca - ritardo dello sviluppo Obésité - colite - hypothyroïdie - hypertrophie cardiaque - retard de développement hrdo:pat_id_11820 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 610743 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Ataxia+cerebellar+(Beauce%5Btw%5D+OR+arca+1%5Btw%5D+OR+SYNE1) G11.2 88644 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ARCA1 ARCA1 ARCA1 ARCA1 ARCA1 Atassia cerebellare autosomica recessiva, tipo 1 Atassia cerebellare, autosomica recessiva, tipo 1 Ataxia cerebelosa autosómica recesiva, tipo 1 Ataxie cérébelleuse autosomique récessive type 1 Ataxie, zerebelläre, autosomal-rezessive, Typ 1 Autosomal recessive cerebellar ataxia type 1 SCAR8 SCAR8 SCAR8 SCAR8 SCAR8 Atassia autosomica recessiva, tipo Beauce Ataxia autosómica recesiva, tipo Beauce Ataxia, autossómica recessiva, tipo Beauce Ataxie cérébelleuse autosomique récessive type Beauce Ataxie, autosomal-rezessive, Typ Beauce Autosomal recessive ataxia, Beauce type hrdo:pat_id_11821 161900 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=((((Kidney+Failure%2Fge%5Bmajr%3Anoexp%5D+hypertension)+OR+nephritis,+hereditary%5Bmh%5D)+NOT+alport*%5Btiab%5D)+dominant)+NOT+hearing+loss I15.1 88659 disease Autosomal dominant progressive nephropathy with hypertension Nefropatia progressiva com hipertensão, autossómica dominante Nefropatia progressiva con ipertensione, autosomica dominante Nefropatía progresiva con hipertensión, autosómica dominante Nephropathie, progressive mit Hypertension, autosomal-dominante Form Néphropathie progressive avec hypertension autosomique dominante hrdo:pat_id_11822 605115 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=pregnancy+hypertension+Receptors,+Mineralocorticoid+(humans+OR+patient) I15.1 88660 disease Early-onset hypertension with exacerbation in pregnancy Hypertension due to gain-of-function mutations in the mineralocorticoid receptor Hypertension durch 'gain-of-function'-Mutationen im Mineralocorticoid-Rezeptor Hypertension par mutation gain de fonction du récepteur aux minéralocorticoïdes Hypertension à début précoce accentuée par la grossesse Ipertensione a esordio precoce aggravata dalla gravidanza Ipertensione da mutazioni con guadagno di funzione nel recettore dei mineralcorticoidi Pseudo-hiperaldosteronismo tipo 2 Pseudohiperaldosteronismo tipo 2 Pseudohyperaldosteronism type 2 Pseudohyperaldosteronismus Typ 2 Pseudohyperaldostéronisme type 2 Pseudoiperaldosteronismo, tipo 2 hrdo:pat_id_11823 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance D000567 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Amelogenesis+imperfecta%5Bti%5D+OR+Amelogenesis+imperfecta%5Bmajr%5D)+NOT+(renal+disease) K00.5 88661 78494001 C0002452 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Dominant lié à l'X Dominante legata all'X Dominante ligado al X Esporádica Esporádico Ligado ao X dominante Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X Sporadic Sporadic Sporadica Sporadique Sporadisch X-chromosomal-dominant X-chromosomal-rezessiv X-linked dominant X-linked dominant X-linked recessive X-linked recessive disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Amelogenesi imperfetta Amelogenesis imperfecta Amelogenesis imperfecta Amelogénese imperfeita Amelogénesis imperfecta Amélogenèse imparfaite hrdo:pat_id_11824 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 114550 D006528 10049010 neant C22.0 88673 25370001 disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Carcinoma Hepatocelular Carcinoma epatocellulare Carcinoma hepatocelular Carcinome hépatocellulaire Hepatocellular carcinoma Hepatozelluläres Karzinom (HCC) hrdo:pat_id_11849 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 301050 neant Q87.8 88917 C1567742 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant etiological subtype 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Alport-Syndrom, X-chromosomales Sindrome di Alport legata all'X Syndrome d'Alport lié à l'X Síndrome de Alport ligado a X Síndrome de Alport ligado ao X X-linked Alport syndrome hrdo:pat_id_11850 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 104200 C536586 neant Q87.8 88918 C1567743 C2931253 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate etiological subtype Alport-Syndrom, autosomal-dominantes Autosomal dominant Alport syndrome Sindrome di Alport, tipo autosomico dominante Syndrome d'Alport autosomique dominant Síndrome de Alport tipo dominante Síndrome de Alport tipo dominante hrdo:pat_id_11851 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 203780 neant Q87.8 88919 C1567744 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo etiological subtype Alport-Syndrom, autosomal-rezessives Autosomal recessive Alport syndrome Sindrome di Alport, tipo autosomico recessivo Syndrome d'Alport autosomique récessif Síndrome de Alport tipo recesivo Síndrome de Alport tipo recessivo hrdo:pat_id_11856 600273 neant 88924 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome da geni contigui - sclerosi tuberosa - rene policistico Syndrome du gène contigu de la sclérose tubéreuse/polykystose rénale TSC2/PKD1-Contiguous-Gene-Syndrom Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome Tuberöse Sklerose/polyzystische Nierenkrankheit - Contigous-Gene-Syndrom Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis Doença renal poliquística, autossómica dominante, tipo 1, com esclerose tuberosa Enfermedad del riñón poliquístico autosómica dominante de tipo 1 y con esclerosis tuberosa Nierenkrankheit, polyzystische, autosomal-dominante, Typ 1, mit tuberöser Sklerose Polykystose rénale autosomique dominante type 1 avec sclérose tubéreuse Rene policistico con sclerosi tuberosa, autosomica dominante, tipo 1 hrdo:pat_id_1186 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(8q*%5Bti%5D+(duplication%5Bti%5D+OR+trisomy%5Bti%5D))+NOT+(distal+OR+terminal+OR+subterminal+OR+pure+OR+qter+OR+8qter) Q92.2 1752 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Duplicación 8q Duplication 8q Duplication 8q Duplicazione 8q Duplikation 8q Trissomia 8q Duplicação 8q Trisomia 8q Trisomie 8q Trisomie 8q Trisomy 8q Trisomía 8q hrdo:pat_id_11870 145260 neant I15.1 88938 etiological subtype PHA2A PHA2A PHA2A PHA2A PHA2A Pseudo-hipoaldosteronismo tipo 2A Pseudohipoaldosteronismo tipo 2A Pseudohypoaldosteronism type 2A Pseudohypoaldosteronismus Typ 2A Pseudohypoaldostéronisme type 2A Pseudoipoaldosteronismo, tipo 2A hrdo:pat_id_11871 614491 neant I15.1 88939 etiological subtype PHA2B PHA2B PHA2B PHA2B PHA2B Pseudo-hipoaldosteronismo tipo 2B Pseudohipoaldosteronismo tipo 2B Pseudohypoaldosteronism type 2B Pseudohypoaldosteronismus Typ 2B Pseudohypoaldostéronisme type 2B Pseudoipoaldosteronismo, tipo 2B hrdo:pat_id_11872 614492 neant I15.1 88940 etiological subtype PHA2C PHA2C PHA2C PHA2C PHA2C Pseudo-hipoaldosteronismo tipo 2C Pseudohipoaldosteronismo tipo 2C Pseudohypoaldosteronism type 2C Pseudohypoaldosteronismus Typ 2C Pseudohypoaldostéronisme type 2C Pseudoipoaldosteronismo, tipo 2C hrdo:pat_id_11881 neant Q61.5 88949 clinical subtype Autosomal dominant medullary cystic kidney disease without hyperuricemia Doença renal medular quística, autossómica dominante, sem hiperuricemia Maladie kystique de la médullaire autosomique dominante sans hyperuricémie Malattia cistica della midollare renale, autosomica dominante, senza iperuricemia Nierenkrankheit, medulläre zystische, autosomal-dominante, Typ 2 Riñón quístico medular sin hiperuricemia, autosómica dominante hrdo:pat_id_11882 neant Q61.5 88950 clinical subtype Autosomal dominant medullary cystic kidney disease with hyperuricemia Doença renal medular quística, autossómica dominante, com hiperuricemia Maladie kystique de la médullaire autosomique dominante avec hyperuricémie Malattia cistica della midollare renale, autosomica dominante, con iperuricemia Nierenkrankheit, medulläre zystische, autosomal-dominante, Typ 1 Riñón quístico medular con hiperuricemia, autosómica dominante hrdo:pat_id_11884 88991 group of phenomes Congenital heart malformation Herzfehlbildung, kongenitale Malformación del corazón, congénita Malformation cardiaque congénitale Malformazione cardiaca rara Malformação cardíaca congénita hrdo:pat_id_11886 88993 group of phenomes Esofágica, malformación, congénita Esofágica, malformação Esophageal malformation Malformation de l'œsophage Malformazione esofagea congenita Ösophagusfehlbildung, kongenitale hrdo:pat_id_11895 89043 group of phenomes Demencia, rara Demenz, seltene Demenza rara Demência rara Démence rare Rare dementia hrdo:pat_id_11896 89826 group of phenomes Doença de pele rara Enfermedad de la piel, rara Hautkrankheit, seltene Maladie rare de la peau Malattia cutanea rara Rare skin disease hrdo:pat_id_11897 89832 group of phenomes Linfedema sindromico Linfedema sindrómico Linfedema sindrómico Lymphoedème syndromique Lymphödem, syndromales Syndromic lymphedema hrdo:pat_id_11898 89833 disease Cheratoderma palmoplantare con cheratina tonotubulare Kératodermie palmoplantaire à kératine tonotubulaire Palmoplantar keratoderma with tonotubular keratin Palmoplantarkeratose mit ''tonotubulärem'' Keratin Queratodermia palmoplantar com queratina tonotubular Queratodermia palmoplantar con queratina tonotubular hrdo:pat_id_1190 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300260 300815 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(duplication%5Bti%5D+OR+gene+duplication)+(Xq28+OR+MeCP2+Protein) Q99.8 1762 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Distal duplication Xq Duplicación distal Xq Duplicación telomérica Xq Duplication distale Xq Duplication télomérique Xq Duplicazione Xq distale Duplicazione Xq telomerica Duplikation Xq, distal Telomeric duplication Xq Trissomia Xq Duplicação Xq Trisomia Xq28 Trisomie Xq28 Trisomie Xq28 Trisomy Xq28 Trisomía Xq28 hrdo:pat_id_11903 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601001 neant Q81.0 89838 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 EBS-AR EBS-AR EBS-AR EBS-AR Epidermolisis bullosa simple autosómica recesiva Autosomal recessive epidermolysis bullosa simplex Epidermolisi bollosa semplice autosomica recessiva Epidermolisis ampollosa simple autosómica recesiva Epidermolyse bulleuse simple autosomique récessive Epidermolysis bullosa simplex ohne Muskeldystrophie, autosomal-rezessive Epidermólise bolhosa simples, autossómica recessiva, sem distrofia muscular hrdo:pat_id_11904 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 607600 neant Q81.0 89839 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown EBSS EBSS EBSS EBSS Epidermolisis bullosa simple superficial Epidermolisi bollosa semplice superficiale Epidermolisis ampollosa simple superficial Epidermolyse bulleuse simple superficielle Epidermolysis bullosa simplex superficialis Epidermolysis bullosa simplex superficialis Epidermólise bolhosa simples superficial hrdo:pat_id_11905 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 226650 neant Q81.8 89840 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 EBJ-nH Epidermólisis bullosa juntural, no de tipo Herlitz JEN-nH Epidermolisi bollosa giunzionale, tipo non-Herlitz Epidermolyse bulleuse jonctionnelle type non-Herlitz Epidermolysis bullosa, junktionale, non-Herlitz Typ Epidermólise bolhosa juncional, tipo não-Herlitz Epidermólisis ampollosa juntural, no de tipo Herlitz Junctional epidermolysis bullosa, non-Herlitz type hrdo:pat_id_11906 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q81.2 89841 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Centripetal dystrophic epidermolysis bullosa Centripetal recessive dystrophic epidermolysis bullosa EBDR centripète Epidermólisis bullosa distrófica centrípeta (forma rara) RDEB, centripetalis RDEB-Ce Centripetalis recessive dystrophic epidermolysis bullosa Epidermolisi bollosa distrofica centripeta (forma rara) Epidermolyse bulleuse dystrophique récessive centripète Epidermolysis bullosa, dystrophe zentripetale Epidermólise bolhosa distrófica centrípeta (forma rara) Epidermólisis ampollosa distrófica centrípeta (forma rara) hrdo:pat_id_11907 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q81.2 89842 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis Autosomal recessive dystrophic epidermolysis bullosa, generalized other EBDR généralisée autre EBDR type non-Hallopeau-Siemens Epidermolyse bulleuse dystrophique récessive type non-Hallopeau-Siemens Epidermólisis bullosa distrófica, autosómica recesiva, no del tipo Hallopeau-Siemens Generalized mitis RDEB RDEB generalisata mitis RDEB, non-Hallopeau-Siemens type RDEB-O RDEB-O RDEB-generalized other Recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type Epidermolisi bollosa distrofica, autosomica recessiva, tipo non-Hallopeau-Siemens Epidermolyse bulleuse dystrophique récessive généralisée autre Epidermolysis bullosa, dystrophe, autosomal-rezessive (non-Hallopeau-Siemens Typ) Epidermólise bolhosa distrófica, autossómica recessiva, tipo não-Hallopeau-Siemens Epidermólisis ampollosa distrófica, autosómica recesiva, no del tipo Hallopeau-Siemens Recessive dystrophic epidermolysis bullosa-generalized other hrdo:pat_id_11908 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 604129 neant Q81.2 89843 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown DEB, pruriginosa DEB-Pr Epidermólisis bullosa distrófica, pruriginosa Pruriginous dystrophic epidermolysis bullosa Dystrophic epidermolysis bullosa pruriginosa Epidermolisi bollosa distrofica pruriginosa Epidermolyse bulleuse dystrophique prurigineuse Epidermolysis bullosa, dystrophe pruriginöse Epidermólise bolhosa distrófica, pruriginosa Epidermólisis ampollosa distrófica, pruriginosa hrdo:pat_id_11909 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 257320 C537848 neant Q04.3 89844 C0796089 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Microlissencefalia, tipo A Microlissencephaly type A Microlissencéphalie type A Lissencephaly syndrome, Norman-Roberts type Lissencéphalie type Norman-Roberts Lissenzephalie-Syndrom Typ Norman-Roberts Sindrome lissencefalica, tipo Norman-Roberts Síndrome de lisencefalia tipo Norman-Roberts Síndrome de lisencefalia tipo Norman-Roberts hrdo:pat_id_11910 C531708 neant P83.2 89845 206538000 disease Hidrópsia fetal idiopática Hydrops fetalis idiopathique Hydrops fetalis, idiopathisches Hydrops fetalis, idiopático Idiopathic hydrops fetalis Idrope fetale idiopatica hrdo:pat_id_11911 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 307800 neant E83.3 89936 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Rachitis, hypophosphatämische, X-chromosomale Rachitisme hypophosphatémique lié à l'X Rachitismo ipofosfatemico legato all'X Raquitismo hipofosfatémico ligado al X X-linked hypophosphatemic rickets XLH XLH XLH XLH XLH Hipofosfatemia ligada al X Hipofosfatemia ligada ao X Hypophosphatämie, X-chromosomale Hypophosphatémie liée à l'X Ipofosfatemia legata all'X X-linked hypophosphatemia hrdo:pat_id_11912 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 193100 neant E83.3 89937 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown ADHR ADHR ADHR ADHR ADHR Autosomal dominant hypophosphatemia Hipofosfatemia autosómica dominante Hypophosphatämie, autosomal-dominante Hypophosphatémie autosomique dominante Ipofosfatemia autosomica dominante Autosomal dominant hypophosphatemic rickets Rachitis, hypophosphatämische, autosomal-dominante Rachitisme hypophosphatémique autosomique dominant Rachitismo ipofosfatemico autosomico dominante Raquitismo hipofosfatémico Raquitismo hipofosfatémico autosómico dominante hrdo:pat_id_11913 602522 613090 neant E26.8 89938 clinical subtype Bartter syndrome type 4 Syndrome de Bartter type 4 Bartter-Syndrom mit Taubheit (BSND) Infantile Bartter syndrome with deafness Sindrome di Bartter con sordità Syndrome de Bartter infantile avec surdité Síndrome de Bartter con sordera Síndrome de Bartter, com surdez hrdo:pat_id_11914 neant N25.8 89939 236463002 disease Acidose tubulaire rénale type 4 Acidosi dei tubuli renali, tipo 4 Acidosis tubular renal tipo 4 Azidose, renale tubuläre, Typ 4 Renal tubular acidosis type 4 Acidose tubulaire rénale hyperkalémique Acidose tubular renal, hipercaliémica (tipo 4) Acidosi renale tubulare ipercaliemica Acidosis tubular renal hipercaliémica Azidose, renale tubuläre, hyperkaliämische Hyperkalemic renal tubular acidosis hrdo:pat_id_11918 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável C535509 10056968 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Erythema+elevatum+diutinum%5Btw%5D L95.1 90000 254757003 58872001 C0263398 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Eritema elevado persistente Eritema elevatum diutinum Eritema elevatum diutinum Erythema elevatum diutinum Erythema elevatum diutinum Erythema elevatum diutinum hrdo:pat_id_11919 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 300843 310460 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Cone+dysfunction%5Btw%5D+X+linked%5Btw%5D+myopia 90001 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Bornholm eye disease Enfermedad ocular de Bornholm Maladie des yeux type Bornholm Malattia oculare, tipo Bornholm Sindrome da disfunzione dei coni con miopia, legata all'X Syndrome d'anomalie des cônes avec myopie lié à l'X Síndrome de disfunción de los conos con miopía Síndrome de disfunção dos cones com miopia ligado ao X X-linked cone dysfunction syndrome with myopia Zapfendystrophie-Myopie-Syndrom, X-chromosomales hrdo:pat_id_11920 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=undifferentiated+connective+tissue+disease*%5Btw%5D 90002 239918008 C0409999 disease Bindegewebskrankheit, undifferenzierte UCTD UCTD UCTD Connectivite indifférenciée Sindromi indifferenziate del tessuto connettivo Síndromes do tecido conjuntivo, indiferenciados Síndromes no diferenciados del tejido conectivo Undifferentiated connective tissue syndrome Undifferenzierte Kollagenosen (UDK) hrdo:pat_id_11921 Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(liver+diseases%5Bmajr%5D+OR+liver%5Bti%5D)+Inflammatory+pseudotumor 90003 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Inflammatory pseudotumor of the liver Pseudotumeur inflammatoire du foie Pseudotumor der Leber, inflammatorischer Pseudotumor inflamatorio del hígado Pseudotumor inflamatório do fígado Pseudotumore infiammatorio del fegato hrdo:pat_id_11922 105500 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Amyotrophic+lateral+sclerosis+OR+als%5Bti%5D+OR+guam%5Bti%5D)+dementia%5Bmajr%5D+(Parkinsonian+Disorders+OR+parkinson*%5Bti%5D) G12.2 G31.0 90020 disease ALS-Parkinson-Demenz-Komplex Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam Complesso Parkinson-demenza-SLA Complexe parkinson-SLA-démence Enfermedad "Lytico-bodig" Enfermedad de Guam Esclerosis lateral amiotrófica - parkinsonismo - demencia de Guam Guam ALS-Parkinson-Demenz-Komplex Guam disease Guam-Krankheit Lytico-Bodig-Krankheit Lytico-bodig disease Maladie de Guam Maladie lytico-bodig Malattia "Lytico-bodig" Malattia di Guam PDALS PDALS PDALS PDALS Parkinsonism-dementia-ALS complex Parkinsonismo - demencia - complejo ALS Sclerosi laterale amiotrofica - parkinsonismo - demenza di Guam Sclérose latérale amyotrophique - parkinsonisme - démence de Guam Amyotrophe Lateralsklerose-Parkinson-Demenz-Komplex Amyotrophic lateral sclerosis-parkinsonism-dementia complex Complesso sclerosi laterale amiotrofica-parkinsonismo-demenza Complexe sclérose latérale amyotrophique-Parkinson-démence Complexo esclerose lateral amiotrófica-parkinsonismo-demência Esclerosis lateral amiotrófica - complejo demencia - parkinsonismo hrdo:pat_id_11923 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(radiation+induced%5Btw%5D+OR+Radiotherapy%2Fae+OR+Radiation+Injuries)+myelitis G97.8 90021 disease Myélite post-radique Mielite da radiazioni Mielite por radiação Mielitis por radiación Myelitis, radiogene Myélite radique Radiation myelitis hrdo:pat_id_11924 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Cardiomyopath*%5Bti%5D+OR+cardiomyopathies%5Bmh%5D)+(Kidney%2Fab+OR+renal+abnormal*%5Bti%5D+OR+renal+anomal*%5Bti%5D) 90022 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cardiomiopatia - anomalie renali Cardiomiopatía - anomalías renales Cardiomyopathie - anomalies rénales Cardiomyopathy - renal anomalies Kardiomyopathie - Nierenanomalien Miocardiopatia - anomalias renais hrdo:pat_id_11925 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 610798 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=immunodeficiency+syndrome+endosom*+P14 D82.8 90023 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Primary immunodeficiency syndrome with short stature Sindrome da immunodeficienza primitiva con bassa statura Syndrome d'immunodéficience primaire avec petite taille Síndrome de inmunodeficiencia primaria con estatura baja Infektionen, rekurrente - Kleinwuchs - Hypopigmentation - grobe Gesichtszüge Infeções recorrentes - baixa estatura - hipopigmentação - fácies grosseira Primary immunodeficiency syndrome due to p14 deficiency Sindrome da immunodeficienza primitiva dovuta a deficit di p14 Syndrome d'immunodéficience primaire dû au déficit en p14 Síndrome de inmunodeficiencia primaria por déficit de p14 hrdo:pat_id_11926 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 610706 C548011 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Microdontia+microtia+(deafness+OR+hearing+loss) 90024 C2932664 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 LAMM syndrome LAMM-Syndrom Microdoncia - microtia tipo I - sordera Microdontia - type I microtia - deafness Microdontie - microtie type 1 - surdité Microdonzia - microtia tipo I - sordità Mikrodontie - Typ I Mikrotie - Taubheit Sindrome LAMM Syndrome LAMM Síndrome LAMM Deafness with labyrinthine aplasia, microtia, and microdontia Microdontia - microtia tipo I - surdez Schwerhörigkeit mit Labyrinthaplasie - Mikrotie - Mikrodontie Sordera con aplasia del laberinto, microtia y microdoncia Sordità con aplasia labirintica, microtia e microdonzia Surdité avec aplasie du labyrinthe, microtie et microdontie hrdo:pat_id_11927 D013576 10042778 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Syndactyly%5Bti%5D+OR+Syndactyly%5Bmajr%5D)+(humans+OR+patient) Q70 90025 373413006 C0039075 group of phenomes Sindactilia Sindactilia Sindattilia Syndactylie Syndactyly Syndaktylie hrdo:pat_id_11928 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 133020 neant I73.8 90026 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Eritermalgia primitiva Eritermalgia primária Eritermalgia, primaria Erythermalgie primaire Erythromelalgie, primäre Primary erythermalgia hrdo:pat_id_11929 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(anemia%5Bti%5D+OR+anemia%5Bmh%5D)+(glutathione+reductase+deficiency%5Btw%5D+OR+glutathione+reductase%2Fdf) D55.1 90030 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anemia emolitica da deficit di glutatione reduttasi Anemia hemolítica por deficiência de glutationa reductase Anemia hemolítica por déficit de glutatión reductasa Anämie, hämolytische durch Glutathion-Reduktase-Mangel Anémie hémolytique due à un déficit en glutathion réductase Hemolytic anemia due to glutathione reductase deficiency hrdo:pat_id_1193 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 277320 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(intestinal+pseudo-obst*%5Btw%5D+OR+visceral+myopathy%5Bti%5D+OR+muscular+dystroph*%5Btw%5D)+(ophthalmopleg*%5Bti%5D+OR+oculogastrointest*%5Bti%5D) G71.0 1876 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Miopatia visceral - oftalmoplegia externa familiar Miopatia viscerale familiare - oftalmoplegia esterna Myopathie viscérale familiale - ophtalmoplégie externe Myopathie, familiäre viszerale mit externer Ophtalmoplegie Visceral myopathy - familial external ophthalmoplegia Distrofia muscolare oculogastrointestinale Distrofia muscular óculo-gastro-intestinal Distrofia muscular óculo-gastrointestinal Dystrophie musculaire oculo-gastro-intestinale Muskeldystrophie, gastrointestinale okuläre Oculogastrointestinal muscular dystrophy hrdo:pat_id_11930 235700 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(anemia%5Bti%5D+OR+anemia%5Bmh%5D)+(hexokinase+deficiency%5Btw%5D+OR+hexokinase%2Fdf) D55.2 90031 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anemia emolitica non sferocitica da deficit di esochinasi Anemia hemolítica não-esferocítica por deficiência de hexocinase Anemia hemolítica, no esferocítica, por déficit de hexoquinasa Anämie, hämolytische, nicht-sphärozytäre durch Hexokinase-Mangel Anémie hémolytique non-sphérocytique due à un déficit en hexokinase Nonspherocytic hemolytic anemia due to hexokinase deficiency hrdo:pat_id_11931 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Variabel Variabile Variable Variable Variable Variable Variável 10047822 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(anemia%5Bti%5D+OR+anemia%5Bmh%5D)+hemolytic+(warm+type%5Btw%5D) D59.1 90033 3978000 C0272118 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 AHAI caliente AIHA calda AIHA caliente AIHA chaud Warm AIHA wAHA wAHA wAHA wAHA wAIHA wAIHA wAIHA wAIHA Anemia autoinmune hemolítica, tipo caliente Anemia emolitica autoimmune da autoanticorpi caldi Anemia hemolítica autoimune, tipo quente Anämie, autoimmun-hämolytische, Wärme-Typ Anémie hémolytique auto-immune à auto-anticorps chauds Autoimmune hemolytic anemia, warm type hrdo:pat_id_11932 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter C538618 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Paroxysmal+cold+hemoglobinuria%5Bti%5D+OR+Hemoglobinuria,+Paroxysmal%5Bmh%5D D59.6 90035 127057004 62871001 C0272129 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Anemia emolitica di Donath-Landsteiner Anemia hemolítica de Donath-Landsteiner Anémie hémolytique de Donath-Landsteiner Donath-Landsteiner hemolytic anemia Donath-Landsteiner hämolytische Anämie Donath-Landsteiner syndrome Donath-Landsteiner-Syndrom PCH PCH PCH PCH PCH Sindrome di Donath-Landsteiner Syndrome de Donath-Landsteiner Síndrome de Donath-Landsteiner Emoglobinuria parossistica a frigore Hemoglobinuria paroxística por frío Hemoglobinúria paroxística pelo frio Hémoglobinurie paroxystique à frigore Paroxysmal cold hemoglobinuria Paroxysmale Kältehämoglobinurie hrdo:pat_id_11933 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(mixed+type%5Btw%5D+OR+(cold%5Btw%5D+mixed+warm))+(hemolytic+anemia%5Bmh%3Anoexp%5D+OR+Anemia,+Hemolytic,+Autoimmune+OR+hemolytic+anemia%5Bti%5D) D59.1 90036 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 AHAI de tipo mixto AIHA de tipo mixto AIHA mista AIHA mixte Mixed AIHA Anemia emolitica autoimmune, tipo misto Anemia hemolítica autoimune, tipo misto Anemia hemolítica autoinmune tipo mixto Anämie, autoimmun-hämolytische, gemischter Typ Anémie hémolytique auto-immune mixte Mixed-type autoimmune hemolytic anemia hrdo:pat_id_11934 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(autoimmune+hemolytic+anemia%5Bti%5D+drug+induced%5Btw%5D)+OR+Anemia,+Hemolytic,+Autoimmune%2Fci D59.0 90037 309742004 C0391817 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 AHAI inducida por medicamentos AIHA farmaco-indotta AIHA inducida por medicamentos AIHA induite par les médicaments Drug-induced AIHA Anemia emolitica autoimmune farmaco-indotta Anemia hemolítica autoimune induzida por fármacos Anemia hemolítica autoinmune inducida por medicamentos Anämie, autoimmun-hämolytische, Medikamenten-induzierte Anémie hémolytique auto-immune induite par les médicaments Drug-induced autoimmune hemolytic anemia hrdo:pat_id_11935 235400 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Hemolytic+uremic+syndrome+(typical+OR+Escherichia+coli%5Bmh%5D+OR+e+coli%5Btw%5D+OR+Shiga+Toxins) D59.3 90038 disease D+HUS D+HUS D+HUS D+HUS D+SHU HUS associata alla tossina Shiga-simile Hemolytic-uremic syndrome with diarrhea Hämolytisch-urämisches Syndrom mit Diarrhoe SHU D+ SHU asociado a toxinas tipo Shiga SHU associé aux toxines Shiga-like SHU typique Shiga-like toxin-associated HUS Shiga-ähnliches Toxin-assoziierte HUS Sindrome emolitico-uremica con diarrea Sxt-HUS Sxt-HUS Sxt-HUS Sxt-SHU Syndrome hémolytique-urémique avec diarrhée Síndrome hemolítico-urémico con diarrea Typical HUS Hämolytisch-urämisches Syndrom, typisches Sindrome emolitico-uremica tipica Syndrome hémolytique-urémique typique Síndrome hemolítico-urémico típico Síndrome hemolítico-urémico, típico Typical hemolytic uremic syndrome hrdo:pat_id_11936 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 10055019 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Hemoglobin+D%5Btiab%5D+OR+haemoglobin+D%5Btiab%5D+OR+hb+d%5Btiab%5D)+(disease+OR+hemoglobinopathies) D58.2 90039 66729008 C0272080 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Doença da hemoglobina D Emoglobinopatia D Enfermedad de la hemoglobina D Hemoglobin D disease Hämoglobin-D-Krankheit Hémoglobinose D hrdo:pat_id_11937 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 10042217 10053885 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Gaisbock+syndrome%5Btw%5D+OR+stress+polycythemia%5Btw%5D D75.1 90041 36874002 48250002 C0541719 C2242785 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Eritrocitosi da stress Erythrocytose liée au stress Policitemia da stress Polycythémie liée au stress Stress erythrocytosis Stress polycythemia Stress-Erythrozytose Stress-Polyzythämie Gaisböck syndrome Gaisböck-Syndrom Sindrome di Gaisbock Syndrome de Gaisböck Síndrome de Gaisbock Síndrome de Gaisbock hrdo:pat_id_11938 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 133100 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Erythrocytosis%5Bti%5D+OR+polycythemia%5Bmh%5D)+(familial%5Bti%5D+OR+primary%5Bti%5D) D75.0 90042 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Congenital erythrocytosis due to erythropoietin receptor mutation Congenital polycythemia due to erythropoietin receptor mutation Eritrocitosi congenita da mutazione del recettore dell'eritropoietina Eritrocitosi familiare Eritrocitosi primitiva congenita Eritrocitosis congénita por mutación del receptor de la eritropoyetina Eritrocitosis familiar Erythrocytose congénitale due à une mutation du récepteur de l'érythropoïétine Erythrocytose congénitale primitive Erythrocytose familiale Erythrozytose, familiäre Erythrozytose, kongenitale primäre Familial erythrocytosis PFCP PFCP PFCP Policitemia congenita da mutazione del recettore dell'eritropoietina Policitemia congénita por mutación del receptor de la eritropoyetina Policitemia primitiva familiare e congenita Polycythémie congénitale due à une mutation du récepteur de l'érythropoïétine Polycythémie primaire congénitale familiale Primary congenital erythrocytosis Primary familial and congenital polycythemia Primäre familiäre und kongenitale Polyzythämie Policitemia primaria familiar Policitemia primitiva familiare Policitemia primária familiar Polycythémie primaire familiale Polyzythämie, familiäre primäre Primary familial polycythemia hrdo:pat_id_11939 177720 185020 609153 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Pseudohyperkalaemia+OR+pseudohyperkalemia)+(familial+OR+hereditary+OR+genetics) D58.8 90044 disease Familial pseudohyperkalemia Pseudo-hipercaliemia familiar Pseudohiperpotasemia familiar Pseudohyperkaliämie, familiäre Pseudohyperkaliémie familiale Pseudoiperkaliemia familiare hrdo:pat_id_1194 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Muscular+dystrophy+white+matter+spongiosis G71.2 1877 disease Distrofia muscolare sostanza bianca cerebrale sponfiosa Distrofia muscular com espongiose da substância branca Distrofia muscular sustancia blanca cerebral esponjosa Dystrophie musculaire - substance blanche cérébrale spongieuse Muscular dystrophy - white matter spongiosis Muskeldystrophie - Spongiosis der weissen Gehirnmasse hrdo:pat_id_11940 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 229050 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Malabsorption+Syndromes%5Bmh%3Anoexp%5D+folic+acid+OR+Folate+malabsorption%5Btw%5D)+(congenital+OR+hereditary+OR+familial+OR+ge%5Bsh%5D) D52.8 90045 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Congenital folate malabsorption Folat-Malabsorption, kongenitale Malabsorción de folato, congénita Malabsorption congénitale de l'acide folique Malassorbimento congenito di folato Folat-Malabsorption, hereditäre Hereditary folate malabsorption Malabsorción de folato, hereditaria Malabsorption de l'acide folique héréditaire Malassorbimento ereditario di folato Má absorção de folato, hereditária hrdo:pat_id_11941 133780 D012178 10038933 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=retinopathy+of+prematurity%5Bti%5D+OR+retinopathy+of+prematurity%5Bmh%5D H35.1 90050 415297005 C0035344 disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Frühgeborenen-Retinopathie Retinopathy of prematurity Retinopatia da prematuridade Retinopatia della prematurità Retinopatía del prematuro Rétinopathie du prématuré hrdo:pat_id_11942 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Late+onset+sepsis%5Btw%5D+premature+infants+OR+(Infant,+Premature,+Diseases%5Bmajr%3Anoexp%5D+sepsis%5Bmajr%3Anoexp%5D+late+onset%5Btw%5D) P36 90051 particular clinical situation in a disease or syndrome 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Sepsi nei neonati prematuri Sepsis chez le nouveau-né prématuré Sepsis en neonatos prematuros Sepsis in premature infants Spät einsetzende Form der Sepsis bei Frühgeborenen Sépsis de apresentação tardia em lactentes prematuros hrdo:pat_id_11943 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Recurrent+OR+chronic)+virus+hepatitis+C++Liver+Transplantation%2Fae 90052 particular clinical situation in a disease or syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Doença hepática recorrente induzida pelo vírus da Hepatite C em recetores de transplante hepático Enfermedad hepática por recurrencia del virus de la hepatitis C en trasplantados hepáticos Epatiti ricorrenti da virus dell'epatite C nei pazienti trapiantati di fegato Manifestations hépatiques récurrentes causées par le virus de l'hépatite C chez les transplantés hépatiques Recurrent hepatitis C virus induced liver disease in liver transplant recipients Rekurrente Hepatitis-C-Viren induzierte Lebererkrankung bei Lebertransplantierten hrdo:pat_id_11944 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Hematopoietic%5Bti%5D+cell+transplantation%5Btw%5D Z94.8 90053 particular clinical situation in a disease or syndrome 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Hematopoietic stem cell transplantation Hämatopoetische Zelltransplantation Transplantation de cellules souches hématopoïétiques Transplantação de células hematopoiéticas Trapianto di cellule staminali ematopoietiche Trasplante de células hematopoyéticas hrdo:pat_id_11946 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Graft+Rejection+(Corneal+Transplantation+OR+corneal+transplant%5Btw%5D) T86.8 90055 particular clinical situation in a disease or syndrome 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Rechazo tras trasplante de córnea Rejection after corneal transplantation Rejeição após transplante de córnea Rejet d'une transplantation cornéenne Rigetto del trapianto corneale Transplantatabstoßung nach Hornhaut-Transplantation hrdo:pat_id_11947 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(trauma%5Btw%5D+OR+traumatic*)+(brain+injury%5Bti%5D+OR+brain+injuries%5Bmajr%3Anoexp%5D)+humans S06 90056 particular clinical situation in a disease or syndrome 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Daño cerebral traumático de moderado a grave Lesioni cerebrali traumatiche moderate e gravi Lesão cerebral traumática moderada a grave Lésion traumatique modérée ou sévère du cerveau Mittelschweres und schweres Schädel-Hirntrauma Moderate and severe traumatic brain injury hrdo:pat_id_11949 10041552 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(trauma%5Btiab%5D+OR+Traumatic*)+(spinal+cord+injury%5Bti%5D+OR+spinal+cord+injuries%5Bmajr%5D)+humans T09.3 90058 90584004 particular clinical situation in a disease or syndrome 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Daño de la médula espinal Lesione del midollo spinale Lesão traumática da medula espinhal Lésion de la moelle épinière Rückenmarksverletzung Spinal cord injury hrdo:pat_id_1195 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 254110 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%28muscular+dystroph*%5BTw%5D+OR+muscular+dystrophies%5BMH%5D%29+%28IIh%5Btw%5D+OR+2h%5Btw%5D%29%29+OR+LGMD2h%5Btw%5D G71.0 1878 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Distrofia muscolare dei cingoli da deficit di TRIM32 Distrofia muscular das cinturas por deficiência de TRIM32 Distrofia muscular de cinturas autosómica recesiva por déficit TRIM32 Dystrophie musculaire des ceintures par déficit en TRIM32 Gliedergürtelmuskeldystrophie durch TRIM32-Mangel LGMD2H LGMD2H LGMD2H LGMD2H LGMD2H Limb-girdle muscular dystrophy due to TRIM32 deficiency Autosomal recessive limb-girdle muscular dystrophy type 2H Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2H Distrofia muscular das cinturas autossómica recessiva tipo 2H Distrofia muscular de cinturas autosómica recesiva tipo 2H Dystrophie musculaire des ceintures autosomique récessive type 2H Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2H hrdo:pat_id_11950 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=hearing+loss+(acoustic+trauma+OR+noise+induced%5Btw%5D) H83.3 90059 particular clinical situation in a disease or syndrome 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma Akuter sensorineuraler Hörverlust durch akustisches Trauma oder Hörsturz oder operationsbedingten Hörverlust Perdita dell'udito neurosensoriale acuta da trauma acustico acuto o sordità improvvisa o trauma acustico dovuto ad un intervento chirurgico Perte auditive neurosensorielle aiguë par trauma sonore aigu, surdité brutale ou trauma sonore par chirurgie Pérdida de audición sensorineural a causa de trauma acústico grave o sordera repentina, o por trauma acústico inducido por cirugía Surdez neurossensorial aguda por trauma acústico agudo ou por surdez súbita ou por trauma acústico induzido por cirurgia hrdo:pat_id_11951 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(alveolar+haemorrhage%5Btw%5D+OR+alveolar+hemorrhage%5Btw%5D)+diffuse+alveolar%5Btw%5D J98.4 90060 particular clinical situation in a disease or syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Diffuse alveolar hemorrhage Emorragia alveolare diffusa Hemorragia alveolar difusa Hemorragia alveolar difusa Hämorrhagie, alveoläre diffuse Hémorragie alvéolaire diffuse hrdo:pat_id_11952 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=non+infectious%5Btw%5D+posterior%5Bti%5D+uveitis%5Bti%5D+OR+(uveitis,+posterior%5Bmajr%5D+NOT+(infection+OR+virus+OR+Bacterial+Infections)) H30.0 H30.1 90061 group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Choroidite non infectieuse Coroidite non infettiva Coroiditis no infecciosa Non-infectious choroiditis Non-infectious posterior uveitis Uveite posteriore non infettiva Uveitis, nicht-infektiöse des hinteren Augensegmentes Uveíte não-infecciosa afetando o segmento posterior do olho Uveítis posterior no infecciosa Uvéite postérieure non infectieuse hrdo:pat_id_11953 D017114 10000804 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Acute+liver+failure%5Bti%5D+OR+Liver+Failure,+Acute%5Bmajr%3Anoexp%5D K72.0 90062 197270009 C0162557 particular clinical situation in a disease or syndrome 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Acute hepatic failure Acute liver failure Fallo hepático agudo Insufficienza epatica acuta Insuffisance hépatique aiguë Insuficiência hepática aguda Leberversagen, akutes hrdo:pat_id_11955 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Acute+peripheral+(arter*%5Bti%5D+occlusi*%5Bti%5D+OR+Arterial+Occlusive+Diseases%5Bmajr%3Anoexp%5D) I74.4 90064 particular clinical situation in a disease or syndrome 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Acute peripheral arterial occlusion Akuter peripherer Arterienverschluss Occlusion artérielle périphérique aiguë Occlusione arteriosa periferica acuta Oclusión arterial periférica aguda Oclusão arterial periférica aguda hrdo:pat_id_11956 105800 611892 612587 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Aneurysm*+(subarachnoid+haemorrhage%5Bti%5D+OR+subarachnoid+hemorrhage%5Bti%5D+OR+subarachnoid+hemorrhage%5Bmh%5D)+OR+aneurysmal+SAH%5Btw%5D I60.9 90065 disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Acquired aneurysmal subarachnoid hemorrhage Aneurysmatische Subarachnoidalblutung Emorragia subaracnoidea aneurismatica acquisita Hemorragia subaracnoidea aneurismática adquirida Hemorragia subaracnóidea aneurismática Hémorragie subarachnoïdienne par rupture d'anévrysme acquise hrdo:pat_id_11957 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Pneumonia%5Bti%5D+OR+pneumonia%5Bmh%5D)+((11%5Btiab%5D+Epitopes)+OR+O11+OR+Oii+OR+O+antigen)+aeruginosa+ J15.1 90066 particular clinical situation in a disease or syndrome 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Neumonía causada por infección por pseudomonas aeruginosa Pneumonia caused by Pseudomonas aeruginosa infection Pneumonia por Pseudomonas aeruginosa serótipo O11 Pneumonie due à une infection à Pseudomonas aeroginosa Pneumonie durch Pseudomonas aeruginosa Serotyp O11 Polmonite dovuta a infezione da Pseudomonas aeruginosa hrdo:pat_id_11959 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Cocaine%2Fpo+OR+(intoxication%5Bti%5D+OR+poisoning%5Bti%5D)+cocaine%5Bti%5D T40.5 90068 disease Cocaine poisoning Empoisonnement à la cocaïne Envenenamento por cocaína Intossicazione da cocaina Intoxicación por cocaína Kokain-Vergiftung hrdo:pat_id_11960 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(chloroacetic+acid+OR+monochloroacet*)+Acetic+Acids%2Fpo+humans T60.3 90069 disease Avvelenamento sistemico da monocloroacetato Envenenamento sistémico por monocloroacetato Intoxicación sistémica por monocloroacetato Intoxication systémique au monochloroacétate Monochloracetat-Vergiftung, systemische Systemic monochloroacetate poisoning hrdo:pat_id_11961 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Methotrexate%2Fto%5Bmajr%5D+OR+Methotrexate%2Fpo%5Bmajr%5D+OR+Methotrexate%2Fae%5Bmajr%5D)+humans T45.1 90070 particular clinical situation in a disease or syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Intossicazione da metotrexato Intoxicación por metotrexato Methotrexate intoxication Avvelenamento da metotrexato Envenenamiento por metotrexato Intoxication au methotrexate Methotrexat-Toxizität Methotrexate poisoning Toxicidade por metotrexato hrdo:pat_id_11964 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=hepatitis+b+reinfection+liver+transplantation 90073 particular clinical situation in a disease or syndrome Hepatitis B re-infection following liver transplantation Hepatitis-B-Reinfektion nach Lebertransplantation Nuova infezione da epatite B dopo trapianto del fegato Re-infeção de hepatite B após transplante hepático Reinfección por hepatitis B después de trasplante hepático Ré-infection par l'hépatite B après transplantation hépatique hrdo:pat_id_11967 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=full+thickness%5Btw%5D+(deep+partial%5Btw%5D+OR+deep+dermal%5Btw%5D)+(burn%5Bti%5D+OR+burns)+(humans+OR+patients) T30.3 90076 particular clinical situation in a disease or syndrome 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Brûlure profonde du deuxième degré et brûlure du troisième degré Partial deep dermal and full thickness burns Queimaduras de segundo e terceiro grau Quemaduras de segundo y tercer grado Thermische Verletzungen/Verbrennungswunden des Grades IIB und III Ustioni parziali di secondo e terzo grado hrdo:pat_id_11968 90077 group of phenomes Altre malattie cutanee acquisite Autre maladie dermatologique acquise Doença de pele não-genética, outra Hautkrankheiten, erworbene, sonstige Other acquired skin disease Otras enfermedades dermatológicas adquiridas hrdo:pat_id_11969 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=((Vancomycin+Resistance+OR+Vancomycin+Resistant%5Btw%5D)+(enterococci%5Bti%5D+OR+Enterococcus)+invasi* A04.8 U81.0 90078 particular clinical situation in a disease or syndrome Invasive infections due to VRE Infecciones invasivas provocadas por enterococos resistentes a vancomicina (ERV) Infection invasive par entérocoques résistants à la vancomycine Infezioni invasive da enterococco resistente alla vancomicina (VRE) Infeções invasivas provocadas por enterococos resistentes à vancomicina (VRE) Invasive Infektionen durch Vancomycin-resistente Enterokokken (VRE) Invasive infections due to Vancomycin Resistant Enterococci hrdo:pat_id_11970 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Anthracycline+extravasation Y43.2 90079 particular clinical situation in a disease or syndrome 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Anthracyclin-induzierte Extravasation Anthracycline extravasations Extravasaciones de antraciclina Extravasamento de antraciclina Extravasation d'anthracycline Stravasi da antraciclina hrdo:pat_id_11971 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(wound+healing+OR+scar+OR+Scarring)+(glaucoma+filtration%5Btw%5D+OR+(glaucoma+Filtering+Surgery))+(humans+OR+patients+OR+clinical) H59.8 90080 particular clinical situation in a disease or syndrome 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Cicatrisation post-chirurgicale du glaucome Cicatrización tras cirugía de filtración de glaucoma Cicatrização pós-cirurgia filtrante do glaucoma Cicatrizzazione postchirurgica del glaucoma Scarring in glaucoma filtration surgical procedures Vernarbung nach filtrierender Glaukomchirurgie hrdo:pat_id_11972 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=AIDS+wasting+syndrome B22.2 90081 particular clinical situation in a disease or syndrome 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 AIDS wasting syndrome AIDS-Wasting-Syndrom Etat de cachexie lié au sida Sindrome da deperimento da AIDS Síndrome de caquexia associada à SIDA Síndrome de desgaste asociado al SIDA hrdo:pat_id_11973 214370 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Charcot-Marie-Tooth+(hearing+loss+OR+deafness)+mental+retardation G60.0 90103 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Hereditary motor and sensory neuropathy with deafness, intellectual deficit and absent sensory large myelinated fibers Neuropathie héréditaire avec surdité, déficit intellectuel et absence de fibres sensitives myélinisées de gros calibres Neuropathie, hereditäre motorisch-sensorische mit Taubheit, geistiger Retardierung und fehlenden sensiblen großen markhaltigen Nervenfasern Neuropatia motoria e sensitiva ereditaria associata a sordità, ritardo mentale e assenza di fibre mielinizzate sensitive di grandi dimensioni Charcot-Marie-Tooth disease - deafness - intellectual deficit Charcot-Marie-Tooth-Krankheit - Sensorineurale Schwerhörigkeit - geistige Retardierung Doença de Charcot-Marie-Tooth - surdez - atraso mental Enfermedad de Charcot-Marie-Tooth - sordera - déficit intelectual Maladie de Charcot-Marie-Tooth - surdité - déficit intellectuel Malattia di Charcot-Marie-Tooth - sordità - ritardo mentale hrdo:pat_id_11977 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(intermediate+form*%5Btw%5D+OR+dominant+intermediate%5Btw%5D+OR+intermediate+CMT%5Btw%5D)+charcot-marie-tooth+ G60.0 90114 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate group of phenomes CMT-DI DI-CMT DI-CMT DI-CMT Autosomal dominant intermediate Charcot-Marie-Tooth disease Charcot-Marie-Tooth-Krankheit, dominant-intermediärer Typ Doença de Charcot-Marie-Tooth dominante, forma intermédia Enfermedad de Charcot-Marie-Tooth, tipo dominante-intermedia Maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante Malattia di Charcot-Marie-Tooth, forma dominante-intermedia hrdo:pat_id_11978 604484 C535717 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Hereditary+Motor+and+Sensory+Neuropathies+OR+hereditary+motor+sensory+neuropathy)+(Okinawa+OR+3q13.1+OR+proximal+type%5Btw%5D) G60.0 90117 C1858338 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown HMSNP HMSNP HMSNP HMSNP Hereditary motor and sensory neuropathy, proximal type Neuropathie sensorimotrice proximale familiale Neuropathie, hereditäre motorisch-sensorische, proximaler Typ Neuropatia sensitivo-motoria ereditaria, tipo prossimale Neuropatía hereditaria motora y sensorial, de tipo proximal Hereditary motor and sensory neuropathy, Okinawa type Neuropathie sensitivo-motrice familiale type Okinawa Neuropathie, hereditäre motorisch-sensorische, Typ Okinawa Neuropatia hereditária motora e sensitiva, tipo Okinawa Neuropatia sensitivo-motoria ereditaria, tipo Okinawa Neuropatía hereditaria motora y sensorial, de tipo Okinawa hrdo:pat_id_11979 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Charcot-Marie-Tooth+disease+(Ouvrier%5Btw%5D+OR+ouvrier%5B1au%5D) G60.0 90118 disease Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type Enfermedad de Charcot-Marie-Tooth autosómica recesiva, tipo Ouvrier Maladie de Charcot-Marie-Tooth autosomique récessive type Ouvrier Neuropatía axonal grave de aparición temprana por deficiencia de MFN2 SEOAN due to MFN2 deficiency SEOAN par déficit en MFN2 SEOAN por deficiencia de MFN2 SEOAN por déficit de MFN2 Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, Typ Ouvrier Doença de Charcot-Marie-Tooth autossómica recessiva, tipo Ouvrier Malattia di Charcot-Marie-Tooth, autosomica recessiva, tipo Ouvrier Neuropathie axonale sévère précoce par déficit en MFN2 Neuropatía axonal grave de aparición temprana por déficit de MFN2 Severe early-onset axonal neuropathy due to MFN2 deficiency hrdo:pat_id_1198 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 226750 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28epilepsy[mh]+OR+epilepsy[ti]+OR+seizure*[ti]%29+%28amelogenesis+imperfecta[mh]+OR+amelogenesis+imperfecta[ti]%29+OR+Kohlschutter[ti] G40.8 1946 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Amelo cerebro hipohidrótico síndrome Epilepsia - demência - amelogénese imperfeita Epilepsie - Demenz - Amelogenesis imperfecta Epilepsie - démence - amélogenèse imparfaite Epilepsy - dementia - amelogenesis imperfecta Epilessia - demenza - amelogenesi imperfetta Kohlschutter-Tonz syndrome Kohlschutter-Tonz, síndrome de Kohlschütter-Tonz-Syndrom Sindrome di Kohlschutter-Tonz Syndrome de Kohlschutter-Tonz Síndrome de Kohlschutter Tonz Síndrome de Kohlschutter-Tonz Amelo-cerebro-hypohidrotic syndrome Amelo-zerebro-hypohidrotisches Syndrom Epilepsia demencia amelogenesis imperfecta Sindrome amelo-cerebro-ipoidrotica Syndrome amélo-cérébro-hypohidrotique Síndrome amelo-cerebro-hipoidrótico hrdo:pat_id_11980 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Hereditary+Motor+and+Sensory+Neuropathies+acrodystrophy G60.0 90119 disease Axonal Charcot-Marie-Tooth disease with acrodystrophy Axonale Charcot-Marie-Tooth-Krankheit mit Akrodystrophie Charcot-Marie-Tooth axonal con acrodistrofia Charcot-Marie-Tooth, axonal, com acrodistrofia Maladie de Charcot-Marie-Tooth axonale avec acrodystrophie Malattia di Charcot-Marie-Tooth con acrodistrofia, forma assonale hrdo:pat_id_11981 601152 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(%22Charcot+Marie%22+OR+HMSN%5Bmh%3Anoexp%5D)+((optic%5Bti%5D+atroph*%5Bti%5D)+OR+type+vi%5Btw%5D+OR+type+6%5Btw%5D+OR+%22HMSN+VI%22) G60.0 90120 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease CMT6 CMT6 CMT6 CMT6 CMT6 Charcot-Marie-Tooth tipo 6 Charcot-Marie-Tooth type 6 Charcot-Marie-Tooth-Krankheit Typ 6 Maladie de Charcot-Marie-Tooth type 6 Malattia di Charcot-Marie-Tooth, tipo 6 Neuropathie périphérique et atrophie optique Neuropatia periferica e atrofia ottica Neuropatía periférica y atrofia óptica Peripheral neuropathy and optic atrophy Periphere Neuropathie und Optikusatrophie Hereditary motor and sensory neuropathy type 6 Neuropathie sensitivo-motrice héréditaire type 6 Neuropathie, hereditäre motorisch-sensorische, Typ 6 Neuropatia motora e sensitiva, hereditária, tipo 6 Neuropatia sensitivo-motoria ereditaria, tipo 6 Neuropatía motora y sensorial hereditaria, tipo 6 hrdo:pat_id_11984 248370 C535705 neant Q87.5 90153 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Displasia mandiboloacrale con lipodistrofia, tipo A Displasia mandibuloacral com lipodistrofia tipo A Displasia mandíbuloacra con lipodistrofia tipo A Dysplasie mandibulo-acrale avec lipodystrophie de type A Dysplasie, mandibulo-akrale, mit Typ A-Lipodystrophie Mandibuloacral dysplasia with type A lipodystrophy hrdo:pat_id_11985 608612 C535706 neant Q87.5 90154 C1837756 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Displasia mandiboloacrale con lipodistrofia, tipo B Displasia mandibuloacral com lipodistrofia tipo B Displasia mandíbuloacra con lipodistrofia tipo B Dysplasie mandibulo-acrale avec lipodystrophie de type B Dysplasie, mandibulo-akrale, mit Typ B-Lipodystrophie Mandibuloacral dysplasia with type B lipodystrophy hrdo:pat_id_11986 90156 disease Centrifugal lipodystrophy Lipodistrofia centrifuga Lipodistrofia centrífuga Lipodistrofia centrífuga Lipodystrophie centrifuge Zentrifugal-Lipodystrophie hrdo:pat_id_11987 neant E88.1 90157 disease Drug-induced localized lipodystrophy Lipodistrofia localizada inducida por drogas Lipodistrofia localizada induzida por fármacos Lipodistrofia localizzata da farmaci Lipodystrophie localisée médicamenteuse Lipodystrophie, lokale, Drogen-induzierte hrdo:pat_id_11988 90158 disease Idiopathic localized lipodystrophy Lipodistrofia idiopática localizada Lipodistrofia localizada idiopática Lipodistrofia localizzata idiopatica Lipodystrophie localisée idiopathique Lipodystrophie, lokale, idiopathische hrdo:pat_id_11989 90159 disease Lipodystrophie localisée et panniculite Paniculite e lipodistrofia localizada Paniculitis y lipodistrofia localizada Pannicolite e lipodistrofia localizzata Panniculitis and localized lipodystrophy Pannikulitis und lokale Lipodystrophie hrdo:pat_id_1199 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601352 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=mental+retardation+microcephaly+epilepsy+coarse+face+skeletal 1948 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Battaglia-Neri syndrome Battaglia-Neri-Syndrom Battaglia-Nerix , síndrome de Sindrome di Battaglia-Neri Syndrome de Battaglia-Neri Síndrome de Battaglia-Neri Síndrome de Battaglia-Nerix Epilepsia - microcefalia - displasia esquelética Epilepsia - microcefalia - displasia óssea Epilepsie - Mikrozephalie - Skelettdysplasie Epilepsie - microcéphalie - dysplasie squelettique Epilepsy - microcephaly - skeletal dysplasia Epilessia - microcefalia - displasia scheletrica hrdo:pat_id_11990 90160 disease Lipoatrofia localizada provocada por presión Lipoatrofia localizzata dovuta alla pressione Lipoatrophie localisée due à la pression Lipodistrofia localizada induzida por pressão Lipodystrophie, lokale, Druck-induzierte Pressure-induced localized lipoatrophy hrdo:pat_id_11992 neant I89.0 90185 disease Enfermedad tipo Meige Maladie de Meige-like Malattia Meige-simile Meige-like disease Meige-ähnliche Krankheit Linfedema primario de aparición tardía no hereditario Linfedema primitivo non ereditario a esordio tardivo Linfedema tardio esporádico Lymphoedème primaire tardif non héréditaire Lymphödem primäres, mit spätem Beginn, nicht-hereditär Non hereditary late-onset primary lymphedema hrdo:pat_id_11993 153200 neant I89.0 90186 disease Hereditary lymphedema type II Linfedema de Meige Linfedema di Meige Linfedema ereditario, tipo II Linfedema hereditario tipo II Lymphedème de Meige Lymphoedème héréditaire type II Lymphödem, hereditäres, Typ II Meige lymphedema Meige-Lymphödem Doença de Meige Enfermedad de Meige Maladie de Meige Malattia di Meige Meige disease Meige-Krankheit hrdo:pat_id_11994 610448 614415 C535924 neant L93.2 90280 238928005 72470008 C0024145 disease Chilblain lupus Chilblain-Lupus Lupus gelone Lupus sabañón Lupus érythémateux de type ''chilblain lupus''' Lúpus pérnio hrdo:pat_id_11995 D008179 10013072 neant L93.0 90281 200938002 238927000 C0024138 disease Discoid lupus erythematosus Lupus discoide eritematoso Lupus discoide eritematoso Lupus erythematodes, diskoider Lupus érythémateux discoïde Lúpus eritematoso discóide hrdo:pat_id_11996 neant L93.2 90282 disease Hypertrophic or verrucous lupus erythematosus Lupus eritematoso hipertrófico o verrucoso Lupus eritematoso ipertrofico o verrucoso Lupus erythematosus, hypertropher oder verruköser Lupus érythémateux verruqueux ou hypertrophique Lúpus eritematoso hipertrófico ou verrucoso hrdo:pat_id_11997 neant L93.2 90283 200941006 C0406636 disease Lupus eritematoso tumidus Lupus erythematodes tumidus Lupus erythematosus tumidus Lupus tumidus Lupus tumidus eritematoso Lúpus eritematoso túmido hrdo:pat_id_11998 D015435 neant L93.2 90285 15084002 239888002 C0030327 disease Lupus eritematoso profondo Lupus eritematoso profundo Lupus erythematodes profundus Lupus erythematosus profundus Lupus érythémateux profond Lupus eritematoso - panniculite Lupus eritematoso paniculitis Lupus erythematosus panniculitis Lupus-Pannikulitis Lúpus eritematoso paniculite Panniculite lupique hrdo:pat_id_11999 neant L93.2 90287 disease Eritema maculo-papulare del lupus Erupção de lúpus maculopapular Lupus con erupción maculopapular Maculopapular lupus rash Makulopapulärer 'Lupus Rash' Rash lupique maculo-papuleux hrdo:pat_id_12 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 228000 C537075 D055577 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Farber%5Btw%5D+%28lipogranulomatos*%5Btw%5D+OR+lysosomal+storage+dis*%5Ball%5D+OR+lipid+metabolism%2C+inborn+errors%5Bmh%5D%29 E75.2 333 79935000 C0268255 C2936785 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Ceramidase deficiency Ceramidase, deficiência de Deficiencia de ceramidasa Deficit di ceramidasi Deficiência de ceramidase Déficit de ceramidasa Déficit en céramidase Enfermedad de Farber Farber disease Farber-Krankheit Malattia di Farber Farber lipogranulomatosis Farber-Lipogranulomatose Lipogranulomatose de Farber Lipogranulomatosi di Farber Lipogranulomatosis de Farber Maladie de Farber hrdo:pat_id_120 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 300624 D005600 10017324 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22fragile+x+syndrome%22%5BMeSH+Terms%5D+OR+Fragile+X+syndrome%5BText+Word%5D Q99.2 908 254287005 613003 C0016667 C0751156 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant malformation syndrome 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 FRAXA syndrome FRAXA-Syndrom FXS FXS FXS FXS FXS Fra(X)-Syndrom Fra-X, síndrome de FraX syndrome Martin-Bell syndrome Martin-Bell-Syndrom Sindrome FRAXA Sindrome FraX Sindrome di Martin-Bell Syndrome FRAXA Syndrome FraX Syndrome de Martin-Bell Síndrome FRAXA Síndrome FraX Síndrome de Fra-X Síndrome de Martin-Bell Fragile X syndrome Fragiles X-Syndrom Sindrome dell'X fragile Syndrome de l'X fragile Síndrome de X frágil Síndrome de X-frágil hrdo:pat_id_12000 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável D012594 10039712 neant L94.0 90289 201048007 C0036420 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Esclerodermia localizada Localized fibrosing scleroderma Morfea Morphea Sclerodermia fibrosante localizzata Sklerodermie, lineare zirkumskripte Esclerodermia localizada Esclerodermia localizada Localized scleroderma Sclerodermia localizzata Sclérodermie localisée Sklerodermie, zirkumskripte hrdo:pat_id_12001 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 181750 D017675 10011380 neant M34.1 90290 31848007 C0206138 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Calcinose - maladie de Raynaud - troubles moteurs oesophagiens - sclérodactylie - télangiectasie Calcinosis - Raynaud phenomenon - esophageal involvement - sclerodactyly - telangiectasia Calcinosis - fenómeno de Raynaud - afectación esofágica - esclerodactilia - telangiectasia Calzinosis - Raynaud Phänomen - ösophageale Dysfunktion - Sklerodaktylie - Telangiektasie CREST syndrome CREST-Syndrom Sindrome CREST Syndrome CREST Síndrome CREST Síndrome CREST (calcinose - fenómeno de Raynaud - envolvimento esofágico - esclerodactilia - telangiectasia hrdo:pat_id_12002 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 181750 10042953 neant M34 90291 89155008 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Esclerosis sistémica Sklerose, systemische Systemic scleroderma Esclerodermia sistémica Esclerodermia sistémica (esclerose sistémica) Sclerosi sistemica Sclérodermie systémique Systemic sclerosis Systemische Sklerodermie hrdo:pat_id_12003 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 200170 neant 90301 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acanthosis nigricans - Insulin resistance - muscle cramps - acral enlargement Acanthosis nigricans - Insulinresistenz - Muskelkrämpfe - Akrenvergrößerung Acanthosis nigricans - resistenza all'insulina - crampi muscolari - ingrossamento delle estremità Acanthosis nigricans - résistance à l'insuline - crampes - hypertrophie acrale Acantose nigricans - resistência à insulina - cãimbras musculares - alargamento acral Acantosis nigricans - calambres musculares - engrosamiento acro hrdo:pat_id_12004 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 608355 neant Q87.2 90307 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype Parkes Weber syndrome Parkes-Weber-Syndrom Sindrome di Parkes Weber Syndrome de Parkes Weber Síndrome de Parkes Weber Síndrome de Parkes-Weber hrdo:pat_id_12005 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 149000 10051452 neant Q87.2 90308 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype Klippel-Trenaunay syndrome Klippel-Trenaunay-Syndrom Sindrome di Klippel-Trenaunay Syndrome de Klippel-Trenaunay Síndrome de Klippel-Trenaunay Síndrome de Klippel-Trenaunay hrdo:pat_id_12006 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 130000 C536194 neant Q79.6 90309 83470009 C0268335 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate etiological subtype 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 EDS I EDS I SED I Ehlers-Danlos syndrome type 1 Ehlers-Danlos-Syndrom Typ 1 Sindrome di Ehlers-Danlos, tipo 1 (EDS I) Syndrome d'Ehlers-Danlos type 1 Síndrome de Ehlers-Danlos tipo 1 Síndrome de Ehlers-Danlos tipo 1 (EDS I) hrdo:pat_id_12007 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 130010 C536195 neant Q79.6 90318 20766005 C0268336 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate etiological subtype EDS II EDS II SED II Ehlers-Danlos syndrome type 2 Ehlers-Danlos-Syndrom Typ 2 Sindrome di Ehlers-Danlos, tipo 2 Syndrome d'Ehlers-Danlos type 2 Síndrome de Ehlers-Danlos tipo 2 Síndrome de Ehlers-Danlos tipo 2 (EDS II) hrdo:pat_id_12008 133540 216400 neant Q87.8 90321 C0751039 clinical subtype Cockayne syndrome type 1 Cockayne-Syndrom Typ 1 Sindrome di Cockayne, tipo 1 Syndrome de Cockayne type 1 Síndrome de Cockayne tipo 1 Síndrome de Cockayne tipo 1 hrdo:pat_id_12009 133540 216400 neant Q87.8 90322 C0751038 clinical subtype Cockayne syndrome type 2 Cockayne-Syndrom Typ 2 Sindrome di Cockayne, tipo 2 Syndrome de Cockayne type 2 Síndrome de Cockayne tipo 2 Síndrome de Cockayne tipo 2 hrdo:pat_id_1201 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 226850 C535497 G40.8 1951 C1856929 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Epilepsia - telangiectasia Epilepsie - Telangiektasie Epilepsie - télangiectasie Epilepsy telangiectasia Epilessia - telangectasia Telangiectasia epiléptica hrdo:pat_id_12010 133540 216400 216411 neant Q87.8 90324 C0751037 clinical subtype Cockayne syndrome type 3 Cockayne-Syndrom Typ 3 Sindrome di Cockayne, tipo 3 Syndrome de Cockayne type 3 Síndrome de Cockayne tipo 3 Síndrome de Cockayne tipo 3 hrdo:pat_id_12016 90338 malformation syndrome Displasia ectodermica dell'isola Margarita Displasia ectodérmica tipo ilha Margarita Displasia ectodérmica, tipo isla Margarita Dysplasie ectodermique type île Margarita Dysplasie, ektodermale, Typ Margarita Island Margarita island ectodermal dysplasia hrdo:pat_id_12017 225000 neant 90339 C0796139 malformation syndrome Rosselli-Gulienetti syndrome Rosselli-Gulienetti-Syndrom Sindrome di Rosselli-Gulienetti Syndrome de Rosselli-Gulienetti Síndrome de Rosselli-Gulienetti Síndrome de Rosselli-Gulienetti hrdo:pat_id_12018 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 186580 neant 90340 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sarkoidose, familiäre Form Blau syndrome Blau-Syndrom Sindrome di Blau Syndrome de Blau Síndrome de Blau Síndrome de Blau hrdo:pat_id_12019 609464 neant D86 90341 disease Early-onset sarcoidosis Sarcoidose de início precoce Sarcoidosi a esordio precoce Sarcoidosis de inicio temprano Sarcoïdose à début précoce Sarkoidose, früh beginnende hrdo:pat_id_12020 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 278750 C536766 neant Q82.1 90342 88877002 C0432328 C1848410 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 XPV XPV Variante de xeroderma pigmentosum (XPV) Xeroderma pigmentoso tipo variante (XPV) Xeroderma pigmentoso variante (XPV) Xeroderma pigmentosum Variante (XPV) Xeroderma pigmentosum variant Xeroderma pigmentosum, variant hrdo:pat_id_12022 90345 disease Chondrodysplasie métaphysaire non-classifiée Chondrodysplasie, metaphysäre, weitere Formen Condrodisplasia metafisaria non classificata Condrodisplasia metafisaria sin clasificar Condrodisplasia metafisária, outras Unclassified metaphyseal chondrodysplasia hrdo:pat_id_12024 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 123700 614434 neant Q82.8 90348 111388003 C0268350 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ADCL ADCL ADCL ADCL ADCL Autosomal dominant cutis laxa Cutis laxa autosomica dominante Cutis laxa autosomique dominante Cutis laxa autosómica dominante Cutis laxa, autosomal-dominante Cutis laxa, tipo dominante hrdo:pat_id_12025 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 219100 614437 neant Q82.8 90349 254222002 C0432336 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ARCL1 ARCL1 ARCL1 ARCL1 ARCL1 Autosomal recessive cutis laxa with severe systemic involvement Autosomal recessive cutis laxa, pulmonary emphysema type Cutis laxa autosomica recessiva con coinvolgimento sistemico Cutis laxa autosomica recessiva, tipo enfisema polmonare Cutis laxa autosomique récessive avec atteinte systémique sévère Cutis laxa autosomique récessive type emphysème pulmonaire Cutis laxa autosómica recesiva con afectación sistémica grave Cutis laxa autosómica recesiva, tipo enfisema pulmonar Autosomal recessive cutis laxa type 1 Cutis laxa autosomica recessiva, tipo 1 Cutis laxa autosomique récessive type 1 Cutis laxa autosómica recesiva de tipo 1 Cutis laxa recessiva, tipo 1 Cutis laxa, autosomal-rezessive, Typ 1 hrdo:pat_id_12026 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 219200 612940 neant Q82.8 90350 254223007 C0432337 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ARCL2 ARCL2 ARCL2 ARCL2 ARCL2 Autosomal recessive cutis laxa, Debré type Cutis laxa - Gelenkinstabilität - Entwicklungsverzögerung Cutis laxa - hyperlaxité ligamentaire - retard de développement Cutis laxa autosomica recessiva, tipo Debré Cutis laxa autosomique récessive type Debré Cutis laxa autosómica recesiva, tipo Debré Cutis laxa con lassità articolare e ritardo dello sviluppo Cutis laxa con laxitud articular y retraso en el desarrollo Cutis laxa with joint laxity and developmental delay Autosomal recessive cutis laxa type 2 Cutis laxa autosomica recessiva, tipo 2 Cutis laxa autosomique récessive type 2 Cutis laxa autosómica recesiva de tipo 2 Cutis laxa recessiva, tipo 2 Cutis laxa, autosomal-rezessive, Typ 2 hrdo:pat_id_12028 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 229200 614170 neant Q79.6 90354 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease EDS VIB Ehlers-Danlos-Syndrom Typ 6B SED VIB ''Brittle cornea''-Syndrom Brittle cornea syndrome Sindrome della cornea fragile Syndrome de la cornée fragile Síndrome de Ehlers-Danlos tipo 6B Síndrome de córnea frágil hrdo:pat_id_1203 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Fanconi+ichthyosis N25.8 1981 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deal-Barrat-Dillon syndrome Deal-Barratt-Dillon, síndrome de Deal-Barratt-Dillon-Syndrom Sindrome di Deal-Barratt-Dillon Syndrome de Deal-Barratt-Dillon Síndrome de Deal-Barratt-Dillon Síndrome de Deal-Barratt-Dillon Fanconi syndrome - ichthyosis - dysmorphism Fanconi-Syndrom - Ichthyose - Dysmorphie Ictiose - síndrome de Fanconi - dismorfia Sindrome di Fanconi - ittiosi - dismorfismi Syndrome de Fanconi - ichtyose - dysmorphie Síndrome de Fanconi - ictiosis - dismorfismo hrdo:pat_id_12030 C536567 neant I89.0 90362 6124009 C0267372 C2931241 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Enfermedad de Waldmann Maladie de Waldmann Malattia di Waldmann Waldmann disease Waldmann-Krankheit Linfangectasia intestinale primitiva Linfangiectasia intestinal primaria Linfangiectasia intestinal primária Lymphangiectasie intestinale primitive Lymphangiektasie, intestinale primäre Primary intestinal lymphangiectasia hrdo:pat_id_12031 neant I89.0 90363 disease Linfangiectasia intestinal secundaria Linfangiectasia intestinal secundária Linfangiectasia intestinale secondaria Lymphangiectasie intestinale secondaire Lymphangiektasie, intestinale sekundäre Secondary intestinal lymphangiectasia hrdo:pat_id_12032 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 146520 613981 neant L65.8 90368 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hereditary hypotrichosis simplex of the scalp Hipotricosis simple del cuero cabelludo hereditaria Hypotrichose héréditaire simple du cuir chevelu Ipotricosi semplice del cuoio capelluto, forma ereditaria Hipotricose simples do couro cabeludo Hipotricosis simple del cuero cabelludo Hypotrichose simple du cuir chevelu Hypotrichosis simplex des Skalps Hypotrichosis simplex of the scalp Ipotricosi semplice del cuoio capelluto hrdo:pat_id_12033 10043192 neant Q82.2 90389 8214000 C0263402 clinical subtype Mastocitoma cutáneo, telangiectasia maculosa Mastocitose cutânea, telangiectasia maculosa Mastocytose cutanée maculeuse télangiectasique Telangiectasia macularis eruptiva perstans Telangiectasia macularis eruptiva perstans Teleangectasia maculare eruttiva perstans hrdo:pat_id_12034 614149 C536378 neant Q84.3 90390 C1862840 clinical subtype Anonichia - onicodistrofia Anonichie - onychodystrophie Anoniquia - onicondistrofia Anonychia - onychodystrophy Anonychie - Onychodystrophie Anoníquia - onicodistrofia hrdo:pat_id_12037 neant L98.5 90393 disease Atypical tuberous myxedema of Jadassohn-Dosseker Mixedema de Jadassohn-Dosseker, atípico, tuberoso Mixedema tuberoso atipico di Jadassohn-Dosseker Myoxoedème tubéreux atypique de Jadassohn-Dosseker Myxödem, atypisches tuberöses, Typ Jadassohn-Dosseker Lichen mixedematoso nodulare Lichen myxoedematosus, nodulärer Lichen myxoedémateux nodulaire Liquen mixedematoso nodular Líquen mixedematoso nodular Nodular lichen myxedematosus hrdo:pat_id_12038 neant L98.5 90394 disease Discrete papular lichen myxedematosus Lichen mixedematoso papuloso, forma discreta Lichen myxoedematosus, diskreter papulöser Lichen myxoedémateux discret Liquen mixedematoso papular discreto Líquen mixedematoso papular, discreto hrdo:pat_id_12039 neant L98.5 90395 disease Cutaneous mucinosis of infancy Kutane Muzinose des Kindes Mucinose papuleuse infantile Mucinosi cutanea dell'infanzia Mucinosis cutánea de la infancia Mucinose cutanée infantile Mucinose papular do lactente Mucinosi papulare dell'infanzia Mucinosis papular de la infancia Muzinose, papulöse, des Kindesalters Papular mucinosis of infancy hrdo:pat_id_12040 neant L98.5 90396 238949006 C0406660 disease Acral persistent papular mucinosis Mucinose papular acral persistente Mucinose papuleuse acrale persistante Mucinosi papulosa acrale persistente Mucinosis papular acra persistente Muzinose, papulöse, akral-persistierende hrdo:pat_id_12041 neant L98.5 90397 disease Mucinose cutanée juvénile spontanément régressive Mucinose papular autolimitada Mucinosi papulosa spontaneamente regressiva Mucinosis papular, de resolución espontánea Muzinose, papulöse, selbst-heilende Self-healing papular mucinosis hrdo:pat_id_12042 neant L98.5 90398 clinical subtype Lichen mixedematoso localizzato associato a diversi sottotipi Lichen myxoedematosus, lokalisierter, mit gemischten Eigenschaften der Subtypen Lichen myxoedémateux localisé à présentation mixte Liquen mixedematoso localizado con rasgos mixtos de subtipos diferentes Localized lichen myxedematosus with mixed features of different subtypes Líquen mixedematoso localizado com características de diferentes subtipos hrdo:pat_id_12043 neant L98.5 90399 clinical subtype Lichen mixedematoso localizzato con gammapatia monoclonale e/o sintomi sistemici Lichen myxoedematosus, lokalisierter, mit monoklonaler Gammopathie/oder systemischen Symptomen Lichen myxoedémateux localisé avec gammopathie monoclonale ou avec symptômes systémiques Liquen mixedematoso localizado con gammapatía monoclonal o síntomas sistémicos Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms Líquen mixedematoso localizado com gamopatia monoclonal ou sintomas sistémicos hrdo:pat_id_12044 neant L98.5 90400 clinical subtype Escleromixedema sem gamopatia monoclonal Escleromixedema sin gammapatía monoclonal Scleromixedema senza gammopatia monoclonale Scleromyxedema without monoclonal gammopathy Scléromyxoedème sans gammopathie monoclonale Skleromyxödem ohne monoklonale Gammopathie hrdo:pat_id_12045 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 300030 300066 304500 304590 neant H90.3 90625 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive etiological subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hipoacusia neurosensorial aislada ligada al X, tipo DFN Hörverlust, isolierter neurosensorischer, X-chromosomaler, Typ DFN Perdita dell'udito neurosensoriale isolata legata all'X, tipo DFN Perdita dell'udito neurosensoriale non sindromica legata all'X, tipo DFN Sordità neurosensoriale isolata legata all'X, tipo DFN Surdité de perception isolée liée à l'X type DFN Surdité de perception non syndromique liée à l'X type DFN Surdité neurosensorielle isolée liée à l'X type DFN X-linked isolated neurosensory deafness type DFN X-linked isolated neurosensory hearing loss type DFN X-linked isolated sensorineural deafness type DFN X-linked isolated sensorineural hearing loss type DFN X-linked nonsyndromic neurosensory deafness type DFN X-linked nonsyndromic neurosensory hearing loss type DFN X-linked nonsyndromic sensorineural hearing loss type DFN Schwerhörigkeit, nicht-syndromale sensorineurale, X-chromosomale, Typ DFN Sordera neurosensorial no sindrómica ligada al X, tipo DFN Sordità neurosensoriale legata all'X, non sindromica, tipo DFN Surdez neurossensorial não-sindrómica ligada ao X, tipo DFN Surdité neurosensorielle non syndromique liée à l'X type DFN X-linked nonsyndromic sensorineural deafness type DFN hrdo:pat_id_12046 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 124900 600101 600652 600965 600994 601316 601317 601369 601412 601543 601544 601868 602459 603622 603964 604717 605192 605583 606012 606282 606346 606451 606705 607017 607197 607453 607683 607841 608224 608372 608394 608641 608645 608652 609129 609965 612431 612642 612643 612644 613074 613558 614152 614211 614614 neant H90.3 90635 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate etiological subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Autosomal dominant isolated neurosensory deafness type DFNA Autosomal dominant isolated neurosensory hearing loss type DFNA Autosomal dominant isolated sensorineural deafness type DFNA Autosomal dominant isolated sensorineural hearing loss type DFNA Autosomal dominant nonsyndromic neurosensory deafness type DFNA Autosomal dominant nonsyndromic neurosensory hearing loss type DFNA Autosomal dominant nonsyndromic sensorineural hearing loss type DFNA Hörverlust, isolierter neurosensorischer, autosomal-dominanter, Typ DFNA Perdita dell'udito isolata, autosomica dominante, tipo DFNA Perdita dell'udito neurosensoriale non sindromica, autosomica dominante, tipo DFNA Sordità neurosensoriale isolata, autosomica dominante,tipo DFNA Surdité de perception isolée autosomique dominante type DFNA Surdité de perception non syndromique autosomique dominante type DFNA Surdité neurosensorielle isolée autosomique dominante type DFNA Autosomal dominant nonsyndromic sensorineural deafness type DFNA Schwerhörigkeit, nicht-syndromale sensorineurale, autosomal-dominante, Typ DFNA Sordera neurosensorial no sindrómica autosómica dominante, tipo DFNA Sordità neurosensoriale non sindromica, autosomica dominante, tipo DFNA Surdez sensorineural não-sindrómica autossómica dominante, tipo DFNA Surdité neurosensorielle non syndromique autosomique dominante type DFNA hrdo:pat_id_12047 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 220290 220900 600060 600316 600791 600792 600971 600974 601071 601072 601386 601869 602092 603010 603098 603629 603678 603720 604060 605428 605818 607039 607084 607101 607239 607821 608219 608264 608265 608565 608653 609006 609439 609533 609646 609647 609706 609823 609941 609946 609952 610143 610153 610154 610212 610220 610248 610265 610419 611022 611451 612433 612645 612789 613079 613285 613307 613391 613392 613453 613685 613718 613865 613916 614035 614129 614414 614617 614861 614899 614934 614944 614945 neant H90.3 90636 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo etiological subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Autosomal recessive isolated neurosensory deafness type DFNB Autosomal recessive isolated sensorineural deafness type DFNB Autosomal recessive nonsyndromic neurosensory deafness type DFNB Hörverlust, isolierter neurosensorischer, autosomal-rezessiver, Typ DFNB Schwerhörigkeit, nicht-syndromale neurosensorische, autosomal-rezessive, Typ DFNB Sordità neurosensoriale isolata, autosomica recessiva, tipo DFNB Surdité de perception isolée autosomique récessive type DFNB Surdité de perception non syndromique autosomique récessive type DFNB Surdité neurosensorielle isolée autosomique récessive type DFNB Autosomal recessive nonsyndromic sensorineural deafness type DFNB Schwerhörigkeit, nicht-syndromale sensorineurale, autosomal-rezessive, Typ DFNB Sordera neurosensorial no sindrómica autosómica recesiva, tipo DFNB Sordità neurosensoriale non sindromica, autosomica recessiva, tipo DFNB Surdez sensorineural não-sindrómica autossómica recessiva, tipo DFNB Surdité neurosensorielle non syndromique autosomique récessive type DFNB hrdo:pat_id_12050 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 221745 500008 neant H90.3 90641 Herencia mitocondrial Hérédité mitochondriale Mitochondrial inheritance Mitochondrial inheritance Mitochondriale Vererbung Modo de hereditariedade mitocondrial Trasmissione mitocondriale etiological subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hörverlust, isolierter neurosensorischer, mitochondrial bedingt Isolated mitochondrial neurosensory deafness Isolated mitochondrial sensorineural deafness Mitochondrial nonsyndromic neurosensory deafness Sordera neurosensorial mitocondrial aislada Sordità neurosensoriale mitocondriale isolata Sordità sensorio-neuronale mitocondriale isolata Sordità sensorio-neuronale mitocondriale non sindromica Surdité de perception isolée mitochondriale Surdité de perception non syndromique mitochondriale Surdité neurosensorielle isolée mitochondriale Mitochondrial nonsyndromic sensorineural deafness Schwerhörigkeit, nicht-syndromale, mitochondriale Sordera neurosensorial mitocondrial no sindrómica Sordità neurosensoriale mitocondriale non sindromica Surdez neurossensorial mitocondrial não-sindrómica Surdité neurosensorielle non syndromique mitochondriale hrdo:pat_id_12051 neant H90.3 90642 group of phenomes Schwerhörigkeit, syndromale, genetisch bedingte Sordera, sindrómica Sordità genetica sindromica Surdez sindrómica Surdité génétique syndromique Syndromic genetic deafness hrdo:pat_id_12055 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 304350 neant 90646 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deafness - hypogonadism Schwerhörigkeit - Hypogonadismus Sordera - Hipogonadismo Sordità - ipogonadismo Surdez - hipogonadismo Surdité - hypogonadisme hrdo:pat_id_12056 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 220400 612347 D029593 10057936 neant I45.8 90647 373905003 C0022387 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Intervalle QT long - surdité Intervalo QT largo - sordera Long QT interval - deafness QT-Intervall, verlängertes - Schwerhörigkeit Intervalo QT longo - surdez Jervell and Lange-Nielsen syndrome Jervell-Lange-Nielsen-Syndrom Sindrome di Jervell e Lange-Nielsen Syndrome de Jervell et Lange-Nielsen Síndrome de Jervell y Lange-Nielsen hrdo:pat_id_12058 608518 neant Q87.0 90649 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome OFD7 OFD7 OFD7 OFD7 OFD7 Orofaciodigital syndrome type 7 Sindrome di Whelan Sindrome orofaciodigitale, tipo 7 Syndrome de Whelan Syndrome orofaciodigital de type 7 Síndrome de Whelan Whelan syndrome Whelan-Syndrom Oral-facial-digital syndrome type 7 Oro-fazio-digitales Syndrom Typ 7 Sindrome oro-facio-digitale, tipo 7 Syndrome oro-facio-digital de type 7 Síndrome orofaciodigital tipo 7 Síndrome orofaciodigital tipo 7 hrdo:pat_id_12059 311300 neant Q87.0 90650 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant clinical subtype Oto-palato-digitales Syndrom Typ 1 Otopalatodigital syndrome type 1 Sindrome oto-palato-digitale, tipo 1 Syndrome otopalatodigital type 1 Síndrome oto-palato-digital tipo 1 Síndrome otopalatodigital tipo 1 hrdo:pat_id_1206 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 214450 607624 609227 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Griscelli+disease%5Bti%5D+OR+Griscelli+syndrome%5Bti%5D+OR+%28Griscelli+AND+albinism%5Bmh%5D%29 E70.3 381 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Albinisme partiel - déficit immunitaire Albinismo parcial - imunodeficiência Albinismo parziale - immunodeficienza Chediak-Higashi like syndrome Chediak-Higashi-like, síndrome de Chediak-Higashi-ähnliches-Syndrom Partial albinism - immunodeficiency Partieller Albinismus - Immundefekt Sindrome Chediak-Higashi-simile Syndrome de Chediak-Higashi-like Síndrome de Chediak-Higashi-like Síndrome de Chediak-Higashi-like Doença de Griscelli Enfermedad de Griscelli Griscelli disease Griscelli-Syndrom Maladie de Griscelli Malattia di Griscelli hrdo:pat_id_12060 304120 C538089 neant Q87.0 90652 42432003 C1844696 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant clinical subtype Oto-palato-digitales Syndrom Typ 2 Otopalatodigital syndrome type 2 Sindrome oto-palato-digitale, tipo 2 Syndrome otopalatodigital type 2 Síndrome oto-palato-digital tipo 2 Síndrome otopalatodigital tipo 2 hrdo:pat_id_12061 108300 609508 neant Q15.8 Q87.5 90653 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate etiological subtype Sindrome di Stickler, tipo 1 Stickler syndrome type 1 Stickler-Syndrom Typ 1 Syndrome de Stickler type 1 Síndrome de Stickler tipo 1 Síndrome de Stickler tipo 1 hrdo:pat_id_12062 604841 C537493 neant Q15.8 Q87.5 90654 C1858084 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate etiological subtype Sindrome di Stickler, tipo 2 Stickler syndrome type 2 Stickler-Syndrom Typ 2 Syndrome de Stickler type 2 Síndrome de Stickler tipo 2 Síndrome de Stickler tipo 2 hrdo:pat_id_12066 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 118300 C537986 C538078 neant G60.0 90658 C1861669 C2931686 disease CMT1E CMT1E CMT1E CMT1E Charcot-Marie-Tooth disease - deafness Charcot-Marie-Tooth-Krankheit - Schwerhörigkeit Maladie de Charcot-Marie-Tooth - surdité Malattia di Charcot-Marie-Tooth - sordità Charcot-Marie-Tooth disease type 1E Charcot-Marie-Tooth-Krankheit Typ 1E Doença de Charcot-Marie-Tooth tipo 1E Enfermedad de Charcot-Marie-Tooth tipo 1E Maladie de Charcot-Marie-Tooth type 1E Malattia di Charcot-Marie-Tooth, tipo 1E hrdo:pat_id_12074 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 275200 neant E03.1 90673 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hipotiroidismo debido a mutaciones en el receptor de la TSH Hipotiroidismo por mutações no recetor da TSH Hypothyreose durch TSH-Rezeptor-Genmutationen Hypothyroidism due to TSH receptor mutations Hypothyroïdie par mutation du récepteur de la TSH Ipotiroidismo da mutazioni del recettore di TSH hrdo:pat_id_12075 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 275100 neant E03.1 90674 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Déficit isolé en thyréostimuline Isolated TSH deficiency Thyreotropin, Beta-Ketten-Mangel Deficit isolato dell'ormone stimolante la tiroide Deficiência de Cadeia beta da hormona estimulante da tiroide Déficit aislado de la hormona estimulante de la tiroides Déficit isolé en TSH Isolated thyroid-stimulating hormone deficiency TSH-Mangel, isolierter hrdo:pat_id_12078 90692 group of phenomes Doença endócrina do crescimento, rara Enfermedad rara endocrina del crecimiento Maladie endocrinienne rare de la croissance Malattia rara della crescita endocrina Rare endocrine growth disease Wachstumsstörung, hormonelle hrdo:pat_id_12081 262600 312000 10033662 neant E23.0 90695 32390006 C0242343 disease Pan-hipopituitarismo Panhipopituitarismo Panhypopituitarism Panhypopituitarisme Panhypopituitarismus Panipopituitarismo hrdo:pat_id_12085 D012734 90771 C0036875 group of phenomes ADS DSD DSD DSD TDS Trastorno del desarrollo sexual Anomalie dello sviluppo sessuale Anomalie du développement sexuel Desarrollo sexual anómalo Disorder of sex development Doença do desenvolvimento sexual Störung der Geschlechtsentwicklung hrdo:pat_id_12087 90776 group of phenomes 46,XX DSD induced by fetal androgens excess ADS 46,XX due à un excès d'androgènes fœtal DSD 46,XX due à un excès d'androgènes fœtal 46,XX disorder of sex development induced by fetal androgens excess Androgen-induzierte Störung der Geschlechtsentwicklung 46,XX, foetale Anomalie du développement sexuel 46,XX due à un excès d'androgènes fœtal Doença do desenvolvimento sexual 46,XX induzido por androgénio de origem fetal Malattia dello sviluppo sessuale 46,XX da androgeni, di origine fetale Trastorno del desarrollo sexual 46,XX inducido por andrógenos, de origen fetal hrdo:pat_id_12089 90783 group of phenomes 46,XY DSD due to due to testosterone synthesis defect ADS 46,XY par défaut de synthèse de testostérone DSD 46,XY par défaut de synthèse de testostérone 46,XY disorder of sex development due to testosterone synthesis defect Anomalie du développement sexuel 46,XY par défaut de synthèse de testostérone Disturbi dello sviluppo sessuale 46,XY dovuti a difetti congeniti della biosintesi del testosterone Doença do desenvolvimento sexual 46,XY por erro inato da biossíntese da testosterona Störung der Geschlechtsentwicklung 46,XY, bei angeborener Störung der Testosteron-Biosynthese Trastorno del desarrollo sexual 46,XY debido a un error innato en la biosíntesis de la testosterona hrdo:pat_id_1209 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Variabel Variabile Variable Variable Variable Variable Variável 155310 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(congenital+OR+genetic+OR+genetics+OR+Familial)+(visceral+myopath*%5BTW%5D+OR+intestinal+myopathy%5Btw%5D)+OR+intestinal+pseudo-obstruction%2Fcn G71.2 K56.0 2604 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Familial hollow visceral myopathy Hereditary hollow visceral myopathy Megaduodeno - megavesícula Megaduodeno e/ou megabexiga Megaduodenum and/or megacystis Megaduodenum und/oder Megazystis Mégaduodénum - mégavessie Pseudoobstrucción intestinal idiopática Sindrome del megaduodeno e/o della megacisti Familial visceral myopathy Miopatia visceral familiar Miopatia viscerale familiare Miopatía visceral familiar Myopathie viscérale familiale Myopathie, familiäre viszerale hrdo:pat_id_12090 90786 group of phenomes 46,XY DSD due to adrenal and testicular steroidogenesis defect ADS 46,XY par défaut de stéroïdogénèse surrénalien et testiculaire DSD 46,XY par défaut de stéroïdogénèse surrénalien et testiculaire 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect Anomalie du développement sexuel 46,XY par défaut de stéroïdogénèse surrénalien et testiculaire Disturbo dello sviluppo sessuale 46,XY, da deficit enzimatico che interessa la sintesi dei corticosteroidi e del testosterone Doença do desenvolvimento sexual 46,XY por deficiência enzimática afetando a síntese de corticosteroides e testosterona Störung der Geschlechtsentwicklung 46,XY, bei Enzymdefekt mit Beeinträchtigung der Kortikosteroid- und Testosteron-Synthese Trastorno del desarrollo sexual 46,XY debido a un déficit de la síntesis de los corticosteroides y la testosterona hrdo:pat_id_12091 neant E29.1 90787 group of phenomes 46,XY DSD due to testicular steroidogenesis defect ADS 46,XY par défaut de stéroïdogénèse testiculaire DSD 46,XY par défaut de stéroïdogénèse testiculaire 46,XY disorder of sex development due to testicular steroidogenesis defect Anomalie du développement sexuel 46,XY par défaut de stéroïdogénèse testiculaire Disturbo dello sviluppo sessuale 46,XY da difetto enzimatico che colpisce per prima la biosintesi del testosterone testicolare Doença do desenvolvimento sexual 46,XY por deficiência enzimática afetando sobretudo a biossíntese de testosterona testicular Störung der Geschlechtsentwicklung 46,XY, bei Enzymdefekt mit Beeinträchtigung der testikulären Testosteron-Biosynthese Trastorno del desarrollo sexual 46,XY debido a un defecto de la biosíntesis de la testosterona testicular hrdo:pat_id_12094 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 201710 C537027 neant E25.0 90790 C0342474 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CLAH CLAH CLAH Hiperplasia suprarrenal congénita lipoide por deficiencia de STAR Congenital lipoid adrenal hyperplasia due to STAR deficency Hiperplasia suprarrenal congénita lipoide por déficit de STAR Hiperplasia suprarrenal lipóide congénita (deficiência STAR) Hyperplasie congénitale lipoïde des surrénales par deficit en STAR Iperplasia surrenalica lipoide congenita (deficit di STAR) Nebennierenhyperplasie, kongenitale, durch STAR-Mangel, lipoide Form hrdo:pat_id_12095 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 201810 neant E25.0 90791 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency CAH por deficiencia de 3-beta-hidroxiesteroide deshidrogenasa CAH por déficit de 3-beta-hidroxiesteroide deshidrogenasa HCS par déficit en 3-bêta-hydroxystéroïde déshydrogénase Hiperplasia suprarrenal congénita por deficiencia de 3-beta-hidroxiesteroide deshidrogenasa Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency Hiperplasia suprarrenal congénita por deficiência de 3-beta-hidroxi-esteróide desidrogenase Hiperplasia suprarrenal congénita por déficit de 3-beta-hidroxiesteroide deshidrogenasa Hyperplasie congénitale des surrénales par déficit en 3-bêta-hydroxystéroïde déshydrogénase Iperplasia surrenalica congenita da deficit di 3-beta-idrossisteroidi Nebennierenhyperplasie, kongenitale, durch 3-beta-Hydroxysteroid-Dehydrogenase-Mangel hrdo:pat_id_12096 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 202110 neant E25.0 90793 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 CAH due to 17-alpha-hydroxylase deficiency CAH por deficiencia de 17-alfa-hidroxilasa CAH por déficit de 17-alfa-hidroxilasa HCS par déficit en 17-alpha-hydroxylase Hiperplasia suprarrenal congénita por deficiencia de 17-alfa-hidroxilasa Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency Hiperplasia suprarrenal congénita por deficiência de 17-alfa-hidroxilase Hiperplasia suprarrenal congénita por déficit de 17-alfa-hidroxilasa Hyperplasie congénitale des surrénales par déficit en 17-alpha-hydroxylase Iperplasia surrenale congenita da deficit di 17-alfa-idrossilasi Nebennierenhyperplasie, kongenitale, durch 17-alpha-Hydroxylase-Mangel hrdo:pat_id_12097 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 201910 neant E25.0 90794 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 CAH 21-OHD clásica Classic 21-OHD CAH HCS classique par 21-OHD Hiperplasia suprarrenal congénita clásica por deficiencia de 21-hidroxilasa Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Hiperplasia suprarrenal congénita clásica por déficit de 21-hidroxilasa Hiperplasia suprarrenal congénita por deficiência de 21-hidroxilase, forma clássica Hyperplasie congénitale des surrénales par déficit en 21-hydroxylase classique Iperplasia surrenalica congenita da deficit di 21-idrossilasi, forma classica Nebennierenhyperplasie, kongenitale, durch 21-Hydroxylase-Mangel, klassische Form hrdo:pat_id_12098 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 202010 C535978 10000002 neant E25.0 90795 124214007 C0268292 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 CAH due to 11-beta-hydroxylase deficiency CAH por deficiencia de 11-beta-hidroxilasa CAH por déficit de 11-beta-hidroxilasa CYP11B1 deficiency Deficiencia de CYP11B1 Déficit de CYP11B1 Déficit en CYP11B1 HCS par déficit en 11-bêta-hydroxylase Hiperplasia suprarrenal congénita por deficiencia de 11-beta-hidroxilasa Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency Hiperplasia suprarrenal congénita por deficiência de 11-beta-hidroxilase Hiperplasia suprarrenal congénita por déficit de 11-beta-hidroxilasa Hyperplasie congénitale des surrénales par déficit en 11-bêta-hydroxylase Iperplasia surrenale congenita da deficit di 11-beta-idrossilasi Nebennierenhyperplasie, kongenitale, durch 11-beta-Hydroxylase-Mangel hrdo:pat_id_12099 614279 neant E29.1 90796 disease 46,XY disorder of sex development due to isolated 17, 20 lyase deficiency Anomalie du développement sexuel 46,XY due à un déficit isolé en 17, 20 lyase Disturbi 46,XY dello sviluppo sessuale dovuti a deficit isolato di 17,20-liasi Doenças do desenvolvimento sexual 46,XY, por deficiência isolada da 17,20-liase Störung der Geschlechtsentwicklung 46,XY, durch isolierten 17, 20 Hydroxylase-Mangel Trastonos 46,XY del desarrollo sexual debido a un déficit aislado de 17,20 liasa hrdo:pat_id_121 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Variabel Variabile Variable Variable Variable Variable Variável 131100 D018761 10028190 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=multiple+endocrine+neoplasia+type+1%5Bmh%5D+OR+men1%5Bti%5D+OR+Multiple+endocrine+neoplasia+type+1%5Btw%5D D44.8 652 30664006 C0025267 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 MEN 1 MEN 1 MEN 1 MEN 1 NEM 1 Sindrome di Wermer Syndrome de Wermer Síndrome de Wermer Wermer syndrome Wermer, síndrome de Wermer-Syndrom Multiple endocrine neoplasia type 1 Neoplasia endocrina multipla, tipo 1 Neoplasia endocrina múltiple tipo 1 Neoplasias endócrinas múltiplas tipo 1 Neoplasie, endokrine multiple, Typ 1 Néoplasie endocrinienne multiple type 1 hrdo:pat_id_12100 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 312300 neant E34.5 90797 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Androgen-Resistenz-Syndrom, partielles PAIS PAIS PAIS PAIS PAIS Partial androgen resistance syndrome Reifenstein-Syndrom SIPA Sindrome da resistenza parziale agli androgeni Störung der Geschlechtsentwicklung 46,XY bei partieller Androgen-Insensivität Síndrome de resistencia parcial a los andrógenos Trastorno del desarrollo sexual 46,XY debido a insensibilidad parcial a andrógenos Androgen-Insensivitäts-Syndrom, partielles Insensibilidade parcial aos androgénios Partial androgen insensitivity syndrome Sindrome da insensibilità parziale agli androgeni Syndrome d'insensibilité partielle aux androgènes Síndrome de insensibilidad parcial a los andrógenos hrdo:pat_id_12101 Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=lipodystrophy%5Bmh%5D+OR+lipodystroph*%5Bti%5D E88.1 90970 group of phenomes 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Lipodistrofia primária Lipodistrofias primarias (término genérico) Lipodistrofie primitive Lipodystrophie primitive Lipodystrophien, primäre Primary lipodystrophy hrdo:pat_id_12102 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Charcot-Marie-Tooth+disease+(type+2%5Btw%5D+OR+type+ii%5Btw%5D)+recessive G60.0 91024 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo group of phenomes AR-CMT2 AR-CMT2 AR-CMT2 AR-CMT2 AR-CMT2 Autosomal recessive axonal Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth disease, axonal, autosomal recessive type 4C Charcot-Marie-Tooth-Krankheit, axonale, autosomal-rezessive, Typ 4c Enfermedad de Charcot-Marie-Tooth axonal autosómica recesiva, tipo 4C Maladie de Charcot-Marie-Tooth axonale autosomique récessive type 4C Malattia assonale di Charcot-Marie-Tooth, autosomica recessiva, tipo 4C Autosomal recessive axonal Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth-Krankheit Typ 2, autosomal-rezessive Doença de Charcot-Marie-Tooth tipo 2 autossómica recessiva Enfermedad de Charcot-Marie-Tooth axonal autosómica recesiva, tipo 2 Maladie de Charcot-Marie-Tooth axonale autosomique recéssive type 2 Malattia di Charcot-Marie-Tooth assonale, autosomica recessiva, tipo 2 hrdo:pat_id_12103 91088 group of phenomes Altra malattia metabolica Autre maladie métabolique Other metabolic disease Otra enfermedad metabólica Outra doença metabólica Stoffwechselstörung, sonstige hrdo:pat_id_12104 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Adenovirus+infection+(immunocompromised+host+OR+Immunologic+Deficiency+Syndromes+OR+Transplantation%2Fae) B34.0 91127 particular clinical situation in a disease or syndrome Adenovirus infection in immunocompromised patients Adenovirus-Infektion in Immununterdrückten Patienten Infección por adenovirus en pacientes inmunocomprometidos Infection par l'adénovirus chez des patients immunodéprimés Infezione da adenovirus nei pazienti immunodepressi Infeção por adenovirus em pacientes imunocomprometidos hrdo:pat_id_12105 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Graft+rejection+lung+transplantation T86.8 91128 particular clinical situation in a disease or syndrome 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Graft rejection after lung transplantation Rechazo al injerto después de un trasplante de pulmón Rejeição de enxerto após transplante de pulmão Rejet de greffe après transplantation du poumon Rigetto del polmone trapiantato Transplantatabstoßung nach Lungentransplantation hrdo:pat_id_12106 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28anophthalm*[ti]+OR+Anophthalmos%29+%28Heart+Defects[tw]+OR+Heart+Defects%2C+Congenital%29+%28lung/ab+OR+lung[ti]+OR+pulmonary[ti]%29 Q87.8 91129 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anoftalmia - anomalias cardíacas e pulmonares - atraso mental Anoftalmia - anomalie cardiache e polmonari - ritardo mentale Anoftalmía - anomalías cardíacas y pulmonares - déficit intelectual Anophtalmie - anomalies cardiaques et pulmonaires - déficit intellectuel Anophthalmia - heart and pulmonary anomalies - intellectual deficit Anophthalmie - Herz- und Lungenanomalien - Intelligenzminderung hrdo:pat_id_12107 610773 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=cardiomyopathy+%28lactic+acidosis%5Bti%5D+OR+acidosis%2C+lactic%5Bmh%5D%29+hypotonia G71.3 91130 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Phosphat-Transporter-Defekt, mitochondrialer Cardiomiopatia - ipotonia - acidosi lattica Cardiomyopathie - hypotonie - acidose lactique Cardiomyopathy - hypotonia - lactic acidosis Kardiomyopathie - Hypotonie - Laktazidose Miocardiopatia - hipotonia - acidose láctica Miocardiopatía - hipotonia - acidosis láctica hrdo:pat_id_12108 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 610768 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Dolichol+Phosphates%2Fdf+OR+(dolichol+kinase+(deficit+OR+deficien*)) E77.8 91131 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anomalie congénitale de la glycosylation type 1m Anomalie congénitale de la glycosylation type Im CDG syndrome type 1M CDG syndrome type Im CDG-Im CDG-Im CDG-Im CDG-Im CDG1M CDG1M CDG1M CDG1M CDG1M Carbohydrate deficient glycoprotein syndrome type Im Congenital disorder of glycosylation type 1m Congenital disorder of glycosylation type Im Deficit di dolicol chinasi Disturbo congenito della glicosilazione, tipo 1m Disturbo congenito della glicosilazione, tipo Im Dolichol kinase deficiency Déficit de dolicol quinasa Défict en dolichol kinase Hipotonía e ictiosis por déficit de dolicol fosfato Hypotonia and ichthyosis due to dolichol phosphate deficiency Hypotonie et ichtyose par déficit en dolichol phosphate Hypotonie und Ichthyose durch Dolicholkinase-Defekt Ipotonia e ittiosi da deficit di dolicol fosfato Kohlenhydrat-defizientes Glykoprotein-Syndrom Im Kongenitaler Defekt der Glycoproteinbiosynthese Typ Im Sindrome CDG, tipo 1M Sindrome CDG, tipo Im Sindrome delle glicoproteine carenti in carboidrati, tipo Im Syndrome CDG type 1m Syndrome CDG type Im Syndrome des glycoprotéines déficientes en hydrates de carbone type Im Síndrome CDG tipo 1M Síndrome CDG tipo 1m Síndrome CDG tipo Im Síndrome de glicoproteínas deficientes en carbohidratos tipo Im Trastorno congénito de la glicosilación tipo 1m Trastorno congénito de la glicosilación tipo Im CDG-Syndrom Typ Im DK1-CDG syndrome Sindrome DK1-CDG Syndrome DK1-CDG Síndrome CDG tipo Im Síndrome DK1-CDG hrdo:pat_id_12109 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 610765 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Hypotrichosis%5Bti%5D+ichthyosis Q80.8 91132 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hipotricosis - ictiosis congénita Hypotrichose - Ichthyose, kongenital Hypotrichose - ichtyose congénitale Hypotrichosis - congenital ichthyosis Ipotricosi - ittiosi congenita Hipotricose - ictiose, congénita Ichthyose-Hypotrichose-Syndrom Ichthyosis-hypotrichosis syndrome Sindrome ittiosi-ipotricosi Syndrome hypotrichose-ichtyose Síndrome hipotricosis e ictiosis hrdo:pat_id_12110 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Osteopenia+myopia+hearing+loss Q87.5 91133 malformation syndrome Osteopenia - miopia - perdità dell'udito - deficit cognitivo - dismorfismi facciali Osteopenia - miopia - surdez - atraso mental - dismorfias faciais Osteopenia - miopía - pérdida de audición - déficit intelectual - dismofismo facial Osteopenia - myopia - hearing loss - intellectual deficit - facial dysmorphism Osteopenie - Myopie - Hörverlust - Intelligenzminderung - Gesichtsdysmorphien Ostéopénie - myopie - surdité - déficit intellectuel - dysmorphie hrdo:pat_id_12112 610842 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28cutis+laxa+OR+pseudoxanthoma+elasticum%29+vitamin+K+coagulation+factor+deficiency D68.4 91135 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 PXE-like syndrome PXE-ähnliches Syndrom Pseudoxanthoma elasticum-like syndrome Pseudoxanthoma elasticum-ähnliches Syndrom Sindrome simil-PXE Sindrome simil-pseudoxantoma elastico Syndrome PXE-like Syndrome pseudoxanthome élastique-like Síndrome PXE-like Síndrome pseudoxantoma elástico-like Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency Hiperlaxidez cutânea por deficiência de fatores de coagulação dependentes de vitamina K Hiperlaxitud de la piel del cuerpo por déficit de factor de coagulación dependiente de vitamina K Hyperlaxität der Haut durch Mangel an Vitamin K-abhängigen Koagulationsfaktoren Hyperlaxité de la peau par déficit en facteur de coagulation vitamine K-dépendant Iperlassità cutanea da deficit del fattore della coagulazione vitamina-K dipendente hrdo:pat_id_12113 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=fanconi+%28kappa+light%5Btw%5D+OR+Immunoglobulin+kappa-Chains%29 E72.0 91136 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Kappa light chain-associated Fanconi syndrome Leichtketten-Fanconi-Syndrom Monoclonal kappa Ig light chain-associated Fanconi syndrome Myelom-assoziiertes Fanconi-Syndrom Myeloma-associated Fanconi syndrome Sindrome di Fanconi associata al mieloma Sindrome di Fanconi associata alle catene leggere kappa delle Ig monoclonali Syndrome de Fanconi associé à la chaine légère kappa des Ig monoclonales Syndrome de Fanconi associé à un myélome Síndrome de Fanconi asociado a cadenas ligeras Ig kappa monoclonal Fanconi-Syndrom, monoklonales Kappa-Leichtketten-assoziiertes Monoclonal Ig light chain-associated Fanconi syndrome Sindrome di Fanconi associata alle catene leggere delle Ig monoclonali Syndrome de Fanconi associé à la chaine légère des Ig monoclonales Síndrome de Fanconi Síndrome de Fanconi asociado a cadenas ligeras Ig monoclonal hrdo:pat_id_12114 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Immunotactoid+OR+microtubular%29+%28glomerulopath*%5Bti%5D+OR+Glomerulonephritis%5Bmh%5D%29 N03.6 91137 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Glomerulonefrite imunotactóide ou fibrilar Glomerulonefritis fibrilar o inmunotactoide Glomerulonefritis inmunotactoide o fibrilar Glomerulonephritis, immunotaktoide oder fibrilläre Glomérulonéphrite immunotactoïde ou fibrillaire Immunotactoid or fibrillary glomerulonephritis Glomerulopathie, immunotaktoide oder fibrilläre Glomerulopatia immunotattoide o fibrillare Glomerulopatia imunotactóide ou fibrilar Glomerulopatía inmunotactoide o fibrilar Glomérulopathie immunotactoïde ou fibrillaire Immunotactoid or fibrillary glomerulopathy hrdo:pat_id_12115 Variabel Variabile Variable Variable Variable Variable Variável 123550 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28cryoglobulin*%5Bti%5D+OR+cryoglobulinemia%5Bmh%5D%29+NOT+%28type+I+cryoglobulin*%5Btw%5D%29 D89.1 91138 C0543697 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CM Crioglobulinemia esencial Crioglobulinemia esencial mixta Crioglobulinemia essenziale Crioglobulinemia mista essenziale Crioglobulinemia primaria Crioglobulinemia primitiva Crioglobulinemia vascular Cryoglobulinemic vascularitis Cryoglobulinemic vasculitis Cryoglobulinémie essentielle Cryoglobulinémie essentielle mixte Cryoglobulinémie primaire Essential cryoglobulinemia Essential mixed cryoglobulinemia Kryoglobulinämie, essentielle Kryoglobulinämie, essentielle gemischte Kryoglobulinämie, primäre MC MC MC MC Primary cryoglobulinemia Vascularite cryoglobulinémique Vasculite crioglobulinemica Vasculitis crioglobulinémica Vaskulitis, kryoglobulinämische Crioglobulinemia mista Crioglobulinemia mista Crioglobulinemia mixta Cryoglobulinémie mixte Kryoglobulinämie, gemischte Mixed cryoglobulinemia hrdo:pat_id_12116 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=type+I+cryoglobulin*%5Btw%5D D89.1 91139 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Crioglobulinemia de tipo 1 Crioglobulinemia tipo I Crioglobulinemia, tipo 1 Cryoglobulinemia type 1 Cryoglobulinémie type I Kryoglobulinämie Typ I Crioglobulinemia semplice Crioglobulinemia simple Crioglobulinemia simples Cryoglobulinémie simple Kryoglobulinämie, einfache Simple cryoglobulinemia hrdo:pat_id_12117 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=arthritis%2C+juvenile+rheumatoid%5Bmh%5D+%28undifferentiated+OR+unclassified+OR+undefined%29 M08.8 91140 group of phenomes Arthrite idiopathique juvénile non-classifiée Arthritis, idiopathische juvenile unklassifizierte Artrite idiopatica giovanile non classificata Artrite idiopática juvenil, não-classificada Artritis idiopática juvenil sin clasificar Unclassified juvenile idiopathic arthritis hrdo:pat_id_12119 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=complications[sh]+Pregnancy+female+%28pseudohermaphroditism[mh%3Anoexp]+OR+pseudohermaphrodi*[Ti]+OR+pseudo+hermaphrod*[Ti]%29+androgen+NOT+male[Ti] Q56.2 91144 group of phenomes 46,XX DSD induced by maternal-derived androgen ADS 46,XX due aux androgènes d'origine maternelle DSD 46,XX due aux androgènes d'origine maternelle Weiblicher Pseudohermaphroditismus, androgeninduzierter maternalen Ursprungs 46,XX disorder of sex development induced by maternal-derived androgen Anomalie du développement sexuel 46,XX due aux androgènes d'origine maternelle Doença do desenvolvimento sexual induzido por androgénios de origem materna Malattia dello sviluppo sessuale 46,XX da androgeni di origine materna Störung der Geschlechtsentwicklung 46,XX , Androgen-induziert, maternal Trastorno del desarrollo sexual 46,XX inducido por andrógenos, de origen materno hrdo:pat_id_1212 251950 C537476 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=((mitochondrial+myopath*%5Btw%5D+lactic+acidosis%5Btw%5D)+NOT+melas%5Btw%5D)+OR+(mitochondrial+myopathies%5Bmh%3Anoexp%5D+acidosis,+lactic) G71.3 2597 C1855033 disease Miopatía mitocondrial - acidosis láctica - pérdida de audición Mitochondrial myopathy - lactic acidosis - hearing loss Miopatia mitocondrial - acidose láctica Miopatia mitocondriale acidosi lattica Miopatía mitocondrial - acidosis láctica - sordera Mitochondrial myopathy - lactic acidosis - deafness Mitochondriale Myopathie - Laktatazidose Myopathie mitochondriale - acidose lactique - surdité hrdo:pat_id_12121 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Thyrotropin[majr]+OR+thyrotrop*[ti]+OR+tsh[ti]+OR+thyroid+stimulating[ti]%29+%28pituitary+adenoma*[ti]+OR+pituitary+neoplasms[majr]%29 D35.2 91347 254959007 C0346303 disease Adenoma hipofisario tirotrófico Adenoma ipofisario tireotropo Adénome hypophysaire à TSH Adénome hypophysaire à thyréostimuline Adénome thyréotrope hypophysaire Hypophysenadenom, thyreotropes Pituitary thyrotrophic adenoma TSH-oma Thyroid stimulating hormone-secreting pituitary adenoma Thyrotroph adenoma Adenom, thyreotropes Adenoma tireotropo Adenoma tireotrófico Adenoma tirotrófico Adénome thyréotrope TSH-secreting pituitary adenoma hrdo:pat_id_12122 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=(gonadotrop*[ti]+OR+gonadotroph[mh]+OR+Follitropin/se+OR+fsh[ti]+OR+Lutropin/se+OR+lh[ti])+(pituitary[ti]+adenoma*[ti]+OR+pituitary+neoplasms[majr]) D35.2 91348 254960002 C0346304 disease Adenoma hipofisario gonadotrófico secretor Adenoma ipofisario gonadotropo Adénome gonadotrope hypophysaire fonctionnel Functioning pituitary gonadotrophic adenoma Hypophysenadenom, gonadotropes Adenom, gonadotropes Adenoma gonadotropo Adenoma gonadotrófico Adenoma gonadotrófico secretor Adénome gonadotrope fonctionnel Functioning gonadotroph adenoma hrdo:pat_id_12123 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=pituitary+nonsecret*+adenoma D35.2 91349 disease NFPA NFPA NFPA Adenoma hipofisario no secretor Adenoma ipofisario non secernente Adenoma pituitário não-secretor Adénome hypophysaire non fonctionnel Hypophysenadenom, hormoninaktives Non-functioning pituitary adenoma hrdo:pat_id_12124 neant E23.0 91350 disease Deficit ipofisario da cisti della tasca di Rathke Deficiência Pituitária por quistos da bolsa de Rathke Déficit hipofisario producido por quistes de la bolsa de Rathke Déficit hypophysaire associée à un kyste de la poche de Rathke Hypophysenfunktionsstörung durch Zyste der Rathke Tasche Pituitary deficiency due to Rathke's pouch cysts hrdo:pat_id_12125 131600 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Pituitary%5Bti%5D+OR+Pituitary+Diseases)+(dermoid+cyst+OR+epidermal+cyst) 91351 disease Cisti epidermoidi e dermoidi ipofisarie Hypophysen- und Epidermoidzysten Kystes dermoïde et épidermoïde de l'hypophyse Pituitary dermoid and epidermoid cysts Quistes hipofisarios dermoides y epidermoides Quistos pituitários dermóides e epidermóides hrdo:pat_id_12126 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(brain+neoplasms%5Bmajr%5D+Germinoma)+OR+intracranial+germ+cell+tumor%5Btw%5D 91352 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Germinoma intracraneal Germinoma intracranico Germinome intracrânien Intracranial germinoma Keimzelltumor, intrakranieller Germinom des Gehirns Germinoma del sistema nerovoso centrale Germinoma del sistema nervioso central Germinoma do cérebro Germinoma of the central nervous system Germinome du système nerveux central hrdo:pat_id_12127 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(brain+neoplasms%5Bmajr%5D+OR+intracranial%5Bti%5D)+(Choristoma%5Bmh%5D+OR+Choristoma%5Bti%5D) 91353 disease Choristom Choristoma Choristome Coristoma Coristoma Coristoma hrdo:pat_id_12128 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Hypopituitarism+OR+Pituitary+hormones%2Fdf)+(empty+sella%5Bti%5D+OR+Empty+Sella+Syndrome) 91354 disease Hypopituitarism due to empty sella turcica syndrome Hypopituitarisme associé au syndrome de la selle turcique vide Deficit ipofisario associato alla sindrome della sella turcica vuota Déficit hipofisario producido por el síndrome de la silla turca vacía Déficit hypophysaire associée au syndrome de la selle turcique vide Hypophysenfunktionsstörung durch das ''Empty sella''- Syndrom' Pituitary deficiency due to empty sella turcica syndrome Síndrome de deficiência pituitária por sela turca vazia hrdo:pat_id_12129 10036297 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Sheehan+syndrome%5Btw%5D E23.0 91355 237684005 290653008 C0242342 malformation syndrome Sheehan syndrome Sheehan-Syndrom Sindrome di Sheehan Syndrome de Sheehan Síndrome de Sheehan Síndrome de Sheehan hrdo:pat_id_1213 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 600462 613561 C536101 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28myopath*%5Bti%5D+OR+Myopathies%2C+Structural%2C+Congenital%5Bmh%5D%29+AND+acidosis+AND+anemia G71.3 2598 C1838103 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 MLASA MLASA MLASA MLASA MSA MSA MSA MSA Miopatia - acidosi lattica - anemia sideroblastica Miopatía, acidosis láctica y anemia sideroblástica Myopathie, acidose lactique et anémie sidéroblastique Myopathy, lactic acidosis and sideroblastic anemia Miopatia com acidose láctica e anemia sideroblástica Miopatia mitocondriale - anemia sideroblastica Miopatía mitocondrial con anemia sideroblástica Mitochondrial myopathy and sideroblastic anemia Mitochondriale Myopathie - sideroachrestische Anämie Myopathie mitochondriale et anémie sidéroblastique hrdo:pat_id_12131 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Esophagus%2Fab+OR+esophageal%5Bti%5D)+duplicat*%5Bti%5D Q39.8 91357 group of phenomes Duplicación del esófago Duplication de l'oesophage Duplication of the esophagus Duplicazione dell'esofago Duplicação do esófago Ösophagus-Verdoppelung hrdo:pat_id_12132 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Diverticulosis,+Esophageal+OR+((esophageal%5Bti%5D+OR+oesophageal%5Bti%5D)+diverticul*%5Bti%5D) Q39.6 91358 morphological anomaly Congenital esophageal diverticulum Diverticolo esofageo congenito Diverticule congénital de l'oesophage Divertículo congénito del esófago Divertículo esofágico congénito Ösophagusdivertikel, kongenitaler hrdo:pat_id_12133 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Pulmonary+Surfactants%2Fdf+OR+Pulmonary+Surfactant-Associated+Proteins%2Fdf)+NOT+mouse J84.0 91359 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CPI CPI CPI CPI CPI Chronic pneumonitis of infancy Neumonitis crónica de la infancia Pneumonie, chronische, des Kindesalters Pneumonite crónica da infância Pneumopathie chronique de l'enfance Polmonite cronica dell'infanzia hrdo:pat_id_12134 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Lung+Diseases,+Interstitial+(idiopathic%5Bti%5D+OR+nonspecific%5Bti%5D) J84.8 91364 129452008 C1290344 disease NSIP NSIP NSIP NSIP NSIP Nonspecific idiopathic interstitial pneumonia Pneumonie interstitielle idiopathique non spécifique Pneumonie, interstitielle, idiopathische, unspezifische Pneumonía intersticial, no específica, idiopática Polmonite interstiziale non specifica idiopatica Nonspecific interstitial pneumonia Pneumonia intersticial não-específica Pneumonie interstitielle non spécifique Pneumonie, interstitielle, unspezifische Pneumonía intersticial, no específica Polmonite interstiziale non specifica hrdo:pat_id_12135 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(secondary%5Bti%5D+OR+acquired%5Bti%5D)+(ciliary+dyskinesia%5Bti%5D+OR+Ciliary+Motility+Disorders)+OR+secondary+ciliary+dyskin*%5Btw%5D J98.0 91365 233669000 C0340040 disease Acquired ciliary dyskinesia Discinesia ciliare acquisita Disquinesia ciliar, adquirida Dyskinésie ciliaire acquise SCD SCD SCD SCD Zilien-Dyskinesie, erworbene Discinesia ciliar secundária Discinesia ciliare secondaria Disquinesia ciliar, secundaria Dyskinésie ciliaire secondaire Secondary ciliary dyskinesia Zilien-Dyskinesie, sekundäre hrdo:pat_id_12136 Variabel Variabile Variable Variable Variable Variable Variável 10019860 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=C1+esterase+inhibitor+deficiency+OR+hereditary+angioedema%5Btw%5D D84.1 91378 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 AEH Angio-oedème bradykinique héréditaire Angio-oedème non histaminique héréditaire Angioedema hereditario inducido por bradiquinina Angioedema hereditario no inducido por histamina Angioneurotisches Ödem, familiäres Angioneurotisches Ödem, hereditäres Angioödem, hereditäres, Bradykinin-induziertes Angioödem, hereditäres, nicht-Histamin-induziertes Edema angioneurotico ereditario Edema angioneurotico, forma familiare Edema angioneurótico hereditario Edema angioneurótico, forma familar Familial angioneurotic edema HAE HAE HAE Hereditary angioneurotic edema Hereditary bradykinine-induced angioedema Hereditary non histamine-induced angioedema OANH Oedème angioneurotique familial Oedème angioneurotique héréditaire Angio-oedème héréditaire Angioedema ereditario Angioedema hereditario Angioedema hereditário Angioödem, hereditäres Hereditary angioedema hrdo:pat_id_12137 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta C538173 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28angioedema[ti]+OR+angio+oedema[ti]+OR+angioneurotic+edema%29+NOT+%28hereditary+OR+Genetic+diseases%2C+inborn[mh]+OR+C1-INH+Protein%29 T78.3 91385 C2931758 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown AAE AAE AAE Acquired C1 inhibitor deficiency Acquired angioneurotic edema Acquired bradykinine-induced angioedema Acquired non histamine-induced angioedema Angio-oedème bradykinique acquis Angio-oedème non histaminique acquis Angioedema acquisito indotto dalla bradichinina Angioedema acquisito non indotto dall'istamina Angioedema adquirido inducido por bradiquinina Angioedema adquirido no inducido por histamina Angioneurotisches Ödem, erworbenes Angioödem, erworbenes, Bradykinin-induziertes Angioödem, erworbenes, nicht-Histamin-induziertes Deficiencia adquirida de inhibidor C1 Deficit acquisito dell'inibitore C1 Déficit acquis en C1 inhibiteur Edema angioneurotico acquisito Edema angioneurótico adquirido OANA Oedème angioneurotique acquis Acquired angioedema Angio-oedème acquis Angioedema acquisito Angioedema adquirido Angioedema adquirido Angioödem, erworbenes hrdo:pat_id_12138 132900 607086 607087 608967 611788 613780 614816 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Aortic+Aneurysm,+Thoracic%5Bmajr%5D+OR+thoracic+aortic+aneurysm*%5Btw%5D)+(familial+OR+hereditary+OR+genetics%5Bsh%5D) I71.1 I71.2 91387 malformation syndrome Aneurisma e dissezione aortico/a toracico/a familiare Aneurisma y disección aórtica torácica familiar Familial TAAD TAAD familial Thorakales Aortenaneurysma und/oder Aortendissektion, familiäre(s) Aneurisma aortico toracico familiare Aneurisma aórtico torácico familiar Aneurisma da aorta torácica, forma familiar Anévrisme familial de l'aorte thoracique et dissection aortique Aortenaneurysma, familiäres thorakales Familial thoracic aortic aneurysm and aortic dissection hrdo:pat_id_12139 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 123570 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Cryptophthalm*%5Bti%5D+(isolated+OR+sporadic) Q11.2 91396 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate morphological anomaly <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Criptoftalmia isolada Criptoftalmia isolata Criptoftalmia, aislada Cryptophtalmie isolée Isolated cryptophthalmia Kryptophthalmie, isolierte hrdo:pat_id_12140 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Ankyloblepharon%5Bti%5D+filiform*+NOT+(associated+OR+imperforate+OR+trisomy+OR+cleft+lip) Q10.3 91397 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate morphological anomaly <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anchiloblefaron filiforme congenito isolato Ankyloblepharon filiforme adnatum, isoliertes Ankyloblépharon filiforme adnatum isolé Anquiloblefaro filiforme adnatum, isolado Anquilobléfaron filiforme ad natum, aislado Isolated ankyloblepharon filiforme adnatum hrdo:pat_id_12141 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 178300 300245 10015996 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Ptosis%5Bti%5D+OR+Blepharoptosis%5Bti%5D)+congenital+OR+Blepharoptosis%2Fcn Q10.0 91411 268163008 C0266573 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Congenital ptosis Ptose congénita Ptosi congenita Ptosis congénital Ptosis, congénita Ptosis, kongenitale hrdo:pat_id_12142 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 154600 10064583 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Marcus+Gunn%5Btw%5D Q07.8 91412 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Fenomeno di Marcus-Gunn Fenómeno de Marcus-Gunn Jaw-Winking syndrome Mandibulo-palpebral synkinesis - ptosis Marcus-Gunn phenomenon Marcus-Gunn-Phänomen Phénomène de Marcus-Gunn Syncinésie mandibulo-palpébrale - ptosis Syndrome de Jaw-Winking Marcus-Gunn syndrome Marcus-Gunn-Syndrom Sindrome di Marcus-Gunn Syndrome de Marcus-Gunn Síndrome de Marcus-Gunn Síndrome de Marcus-Gunn invertido hrdo:pat_id_12143 143000 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=horner+syndrome%2Fcn+OR+((Horner's+syndrome%5Bti%5D+OR+Horner+syndrome%5Bti%5D)+congenital) G90.2 91413 disease Claude-Bernard-Horner-Syndrom, kongenitales Congenital Claude-Bernard-Horner syndrome Sindrome congenita di Claude Bernard-Horner Syndrome congénital de Claude-Bernard-Horner Síndrome de Claude-Bernard-Horner congénito Congenital Horner syndrome Horner-Syndrom, kongenitales Sindrome congenita di Horner Syndrome de Horner congénital Síndrome de Horner congénito Síndrome de Horner congénito hrdo:pat_id_12144 132600 D018296 10035040 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Pilomatrixoma%5Bmh%5D+OR+Pilomatrixoma%5Bti%5D D23 91414 274901004 44155009 C0206711 malformation syndrome Epitelioma calcificante de Malherbe Epitelioma calcificante di Malherbe Epithelioma calcificans Malherbe Epithelioma calcificans of Malherbe Tumeur calcifiée de Malherbe Pilomatrixom Pilomatrixoma Pilomatrixoma Pilomatrixoma Pilomatrixoma Pilomatrixome hrdo:pat_id_12145 602089 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Hemangioma,+Capillary%5Bmh%3Anoexp%5D+OR+Capillary+hemangioma%5Bti%5D)+(familial+OR+hereditary+OR+congenital) D18.0 91415 disease Emangioma capillare, forma familiare Familial capillary hemangioma Hemangioma capilar, forma familiar Hemangioma capilar, forma familiar Hämangiom, kapilläres, familiäre Form Hémangiome capillaire familiale hrdo:pat_id_12146 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 103420 601549 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Alacrima%5Bti%5D+congenital%5Bti%5D+OR+(Lacrimal+Apparatus%2Fab%5Bmh%5D+tears%2Fse+congenital) Q10.6 91416 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Alacrima, congénita Alacrimia congenita Alacrimia, isolada, congénita Alacrymie congénitale isolée Alakrimie, isolierte kongenitale Isolated congenital alacrima hrdo:pat_id_12147 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 180550 C535684 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(annular+OR+ring)+(dermoid*%5Bti%5D+OR+Dermoid+Cyst%2Fge)+(Eye+Neoplasms%2Fge+cornea*%5Bti%5D) D31.1 91481 C1867155 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Ring dermoid syndrome Ringdermoid-Syndrom Sindrome del dermoide anulare Síndrome dermoide anular Dermoide anular de la córnea Dermoide anulare della cornea Dermoïde annulaire limbique Dermóide anelar da córnea Ring dermoid of cornea Ringdermoid der Kornea hrdo:pat_id_12148 137600 601631 602482 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Rieger+anomaly%5Btw%5D+OR+Axenfeld+anomaly%5Btw%5D+OR+Axenfeld+Rieger+anomaly%5Btw%5D+OR+Iridogoniodysgenesis+dominant Q13.8 91483 morphological anomaly Anomalia di Axenfeld-Rieger Anomalie de Rieger-Axenfeld Anomalía de Rieger-Axenfeld Axenfeld-Rieger's anomaly Rieger-Axenfeld-Anomalie Anomalia de Rieger-Axenfeld Anomalia di Rieger Anomalie de Rieger Anomalía de Rieger Rieger's anomaly Rieger-Anomalie hrdo:pat_id_12149 249300 309300 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Megalocornea%5Bti%5D+OR+((Cornea%2Fab+OR+Eye+Abnormalities)+Megalocornea))+NOT+mental+retardation Q15.8 91489 morphological anomaly Congenital anterior megalophthalmia Megaloftalmia anterior congénita Megaloftalmia anteriore congenita Megalophthalmus anterior, kongenitaler Mégalophtalmie antérieure congénitale Isolated congenital megalocornea Megalocornea isolata congenita Megalocórnea congénita isolada Megalocórnea, aislada, congénita Megalokornea, isolierte kongenitale Mégalocornée isolée congénitale hrdo:pat_id_1215 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 255120 E71.3 156 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CPT IA-Mangel CPT-1A deficiency Carnitin-Palmitoyl-Transferase I-Mangel, hepatischer Carnitine palmitoyl transferase IA deficiency Deficiencia de L-CPT1 Deficiencia de L-CPTI Deficit di CPT-1A Deficit di L-CPT1 Deficit di L-CPTI Deficit di carnitina-palmitoil transferasi IA Deficit epatico di carnitina-palmitoil transferasi 1 Deficit epatico di carnitina-palmitoil transferasi I Déficit de CPT-1A Déficit de carnitina palmitoiltransferasa 1 hepática Déficit de carnitina palmitoiltransferasa I hepática Déficit de carnitina palmitoiltransferasa IA Déficit en CPT-1A Déficit en L-CPT1 Déficit en L-CPTI Déficit en carnitine palmitoyltransférase 1 hépatique Déficit en carnitine palmitoyltransférase I hépatique Déficit en carnitine palmitoyltransférase IA Hepatic carnitine palmitoyl transferase 1 deficiency Hepatic carnitine palmitoyl transferase I deficiency L-CPT1 deficiency L-CPT1-Mangel L-CPTI deficiency Carnitin-Palmitoyl-Transferase I-Mangel Carnitine palmitoyl transferase 1A deficiency Deficit di carnitina-palmitoil transferasi 1A Deficiência de carnitina palmitoiltransferase 1 Déficit de carnitina palmitoiltransferasa 1A Déficit en carnitine palmitoyltransférase 1A hrdo:pat_id_12150 181700 269400 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Sclerocornea%5Bti%5D+OR+(Cornea%2Fab%5Bmajr%5D+Sclerocornea) Q13.3 91490 morphological anomaly Esclerocórnea congénita isolada Esclerocórnea, aislada, congénita Isolated congenital sclerocornea Sclerocornea isolata congenita Sclérocornée isolée congénitale Sklerokornea, isolierte kongenitale hrdo:pat_id_12151 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Congenital+ectropion+uveae+OR+iris+ectropium Q10.1 91491 malformation syndrome Congenital ectropion uveae Ectropion congénital de l'épithélium pigmenté de l'iris Ectropion uveae congenito Ectropion uveae, congénito Ectropión uveal congénito Ektropion uveae, kongenitales hrdo:pat_id_12152 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 115650 115665 115700 115800 115900 116100 116200 116400 116600 116700 116800 212500 302200 600881 601202 601371 601547 601885 604219 604307 605387 605728 605749 607304 609376 609741 610019 610202 610425 610623 610634 611544 611597 612968 613763 615188 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Cataract%2Fcn+NOT+(syndromic+OR+syndrome) Q12.0 91492 disease Cataracte congénitale non syndromique Catarata, congénita, no sindrómica Cataratas congénitas não-sindrómicas Cataratta congenita non sindromica Katarakt, nicht-syndromale, kongenitale Non-syndromic congenital cataract hrdo:pat_id_12153 216800 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=coloboma+cleft+palate+hallux Q87.8 91494 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Coloboma macular - fenda do palato - hallux valgus Coloboma macular - fisura palatina - hallux valgus Coloboma maculare - palatoschisi - alluce valgo Colobome maculaire - fente palatine - hallux valgus Macular coloboma - cleft palate - hallux valgus Makulakolobom - Gaumenspalte - Hallux valgus hrdo:pat_id_12154 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 611308 611311 D054514 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Persistent+hyperplastic+primary+vitreous Q14.0 91495 314270008 44647001 C0266568 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown PFVS PFVS PFVS PFVS PFVS PHPV PHPV PHPV PHPV-Syndrom Persistent fetal vasculature syndrome Persistierende fetale vaskuläre Strukturen Sindrome da persistenza della vascolarizzazione fetale Síndrome de persistencia de la vascularización fetal VPHP Vascularisation foetale persistante Persistance du vitré primitif Persistent hyperplastic primary vitreous Persistierender hyperplastischer primärer Vitreus Vitreo primitivo iperplastico persistente Vítreo primario hiperplásico persistente Vítreo primário hiperplásico persistente hrdo:pat_id_12155 193230 C536677 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Snowflake+vitreoretinal+degeneration+OR+retinal+degeneration+Snowflake H35.5 91496 C1860405 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Schneeflocken-Vitreoretinopathie Degeneración vitreoretiniana tipo copo de nieve Degenerazione vitreoretinica a ''fiocchi di neve'' Degeneração vitreo-retiniana em floco de neve Dégénérescence vitréorétinienne en ''flocons de neige'' Snowflake vitreoretinal degeneration Vitreoretinale 'Schneeflocken'-Degeneration hrdo:pat_id_12157 136480 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(familial+OR+congenital)+(trochlear+nerve+OR+fourth+cranial+nerve)+palsy H49.1 91498 disease Familial congenital palsy of trochlear nerve Paralisi congenita del nervo trocleare, forma familiare Paralisia do nervo troclear, congénita, forma familiar Paralysie congénitale familiale du nerf trochléaire Parálisis congénita del nervio troclear, forma familiar Trochlearislähmung, kongenitale, familiäre Form hrdo:pat_id_12158 607665 C536922 10069034 10069039 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Tubulointerstitial+nephritis+uveitis N10 91500 418839003 C1639520 C2609298 disease Acute tubulointerstitial nephritis and uveitis syndrome Nefrite tubulointerstiziale acuta - uveite Néphrite tubulo-interstitielle et uvéite aiguë Sindrome TINU Síndrome TINU Síndrome de nefritis tubulointersticial aguda y uveitis TINU syndrome TINU, syndrome TINU-Syndrom Tubulointerstitielle Nephritis und Uveitis-Syndrom, akutes Nefrite tubulointerstiziale - uveite Nefritis tubulointersticial y síndrome de uveitis Néphrite tubulo-interstitielle et uvéite Síndrome nefrite túbulo intersticial e uveíte Tubulointerstitial nephritis and uveitis syndrome Tubulointerstitielle Nephritis und Uveitis-Syndrom hrdo:pat_id_12159 Variabel Variabile Variable Variable Variable Variable Variável D008193 10025169 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=lyme+disease%5Bmh%5D+OR+lyme+disease%5Bti%5D A69.2 91546 23502006 C0024198 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Borreliosi di Lyme Borreliosis de Lyme Borréliose de lyme Lyme borreliosis Lyme-Borreliose Doença de Lyme Fiebre de Lyme Lyme disease Lyme-Krankheit Maladie de Lyme Malattia di Lyme hrdo:pat_id_12160 Variabel Variabile Variable Variable Variable Variable Variável D012061 10038300 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=relapsing+fever%5Bmh%5D+OR+Relapsing+fever%5Bti%5D A68 91547 420079008 C0035021 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Febbre ricorrente Febre recorrente Fiebre recurrente Fièvre récurrente Relapsing fever Rückfallfieber hrdo:pat_id_12162 613217 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Intestinal+epithelial+dysplasia%5Btw%5D+OR+Tufting+enteropathy%5Btw%5D+OR+congenital+enteropathy%5Btw%5D P78.3 92050 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown 'Enteropatia a ''ciuffi''' Congenital familial intractable diarrhea with epithelial or epithelium abnormalities Diarrea intratable congénita familiar con anomalías epiteliales Diarrea intrattabile congenita familiare associata ad anomalie epiteliali o dell'epitelio Diarrhée intraitable congénitale familiale avec anomalies épithéliales Enteropatía de Tufting Entéropathie en touffes IED IED IED IED Kongenitale Intraktable Durchfälle mit epithelialen Anomalien Tufting enteropathy Tufting-Enteropathie Displasia do epitélio intestinal Displasia epitelial intestinal Displasia epiteliale intestinale Dysplasie épithéliale intestinale Intestinal epithelial dysplasia Intestinale Epitheliale Dysplasie hrdo:pat_id_12163 10053624 neant Q60.0 93100 55726006 C0266294 morphological anomaly Agenesia renal unilateral Agenesia renal unilateral Agenesia renale unilaterale Agénésie rénale unilatérale Nierenagenesie, unilaterale Unilateral renal agenesis hrdo:pat_id_12164 10049102 neant Q60.3 Q60.4 Q60.5 93101 morphological anomaly Hipoplasia renal Hipoplasia renal Hypoplasie rénale Ipoplasia renale Nierenhypoplasie Renal hypoplasia hrdo:pat_id_12165 neant Q61.4 93108 morphological anomaly Displasia renal Displasia renal, quística Displasia renale Dysplasie rénale Nierendysplasie Renal dysplasia hrdo:pat_id_12166 Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Megacalyces+OR+Megacalycosis)+congenital+OR+Puigvert's+disease%5Btw%5D Q63.8 93109 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown morphological anomaly <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Congenital megacalycosis Megacalicose congénita Megacalicosi congenita Megacalicosis, congénita Megakalikose, kongenitae Mégacalicose congénitale hrdo:pat_id_12167 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Posterior+urethral+valve*%5Btw%5D+(urethra%2Fab+OR+Urogenital+Abnormalities) Q64.2 93110 253900005 C0238506 C0542520 morphological anomaly Posterior urethral valve Urethralklappen, posteriore Valve de l'urètre postérieur Valvola uretrale posteriore Válvula uretral posterior Válvulas de uretra posterior hrdo:pat_id_12168 137920 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Maturity+Onset+Diabetes+of+the+Young%5Btw%5D+(type+v%5Btw%5D+OR+type+5%5Btw%5D)+OR+MODY5+OR+%22MODY+5%22 E11.2 93111 malformation syndrome Cisti renali - diabete giovanile a esordio nella maturità Cisti renali - diabete giovanile con esordio nella maturità Diabete giovanile con esordio nella maturità, tipo 5 Diabetes juvenil de inicio en la madurez tipo 5 Diabète juvénile type 5 Disfunción renal - diabetes de aparición temprana Disfunzione renale - diabete a esordio preoce Dsfunzione renale - diabete a esordio precoce Kystes rénaux - diabète juvénile MODY-Syndrom Typ 5 MODY5 MODY5 MODY5 MODY5 MODY5 Maturity-onset diabetes of the young type 5 Nierendysfunktion - früh einsetzender Diabetes Nierenzysten - MODY-Diabetes Quistes renales - diabetes juvenil de inicio en la madurez RCAD syndrome RCAD-Syndrom Renal cysts - maturity-onset diabetes of the young Renal dysfunction - early-onset diabetes Sindrome RCAD Syndrome RCAD Síndrome RCAD Renal cysts and diabetes syndrome Renale Zysten und Diabetes-Syndrom Sindrome da cisti renali e diabete Syndrome kystes reins-diabète Síndrome de quistes renales y diabetes Síndrome renal - diabetes MODY5 hrdo:pat_id_12169 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis 614455 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=nephropathy+Charcot+Marie+Tooth+disease G60.0 N04.1 93114 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CMTDIE CMTDIE Charcot-Marie-Tooth disease - nephropathy Maladie de Charcot-Marie-Tooth - néphropathie Autosomal dominant intermediate Charcot-Marie-Tooth disease type E Charcot-Marie-Tooth-Krankheit - Nephropathie Doença de Charcot-Marie-Tooth - nefropatia Enfermedad de Charcot-Marie-Tooth - nefropatía Maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante E Malattia di Charcot-Marie-Tooth - nefropatia hrdo:pat_id_1217 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Myopathy+OR+Muscular+Dystrophy%29+mental+retardation+hypospadias G71.8 2601 malformation syndrome Miopatia - atrasomental e de crescimento - hipospadias Miopatia ritardo di crescita ritardo mentale ipospadia Miopatía - retraso de crecimiento - déficit intelectual - hipospadias Myopathie - Wachstumsverzögerung - geistige Retardierung - Hypospadie Myopathie- retard de croissance - déficit intellectuel - hypospadias Myopathy - growth delay - intellectual deficit - hypospadias hrdo:pat_id_12170 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=pauci+immune%5Btw%5D+Glomerulonephritis N05.7 93126 disease Glomerulonefrite pauci-immune Glomerulonefrite pauci-imune Glomerulonefritis, pauciinmune Glomerulonephritis, pauci-immune Glomérulonéphrite pauci-immune Pauci-immune glomerulonephritis hrdo:pat_id_12173 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 277440 neant E83.3 93160 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown HVDRR HVDRR HVDRR HVDRR HVDRR Hereditary vitamin D-resistant rickets Rachitis, Vitamin D-abhängige, Typ II Rachitis, Vitamin D-resistente, Typ II Rachitisme héréditaire résistant à la vitamine D Rachitisme résistant à la vitamine D de type II Rachitisme vitamine D-dépendant de type II Rachitismo dipendente dalla vitamina D, tipo II Rachitismo ereditario resistente alla vitamina D Rachitismo resistente alla vitamina D, tipo II Raquitismo dependiente de vitamina D tipo II Raquitismo hereditario resistente a la vitamina D Raquitismo resistente a la vitamina D tipo II VDDR II VDDR II VDDR II VDDR II VDDR II VDRR II VDRR II VDRR II VDRR II VDRR II Vitamin D-dependent rickets type II Vitamin D-resistant rickets type II Vitamin D-resistente Rachitis, hereditäre Hypocalcemic vitamin D resistant rickets Rachitis, hypokalzämische, Vitamin D-resistente Rachitisme hypocalcémique résistant à la vitamine D Rachitismo ipocalcemico resistente alla vitamina D Raquitismo hipocalcémico resistente a la vitamina D Raquitismo pseudocarencial ou hipocalcémico, tipo 2 hrdo:pat_id_12174 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=transient%5Btw%5D+Pseudohypoaldosteronism N15.8 93164 malformation syndrome TPHA Pseudohipoaldosteronismo Pseudohipoaldosteronismo transitório Pseudohypoaldosteronismus, transienter Pseudohypoaldostéronisme transitoire Pseudoipoaldosteronismo transitorio Transient pseudohypoaldosteronism hrdo:pat_id_12177 neant Q61.4 93172 204951002 C0431697 clinical subtype Displasia renal unilateral Displasia renal unilateral Displasia renale cistica unilaterale Dysplasie rénale unilatérale Nierendysplasie, unilaterale Unilateral renal dysplasia hrdo:pat_id_12178 neant Q61.4 93173 204950001 C0431698 clinical subtype Bilateral renal dysplasia Displasia renal bilateral Displasia renal bilateral Displasia renale cistica bilaterale Dysplasie rénale bilatérale Nierendysplasie, bilaterale hrdo:pat_id_12179 neant Q63.8 93176 clinical subtype Megacalicose congénita unilateral Megacalicosi congenita unilaterale Megacalicosis, congénita, unilateral Megakalikose, kongenitale, unilaterale Mégacalicose congénitale unilatérale Unilateral congenital megacalycosis hrdo:pat_id_12180 neant Q63.8 93177 clinical subtype Congenital bilateral megacalycosis Megacalicose congénita bilateral Megacalicosi congenita bilaterale Megacalicosis, congénita, bilateral Megakalikose, kongenitale, bilaterale Mégacalicose congénitale bilatérale hrdo:pat_id_12181 neant Q79.4 93178 clinical subtype 'Sindrome ''Prune belly'', forma parziale' Barriga de ameixa seca (prune belly), síndrome, forma parcial Partial prune belly syndrome Prune belly-Syndrom, partielles Syndrome de 'prune belly' partiel Síndrome de abdomen en ciruela pasa forma parcial hrdo:pat_id_12187 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant N04.1 93206 etiological subtype Idiopathic steroid-sensitive nephrotic syndrome with focal segmental glomerulosclerosis Nephrotisches Syndrom, idiopathisches steroid-sensitives, mit fokal-segmentaler Glomerulosklerose Sindrome nefrosica idiopatica steroido-sensibile con glomerulosclerosi segmentale focale Syndrome néphrotique idiopathique cortico-sensible avec glomérulosclérose segmentaire focale Síndrome nefrótico idiopático, sensible a esteroides, con glomeruloesclerosis segmentaria focal Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis Nephrotisches Syndrom, idiopathisches steroid-sensitives, mit fokal-segmentaler Hyalinose Sindrome nefrosica idiopatica steroido-sensibile con ialinosi segmentale focale Syndrome néphrotique idiopathique cortico-sensible avec hyalinose segmentaire focale Síndrome nefrótico idiopático com hialinose segmentar e focal, sensível aos esteróides Síndrome nefrótico idiopático, sensible a esteroides, con hialinosis focal hrdo:pat_id_12188 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant N04.0 93207 etiological subtype Steroid-sensitive MCNS Syndrome néphrotique idiopathique cortico-sensible à LGM Idiopathic steroid-sensitive nephrotic syndrome with minimal change Nephrotisches Syndrom mit minimaler glomerulärer Läsion (MCNS) Sindrome nefrosica steroido-sensibile con lesioni minime (MCNS) Syndrome néphrotique idiopathique cortico-sensible à lésions glomérulaires minimes Síndrome nefrótico com alterações mínimas, sensível aos esteróides (MCNS) Síndrome nefrótico por cambios mínimos (MCNS), sensible a esteroides hrdo:pat_id_12189 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant N04.3 93209 disease Idiopathic steroid-sensitive nephrotic syndrome with diffuse mesangial proliferation Nephrotisches Syndrom, idiopathisches steroid-sensitives, mit diffuser mesangialer Proliferation Sindrome nefrosica idiopatica steroido-sensibile con proliferazione mesangiale diffusa Syndrome néphrotique idiopathique cortico-sensible avec prolifération mésangiale diffuse Síndrome nefrótico idiopático com proliferação mesangial difusa, sensível aos esteróides Síndrome nefrótico idiopático, sensible a esteroides, con proliferación mesangial difusa hrdo:pat_id_12191 603278 603965 607832 610725 612551 613237 614131 614196 neant N04.1 93213 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis Nephrotisches Syndrom, familiäres idiopathisches steroid-resistentes, mit fokal-segmentaler Glomerulosklerose Sindrome nefrosica idiopatica steroido-resistente con glomerulosclerosi focale segmentale, forma familiare Syndrome néphrotique idiopathique familial cortico-résistant avec glomérulosclérose segmentaire focale Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis Nephrotisches Syndrom, familiäres idiopathisches steroid-resistentes, mit fokal-segmentaler Hyalinose Sindrome nefrosica idiopatica steroido-resistente con ialinosi focale segmentale, forma familiare Syndrome néphrotique idiopathique familial cortico-résistant avec hyalinose segmentaire focale Síndrome nefrótico idiopático com hialinose segmentar e focal, resistente aos esteróides, forma familiar Síndrome nefrótico, idiopático, resistente a esteroides, con hialinosis segmentaria focal, forma familiar hrdo:pat_id_12192 neant N04.3 93214 etiological subtype Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation Nephrotisches Syndrom, familiäres idiopathisches steroid-resistentes, mit diffuser mesangialer Proliferation Sindrome nefrosica idiopatica steroido-resistente con proliferazione mesangiale diffusa, forma familiare Syndrome néphrotique idiopathique familial cortico-résistant avec prolifération mésangiale diffuse Síndrome nefrótico idiopático com proliferação mesangial difusa, familiar, resistente aos esteróides Síndrome nefrótico, idiopático, resistente a esteroides, con proliferación mesangial difusa, forma familiar hrdo:pat_id_12193 600995 neant N04.0 93216 etiological subtype Syndrome néphrotique idiopathique familial cortico-résistant à LGM Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes Nephrotisches Syndrom, familiäres idiopathisches steroid-resistentes, mit Minimalläsionen Sindrome nefrosica idiopatica steroido-resistente con minime alterazioni, forma familiare Syndrome néphrotique idiopathique familial cortico-résistant à lésions glomérulaires minimes Síndrome nefrótico idiopático com alterações mínimas, resistente aos esteróides, forma familiar Síndrome nefrótico, idiopático, resistente a esteroides, con cambios mínimos, forma familiar hrdo:pat_id_12194 249660 256370 610725 neant N04.8 93217 etiological subtype Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis Nephrotisches Syndrom, familiäres idiopathisches steroid-resistentes, mit diffuser mesangialer Sklerose Sindrome nefrosica idiopatica steroido-resistente con sclerosi mesangiale diffusa, forma familiare Syndrome néphrotique idiopathique familial cortico-résistant avec sclérose mésangiale diffuse Síndrome nefrótico idiopático com esclerose mesangial difusa, resistente aos esteróides, forma familiar Síndrome nefrótico, idiopático, resistente a esteroides, con esclerosis mesangial difusa, forma familiar hrdo:pat_id_12195 neant N04.1 93218 etiological subtype Nephrotisches Syndrom, idiopathisches steroid-resistentes, mit fokal-segmentaler Glomerulosklerose, sporadische Form Sindrome nefrosica idiopatica steroido-resistente con glomerulosclerosi focale segmentale, forma sporadica Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis Syndrome néphrotique idiopathique sporadique cortico-résistant avec glomérulosclérose segmentaire focale Nephrotisches Syndrom, idiopathisches steroid-resistentes, mit fokal-segmentaler Hyalinose, sporadische Form Sindrome nefrosica idiopatica steroido-resistente con ialinosi focale segmentale, forma sporadica Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis Syndrome néphrotique idiopathique sporadique cortico-résistant avec hyalinose segmentaire focale Síndrome nefrótico idiopático com hialinose segmentar e focal, resistente aos esteróides, forma esporádica Síndrome nefrótico, idiopático, resistente a esteroides, con hialinosis segmentaria focal, forma esporádica hrdo:pat_id_12196 neant N04.8 93220 etiological subtype Nephrotisches Syndrom, idiopathisches steroid-resistentes, mit diffuser mesangialer Sklerose, sporadische Form Sindrome nefrosica idiopatica steroido-resistente con sclerosi mesangiale diffusa, forma sporadica Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis Syndrome néphrotique idiopathique sporadique cortico-résistant avec sclérose mésangiale diffuse Síndrome nefrótico idiopático com esclerose mesangial difusa, resistente aos esteróides, forma esporádica Síndrome nefrótico, idiopático, resistente a esteroides, con esclerosis mesangial difusa, forma esporádica hrdo:pat_id_12197 neant N04.0 93221 etiological subtype Syndrome néphrotique idiopathique sporadique cortico-résistant à LGM Nephrotisches Syndrom, idiopathisches steroid-resistentes, mit glomerulärer Minimalläsion, sporadische Form Sindrome nefrosica idiopatica steroido-resistente con minime alterazioni, forma sporadica Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes Syndrome néphrotique idiopathique sporadique cortico-résistant à lésions glomérulaires minimes Síndrome nefrótico idiopático com alterações mínimas, resistente aos esteróides, forma esporádica Síndrome nefrótico, idiopático, resistente a esteroides, con cambios mínimos, forma esporádica hrdo:pat_id_12198 neant N04.3 93222 disease Nephrotisches Syndrom, idiopathisches steroid-resistentes, mit diffuser mesangialer Proliferation, sporadische Form Sindrome nefrosica idiopatica steroido-resistente con proliferazione mesangiale diffusa, forma sporadica Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation Syndrome néphrotique idiopathique sporadique cortico-résistant avec prolifération mésangiale diffuse Síndrome nefrótico, idiopático com proliferação mesangial difusa, resistente a esteróides, forma esporádica Síndrome nefrótico, idiopático, resistente a esteroides, con proliferación mesangial difusa, forma esporádica hrdo:pat_id_12199 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 300623 neant G11.2 93256 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 FXTAS syndrome Sindrome FXTAS Syndrome FXTAS Síndrome FXTAS Fragile X-associated tremor/ataxia syndrome Fragiles X-Tremor-Ataxie-Syndrom Sindrome dell'X fragile con tremore/atassia Syndrome tremblement-ataxie lié à une prémutation de l'X fragile Síndrome de ataxia/temblor asociado al X frágil Síndrome de tremor/ataxia associado ao X frágil hrdo:pat_id_122 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 180200 D012175 10038916 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22retinoblastoma%22%5BMeSH+Terms%5D+OR+%28Retinoblastoma%5BTi%5D+NOT+medline%5Bsb%5D%29 C69.2 790 19906005 370967009 C0035335 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Retinoblastom Retinoblastoma Retinoblastoma Retinoblastoma Retinoblastoma Rétinoblastome hrdo:pat_id_12201 neant Q87.0 93258 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype Classic Pfeiffer syndrome Pfeiffer-Syndrom, klassisches Syndrome de Pfeiffer classique Pfeiffer syndrome type 1 Pfeiffer-Syndrom Typ 1 Sindrome di Pfeiffer, tipo 1 (sindrome di Pfeiffer classica) Syndrome de Pfeiffer type 1 Síndrome de Pfeiffer tipo 1 (forma clásica) Síndrome de Pfeiffer tipo 1 (síndrome de Pfeiffer clássico) hrdo:pat_id_12202 neant Q87.0 93259 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype Pfeiffer syndrome type 2 Pfeiffer-Syndrom Typ 2 Sindrome di Pfeiffer, tipo 2 Syndrome de Pfeiffer type 2 Síndrome de Pfeiffer tipo 2 Síndrome de Pfeiffer tipo 2 hrdo:pat_id_12203 neant Q87.0 93260 clinical subtype Pfeiffer syndrome type 3 Pfeiffer-Syndrom Typ 3 Sindrome di Pfeiffer, tipo 3 Syndrome de Pfeiffer type 3 Síndrome de Pfeiffer tipo 3 Síndrome de Pfeiffer tipo 3 hrdo:pat_id_12205 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 612247 neant Q75.1 93262 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Crouzono-dermoskeletal syndrome Sindrome dermoscheletrica di Crouzon Síndrome dermoesquelético de Crouzon Crouzon syndrome - acanthosis nigricans Crouzon-Syndrom - Acanthosis nigricans Sindrome di Crouzon - acanthosis nigricans Syndrome de Crouzon - acanthosis nigricans Síndrome de Crouzon - acantose nigricans (síndrome crouzonodermoesquelético) Síndrome de Crouzon - acantosis nigricans hrdo:pat_id_12210 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 607161 neant Q87.8 93267 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cloverleaf skull - multiple congenital anomalies Cranio a trifoglio - anomalie congenite multiple Cráneo en hoja de trébol - anomalías congénitas múltiples Crâne en trèfle - anomalies congénitales multiples Crânio em trevo - anomalia congénitas múltiplas Kleeblattschädel - multiple kongenitale Anomalien hrdo:pat_id_12211 269860 neant Q77.2 93268 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Kurzrippen-Polydaktylie-Syndrom Typ 4 Short rib-polydactyly syndrome type 4 Sindrome costa corta-polidattilia, tipo 4 Syndrome des côtes courtes-polydactylie type 4 Síndrome de polidactilia y costillas cortas de tipo 4 Kurzrippen-Polydaktylie-Syndrom Typ Beemer-Langer Short rib-polydactyly syndrome, Beemer-Langer type Sindrome costa corta-polidattilia, tipo Beemer-Langer Syndrome des côtes courtes-polydactylie type Beemer-Langer Síndrome costelas curtas-polidactilia, tipo Beemer-Langer (tipo 4) Síndrome de polidactilia y costillas cortas de tipo Beemer-Langer hrdo:pat_id_12212 263520 615087 neant Q77.2 93269 72922008 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Kurzrippen-Polydaktylie-Syndrom Typ 2 Short rib-polydactyly syndrome type 2 Sindrome costa corta-polidattilia, tipo 2 Syndrome des côtes courtes-polydactylie type 2 Síndrome de polidactilia y costillas cortas de tipo 2 Kurzrippen-Polydaktylie-Syndrom Typ Majewski Short rib-polydactyly syndrome, Majewski type Sindrome costa corta-polidattilia, tipo Majewski Syndrome des côtes courtes-polydactylie type Majewski Síndrome costelas curtas-polidactilia, tipo Majewski (tipo 2) Síndrome de polidactilia y costillas cortas de tipo Majewski hrdo:pat_id_12213 263530 neant Q77.2 93270 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Kurzrippen-Polydaktylie-Syndrom Typ 1 Short rib-polydactyly syndrome type 1 Sindrome costa corta-polidattilia, tipo 1 Syndrome des côtes courtes-polydactylie type 1 Síndrome de polidactilia y costillas cortas de tipo 1 Kurzrippen-Polydaktylie-Syndrom Typ Saldino-Noonan Short rib-polydactyly syndrome, Saldino-Noonan type Sindrome costa corta-polidattilia, tipo Saldino-Noonan Syndrome des côtes courtes-polydactylie type Saldino-Noonan Síndrome costelas curtas-polidactilia tipo Saldino-Noonan (tipo 1) Síndrome de polidactilia y costillas cortas de tipo Saldino-Noonan hrdo:pat_id_12214 263510 C537602 neant Q77.2 93271 254051008 C0432197 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Kurzrippen-Polydaktylie-Syndrom Typ 3 Short rib-polydactyly syndrome type 3 Sindrome costa corta-polidattilia, tipo 3 Syndrome des côtes courtes - polydactylie type 3 Síndrome de polidactilia y costillas cortas de tipo 3 Kurzrippen-Polydaktylie-Syndrom Typ Verma-Naumoff Short rib-polydactyly syndrome, Verma-Naumoff type Sindrome costa corta-polidattilia, tipo Verma-Naumoff Syndrome des côtes courtes - polydactylie type Verma-Naumoff Síndrome costelas curtas-polidactilia tipo Verma-Naumoff (tipo 3) Síndrome de polidactilia y costillas cortas de tipo Verma-Naumoff hrdo:pat_id_12216 156830 187601 neant Q77.1 93274 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype 'Cranio a ''trifoglio'' - displasia ossea micromelica' Cloverleaf skull - micromelic bone dysplasia Cráneo en hoja de trébol - micromelic bone dysplasia Crâne en trèfle - dysplasie osseuse micromélique Enanismo tanatofórico - cráneo en hoja de trébol Kleeblattschädel - mikromele Knochendysplasie Kleinwuchs, thanatophorer - Kleeblattschädel Nanisme thanatophorique - crâne en trèfle Nanismo tanatoforo - cranio a "trifoglio" Thanatophoric dwarfism - cloverleaf skull Enanismo tanatofórico tipo II Kleinwuchs, thanatophorer, Typ II Nanisme thanatophore type II Nanismo tanatoforo, tipo 2 Nanismo tanatofórico tipo II Thanatophoric dwarfism type II hrdo:pat_id_12217 273680 C536506 neant Q77.1 93275 C1848865 clinical subtype Displasia tanatofora, variante Glasgow Displasia tanatofórica, tipo Glasgow Displasia tanatofórica, variante de Glasgow Kleinwuchs, thanatophorer, Glasgow-Variante Nanisme thanatophore type Glasgow Thanatophoric dysplasia, Glasgow variant hrdo:pat_id_12218 174800 D005359 10036120 neant Q78.1 93276 36517007 C0016065 clinical subtype Enfermedad de Jaffe-Lichtenstein Jaffe-Lichtenstein disease Jaffe-Lichtenstein-Syndrom Maladie de Jaffe-Lichtenstein Malattia di Jaffe-Lichtenstein Displasia fibrosa poliostotica Displasia fibrosa poliostótica Displasia fibrosa poliostótica Dysplasie fibreuse polyostotique Knochendysplasie, fibröse polyostotische Polyostotic fibrous dysplasia hrdo:pat_id_12219 D005358 neant Q78.1 93277 89859004 C0016064 clinical subtype Displasia fibrosa monostotica Displasia fibrosa monostótica Displasia fibrosa monostótica Dysplasie fibreuse monostotique Knochendysplasie, fibröse monostotische Monostotic fibrous dysplasia hrdo:pat_id_1222 163000 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=port-wine+stain%5Bmajr%5D+OR+nev*+flamme*%5Btw%5D+OR+port*wain%5Btw%5D Q82.5 624 morphological anomaly Feuermal Macchie di vino Nevo vinho do Porto Nevus en tache de vin Port-wine stains Portweinfleck Naevus flammeus Nevi flammei Nevi flammei Nevi flammei Nevi flammei Nevi múltiples familiares hrdo:pat_id_12220 604864 neant Q77.7 93279 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis Osteoarthritis, früh beginnende, mit milder spondyloepiphysäre Dysplasie durch COL2A1-Genmutation Osteoartrite a esordio precoce con lieve displasia spondiloepifisaria da mutazioni di COL2A1 Osteoartrite de início precoce com displasia espondiloepifisária ligeira, por mutação no COL2A1 Osteoartritis temprana con displasia espondiloepifisaria leve por la mutación de COL2A1 Ostéoarthrite précoce avec dysplasie spondyloépiphysaire intermédiaire due à une mutation du gène COL2A1 hrdo:pat_id_12221 143095 C535789 neant Q77.7 93280 C1837657 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Disostosi omero-spinale Disostosis humero-espinal Dysostose huméro-spinale Dysostose, humero-spinale Humero-spinal dysostosis Displasia espondiloepifisaria tipo Omani Displasia espondiloepifisária tipo Omani Displasia spondiloepifisaria, tipo Oman Dysplasie spondyloépiphysaire type Omani Dysplasie, spondyloepiphysäre, Typ Omani Spondyloepiphyseal dysplasia, Omani type hrdo:pat_id_12222 612847 neant Q77.7 93282 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia espondiloepifisaria, tipo Paquistaní Displasia espondiloepifisária tipo Pakistani Displasia spondiloepimetafisaria, tipo pachistano Dysplasie spondylo-épi-métaphysaire type Pakistani Dysplasie, spondyloepiphysäre, Typ Pakistani Spondyloepimetaphyseal dysplasia, Pakistani type hrdo:pat_id_12223 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 608361 neant Q77.7 93283 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia espondiloepifisaria, de tipo Kimberley Displasia espondiloepifisária tipo Kimberley Displasia spondiloepifisaria, tipo Kimberley Dysplasie spondyloépiphysaire type Kimberley Dysplasie, spondyloepiphysäre, Typ Kimberley Spondyloepiphyseal dysplasia, Kimberley type hrdo:pat_id_12224 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 184100 271600 271620 313400 600093 609223 neant Q77.7 93284 51952004 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Displasia espondiloepifisaria tardía Displasia espondiloepifisária tardia Displasia spondiloepifisaria tardiva Dysplasie spondylo-épiphysaire tardive Dysplasie, spondyloepiphysäre verzögerte Spondyloepiphyseal dysplasia tarda hrdo:pat_id_12229 147630 C538110 10058902 neant D13.6 93292 C1142432 disease Adenoma pancreatico Adenoma pancreático Adenoma pancreático Adénome pancréatique Pancreatic adenoma Pankreasadenom hrdo:pat_id_1223 256040 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28muscular+atrophy+OR+Amyotrophy%5Bti%5D%29+%28Lipodystrophy%5Bmajr%5D+OR+Lipodystrop*%5Bti%5D+OR+%28lipo%5Bti%5D+muscular+atrophy%5Bti%5D%29%29 L98.8 2615 clinical subtype Amiotrofia - anomalia del tessuto adiposo Amiotrofia - anomalia do tecido adiposo Amiotrofia - anomalía del tejido graso Amyotrophie - Fettgewebeanomalien Amyotrophie - anomalie du tissu graisseux Amyotrophie mit Fettgewebeanomalien Amyotrophy - fat tissue anomaly Contracturas en las articulaciones - atrofia muscular - anemia microcítica - paniculitis inducida por la lipodistrofia Contratture articolari - atrofia muscolare - anemia microcitica - lipodistrofia indotta da panniculite Gelenkkontrakturen - Muskelatrophie - mikrozytische Anämie - Pannikulitis-induzierte Lipodystrophie JMP-Syndrom NNS NNS NNS NNS NNS Osteoperiostite ipertrofica secondaria con eritema pernio Osteoperiostitis hipertrófica secundaria con pernio Ostéopériostite hypertrophique secondaire avec pernio Secondary hypertrophic osteoperiostosis with pernio Sekundäre hypertrophe Osteoperiostose mit Pernio Sindrome JMP Síndrome JMP Nakajo-Nishimura syndrome Nakajo-Nishimura-Syndrom Sindrome di Nakajo-Nishimura Syndrome de Nakajo-Nishimura Síndrome de Nakajo-Nishimura Síndrome de Nakajo-Nishimura hrdo:pat_id_12230 607323 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Okihiro's+Syndrome%5Btw%5D+OR+Okihiro+Syndrome%5Btw%5D+OR+(Duane%5Bti%5D+radial+ray%5Btw%5D) Q87.8 93293 C1623209 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Duane-radial ray syndrome Radiales Fehlbildungssyndrom mit Duane-Retraktionssyndrom Sindrome di Duane - anomalia del raggio radiale Syndrome de Duane - anomalie du rayon radial Síndrome de Duane del rayo radial Síndrome de Duane y del rayo radial Okihiro syndrome Okihiro-Syndrom Sindrome di Okihiro Syndrome d'Okihiro Síndrome de Okihiro Síndrome de Okihiro hrdo:pat_id_12233 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 200610 C536017 neant Q77.0 93296 254061001 C0220685 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Achondrogenesis, Langer-Saldino type Achondrogenèse type Langer-Saldino Acondrogenesi, tipo Langer-Saldino Acondrogénesis de tipo Langer-Saldino Achondrogenesie Typ 2 Achondrogenesis type 2 Achondrogenèse type 2 Acondrogenesi, tipo 2 Acondrogénese tipo 2 Acondrogénesis de tipo 2 hrdo:pat_id_12234 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 200610 neant Q77.0 93297 205483007 C0542428 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hipocondrogenese Hipocondrogénesis Hypochondrogenesie Hypochondrogenesis Hypochondrogenèse Ipocondrogenesi hrdo:pat_id_12235 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 600972 neant Q77.0 93298 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Achondrogenesis, Parenti-Fraccaro type Achondrogenèse type Parenti-Fraccaro Acondrogenesi, tipo Parenti-Fraccaro Acondrogénesis de tipo Parenti-Fraccaro Achondrogenesie Typ 1B Achondrogenesis type 1B Achondrogenèse type 1B Acondrogenesi, tipo 1B Acondrogénese tipo 1B Acondrogénesis de tipo 1B hrdo:pat_id_12236 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 200600 C536015 neant Q77.0 93299 42725006 C0265273 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Achondrogenesis, Houston-Harris type Achondrogenèse type Houston-Harris Acondrogenesi, tipo Houston-Harris Acondrogénesis de tipo Houston-Harris Achondrogenesie Typ 1A Achondrogenesis type 1A Achondrogenèse type 1A Acondrogenesi, tipo 1A Acondrogénese tipo 1A Acondrogénesis de tipo 1A hrdo:pat_id_12238 271530 neant Q76.3 93301 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Brachiolmia di Hobaek, tipo 1 Brachyolmia type 1, Hobaek type Brachyolmie Typ 1, Hobaek-Typ Brachyolmie type 1 de Hobaek Braquiolmia tipo 1, tipo Hobaek Braquiolmia tipo Hobaek hrdo:pat_id_12239 613678 neant Q76.3 93302 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Brachiolmia, tipo Maroteaux Brachyolmia, Maroteaux type Brachyolmie Typ Maroteaux Brachyolmie type Maroteaux Braquiolmia, tipo Maroteaux Brachiolmia, tipo 2 Brachyolmia type 2 Brachyolmie Typ 2 Brachyolmie type 2 Braquiolmia tipo 2 Braquiolmia tipo Maroteaux hrdo:pat_id_1224 170600 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28normokalemic[Tw]+OR+normokalaemic[tw]%29+%28periodic+paralyses[tw]+OR+periodic+paralysis[tw]+OR+paralyses%2C+familial+periodic[Majr%3Anoexp]%29 G72.3 680 40381009 disease NormoKPP NormoKPP NormoKPP NormoKPP NormoPP NormoPP NormoPP NormoPP Normokalemic PP PP normokaliemica Paralisi periodica normokaliemica sensibile al potassio Paralisi periodica, tipo 3 Paralysie périodique normokaliémique sensible au potassium Paralysie périodique type 3 Parálisis periódica de tipo 3 Parálisis periódica normocalémica sensible al potasio Periodic paralysis type 3 Potassium-sensitive normokalemic periodic paralysis Normokalemic periodic paralysis Paralisi periodica normokaliemica Paralisia periódica normocaliémica Paralyse, normokaliämische periodische Paralysie périodique normokaliémique Parálisis periódica normocalémica hrdo:pat_id_12240 271630 neant Q76.3 93303 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Brachiolmia di Toledo, tipo 1 Brachyolmia type 1, Toledo type Brachyolmie Typ 1, Toledo-Typ Brachyolmie type 1 de Toledo Braquiolmia tipo 1, tipo Toledo Braquiolmia tipo Toledo hrdo:pat_id_12241 113500 neant Q76.3 93304 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype Autosomal dominant brachyolmia Brachiolmia autosomica dominante Brachyolmie autosomique dominante Brachiolmia, tipo 3 Brachyolmia type 3 Brachyolmie Typ 3 Brachyolmie type 3 Braquiolmia tipo 3 Braquiolmia tipo autossómico dominante hrdo:pat_id_12244 226900 C535504 neant Q77.3 93307 C1847593 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Displasia poliepifisaria tipo 4 Displasia poliepifisaria, tipo 4 Dysplasie polyépiphysaire type 4 EDM4 EDM4 EDM4 EDM4 MED4 MED4 MED4 MED4 Polyepiphyseal dysplasia type 4 Displasia epifisaria multipla, tipo 4 Displasia epifisaria múltiple tipo 4 Displasia epifisária múltipla, tipo 4 Dysplasie épiphysaire multiple type 4 Dysplasie, epiphysäre multiple, Typ 4 Multiple epiphyseal dysplasia type 4 hrdo:pat_id_12245 132400 C535501 neant Q77.3 93308 C1838280 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Displasia poliepifisaria tipo 1 Displasia poliepifisaria, tipo 1 Dysplasie polyépiphysaire type 1 EDM1 EDM1 EDM1 EDM1 MED1 MED1 MED1 MED1 Polyepiphyseal dysplasia type 1 Displasia epifisaria multipla, tipo 1 Displasia epifisaria múltiple tipo 1 Displasia epifisária múltipla, tipo 1 Dysplasie épiphysaire multiple type 1 Dysplasie, epiphysäre multiple, Typ 1 Multiple epiphyseal dysplasia type 1 hrdo:pat_id_12248 607078 C535505 neant Q77.3 93311 C1846843 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Displasia poliepifisaria tipo 5 Displasia poliepifisaria, tipo 5 Dysplasie polyépiphysaire type 5 EDM5 EDM5 EDM5 EDM5 MED5 MED5 MED5 MED5 Polyepiphyseal dysplasia type 5 Displasia epifisaria multipla, tipo 5 Displasia epifisaria múltiple tipo 5 Displasia epifisária múltipla, tipo 5 Dysplasie épiphysaire multiple type 5 Dysplasie, epiphysäre multiple, Typ 5 Multiple epiphyseal dysplasia type 5 hrdo:pat_id_1225 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 176410 C536961 10063654 10063656 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=LH+receptor+(testotoxicosis+OR+Puberty,+Precocious)+(male+OR+boy+OR+boys) E30.1 3000 237818003 C0342549 C1504412 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Familial gonadotropin-independent male-limited sexual precocity Male limited precocious puberty Puberdade precoce, limitada ao sexo masculino Pubertad precoz masculina independiente de gonadotrofinas Pubertà precoce limitata ai bambini Pubertà precoce limitata ai maschi Puberté précoce indépendante des gonadotrophines chez le garçon Puberté précoce limitée aux garçons Testotoxicose Testotoxikose Puberdade precoce familiar independente da gonadotrofina, limitada ao sexo masculino Pubertas praecox, familiäre gonadotropin-unabhängige männlich-limitierte Pubertà precoce limitata ai maschi, indipendente dalle gonadotropine Testotoxicose Testotoxicosis Testotoxicosis hrdo:pat_id_12250 93313 disease Displasia epifisaria multipla, altri tipi Displasia epifisaria múltiple, otros tipos de Displasia epifisária múltipla, outro tipo Dysplasie épiphysaire multiple non classifiée Dysplasie, epiphysäre multiple (weitere Typen) Multiple epiphyseal dysplasia, unclassified type hrdo:pat_id_12251 184252 C535797 neant Q77.8 93314 C0265280 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia espondilo-metafisaria tipo Kozlowski Displasia espondilometafisária, tipo Kozlowski Displasia spondilometafisaria, tipo Kozlowski Dysplasie spondylo-métaphysaire type Kozlowski Dysplasie, spondylometaphysäre, Typ Kozlowski Spondylometaphyseal dysplasia, Kozlowski type hrdo:pat_id_12252 184255 C535793 neant Q77.8 93315 254078005 C0432221 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia espondilometafisaria tipo Sutcliffe Displasia spondilometafisaria, tipo Sutcliffe Dysplasie spondylométaphysaire, type Sutcliffe Dysplasie, spondylometaphysäre, Typ Sutcliffe Spondylometaphyseal dysplasia, Sutcliffe type 'Displasia spondilometafisaria, tipo ''frattura angolare''' Displasia espondilometafisaria tipo 'fracturas de esquina' Displasia espondilometafisária, tipo 'fractura de esquina' Dysplasie spondylo-métaphysaire type fracture en coins Dysplasie, spondylometaphysäre, Typ 'corner fracture' Spondylometaphyseal dysplasia, 'corner fracture' type hrdo:pat_id_12253 184253 neant Q77.8 93316 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia espondilometafisaria con genu valgo grave Displasia espondilometafisaria tipo Argelia Displasia spondilometafisaria con ginocchio valgo grave Displasia spondilometafisaria, tipo Algerino Dysplasie spondylo-métaphysaire avec genu valgum sévère Dysplasie spondylo-métaphysaire type Algérien Dysplasie, spondylometaphysäre, algerischer Typ Dysplasie, spondylometaphysäre, mit schwerem Genu Valgum Spondylometaphyseal dysplasia with severe genu valgum Spondylometaphyseal dysplasia, Algerian type Displasia espondilometafisaria tipo Schmidt Displasia espondilometafisária, tipo Schmidt Displasia spondilometafisaria, tipo Schmidt Dysplasie spondylo-métaphysaire type Schmidt Dysplasie, spondylometaphysäre, Typ Schmidt Spondylometaphyseal dysplasia, Schmidt type hrdo:pat_id_12254 250220 C535798 neant Q77.8 93317 C1855229 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia espondilo-metafisaria tipo Sedaghatian Displasia espondilometafisária, tipo Sedaghatian Displasia spondilometafisaria, tipo Sedaghatian Dysplasie spondylo-métaphysaire type Sedaghatian Dysplasie, spondylometaphysäre, Typ Sedaghatian Spondylometaphyseal dysplasia, Sedaghatian type hrdo:pat_id_12257 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q71.5 93320 morphological anomaly 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Congenital longitudinal deficiency of the ulna Deficiencia longitudinal ulnar congénita Déficit congénital longitudinal du cubitus Hémimélie ulnaire Klumphand, ulnare Kongenitale longitudinale Ulnadefizienz Main bote cubitale Mano torta ulnare Ulnar clubhand Emimelia ulnare Hemimelia cubital Hemimelia ulnar Hemimelie, ulnare Hémimélie cubitale Ulnar hemimelia hrdo:pat_id_12258 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q71.4 93321 morphological anomaly 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Agénésie du rayon radial Congenital longitudinal deficiency of the radius Deficiencia longitudinal congénita del radio Déficit congénital longitudinal du radius Klumphand, radiale Kongenitale longitudinale Radiusdefizienz Main bote radiale Mano torta radiale Mano zamba radial Radial clubhand Radial ray agenesis Emimelia radiale Hemimelia radial Hemimelia radial Hemimelie, radiale Hémimélie radiale Radial hemimelia hrdo:pat_id_12259 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 275220 neant Q72.5 93322 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Absence de tibia Absence of tibia Aplasia congenita e displasia della tibia con perone intatto Aplasia e displasia da tíbia com fíbula intacta, congénita Aplasia y displasia congénitas de la tibia con peroné intacto Aplasie et dysplasie du tibia avec péroné intact Assenza della tibia Ausencia de tibia Ausência de tíbia Congenital aplasia and dysplasia of the tibia with intact fibula Congenital longitudinal deficiency of the tibia Deficiência longitudinal da tíbia, congénita Difetto longitudinale congenito della tibia Déficit congénital longitudinal du tibia Déficit longitudinal congénito de la tibia Fehlende Tibia Kongenitale Aplasie und Dysplasie der Tibia mit intakter Fibula Tibiafehlbildung, kongenitale longitudinale Emimelia tibiale Hemimelia tibial Hemimelia tibial Hémimélie tibiale Tibia-Hemimelie Tibial hemimelia hrdo:pat_id_1226 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Spina+bifida%5Bti%5D+OR+Spinal+Dysraphism%5Bmajr%5D%29+hypospadias%5Bti%5D Q05.9 3176 malformation syndrome Espina bífida con hipospadias Espinha bífida - hipospadias Spina bifida - Hypospadie Spina bifida - hypospadias Spina bifida - hypospadias Spina bifida ipospadia hrdo:pat_id_12260 neant Q72.6 93323 morphological anomaly 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Congenital longitudinal deficiency of the fibula Deficiencia longitudinal congénita de la fíbula Difetto longitudinale congenito del perone Déficit congénital longitudinal du péroné Hémimélie péronière Reduktionsdefekt der Fibula, kongenitaler longitudinaler Emimelia fibulare Fibular hemimelia Hemimelia fibular Hemimelia peronial Hemimelie, fibuläre Hémimélie fibulaire hrdo:pat_id_12261 244460 neant 93324 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo etiological subtype Autosomal recessive Kenny-Caffey syndrome Kenny-Caffey-Syndrom, autosomal-rezessives Sindrome di Kenny-Caffey, autosomica recessiva Syndrome de Kenny-Caffey autosomique récessif Síndrome de Kenny-Caffey autosómico recesivo Síndrome de Kenny-Caffey, tipo 1 hrdo:pat_id_12262 127000 neant 93325 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate etiological subtype Autosomal dominant Kenny-Caffey syndrome Kenny-Caffey-Syndrom, autosomal-dominantes Sindrome di Kenny-Caffey, autosomica dominante Syndrome de Kenny-Caffey autosomique dominant Síndrome de Kenny-Caffey autosómico dominante Síndrome de Kenny-Caffey, tipo 2 hrdo:pat_id_12264 164745 neant Q78.8 93328 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype Autosomal dominant omodysplasia Omodisplasia, forma autosomica dominante Omodisplasia, forma autossómica dominante Omodisplasia, forma autosómica dominante Omodysplasie autosomique dominante Omodysplasie, autosomal-dominante Form hrdo:pat_id_12265 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 258315 neant Q78.8 93329 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia micromelica - dislocazione del radio Displasia micromélica - dislocación del radio Dysplasie micromélique - dysplasie du radius Dysplasie micromélique - luxation du radius Micromelic dysplasia - dislocation of radius Mikromelie - Radiusdislokation Autosomal recessive omodysplasia Omodisplasia, forma autosomica recessiva Omodisplasia, forma autossómica recessiva Omodisplasia, forma autosómica recesiva Omodysplasie autosomique récessive Omodysplasie, autosomal-rezessive Form hrdo:pat_id_12268 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 260660 C535550 neant Q87.5 93333 C1850040 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Becken-Scapula-Dysplasie, familiäre Cousin syndrome Cousin-Syndrome Dysplasie pelviscapulaire familiale Familial pelvis-scapular dysplasia Syndrome de Cousin Dysplasie pelviscapulaire Dysplasie, pelvi-skapuläre Pelviscapular dysplasia Sindrome di Cousin-Walbraum-Cegarra Síndrome de Cousin-Walbraum-Cegarra Síndrome de Cousin-Walbraum-Cegarra hrdo:pat_id_12269 174200 263450 602085 607324 608562 neant Q69.0 93334 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo morphological anomaly Polidactilia postaxial tipo A Polidactilia pós-axial, tipo A Polidattilia postassiale, tipo A Polydactylie post-axiale type A Polydaktylie, postaxiale, Typ A Postaxial polydactyly type A hrdo:pat_id_1227 D057891 Q92.7 3305 62749002 C0333694 malformation syndrome Tetraploidia Tetraploidia Tetraploidie Tetraploidy Tetraploidía Tétraploïdie hrdo:pat_id_12270 174200 neant Q69.0 93335 morphological anomaly Polidactilia postaxial tipo B Polidactilia pós-axial, tipo B Polidattilia postassiale, tipo B Polydactylie post-axiale type B Polydaktylie, postaxiale, Typ B Postaxial polydactyly type B hrdo:pat_id_12271 174500 neant Q69.1 93336 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate morphological anomaly PPD2 PPD2 PPD2 PPD2 PPD2 Polidactilia preaxial tipo 2 Polidattilia preassiale, tipo 2 Polydactylie préaxiale type 2 Polydaktylie, postaxiale, Typ 2 Preaxial polydactyly type 2 Polidactilia de um polegar trifalângico (PPD2) Polidactilia del pulgar trifalángico Polidattilia del pollice trifalangeo Polydactylie d'un pouce triphalangé Polydactyly of a triphalangeal thumb Polydaktylie des triphalangealen Daumens hrdo:pat_id_12272 174600 neant Q69.0 93337 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate morphological anomaly PPD3 PPD3 PPD3 PPD3 PPD3 Polidactilia preaxial tipo 3 Polidattilia preassiale, tipo 3 Polydactylie de l'index Polydactylie préaxiale type 3 Polydaktylie, postaxiale, Typ 3 Preaxial polydactyly type 3 Duplication de l'index Polidactilia de um dedo indicador (PPD3) Polidactilia del dedo índice Polidattilia del dito indice Polydactyly of an index finger Polydaktylie des Zeigefingers hrdo:pat_id_12273 174700 10063143 neant Q70.4 93338 81330005 84598000 C0265553 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate morphological anomaly PPD4 PPD4 PPD4 PPD4 PPD4 Polidactilia preaxial tipo 4 Polidattilia preassiale, tipo 4 Polydactylie préaxiale type 4 Polydaktylie, postaxiale, Typ 4 Preaxial polydactyly type 4 Polisindactilia Polisindattilia Polissindactilia (PPD4) Polysyndactylie Polysyndactyly Polysyndaktylie hrdo:pat_id_12274 174400 neant Q69.1 93339 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate morphological anomaly PPD1 PPD1 PPD1 PPD1 PPD1 Polidactilia preaxial tipo 1 Polidattilia preassiale, tipo 1 Polydactylie préaxiale type 1 Polydaktylie, postaxiale, 1 Preaxial polydactyly type 1 Polidactilia de pulgar bifalángico Polidactilia do polegar (PPD1) Polisindattilia del pollice bifalangeo Polydactylie d'un pouce biphalangé Polydactyly of a biphalangeal thumb Polydaktylie eines biphalangealen Daumens hrdo:pat_id_1228 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(tetrasom*%5Bti%5D+OR+triplicat*%5Bti%5D+OR+inv+dup%5Bti%5D+OR+duplication%5Bti%5D+OR+inversion%5Bti%5D)+15q11*%5Bti%5D Q99.8 3306 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Chormosome 15 isodicentrique Cromosoma 15 isodicéntrico Inv dup(15) Inv dup(15) Inv dup(15) Isodicentric 15 chromosome Non-distal tetrasomy 15q Non-telomeric tetrasomy 15q Tetrasomia 15q non distale Tetrasomie 15q, nicht distal Tetrasomía no distal 15q Tetrasomía no telomérica 15q Tétrasomie non distale 15q Tétrasomie non télomérique idic(15) idic(15) idic(15) Duplicación/inversión 15q11 Duplication/inversion 15q11 Duplication/inversion 15q11 Duplicazione/inversione 15q11 Duplikation/Inversion 15q11 Tetrassomia 15q hrdo:pat_id_12280 184250 neant Q77.7 93346 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia espondiloepimetafisaria, tipo Strudwick Displasia espondiloepimetafisiária congénita, tipo Strudwick Displasia spondiloepimetafisaria congenita, tipo Strudwick Dysplasie spondylo-épimétaphysaire type Strudwick Dysplasie, spondyloepimetaphysäre, Typ Strudwick Spondyloepimetaphyseal dysplasia congenita, Strudwick type hrdo:pat_id_12281 607095 C538256 neant Q77.7 93347 C1846796 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Displasia espondiloepimetafisaria, tipo Menger Displasia espondiloepimetafisaria, tipo anauxética Displasia spondiloepimetafisaria, tipo Menger Displasia spondiloepimetafisaria, tipo anauxetico Dysplasie spondylo-épimétaphysaire de Menger Dysplasie spondylo-épimétaphysaire type anauxétique Dysplasie, spondyloepimetaphysäre, Typ Menger Dysplasie, spondyloepimetaphysäre, anauxetischer Typ Spondyloepimetaphyseal dysplasia, Menger type Spondyloepimetaphyseal dysplasia, anauxetic type Anauxetic dysplasia Displasia anauxetica Displasia anauxética Displasia anauxética Dysplasie anauxétique Dysplasie, anauxetische hrdo:pat_id_12283 300106 neant Q77.7 93349 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Displasia espondiloepimetafisaria, ligada al X Displasia espondiloepimetafisiária, ligada ao X Displasia spondiloepimetafisaria legata all'X Dysplasie spondylo-épimétaphysaire liée à l'X Dysplasie, spondyloepimetaphysäre, X-chromosomale X-linked spondyloepimetaphyseal dysplasia hrdo:pat_id_12284 271650 neant Q77.7 93351 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown SEMD tipo Irapa SEMD type Irapa SEMD, Irapa type SEMD, tipo Irapa Displasia espondiloepimetafisaria tipo Irapa Displasia espondilometafisária tipo Irapa Displasia spondiloepimetafisaria, tipo Irapa Dysplasie spondylo-épimétaphysaire type Irapa Dysplasie, spondyloepimetaphysäre, Typ Irapa Spondyloepimetaphyseal dysplasia, Irapa type hrdo:pat_id_12285 602557 neant Q77.7 93352 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SEMD tipo Shohat SEMD type Shohat SEMD, Shohat type SEMD, tipo Shohat Displasia espondiloepimetafisaria tipo Shohat Displasia espondiloepimetafisiária, congénita, tipo Iraqi Displasia spondiloepimetafisaria, tipo Shohat Dysplasie spondylo-épimétaphysaire type Shohat Dysplasie, spondyloepimetaphysäre, Typ Shohat Spondyloepimetaphyseal dysplasia, Shohat type hrdo:pat_id_12287 602111 neant Q77.7 93356 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia espondiloepimetafisaria tipo 2 Displasia spondiloepimetafisaria, tipo 2 Dysplasie spondylo-épimétaphysaire type 2 SEMD tipo 2 SEMD tipo Missouri SEMD type 2 SEMD type 2 SEMD type Missouri SEMD, Missouri type SEMD, tipo 2 SEMD, tipo Missouri Spondyloepimetaphyseal dysplasia type 2 Displasia espondiloepimetafisaria tipo Missouri Displasia espondiloepimetafisiária, tipo Missouri Displasia spondiloepimetafisaria, tipo Missouri Dysplasie spondylo-épimétaphysaire type Missouri Dysplasie, spondyloepimetaphysäre, Typ Missouri Spondyloepimetaphyseal dysplasia, Missouri type hrdo:pat_id_12288 271510 neant Q77.7 93357 389161008 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Displasia espondilo-meta-epifisaria, tipo Sponastrime Displasia espondilometaepifisaria, tipo Sponastrime Displasia spondilo-meta-epifisaria, tipo Sponastrime Displasia spondiloepimetafisaria, tipo Sponastrime Dysplasie spondylo-méta-epiphyseal, type Sponastrime Dysplasie, spondyloepimetaphysäre, Typ Sponastrime Spondyloepimetaphyseal dysplasia, Sponastrime type Displasia SPONASTRIME Displasia SPONASTRIME Displasia SPONASTRIME Dysplasie de SPONASTRIME SPONASTRIME dysplasia SPONASTRIME-Dysplasie hrdo:pat_id_12289 271665 neant Q77.7 93358 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Displasia espondiloepimetafisaria, tipo miembros cortos - anomalías de calcificación Displasia espondiloepimetafisiária - membros curtos - calcificação anormal Displasia spondiloepimetafisaria con arti corti e anomala calcificazione Dysplasie spondylo-épimétaphysaire - membres courts - anomalies de calcification Dysplasie, spondyloepimetaphysäre - kurze Extremitäten - anormale Kalzifizierung Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification hrdo:pat_id_12290 271640 neant Q77.7 93359 254100000 C0432243 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Displasia espondiloepimetafisaria con articulaciones laxas tipo 1 Displasia spondiloepimetafisaria con lassità articolare, tipo 1 Dysplasie spondylo-épimétaphysaire avec hyperlaxité ligamentaire type 1 SEMDJL SEMDJL SEMDJL SEMDJL SEMDJL SEMDJL1 SEMDJL1 SEMDJL1 SEMDJL1 Spondyloepimetaphyseal dysplasia with joint laxity type 1 Displasia espondiloepimetafisaria con articulaciones laxas Displasia espondiloepimetafisiária - laxidez articular Displasia spondiloepimetafisaria con lassità articolare Dysplasie spondylo-épimétaphysaire avec hyperlaxité ligamentaire Dysplasie, spondyloepimetaphysäre - Überstreckbarkeit der Gelenke Spondyloepimetaphyseal dysplasia with joint laxity hrdo:pat_id_12291 603546 C535784 neant Q77.7 93360 C1863732 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Displasia espondiloepimetafisaria con articulaciones laxas tipo 2 Displasia espondiloepimetafisaria con articulaciones laxas, tipo Hall Displasia espondiloepimetafisaria con articulaciones laxas, tipo leptodactilia Displasia espondiloepimetafisaria con dislocaciones múltiples, tipo Hall Displasia spondiloepimetafisaria con dislocazioni multiple, tipo Hall Displasia spondiloepimetafisaria con lassità articolare, tipo 2 Displasia spondiloepimetafisaria con lassità articolare, tipo Hall Dysplasie spondylo-épimétaphysaire avec dislocations multiples, type Hall Dysplasie spondylo-épimétaphysaire avec dislocations multiples, type leptodactylique Dysplasie spondylo-épimétaphysaire avec hyperlaxité ligamentaire type 2 Dysplasie spondylo-épimétaphysaire avec hyperlaxité ligamentaire type Hall Dysplasie spondylo-épimétaphysaire avec hyperlaxité ligamentaire, type leptodactylique Dysplasie, spondyloepimetaphysäre, mit multiplen Luxationens, leptodaktyler Typ SEMD-MD SEMD-MD SEMD-MD SEMD-MD SEMDJL2 SEMDJL2 SEMDJL2 SEMDJL2 Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type Spondyloepimetaphyseal dysplasia with joint laxity type 2 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type Spondyloepimetaphysäre Dysplasie mit multiplen Luxationen vom Typ Hall dispalsia spondiloepimetafisaria con lassità articolare, tipo leptodattilico Displasia espondiloepimetafisaria con dislocaciones múltiples Displasia espondiloepimetafisiária com deslocações múltiplas Displasia spondiloepimetafisaria con dislocazioni multiple Dysplasie spondylo-épimétaphysaire avec luxations multiples Dysplasie, spondyloepimetaphysäre, mit multiplen Luxationen Spondyloepimetaphyseal dysplasia with multiple dislocations hrdo:pat_id_12295 neant G03.1 93365 clinical subtype CINCA syndrome with CIAS1 mutations CINCA síndrome con mutaciones CIAS1 CINCA-Syndrom mit CIAS1-Genmutationen Sindrome CINCA con mutazioni di CIAS1 Syndrome CINCA avec mutation de CIAS1 Síndrome CINCA com mutações no gene CIAS1 hrdo:pat_id_12296 neant G03.1 93367 clinical subtype CINCA syndrome without CIAS1 mutations CINCA síndrome sin mutaciones CIAS1 CINCA-Syndrom ohne CIAS1-Genmutationen Sindrome CINCA senza mutazioni di CIAS2 Syndrome CINCA sans mutation de CIAS1 Síndrome CINCA sem mutações no gene CIAS1 hrdo:pat_id_123 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 309000 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%22oculocerebrorenal+syndrome%22%5BTIAB%5D+NOT+Medline%5BSB%5D%29+OR+%22oculocerebrorenal+syndrome%22%5BMeSH+Terms%5D+OR+Lowe+syndrome%5BText+Word%5D E72.0 534 79385002 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Deficit di fosfatildilinositolo 4,5-bifosfato 5-fosfatasi Distrofia oculo-cerebro-renale Distrofia oculocerebrorenale Distrofia óculo-cerebro-renal Dystrophie oculo-cérébro-rénal Dystrophie, okulo-zerebro-renales Déficit de fosfatidilinositol-4,5-bifosfato-5-fosfatasa Déficit en phosphatidylinositol 4,5-biphosphate 5-phosphatase Enfermedad de Lowe Lowe disease Lowe oculo-cerebro-renal syndrome Lowe syndrome Lowe-Syndrom Maladie de Lowe Malattia di Lowe OCR OCR OCR OCR OCR OCRL OCRL OCRL OCRL OCRL Oculo-cerebro-renal dystrophy Oculo-cerebro-renal syndrome Oculocerebrorenal dystrophy Okulo-zerebro-renales Syndrom Lowe Phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency Phosphatidylinositol-(4,5)-Bisphosphat-5-Phosphatase-Mangel Sindrome di Lowe Sindrome oculo-cerebro-renale Sindrome oculo-cerebro-renale di Lowe Syndrome de Lowe Síndrome de Lowe Síndrome óculo-cerebro-renal Síndrome óculo-cerebro-renal de Lowe Síndrome óculo-cerebro-renal de Lowe Oculocerebrorenal syndrome Okulo-zerebro-renales Syndrom Sindrome oculo-cerebro-renale Syndrome oculo-cérébro-rénal Síndrome de Lowe Síndrome óculo-cerebro-renal hrdo:pat_id_1230 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=%22Tetrasomy+9p%22 Q99.8 3310 malformation syndrome Isochromosome 9p Isochromosome 9p surnuméraire Isocromosoma 9p Tetrasomia 9p Tetrasomie 9p Tetrasomie 9p Tetrasomy 9p Tetrasomía 9p Tetrassomia 9p hrdo:pat_id_12300 145980 C537145 10068704 neant E83.5 93372 190868007 C0342637 C1809471 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate etiological subtype FHH tipo 1 FHH type 1 FHH type 1 Familial hypocalciuric hypercalcemia type 1 Hipercalcemia hipocalciúrica familiar tipo 1 Hipercalcémia hipocalciúrica, familiar, tipo 1 Hypercalcémie hypocalciurique familiale type 1 Hyperkalzämie, familiäre hypokalziurische, Typ 1 Ipercalcemia ipocalcinuria familiare, tipo 1 hrdo:pat_id_12306 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 112910 C537092 neant Q73.8 93382 C1862130 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Osebold-Remondini syndrome Sindrome di Osebold-Remondini Syndrome d'Osebold-Remondini Síndrome de Osebold-Remondini Brachidattilia, tipo A6 Brachydactylie type A6 Brachydactyly type A6 Brachydaktylie A6 Braquidactilia A6 Braquidactilia A6 hrdo:pat_id_12307 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 113000 neant Q73.8 93383 389168002 C1300267 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Brachidattilia, tipo B Brachydactylie type B Brachydactyly type B Brachydaktylie Typ B Braquidactilia tipo B Braquidactilia tipo B hrdo:pat_id_12308 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 113100 C537093 neant Q73.8 93384 389169005 C1300268 C1862103 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Brachidattilia, tipo C Brachydactylie type C Brachydactyly type C Brachydaktylie Typ C Braquidactilia tipo C Braquidactilia tipo C hrdo:pat_id_12309 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 113200 neant Q73.8 93385 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 BDD BDD BDD Brachidattilia, tipo D Brachydactylie type D Brachydactyly type D Brachydaktylie Typ D Braquidactilia tipo D Braquidactilia tipo D hrdo:pat_id_1231 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance D014314 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Trisomy+x%5Bti%5D+OR+47xxx%5Bti%5D+OR+triple+x%5Bti%5D+OR+48XXXX%5Bti%5D+OR+Triplo+X%5Bti%5D Q97.0 3375 35111009 C0221033 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 47 XXX, síndrome 47,XXX 47,XXX 47,XXX 47,XXX 47,XXX-Syndrom Síndrome 47 XXX Triple X Triple X Triple X Triplo X Triplo X Triplo-X Triplo-X Triplo-X Triplo-X Triplo-X-Syndrom XXX XXX XXX XXX XXX-Syndrom Trisomia X Trisomie X Trisomie X Trisomy X Trisomía X Trissomia X hrdo:pat_id_12310 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 113300 613382 neant Q73.8 93387 63711009 C0265312 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Brachidattilia, tipo E Brachydactylie type E Brachydactyly type E Brachydaktylie Typ E Braquidactilia tipo E Braquidactilia tipo E hrdo:pat_id_12311 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 112500 607004 615072 C537088 neant Q73.8 93388 C1862151 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Brachidattilia, tipo Farabee Brachydactylie type Farabee Brachydactyly, Farabee type Brachydaktylie Typ Farabee Braquidactilia, tipo Farabee Brachidattilia, tipo A1 Brachydactylie type A1 Brachydactyly type A1 Brachydaktylie Typ A1 Braquidactilia tipo A1 Braquidactilia tipo A1 hrdo:pat_id_12312 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 112900 neant Q73.8 93389 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Brachidattilia, tipo A5 Brachydactylie type A5 Brachydactyly type A5 Brachydaktylie Typ A5 Braquidactilia tipo A5 Braquidactilia tipo A5 hrdo:pat_id_12315 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 112700 C537090 neant Q73.8 93393 C1862140 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate morphological anomaly >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Brachidattilia - clinodattilia Brachimesofalangia V Brachydactylie-clinodactylie Brachydactyly-clinodactyly Brachydaktylie-Klinodaktylie Brachymesophalangie V Brachymesophalangy V Brachymésophalangie V Braquidactilia - clinodactilia Braquidactilia-clinodactilia Braquimesofalangia V Brachidattilia, tipo A3 Brachydactylie type A3 Brachydactyly type A3 Brachydaktylie Typ A3 Braquidactilia tipo A3 Braquidactilia tipo A3 hrdo:pat_id_12316 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 112800 neant Q73.8 93394 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Brachidattilia, tipo Temtamy Brachimesofalangia II eV Brachydactylie type Temtamy Brachydactyly, Temtamy type Brachydaktylie Typ Temtamy Brachymesophalangie II und V Brachymesophalangy II and V Brachymésophalangie II et V Braquidactilia - clinodactilia Braquidactilia tipo Temtamy Braquimesofalangia II e V Baraquidactilia type A4 Brachidattilia, tipo A4 Brachydactylie type A4 Brachydactyly type A4 Brachydaktylie Typ A4 Braquidactilia tipo A4 hrdo:pat_id_12317 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 112440 neant Q73.8 93395 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Brachidattilia di Pitt-Williams Brachidattilia, tipi B ed E combinati Brachydactylie de Pitt-Williams Brachydactylie types B et E combinés Brachydactyly types B and E combined Brachydaktylie Typ B und E kombiniert Braquidactilia tipo B y C combinadas Pitt-Williams brachydactyly Pitt-Williams-Brachydaktylie Ballard syndrome Ballard-Syndrom Sindrome di Ballard Syndrome de Ballard Síndrome de Ballard Síndrome de Ballard hrdo:pat_id_12318 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 112600 C537089 neant Q73.8 93396 C1832702 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Brachidattilia, tipo Mohr-Wriedt Brachydactylie de Mohr-Wriedt Brachydactyly, Mohr-Wriedt type Brachydaktylie Typ Mohr-Wriedt Braquidactilia tipo Mohr-Wriedt Braquidactilia tipo Mohr-Wriedt Brachidattilia, tipo A2 Brachydactylie type A2 Brachydactyly type A2 Brachydaktylie Typ A2 Braquidactilia tipo A2 Braquidactilia tipo A2 hrdo:pat_id_12319 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q73.8 93397 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Brachidattilia, tipo Smorgasbord Brachydactylie de Smorgasbord Brachydactyly, Smorgasbord type Brachydaktylie Typ Smørgasbord Braquidactilia tipo Smorgasbord Brachidattilia, tipo A7 Brachydactylie type A7 Brachydactyly type A7 Brachydactyly type A7 Brachydaktylie Typ A7 Braquidactilia tipo A7 hrdo:pat_id_1232 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance D057885 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=polyploidy+AND+%28Triploid*%5Bti%5D+OR+3N%29+AND+%28humans+OR+human%29 Q92.7 3376 14847005 66651005 C0333693 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Triploidia Triploidia Triploidia Triploidie Triploidy Triploïdie hrdo:pat_id_12320 93398 disease Genochondromatose Typ 2 Genochondromatosis type 2 Genocondromatose tipo 2 Genocondromatosi, tipo 2 Genocondromatosis, tipo 2 Génochondromatose type 2 hrdo:pat_id_12321 neant E77.1 93399 clinical subtype Juvenile sialidosis type 2 Sialidose Typ 2, juvenile Form Sialidose tipo 2, forma juvenil Sialidose type 2 juvénile Sialidosi tipo 2, forma giovanile Sialidosis tipo 2, forma juvenil hrdo:pat_id_12322 neant E77.1 93400 clinical subtype Congenital sialidosis type 2 Sialidose Typ 2, kongenitale Form Sialidose tipo 2, forma congénita Sialidose type 2 congénitale Sialidosi tipo 2, forma congenita Sialidosis tipo 2, forma congénita hrdo:pat_id_12324 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 185900 neant Q70 93402 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate morphological anomaly 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Sindactilia tipo 1 Sindactilia tipo 1 Sindattilia, tipo 1 Syndactylie type 1 Syndactyly type 1 Syndaktylie Typ 1 hrdo:pat_id_12325 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance C538153 neant Q70 93403 C2699746 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Sinpolidattilia Synpolydactylie Synpolydactyly Synpolydaktylie Sindactilia tipo 2 Sindactilia tipo 2 Sindattilia, tipo 2 Syndactylie type 2 Syndactyly type 2 Syndaktylie Typ 2 hrdo:pat_id_12326 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 186100 C538154 neant Q70.1 93404 C1861366 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown SD3 SD3 SD3 SD3 Sindactilia en los dedos 4 y 5 Sindattilia delle IV e V dita Syndactylie du 4ème et 5ème doigt Syndactyly of fingers 4 and 5 Syndaktylie der Finger 4 und 5 Sindactilia de tipo 3 Sindactilia tipo 3 Sindattilia, tipo 3 Syndactylie type 3 Syndactyly type 3 Syndaktylie Typ 3 hrdo:pat_id_12327 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 186200 neant Q70.4 93405 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate morphological anomaly <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Polisindattilia, tipo Hass Polysyndactylie type Haas Polysyndactyly, Haas type Polysyndaktylie Typ Hass Sindactilia tipo 4 Sindactilia tipo 4 Sindattilia, tipo 4 Syndactylie type 4 Syndactyly type 4 Syndaktylie Typ 4 hrdo:pat_id_12328 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 186300 C538155 neant Q70 93406 C1861348 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate morphological anomaly <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Postaxial syndactyly with metacarpal synostosis Postaxiale Syndaktylie mit Metakarpal-Synostose SD5 SD5 SD5 Sindactilia postaxial con sinostosis metacarpiana Sindattilia postassiale con sinostosi metacarpale Syndactylie post-axiale avec synostose métacarpienne Sindactilia de tipo 5 Sindactilia tipo 5 Sindattilia, tipo 5 Syndactylie type 5 Syndactyly type 5 Syndaktylie Typ 5 hrdo:pat_id_1233 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(mosaic*%5Bti%5D+(%22Trisomy+1+%22+OR+chromosome+1%5Bti%5D))+OR+(Chromosomes,+Human,+Pair+1%5Bmh%5D+trisomy%5Bmh%5D+mosaicism) Q92.1 1692 malformation syndrome Mosaic trisomy 1 Mosaik-Trisomie 1 Trisomia 1 in mosaico Trisomie 1 en mosaïque Trisomía 1 en mosaico Trissomia 1 em mosaico hrdo:pat_id_12331 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 610713 neant Q73.8 93409 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Brachidattilia - sindattilia, tipo Zhao Brachydactylie-syndactylie type Zhao Brachydactyly-syndactyly, Zhao type Brachydaktylie-Syndaktylie Typ Zhao Braquidactia-sindactilia, tipo Zhao Braquidactilia-sindactilia, tipo Zhao hrdo:pat_id_12333 93419 group of phenomes Doença óssea, rara Enfermedade ósea, rara Knochenkrankheit, seltene Maladie osseuse rare Malattia ossea rara Rare bone disease hrdo:pat_id_12334 neant Q77.1 Q77.4 93420 group of phenomes Achondroplasia and FGFR3 anomaly Achondroplasie et anomalie de FGFR3 Achondroplasie und FGFR3-Gen-Anomalie Acondroplasia e anomalia di FGFR3 Acondroplasia e anomalia do FGFR3 Acondroplasia y anomalía de FGFR3 hrdo:pat_id_12335 93421 group of phenomes Anomalia del collagene, tipo 2 Anomalia do colagénio, tipo 2 Anomalie du collagène 2 Colágeno tipo 2, anomalía Kollagen-Anomalie Typ 2 Type 2 collagen anomaly hrdo:pat_id_12336 93422 group of phenomes Anomalia del collagene, tipo 11 Anomalia do colagénio, tipo 11 Anomalie du collagène 11 Colágeno tipo 11, anomalía Kollagen-Anomalie Typ 11 Type 11 collagen anomaly hrdo:pat_id_12337 93423 group of phenomes Anomalie de la sulfatation Disturbo della sulfazione Doença da sulfatação Sulfatación, trastorno de Sulfatation disorder Sulfatierungsstörung hrdo:pat_id_12338 93424 group of phenomes Anomalia de Perlecan Anomalia del perlecano Anomalie du perlecan Perlecan anomaly Perlecan, anomalía de Perlecan-Anomalie hrdo:pat_id_12339 93425 group of phenomes Anomalia da Filamina Bone filaminopathy Filaminopathie osseuse Filaminopatia scheletrica Filaminopatía del hueso Knochenfilaminopathie hrdo:pat_id_1234 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(mosaic*%5Bti%5D+(%22Trisomy+12%22+OR+chromosome+12%5Bti%5D))+OR+(Chromosomes,+Human,+Pair+12%5Bmh%5D+trisomy%5Bmh%5D+mosaicism) Q92.1 1698 malformation syndrome Mosaic trisomy 12 Mosaik-Trisomie 12 Trisomia 12 in mosaico Trisomie 12 en mosaïque Trisomía 12 en mosaico Trissomia 12 em mosaico hrdo:pat_id_12340 neant Q77.2 93426 254050009 C0432195 group of phenomes Côtes courtes (avec ou sans polydactylie) SRP Short-rib dysplasia (with or without polydactyly) Displasia costa-corta con o senza polidattilia Displasia, costela curta Displasia, costilla corta, con o sin polidactilia Dysplasie der kurzen Rippen, mit oder ohne Polydaktylie Dysplasie des côtes courtes Short rib dysplasia hrdo:pat_id_12341 neant Q77.8 93427 group of phenomes Displasia metabotropica Displasia metatrópica Displasia, metabotrópica Dysplasie métatropique Dysplasie, metabotropische Metatropic dysplasia hrdo:pat_id_12342 neant Q78.8 93429 group of phenomes Displasia epifisaria multipla e pseudoacondroplasia Displasia epifisiária múltipla e pseudoacondroplasia Displasia, epífisis múltiples, y pseudoacondroplasia Dysplasie multi-épiphysaire et pseudoachondroplasie Dysplasie, epiphysäre multiple, mit Pseudoachondroplasie Multiple epiphyseal dysplasia and pseudoachondroplasia hrdo:pat_id_12343 neant Q78.5 93430 group of phenomes Displasia epifisaria multipla Displasia epifisiária múltipla Displasia, epífisis múltiples Dysplasie métaphysaire multiple Dysplasie, metaphysäre Multiple metaphyseal dysplasia hrdo:pat_id_12345 93434 group of phenomes Displasia espondilodisplásica grave Displasia spondilodisplastica grave Displasia, espondiloplástica, grave Dysplasie spondylo-dysplasique sévère Dysplasie, spondylometaphysäre, schwere Severe spondylodysplastic dysplasia hrdo:pat_id_12346 93435 group of phenomes Displasia espondilodisplásica moderada Displasia espondiloplástica moderada Displasia spondilodisplastica moderata Dysplasie spondylo-dysplasique modérée Dysplasie, spondylodysplastische, moderate Moderate spondylodysplastic dysplasia hrdo:pat_id_12347 neant Q74.8 93436 group of phenomes Acromelic dysplasia Displasia acromelica Displasia acromélica Displasia, acromélica Dysplasie acromélique Dysplasie, akromele hrdo:pat_id_12348 C535658 neant 93437 279082008 C0265278 group of phenomes Acromesomelic dysplasia Displasia acromesomelica Displasia acromesomélica Displasia, acromesomélica Dysplasie acromésomélique Dysplasie, akromesomele hrdo:pat_id_12349 93438 group of phenomes Displasia mesomelica e rizo-mesomelica Displasia mesomélica e rizo-mesomélica Displasia, mesomélica y rizo-mesomélica Dysplasie mésomélique et rhizo-mésomélique Dysplasie, mesomele und rhizo-mesomele Mesomelic and rhizo-mesomelic dysplasia hrdo:pat_id_1235 C538037 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(mosaic*%5Bti%5D+(%22Trisomy+15%22+OR+chromosome+15%5Bti%5D))+OR+(Chromosomes,+Human,+Pair+15%5Bmh%5D+trisomy%5Bmh%5D+mosaicism) Q92.1 1706 C2931707 malformation syndrome Mosaic trisomy 15 Mosaik-Trisomie 15 Trisomia 15 in mosaico Trisomie 15 en mosaïque Trisomía 15 en mosaico Trissomia 15 em mosaico hrdo:pat_id_12350 93439 254095002 C0432238 group of phenomes Bent bone dysplasia Displasia con ossa incurvate Displasia de ossos arqueados Displasia, huesos doblados Dysplasie mit gekrümmten Knochen Dysplasie osseuse avec incurvation des membres hrdo:pat_id_12351 93440 group of phenomes Displasia con ossa sottili Displasia de ossos finos Displasia, huesos delgados Dysplasie avec gracilité osseuse Dysplasie, dünner Knochen Slender bone dysplasia hrdo:pat_id_12352 93441 group of phenomes Displasia con dislocazioni articolari multiple Displasia con múltiples luxaciones articulares Displasia dos ossos com múltiplas luxações articulares Dysplasia of bones with multiple joint dislocations Dysplasie osseuse avec luxations articulaires multiples Dysplasie, spondylometaphysäre, mit multiplen Gelenkdislokationen hrdo:pat_id_12353 D002806 neant Q77.3 93442 278715001 360507004 C0008445 group of phenomes CDP CDP Chondrodysplasia punctata Chondrodysplasia punctata Chondrodysplasie ponctuée Condrodisplasia pontuada Condrodisplasia punctata Condrodisplasia puntata hrdo:pat_id_12354 93443 389236000 C1300205 group of phenomes Displasia osteosclerotica neonatale Displasia osteosclerótica neonatal Displasia, osteosclerótica neonatal Dysplasie, neonatale osteosklerotische Neonatal osteosclerotic dysplasia Ostéosclérose néonatale hrdo:pat_id_12355 93444 group of phenomes Aumento de la densidad ósea, sin modificación de la forma del hueso Aumento della densità ossea senza modifiche della forma dell'osso Bone disease with increased bone density without modification of the bone shape Doença óssea com aumento da densidade óssea sem modificação da forma do osso Knochendichte, erhöhte, ohne Veränderung der Knochengestalt Maladie osseuse condensante sans déformation osseuse hrdo:pat_id_12356 93445 group of phenomes Aumento de la densidad ósea con afectación metafisaria o diafisaria. Aumento della densità ossea con coinvolgimento metafisario e diafisario Bone disease with increased bone density and metaphyseal or diaphyseal involvement Doença óssea com aumento da densidade óssea e envolvimento metafisiário ou diafisiário Knochendichte, erhöhte, mit metaphysärer oder diaphysärer Beteiligung Maladie osseuse condensante avec atteinte diaphysaire et métaphysaire hrdo:pat_id_12357 93446 group of phenomes Bone disease with decreased bone density Diminuzione della densità ossea Disminución de la densidad ósea Doença óssea com diminuição da densidade óssea Knochendichte, erniedrigte Maladie osseuse avec hypodensité des os hrdo:pat_id_12358 93447 group of phenomes Bone disease with defective bone mineralization Difetto della mineralizzazione ossea Doença óssea com deficiência da mineralização óssea Knochenmineralisationsdefekt Maladie osseuse due à un défaut de mineralisation Mineralización ósea, defectuosa hrdo:pat_id_12359 93448 group of phenomes Dysostose multiple Dysostosis multiplex Almacenamiento lisosomal, enfermedad por, con afectación esquelética Doença de armazenamento lisossomal com envolvimento esquelético Lysosomal storage disease with skeletal involvement Lysosomale Speicherkrankheit mit Skelettbeteiligung Maladie lysosomale avec atteinte osseuse Malattia da depositi lisosomiali con coinvolgimento scheletrico hrdo:pat_id_1236 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(mosaic*%5Bti%5D+(%22Trisomy+16%22+OR+chromosome+16%5Bti%5D))+OR+(Chromosomes,+Human,+Pair+16%5Bmh%5D+trisomy%5Bmh%5D+mosaicism) Q92.1 1708 malformation syndrome Mosaic trisomy 16 Mosaik-Trisomie 16 Trisomia 16 in mosaico Trisomie 16 en mosaïque Trisomía 16 en mosaico Trissomia 16 em mosaico hrdo:pat_id_12360 93449 group of phenomes Osteolisi Osteolyse Osteólise rara Osteólisis Ostéolyse rare Rare osteolysis hrdo:pat_id_12361 93450 group of phenomes Bone disease with disorganized development of skeletal components Desarrollo esquelético desorganizado Desenvolvimento desorganizado de esqueleto Maladie osseuse avec développement anarchique d'un élément du squelette Skelettentwicklung, desorganisierte Sviluppo disorganizzato dello scheletro hrdo:pat_id_12362 93451 group of phenomes Cleidocranial dysplasia group Displasia cleidocraniana Displasia cleidocranica Displasia, cleidocranial Dysplasies cleido-crâniennes Kleidokraniale Dysplasien hrdo:pat_id_12363 93452 group of phenomes Craneosinostosis o anomalías de la osificación craneal Craniosténose ou anomalie de l'ossification crânienne Craniosynostosis syndrome or cranial ossification disease Kraniosynostose-Syndrom und kraniale Verknöcherung Sindrome da craniosinostosi e malattia dell'ossificazione cranica Síndrome craniossinostose e doença da ossificação craniana hrdo:pat_id_12364 neant 93453 group of phenomes Disostose com envolvimento predominantemente craniofacial Disostosi con prevalente coinvolgimento craniofacciale Disostosis con afección predominantemente craneofacial Dysostose craniofaciale Dysostose mit vorwiegend kraniofazialer Beteiligung Dysostosis with predominant craniofacial involvement hrdo:pat_id_12365 93454 group of phenomes Disostose com envolvimento predominantemente vertebral e das costelas Disostosi con prevalente coinvolgimento costale e vertebrale Disostosis con afección predominantemente vertebral y costal Dysostose mit vorwiegend vertebraler und kostaler Beteiligung Dysostose vertébrale ou costale Dysostosis with predominant vertebral and costal involvement hrdo:pat_id_12366 93455 group of phenomes Disostose rotuliana Disostosi patellare Disostosis patelar Dysostose rotulienne Dysostose, patellare Patellar dysostosis hrdo:pat_id_12367 93456 group of phenomes Brachydactylie avec ou sans manifestations extra squelettiques Brachydactyly with or without extraskeletal manifestations Brachidattilie Brachydactylies Brachydactyly group Brachydaktylien Braquidactilia Braquidactilias hrdo:pat_id_12368 93457 group of phenomes Non syndromic limb hypoplasia Anomalie réductionnelle des membres non syndromique Extremitätenfehlbildung - Extremitätenhypoplasie Hipoplasia de las extremidades - reducción de extremidades, defecto Hipoplasia dos membros - defeito de redução dos membros Ipoplasia articolare - riduzione anomala degli arti Non syndromic limb reduction defect hrdo:pat_id_12369 93458 group of phenomes Polidactialia-sindactilia-trifalangismo Polidactilia, sindactilia y/o hiperfalangismo Polidattilia, sindattilia e/o iperfalangia Polydactylie, syndactylie et/ou hyperphalangie Polydactyly, syndactyly and/or hyperphalangy Polydaktylie, Syndaktylie und/oder Hyperphalangie hrdo:pat_id_1237 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(mosaic*%5Bti%5D+(%22Trisomy+17%22+OR+chromosome+17%5Bti%5D))+OR+(Chromosomes,+Human,+Pair+17%5Bmh%5D+trisomy%5Bmh%5D+mosaicism) Q92.1 1711 malformation syndrome Mosaic trisomy 17 Mosaik-Trisomie 17 Trisomia 17 in mosaico Trisomie 17 en mosaïque Trisomía 17 en mosaico Trissomia 17 em mosaico hrdo:pat_id_12370 93459 group of phenomes Defecto en la formación de las articulaciones y sinostosis Gelenkfehlentwicklung und Synostose Sinostose ou outro defeito de formação articular Sinostosi e anomalie della formazione ossea Synostose ou autre anomalie du développement des articulations Synostosis or other joint formation defect hrdo:pat_id_12371 neant Q87.3 93460 group of phenomes Großwuchssyndrom Overgrowth syndrome Sindrome da gigantismo Syndrome avec croissance excessive Síndrome de sobrecrecimiento Síndrome de sobrecrescimento hrdo:pat_id_12372 93461 group of phenomes Anomalie chromosomique avec croissance excessive Chromosomal disease with overgrowth Chromosomale Störung mit Großwuchssyndrom Cromossomopatia com sobrecrescimento Enfermedad cromosómica con sobrecrecimiento Malattia cromosomica con gigantismo hrdo:pat_id_12375 93465 group of phenomes Chondrodysplasie létale Chondrodysplasie, letale Condrodisplasia letal Condrodisplasia letale Condrodisplasia, letal Lethal chondrodysplasia hrdo:pat_id_12376 93466 group of phenomes Anomalia óssea das cinturas Anomalie des os des ceintures Anomalie ossee dei cingoli Anomalía ósea de cinturas Knochenanomalie vom Gliedergürteltyp Limb-girdle bone anomaly hrdo:pat_id_12377 93469 group of phenomes Harmonic micromelia Mesomelie, harmonische Micromelia armonica Micromelia armónica Micromelia harmónica Micromélie harmonieuse hrdo:pat_id_12378 93470 group of phenomes Dysharmonic micromelia Mesomelia disarmonica Mesomelie, dysharmonische Micromelia desarmónica Micromelia disarmónica Micromélie dysharmonieuse hrdo:pat_id_12379 93471 group of phenomes Doença metabólica associada a anomalias ósseas, variada Enfermedad metabólica asociada a anomalías óseas misceláneas Maladie métabolique avec atteinte osseuse non classifiée Miscellaneous metabolic disease associated with bone anomaly Sindrome dismorfica mista associata a anomalia ossea Stoffwechselkrankheit, gemischte, mit assoziierter Knochenanomalie hrdo:pat_id_12380 93472 group of phenomes Dysmorphic syndrome associated with bone anomaly Dysmorphie-Syndrom mit assoziierter Knochenanomalie Sindrome dismorfica associata a anomalie ossee Syndrome dysmorphique avec atteinte osseuse Síndrome dismorfológico asociado a anomalías óseas Síndrome dismórfico associado a anomalia óssea hrdo:pat_id_12381 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 607014 neant E76.0 93473 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Hurler-Krankheit MPS1H MPS1H MPS1H MPS1H Mucopolisacaridosis tipo 1H Mucopolisaccaridosi, tipo 1H Mucopolysaccharidose de type 1H Mucopolysaccharidosis type 1H Hurler syndrome Hurler-Syndrom Sindrome di Hurler Syndrome de Hurler Síndrome de Hurler Síndrome de Hurler hrdo:pat_id_12382 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 607016 neant E76.0 93474 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 MPS1S MPS1S MPS1S MPS1S MPS1S Mucopolisacaridosis tipo 1S Mucopolisaccaridosi, tipo 1S Mucopolysaccharidose de type 1S Mucopolysaccharidosis type 1S Mukopolysaccharidose Typ 1S Scheie syndrome Scheie-Krankheit Sindrome di Scheie Syndrome de Scheie Síndrome de Scheie Síndrome de Scheie hrdo:pat_id_12383 Adulte jeune Adultos jóvenes Giovani adulti Jovem adulto Junge Erwachsene Young adult Young adult Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 607015 neant E76.0 93476 26745009 C0086431 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Hurler-Scheie-Variante MPS1H/S MPS1H/S MPS1H/S MPS1H/S MPS1H/S Mucopolisacaridosis tipo 1H/S Mucopolisaccaridosi, tipo 1H/S Mucopolysaccharidose de type 1H/S Mucopolysaccharidosis type 1H/S Mukopolysaccharidose Typ 1H/S Hurler-Scheie syndrome Hurler-Scheie-Syndrom Sindrome di Hurler-Scheie Syndrome de Hurler-Scheie Síndrome de Hurler-Scheie Síndrome de Hurler-Scheie hrdo:pat_id_12387 93545 group of phenomes Anomalie congenite del rene e del tratto urinario Anomalías congénitas del riñón y el tracto urinario CAKUT CAKUT CAKUT CAKUT Congenital anomalies of kidney and urinary tract Anomalie du développement du rein et des voies urinaires Malformación del tracto urinario o renal Malformazione del tratto urinario o renale Malformação renal ou do trato urinário Nieren/Harnwegsfehlbildung Renal or urinary tract malformation hrdo:pat_id_12388 93546 group of phenomes Anomalie non syndromique du développement du rein et des voies urinaires Malformación del tracto urinario o renal, no sindrómico Malformazione non sindromica del tratto urinario o renale Malformação renal ou do trato urinário, não sindrómica Nieren/Harnwegsfehlbildung, nicht-syndromale Nonsyndromic renal or urinary tract malformation hrdo:pat_id_12389 93547 group of phenomes Anomalie syndromique du développement du rein et des voies urinaires Malformación del tracto urinario o renal, sindrómico Malformazione sindromica del tratto urinario o renale Malformação renal ou do trato urinário, sindrómica Nieren/Harnwegsfehlbildung, syndromale Syndromic renal or urinary tract malformation hrdo:pat_id_12390 93548 197679002 group of phenomes Doença glomerular Enfermedad glomerular Glomerular disease Glomerulopathie Malattia glomerulare Néphropathie glomérulaire hrdo:pat_id_12392 93550 group of phenomes Basalmembrandefekt Basalopathie Basement membrane disease Doença membrana basal Enfermedad de la membrana basal Malattia della membrana basale hrdo:pat_id_12393 93551 group of phenomes Doença glomerular, secundária Enfermedad glomerular secundaria Glomerulopathie, sekundäre Malattia glomerulare secondaria Néphropathie glomérulaire secondaire Secondary glomerular disease hrdo:pat_id_12394 614420 neant M32 93552 disease LES de l'enfant SLE, pediatric onset Lupus eritematoso sistemico a esordio pediatrico Lupus eritematoso sistémico, de aparición pediátrica Lupus erythematodes, systemischer, des Kindesalters Lupus érythémateux disséminé de l'enfant Lúpus eritematoso sistémico de início na idade pediátrica Pediatric systemic lupus erythematosus hrdo:pat_id_12396 Variabel Variabile Variable Variable Variable Variable Variável neant D89.1 93554 etiological subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CM tipo II MC type II MC vom Typ II MC, tipo II Type II MC Crioglobulinemia mista tipo II Crioglobulinemia mista, tipo II Crioglobulinemia mixta , tipo II Cryoglobulinémie mixte type II Kryoglobulinämie, gemischte, Typ II Type II mixed cryoglobulinemia hrdo:pat_id_12397 Variabel Variabile Variable Variable Variable Variable Variável neant D89.1 93555 etiological subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CM tipo III MC type III MC vom Typ II I MC, tipo III Type III MC Crioglobulinemia mista tipo III Crioglobulinemia mista, tipo III Crioglobulinemia mixta , tipo III Cryoglobulinémie mixte type III Kryoglobulinämie, gemischte, Typ III Type III mixed cryoglobulinemia hrdo:pat_id_12398 neant D89.8 93556 clinical subtype HCDD HCDD HCDD HCDD Doença de depósitos de cadeias pesadas Enfermedad por depósitos de cadenas pesadas Heavy chain deposition disease Maladie de dépôts des chaînes lourdes Malattia da depositi di catene pesanti Schwerketten-Speicherkrankheit hrdo:pat_id_12399 neant D89.8 93557 clinical subtype LHCDD LHCDD LHCDD Doença de depósitos de cadeias leve e pesadas Enfermedad por depósitos de cadenas pesadas y ligeras Leichtketten- und Schwerketten-Speicherkrankheit Light and heavy chain deposition disease Maladie de dépôts des chaînes légères et lourdes Malattia da depositi di catene pesanti e leggere hrdo:pat_id_124 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 152700 300809 601744 605218 605480 607279 607965 607966 607967 608437 609903 609939 610065 610066 610927 612251 612253 612254 612378 613145 D008180 10042945 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=systemic+lupus+erythematosus%5Bti%5D+OR+lupus+erythematosus,+systemic%5Bmajr%5D M32 536 55464009 C0024141 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 Disseminated lupus erythematosus LEAD LED LES Lupus eritematoso sistémico Lupus systémique Lupus érythémateux aigu disséminé Lupus érythémateux disséminé Lúpus eritematoso sistémico (LES) SLE SLE SLE SLE Lupus eritematoso Lupus eritematoso sistemico Lupus erythematodes, systemischer Lupus érythémateux systémique Lúpus eritematoso Systemic lupus erythematosus hrdo:pat_id_12400 neant D89.8 93558 373604002 clinical subtype LCDD LCDD LCDD LCDD Doença de depósitos de cadeias leves Enfermedad por depósitos de cadenas ligeras Leichtketten-Speicherkrankheit Light chain deposition disease Maladie de dépôts des chaînes légères Malattia da depositi di catene leggere hrdo:pat_id_12401 neant 93559 etiological subtype C3 deposition glomerulonephritis without proliferation Glomerulonefrite com deposição de C3, sem proliferação Glomerulonefrite da deposito di C3 senza proliferazione Glomerulonefritis por deposición de C3 sin proliferación (siglas en inglés) Glomerulonephritis mit C3-Ablagerungen, ohne Proliferation Glomérulonéphrite à dépôts de C3 isolés sans prolifération hrdo:pat_id_12402 105200 neant E85.0 93560 etiological subtype Amiloidosi da apolipoproteina Al Amiloidosi renale ereditaria da variante dell'apolipoproteina AI Amiloidosis apolipoproteína AI Amiloidosis renal hereditaria debido a una variante de la apolipoproteína AI Amylose de l'apolipoprotéine AI Amylose rénale héréditaire due à un variant de l'apolipoprotéine AI Apolipoprotein AI amyloidosis Familial amyloid nephropathy due to Apolipoprotein AI variant Hereditary amyloid nephropathy due to Apolipoprotein AI variant Hereditary renal amyloidosis due to Apolipoprotein AI variant Nefropatia amiloide ereditaria da variante dell'apolipoproteina AI Nefropatia amiloide familiare da variante dell'apolipoproteina AI Nefropatía amiloide familiar debido a una variante de la apolipoproteína AI Nefropatía amiloide hereditaria debido a una variante de la apolipoproteína AI Néphropathie amyloïde familiale due à un variant de l'apolipoprotéine AI Néphropathie amyloïde héréditaire due à un variant de l'apolipoprotéine AI Amiloidose da apolipoproteína AI Amiloidosi renale familiare da variante dell'apolipoproteina AI Amiloidosis renal familiar debida a una variante de la apolipoproteína AI Amylose rénale familiale due à un variant de l'apolipoprotéine AI Apolipoprotein A-I-Amyloidose Familial renal amyloidosis due to Apolipoprotein AI variant hrdo:pat_id_12403 105200 neant E85.0 93561 etiological subtype Amiloidosi da lisozima Amiloidosi renale ereditaria da variante del lisozima Amiloidosis lisozima Amiloidosis renal hereditaria debido a una variante de la lisozima Amylose du lysozyme Amylose rénale héréditaire due à un variant du lysozyme Familial amyloid nephropathy due to lysozyme variant Hereditary amyloid nephropathy due to lysozyme variant Hereditary renal amyloidosis due to lysozyme variant Lysozyme amyloidosis Nefropatia amiloide ereditaria da variante del lisozima Nefropatia amiloide familiare da variante del lisozima Nefropatía amiloide familiar debido a una variante de la lisozima Nefropatía amiloide hereditaria debido a una variante de la lisozima Néphropathie amyloïde familiale due à un variant du lysozyme Néphropathie amyloïde héréditaire due à un variant du lysozyme Amiloidose da lisozima Amiloidosi renale familiare da variante del lisozima Amiloidosis renal familiar debido a una variante de la lisozima Amylose rénale familiale due à un variant du lysozyme Familial renal amyloidosis due to lysozyme variant Lysozym-Amyloidose hrdo:pat_id_12404 105200 neant E85.0 93562 clinical subtype Amiloidosi da catena alfa del fibrinogeno A Amiloidosi renale ereditaria da variante della catena alfa del fibrinogeno A Amiloidosis fibrinógeno A cadena alfa debida a una variante de la cadena alfa del fibrinógeno A Amiloidosis renal hereditaria debida a una variante de la cadena alfa del fibrinógeno A Amylose du fibrinogène A chaîne alpha Amylose rénale héréditaire due à un variant du fibrinogène A chaîne alpha Familial amyloid nephropathy due to fibrinogen A alpha-chain variant Fibrinogen A alpha-chain amyloidosis Hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant Hereditary renal amyloidosis due to fibrinogen A alpha-chain variant Nefropatia amiloide ereditaria da variante della catena alfa del fibrinogeno A Nefropatia amiloide familiare da variante della catena alfa del fibrinogeno A Nefropatía amiloide familiar Nefropatía amiloide hereditaria debida a una variante de la cadena alfa del fibrinógeno A Néphropathie amyloïde familiale due à un variant du fibrinogène A chaîne alpha Néphropathie amyloïde héréditaire due à un variant du fibrinogène A chaîne alpha Amiloidose do fibrinogénio A-alfa Amiloidosi renale familiare da variante della catena alfa del fibrinogeno A Amiloidosis renal familiar debida a una variante de la cadena alfa del fibrinógeno A Amylose rénale familiale due à un variant du fibrinogène A chaîne alpha Familial renal amyloidosis due to fibrinogen A alpha-chain variant Fibrinogen A-alpha-Amyloidose hrdo:pat_id_12406 neant M30.0 93564 clinical subtype PAN de l'enfant PAN, pediatric onset Pediatric polyarteritis nodosa Periarteritis nodosa, de aparición pediátrica Poliarterite nodosa a esordio pediatrico Poliarterite nodosa de início na idade pediátrica Polyarteritis nodosa des Kindesalters Périartérite noueuse de l'enfant hrdo:pat_id_12408 neant M35.0 93566 Pediatric Sjögren syndrome Sindrome di Sjögren a esordio infantile Sjögren-Syndrom des Kindesalters Syndrome de Gougerot-Sjögren de l'enfant Síndrome de Sjögren de aparición pediátrica Síndrome de Sjögren de início na idade pediátrica hrdo:pat_id_12409 neant M34.0 93567 clinical subtype Pediatric systemic scleroderma Sclérose systémique de l'enfant Esclerose sistémica de início na idade pediátrica Esclerosis sistémica, de inicio pediátrico Pediatric systemic sclerosis Sclerosi sistemica ad esordio pediatrico Sclérodermie systémique de l'enfant Systemische Sklerose des Kindesalters hrdo:pat_id_1241 C537109 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Chromosome+20%5Bmh%5D+ring+chromosomes%5Bmh%5D)+OR+ring+chromosome+20%5Btw%5D+OR+ring+20+chromosome%5Btw%5D Q93.2 1445 31325007 C0265487 C2931422 malformation syndrome Anel do cromossoma 21 Chromosome 21 en anneau Cromosoma 21 ad anello Cromosoma 21 en anillo Cromossoma 21 em anel Ring chromosome 21 Ringchromosom 21 hrdo:pat_id_12410 neant M33.2 93568 clinical subtype Juvenile PM PM giovanile PM juvenil PM juvénile Juvenile polymyositis Polimiosite giovanile Polimiosite juvenil Polimiositis juvenil Polymyosite juvénile Polymyositis, juvenile hrdo:pat_id_12411 10068240 neant M31.6 93569 C1527406 clinical subtype Pseudopoliartrite rizomelica Pseudopoliartrite rizomélica Pseudopoliartritis rizomélica Pseudopolyarthrite rhizomélique Pseudopolyarthritis, rhizomelische Rhizomelic pseudopolyarthritis hrdo:pat_id_12413 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 609814 D015432 neant 93571 59479006 C0268743 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo histopathological subtype 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Dense-deposit-Krankheit Enfermedad de depósitos densos Glomérulonéphrite membranoproliférative type 2 Malattia da depositi densi Membranoproliferative glomerulonephritis type 2 Dense deposit disease Glomerulonefrite membranoproliferativa tipo 2 Glomerulonefrite membranoproliferativa, tipo 2 Glomerulonefritis membranoproliferativa tipo 2 Glomerulonephritis, membranoproliferative, Typ 2 Maladie de dépôt dense hrdo:pat_id_12415 D057049 10043645 93573 126729006 C2717961 group of phenomes MAT TMA Microangiopathie thrombotique Microangiopatia trombotica Microangiopatia trombótica Microangiopatía trombótica Mikroangiopathie, thrombotische Thrombotic microangiopathy hrdo:pat_id_12416 612925 neant D58.8 93575 etiological subtype Atypical hemolytic uremic syndrome with C3 anomaly Hämolytisch-urämisches Syndrom, atypische Form mit C3-Anomalie Sindrome emolitico-uremica atipica con anomalia di C3 Syndrome hémolytique et urémique atypique associé à une anomalie C3 Síndrome hemolítico urémico atípico, com anomalia de C3 Síndrome urémico hemolítico, forma atípica, con anomalía C3 hrdo:pat_id_12417 612922 neant D58.8 93576 etiological subtype Atypical hemolytic uremic syndrome with MCP/CD46 anomaly Hämolytisch-urämisches Syndrom, atypische Form mit MCP- oder CD46-Anomalie Sindrome emolitica uremica atipica associata ad anomalia di MCP/CD46 Syndrome hémolytique et urémique atypique associé à une anomalie de MCP/CD 46 Síndrome hemolítico urémico atípico, com anomalia do MCP ou do CD46 Síndrome urémico hemolítico atípico, con anomalía MCP/CD46 hrdo:pat_id_12418 612924 neant D58.8 93578 etiological subtype Atypical hemolytic uremic syndrome with B factor anomaly Hämolytisch-urämisches Syndrom, atypische Form mit B-Faktor-Anomalie Sindrome emolitico-uremica atipica con anomalia del fattore B Syndrome hémolytique et urémique atypique associé à une anomalie du facteur B Síndrome hemolítico urémico atípico, com anomalia do fator B Síndrome urémico hemolítico, forma atípica, con anomalía del factor B hrdo:pat_id_12419 235400 neant D58.8 93579 etiological subtype Atypical hemolytic uremic syndrome with H factor anomaly Hämolytisch-urämisches Syndrom, atypische Form mit H-Faktor-Anomalie Sindrome emolitico-uremica atipica con anomalia del fattore H Syndrome hémolytique et urémique atypique associé à une anomalie du facteur H Síndrome hemolítico urémico atípico, com anomalia do fator H Síndrome urémico hemolítico, forma atípica, con anomalía del factor H hrdo:pat_id_1242 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 220210 C535313 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=3C+syndrome%5Btw%5D+OR+Ritscher+Schinzel%5Btw%5D+OR+Cranio+cerebello+cardiac%5Btw%5D+OR+Craniocerebellocardiac%5Btw%5D Q87.8 7 C0796137 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Craniocerebellocardiac dysplasia Displasia cranio - cerebelo - cardíaca Displasia cranio-cerebello-cardiaca Displasia cranio-cerebelo-cardíaca Dysplasie cranio-cérébello-cardiaque Dysplasie, kardiale kraniozerebelläre Ritscher-Schinzel syndrome Ritscher-Schinzel, síndrome de Ritscher-Schinzel-Syndrom Sindrome di Ritscher-Schinzel Syndrome de Ritscher-Schinzel Síndrome de Ritscher Schinzel Síndrome de Ritscher-Schinzel 3C syndrome 3C-Syndrom Sindrome 3C Syndrome 3C Síndrome 3C Síndrome 3C hrdo:pat_id_12420 612923 neant D58.8 93580 etiological subtype Atypical hemolytic uremic syndrome with I factor anomaly Hämolytisch-urämisches Syndrom, atypische Form mit I-Faktor-Anomalie Sindrome emolitico-uremica atipica con anomalia del fattore I Syndrome hémolytique et urémique atypique associé à une anomalie du facteur I Síndrome hemolítico urémico atípico, com anomalia do fator I Síndrome urémico hemolítico, forma atípica, con anomalía del factor I hrdo:pat_id_12421 235400 neant D58.8 93581 etiological subtype Atypical hemolytic uremic syndrome with antibody anti-factor H Hämolytisch-urämisches Syndrom, atypische Form mit anti-Faktor H- Sindrome emolitico-uremica atipica con anticorpi anti-H Syndrome hémolytique et urémique atypique associé à une mutation du à des anticorps anti-facteur H Síndrome hemolítico urémico atípico, com anticorpos anti-fator H Síndrome urémico hemolítico, forma atípica, con anticuerpos anti factor H hrdo:pat_id_12422 274150 neant M31.3 93583 clinical subtype Sindrome di Upshaw-Schulman Syndrome d'Upshaw-Schulman Síndrome de Upshaw-Schulman Upshaw-Schulman syndrome Upshaw-Schulman-Syndrom Congenital thrombotic thrombocytopenic purpura due to ADAMTS-13 deficiency Porpora trombotica trombocitopenica congenita da deficit di ADAMTS-13 Purpura thrombotique thrombocytopénique congénital associé à un déficit en ADAMTS-13 Púrpura trombocitopénica trombótica (TTP), congénita, por déficit de ADAMTS-13 Púrpura trombocitopénica trombótica congénita, por deficiência de ADAMTS-13 TTP, kongenitale, infolge ADAMTS-13-Mangel hrdo:pat_id_12423 neant M31.3 93585 clinical subtype Acquired thrombotic thrombocytopenic purpura due to anti-ADAMTS 13 antibodies Porpora trombotica trombocitopenica acquisita da anticorpi anti-ADAMTS 13 Purpura thrombotique thrombocytopénique acquis associé aux anticorps anti-ADAMTS 13 Púrpura trombocitopénica trombótica adquirida por deficiencia de anticuerpos ADAMTS-13 Púrpura trombocitopénica trombótica adquirida por déficit de anticuerpos ADAMTS-13 TTP, erworbene, mit anti-ADAMTS 13-Antikörper Acquired thrombotic thrombocytopenic purpura Porpora trombotica trombocitopenica acquisita Purpura thrombotique thrombocytopénique acquis Púrpura trombocitopénica trombótica adquirida Púrpura trombocitopénica trombótica adquirida, por anticorpos anti-ADAMTS 13 Thrombotisch-thrombozytopenische Purpura, erworbene Form hrdo:pat_id_12424 93587 group of phenomes Zystennieren, familiäre Doença quística renal hereditária Familial cystic renal disease Maladie kystique rénale familiale Malattia renale cistica genetica Nierenkrankheit, zystische, hereditäre Quiste renal, genético hrdo:pat_id_12425 604387 613159 614817 neant Q61.5 93589 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Doença renal quística medular, autossómica recessiva, de início tardio Enfermedad renal quística medular, de aparición tardía Late-onset autosomal recessive medullary cystic kidney disease Maladie kystique tardive autosomique récessive de la médullaire rénale Malattia cistica della midollare renale a esordio tardivo Nierenkrankheit, medulläre zystische, spät beginnende hrdo:pat_id_12426 602088 613820 613824 neant Q61.5 93591 clinical subtype Doença renal quística medular, autossómica recessiva, infantil Enfermedad renal quística medular infantil Infantile autosomal recessive medullary cystic kidney disease Maladie kystique infantile autosomique récessive de la médullaire rénale Malattia cistica della midollare renale, forma infantile Nierenkrankheit, medulläre zystische, infantile hrdo:pat_id_12427 256100 606966 611498 614377 neant Q61.5 93592 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Doença renal quística medular, autossómica recessiva, juvenil Enfermedad renal quística medular juvenil Juvenile autosomal recessive medullary cystic kidney disease Maladie kystique juvénile autosomique récessive de la médullaire rénale Malattia cistica della midollare renale, forma giovanile Nierenkrankheit, medulläre zystische, juvenile hrdo:pat_id_12428 93593 group of phenomes Nefropatia secondaria a malattia metabolica da accumulo o altra Nefropatia secundária a doença de armazenamento ou outra doença metabólica Nefropatía secundaria por almacenamiento u otra enfermedad metabólica Nephropathie, sekundäre, durch Speicher- oder Stoffwechselkrankheit Nephropathy secondary to a storage or other metabolic disease Néphropathie secondaire à des maladies de surcharge ou à d'autres maladies métaboliques hrdo:pat_id_12429 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant E88.0 93594 235909002 C0400965 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Alpha-1-Antichymotrypsin-Mangel Alpha-1-antichymotrypsin deficiency Deficit di alpha-1-antichimotripsina Deficiência de alfa-1-antiquimotripsina Déficit de alfa-1-antiquimotripsina Déficit en alpha-1 antichymotrypsine hrdo:pat_id_12431 259900 neant E74.8 93598 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Aciduria glicolica Aciduria glicólica Acidurie glycolique Alanin-Glyoxylat-Aminotransferase-Mangel, peroxisomaler Azidurie, glykolische Deficit di enzima perossisomico alanina-gliossilato aminotransferasi Déficit de la alanina glioxilato aminotransferasa peroxisomal Déficit en alanine-glyoxylate aminotransférase peroxisomale Glycolic aciduria Iperossaluria primitiva, tipo 1 Peroxisomal alanine-glyoxylate aminotransferase deficiency Deficiência de alanina-glioxilato aminotransferase (hiperoxalúria tipo 1) Hiperoxaluria primaria de tipo 1 Hyperoxalurie primitive de type 1 Hyperoxalurie, primäre, Typ 1 Iperossaluria primitiva, tipo 1 Primary hyperoxaluria type 1 hrdo:pat_id_12432 260000 neant E74.8 93599 clinical subtype D-glycerate dehydrogenase deficiency Déficit en D-glycérate déshydrogénase Hiperoxaluria primaria de tipo 2 Hyperoxalurie Typ 2 Iperossaluria primitiva, tipo 2 D-Glycerat-Dehydrogenase-Mangel Deficit di D-glicerato deidrogenasi Deficiência de D-glicerato desidrogenase (hiperoxalúria tipo 2) Déficit de D-glicerato deshidrogenasa Hyperoxalurie primitive de type 2 Primary hyperoxaluria type 2 hrdo:pat_id_12433 613616 neant E74.8 93600 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Hiperoxaluria, tipo no1-no2 Hiperoxalúria tipo não 1 e não 2 Hyperoxalurie (nicht Typ 1 oder 2) Hyperoxalurie primitive type 3 Iperossaluria, tipo non 1-non 2 Primary hyperoxaluria type 3 hrdo:pat_id_12434 278300 neant E79.8 93601 clinical subtype Deficiencia de XDH Deficiencia de XO Deficiencia de XOR Deficiencia de xantina deshidrogenasa Deficiencia de xantina oxidasa Deficiencia de xantina oxidorreductasa Deficit di XDH Deficit di XO Deficit di XOR Deficit di xantina deidrogenasi Deficit di xantina ossidasi Deficit di xantina ossidoreduttasi Déficit de XDH Déficit de XO Déficit de XOR Déficit de xantina deshidrogenasa Déficit de xantina oxidasa Déficit de xantina oxidorreductasa Déficit en XDH Déficit en XO Déficit en XOR Déficit en xanthine déshydrogénase Déficit en xanthine oxydase Déficit en xanthine oxydoréductase XDH deficiency XO deficiency XOR deficiency Xanthin-Dehydrogenase (XDH)-Mangel Xanthin-Oxidase (XO)-Mangel Xanthin-Oxidoreduktase (XOR)-Mangel Xanthine dehydrogenase deficiency Xanthine oxidase deficiency Xanthine oxidoreductase deficiency Xanthinuria type I Xanthinurie Typ I Xanthinurie type I Xantinuria tipo I Xantinuria, tipo I Xantinúria tipo I hrdo:pat_id_12435 603592 neant E79.8 93602 etiological subtype Deficit doppio di xantina deidrogenasi e xantina aldeide ossidasi Doppio deficit di XDH e AOX Déficit combiné en XDH et AOX Déficit combiné en xanthine déshydrogenase et xanthine aldéhyde oxydase Déficit dual de xantina deshidrogenasa y xantina aldehido oxidasa XDH and AOX dual deficiency XDH- und AOX-Mangel, kombinierter Xanthin-Dehydrogenase- und Aldehydoxydase-Mangel, kombinierter Xanthin-Dehydrogenase- und Xanthinoxidase-Mangel Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency Xanthinuria type II Xanthinurie Typ II Xanthinurie type II Xantinuria tipo 2 Xantinuria, tipo 2 Xantinúria tipo II hrdo:pat_id_12436 93603 group of phenomes Renal-tubuläre Störung, genetisch bedingte Doença renal tubular, genética Enfermedad renal tubular rara Malattia dei tubuli renali rara Néphropathie tubulaire rare Rare renal tubular disease Renal-tubuläre Funktionsstörung hrdo:pat_id_12437 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 241200 601678 neant E26.8 93604 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Hyperprostaglandin E syndrome Hyperprostaglandin E-Syndrom SBa Sindrome da iperprostaglandine E Síndrome de hiperprostaglandina E Antenatal Bartter syndrome Bartter-Syndrom, antenatales Sindrome prenatale di Bartter Syndrome de Bartter anténatal Síndrome de Bartter prenatal Síndrome de Bartter, forma pré-natal ou infantil hrdo:pat_id_12438 607364 neant E26.8 93605 clinical subtype Adult Bartter syndrome Bartter syndrome type 3 Bartter-Syndrom Typ 3 Bartter-Syndrom, adultes Sindrome di Bartter, forma adulta Sindrome di Bartter, tipo 3 Syndrome de Bartter de l'adulte Syndrome de Bartter type 3 Bartter-Syndrom, klassische Form Classic Bartter syndrome Sindrome di Bartter, forma classica Syndrome de Bartter ''classique'' Síndrome de Bartter, forma clásica Síndrome de Bartter, forma clássica ou do adulto hrdo:pat_id_12439 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 300539 neant 93606 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 NSIAD NSIAD Nephrogenes Syndrom mit unverhältnismäßiger Antidiurese (NSIAD) Nephrogenic syndrome of inappropriate antidiuresis Sindrome nefrogenica da antidiuresi non appropriata (NSIAD) Syndrome néphrogénique par anti-diurétique inapproprié Síndrome nefrogénico de antidiurese inapropriada (NSIAD) Síndrome nefrogénico de antidiuresis inapropiada (NSIAD) hrdo:pat_id_1244 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 147800 C535332 10063429 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Aase+Smith%5Btw%5D+NOT+%22type+ii%22 Q87.8 916 C0220686 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Aase-Smith I syndrome Aase-Smith I, síndrome de Aase-Smith Syndrom Typ I Hidrocefalia - fenda do palato - artrogripose Hidrocefalia - fisura palatina - contracturas articulares Hidrocefalia - hendidura palatina - rigidez articular Hydrocephalus - cleft palate - joint contractures Hydrocéphalie - fente palatine - raideur articulaire Hydrozephalus - Gaumenspalte - Gelenkkontrakturen Idrocefalo - palatoschisi - rigidità articolare Sindrome di Aase-Smith, tipo 1 Syndrome de Aase-Smith I Síndrome de Aase-Smith I Síndrome de Aase-Smith I Aase-Smith syndrome Aase-Smith-Syndrom Sindrome di Aase-Smith Syndrome de Aase-Smith Síndrome de Aase-Smith Síndrome de Aase-Smith hrdo:pat_id_12440 604278 neant 93607 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype AR pRTA AR pRTA AR pRTA Acidose tubulaire rénale proximale avec anomalies oculaires et déficit intellectuel Acidosis tubular renal proximal con anomalías oculares y déficit intelectual Proximal renal tubular acidosis with ocular abnormalities and intellectual deficit Acidose tubulaire rénale proximale autosomique récessive Acidose tubular renal proximal, com anomalias oculares e atraso mental Acidosi tubulare renale prossimale con anomalie oculari e ritardo mentale Acidosis tubular renal proximal autosómica recesiva Autosomal recessive proximal renal tubular acidosis Azidose, renale tubuläre, proximale, mit Augenanomalien und Intelligenzminderung hrdo:pat_id_12441 179800 neant N25.8 93608 clinical subtype AD dRTA AD dRTA AD dRTA Acidose tubulaire rénale type 1a Acidosis tubular renal tipo 1a Renal tubular acidosis type 1a Acidose tubulaire rénale distale autosomique dominante Acidose tubular renal autossómica dominante Acidosi tubulare renale, autosomica dominante Acidosis tubular renal distal autosómica dominante Autosomal dominant distal renal tubular acidosis Azidose, renale tubuläre, autosomal-dominante hrdo:pat_id_12442 602722 neant N25.8 93609 clinical subtype AR dRTA sans surdité AR dRTA sin pérdida de audición AR dRTA sin sordera AR dRTA without deafness AR dRTA without hearing loss Acidose tubulaire rénale type 1c Acidosis tubular renal distal autosómica recesiva sin pérdida de audición Acidosis tubular renal tipo 1c Autosomal recessive distal renal tubular acidosis without hearing loss Renal tubular acidosis type 1c Acidose tubulaire rénale distale autosomique récessive sans surdité Acidose tubular renal autossómica recessiva Acidosi tubulare renale, autosomica recessiva Acidosis tubular renal distal autosómica recesiva sin sordera Autosomal recessive distal renal tubular acidosis without deafness Azidose, renale tubuläre, autosomal-rezessive hrdo:pat_id_12443 611590 neant N25.8 93610 clinical subtype dRTA avec anémie dRTA con anemia dRTA with anemia Acidose tubulaire rénale distale avec anémie Acidose tubular renal - anemia Acidosi tubulare renale - anemia Acidosis tubular renal distal con anemia Azidose, renale tubuläre - Anämie Distal renal tubular acidosis with anemia hrdo:pat_id_12444 267300 neant N25.8 93611 clinical subtype AR dRTA avec surdité AR dRTA con pérdida de audición AR dRTA con sordera AR dRTA with hearing loss AR dRTA wth deafness Acidose tubulaire rénale type 1b Acidosis tubular renal distal autosómica recesiva con pérdida de audición Acidosis tubular renal tipo 1b Autosomal recessive distal renal tubular acidosis with hearing loss Renal tubular acidosis type 1b Acidose tubulaire rénale distale autosomique récessive avec surdité Acidose tubular renal - surdez Acidosi tubulare renale - sordità Acidosis tubular renal distal autosómica recesiva con sordera Autosomal recessive distal renal tubular acidosis with deafness Azidose, renale tubuläre - Schwerhörigkeit hrdo:pat_id_12445 220100 neant E72.0 93612 etiological subtype Cistinuria, tipo A Cistinuria, tipo A Cistinúria tipo A Cystinuria type A Cystinurie type A Zystinurie Typ A hrdo:pat_id_12446 220100 neant E72.0 93613 etiological subtype Cistinuria, tipo B Cistinuria, tipo B Cistinúria tipo B Cystinuria type B Cystinurie type B Zystinurie Typ B hrdo:pat_id_12447 93614 group of phenomes Disturbi ematologici con coinvolgimento renale Doença hematológica com envolvimento renal Hematological disorder with renal involvement Hämatologische Krankheit mit Nierenbeteiligung Maladie hématologique avec atteinte rénale Trastornos hematológicos con insuficiencia renal hrdo:pat_id_12449 Variabel Variabile Variable Variable Variable Variable Variável 613978 neant D56.0 93616 48553001 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Alfa talassemia intermedia Alfa-talasemia intermedia Alpha-thalassemia intermedia Alpha-thalassémie intermédiaire Enfermedad de la HbH HbH disease HbH-Krankheit Maladie HbH Malattia dell'HbH Thalassémie alpha intermédiaire Doença da hemoglobina H Emoglobinopatia H Enfermedad de la hemoglobina H Hemoglobin H disease Hämoglobin-H-Krankheit Hémoglobinose H hrdo:pat_id_1245 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 600501 C535334 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=ABCD+syndrome%5Bti%5D+OR+%28albinism+AND+Gastrointestinal+Tract/innervation+AND+deafness%29 L81.8 918 C1838099 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Albinism - black lock - cell migration disorder of the neurocytes of the gut - sensorineural deafness ABCD syndrome ABCD-Syndrom Sindrome ABDC Syndrome ABCD Síndrome ABCD Síndrome ABCD hrdo:pat_id_12450 93618 group of phenomes Causa rara di ipertensione Hipertensión debido a una causa rara Hipertensão Hypertension artérielle de cause rare Rare cause of hypertension Seltene Ursache der Hypertension hrdo:pat_id_12451 93619 group of phenomes Nierentumor, seltener Rare renal tumor Tumeur rénale rare Tumor renal, raro Tumor renal, raro Tumore renale raro hrdo:pat_id_12453 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 300009 300554 308990 310468 C538212 neant N25.8 93622 C1848336 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Nefrolitiasi, tipo 1 Nefrolitiasis de tipo 1 Nephrolithiase Typ 2 Nephrolithiasis type 1 Néphrolithiase type 1 Dent disease type 1 Dent-Krankheit Typ 1 Doença de Dent tipo 1 Enfermedad de Dent de tipo 1 Maladie de Dent type 1 Malattia di Dent, tipo 1 hrdo:pat_id_12454 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 300555 neant N25.8 93623 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Nefrolitiasi, tipo 2 Nefrolitiasis de tipo 2 Nephrolithiasis type 2 Néphrolithiase type 2 Dent disease type 2 Dent-Krankheit Typ 2 Doença de Dent tipo 2 Enfermedad de Dent de tipo 2 Maladie de Dent type 2 Malattia di Dent, tipo 2 hrdo:pat_id_12456 93626 group of phenomes Doença renal rara Enfermedad renal, rara Maladie rénale rare Malattia renale rara Nierenkrankheit, seltene Rare renal disease hrdo:pat_id_12458 93665 group of phenomes Autoinflammatorisches Syndrom Autoinflammatory syndrome Sindrome autoinfiammatoria Syndrome autoinflammatoire Síndrome autoinflamatorio Síndrome autoinflamatório hrdo:pat_id_12460 neant M86.3 93668 clinical subtype Adult CRMO CRMO adulte CRMO, adulte Form CRMO, forma adulta CRMO, forma adulta OMCR adulte Adult chronic recurrent multifocal osteomyelitis Osteomielite multifocal crónica recorrente, forma adulta Osteomielite multifocale ricorrente cronica, forma adulta Osteomielitis multifocal crónica recurrente, forma adulta Osteomyelitis, chronische multifokale rezidivierende, adulte Form Ostéomyélite multifocale chronique récidivante de l'adulte hrdo:pat_id_12464 10008521 neant M33.0 93672 1212005 C0263666 C2931785 clinical subtype DM giovanile DM juvenil DM juvénile Juvenile DM Dermatomiosite giovanile Dermatomiosite juvenil Dermatomiositis juvenil Dermatomyosite juvénile Dermatomyositis, juvenile Juvenile dermatomyositis hrdo:pat_id_12465 neant D36.0 93682 clinical subtype Castleman-Krankheit des Kindesalters Doença de Castleman de início na idade pediátrica Enfermedad de Castleman de aparición pediátrica Maladie de Castleman de l'enfant Malattia di Castleman a esordio pediatrico Pediatric Castleman disease hrdo:pat_id_12466 neant D36.0 93685 clinical subtype Castleman-Krankheit, lokalisierte Doença de Castleman localizada Enfermedad de Castleman localizada Localized Castleman disease Maladie de Castleman localisée Malattia localizzata di Castleman hrdo:pat_id_12467 C537372 neant D36.0 93686 C1334815 clinical subtype Hyperplasie ganglionnaire géante multicentrique Iperplasia multicentrica gigante dei linfonodi MCD MCM Multicentric giant lymph node hyperplasia Multizentrische Riesenganglien-Hyperplasie Doença de Castleman multicêntrica (MCD) Enfermedad de Castleman multicéntrica (MCD) Maladie de Castleman multicentrique Malattia multicentrica di Castleman (MCD) Multicentric Castleman disease Multizentrische Castleman-Krankheit (MCD) hrdo:pat_id_12468 93688 group of phenomes Arthrite juvénile non idiopathique Arthritis, juvenile nicht-idiopathische Artrite giovanile non idiopatica Artrite não-idiopática juvenil Artritis, juvenil no idiopática Nonidiopathic juvenile arthritis hrdo:pat_id_12469 93890 group of phenomes Malformation syndrome Syndrome malformatif Anomalie dello sviluppo durante l'embriogenesi Anomalie rare du développement embryonnaire Defectos del desarrollo durante la embriogénesis Defeito de desenvolvimento durante a embriogenese Entwicklungsdefekt während der Embryogenese Rare developmental defect during embryogenesis hrdo:pat_id_1247 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 200110 C535557 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&details_term=ablepharon+macrostomia+syndrome Q87.0 920 C1860224 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Ablefaria - macrostomia Ablepharon macrostomia syndrome Ablepharon-Makrostomie-Syndrom Abléfaro - macrostomia, sindrome Abléfaron macrostomía Ablépharie - macrostomie hrdo:pat_id_1248 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 302905 C535559 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Abruzzo+erickson%5Btw%5D+OR+charge+like%5Btw%5D+OR+%28cleft+palate+AND+coloboma+AND+hypospadias+AND+deafness+AND+short+stature%29 Q87.8 921 C1844862 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CHARGE-like, síndrome Cleft palate - coloboma - deafness Fenda palatina - coloboma - sinostose radial - surdez Fente palatine - colobome - surdité Kieferspalte - Kolobom - Innenohrtaubheit Paladar hendido - coloboma - sordera Palatoschisi - coloboma - sordità Síndrome CHARGE-like Abruzzo-Erickson syndrome Abruzzo-Erickson-Syndrom Sindrome di Abruzzo-Erickson Syndrome d'Abruzzo-Erickson Síndrome de Abruzzo-Erickson Síndrome de Abruzzo-Erickson hrdo:pat_id_12482 162091 162260 C536641 neant Q85.0 93921 254240003 C0917817 C1335929 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease NF3 NF3 NF3 NF3 Neurilemmomatose Neurilemmomatosi Neurilemmomatosis Schwannomatose Schwannomatose Schwannomatosi Schwannomatosis Schwannomatosis Neurofibromatose Typ 3 Neurofibromatose tipo 3 Neurofibromatose type 3 Neurofibromatosi, tipo 3 Neurofibromatosis tipo 3 Neurofibromatosis type 3 hrdo:pat_id_12484 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 236100 605934 609408 neant Q04.2 93924 253136007 C0431362 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Holoprosencefalia lobar Holoprosencefalia lobar Holoprosencéphalie lobaire Holoprosenzephalie, lobäre Lobar holoprosencephaly Oloprosencefalia lobare hrdo:pat_id_12485 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 236100 609408 neant Q04.2 93925 253137003 C0431363 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Alobar holoprosencephaly Holoprosencefalia alobar Holoprosencefalia alobar Holoprosencéphalie alobaire Holoprosenzephalie, alobäre Oloprosencefalia alobare hrdo:pat_id_12486 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 236100 609637 neant Q04.2 93926 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 HPE tipo MIH MIH MIH MIH MIH MIH MIH tipo HPE MIH type HPE MIH type HPE MIH vom Typ HPE MIHF MIHF MIHF MIHF MIHF MIHV MIHV MIHV MIHV MIHV Middle interhemispheric fusion variant Middle interhemispheric variant of holoprosencephaly Mittlere interhemisphärische Fusionsvariante Sintelencefalia Sintelencefalia Syntelencephaly Syntelenzephalie Syntélencéphalie Variante da fusione interemisferica mediana Variante de fusión interhemisférica media Variante interemisferica mediana dell'oloprosencefalia Variante interhemisférica media de la holoprosencefalia Holoprosencefalia, variante interhemisférica média Midline interhemispheric variant of holoprosencephaly Mittlere interhemisphärische Fusionsvariante der Holoprosenzephalie Oloprosencefalia, variante interemisferica della linea mediana Variant interhémisphérique médian de l'holoprosencéphalie Variante interhemisférica media de la holoprosencefalia hrdo:pat_id_12488 600057 D004842 10015088 neant Q64.0 93928 406476007 406477003 C0014588 C0563449 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Epispadia Epispadias Epispadias Epispadias Epispadie Epispádia hrdo:pat_id_12489 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 258040 10067424 neant Q64.1 93929 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Complejo OEIS Complesso OEIS OEIS complex OEIS-Komplex Omphalocele - cloacal exstrophy - imperforate anus - spinal defect Omphalocèle - exstrophie cloacale - anus imperforé - anomalie spinale Omphalozele - Kloakenexstrophie - Anus imperforatus - Neuralrohrdefekt Onfalocele - estrofia della cloaca - ano imperforato - anomalie spinali Onfalocele - extrofia cloacal - ano imperforado - defecto en la columna vertebral complexe OEIS Cloacal exstrophy Estrofia della cloaca Exstrophie cloacale Extrofia cloacal Extrofia da cloaca Kloakenexstrophie hrdo:pat_id_1249 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&details_term=nasal+acilia Q30.8 922 disease Absence familiale de cils nasaux Acilia nasal familiar Acilia nasal forma familiar Assenza delle ciglia nasali forma familiare Familial nasal acilia Syndrom der fehlenden Nasenzilien, familiäre Form hrdo:pat_id_12490 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 600057 D001746 neant Q64.1 93930 61758007 C0005689 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Blasenekstrophie, klassische Classic exstrophy of the bladder Estrofia vescicale classica Exstrophie classique de la vessie Extrofia vesical clásica Bladder exstrophy Blasenekstrophie Estrofia vescicale Exstrophie de la vessie Extrofia da bexiga Extrofia vesical hrdo:pat_id_12492 305450 neant Q87.8 93932 clinical subtype Opitz-Kaveggia syndrome Opitz-Kaveggia-Syndrom Sindrome di Opitz-Kaveggia Syndrome d'Opitz-Kaveggia Síndrome de Opitz-Kaveggia FG syndrome type 1 FG-Syndrom Type 1 Sindrome FG, tipo 1 Syndrome FG type 1 Síndrome FG tipo 1 Síndrome FG, tipo 1 hrdo:pat_id_12497 217100 neant Q79.8 93937 morphological anomaly Amputación congénita de las extremidades Amputazione congenita degli arti Congenital limb amputation Amputation congénitale des membres supérieurs Arndefekt, terminaler transversaler Defectos terminales transversos del brazo Defeitos transversais terminais do membro superior Difetti della parte trasversale e terminale del braccio Terminal transverse defects of arm hrdo:pat_id_12498 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q32.1 93938 clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown LTEC I LTEC I LTEC I LTEC I LTEC I LTEC1 LTEC1 LTEC1 LTEC1 LTEC1 Fenda laringotraqueoesofágica tipo 1 Fente laryngo-trachéo-oesophagienne type 1 Hendidura laringo-traqueo-esofágica, tipo 1 Laryngo-tracheo-esophageal cleft type 1 Laryngo-tracheo-ösophageale Spalte Typ 1 Schisi laringo-tracheo-esofagea, tipo 1 hrdo:pat_id_12499 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q32.1 93939 clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown LTEC II LTEC II LTEC II LTEC II LTEC II LTEC2 LTEC2 LTEC2 LTEC2 LTEC2 Fenda laringotraqueoesofágica tipo 2 Fente laryngo-trachéo-oesophagienne type 2 Hendidura laringotraqueoesofágica, tipo 2 Laryngo-tracheo-esophageal cleft type 2 Laryngo-tracheo-ösophageale Spalte Typ 2 Schisi laringo-tracheo-esofagea, tipo 2 hrdo:pat_id_125 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Variabel Variabile Variable Variable Variable Variable Variável 603903 D000755 10040641 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22anemia%2C+sickle+cell%22%5BMH%5D+OR+%28%28sickle+cell+anemia%5BTW%5D+OR+sickle+cell+anaemia%5BTW%5D%29+NOT+medline%5Bsb%5D%29 D57 232 127040003 417357006 C0002895 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Anemia a cellule falciformi Anemia de células falciformes Anämie, hämolytische kongenitale Anémie à hématies falciformes Drepanocitose Sichelzellanämie Sichelzellkrankheit Sickle cell disease Siclemia Anemia de células falciformes Drepanocitosi Drepanocitosis Drepanozytose Drépanocytose Sickle cell anemia hrdo:pat_id_12500 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q32.1 93940 clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown LTEC III LTEC III LTEC III LTEC III LTEC III LTEC3 LTEC3 LTEC3 LTEC3 LTEC3 Fenda laringotraqueoesofágica tipo 3 Fente laryngo-trachéo-oesophagienne type 3 Hendidura laringotraqueoesofágica, tipo 3 Laryngo-tracheo-esophageal cleft type 3 Laryngo-tracheo-ösophageale Spalte Typ 3 Schisi laringo-tracheo-esofagea, tipo 3 hrdo:pat_id_12501 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q32.1 93941 clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown LTEC IV LTEC IV LTEC IV LTEC IV LTEC IV LTEC4 LTEC4 LTEC4 LTEC4 LTEC4 Fenda laringotraqueoesofágica tipo 4 Fente laryngo-trachéo-oesophagienne type 4 Hendidura laringotraqueoesofágica, tipo 4 Laryngo-tracheo-esophageal cleft type 4 Laryngo-tracheo-ösophageale Spalte Typ 4 Schisi laringo-tracheo-esofagea, tipo 4 hrdo:pat_id_12502 neant Q76.7 93942 clinical subtype Celosomia Celosomia Celosomía Celossomia Célosomie Zelosomie hrdo:pat_id_12503 93943 malformation syndrome Corpus callosum dysgenesis - hypopituitarism Corpus-callosum-Dysgenesie - Hypopituitarismus Disgenesia del corpo calloso - ipopituitarismo Disgenesia del cuerpo calloso - hipopituitarismo Disgenesia do corpo caloso - hipopituitarismo Dysgénésie du corps calleux - hypopituitarisme hrdo:pat_id_12504 93944 clinical subtype Atraso mental ligado ao X, tipo Fichera Déficit intelectual ligado al X, de tipo Fichera Déficit intellectuel lié à l'X type Fichera Geistige Retardierung, X-chromosomale, Typ Fichera Ritardo mentale legato all'X, tipo Fichera X-linked intellectual deficit, Fichera type hrdo:pat_id_12505 93945 clinical subtype Atraso mental ligado ao X, tipo Porteous Déficit intelectual ligado al X, de tipo Porteous Déficit intellectuel lié à l'X type Porteous Geistige Retardierung, X-chromosomale, Typ Porteous Ritardo mentale legato all'X, tipo Porteous X-linked intellectual deficit, Porteous type hrdo:pat_id_12506 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant 93946 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hamel cerebro-palato-cardiac syndrome Sindrome cerebro-palato-cardiaca di Hamel Syndrome cérébro-palato-cardiaque d'Hamel Síndrome cerebro-palato-cardiaco de Hamel Síndrome de Hamel cerebro-palato-cardíaco Zerebro-palato-kardiales Syndrom Hamel hrdo:pat_id_12507 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant 93947 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso mental ligado ao X, tipo Golabi-Ito-Hall Déficit intelectual ligado al X, de tipo Golabi-Ito-Hall Déficit intellectuel lié à l'X type Golabi-Ito-Hall Geistige Retardierung, X-chromosomale, Typ Golabi-Ito-Hall Ritardo mentale legato all'X, tipo Golabi-Ito-Hall X-linked intellectual deficit, Golabi-Ito-Hall type hrdo:pat_id_12508 neant 93950 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive clinical subtype Atraso mental ligado ao X, tipo Sutherland-Haan Déficit intelectual ligado al X, de tipo Sutherland-Haan Déficit intellectuel lié à l'X type Sutherland-Haan Geistige Retardierung, X-chromosomale, Typ Sutherland-Haan Ritardo mentale legato all'X, tipo Sutherland-Haan X-linked intellectual deficit, Sutherland-Haan type hrdo:pat_id_12509 93951 clinical subtype Atraso mental - epilepsia, ligado ao X, tipo dominante Deficit cognitivo - epilessia , legato all'X, tipo dominante Déficit intelectual ligado al X, forma dominante - epilepsia Epilepsie - déficit intellectuel lié à l'X dominant Geistige Retardierung - Epilepsie, X-chromosomaler dominanter Typ X-linked dominant intellectual deficit - epilepsy hrdo:pat_id_1251 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 610549 neant E11 2297 237651005 C0342336 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Syndrome de résistance à l'insuline type A Insulin-resistance syndrome type A Insulinresistenz-Syndrom Typ A Sindrome da insulino-resistenza, tipo A Syndrome d'insulino-résistance type A Síndrome de resistencia a la insulina tipo A Síndrome resistência à insulina, tipo A hrdo:pat_id_12510 300423 neant 93952 clinical subtype Atraso mental - epilepsia, ligado ao X, tipo recessivo Deficit cognitivo - epilessia , legato all'X, tipo recessivo Déficit intelectual ligado al X, forma recesiva - epilepsia Epilepsie - déficit intellectuel lié à l'X récessif Geistige Retardierung - Epilepsie, X-chromosomaler rezessiver Typ X-linked recessive intellectual deficit - epilepsy hrdo:pat_id_12511 188455 neant 93953 etiological subtype Cisti del condotto tireoglosso, forma familiare Familial thyroglossal duct cyst Fistel, familiäre thyroglossale Kyste familial du conduit thyréoglosse Quiste de conducto tirogloso, forma familiar Quisto do canal tireoglosso, familiar hrdo:pat_id_12513 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 606798 neant G24.5 93955 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Blefaroespasmo primario Blefarospasmo primitivo Blepharospasmus, primärer Blépharospasme primaire Primary blepharospasm Benign essential blepharospasm Blefaroespasmo esencial benigno Blefarospasmo Blefarospasmo essenziale benigno Blepharospasmus, beninger essentieller Blépharospasme essentiel bénin hrdo:pat_id_12514 neant G24.8 93956 disease Distonia del tronco Distonia do tronco Distonía de tronco Dystonie du tronc Rumpfdystonie Truncal dystonia hrdo:pat_id_12515 611284 neant G24.8 93957 disease Distonia degli arti Distonia dos membros Distonía de los miembros Dystonie des membres Gliederdystonie Limb dystonia hrdo:pat_id_12516 neant G24.4 93958 230328001 C0393607 disease Distonia oromandibolare Distonia oromandibular Distonía oromandibular Dystonie oro-mandibulaire Dystonie, oromandibuläre Oromandibular dystonia hrdo:pat_id_12519 neant E24.8 93961 disease Dysphonie spasmodique Dystonie laryngée Laryngeal dystonia Spasmodic dysphonia Distonia della laringe (disfonia spasmodica) Distonia laríngea Distonía laringea (disfonía espástica) Dyskinésie laryngée Dystonie, laryngeale (spasmodische Dysphonie) Laryngeal dyskinesia hrdo:pat_id_12520 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 602124 614860 615034 neant G24.3 93962 230322000 C0393602 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Spasmodic torticollis Torticolis spasmodique Cervical dystonia Distonia cervical Distonia cervicale (torcicollo spasmodico) Distonía cervical (torticolis espásmódica) Dystonie cervicale Dystonie, zervikale (spasmodischer Torticollis) hrdo:pat_id_12521 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 602124 neant G24.1 93963 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Adult-onset focal torsion dystonia Adult-onset idiopathic torsion dystonia DYT7 DYT7 DYT7 DYT7 DYT7 Distonia di torsione focale a esordio nell'adulto Distonia di torsione idiopatica a esordio nell'adulto Distonía de torsión focal del adulto Distonía de torsión idiopática del adulto Dystonie idiopathique de torsion de l'adulte Torsionsdystonie, idiopathische, im Erwachsenenalter Autosomal dominant focal dystonia, DYT7 type Distonia focal, autossómica dominante, DYT7 Distonia focale autosomica dominante, tipo DYT7 Distonía focal autosómica dominante, tipo DYT7 Dystonie focale autosomique dominante, type DYT7 Dystonie, fokale, autosomal-dominante, DYT7 hrdo:pat_id_12522 neant G24.8 93964 disease Dystonie de Meige Meige dystonia Meige syndrome Meige-Syndrom Síndrome de Meige Blefarospasmo - distonia oromandibolare (sindrome di Meige) Blefarospasmo - distonía oromandibular Blepharospasm - oromandibular dystonia Blepharospasmus - oromandibulärer Dystonie Syndrome de Meige Síndrome de Meige hrdo:pat_id_12526 neant 93968 disease Meningocele Meningocele Meningocele Meningocelo Meningozele Méningocèle hrdo:pat_id_12527 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q05 93969 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly Mielomeningocele Mielomeningocele Mielomeningocelo Myelomeningocele Myelomeningozele Myéloméningocèle hrdo:pat_id_12528 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 309580 neant Q01 Q05 93970 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Holmes-Gang syndrome Holmes-Gang-Syndrom Sindrome di Holmes-Gang Syndrome de Holmes-Gang Síndrome de Holmes-Gang Síndrome de Holmes-Gang hrdo:pat_id_12529 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 309580 neant 93971 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Chudley-Lowry syndrome Chudley-Lowry-Syndrom Sindrome di Chudley-Lowry Syndrome de Chudley-Lowry Chudley-Lowry-Hoar syndrome Chudley-Lowry-Hoar-Syndrom Sindrome di Chudley-Lowry-Hoar Syndrome de Chudley-Lowry-Hoar Síndrome de Chudley-Lowry-Hoar Síndrome de Chudley-Lowry-Hoar hrdo:pat_id_1253 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 231550 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Triple+A+syndrome%5Btw%5D+OR+Allgrove%5Btw%5D+OR+%28achalasia+AND+alacrima+AND+%28addisonianism+OR+adrenal+insufficiency%29%29 E27.4 869 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 4 A syndrome AAA syndrome Acalasia - addisonianismo - alacrimia, síndrome Achalasia - addisonianism - alacrima syndrome Achalasie - addisonisme - alacrymie Achalasie - adrenale Insuffizienz - Alakrimie Adrenal insufficiency - achalasia - alacrima Allgrove syndrome Allgrove, síndrome de Allgrove-Syndrom Double A syndrome Quaternary A syndrome Sindrome acalasia-addisonismo-alacrimia Sindrome di Allgrove Syndrome AAA Syndrome d'Allgrove Síndrome acalasia - addisonianismo - alacrimia Síndrome acalasia - addisonismo - alacrimia Síndrome de Allgrove Síndrome de Allgrove Sindrome della tripla A Syndrome triple A Síndrome triple A Síndrome triplo A Triple A syndrome Triple-A-Syndrom hrdo:pat_id_12530 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 309580 C537457 neant 93972 C0796003 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Juberg-Marsidi syndrome Juberg-Marsidi-Syndrom Sindrome di Juberg-Marsidi Syndrome de Juberg-Marsidi Síndrome de Juberg-Marsidi Síndrome de Juberg-Marsidi hrdo:pat_id_12531 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 309580 neant 93973 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Carpenter-Waziri syndrome Carpenter-Waziri-Syndrom Sindrome di Carpenter-Waziri Syndrome de Carpenter-Waziri Síndrome de Carpenter-Waziri Síndrome de Carpenter-Waziri hrdo:pat_id_12532 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 309580 neant 93974 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome di Smith-Fineman-Myers Smith-Fineman-Myers syndrome Smith-Fineman-Myers-Syndrom Syndrome de Smith-Fineman-Myers Síndrome de Smith-Fineman-Myers Síndrome de Smith-Fineman-Myers hrdo:pat_id_12533 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 309580 neant 93975 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Renier-Gabreels-Jasper syndrome Renier-Gabreels-Jasper-Syndrom Sindrome di Renier-Gabreels-Jasper Syndrome de Renier-Gabreels-Jasper Síndrome de Renier-Gabreels-Jasper Síndrome de Renier-Gabreels-Jasper hrdo:pat_id_12534 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 600674 C537772 10002654 neant Q16.0 93976 morphological anomaly Anotia Anotia Anotia Anotia Anotie Anotie hrdo:pat_id_12538 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Humeroulnar+synostos*%5Btw%5D+OR+Humero+ulnar%5Btw%5D+synostos*)+(humans+OR+patients) Q74.0 94056 205330003 C0431799 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Synostose huméro-ulnaire Humeroulnar synostosis Sinostose umero-cubital Sinostosi omero-ulnare Sinostosis húmero-cubital Synostose huméro-cubitale Synostose, humero-ulnare hrdo:pat_id_12539 D015355 10062891 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Glaucoma,+neovascular%5Bmh%5D+OR+neovascular+glaucoma%5Btw%5D+glaucoma%5Bmh%5D 94058 232086000 C0017609 particular clinical situation in a disease or syndrome Glaucoma neovascolare Glaucoma neovascular Glaucoma neovascular Glaucome néovasculaire Glaukom, neovaskuläres Neovascular glaucoma hrdo:pat_id_1254 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 200450 C536010 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=achalasia+AND+microcephaly Q39.5 929 C1860212 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acalasia - microcefalia Acalasia microcefalia Acalasia microcefalia Achalasia - microcephaly Achalasie - Mikrozephalie Achalasie - microcéphalie hrdo:pat_id_12540 10060875 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Uremic+pruritus%5Btw%5D 94059 C1262019 particular clinical situation in a disease or syndrome 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Prurido urémico Prurit urémique Prurito uremico Prurito urémico Pruritus, urämischer Uremic pruritus hrdo:pat_id_12542 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=macrocephaly+(Immunologic+Deficiency+Syndromes+OR+immune+deficiency)+anemia D82.8 94061 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Macrocefalia - deficiencia inmunitaria - anemia Macrocefalia - immunodeficienza - anemia Macrocefalia - imunodeficiência - anemia Macrocephaly - immune deficiency - anemia Macrocéphalie - déficit immunitaire - anémie Makrozephalie - Immundefekt - Anämie hrdo:pat_id_12543 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=early+coronary+disease+LRP6 94062 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Arteriopatia coronarica - iperlipidemia - ipertensione - diabete - osteoporosi Coronary artery disease - hyperlipidemia - hypertension - diabetes - osteoporosis Doença coronária - hiperlipidemia - hipertensão - diabetes - osteoporose Enfermedad de la arteria coronaria - hiperlipidemia - hipertensión - diabetes - osteoporosis Koronare Herzkrankheit - Hyperlipidämie - Hypertension - Diabetes - Osteoporose Maladies des artères coronaires - hyperlipidémie - hypertension - diabète - ostéoporose hrdo:pat_id_12544 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=osteopoikilosis+mental+retardation+stature Q93.5 94063 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Del(12)(q14) Del(12)(q14) Del(12)(q14) Del(12)(q14) Del(12)(q14) Deleción 12q14 Deletion 12q14 Deletion 12q14 Delezione 12q14 Délétion 12q14 Monosomia 12q14 Monosomie 12q14 Monosomie 12q14 Monosomy 12q14 Monosomía 12q14 Osteopoichilosi - bassa statura - deficit cognitivo Osteopoichilosi - bassa statura - ritardo mentale Osteopoikilose - Kleinwuchs - Intelligenzminderung Osteopoikilosis - short stature - intellectual deficit Osteopoiquilosis - estatura baja - déficit intelectual Ostéopoïkilose - petite taille - déficit intellectuel 12q14 microdeletion syndrome Mikrodeletionssyndrom 12q14 Osteopoiquilose - baixa estatura - atraso mental Sindrome da microdelezione 12q14 Syndrome de microdélétion 12q14 Síndrome de microdeleción 12q14 hrdo:pat_id_12545 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 611102 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=sensorineural+deafness+infertility+male Q93.5 94064 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 DIS DIS DIS Deafness-infertility syndrome Schwerhörigkeit-Infertilitäts-Syndrom Sindrome sordità-infertilità Syndrome de surdité-infertilité Síndrome de sordera e infertilidad Síndrome surdez-infertilidade hrdo:pat_id_12546 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 613406 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=microcephaly%+hypospadias+loose+connective+tissue Q93.5 94065 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Del(15)(q24) Del(15)(q24) Del(15)(q24) Del(15)(q24) Del(15)(q24) Monosmie 15q24 Monosomia 15q24 Monosomie 15q24 Monosomy 15q24 Monosomía 15q24 15q24 microdeletion syndrome Atraso de crescimento - microcefalia - anomalias digitais - hipospádias Mikrodeletionssyndrom 15q24 Sindrome da microdelezione 15q24 Syndrome de microdélétion 15q24 Síndrome de microdeleción 15q24 hrdo:pat_id_12547 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=mental+retardation+epilepsy+anal%anomalies Q87.8 94066 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso mental grave - epilepsia - anomalias anais - hipoplasia das falanges distais Déficit intelectual grave - epilepsia - anomalías anales - hipoplasia de las falanges distales Déficit intellectuel sévère - épilepsie - anomalies anales - hypoplasie des phalanges Intelligenzminderung, schwere - Epilepsie - Analanomalien - Hypoplastische distale Phalangen Ritardo mentale grave - epilessia - anomalie anali - ipoplasia delle falangi distali Severe intellectual deficit - epilepsy - anal anomalies - distal phalangeal hypoplasia hrdo:pat_id_12548 183900 neant Q77.7 94068 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Congenital spondyloepiphyseal dysplasia DSEC Maladie de Spranger-Wiedemann SEDC SEDC Spranger-Wiedemann disease Displasia espondiloepifisaria congénita Displasia espondiloepifisária, tipo congénito Displasia spondiloepifisaria congenita Dysplasie spondyloépiphysaire congénitale Dysplasie, spondyloepiphysäre, kongenitaler Typ Spondyloepiphyseal dysplasia congenita hrdo:pat_id_1255 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 200500 C536014 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Acheiropod* Q74.8 931 177504007 C0265559 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo morphological anomaly <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acheiropody Acheiropodia Acheiropodia Acheiropodie Acheiropodie-Syndrom Aqueiropodia Aqueiropodia hrdo:pat_id_12550 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Immune+OR+autoimmun*)+(Chronic+enteropath*+OR+intractable+diarrhea)+(infancy+OR+infant)+NOT+viruses 94075 group of phenomes Autoimmun-Enteropathie Autoimmune enteropathy Diarrhoe, autoimmune schwere, des Kindesalters Diarrhée sévère auto-immune de l'enfant Enteropatia autoimmune Enteropatía autoinmune Entéropathie auto-immune Immune-mediated protracted diarrhea of infancy Diarrea dell'infanzia intrattabile immuno-mediata Diarrea intratable de la infancia de carácter inmune Enteropathie, immunvermittelte schwere Enteropatia, grave, imuno-mediada Entéropathie sévère d'origine immunitaire Severe immune-mediated enteropathy hrdo:pat_id_12552 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(pheochromocytoma%5Bti%5D+OR+paraganglioma*%5Bti%5D+OR+paraganglioma%5Bmh%5D)+(%22non+secreting%22) 94080 disease Non secreting paraganglioma Paragangliom, nicht-sezernierendes Paraganglioma non secernente Paraganglioma não-secretor Paraganglioma, no secretante Paragangliome non sécrétant hrdo:pat_id_12553 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 309510 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=%22Partington+syndrome%22+OR+(%22X+linked%22+retardation%5Bti%5D+(dystonia+OR+dystonic%5Bti%5D)+ARX) 94083 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Déficit intellectuel lié à l'X - main en griffe - dysarthrie Geistige Retardierung, X-chromosomale - Dystonie - Dysarthrie Partington-Mulley syndrome Partington-Mulley-Syndrom Ritardo mentale legato all'X - distonia - disartria Sindrome di Partington-Mulley Syndrome de Partington-Mulley X-linked intellectual deficit - dystonia - dysarthria Partington syndrome Partington-Syndrom Sindrome di Partington Syndrome de Partington Síndrome de Partington Síndrome de Partington hrdo:pat_id_12554 606155 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Pachygyria%5Btw%5D+OR+gyral%5Btw%5D+OR+gyri%5Btw%5D)+epilepsy%5Bmh%5D+Abnormalities,+Multiple+OR+Fryns+Aftimos%5Btw%5D Q04.3 94084 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cerebro-oculo-facial-lymphatic syndrome Fryns-Aftimos syndrome Fryns-Aftimos-Syndrom Sindrome di Fryns-Aftimos Syndrome cérébro-oculo-facio-lymphatique Syndrome de Fryns-Aftimos Pachigiria - epilessia - ritardo mentale - dismorfismi Pachygyria - epilepsy - intellectual deficit - dysmorphism Pachygyrie - Epilepsie - Intelligenzminderung - Dysmorphien Pachygyrie - épilepsie - déficit intellectuel - dysmorphie Paquigiria - epilepsia - atraso mental - dismorfias Paquigiria - epilepsia - déficit intelectual - dismorfias hrdo:pat_id_12555 211000 C536239 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Blue+diaper+syndrome E72.0 94086 59531002 C0268478 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Drummond syndrome Drummond-Syndrom Familial hypercalcemia - nephrocalcinosis - indicanuria Hypercalcémie familiale - néphrocalcinose - indicanurie Hyperkalzämie, familiäre - Nephrokalzinose - Indikanurie Syndrome de Drummond Síndrome de Drummond Blue diaper syndrome Blue-Diaper-Syndrom Maladie des langes bleus Sindrome del pannolino blu Síndrome de Blue Diaper Síndrome de pañal azul hrdo:pat_id_12556 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Panniculitis+cytophagic+(histiocytic+OR+Winkelmann*%5Btw%5D) M79.3 94087 238883003 C0406594 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CHP CHP CHP CHP CHP Paniculitis citofágica de Winkelmann Panniculite citofagica di Winkelmann Panniculite cytophagique de Winkelmann Pannikulitis, zytophagische, Typ Winkelmann Winkelmann's cytophagic panniculitis Cytophagic histiocytic panniculitis Paniculite citofágica histiocítica Paniculitis, histiocítica citofágica Panniculite citofagica istiocitaria Panniculite histiocytaire cytophagique Pannikulitis, histiozytäre zytophagische hrdo:pat_id_12557 220150 242050 307830 612076 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(hereditary+OR+inherited+OR+familial)+%22renal+hypouricemia%22 94088 malformation syndrome Hereditary renal hypouricemia Hipouricemia renal hereditaria Hipouricemia renal hereditária Hypouricémie rénale héréditaire Hypourikämie, hereditäre renale Ipouricemia renale ereditaria hrdo:pat_id_12558 603233 C548075 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Pseudohypoparathyroidism%5Bti%5D+OR+Pseudohypoparathyroidism%5Bmh%5D)+(%22type+1B%22+OR+%22type+ib%22) E20.1 94089 C2932715 disease Pseudohipoparatiroidismo tipo 1B Pseudohipoparatiroidismo, tipo 1B Pseudohypoparathyreoidismus Typ 1B Pseudohypoparathyroidism type 1B Pseudohypoparathyroïdie type 1B Pseudoipoparatiroidismo, tipo 1B hrdo:pat_id_12559 203330 C548077 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Pseudohypoparathyroidism%5Bti%5D+OR+Pseudohypoparathyroidism%5Bmh%5D)+(%22type+2%22+OR+%22type+ii%22) E20.1 94090 42183005 C0271870 C2932717 disease Pseudohipoparatiroidismo tipo 2B Pseudohipoparatiroidismo, tipo 2 Pseudohypoparathyreoidismus Typ 2 Pseudohypoparathyroidism type 2 Pseudohypoparathyroïdie type 2 Pseudoipoparatiroidismo, tipo 2 hrdo:pat_id_1256 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 10066122 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Osteochondrodysplasias%5Bmh%5D+AND+achondrogenesis%5Btw%5D%29+OR+achondrogenesis%5Bti%5D Q77.0 932 2391001 C0001079 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Achondrogenesie Achondrogenesis Achondrogenèse Acondrogenesi Acondrogénese Acondrogénesis hrdo:pat_id_12560 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=%22Mills+syndrome%22+OR+(Mills'%5Bti%5D+syndrome%5Bti%5D) 94091 disease Amyotrophe Lateralsklerose, hemiplegischer Typ Amyotrophic lateral sclerosis, hemiplegic type Sclerosi laterale amiotrofica, tipo emiplegico Sclérose latérale amyotrophique type hémiplégique Mills syndrome Mills-Syndrom Sindrome di Mills Syndrome de Mills Síndrome de Mills Síndrome de Mills hrdo:pat_id_12561 D009459 10029282 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=%22neuroleptic+malignant%22+syndrome G21.0 94093 15244003 C0027849 disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Malignes neuroleptisches Syndrom Neuroleptic malignant syndrome Sindrome neurolettica maligna Syndrome malin des neuroleptiques Síndrome de neuroleptico maligno Síndrome neuroléptico maligno hrdo:pat_id_12562 271520 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(costovertebral+OR+Spondylocostal+OR+%22Jarcho+Levin%22)+anal+(urogenital+OR+genitourinary)+(malformations+OR+anomalies)+OR+Casamassima+Morton+Nance Q87.8 94095 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Casamassima-Morton-Nance syndrome Sindrome di Casamassima-Morton-Nance Syndrome de Casamassima-Morton-Nance Síndrome de Casamassima-Morton-Nance Disostose espondilocostal - malformações anais e genito-urinárias Disostosi spondilocostale - malformazioni anali e genitourinarie Disostosis espondilocostal - malformaciones anales y genitourinarias Dysostose spondylo-costale - malformations anales et génito-urinaires Dysostose, spondylokostale - Anal- und Urogenitalfehlbildungen Spondylocostal dysostosis - anal and genitourinary malformations hrdo:pat_id_12563 601238 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Cayman+ataxia G11.0 94122 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Atassia, tipo Cayman Ataxie type Caïman Cayman ataxia Cayman-Ataxiie Atassia cerebellare, tipo Cayman Ataxia cerebelosa tipo Cayman Ataxia cerebelosa, tipo Cayman Ataxie cérébelleuse type Caïman Ataxie, zerebelläre, Typ Cayman Cerebellar ataxia, Cayman type hrdo:pat_id_12564 607250 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Spinocerebellar+ataxia+axonal+neuropathy+(%22type+1%22+OR+%22type+i%22+OR+scan1) G60.2 94124 disease SCAN1 SCAN1 SCAN1 SCAN1 SCAN1 Atassia spinocerebellare associata a neuropatia assonale, tipo 1 Ataxia espinocerebelosa com neuropatia axonal tipo 1 Ataxia espinocerebelosa con neuropatía axonal, tipo 1 Ataxie spinocérébelleuse - neuropathie axonale type 1 Ataxie, spinozerebelläre mit axonaler Neuropathie, Typ 1 Spinocerebellar ataxia type 1 with axonal neuropathy hrdo:pat_id_12565 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=ataxia+((POLG+OR+pol+gamma)+(A467T+OR+W748S+OR+G848S)+OR+MIRAS) G11.8 94125 disease MIRAS MIRAS MIRAS MIRAS Ataxie-Syndrom, mitochondriales rezessives Recessive mitochondrial ataxic syndrome Sindrome da atassia mitocondriale, autosomica recessiva Syndrome d'ataxie mitochondriale récessive Síndrome de ataxia mitocondrial recesiva Síndrome de ataxia mitocondrial, recessiva hrdo:pat_id_12566 Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=ataxia%5Bmh%5D+dominant+((%22type+1%22+OR+%22type+i%22)+OR+adca1+OR+machado+joseph%5Btw%5D+OR+sca1+OR+sca2+OR+sca4+OR+sca8+OR+sca17) G11.8 94145 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 ADCA1 ADCA1 ADCA1 ADCA1 ADCA1 ADCA1 ADCAI ADCAI ADCAI ADCAI Atassia cerebellare, autosomica dominante, tipo I Ataxia cerebelosa autosómica dominante tipo I Ataxie cérébelleuse autosomique dominante type I Autosomal dominant cerebellar ataxia type I Cerebellar plus syndrome Cerebellar plus-Syndrom Sindrome cerebellare plus Síndrome cerebeloso plus Atassia cerebellare, autosomica dominante, tipo 1 Ataxia cerebelosa autossómica dominante, tipo 1 Ataxia cerebelosa autosómica dominante tipo 1 Ataxie cérébelleuse autosomique dominante type 1 Ataxie, zerebelläre, autosomal-dominante, Typ 1 Autosomal dominant cerebellar ataxia type 1 hrdo:pat_id_12567 164500 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=ataxia+dominant+(type+7%5Bti%5D+OR+sca7%5Bti%5D+OR+sca+7%5Bti%5D+OR+macular+dystroph*%5Btw%5D+OR+retinal+degeneration+OR+%22ataxin+7%22+OR+ATXN7) G11.8 94147 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Atassia spinocerebellare autosomica dominante, tipo 7 Ataxia espinocerebelosa autosómica dominante, tipo 7 Ataxie spinocérébelleuse autosomique dominante type 7 Ataxie, autosomal-dominante spinozerebelläre, Typ 7 Autosomal dominant spinocerebellar ataxia type 7 Cerebellar syndrome - pigmentary maculopathy SCA7 SCA7 SCA7 SCA7 SCA7 SCA7 Sindrome cerebellare - maculopatia pigmentosa Syndrome cérébelleux - maculopathie pigmentaire Síndrome cerebeloso - maculopatía pigmentaria Zerebelläres Syndrom - pigmentäre Retinadegeneration Atassia spinocerebellare, tipo 7 Ataxia espinocerebelosa, tipo 7 Ataxia espinocerebelosa, tipo 7 Ataxie spinocérébelleuse type 7 Ataxie, spinozerebelläre, Typ 7 Spinocerebellar ataxia type 7 hrdo:pat_id_12568 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=ataxia+dominant+(sca6%5Bti%5D+OR+sca+6%5Bti%5D+OR+sca5%5Bti%5D+OR+sca10%5Bti%5D+OR+sca14%5Bti%5D+OR+sca15%5Bti%5D+OR+sca25%5Bti%5D)+NOT+%22Machado+Joseph%22 G11.8 94148 group of phenomes ADCA3 ADCA3 ADCA3 ADCA3 ADCA3 ADCA3 ADCAIII ADCAIII ADCAIII ADCAIII Atassia cerebellare, autosomica dominante, tipo III Ataxia cerebelosa autosómica dominante tipo III Ataxie cérébelleuse autosomique dominante type III Autosomal dominant cerebellar ataxia type III Cérébelleux pur, syndrome - signes pyramidaux modérés Pure cerebellar syndrome - mild pyramidal signs Rein Zerebelläres Syndrom - milde pyramidale Störungen Reines zerebelläres Syndrom - milde pyramidale Störungen Sindrome cerebellare pura - lievi segni piramidali Síndrome cerebeloso puro - leves signos piramidales Atassia cerebellare, autosomica dominante, tipo 3 Ataxia cerebelosa autossómica dominante, tipo 3 Ataxia cerebelosa autosómica dominante tipo 3 Ataxie cérébelleuse autosomique dominante type 3 Ataxie, zerebelläre, autosomal-dominante, Typ 3 Autosomal dominant cerebellar ataxia type 3 hrdo:pat_id_12569 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=ataxia%5Bmh%5D+dominant+(%22type+4%22+OR+%22type+iv%22)+(paroxysmal+OR+episodic+OR+CACNA1A+OR+KCNA1)+OR+episodic+ataxia%5Bti%5D+OR+paroxysmal+ataxia%5Bti%5D G11.8 94149 group of phenomes ADCA4 ADCA4 ADCA4 ADCA4 ADCA4 ADCA4 ADCAIV ADCAIV ADCAIV ADCAIV Atassia cerebellare, autosomica dominante, tipo IV Ataxia cerebelosa autosómica dominante tipo IV Ataxie cérébelleuse autosomique dominante type IV Autosomal dominant cerebellar ataxia type IV Atassia cerebellare, autosomica dominante, tipo 4 Ataxia cerebelosa autossómica dominante, tipo 4 Ataxia cerebelosa autosómica dominante tipo 4 Ataxie cérébelleuse autosomique dominante type 4 Ataxie, zerebelläre, autosomal-dominante, Typ 4 Autosomal dominant cerebellar ataxia type 4 hrdo:pat_id_12570 neant Q84.3 94150 clinical subtype Anonichia congenita totale Anoniquina congénita totalis Anonychia congenita totalis Anonychia congenita totalis Anonychie congénitale totale Anoníquia total congénita hrdo:pat_id_12578 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=variegate+porphyria[ti]+OR+porphyria,+variegate[mh]+OR+porphyria,+acute+intermittent[mh]+OR+coproporphyria,+hereditary[mh]+OR+hereditary+coproporphyria[ti] E80.2 95157 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Acute hepatic porphyria Porfiria epatica acuta Porfiria hepática aguda Porfiria hepática aguda Porphyrie hépatique aiguë Porphyrie, akute hepatische hrdo:pat_id_1258 200900 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&term=%28immunologic+deficiency+syndromes%5Bmajr%5D%29+%28%28short+limb*%5Btw%5D+dwarfism%29+OR+Achondroplasia%5Bti%5D%29+NOT+cartilage+hair%5Btw%5D D82.2 935 malformation syndrome Achondroplasia - severe combined immunodeficiency Achondroplasia and Swiss-type agammaglobulinemia Achondroplasie - agammaglobulinémie type suisse Achondroplasie - déficit immunitaire combiné sévère Achondroplasie mit Agammaglobulinämie vom Schweizer Typ Acondroplasia y agammaglobulinemia tipo suiza Deficit immunitario con nanismo ad arti corti Dysplasie osseuse à membres courts - DICS Dysplasie osseuse à membres courts - SCID Déficit immunitaire avec nanisme à membres courts Immundefekt - Kleinwuchs - kurze Gliedmaßen Immundefekt mit verkürzten Extremitäten Immunodeficiency with short limb dwarfism Imunodeficiência com nanismo de membros curtos Inmunodeficiencia con enanismo de miembros cortos Short-limb skeletal dysplasia with SCID Achondroplasie - schwerer kombinierter Immundefekt Acondroplasia - inmunodeficiencia combinada grave Acondroplasia agammaglobulinemia, tipo Svizzero Acondroplasia e agamaglobulinemia, tipo suíço Dysplasie osseuse à membres courts - déficit immunitaire combiné sévère Short-limb skeletal dysplasia with severe combined immunodeficiency hrdo:pat_id_12580 176100 D017121 neant E80.2 95159 111386004 C0162569 C0268324 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 HEP HEP Hepatoerythropoietic porphyria Porfiria epato-eritropoietica (HEP) Porfiria hepatoeritropoyética (HEP) Porfiria hepatoeritropoética Porphyrie hépatoérythropoïétique Porphyrie, hepatoerythropoetische (HEP) hrdo:pat_id_12581 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=porphyria+cutanea+tarda%5Bti%5D+OR+Porphyria+Cutanea+Tarda%5Bmh%5D+OR+Porphyria,+Hepatoerythropoietic%5Bmh%5D+OR+hepatoerythropoietic+porphyria%5Bti%5D E80.2 95161 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Chronic hepatic porphyria Porfiria epatica cronica Porfiria hepática crónica Porfiria hepática crónica Porphyrie hépatique chronique Porphyrie, chronische hepatische hrdo:pat_id_12582 607432 neant Q04.3 95232 disease Lisencefalia debido a mutaciones en LIS1 Lisencefalia por mutação no gene LIS1 Lissencefalia da mutazione di LIS1 Lissencephaly due to LIS1 mutation Lissencéphalie par mutation de LIS1 isolé Lissenzephalie durch LIS1-Genmutation hrdo:pat_id_12584 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=acute%5Bti%5D+adrenal+insufficiency%5Bmajr%5D+OR+acute+adrenal+insufficiency%5Bti%5D+OR+Waterhouse+Friderichsen%5Btw%5D 95409 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Dominant lié à l'X Dominante legata all'X Dominante ligado al X Esporádica Esporádico Ligado ao X dominante Sporadic Sporadic Sporadica Sporadique Sporadisch X-chromosomal-dominant X-linked dominant X-linked dominant clinical syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Acute adrenal failure Acute adrenocortical insufficiency Adrenal crisis Crisis suprarrenal Fallo suprarrenal agudo Insuffisance cortico-surrénale aiguë Insuffisance cortico-surrénalienne aiguë Insuffisance surrénale aiguë Insuficiencia adrenocortical aguda Acute adrenal insufficiency Insufficienza surrenalica acuta Insuffisance surrénalienne aiguë Insuficiencia suprarrenal aguda Insuficiência suprarrenal aguda Nebenniereninsuffizienz, akute hrdo:pat_id_12585 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(chronic+diseases%5Bmh%5D+pain+OR+chronic+pain%5Btw%5D)+(Injections,+Spinal+OR+intraspinal)+(analgesia+OR+analgesics) 95426 particular clinical situation in a disease or syndrome 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Chronic pain requiring intraspinal analgesia Chronischer Schmerz der eine intraspinale Analgesie erfordert Dolor crónico que requiere de analgesia espinal Dolore cronico trattato con analgesici intraspinali Dor crónica que requere analgesia intra-espinhal Douleur chronique nécessitant une analgésie intraspinale hrdo:pat_id_12586 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=((Short+Bowel+Syndrome%5Bmh%5D+OR+short+bowel%5Bti%5D)+(resection*+OR+postoperative))+NOT+(neonatal+OR+infants+OR+rat) 95427 disease Kurzdarm-Syndrom durch Thrombose Kurzdarm-Syndrom durch Trauma Kurzdarm-Syndrom durch Volvulus (Darmverschlingung) Kurzdarm-Syndrom durch nekrotisierende Enterocolitis Kurzdarm-Syndrom durch operative Resektion Kurzdarm-Syndrom durch totale oder subtotale Aganglionose Short bowel syndrome due to necrotizing enterocolitis Short bowel syndrome due to surgical resection Short bowel syndrome due to thrombosis Short bowel syndrome due to total or sub-total aganglionosis Short bowel syndrome due to trauma Short bowel syndrome due to volvulus Sindrome dell'intestino corto da aganglionosi subtotale o totale Sindrome dell'intestino corto da enterocolite necrotizzante Sindrome dell'intestino corto da resezione chirurgica Sindrome dell'intestino corto da trauma Sindrome dell'intestino corto da trombosi Sindrome dell'intestino corto da volvolo Syndrome de l'intestin court dû à un traumatisme Syndrome de l'intestin court dû à un volvulus Syndrome de l'intestin court dû à une aganglionose totale ou subtotale Syndrome de l'intestin court dû à une entérocolite nécrosante Syndrome de l'intestin court dû à une résection chirurgicale Syndrome de l'intestin court dû à une thrombose Síndrome de intestino corto debido a aganglionosis total o subtotal Síndrome de intestino corto debido a enterocolitis necrosante Síndrome de intestino corto debido a enterocolitis necrotizante Síndrome de intestino corto debido a resección quirúrgica Síndrome de intestino corto debido a trauma Síndrome de intestino corto debido a trombosis Síndrome de intestino corto debido a vólvulos Kurzdarm-Syndrom, sekundäres Secondary short bowel syndrome Sindrome secondaria dell'intestino corto Syndrome de l'intestin court secondaire Síndrome do intestino curto, secundário Síndrome secundario del intestino corto hrdo:pat_id_12587 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 611182 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Carbohydrate+Metabolism,+Inborn+Errors+OR+glycosylation)+(type+IIh%5Btw%5D+OR+type+2h%5Btw%5D)+OR+cgd2h+OR+cdgiih+OR+cdg+iih%5Btw%5D E77.8 95428 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anomalie congénitale de la glycosylation type 2h Anomalie congénitale de la glycosylation type IIh CDG syndrome type 2h CDG syndrome type IIh CDG-IIh CDG-IIh CDG-IIh CDG-IIh CDG2H CDG2H CDG2H CDG2H CDG2H Carbohydrate deficient glycoprotein syndrome type IIh Congenital disorder of glycosylation type 2h Congenital disorder of glycosylation type IIh Disturbo congenito della glicosilazione, tipo 2h Disturbo congenito della glicosilazione, tipo IIh Kohlenhydrat-defizientes Glykoprotein-Syndrom IIh Kongenitaler Defekt der Glycoproteinbiosynthese Typ IIh Sindrome CDG, tipo 2h Sindrome CDG, tipo IIh Sindrome delle glicoproteine carenti in carboidrati, tipo IIh Syndrome CDG type 2h Syndrome CDG type IIh Syndrome des glycoprotéines déficientes en hydrates de carbone type IIh Síndrome CDG tipo 2h Síndrome CDG tipo IIh Síndrome de glicoproteínas deficientes en carbohidratos tipo IIh Trastorno congénito de la glicosilación tipo 2h Trastorno congénito de la glicosilación tipo IIh CDG-Syndrom Typ IIh COG8-CDG syndrome Sindrome COG8-CDG Syndrome COG8-CDG Síndrome COG8-CDG Síndrome dos CDG tipo IIh hrdo:pat_id_12588 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 106050 300652 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=serpiginosum+(genetics+OR+family+OR+x+linked%5Btw%5D+OR+dominant+OR+familial) L81.7 95429 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X Sporadic Sporadic Sporadica Sporadique Sporadisch X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Angioma serpiginoso Angioma serpiginoso Angioma serpiginoso, familiar Angioma serpiginosum Angioma serpiginosum Angioma serpiginosum, familiäres hrdo:pat_id_12589 10010654 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(tracheomalacia+congenital+OR+Tracheal+Stenosis%2Fcn)+trachea%2Fab Q32.0 95430 95467005 C0392109 morphological anomaly Colapso congénito grave de las vías respiratorias Colapso de vías respiratorias superiores congénito Collasso grave congenito delle vie respiratorie Congenital major airway collapse Trachealkollaps, kongenitaler Congenital tracheomalacia Tracheomalacia congenita Tracheomalazie, kongenitale Trachéomalacia congénitale Traqueomalacia congénita Traqueomalacia congénita hrdo:pat_id_1259 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 203740 C536582 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28oxoglutaric[ti]+aciduria[ti]%29+OR+%28ketoglutarate+dehydrogenase[ti]+defic*[ti]%29+OR+ketoglutarate+dehydrogenase+complex/df[majr] E88.8 31 C2752074 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Alfa-cetoglutarato desidrogenase, deficiência de Alpha-Ketoglutarat-Dehydrogenase-Mangel Alpha-ketoglutarate dehydrogenase deficiency Deficit di alfa chetoglutarato deidrogenasi Deficiência de alfa-cetoglutarato desidrogenase Déficit en alpha-cétoglutarate déshydrogénase Aciduria ossoglutarica Aciduria oxoglutárica Acidurie oxoglutarique Acidúria oxoglutárica Oxoglutarazidurie Oxoglutaricaciduria hrdo:pat_id_12590 10058328 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Foeto+foetal%5Bti%5D+OR+Twin+to+twin%5Bti%5D+OR+twin+twin%5Bti%5D)+transfusion+OR+Fetofetal+Transfusion%5Bmh%5D O43.0 95431 disease Feto-fetal transfusion syndrome Feto-fetales Transfusions-Syndrom STT Sindrome della trasfusione feto-fetale Syndrome transfuseur-transfusé Síndrome de transfusión feto-fetal Sindrome da trasfusione gemello-gemello Syndrome de transfusion foeto-foetale Síndrome de transfusión gemelo-gemelo Síndrome de transfusão de gémeo-para-gémeo Twin to twin transfusion syndrome Zwilling-zu-Zwilling-Transfusion-Syndrom hrdo:pat_id_12591 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D018888 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Aphasia,+primary+progressive G31.0 95432 C0282513 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes APP Mesulam syndrome Mesulam-Syndrom PPA PPA PPA PPA Sindrome di Mesulam Syndrome de Mesulam Síndrome de Mesulam Afasia primaria progressiva Afasia primária progressiva Afasia progresiva primaria Aphasie primaire progressive Aphasie, primäre progressive Primary progressive aphasia hrdo:pat_id_12592 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 271250 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Cerebellar+ataxia+blindness+deafness+NOT+mitochondr* G11.1 95433 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SCAR3 SCAR3 SCAR3 SCAR3 SCAR3 Atassia cerebellare autosomica recessiva - cecità - sordità Ataxia cerebelosa autosómica recesiva - ceguera - sordera Ataxia cerebelosa, autossómica recessiva - cegueira - surdez Ataxie cérébelleuse autosomique récessive - cécité - surdité Ataxie, autosomal-rezessive zerebelläre - Blindheit - Schwerhörigkeit Autosomal recessive cerebellar ataxia - blindness - deafness hrdo:pat_id_12593 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 607317 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=((SPINOCEREBELLAR+ataxia++OR+Cerebellar+ataxia)+saccad*+Ocular+Motility+Disorders)+NOT+dominant G11.1 95434 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SCAR4 SCAR4 SCAR4 SCAR4 SCAR4 SCASI SCASI SCASI SCASI SCASI Atassia cerebellare autosomica recessiva - intrusione saccadica Ataxia cerebelosa autosómica recesiva - intrusión sacádica Ataxia cerebelosa, autossómica recessiva - intrusão sacádica Ataxie cérébelleuse autosomique récessive - saccade oculaire Ataxie, autosomal-rezessive zerebelläre - einschließende Sakkaden Autosomal recessive cerebellar ataxia - saccadic intrusion hrdo:pat_id_12594 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(mesocardia+Heart+Defects,+Congenital+OR+Mesocardia%5Bti%5D+OR+Midline+heart%5Btw%5D)+(humans+OR+patient) Q24.8 95443 16567006 C0265865 morphological anomaly Corazón en la línea media Cuore mediano Midline heart Mesocardia Mesocardia Mesocardia Mesocardia Mesokardie Mésocardie hrdo:pat_id_12595 10066801 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=atresia%5Bti%5D+Aortic+Valve%2Fab+OR+Aortic+valve+atresia%5Btw%5D Q23.0 95448 clinical subtype Aortenklappenatresie Aortic valve atresia Atresia da válvula aórtica Atresia de la válvula aórtica Atresia della valvola aortica Atrésie valvulaire aortique hrdo:pat_id_12596 10010370 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Aortic+valve+insufficiency+congenital Q23.1 95449 28656008 C0158617 disease Aortenklappeninsuffizienz, kongenitale Congenital aortic valve insufficiency Insufficienza della valvola aortica Insuffisance aortique congénitale Insuficiencia congénita de la válvula aórtica Insuficiência da válvula aórtica, congénita hrdo:pat_id_12597 Variabel Variabile Variable Variable Variable Variable Variável 608579 D004816 10044223 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Stevens+Johnson+Syndrome+OR+toxic+epidermal+necrolysis L51.2 95455 C0014518 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Epidermolisi tossica Epidermolyse toxique Epidermolyse, toxische Epidermólisis tóxica NET SJS-TEN SJS-TEN SJS-TEN SJS-TEN SJS-TEN Toxic epidermolysis Necrolisi epidermica tossica Necrólise epidérmica Necrólisis epidérmica tóxica Nekrolyse, epidermale toxische Nécrolyse épidermique toxique Toxic epidermal necrolysis hrdo:pat_id_12598 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Tricuspid%5Bti%5D++(agenesis%5Bti%5D+OR+absence%5Bti%5D+OR+absent%5Bti%5D+OR+missing%5Bti%5D)+tricuspid+valve%2Fab+NOT+tricuspid+atresia Q22.8 95457 morphological anomaly Congenital unguarded tricuspid orifice Orificio tricúspide descubierto congénito Orifizio tricuspidale pervio congenito Trikusipdalatresie, kongenitale Agenesia da válvula tricúspide Agenesia de la válvula tricúspide Agenesia della valvola tricuspide Agénésie des valves tricuspides Tricuspid valve agenesis Trikusipdalklappenagenesie hrdo:pat_id_12599 D014263 10066862 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Tricuspid+valve+prolapse Q22.8 95458 253383003 C0040962 morphological anomaly Prolapso da válvula tricúspide Prolapso de la válvula tricúspide Prolapsus valvulaire tricuspide Prolasso della valvola tricuspide Tricuspid valve prolapse Trikusipdalklappenprolaps hrdo:pat_id_126 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 188400 192430 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(monosomy%5Bti%5D+22q11%5Bti%5D)+OR+del22q11%5Btw%5D+OR+deletion+22q11%5Btw%5D+OR+22q11+deletion%5Btw%5D+OR+digeorge+syndrome%5Bmh%5D D82.1 567 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown 22q11DS 22q11DS CATCH 22 CATCH 22 CATCH 22 CATCH 22 CATCH 22 CATCH 22 Cayler cardiofacial syndrome Conotruncal anomaly face syndrome Di George-Syndrom DiGeorge sequence DiGeorge syndrome DiGeorge, síndrome de DiGeorge-Sequenz Microdeleción 22q11 Microdeletion 22q11.2 Microdelezione 22q11 Microdélétion 22q11.2 Mikrodeletion 22q11 Monosomie 22q11 Monosomy 22q11 Secuencia DiGeorge Sedlackova syndrome Sedlackova-Syndrom Sequenza di DiGeorge Shprintzen syndrome Shprintzen, síndrome de Sindrome da anomalie facciali e troncoconali Sindrome di DiGeorge Sindrome di Sedlackova Sindrome di Shprintzen Sindrome velo-cardio-facciale Sphrintzen-Syndrom Syndrom der konotrunkalen Anomalie mit Gesichtsdysmorphie Syndrome cardio-facial de Cayler Syndrome de DiGeorge Syndrome de Sedlackova Syndrome de Shprintzen Syndrome de Takao Syndrome des anomalies conotroncales et de la face Syndrome vélo-cardio-facial Séquence de DiGeorge Síndrome DiGeorge Síndrome de DiGeorge Síndrome de Sedlackova Síndrome de Shprintzen Síndrome de Shprintzen Síndrome de anomalías conotruncales y de la cara Síndrome velocardiofacial Síndrome velocardiofacial (VCF) Takao syndrome Velocardiofacial syndrome Velocardiofacial, síndrome (VCF) Velokardiofaziales Syndrom 22q11.2 deletion syndrome Deletion 22q11 Microdeleção 22q11 Monosomia 22q11 Monosomía 22q11 Syndrome de délétion 22q11.2 hrdo:pat_id_1260 236795 C535312 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=3+hydroxyisobutyric+AND+%28aciduria+OR+acidosis+OR+ketoacidosis%29 E71.1 939 237957007 C0342737 disease 3-Hydroxy-Isobuttersäure-Krankheit 3-hydroxyisobutyric aciduria Aciduria 3 hidroxi-isobutírica Aciduria 3-idrossi-isobutirrica Acidurie 3-hydroxy-isobutyrique Acidúria 3-hidroxiisobutírica hrdo:pat_id_12600 10010656 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Tricuspid+valve+stenosis%2Fcn+OR+(congenital%5Bti%5D+Tricuspid+stenosis%5Bti%5D) Q22.4 95459 36233006 C0265836 morphological anomaly Congenital tricuspid stenosis Estenose da tricúspide, congénita Estenosis tricuspídea congénita Stenosi congenita della tricuspide Sténose tricuspide congénitale Trikuspidal- klappenstenose, kongenitale hrdo:pat_id_12601 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Tricuspid+valve+(straddling%5Bti%5D+OR+overriding%5Bti%5D)+(humans+OR+patient) Q22.8 95461 morphological anomaly Straddling or overriding tricuspid valve Straddling ou overriding de la valve tricuspide Trikusipdalklappe, gespreizte und/oder reitende Valvola tricuspide divaricata Válvula tricúspide acabalgada o sobrepuesta Válvula tricúspide, com straddling ou overriding hrdo:pat_id_12602 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Tricuspid+valve%2Fab+accessory+tissue Q22.8 95462 morphological anomaly Accessory tricuspid valve tissue Tessuto accessorio della valvola tricuspide Tissu accessoire tricuspide Trikusipdalklappe mit akzessorischem Gewebe Válvula tricúspide del tejido accesorio Válvula tricúspide, tecido acessório hrdo:pat_id_12603 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=parachute%5Bti%5D+tricuspid+NOT+parachute+mitral+valve%5Btw%5D Q22.8 95463 group of phenomes Anomalia dell'apparato subvalvolare tricuspidale Anomalia do aparelho tricúspide subvalvular Anomalie de l'appareil sous-valvulaire tricuspide Anomaly of the tricuspid subvalvular apparatus Anomalía del aparato subvalvular tricuspíde Trikuspider subvalvulärer Apparat, Anomalie des hrdo:pat_id_12604 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(mitral+valve+insufficiency+OR+mitral+valve+stenosis)+congenital Q23.2 Q23.3 95464 group of phenomes Congenital mitral valve insufficiency and/or stenosis Insufficienza o stenosi congenita della valvola mitrale Insuffisance et/ou sténose de la valve mitrale Insuficiencia de la válvula mitral o estenosis congénita Insuficiência ou estenose congénita da válvula mitral Mitralklappeninsuffizienz oder -stenose, kongenitale hrdo:pat_id_12605 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=cleft+mitral+valve%5Btw%5D+OR+mitral+valve+cleft%5Btw%5D Q23.3 95465 morphological anomaly Cleft mitral valve Fenda da Válvula mitral Fente mitrale Mitralklappenspalt Schisi della valvola mitrale Válvula mitral hendida hrdo:pat_id_12606 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=double+orifice%5Btw%5D+mitral+valve+AND+mitral%5Bti%5D+NOT+repair%5Bti%5D Q23.8 95474 253402005 C0344770 clinical subtype Doppio orifizio della valvola mitrale Double orifice de la valve mitrale Double-orifice mitral valve Duplo orifício da válvula mitral Mitralklappe, 'double-orifice'-Technik Válvula mitral con doble orificio hrdo:pat_id_12607 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Univentricular%5Btw%5D+(heart+defects,+congenital+OR+heart+ventricles%2Fab) 95483 group of phenomes Cardiopathie univentriculaire Cardiopatia univentricular Cardiopatie univentricolari Cardiopatía univentricular Kardiopathie, univentrikuläre Univentricular cardiopathy hrdo:pat_id_12608 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=ascending+aorta%5Btw%5D+(aneurysm%5Bti%5D+OR+dilation%5Bti%5D+OR+aortic+aneurysm%5Bmajr%5D) Q25.4 95484 morphological anomaly Aneurisma o dilatación de la aorta ascendente Aneurisma o dilatazione dell'aorta ascendente Aneurisma ou dilatação da aorta ascendente Aneurysm or dilatation of ascending aorta Aneurysma oder Dilatation der Aorta ascendens Dilatation ou anévrysme congénital de l'aorte ascendante hrdo:pat_id_12609 95485 group of phenomes Anomalie del dotto arterioso Anomalía del conducto arterioso persistente Anomalía del conducto arterioso persistente (PDA, siglas en inglés) Offener Ductus arteriosus mit Anomalien Patent ductus arteriosus anomalies Anomalias do ducto arterial Anomalie del dotto arterioso pervio Anomalie du canal artériel Anomalías de los conductos arteriales Arterial duct anomaly Ductus arteriosus-Anomalien hrdo:pat_id_12610 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(ductus+arteriosus+OR+arterial+duct)+(premature+clos*%5Btw%5D) Q25.8 95486 morphological anomaly Chiusura prematura del dotto arterioso Cierre prematuro del conducto arterioso persistente Premature closure of the patent ductus arteriosus Chiusura prematura del dotto arterioso pervio Cierre prematuro del conducto arterial Ductus arteriosus, vorzeitiger Verschluss des Encerramento prematuro do canal arterial Fermeture anténatale du canal artériel Premature closure of the arterial duct hrdo:pat_id_12611 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=atypical%5Bti%5D+Ductus+Arteriosus,+Patent Q25.8 95487 clinical subtype Atypical patent ductus arteriosus Conducto arterioso persistente atípico Dotto arterioso atipico Offener Ductus arteriosus, atypischer Atypical arterial duct Canal arterial atípico Canaux artériels atypiques Conducto arterial atípico Dotto arterioso pervio atipico Ductus arteriosus, atypischer hrdo:pat_id_12612 neant E23.0 95488 group of phenomes Deficit non acquisito degli ormoni pituitari Deficiência de hormona pituitária, não-adquirida Déficit de hormona hipofisaria no adquirido Hypophysenhormon-Mangel, nicht erworbener Insuffisance hypophysaire non acquise Nonacquired pituitary hormone deficiency hrdo:pat_id_12615 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Coronary+Aneurysm%2Fcn+OR+Coronary%5Bti%5D+Aneurysm%5Bti%5D+congenital Q24.5 95491 morphological anomaly Aneurisma congenito della coronaria Aneurisma congénito de las arterias coronarias Aneurisma da artéria coronária, congénito Anévrysme congénital des artères coronaires Congenital coronary artery aneurysm Koronararterienaneurysma, kongenitales hrdo:pat_id_12617 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Coronary+arteries%2Fab+(origin%5Bti%5D+OR+malposition%5Bti%5D+OR+stenosis%5Bti%5D+OR+atroph*%5Bti%5D+Or+intramural%5Bti%5D+OR+intramyocard*%5Bti%5D) Q24.5 95493 group of phenomes Abnormal origin or aberrant course of coronary artery Anomalia da inserção ou do percurso da artéria coronária Anomalie de naissance ou de trajet de l'artère coronaire Anomalie di formazione e di percorso delle coronarie Koronararterie, abnormaler Ursprung oder aberrante Verlauf der Orígen anómalo o curso aberrante de las arterias coronarias hrdo:pat_id_12618 182230 262600 613038 613986 neant E23.0 95494 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficit multipli dell'ormone ipofisario, forme genetiche Déficit múltiple de hormonas hipofisarias, formas genéticas Déficits hypohysaires combinés de cause génétique identifée Familial congenital hypopituitarism Hipopituitarismo familiar congénito Hypophysenhormon-Mangel, multipler, genetisch bedingte Formen Hypophysenhormon-Mangel, multipler, genetische Formen Hypopituitarisme congenital familial Hypopituitarismus, familiärer Hypopituitarismus, familiärer kongenitaler Ipopituitarismo familiare congenito Multiple pituitary hormone deficiencies, genetic forms Combined pituitary hormone deficiencies, genetic forms Deficit combinati dell'ormone ipofisario, forme genetiche Deficiências combinadas hormona pituitária, formas genéticas Déficits combinados de hormonas hipofisarias, formas genéticas Déficits hypohysaires multiples de cause génétique identifée Hypophysenhormon-Mangel, kombinierter, genetisch bedingte Formen hrdo:pat_id_12619 neant E23.0 Q87 95495 group of phenomes Deficiência não-adquirida combinada da hormona pituitária, com malformações associadas Disease associated with nonacquired combined pituitary hormone deficiency Enfermedad asociada a un déficit combinado de hormonas hipofisarias no adquirido Hypophysenhormon-Mangel, nicht erworbener, kombinierter, mit assoziierten Fehlbildungen Maladie associée à une insuffisance hypophysaire multiple non acquise Malattia associata a deficit combinato degli ormoni ipofisari non acquisito hrdo:pat_id_12620 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant E23.6 95496 Desconhecido Desconocido Esporádica Esporádico Inconnu Sconosciuto Sporadic Sporadic Sporadica Sporadique Sporadisch Unbekannt Unknown Unknown morphological anomaly <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Ectopic neurohypophysis Neurohypophyse, ektopische Neuroipofisi ectopica PSIS PSIS PSIS PSIS Posthypophyse ectopique Rupture de la tige hypophysaire Syndrome d'interruption de la tige hypophysaire Syndrome d'interruption de la tige pituitaire Hypophysenstieldurchtrennung, isolierte Neurohipófise ectópica, isolada Pituitary stalk interruption syndrome Rupture de la tige pituitaire Sindrome da interruzione del peduncolo ipofisario Síndrome de interrupción del tallo hipofisario hrdo:pat_id_12622 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=superior+vena+cava%5Btw%5D+venae+cavae%2Fab+congenital 95498 70195006 C0265928 group of phenomes Anomalies congénitales de la VCS Congenital anomaly of superior caval vein Congenital anomaly of the SVC Obere Hohlvene, kongenitale Anomalie der SVC Anomalia congenita della vena cava superiore (SVC) Anomalia congénita da veia cava superior (SVC) Anomalies congénitales de la veine cave supérieure Anomalía congénita de la vena cava superior Congenital anomaly of superior vena cava Vena cava superior, kongenitale Anomalie der hrdo:pat_id_12623 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=vena+cava,inferior%2Fab+cardiovascular+abnormalities Q26.8 95499 81577001 C0265932 group of phenomes Congenital anomaly of the IVC Congenital anomaly of the inferior caval vein IVC Untere Hohlvene, kongenitale Anomalie der Anomalia congenita della vena cava inferiore (IVC) Anomalia congénita da veia cava inferior (IVC) Anomalie congénitale de la veine cave inférieure Anomalía congénita de la vena cava inferior Congenital anomaly of the inferior vena cava Vena cava inferior, kongenitale Anomalie der hrdo:pat_id_12624 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=coronary+sinus%5Btw%5D+Coronary+vessels%2Fab Q21.1 95500 group of phenomes Anomalia congenita del seno coronarico Anomalia congénita do seio coronário Anomalie congénitale du sinus coronaire Anomalía congénita del seno coronario Congenital anomaly of the coronary sinus Koronarsinus, kongenitale Anomalie des hrdo:pat_id_12625 95501 group of phenomes Congenital central diabetes insipidus Diabete insipido centrale congenito Diabetes insipidus central, congénito Diabetes insipidus, kongenitaler zentraler Diabetes insípida central congénita Diabète insipide d'origine centrale congénital hrdo:pat_id_12626 neant E23.0 95502 group of phenomes Acquired pituitary hormone deficiency Deficit acquisito degli ormoni pituitari, escluso il craniofaringioma Deficiência adquirida da hormona pituitária, excluindo craniofaringioma Déficit de hormonas pituitarias adquirido Hypophysenhormon-Mangel, erworbener Insuffisance hypophysaire acquise hrdo:pat_id_12627 95503 group of phenomes Deficiencia de la hormona pituitaria, tumoral Deficit degli ormoni pituitari tumorale Deficiência da hormona pituitária, tumoral Hypophysenhormon-Mangel, tumorbedingter Insuffisance hypophysaire d'origine tumorale Pituitary hormone deficiency from tumoral origin hrdo:pat_id_12628 95504 group of phenomes Deficit metastatico degli ormoni ipofisari Deficiências da hormona pituitária metastática Déficit hypophysaire d'origine métastatique Hypophysenhormon-Mangel, metastatischer Insuficiencia metastásica de hormonas hipofisarias Metastatic pituitary hormone deficiency hrdo:pat_id_12629 95505 group of phenomes Deficiencia de hormona pituitaria debido a enfermedad de las meninges Deficit degli ormoni pituitari da malattia delle meningi Deficiência da hormona pituitária de origem meníngea Hypophysenhormon-Mangel durch meningeale Krankheit Insuffisance hypophysaire d'origine méningée Pituitary hormone deficiency from meningeal origin hrdo:pat_id_1263 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 251000 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(methylmalonic+acid*%5Btw%5D)+(unresponsive+OR+nonresponsive+OR+%22mut(0)%22+OR+%22mut0%22+OR+%22mut+0%22)+OR+Methylmalonyl+CoA+Mutase%2Fdf E71.1 27 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Aciduria metilmalonica resistente alla vitamina B12 Aciduria metilmalónica resistente a vitamina B12 Acidurie méthylmalonique résistante à la vitamine B12 Deficiência de metilmalonil-CoA mutase Methylmalonyl-CoA-Mutase-Mangel Methylmalonylazidämie, Vitamin B12-resistente Metilmalonil-CoA mutase, deficiência de Vitamin B12-unresponsive methylmalonic aciduria Acidemia metilmalonica resistente alla vitamina B12 Acidemia metilmalónica resistente a vitamina B12 Acidémie méthylmalonique résistante à la vitamine B12 Acidúria metilmalónica insensível à vitamina B12, mut 0 Methylmalonylazidurie, Vitamin B12-resistente Vitamin B12-unresponsive methylmalonic acidemia hrdo:pat_id_12630 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant E23.6 95506 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Autoimmune hypophysitis Hipofisitis autoinmune Hypophysite auto-immune Ipofisite autoimmune Deficiência da hormona pituitária de origem autoimune Hipofisitis primaria Hypophysenhormon-Mangel, autoimmuner Hypophysite primitive Ipofisite primitiva Primary hypophysitis hrdo:pat_id_12631 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Arteriovenous+Malformations+Hepatic+vein%2Fab Q26.8 95507 morphological anomaly Anomalia congenita della vena epatica Anomalia congénita da veia hepática Anomalies des veines sus-hépatiques Anomalía congénita de la vena hepática Congenital anomaly of hepatic vein Lebervene, kongenitale Anomalie der hrdo:pat_id_12634 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Heart+Atria%2Fab%5Bmajr%5D+OR+Heart+Septal+Defects,+Atrial%5Bmajr%5D Q20.8 95510 group of phenomes Atrial auricle anomaly Anomalias do pavilhão auricular Anomalie dei padiglioni auricolari Anomalie des auricules Atrial appendage anomaly Defectos de la aurícula Ohrmuscheldefekt hrdo:pat_id_12636 neant E23.6 95512 disease Anterior pituitary hypophysitis Hipofisitis pituitaria anterior Hypophysite de l'hypophyse antérieure Ipofisite dell'ipofisi anteriore Adeno-hipofisite linfocítica Adenohipofisitis Adenohypophysitis Adenohypophysitis, lymphozytische Adenoipofisite Adénohypophysite hrdo:pat_id_12637 neant E23.6 95513 disease Infundibulo-panhypophysitis Infundibulohypophysitis, nekrotisierende Pan-hypophysite infundibulaire Panhipofisitis - infundibulo Panipofisite infundibolare Hipofisite necrotizante Hypophysitis, nekrotisierende Pan-hypophysite Panhipofisitis Panhypophysitis Panipofisite hrdo:pat_id_12639 95611 group of phenomes Deficiencia de la hormona pituitaria, de origen vascular Deficit degli ormoni pituitari di origine vascolare Deficiência da hormona pituitária de origem vascular Hypophysenhormon-Mangel mit vaskulärem Ursprung Insuffisance hypophysaire d'origine vasculaire Pituitary hormone defiency from vascular origin hrdo:pat_id_1264 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance C535570 D009436 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=acalvaria+OR+%28Acrania%5Bti%5D+NOT+Amniotic+Band%5Btw%5D%29+OR+%28APLASIA+CUTIS+CONGENITA%5Btw%5D+%28skull%29+Dura+Mater%29 Q75.8 945 203923004 36745003 C0702169 C2930936 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Absence de voûte crânienne Acrania Acrania Agenesia della volta cranica Ausencia de bóveda craneana Acalvaria Acalvaria Acrania Acrania Acranie Akranie hrdo:pat_id_12640 Variabel Variabile Variable Variable Variable Variable Variável D010899 10056447 95613 237701005 C0032001 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Apoplejía hipofisaria Apoplessia ipofisaria Apoplexia da pituitária Apoplexie hypophysaire Hypophyseninfarkt Pituitary apoplexy hrdo:pat_id_12641 95614 disease Deficit ipofisario secondario a emorragia meningea Deficiência da pituitária secundária a hemorragia das meninges Déficit de hormonas hipofisarias secundario a hemorragia meníngea Déficit hypophysaire secondaire à une hémorragie méningée Hypophysenfunktionsstörung, sekundäre, bei Meningealblutung Pituitary deficiency secondary to meningeal hemorrhage hrdo:pat_id_12642 95615 group of phenomes Deficit ipofisario secondario a aneurisma Deficiência da pituitária secundária a aneurisma Déficit de hormonas hipofisarias secundario a aneurisma Déficit hypophysaire secondaire à un anévrysme Hypophysenfunktionsstörung, sekundäre, bei Aneurysma Pituitary deficiency secondary to an anevrysm hrdo:pat_id_12643 95617 group of phenomes Deficiencia de la hormona pituitaria, secundaria a enfermedad granulomatosa Deficit degli ormoni pituitari secondaria a malattia granulomatosa Deficiência da pituitária secundária a doença granulomatosa Hypophysenhormon-Mangel, sekundärer, bei Granulomatose Insuffisance hypophysaire d'origine granulomateuse Pituitary hormone deficiency secondary to a granulomatous disease hrdo:pat_id_12644 95618 group of phenomes Deficiencia de la hormona pituitaria, secundaria a una enfermedad de almacenamiento Deficit degli ormoni pituitari secondaria a malattia da accumulo Deficiência da pituitária secundária a doença de armazenamento Hypophysenhormon-Mangel, sekundärer, bei Speicherkrankheit Insuffisance hypophysaire secondaire à une maladie de surcharge Pituitary hormone deficiency secondary to storage disease hrdo:pat_id_12645 95619 disease Deficiencia de la hormona pituitaria, iatrogénica o traumática Deficit ipofisario iatrogenico o traumatico Deficiência da pituitária, iatrogénica ou traumática Hypophysenfunktionsstörung, iatrogene oder traumatische Iatrogenic or traumatic pituitary deficiency Insuffisance hypophysaire d'origine iatrogène ou traumatique hrdo:pat_id_12646 95621 disease Hipopituitarismo posquirúrgico Hipopituitarismo pós-cirúrgico Hypopituitarisme post-chirurgical Hypopituitarismus, postoperativer Ipopituitarismo post-chirurgico Post-surgical hypopituitarism hrdo:pat_id_12647 95622 disease Hipopituitarismo inducido por radiación Hipopituitarismo induzido por radiação Hypopituitarisme post-radique Hypopituitarismus, Strahleninduzierter Ipopituitarismo indotto da radiazioni Radiation-induced hypopituitarism hrdo:pat_id_12648 95623 disease Hipopituitarismo postraumático Hipopituitarismo pós-traumático Hypopituitarisme post-traumatique Hypopituitarismus, postraumatischer Ipopituitarismo post-traumatico Post-traumatic hypopituitarism hrdo:pat_id_12649 95625 disease Diabete insipido post-traumatico Diabetes insipida postraumática Diabetes insipidus pós-traumático Diabetes insipidus, postraumatischer Diabète insipide post-traumatique Post-traumatic diabetes insipidus hrdo:pat_id_1265 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 10000590 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Acrocephalosyndactylia%5Bmajr%5D+OR+Acrocephalosyndactyly%5Bti%5D Q87.0 946 268262006 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Acro-céphalo-syndactylie Acrocefalosindactilia (término genérico) Acrocefalosindattilia Acrocefalossindactilia (termo genérico) Acrocephalosyndactyly Akrozephalopolydaktylie hrdo:pat_id_12650 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável neant E23.2 95626 clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Acquired CDI Acquired neurogenic diabetes insipidus CDI acquisito CDI adquirida DIC acquis Diabete insipido neurogeno acquisito Diabetes insipida neurogénica adquirida Diabète insipide neurogène acquis Acquired central diabetes insipidus Diabete insipido centrale acquisito Diabetes insipida central adquirida Diabetes insipidus, adquirido, idiopático Diabète insipide central acquis Zentraler Diabetes insipidus, erworbener idiopathischer hrdo:pat_id_12653 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 201910 neant E25.0 95698 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Hiperplasia suprarrenal congénita no clásica por deficiencia de 21 hidroxilasa NCAH NCAH Hiperplasia suprarrenal congénita no clásica por déficit de 21 hidroxilasa Hiperplasia suprarrenal congénita por deficiência na 21-hidroxilase (forma não clássica) Hyperplasie congénitale des surrénales par déficit en 21-hydroxylase non-classique Iperplasia surrenalica congenita da deficit di 21-idrossilasi, forma non classica Nebennierenhyperplasie, kongenitale, durch 21-Hydroxylase-Mangel, nicht-klassische Form Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency hrdo:pat_id_12654 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613571 neant E25.0 95699 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Congenital adrenal hyperplasia due to cytochrome POR deficiency Déficit en POR POR deficiency PORD PORD Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency Hiperplasia adrenal congénita debida al déficit de citocromo P450 oxidoreductasa (POR) Hiperplasia suprarrenal congénita por deficiência na citocromo P450 oxidorreductase (POR) Hyperplasie congénitale des surrénales par déficit en cytochrome P450 oxydoréductase (POR) Iperplasia surrenalica congenita da deficit di citocromo P450 ossidoreduttasi (POR) Nebennierenhyperplasie, kongenitale, durch Cytochrome P450-Oxydoreduktase (POR)-Mangel hrdo:pat_id_12655 202150 neant E27.1 95700 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Familial adrenal hypoplasia with absent pituitary LH Familial adrenal hypoplasia, miniature type Hypoplasie surrénalienne familiale sans LH Hypoplasie surrénalienne familiale type miniature Familial adrenal hypoplasia with absent pituitary luteinizing hormone Hipoplasia suprarrenal familiar Hipoplasia suprarrenal familiar Hypoplasie surrénalienne familiale sans hormone lutéinisante Ipoplasia surrenalica familiare Nierenhypoplasie, familiäre hrdo:pat_id_12656 neant E27.1 95701 disease Congenital adrenal hypoplasia of maternal cause Hipoplasia adrenal congénita de origen materno Hipoplasia suprarrenal congénita de causa materna Hypoplasie surrénalienne congénitale de cause maternelle Ipoplasia surrenalica congenita con origine materna Nierenhypoplasie, kongenitale, maternalen Ursprungs hrdo:pat_id_12657 202155 300200 neant E27.1 95702 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Hipoplasia adrenal congénita ligada al X Hypoplasie surrénalienne congénitale liée à l'X Ipoplasia surrenalica congenita legata all'X Nierenhypoplasie, kongenitale, X-chromosomale X-linked congenital adrenal hypoplasia Cytomegalic congenital adrenal hypoplasia Hipoplasia adrenal congénita citomegálica Hipoplasia suprarrenal congénita citomegálica Hypoplasie surrénalienne congénitale cytomégalique Ipoplasia surrenalica congenita, tipo citomegalico Nierenhypoplasie, kongenitale zytomegale hrdo:pat_id_12661 neant Q54.2 95706 morphological anomaly Hipospadias escrotales o pene-escrotales Hipospadias, escrotales o penoescrotales Hypospadias scrotal ou péno-scrotal Hypospadie, skrotale or penoskrotale Scrotal or penoscrotal hypospadias Formas severas de hipospadias Forme gravi di ipospadia Hipospadias, formas graves Hypospadias sévères Hypospadie, schwere Formen Severe hypospadias hrdo:pat_id_12662 neant Q55.6 95707 morphological anomaly Isolated micropenis Micropene aislado Micropene isolato Micropenis isolado Micropénis isolé Mikropenis, isolierte Form hrdo:pat_id_12663 D011629 10044701 10058084 neant E22.8 E30.1 95708 123527003 400179000 C0034013 group of phenomes Precocious puberty Puberdade precoce Pubertad precoz Pubertà precoce Pubertät, vorzeitige Puberté précoce hrdo:pat_id_12664 neant E28.8 95709 group of phenomes Acquired premature ovarian failure Insufficienza ovarica precoce acquisita Insuffisance ovarienne précoce acquise Insuficiencia ovárica precoz adquirida Insuficiência ovárica prematura, adquirida Ovarialinsuffizienz, vorzeitige, erworbene hrdo:pat_id_12665 neant E28.3 95710 group of phenomes Insufficienza ovarica precoce non acquisita Insuffisance ovarienne précoce non acquise Insuficiencia ovárica precoz no adquirida Insuficiência ovárica prematura, não-adquirida Non-acquired premature ovarian failure Ovarialinsuffizienz, vorzeitige, nicht-erworbene hrdo:pat_id_12666 218700 225250 neant E03.1 95711 group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Hipotiroidismo congénito primario por anomalía del desarrollo Hypothyroïdie congénitale primitive par anomalie de développement de la thyroïde Ipotiroidismo congenito primitivo da anomalia dello sviluppo Primary congenital hypothyroidism due to developmental anomaly Congenital hypothyroidism due to developmental anomaly Hipotiroidismo congénito por anomalía del desarrollo Hipotiroidismo, congénito, por anomalia do desenvolvimento Hypothyroïdie congénitale par anomalie de développement de la thyroïde Ipotiroidismo congenito da anomalia dello sviluppo Schilddrüsen-Dysgenesie hrdo:pat_id_12667 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 218700 neant E03.1 95712 morphological anomaly 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Ectopia da tiroide Ectopia tiroidea Ectopia tiroidea Ectopie thyroïdienne Schilddrüsenektopie Thyroid ectopia hrdo:pat_id_12668 218700 225250 neant E03.1 95713 morphological anomaly 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Athyreose Athyreosis Athyréose Atireose Atireosi Atireosis hrdo:pat_id_12669 274400 274500 274700 274800 274900 275200 607200 610978 neant E03.0 E03.1 95714 group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hipotiroidismo congénito primario sin anomalía del desarrollo del tiroides Hipotiroidismo, congénito, sem anomalia do desenvolvimento Hypothyreose, kongenitale primäre, ohne Entwicklungsanomalie der Schilddrüse Hypothyroïdie congénitale primitive sans anomalie de développement de la thyroïde Ipotiroidismo congenito primitivo senza anomalia dello sviluppo della tiroide Primary congenital hypothyroidism without thyroid developmental anomaly hrdo:pat_id_1267 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 201050 Q87.0 949 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Kaplan-Plauchu-Fitch syndrome Kaplan-Plauchu-Fitch, síndrome de Kaplan-Plauchu-Fitch-Syndrom Sindrome di Kaplan-Plauchu-Fitch Syndrome de Kaplan-Plauchu-Fitch Síndrome de Kaplan-Plauchu-Fitch Síndrome de Kaplan-Plauchu-Fitch Acrocraniofacial dysostosis Disostose acro-cranio-facial Disostosi acro-cranio-facciale Disostosis acrocraneofacial Dysostose acro-cranio-faciale Dysostose, akro-kranio-faziale hrdo:pat_id_12670 neant P72.2 95715 disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies Hipotiroidismo congénito devido à passagem através da placenta de anticorpos maternos inibidores da ligação à TSH Hipotiroidismo congénito por el paso a través de la placenta de anticuerpos maternos inhibidores de la unión a TSH Hypothyreose, kongenitale, bei transplazentarer Passage von maternalen TSH-bindenden inhibitorischen Antikörpern Hypothyroïdie congénitale par passage transplacentaire d'anticorps maternels anti-récepteur de la TSH Ipotiroidismo congenito dovuto al passaggio transplacentare degli anticorpi materni anti-TSH hrdo:pat_id_12671 274400 274500 274700 274800 274900 607200 neant 95716 disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Disormonogenesi tiroidea Dyshormonosynthèse thyroïdienne Schilddrüsen-Dyshormonogenese Schilddrüsendysgenesie Thyroid dyshormonogenesis Dishormonogenese da tiroide, familiar Dishormonogénesis tiroidea familiar Disormonogenesi tiroidea familiare Familial thyroid dyshormonogenesis Hypothyroïdie familiale par anomalie de l'hormonosynthèse thyroïdienne Schilddrüsendysfunktion, familiäre hrdo:pat_id_12672 neant E03.1 95717 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hipotiroidismo congénito idiopático Hipotiroidismo, congénito idiopático Hypothyreose, kongenitale, idiopathische Hypothyroïdie congénitale idiopathique Idiopathic congenital hypothyroidism Ipotiroidismo idiopatico congenito hrdo:pat_id_12673 95718 group of phenomes Congenital thyroid malformation without hypothyroidism Malformación de la tiroides, sin hipotiroidismo, congénita Malformation congénitale de la thyroïde sans hypothyroïdie Malformazione tiroidea congenita senza ipotiroidismo Malformação congénita da tiroide sem hipotiroidismo Schilddrüsenfehlbildung ohne Hypothyreose, kongenital hrdo:pat_id_12674 218700 neant E03.1 95719 morphological anomaly 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Emiagenesia tiroidea Hemiagenesia da tiroide Hemiagenesia tiroidea Hémiagénésie de la thyroïde Schilddrüsenhemiagenesie Thyroid hemiagenesis hrdo:pat_id_12675 218700 225250 neant E03.1 95720 367524008 C0151516 morphological anomaly 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Hipoplasia da tiroide Hipoplasia tiroidea Hypoplasie de la thyroïde Ipoplasia tiroidea Schilddrüsenhypoplasie Thyroid hypoplasia hrdo:pat_id_12676 95721 morphological anomaly Lobe pyramidal de la thyroïde Lobo piramidal da tiroide Lobo piramidale tiroideo Lobus pyramidalis Lóbulo piramidal de la tiroides Thyroid pyramidal lobe hrdo:pat_id_12677 D007979 neant Q24.1 95854 205769006 C0023569 morphological anomaly Laevokardie - Situs inversus Levocardia - situs inversus Levocardia-situs inversus Lévocardie-situs inversus Laevokardie Levocardia Levocardia Levocardia Levocardia Lévocardie hrdo:pat_id_12679 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=%22Tetrasomy+21%22+Aneuploidy Q99.8 96055 malformation syndrome Isochromosom 21 Isochromosome 21 Isochromosome 21 Isocromosoma 21 Isocromosoma 21 Tetrasomia 21 Tetrasomie 21 Tetrasomie 21 Tetrasomy 21 Tetrasomía 21 Tetrassomia 21 hrdo:pat_id_1268 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 201100 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28acrodermatitis%5BMH%5D+OR+Acrodermatitis%5Bti%5D%29+%28zinc%5Bmh%5D+OR+zinc%5Bti%5D%29 E83.2 37 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Acrodermatite enteropatica Acrodermatite enteropática por deficiência de zinco Acrodermatite entéropathique avec déficit en zinc Acrodermatitis enteropathica, Zink-Mangel-Typ Acrodermatitis enteropathica, zinc deficiency type Acrodermatitis enteropática con déficit en cinc hrdo:pat_id_12683 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=((duplication%5Bti%5D+OR+trisomy)+(chromosome+4)+OR+trisomy+4%5Bti%5D)+mosaic* Q92.1 96059 malformation syndrome Mosaic trisomy 4 Mosaik-Trisomie 4 Trisomia 4 in mosaico Trisomie 4 en mosaïque Trisomía 4 en mosaico Trissomia 4 em mosaico hrdo:pat_id_12684 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=((duplication%5Bti%5D+OR+trisomy)+(chromosome+5)+OR+trisomy+5%5Bti%5D)+mosaic* Q92.1 96060 malformation syndrome Mosaic trisomy 5 Mosaik-Trisomie 5 Trisomia 5 in mosaico Trisomie 5 en mosaïque Trisomía 5 en mosaico Trissomia 5 em mosaico hrdo:pat_id_12685 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance C537940 10053916 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=((duplication%5Bti%5D+OR+trisomy%5Bmh%5D)+(chromosome+8)+OR+trisomy+8%5Bti%5D+OR+chromosome+8%5Bti%5D)+(mosaic*%5Bti%5D+OR+mosaicism%5Bmh%5D) Q92.1 96061 205646001 68454002 C1096527 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Sindrome di Warkany Syndrome de Warkany Síndrome de Warkany Warkany syndrome Warkany-Syndrom Mosaic trisomy 8 Mosaik-Trisomie 8 Trisomia 8 in mosaico Trisomie 8 en mosaïque Trisomía 8 en mosaico Trissomia 8 em mosaico hrdo:pat_id_12687 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=((duplication%5Bti%5D+OR+trisomy)+(chromosome+10)+OR+trisomy+10%5Bti%5D+OR+chromosome+10%5Bti%5D)+(mosaic*%5Bti%5D+OR+mosaicism%5Bmh%5D) Q92.1 96063 malformation syndrome Mosaic trisomy 10 Mosaik-Trisomie 10 Trisomia 10 in mosaico Trisomie 10 en mosaïque Trisomía 10 en mosaico Trissomia 10 em mosaico hrdo:pat_id_1269 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 101800 614613 C538179 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Acrodysostosis Q75.4 950 66758006 C0220659 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Acrodisplasia Acrodisplasia Acrodysplasia Acrodysplasie Akrodysplasie Arkless-Graham syndrome Arkless-Graham, síndrome de Arkless-Graham-Syndrom Maroteaux-Malamut syndrome Maroteaux-Malamut, síndrome de Maroteaux-Malamut-Syndrom Sindrome di Arkless-Graham Sindrome di Maroteaux-Malamut Syndrome d'Arkless-Graham Syndrome de Maroteaux-Malamut Síndrome de Arkless-Graham Síndrome de Maroteaux-Malamut Acrodisostose Acrodisostosi Acrodisostosis Acrodysostose Acrodysostosis Akrodysostose hrdo:pat_id_12692 C536796 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=((duplication%5Bti%5D+OR+trisomy)+(chromosome+22)+OR+trisomy+22%5Bti%5D+OR+chromosome+22%5Bti%5D)+(mosaic*%5Bti%5D+OR+mosaicism%5Bmh%5D) Q92.1 96068 C2931326 C2931327 malformation syndrome Mosaic trisomy 22 Mosaik-Trisomie 22 Trisomia 22 in mosaico Trisomie 22 en mosaïque Trisomía 22 en mosaico Trissomia 22 em mosaico hrdo:pat_id_12693 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(((Trisomy%5Bti%5D+OR+duplication%5Bti%5D)+1p36*%5Bti%5D)+OR+(chromosome+1+%221p36%22+trisomy))+NOT+(deletion+1p36*%5Bti%5D) Q92.3 96069 malformation syndrome Distal duplication 1p36 Distale Duplikation 1p36 Duplicación distal 1p36 Duplicación intersticial 1p36 Duplicación telomérica 1p36 Duplicación terminal 1p36 Duplication distale 1p36 Duplication télomérique 1p36 Duplicazione 1p36 distale Duplicazione 1p36 telomerica Telomeric duplication 1p36 Trisomia 1pter Trisomie 1pter Trisomie 1pter Trisomy 1pter Trisomía 1pter Distal trisomy 1p36 Trisomia distale 1p36 Trisomie 1p36, distale Trisomie distale 1p36 Trisomía terminal 1p36 Trissomia distal 1p36 hrdo:pat_id_12694 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=((Trisomy%5Bti%5D+OR+duplication%5Bti%5D+OR+(chromosome+2+trisomy))+2p*%5Bti%5D)+(distal+OR+telomer*+OR+subterminal+OR+pter+OR+2pter) Q92.3 96070 malformation syndrome Distal duplication 2p Duplicación distal 2p Duplicación intersticial 2p Duplicación telomérica 2p Duplicación terminal 2p Duplication distale 2p Duplication télomérique 2p Duplicazione 2p distale Duplicazione 2p telomerica Duplikation 2p, distale Telomeric duplication 2p Trisomia 2pter Trisomie 2pter Trisomie 2pter Trisomy 2pter Trisomía 2pter Distal trisomy 2p Trisomia 2p distale Trisomie 2p, distale Trisomie distale 2p Trisomía terminal 2p Trissomia distal 2p hrdo:pat_id_12695 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=((Trisomy%5Bti%5D+OR+duplication%5Bti%5D+OR+(chromosome+3+trisomy))+3p*%5Bti%5D)+(distal+OR+telomer*+OR+subterminal+OR+pter+OR+3pter) Q92.3 96071 malformation syndrome Distal duplication 3p Duplicación distal 3p Duplicación intersticial 3p Duplicación telomérica 3p Duplicación terminal 3p Duplication distale 3p Duplication télomérique 3p Duplicazione 3p distale Duplicazione 3p telomerica Duplikation 3p, distale Telomeric duplication 3p Trisomia 3pter Trisomie 3pter Trisomie 3pter Trisomy 3pter Trisomía 3pter Distal trisomy 3p Trisomia 3p distale Trisomie 3p, distale Trisomie distale 3p Trisomía terminal 3p Trissomia distal 3p hrdo:pat_id_12696 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=((Trisomy%5Bti%5D+OR+duplication%5Bti%5D+OR+(chromosome+4+trisomy))+4p*%5Bti%5D)+(distal+OR+telomer*+OR+subterminal+OR+pter+OR+4pter) Q92.3 96072 malformation syndrome Distal duplication 4p Duplicación distal 4p Duplicación intersticial 4p Duplicación telomérica 4p Duplicación terminal 4p Duplication distale 4p Duplication télomérique 4p Duplicazione 4p distale Duplicazione 4p telomerica Duplikation 4p, distale Telomeric duplication 4p Trisomia 4pter Trisomie 4pter Trisomie 4pter Trisomy 4pter Trisomía 4pter Distal trisomy 4p Trisomia 4p distale Trisomie 4p, distale Trisomie distale 4p Trisomía terminal 4p Trissomia distal 4p hrdo:pat_id_12698 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=((Trisomy%5Bti%5D+OR+duplication%5Bti%5D+OR+(chromosome+7+trisomy))+7p*%5Bti%5D)+(distal+OR+telomer*+OR+subterminal+OR+pter+OR+7pter) Q92.3 96074 malformation syndrome Distal duplication 7p Duplicación distal 7p Duplicación intersticial 7p Duplicación telomérica 7p Duplicación terminal 7p Duplication distale 7p Duplication télomérique 7p Duplicazione 7p distale Duplicazione 7p telomerica Duplikation 7p, distale Telomeric duplication 7p Trisomia 7pter Trisomie 7pter Trisomie 7pter Trisomy 7pter Trisomía 7pter Distal trisomy 7p Trisomia 7p distale Trisomie 7p, distale Trisomie distale 7p Trisomía terminal 7p Trissomia distal 7p hrdo:pat_id_1270 170700 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&details_term=peripheral+Dysostosis%5Btw%5D Q74.8 1795 malformation syndrome Disostose periférica Disostosi periferica Disostosis periférica Dysostose périphérique Dysostose, periphere Peripheral dysostosis hrdo:pat_id_12700 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=((Trisomy%5Bti%5D+OR+duplication%5Bti%5D+OR+(chromosome+11+trisomy))+11p*%5Bti%5D)+(distal+OR+telomer*+OR+subterminal+OR+pter+OR+11pter) Q87.3 96076 etiological subtype Duplikation 11p15, distale Beckwith-Wiedemann syndrome due to 11p15 microduplication Beckwith-Wiedemann-Syndrom durch Mikroduplikation 11p15 Sindrome di Beckwith-Wiedemann da microduplicazione 11p15 Syndrome de Beckwith-Wiedemann dû à une microduplication 11p15 Síndrome de Beckwith-Wiedemann por microduplicación 11p15 Trissomia distal 11p15 hrdo:pat_id_12702 613458 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=((Trisomy%5Bti%5D+OR+duplication%5Bti%5D+OR+(chromosome+16+trisomy))+16p*%5Bti%5D)+(distal+OR+telomer*+OR+subterminal+OR+pter+OR+16pter) Q92.3 96078 malformation syndrome Distal duplication 16p Distal trisomy 16p Dup(16)(p13.3) Dup(16)(p13.3) Duplicación distal 16p Duplicación intersticial 16p Duplicación telomérica 16p Duplicación terminal 16p Duplication distale 16p Duplication télomérique 16p Duplicazione 16p distale Duplicazione 16p telomerica Duplikation 16p, distale Telomeric duplication 16p Trisomia 16pter Trisomie 16pter Trisomie 16pter Trisomie distale 16p Trisomy 16pter Trisomía 16pter 16p13.3 microduplication syndrome Syndrome de microduplication 16p13.3 Trisomia 16p distale Trisomie 16p, distale Trisomía terminal 16p Trissomia distal 16p hrdo:pat_id_12716 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(inv+dup%5Bti%5D+OR+(duplicat*%5Bti%5D+(inverted%5Bti%5D+OR+inversion%5Bti%5D)))+(8p*%5Bti%5D+OR+(short+arm%5Bti%5D+chromosome+8)) Q99.8 96092 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Invdupdel(8p) Invdupdel(8p) Invdupdel(8p) Inverted 8p duplication/deletion syndrome Síndrome de duplicación/deleción 8p invertida 8p inverted duplication/deletion syndrome Duplicazione/delezione invertita 8p Duplicação invertida/deleção de 8p Invertierte Duplikation/Deletion 8p Syndrome de duplication/délétion inversée 8p Síndrome de duplicación/deleción invertida 8p hrdo:pat_id_12718 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Trisomy+OR+duplication%5Bti%5D)+(2q*%5Bti%5D+OR+(chromosome+2+(long+arm%5Bti%5D)))+(distal+OR+telomer*+OR+qter+OR+terminal) Q92.3 96094 malformation syndrome Distal duplication 2q Duplicación distal 2q Duplicación intersticial 2q Duplicación telomérica 2q Duplicación terminal 2q Duplication distale 2q Duplication télomérique 2q Duplicazione 2q distale Duplicazione 2q telomerica Duplikation 2q, distale Telomeric duplication 2q Trisomia 2qter Trisomie 2qter Trisomie 2qter Trisomy 2qter Trisomía 2qter Distal trisomy 2q Trisomia 2q distale Trisomie 2q, distale Trisomie distale 2q Trisomía terminal 2q Trissomia distal 2q hrdo:pat_id_12719 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Trisomy+OR+duplication%5Bti%5D)+(3q*%5Bti%5D+OR+(chromosome+3+(long+arm%5Bti%5D)))+(distal+OR+telomer*+OR+qter+OR+subtelomer*) Q92.3 96095 malformation syndrome Cornelia de Lange-like syndrome Cornelia de Lange-ähnliches Syndrom Dup(3)(q26) Dup(3)(q26) Dup(3)(q26) Dup(3)(q26) Dup(3)(q26) Sindrome simil Cornelia de Lange Syndrome Cornelia de Lange-like Síndrome tipo Cornelia de Lange Trisomia 3q26 Trisomie 3q26 Trisomie 3q26 Trisomy 3q26 Trisomía 3q26 Trisomía 3qter 3q26 microduplication syndrome Mikroduplikationssyndrom 3q26 Sindrome da microduplicazione 3q26 Syndrome de microduplication 3q26 Síndrome de microduplicación 3q26 Trissomia distal 3q hrdo:pat_id_1272 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 193530 C536695 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Acrofacial+dysostosis%5Btw%5D+OR+craniofacial+dysostosis%5Bmh%5D%29+AND+%28weyers%5Btw%5D+OR+curry+hall%5Btw%5D%29 Q75.4 952 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Curry-Hall syndrome Curry-Hall, síndrome de Curry-Hall-Syndrom Disostose acrofacial de Weyers Disostosi acrodentale di Weyers Disostosi acrofacciale di Weyers Disostosis acrodental de Weyer Disostosis acrofacial de Weyer Dysostose acrodentale de Weyers Dysostose acrofaciale de Weyers Sindrome di Curry-Hall Síndrome de Curry-Hall Síndrome de Curry-Hall Weyer-Dysostose, akrodentale Weyers acrodental dysostosis Weyers acrofacial dysostosis Acrofacial dysostosis, Weyers type Disostose acrofacial, tipo Weyers Disostosi acrofacciale, tipo Weyers Disostosis acrofacial, tipo Weyer Dysostose acrofaciale type Weyers Dysostose, akrofaziale, Typ Weyers hrdo:pat_id_12720 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Trisomy+OR+duplication%5Bti%5D)+(4q*%5Bti%5D+OR+(chromosome+4+(long+arm%5Bti%5D)))+(distal+OR+telomer*+OR+qter+OR+terminal) Q92.3 96096 malformation syndrome Distal duplication 4q Duplicación distal 4q Duplicación intersticial 4q Duplicación telomérica 4q Duplicación terminal 4q Duplication distale 4q Duplication télomérique 4q Duplicazione 4q distale Duplicazione 4q telomerica Duplikation 4q, distale Telomeric duplication 4q Trisomia 4qter Trisomie 4qter Trisomie 4qter Trisomy 4qter Trisomía 4qter Distal trisomy 4q Trisomia 4q distale Trisomie 4q, distale Trisomie distale 4q Trisomía terminal 4q Trissomia distal 4q hrdo:pat_id_12721 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Trisomy+OR+duplication%5Bti%5D)+(5q*%5Bti%5D+OR+(chromosome+5+(long+arm%5Bti%5D)))+(distal+OR+telomer*+OR+qter+OR+terminal) Q92.3 96097 malformation syndrome Distal duplication 5q Duplicación distal 5q Duplicación intersticial 5q Duplicación telomérica 5q Duplicación terminal 5q Duplication distale 5q Duplication télomérique 5q Duplicazione 5q distale Duplicazione 5q telomerica Duplikation 5q, distale Telomeric duplication 5q Trisomia 5qter Trisomie 5qter Trisomie 5qter Trisomy 5qter Trisomía 5qter Distal trisomy 5q Trisomia 5q distale Trisomie 5q, distale Trisomie distale 5q Trisomía terminal 5q Trissomia distal 5q hrdo:pat_id_12722 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Trisomy+OR+duplication%5Bti%5D)+(6q*%5Bti%5D+OR+(chromosome+6+(long+arm%5Bti%5D)))+(distal+OR+telomer*+OR+qter+OR+terminal) Q92.3 96098 malformation syndrome Distal duplication 6q Duplicación distal 6q Duplicación intersticial 6q Duplicación telomérica 6q Duplicación terminal 6q Duplication distale 6q Duplication télomérique 6q Duplicazione 6q distale Duplicazione 6q telomerica Duplikation 6q, distale Telomeric duplication 6q Trisomia 6qter Trisomie 6qter Trisomie 6qter Trisomy 6qter Trisomía 6qter Distal trisomy 6q Trisomia 6q distale Trisomie 6q, distale Trisomie distale 6q Trisomía terminal 6q Trissomia distal 6q hrdo:pat_id_12724 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Trisomy+OR+duplication%5Bti%5D)+(8q*%5Bti%5D+OR+(chromosome+8+(long+arm%5Bti%5D)))+(distal+OR+telomer*+OR+qter+OR+terminal) Q92.3 96100 malformation syndrome Distal duplication 8q Duplicación distal 8q Duplicación intersticial 8q Duplicación telomérica 8q Duplicación terminal 8q Duplication distale 8q Duplication télomérique 8q Duplicazione 8q distale Duplicazione 8q telomerica Duplikation 8q, distale Telomeric duplication 8q Trisomia 8qter Trisomie 8qter Trisomie 8qter Trisomy 8qter Trisomía 8qter Distal trisomy 8q Trisomia 8q distale Trisomie 8q, distale Trisomie distale 8q Trisomía terminal 8q Trissomia distal 8q hrdo:pat_id_12725 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Trisomy+OR+duplication%5Bti%5D)+(9q*%5Bti%5D+OR+(chromosome+9+(long+arm%5Bti%5D)))+(distal+OR+telomer*+OR+qter+OR+terminal) Q92.3 96101 malformation syndrome Distal duplication 9q Duplicación distal 9q Duplicación intersticial 9q Duplicación telomérica 9q Duplicación terminal 9q Duplication distale 9q Duplication télomérique 9q Duplicazione 9q distale Duplicazione 9q telomerica Duplikation 9q, distale Telomeric duplication 9q Trisomia 9qter Trisomie 9qter Trisomie 9qter Trisomy 9qter Trisomía 9qter Distal trisomy 9q Trisomia 9q distale Trisomie 9q, distale Trisomie distale 9q Trisomía terminal 9q Trissomia distal 9q hrdo:pat_id_12726 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance C538087 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Trisomy+OR+duplication%5Bti%5D)+(10q*%5Bti%5D+OR+(chromosome+10+(long+arm%5Bti%5D)))+(distal+OR+telomer*+OR+qter+OR+terminal) Q92.3 96102 C2931728 C2931731 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Distal duplication 10q Duplicación distal 10q Duplicación intersticial 10q Duplicación telomérica 10q Duplicación terminal 10q Duplication distale 10q Duplication télomérique 10q Duplicazione 10q distale Duplicazione 10q telomerica Duplikation 10q, distale Telomeric duplication 10q Trisomia 10qter Trisomie 10qter Trisomie 10qter Trisomy 10qter Trisomía 10qter Distal trisomy 10q Trisomia 10q distale Trisomie 10q, distale Trisomie distale 10q Trisomía terminal 10q Trissomia distal 10q hrdo:pat_id_12727 C538294 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Trisomy+OR+duplication%5Bti%5D)+(11q*%5Bti%5D+OR+(chromosome+11+(long+arm%5Bti%5D)))+(distal+OR+telomer*+OR+qter+OR+terminal) Q92.3 96103 C2931797 malformation syndrome Distal duplication 11q Duplicación distal 11q Duplicación intersticial 11q Duplicación telomérica 11q Duplicación terminal 11q Duplication distale 11q Duplication télomérique 11q Duplicazione 11q distale Duplicazione 11q telomerica Duplikation 11q, distale Telomeric duplication 11q Trisomia 11qter Trisomie 11qter Trisomie 11qter Trisomy 11qter Trisomía 11qter Distal trisomy 11q Trisomia 11q distale Trisomie 11q, distale Trisomie distale 11q Trisomía terminal 11q Trissomia distal 11q hrdo:pat_id_12729 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Trisomy+OR+duplication%5Bti%5D)+(13q*%5Bti%5D+OR+(chromosome+13+(long+arm%5Bti%5D)))+(distal+OR+telomer*+OR+qter+OR+terminal) Q92.3 96105 malformation syndrome Distal duplication 13q Duplicación distal 13q Duplicación intersticial 13q Duplicación telomérica 13q Duplicación terminal 13q Duplication distale 13q Duplication télomérique 13q Duplicazione 13q distale Duplicazione 13q telomerica Duplikation 13q, distale Telomeric duplication 13q Trisomia 13qter Trisomie 13qter Trisomie 13qter Trisomy 13qter Trisomía 13qter Distal trisomy 13q Trisomia 13q distale Trisomie 13q, distale Trisomie distale 13q Trisomía terminal 13q Trissomia distal 13q hrdo:pat_id_12730 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Trisomy+OR+duplication%5Bti%5D)+(16q*%5Bti%5D+OR+(chromosome+16+(long+arm%5Bti%5D)))+(distal+OR+telomer*+OR+qter+OR+terminal) Q92.3 96106 malformation syndrome Distal duplication 16q Duplicación distal 16q Duplicación intersticial 16q Duplicación telomérica 16q Duplicación terminal 16q Duplication distale 16q Duplication télomérique 16q Duplicazione 16q distale Duplicazione 16q telomerica Duplikation 16q, distale Telomeric duplication 16q Trisomia 16qter Trisomie 16qter Trisomie 16qter Trisomy 16qter Trisomía 16qter Distal trisomy 16q Trisomia 16q distale Trisomie 16q, distale Trisomie distale 16q Trisomía terminal 16q Trissomia distal 16q hrdo:pat_id_12731 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Trisomy+OR+duplication%5Bti%5D)+(20q*%5Bti%5D+OR+(chromosome+20+(long+arm%5Bti%5D)))+(distal+OR+telomer*+OR+qter+OR+terminal+OR+subtelomer*) Q92.3 96107 malformation syndrome Distal duplication 20q Duplicación distal 20q Duplicación intersticial 20q Duplicación telomérica 20q Duplicación terminal 20q Duplication distale 20q Duplication télomérique 20q Duplicazione 20q distale Duplicazione 20q telomerica Duplikation 20q, distale Telomeric duplication 20q Trisomia 20qter Trisomie 20qter Trisomie 20qter Trisomy 20qter Trisomía 20qter Distal trisomy 20q Trisomia 20q distale Trisomie 20q, distale Trisomie distale 20q Trisomía terminal 20q Trissomia distal 20q hrdo:pat_id_12733 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Trisomy+OR+duplication%5Bti%5D)+(22q*%5Bti%5D+OR+(chromosome+22+(long+arm%5Bti%5D)))+(distal+OR+telomer*+OR+qter+OR+terminal+OR+subtelomer*) Q92.3 96109 malformation syndrome Distal duplication 22q Duplicación distal 22q Duplicación intersticial 22q Duplicación telomérica 22q Duplicación terminal 22q Duplication distale 22q Duplication télomérique 22q Duplicazione 22q distale Duplicazione 22q telomerica Duplikation 22q, distale Telomeric duplication 22q Trisomia 22qter Trisomie 22qter Trisomie 22qter Trisomy 22qter Trisomía 22qter Distal trisomy 22q Trisomia 22q distale Trisomie 22q, distale Trisomie distale 22q Trisomía terminal 22q Trissomia distal 22q hrdo:pat_id_12736 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Trisomy+OR+duplication%5Bti%5D)+(9q*%5Bti%5D+OR+(chromosome+9+(long+arm%5Bti%5D)))+NOT+(mosaic*+OR+distal+OR+telomer*+OR+qter+OR+terminal) Q92.3 96112 malformation syndrome Duplicación no distal 9q Duplicación no terminal 9q Duplication non distale 9q Duplicazione 9q non distale Duplikation 9q, nicht-distale Non-distal duplication 9q Non-telomeric trisomy 9q Trisomia 9q non telomerica Trisomie non télomérique 9q Trisomía no intersticial 9q Trisomía no telomérica 9q Non-distal trisomy 9q Trisomia 9q non distale Trisomie 9q, nicht-distale Trisomie non distale 9q Trisomía intersticial 9q Trissomia não-distal 9q hrdo:pat_id_1274 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&details_term=%28Acromesomelic%5Bti%5D+OR+Acro+mesomelic%5Bti%5D%29+brahimi Q77.8 953 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acromesomelic dysplasia, Brahimi-Bacha type Displasia acromesomelica, tipo Brahimi-Bacha Displasia acromesomélica tipo Brahimi Bacha Displasia acromesomélica, tipo Brahimi-Bacha Dysplasie acromésomélique type Brahimi-Bacha Dysplasie, akromesomele, Typ Brahimi-Bacha hrdo:pat_id_12745 609757 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Trisomy+OR+duplication%5Bti%5D)+(7q11%5Bti%5D+OR+(7q11%5Btw%5D+chromosome+7)) Q92.3 96121 malformation syndrome Dup(7)(q11.23) Dup(7)(q11.23) Dup(7)(q11.23) Dup(7)(q11.23) Dup(7)(q11.23) Monosome 7q11.23 Monosomia 7q11.23 Monosomía 7q11.23 Trisomie 7q11.23 Trisomy 7q11.23 7q11.23 microduplication syndrome Mikroduplikationssyndrom 7q11.23 Sindrome da microduplicazione 7q11.23 Syndrome de microduplication 7q11.23 Síndrome de microduplicación 7q11.23 Trissomia 7q11 hrdo:pat_id_12747 neant Q93.0 96123 malformation syndrome Monosomia 22 Monosomie 22 Monosomie 22 Monosomy 22 Monosomía 22 Monossomia 22 hrdo:pat_id_12749 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 612582 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=((short+arm%5Bti%5D+chromosome+6+OR+6p*%5Bti%5D)+(deletion%5Bti%5D+OR+monosomy+OR+loss%5Bti%5D))+(distal+OR+telomer*+OR+terminal+OR+pter) Q93.5 96125 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 6p subtelomere deletion syndrome 6p25 microdeletion syndrome Deleción distal 6p Deletion 6p, distale Delezione 6p distale Distal deletion 6p Délétion distale 6p Monosomia 6p25 Monosomie 6p25 Monosomie 6pter Monosomy 6p25 Monosomía 6p25 Sindrome da delezione subtelomerica 6p Sindrome da microdelezione 6p25 Syndrome de délétion subtélomérique 6p Syndrome de microdélétion 6p25 Síndrome de deleción subtelomérica 6p Síndrome de microdeleción 6p25 Distal monosomy 6p Monosomia 6p distale Monosomie 6p, distale Monosomie distale 6p Monosomía distal 6p Monossomia distal 6p hrdo:pat_id_12750 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=((short+arm%5Bti%5D+chromosome+7+OR+7p*%5Bti%5D)+(deletion%5Bti%5D+OR+monosomy+OR+loss%5Bti%5D))+(distal+OR+telomer*+OR+terminal+OR+pter) Q93.5 96126 malformation syndrome Deleción distal 7p Deleción intersticial 7p Deleción telomérica 7p Deleción terminal 7p Deletion 7p, distale Delezione 7p distale Delezione 7p telomerica Distal deletion 7p Délétion distale 7p Délétion télomérique 7p Monosomia 7pter Monosomie 7pter Monosomy 7pter Monosomía 7pter Telomeric deletion 7p Distal monosomy 7p Monosomia 7p distale Monosomie 7p, distale Monosomie distale 7p Monosomía terminal 7p Monossomia distal 7p hrdo:pat_id_12753 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=((short+arm%5Bti%5D+chromosome+19+OR+19p13*%5Bti%5D)+(deletion%5Bti%5D+OR+monosomy+OR+loss%5Bti%5D))+(distal+OR+telomer*+OR+terminal+OR+pter) Q93.5 96129 malformation syndrome Deleción distal 19p Deleción intersticial 19p Deleción telomérica 19p Deleción terminal 19p Deletion 19p, distale Delezione 19p distale Delezione 19p telomerica Distal deletion 19p Délétion distale 19p Délétion télomérique 19p Telomeric deletion 19p Distal monosomy 19p13.3 Monosomia 19p13.3 distale Monosomie 19p13.3, distale Monosomie distale 19p13.3 Monosomía terminal 19p13.3 Monossomia distal 19p13.3 hrdo:pat_id_1276 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 102400 102500 C531695 C535663 D031845 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Acroosteolysis%5Bti%5D+OR+Acro+osteolysis%5Bmajr%5D+OR+Acro+osteolysis%5Bti%5D+OR+Hajdu+Cheney%5Bti%5D M89.5 955 63122002 C0917715 C2930971 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acro-dento-osteo-displasia Acro-dento-osteo-dysplasia Acro-dento-ostéodysplasie Acrostéolyse autosomique dominante Akroosteolyse, familiäre idiopathische Displasia acro-dento-esquelética Displasia acro-dento-ossea Dysplasie acro-dento-osseuse Hajdu-Cheney syndrome Hajdu-Cheney, síndrome de Hajdu-Cheney-Syndrom Sindrome di Hajdu-Cheney Syndrome de Hajdu-Cheney Síndrome de Hajdu-Cheney Síndrome de Hajdu-Cheney Acro-ostéolyse autosomique dominante Acroosteolisi, tipo autosomico dominante Acroosteolisis tipo dominante Acroosteolysis dominant type Acrosteólise, tipo dominante Akroosteolyse, autosomal-dominante hrdo:pat_id_12760 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(deletion%5Bti%5D+OR+monosomy+OR+loss%5Bti%5D)+7p*%5Bti%5D+NOT+(distal+OR+terminal+OR+pter+OR+subterminal) Q93.5 96136 malformation syndrome Deleción no distal 7p Deleción no terminal 7p Deletion 7p, nicht-distale Delezione 7p non distale Délétion non distale 7p Monosomia 7p non telomerica Monosomie non télomérique 7p Monosomía no intersticial 7p Monosomía no telomérica 7p Non-distal deletion 7p Non-telomeric monosomy 7p Monosomia 7p non distale Monosomie 7p, nicht-distale Monosomie non distale 7p Monosomía intersticial 7p Monossomia não-distal 7p Non-distal monosomy 7p hrdo:pat_id_12769 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(del%5Bti%5D+OR+deletion*%5Bti%5D+OR+loss%5Bti%5D)+(4q*%5Bti%5D+chromosome+4)+(4qter+OR+qter%5Btw%5D+OR+distal+OR+terminal+OR+subtelomer*) Q93.5 96145 malformation syndrome Deleción distal 4q Deleción intersticial 4q Deleción telomérica 4q Deleción terminal 4q Deletion 4q, distale Delezione 4q distale Delezione 4q telomerica Distal deletion 4q Délétion distale 4q Délétion télomérique 4q Monosomia 4qter Monosomie 4qter Monosomie 4qter Monosomy 4qter Monosomía 4qter Telomeric deletion 4q Distal monosomy 4q Monosomia 4q distale Monosomie 4q, distale Monosomie distale 4q Monosomía terminal 4q Monossomia distal 4q hrdo:pat_id_1277 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%28Acro+OR+acral%29+AND+pector*+AND+renal%29+OR+%28%28Kidney+Diseases+OR+Urogenital+Diseases%29+AND+Pectoralis+Muscles/ab%29 Q87.8 956 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acro-pectoro-renal dysplasia Akro-pektoro-renale Dysplasie Defeito de campo acro-pecto-renal Displasia acro-pectoro-renal Displasia acro-toraco-renale Dysplasie acro-pectoro-rénale hrdo:pat_id_12771 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(del%5Bti%5D+OR+deletion*%5Bti%5D+OR+loss%5Bti%5D)+9q34%5Bti%5D Q87.0 96147 etiological subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 9q subtelomeric deletion syndrome 9qSTDS 9qSTDS 9qSTDS 9qSTDS Kleefstra syndrome due to 9q subtelomeric deletion Kleefstra syndrome due to del(9)(q34) Kleefstra syndrome due to monosomy 9q34 Kleefstra-Syndrom durch Mikrodeletion 9q34 Kleefstra-Syndrom durch del(9)(q34) Kleefstra-Syndrom durch subtelomere Deletion 9q Sindrome da delezione subtelomerica 9q Sindrome di Kleefstra da del(9)(q34) Sindrome di Kleefstra da delezione subtelomerica 9q Sindrome di Kleefstra da monosomia 9q34 Subtelomes Deletionssyndrom 9q Syndrome de Kleefstra dû à une del(9)(q34) Syndrome de Kleefstra dû à une deletion subtélomérique 9q Syndrome de Kleefstra dû à une monosomie 9q34 Síndrome de Kleefstra por del(9)(q34) Síndrome de Kleefstra por la deleción subtelomérica 9q Síndrome de Kleefstra por la monosomía 9q34 Síndrome de deleción subtelomérica 9q Kleefstra syndrome due to 9q34 microdeletion Kleefstra-Syndrom durch Monosomie 9q34 Monossomia distal 9q34 Sindrome di Kleefstra da microdelezione 9q34 Syndrome de Kleefstra dû à une microdélétion 9q34 Síndrome de Kleefstra por la microdeleción 9q34 hrdo:pat_id_12772 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 609625 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(del%5Bti%5D+OR+deletion%5Bti%5D+OR+loss%5Bti%5D)+10q*%5Bti%5D+(10q26%5Bti%5D+OR+10qter+OR+qter%5Btw%5D+OR+distal+OR+terminal+OR+telomer*) Q93.5 96148 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deletion 10q, distale Delezione 10q distale Delezione 10q telomerica Distal deletion 10q Délétion distale 10q Délétion télomérique 10q Monosomia 10qter Monosomie 10qter Monosomie 10qter Monosomy 10qter Telomeric deletion 10q Distal monosomy 10q Monosomia 10q distale Monosomie 10q, distale Monosomie distale 10q Monosomía distal 10q Monossomia distal 10q hrdo:pat_id_12773 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(del%5Bti%5D+OR+deletion%5Bti%5D+OR+loss%5Bti%5D)+(12q*%5Bti%5D)+(12q24%5Bti%5D+OR+12qter+OR+qter%5Btw%5D+OR+distal+OR+terminal+OR+telomer*) Q93.5 96149 malformation syndrome Deleción distal 12q Deleción intersticial 12q Deleción telomérica 12q Deleción terminal 12q Deletion 12q, distale Delezione 12q distale Delezione 12q telomerica Distal deletion 12q Délétion distale 12q Délétion télomérique 12q Monosomia 12qter Monosomie 12qter Monosomie 12qter Monosomy 12qter Monosomía 12qter Telomeric deletion 12q Distal monosomy 12q Monosomia 12q distale Monosomie 12q, distale Monosomie distale 12q Monosomía terminal 12q Monossomia distal 12q hrdo:pat_id_12774 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(del%5Bti%5D+OR+deletion%5Bti%5D+OR+loss%5Bti%5D)+(14q*%5Bti%5D)+(14q32%5Bti%5D+OR+14qter+OR+qter%5Btw%5D+OR+distal+OR+terminal+OR+telomer*) Q93.5 96150 malformation syndrome Deleción distal 14q Deleción telomérica 14q Deletion 14q, distale Delezione 14q distale Delezione 14q telomerica Distal deletion 14q Délétion distale 14q Délétion télomérique 14q Monosomie 14qter Telomeric deletion 14q Distal monosomy 14q Monosomia 14q distale Monosomie 14q, distale Monosomie distale 14q Monosomía distal 14q Monossomia distal 14q hrdo:pat_id_12776 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(del%5Bti%5D+OR+deletion%5Bti%5D+OR+loss%5Bti%5D)+(20q13%5Bti%5D)+(20qter+OR+qter%5Btw%5D+OR+distal+OR+terminal+OR+telomer*) Q93.5 96152 malformation syndrome Deleción distal 20q Deleción intersticial 20q Deleción telomérica 20q Deleción terminal 20q Deletion 20q, distale Delezione 20q distale Delezione 20q telomerica Distal deletion 20q Délétion distale 20p Délétion télomérique 20q Monosomia 20qter Monosomie 20qter Monosomie 20qter Monosomy 20qter Monosomía 20qter Telomeric deletion 20q Distal monosomy 20q Monosomia 20q distale Monosomie 20q, distale Monosomie distale 20q Monosomía terminal 20q Monossomia distal 20q hrdo:pat_id_1278 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 102510 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=F+syndrome%5Bti%5D+OR+acropectorovertebral+OR+acro+pectoro+vertebral%5Btw%5D+OR+%28acropectoral%5Btw%5D+AND+vertebral%5Btw%5D%29 Q68.1 Q78.8 957 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Disgenesia acro-toraco-vertebrale Disgenesia acropectovertebral Dysgénésie acro-pectoro-vertébrale F syndrome F-Syndrom Sindrome F Syndrome F Síndrome F Acropectorovertebral dysplasia Displasia acro-pecto-vertebral Displasia acro-toraco-vertebrale Displasia acropectovertebral Dysplasie acro-pectoro-vertébrale Dysplasie, akro-pectoro-vertebrale hrdo:pat_id_12784 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(del%5Bti%5D+OR+deletion%5Bti%5D+OR+loss%5Bti%5D)+(12q*%5Bti%5D+chromosome+12)+NOT+(12q24%5Bti%5D+OR+12qter) Q93.5 96160 malformation syndrome Deleción no distal 12q Deleción no terminal 12q Deletion 12q, nicht-distale Delezione 12q non distale Délétion non distale 12q Monosomia 12q non telomerica Monosomie non télomérique 12q Monosomía no intersticial 12q Monosomía no telomérica 12q Non-distal deletion 12q Non-telomeric monosomy 12q Monosomia 12q non distale Monosomie 12q, nicht-distale Monosomie non distale 12q Monosomía intersticial 12q Monossomia não-distal 12q Non-distal monosomy 12q hrdo:pat_id_12788 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(del%5Bti%5D+OR+deletion%5Bti%5D+OR+loss%5Bti%5D)+(20q*%5Bti%5D+chromosome+20)+NOT+(%2220q13.33%22+OR+20qter+OR+qter) Q93.5 96164 malformation syndrome Deleción no distal 20q Deleción no terminal 20q Deletion 20q, nicht-distale Delezione 20q non distale Délétion non distale 20q Monosomia 20q non telomerica Monosomie non télomérique 20q Monosomía no intersticial 20q Monosomía no telomérica 20q Non-distal deletion 20q Non-telomeric monosomy 20q Monosomia 20q non distale Monosomie 20q, nicht-distale Monosomie non distale 20q Monosomía intersticial 20q Monossomia não-distal 20q Non-distal monosomy 20q hrdo:pat_id_1279 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 200980 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Acro+AND+%28renal+OR+kidney/ab%29+AND+%28mandibular+OR+mandible%29 Q87.8 958 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Ectrodactilia de mão e pés - hipoplasia mandibular Main et pied fendus - hypoplasie mandibulaire Schisi delle mani e dei piedi - ipoplasia mandibolare Spalthand/Spaltfuß - Hypoplasie, mandibuläre Split hand/split foot - mandibular hypoplasia Acro-renal-mandibular syndrome Akro-reno-mandibuläres Syndrom Sindrome acro-reno-mandibolare Syndrome acro-réno-mandibulaire Síndrome acro-reno-mandibular Síndrome acrorenomandibular hrdo:pat_id_12791 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 179613 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(San+Luis+Valley%5Btw%5D+OR+%22Rec8%22+OR+(recombinant%5Bti%5D+8%5Bti%5D))+chromosome+8 Q99.8 96167 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Duplication 8q/deletion 8p Duplication 8q/délétion 8p Duplicazione 8q/delezione 8p Duplikation 8q/Deletion 8p Rec(8) syndrome Rec8 syndrome Recombinant chromosome 8 syndrome San Luis Valley syndrome Sindrome Rec(8) Sindrome di San Luis Valley Syndrome Rec8 Syndrome de San Luis Valley Recombinant 8 syndrome San Luis Valley-Syndrom Sindrome del cromosoma 8 ricombinante Syndrome du chromosome 8 recombinant Síndrome de San Luis Valley Síndrome del cromosoma 8 recombinante hrdo:pat_id_12792 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(del%5Bti%5D+OR+deletion%5Bti%5D+OR+loss%5Bti%5D)+(13q34%5Bti%5D+OR+(chromosome+13+(distal%5Bti%5D+OR+terminal%5Bti%5D+OR+telomer*%5Bti%5D))) Q93.5 96168 malformation syndrome Del(13)(q34) Del(13)(q34) Del(13)(q34) Del(13)(q34) Del(13)(q34) Deleción distal 13q34 Deleción subtelomérica 13q34 Deletion 13q34, distale Delezione 13q34 distale Delezione 13q34 subtelomerica Distal deletion 13q34 Délétion distale 13q34 Délétion subtélomérique 13q34 Subtelomere Deletion 13q34 Subtelomeric deletion 13q34 Monosomia 13q34 Monosomie 13q34 Monosomie 13q34 Monosomy 13q34 Monosomía 13q34 Monossomia 13q34 hrdo:pat_id_12793 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 610443 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(microdel*%5Bti%5D+OR+deletion%5Bti%5D)+(%2217q21.31%22+OR+%2217q21.3%22)+OR+(microdeletions+%2217q21.31%22) Q93.5 96169 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Del(17)(q21.31) Del(17)(q21.31) Del(17)(q21.31) Del(17)(q21.31) Del(17)(q21.31) KdVS KdVS Koolen-De Vries syndrome Monosomia 17q21.31 Monosomie 17q21.31 Monosomy 17q21.31 Monosomy 17q21.31 Monosomía 17q21.31 Syndrome de Koolen-De Vries 17q21.31 microdeletion syndrome Mikrodeletionssyndrom 17q21.31 Monossomia 17q21.31 Sindrome da microdelezione 17q21.31 Syndrome de microdélétion 17q21.31 Síndrome de microdeleción 17q21.31 hrdo:pat_id_12794 609029 C535733 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=(((22%5Bti%5D+11%5Bti%5D+OR+11q+22q+OR+11%3B22%5Bti%5D)+translocation)+OR+%22der(22)t(11%3B22)%22)+(supernumer*+OR+trisomy)+OR+%22Supernumerary+der(22)%22 Q92.6 96170 C1836929 malformation syndrome Chromosome supernuméraire der(22) Sindrome del cromosoma der (22) t (11;22) Sindrome del cromosoma der(22) sovrannumerario Sindrome di der(22)t(11;22) Supernumerary der(22) syndrome Supernumerary der(22)-Syndrom Síndrome del der(22) supernumerario Síndrome der(22) supernumerario Síndrome der(22)t(11;22) der(22)t(11;22) syndrome der(22)t(11;22)-Syndrom Emanuel syndrome Emanuel-Syndrom Sindrome di Emanuel Syndrome Emanuel Síndrome de Emanuel Síndrome de Emanuel hrdo:pat_id_12795 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Chromosome+2%5Bmh%5D+ring+chromosomes%5Bmh%5D)+OR+ring+chromosome+2%5Btw%5D+OR+ring+2+chromosome%5Btw%5D Q93.2 96171 malformation syndrome Chromosome 2 en anneau Cromosoma 2 ad anello Cromosoma en anillo 2 Cromossoma 2 em anel Ring chromosome 2 Ringchromosom 2 hrdo:pat_id_12796 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Chromosome+3%5Bmh%5D+ring+chromosomes%5Bmh%5D)+OR+ring+chromosome+3%5Btw%5D+OR+ring+3+chromosome%5Btw%5D Q93.2 96172 malformation syndrome Chromosome 3 en anneau Cromosoma 3 ad anello Cromosoma en anillo 3 Cromossoma 3 em anel Ring chromosome 3 Ringchromosom 3 hrdo:pat_id_12797 C538022 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=((Chromosome+9%5Bmh%5D+ring+chromosomes%5Bmh%5D)+OR+ring+chromosome+9%5Btw%5D)+NOT+mosaic* Q93.2 96173 60650002 C0265430 C2931693 malformation syndrome Chromosome 9 en anneau Cromosoma 9 ad anello Cromosoma en anillo 9 Cromossoma 9 em anel Ring chromosome 9 Ringchromosom 9 hrdo:pat_id_12799 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Chromosome+11%5Bmh%5D+ring+chromosomes%5Bmh%5D)+OR+ring+chromosome+11%5Btw%5D+OR+ring+11+chromosome%5Btw%5D Q93.2 96175 111310003 C0265444 malformation syndrome Chromosome 11 en anneau Cromosoma 11 ad anello Cromosoma en anillo 11 Cromossoma 11 em anel Ring chromosome 11 Ringchromosom 11 hrdo:pat_id_1280 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 607323 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&term=acro+renal+ocu*%5Btw%5D+OR+acro+reno+ocu*%5Btw%5D+OR+%28okihiro+syndrome+%28Radial+ray%5Btw%5D+OR+Upper+Limb+Deformities%2C+Congenital%29%29 Q87.8 959 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acro-renal-ocular syndrome Akro-reno-okuläres Syndrom Sindrome acro-reno-oculare Syndrome acro-réno-oculaire Síndrome acro-reno-ocular Síndrome acro-reno-ocular hrdo:pat_id_12800 C538303 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=ring+chromosome+13%5Btw%5D+OR+ring+13+chromosome%5Btw%5D Q93.2 96176 C2931808 malformation syndrome Chromosome 13 en anneau Cromosoma 13 ad anello Cromosoma en anillo 13 Cromossoma 13 em anel Ring chromosome 13 Ringchromosom 13 hrdo:pat_id_12801 C538035 neant Q93.2 96177 C2931703 malformation syndrome Chromosome 15 en anneau Cromosoma 15 ad anello Cromosoma en anillo 15 Cromossoma 15 em anel Ring chromosome 15 Ringchromosom 15 hrdo:pat_id_12802 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Chromosome+16%5Bmh%5D+ring+chromosomes%5Bmh%5D)+OR+ring+chromosome+16%5Btw%5D Q93.2 96178 malformation syndrome Chromosome 16 en anneau Cromosoma 16 ad anello Cromosoma en anillo 16 Cromossoma 16 em anel Ring chromosome 16 Ringchromosom 16 hrdo:pat_id_12803 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=uniparental+disomy+(pair+2%5Btw%5D+OR+chromosome+2%5Btw%5D)+(Mothers+OR+maternal*) Q99.8 96179 malformation syndrome UPD(2)mat UPD(2)mat UPDM 2 UPDM 2 Disomia uniparentale materna del cromosoma 2 Disomie uniparentale maternelle du chromosome 2 Disomía uniparental materna del cromosoma 2 Dissomia uniparental de origem materna, cromossoma 2 Maternal uniparental disomy of chromosome 2 Uniparentale Disomie 2, maternale hrdo:pat_id_12804 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=uniparental+disomy+(pair+4%5Btw%5D+OR+chromosome+4%5Btw%5D)+(Mothers+OR+maternal*) Q99.8 96180 malformation syndrome UPD(4)mat UPD(4)mat UPD(4)mat UPD(4)mat UPD(4)mat UPDM 4 Disomia uniparentale materna del cromosoma 4 Disomie uniparentale maternelle du chromosome 4 Disomía uniparental materna del cromosoma 4 Dissomia uniparental de origem materna, cromossoma 4 Maternal uniparental disomy of chromosome 4 Uniparentale Disomie 4, maternale hrdo:pat_id_12805 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=uniparental+disomy+(pair+6%5Btw%5D+OR+chromosome+6%5Btw%5D)+(Mothers+OR+maternal*) Q99.8 96181 malformation syndrome UPD(6)mat UPD(6)mat UPD(6)mat UPD(6)mat UPD(6)mat Disomia uniparentale materna del cromosoma 6 Disomie uniparentale maternelle du chromosome 6 Disomía uniparental materna del cromosoma 6 Dissomia uniparental de origem materna, cromossoma 6 Maternal uniparental disomy of chromosome 6 Uniparentale Disomie 6, maternale hrdo:pat_id_12806 180860 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=uniparental+disomy+(pair+7%5Btw%5D+OR+chromosome+7%5Btw%5D)+(Mothers+OR+maternal*) Q87.1 96182 etiological subtype UPD(7)mat UPD(7)mat UPD(7)mat UPD(7)mat UPD(7)mat Dissomia uniparental de origem materna, cromossoma 7 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 Silver-Russell-Syndrom durch maternale uniparental Disomie des Chromosom 7 Sindrome di Silver-Russell da disomia uniparentale materna del cromosoma 7 Syndrome de Silver-Russell dû à une disomie uniparentale maternelle du chromosome 7 Síndrome de Silver-Russell debido a una disomía uniparental materna del cromosoma 7 hrdo:pat_id_12807 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=uniparental+disomy+(pair+9%5Btw%5D+OR+chromosome+9%5Btw%5D)+(Mothers+OR+maternal*) Q99.8 96183 malformation syndrome UPD(9)mat UPD(9)mat UPD(9)mat UPD(9)mat UPD(9)mat Disomia uniparentale materna del cromosma 9 Disomie uniparentale maternelle du chromosome 9 Disomía uniparental materna del cromosoma 9 Dissomia uniparental de origem materna, cromossoma 9 Maternal uniparental disomy of chromosome 9 Uniparentale Disomie 9, maternale hrdo:pat_id_12808 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=uniparental+disomy+(pair+14%5Btw%5D+OR+chromosome+14%5Btw%5D)+(mothers+OR+maternal*)+OR+maternal+UPD14%5Btw%5D Q99.8 96184 etiological subtype UPD(14)mat UPD(14)mat UPD(14)mat UPD(14)mat UPD(14)mat Disomia uniparentale materna del cromosoma 14 Disomie uniparentale maternelle du chromosome 14 Disomía uniparental materna del cromosoma 14 Dissomia uniparental de origem materna, cromossoma 14 Maternal uniparental disomy of chromosome 14 Uniparentale Disomie 14, maternale hrdo:pat_id_12809 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=uniparental+disomy+(pair+16%5Btw%5D+OR+chromosome+16%5Btw%5D)+(mothers+OR+maternal*)+OR+maternal+UPD16%5Btw%5D Q99.8 96185 malformation syndrome UPD(16)mat UPD(16)mat UPD(16)mat UPD(16)mat UPD(16)mat Disomia uniparentale materna del cromosoma 16 Disomie uniparentale maternelle du chromosome 16 Disomía uniparental materna del cromosoma 16 Dissomia uniparental de origem materna, cromossoma 16 Maternal uniparental disomy of chromosome 16 Uniparentale Disomie 16, maternale hrdo:pat_id_12810 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=uniparental+disomy+(pair+20%5Btw%5D+OR+chromosome+20%5Btw%5D)+(mothers+OR+maternal*)+OR+maternal+UPD20%5Btw%5D Q99.8 96186 malformation syndrome UPD(20)mat UPD(20)mat UPD(20)mat UPD(20)mat UPD(20)mat Disomia uniparentale materna del cromosoma 20 Disomie uniparentale maternelle du chromosome 20 Disomía uniparental materna del cromosoma 20 Dissomia uniparental de origem materna, cromossoma 20 Maternal uniparental disomy of chromosome 20 Uniparentale Disomie 20, maternale hrdo:pat_id_12811 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=uniparental+disomy+(pair+21%5Btw%5D+OR+chromosome+21%5Btw%5D)+(mothers+OR+maternal*)+OR+maternal+UPD21%5Btw%5D Q99.8 96187 malformation syndrome UPD(21)mat UPD(21)mat UPD(21)mat UPD(21)mat UPD(21)mat Disomia uniparentale materna del cromosoma 21 Disomie uniparentale maternelle du chromosome 21 Disomía uniparental materna del cromosoma 21 Dissomia uniparental de origem materna, cromossoma 21 Maternal uniparental disomy of chromosome 21 Uniparentale Disomie 21, maternale hrdo:pat_id_12812 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=uniparental+disomy+(pair+22%5Btw%5D+OR+chromosome+22%5Btw%5D)+(mothers+OR+maternal*)+OR+maternal+UPD22%5Btw%5D Q99.8 96188 malformation syndrome UPD(22)mat UPD(22)mat UPD(22)mat UPD(22)mat UPD(22)mat Disomia uniparentale materna del cromosoma 22 Disomie uniparentale maternelle du chromosome 22 Disomía uniparental materna del cromosoma 22 Dissomia uniparental de origem materna, cromossoma 22 Maternal uniparental disomy of chromosome 22 Uniparentale Disomie 22, maternale hrdo:pat_id_12814 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=uniparental+disomy+(pair+5%5Btw%5D+OR+chromosome+5*%5Btw%5D)+(fathers+OR+paternal*)+OR+paternal+UPD5%5Btw%5D Q99.8 96190 malformation syndrome UPD(5)pat UPD(5)pat UPD(5)pat UPD(5)pat UPD(5)pat Disomia uniparentale paterna del cromosoma 5 Disomie uniparentale paternelle du chromosome 5 Disomía uniparental paterna del cromosoma 5 Dissomia uniparental de origem paterna, cromossoma 5 Paternal uniparental disomy of chromosome 5 Uniparentale Disomie 5, paternale hrdo:pat_id_12815 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=uniparental+disomy+(pair+6%5Btw%5D+OR+chromosome+6*%5Btw%5D)+(fathers+OR+paternal*)+OR+paternal+UPD6%5Btw%5D Q99.8 96191 malformation syndrome UPD(6)pat UPD(6)pat UPD(6)pat UPD(6)pat UPD(6)pat UPDP 6 Disomia uniparentale paterna del cromosoma 6 Disomie uniparentale paternelle du chromosome 6 Disomía uniparental paterna del cromosoma 6 Dissomia uniparental de origem paterna, cromossoma 6 Paternal uniparental disomy of chromosome 6 Uniparentale Disomie 6, paternale hrdo:pat_id_12816 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=uniparental+disomy+(pair+7%5Btw%5D+OR+chromosome+7*%5Btw%5D)+(fathers+OR+paternal*)+OR+paternal+UPD7%5Btw%5D Q99.8 96192 malformation syndrome UPD(7)pat UPD(7)pat UPD(7)pat UPD(7)pat UPDP 7 Disomia uniparentale paterna del cromosoma 7 Disomie uniparentale paternelle du chromosome 7 Disomía uniparental paterna del cromosoma 7 Dissomia uniparental de origem paterna, cromossoma 7 Paternal uniparental disomy of chromosome 7 Uniparentale Disomie 7, paternale hrdo:pat_id_12817 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=uniparental+disomy+(pair+11%5Btw%5D+OR+chromosome+11*%5Btw%5D)+(fathers+OR+paternal*)+OR+paternal+UPD11%5Btw%5D Q87.3 96193 etiological subtype Disomia uniparentale paterna del cromosoma 11, tipo a mosaico Disomia uniparentale paterna del cromosoma 11, tipo in mosaico Disomie uniparentale mosaïque d'origine paternelle chromosome 11 Disomía uniparental paterna en mosaico del cromosoma 11 Mosaic paternal uniparental disomy of chromosome 11 Paternale UPD(11) im Mosaik UPD(11)pat UPD(11)pat UPD(11)pat UPD(11)pat UPD(11)pat UPDP 11 in mosaico Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 Beckwith-Wiedemann-Syndrom durch paternale uniparentale Disomie 11 Dissomia uniparental de origem paterna, cromossoma 11 Sindrome di Beckwith-Wiedemann da disomia uniparentale paterna del cromosoma 11 Syndrome de Beckwith-Wiedemann dû à une disomie uniparentale d'origine paternelle du chromosome 11 Síndrome de Beckwith-Wiedemann debido a una disomía uniparental paterna del cromosoma 11 hrdo:pat_id_12818 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=uniparental+disomy+(pair+20%5Btw%5D+OR+chromosome+20*%5Btw%5D)+(fathers+OR+paternal*)+OR+paternal+UPD20%5Btw%5D Q99.8 96194 malformation syndrome UPD(20)pat UPD(20)pat UPD(20)pat UPD(20)pat UPD(20)pat Disomia uniparentale paterna del cromosoma 20 Disomie uniparentale d'origine paternelle du chromosome 20 Disomía uniparental paterna del cromosoma 20 Dissomia uniparental de origem paterna, cromossoma 20 Paternal uniparental disomy of chromosome 20 Uniparentale Disomie 20, paternale hrdo:pat_id_12819 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=uniparental+disomy+(pair+21%5Btw%5D+OR+chromosome+21*%5Btw%5D)+(fathers+OR+paternal*)+OR+paternal+UPD21%5Btw%5D Q99.8 96195 malformation syndrome UPD(21)pat UPD(21)pat UPD(21)pat UPD(21)pat UPD(21)pat Disomia uniparentale paterna del cromosoma 21 Disomie uniparentale paternelle du chromosome 21 Disomía uniparental paterna del cromosoma 21 Dissomia uniparental de origem paterna, cromossoma 21 Paternal uniparental disomy of chromosome 21 Uniparentale Disomie 21, paternale hrdo:pat_id_12825 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(X%5Bti%5D+OR+chromosome+x)+(small+ring*%5Btw%5D+OR+tiny+ring*%5Btw%5D) Q99.8 96201 malformation syndrome Chromosom X, kleine Ringe Cromossoma X em anel, pequeno Pequeño cromosoma X en anillo Petits anneaux du X X a piccoli anelli X small rings hrdo:pat_id_12826 96210 group of phenomes Rare genetic deafness Schwerhörigkeit, genetisch bedingte Sordera, genética Sordità genetica Surdez genética Surdité génétique rare hrdo:pat_id_12827 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 219090 D047748 10035109 neant E24.0 96253 190502001 C0221406 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Adenoma corticotropo ipofisario Adenoma hipofisario corticotropo Adénome corticotrope hypophysaire Corticotroph pituitary adenoma Hypophysenadenom, kortikotropes Micro-adenoma corticotropo hipofisario Pituitary corticotroph micro-adenoma Pituitary dependent Cushing syndrome Sindrome de Cushing hipofisario dependiente Sindrome di Cushing dipendente dall'ipofisi Syndrome de Cushing dépendant de l'ACTH hypophysaire Cushing disease Cushing-Krankheit Doença de Cushing Enfermedad de Cushing Maladie de Cushing Malattia di Cushing hrdo:pat_id_12829 102200 neant D35.2 E22.0 96256 254957009 group of phenomes Somatotropinoma Somatotropinoma Somatotropinoma Somatotropinome Adenom, somatotropes Adenoma somatotropo Adenoma somatotropo Adenoma somatotrófico Adénome somatotrope Somatotroph adenoma hrdo:pat_id_1283 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 102100 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&details_term=%28Acromegaly+OR+acromegaloid%5Bti%5D%29+%28cutis+verticis+gyrata+OR+scalp%29+%28corneal+leukoma+OR+Corneal+Opacity%29 Q82.8 964 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acromegalia - cutis verticis gyrata - leucoma corneale Acromegalia cutis gyrata Acromegaly - cutis verticis gyrata - corneal leukoma Acromégalie - cutis gyrata - leucome cornéen Akromegalie - Cutis gyrata - Kornea-Leukom Alterações acromegalóides - cutis verticis gyrata - leucocória hrdo:pat_id_12832 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 10048228 neant Q98.1 96263 78317008 C0265498 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 48, XXXY 48, XXXY 48, XXXY 48,XXXY syndrome 48,XXXY-Syndrom Sindrome 48,XXXY Syndrome 48,XXXY Síndrome 48,XXXY Síndrome 48,XXXY hrdo:pat_id_12833 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant Q98.1 96264 38847009 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown 49, XXXXY 49, XXXXY 49, XXXXY 49,XXXXY syndrome 49,XXXXY-Syndrom Sindrome 49,XXXXY Syndrome 49,XXXXY Síndrome 49,XXXXY Síndrome 49,XXXXY hrdo:pat_id_12834 238320 neant Q56.1 96265 clinical subtype 46,XY DSD due to complete LH receptor inactivation 46,XY DSD due to complete LH resistance 46,XY DSD due to complete luteinizing hormone receptor inactivation 46,XY DSD due to complete luteinizing hormone resistance 46,XY disorder of sex development due to complete LH receptor inactivation 46,XY disorder of sex development due to complete LH resistance 46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation 46,XY disorder of sex development due to complete luteinizing hormone resistance ADS 46,XY due à l'inactivation complète du récepteur LH ADS 46,XY par résistance complète à l'hormone lutéinisante ADS 46,XY par résistance complète à la LH Anomalie du développement sexuel 46,XY due à l'inactivation complète du récepteur LH Anomalie du développement sexuel 46,XY par résistance complète à l'hormone lutéinisante Anomalie du développement sexuel 46,XY par résistance complète à la LH DSD 46,XY due à l'inactivation complète du récepteur LH DSD 46,XY par résistance complète à l'hormone lutéinisante DSD 46,XY par résistance complète à la LH Hypoplasie des cellules de Leydig due à l'inactivation complète du récepteur LH Hypoplasie des cellules de Leydig due à l'inactivation complète du récepteur à l'hormone lutéinisante Hypoplasie des cellules de Leydig par résistance complète à l'hormone lutéinisante Leydig cel hypoplasia due to complete LH receptor inactivation Leydig cel hypoplasia due to complete luteinizing hormone receptor inactivation Leydig cel hypoplasia due to complete luteinizing hormone resistance Hypoplasie des cellules de Leydig par résistance complète à la LH LH-Resistenz durch komplette LH-Rezeptor-Inaktivierung Leydig cell hypoplasia due to complete LH resistance Resistencia a LH por inactivación completa del receptor de LH Resistenza a LH da inattivazione completa del recettore LH Resistência à LH por inativação completa do recetor LH hrdo:pat_id_12835 238320 neant Q56.1 96266 clinical subtype 46,XY DSD due to partial LH receptor inactivation 46,XY DSD due to partial LH resistance 46,XY DSD due to partial luteinizing hormone resistance 46,XY disorder of sex developement due to partial LH receptor inactivation 46,XY disorder of sex developement due to partial LH resistance 46,XY disorder of sex developement due to partial luteinizing hormone resistance ADS 46,XY due à l'inactivation partielle du récepteur LH ADS 46,XY due à l'inactivation partielle du récepteur à l'hormone lutéinisante ADS 46,XY par résistance partielle à l'hormone lutéinisante ADS 46,XY par résistance partielle à la LH Anomalie du dévelopement sexuel 46,XY par résistance partielle à la LH Anomalie du développement 46,XY due à l'inactivation partielle du récepteur à l'hormone lutéinisante Anomalie du développement sexuel 46,XY due à l'inactivation partielle du récepteur LH Anomalie du développement sexuel 46,XY par résistance partielle à l'hormone lutéinisante DSD 46,XY due à l'inactivation partielle du récepteur LH DSD 46,XY due à l'inactivation partielle du récepteur à l'hormone lutéinisante DSD 46,XY par résistance partielle à l'hormone lutéinisante DSD 46,XY par résistance partielle à la LH Hypoplasie des cellules de Leydig due à l'inactivation partielle du récepteur LH Hypoplasie des cellules de Leydig due à l'inactivation partielle du récepteur à l'hormone lutéinisante Hypoplasie des cellules de Leydig par résistance partielle à l'hormone lutéinisante Leydig cell hypoplasia due to partial LH receptor inactivation Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation Leydig cell hypoplasia due to partial luteinizing hormone resistance Hypoplasie des cellules de Leydig par résistance partielle à la LH LH-Resistenz durch partielle LH-Rezeptor-Inaktivierung Leydig cell hypoplasia due to partial LH resistance Resistencia a LH por inactivación parcial del receptor de LH Resistenza a LH da inattivazione parziale del recettore LH Resistência à LH por inativação parcial do recetor LH hrdo:pat_id_12838 neant Q52.0 96269 morphological anomaly Absence congénitale du vagin Absence de vagin Absence of vagina Assenza congenita della vagina Assenza della vagina Ausencia congénita de vagina Congenital absence of vagina Vaginalaplasie Vaginalaplasie, kongenitale Agenesia parziale isolata della vagina Agenesia vaginal Agenesia vaginal parcial aislada Agénésie vaginale isolée partielle Isolated partial vaginal agenesis Vaginalagenesie, isolierte partielle hrdo:pat_id_12839 D011123 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Polyploidy%5Bmajr%5D+OR+Polyploid*%5Bti%5D+OR+tetraploid*%5Bti%5D+OR+triploid*%5Bti%5D)+humans+NOT+(dna+OR+Chromosomes) Q92.7 96321 48099008 72991005 C0032578 group of phenomes Poliploidia Poliploidia Poliploidía Polyploidie Polyploidy Polyploïdie hrdo:pat_id_1284 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 102150 C535655 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Acromegaloid%5Bti%5D+AND+%28facial%5Bti%5D+OR+feature*%5Bti%5D+OR+syndrome%5Bti%5D+OR+manifestation*%5Bti%5D%29 Q87.0 965 C0796280 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Akromegaloides Gesichtsbild-Syndrom Acromegaloid facial appearance syndrome Acromegaloide, facies Facies acromegaloide Syndrom der akromegalen Gesichtszüge (AFA) Syndrome du faciès acromégaloïde Síndrome face acromegalóide hrdo:pat_id_12840 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Isochromosome+Y%5Btw%5D+OR+Y+isochromosome*%5Btw%5D Q98.6 96325 group of phenomes Isocromosomia Yp Isocromosomia Yq Isochromosom Y Isochromosome Y Isochromosome Y Isocromosoma Y Isocromosoma Y Isocromossoma Y hrdo:pat_id_12842 96333 group of phenomes Malformation othorinolaryngologique rare Malformazione rara d'interesse otorinolaringoiatrico Malformação otorrinolaringológica, rara Otorhinolaryngologische Fehlbildung, seltene Otorrinolaringológica, malformación, rara Rare otorhinolaryngological malformation hrdo:pat_id_12843 608149 C536471 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=uniparental+disomy+(pair+14%5Btw%5D+OR+chromosome+14*%5Btw%5D)+(fathers+OR+paternal*)+OR+paternal+UPD14%5Btw%5D Q99.8 96334 C1842466 etiological subtype UPD(14)pat UPD(14)pat UPD(14)pat UPD(14)pat UPD(14)pat Disomia uniparentale paterna del cromosoma 14 Disomie uniparentale paternelle du chromosome 14 Disomía uniparental paterna del cromosoma 14 Dissomia uniparental de origem paterna, cromossoma 14 Paternal uniparental disomy of chromosome 14 Uniparentale Disomie 14, paternale hrdo:pat_id_12845 96344 group of phenomes Doença ginecológica ou obstétrica rara Enfermedad ginecológica y obstétrica, rara Gynäkologie oder Geburtshilfe, seltene Krankheiten der Maladie gynécologique ou obstétrique rare Malattia ginecologica e ostetrica rara Rare gynecologic or obstetric disease hrdo:pat_id_12846 96346 group of phenomes Anorectal malformation Anorektale Fehlbildung Malformación anorrectal Malformation anorectale Malformazione anorettale Síndrome de malformação anoretal hrdo:pat_id_1285 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Acromegaloid+AND+hypertrichosis Q87.0 966 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acromegaloid facies - hypertrichosis Akromegalides Gesicht - Hypertrichose Facies acromegaloide - ipertricosi Hipertricose - face acromegalóide Hypertrichose - faciès acromégaloïde Síndrome acromegaloide hipertricosis hrdo:pat_id_12850 96369 group of phenomes Early-onset schizophrenia Esquizofrenia orgânica de início precoce Esquizofrenia, orgánica, de inicio temprano Schizofrenia organica ad esordio precoce Schizophrenie, früh beginnende, organisch bedingte Schizophrénie de début précoce hrdo:pat_id_12853 97120 24269006 C0265213 group of phenomes Arthrogrypose distale Arthrogrypose, distale Artrogripose distal Artrogriposi distale Artrogriposis, distal Distal arthrogryposis hrdo:pat_id_12855 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 10058554 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=%22Eisenmenger+syndrome%22+OR+Eisenmenger+Complex I27.2 97214 malformation syndrome 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Eisenmenger syndrome Eisenmenger-Syndrom Malattia di Eisenmenger Syndrome d'Eisenmenger Síndrome de Eisenmenger Síndrome de Eisenmenger hrdo:pat_id_12856 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 211530 614707 C537111 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=((Brown-Vialetto-van+OR+Vialetto-van)+Laere)+OR+((hearing+loss+OR+deafness)+(ponto+bulbar+palsy+OR+bulbo-pontine+paralysis)) G12.1 97229 C0796274 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Pérdida de audición neurosensorial - parálisis pontobulbar Pérdida de audición sensorineural - parálisis pontobulbar Sensorineural hearing loss - pontobulbar palsy Surdité neurosensorielle - paralysie ponto-bulbaire Brown-Vialetto-van Laere syndrome Brown-Vialetto-van Laere-Syndrom Sindrome di Brown-Vialetto-Van Laere Syndrome de Brown-Vialetto-van Laere Síndrome de Brown-Vialetto-van Laere Síndrome de Brown-Vialetto-van Laere hrdo:pat_id_12857 Variabel Variabile Variable Variable Variable Variable Variável 10041307 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=%22Solar+urticaria%22 L56.3 97230 10347006 C0263610 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 SU Orticaria solare Solar urticaria Sonnenurtikaria Urticaire solaire Urticaria solar Urticária solar hrdo:pat_id_12858 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 217090 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Ligneous+conjunctivitis H10.4 97231 403435005 C1274789 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Conjunctivitis lignosa Conjunctivitis lignosa Conjuntivitis leñosa Congiuntivite lignea Conjonctivite ligneuse Conjuntivite lenhosa Conjuntivitis leñosa Konjunktivitis, lignöse Ligneous conjunctivitis hrdo:pat_id_12859 305550 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Muscular+Diseases%5Bmh%5D+OR+myopath*+OR+myositis)+(fingerprint+bod*%5Btw%5D+OR+fingerprint+inclu*%5Btw%5D) G71.2 97232 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Myopathie avec inclusions en empreinte digitale Fingerprint body myopathy Fingerprint-Body-Myopathie Miopatia com corpos em forma de impressão digital Miopatia con corpi a ''impronta digitale'' Miopatía con inclusiones en huella dactilar Myopathie à empreintes digitales hrdo:pat_id_12860 261670 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Myopathy+phosphoglycerate+mutase+deficiency E74.0 97234 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficit di fosfoglicerato mutasi muscolare Déficit de fosfoglicerato mutasa muscular Déficit en phosphoglycérate mutase musculaire GSD da deficit di fosfoglicerato mutasi GSD due to phosphoglycerate mutase deficiency GSD par déficit en phosphoglycérate mutase GSD por déficit de fosfoglicerato mutasa Glicogenosi da deficit di fosfoglicerato mutasi Glucogenosis por déficit de fosfoglicerato mutasa Glycogenosis due to phosphoglycerate mutase deficiency Miopatia da deficit di fosfoglicerato mutasi Miopatía por déficit de fosfoglicerato mutasa muscular Muscle phosphoglycerate mutase deficiency Myopathie par déficit en phosphoglycérate mutase Myopathy due to phosphoglycerate mutase deficiency Phosphoglycerat-Mutase-Mangel, muskulärer Enfermedad de almacenamiento de glucógeno por déficit de fosfoglicerato mutasa Glycogen storage disease due to phosphoglycerate mutase deficiency Glycogénose par déficit en phosphoglycérate mutase Malattia da deposito di glicogeno dovuta a deficit di fosfoglicerato mutasi Miopatia por deficiência de fosfoglicerato mutase Myopathie durch Phosphoglycerat-Mutase-Mangel hrdo:pat_id_12861 600332 606072 C535685 10069417 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Rippling+muscle+disease%5Bti%5D+OR+(Muscular+Diseases+OR+myopath*%5Btw%5D)+%22rippling+muscle%22 G71.8 97238 C1853698 disease Maladie des muscles ondulants 'Rippling-muscle'-Krankheit Doença de músculo rippling Enfermedad de los músculos ondulantes Miopatia con muscolatura increspata Rippling muscle disease Rippling muscle disease hrdo:pat_id_12862 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300717 300718 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=%22reducing+body%22+myopathy G71.2 97239 42779002 C0270970 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Myopathie mit reduzierenden Einschlusskörpern Miopatia com corpos redutores Miopatia con ''corpi ridotti'' Miopatía con inclusiones reductoras Myopathie à corps réducteurs Reducing body myopathy Reducing-Body-Myopathie hrdo:pat_id_12863 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=zebra+bod*%5Btw%5D+myopathy G71.2 97240 34513009 C0270969 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Miopatia com corpos com padrão de zebra Miopatia con ''corpi zebrati'' Miopatía con inclusiones en zebra Myopathie à corps zébré Zebra body myopathy Zebra-Körperchen-Myopathie hrdo:pat_id_12865 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant G71.2 97242 240059009 C0699743 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 CMD DMC Congenital muscular dystrophy Distrofia muscolare congenita Distrofia muscular congénita Distrofia muscular, congénita Dystrophie musculaire congénitale Muskeldystrophie, kongenitale hrdo:pat_id_12866 602771 C535683 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=%22Rigid+spine%22+syndrome G71.2 97244 disease Rigid spine syndrome Syndrome du rachis raide Rigid spine syndrome Rigid-Spine-Syndrom Sindrome della colonna rigida Syndrome de la colonne raide Síndrome da coluna rígida Síndrome de columna rígida hrdo:pat_id_12867 255300 10062547 neant G71.2 97245 C0270960 group of phenomes Congenital myopathy Miopatia congenita Miopatia congénita Miopatía congénita Myopathie congénitale Myopathie, kongenitale hrdo:pat_id_12868 608027 C548072 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Pontocerebellar+hypoplasia%5Bti%5D+OR+Olivopontocerebellar+Atrophies)+((progressive+microcephaly)+OR+%22type+iii%22) Q04.3 97249 C1842687 malformation syndrome Atrofia cerebellare con microcefalia progressiva Atrophie du cervelet avec microcéphalie progressive Cerebellar atrophy with progressive microcephaly HPC avec atrophie optique HPC sans diskinésie IPC con atrofia ottica IPC senza discinesia PCH with optic atrophy PCH without dyskinesia Hipoplasia pontocerebelosa tipo 3 Hipoplasia pontocerebelosa, tipo 3 Hypoplasie ponto-cérébelleuse type 3 Ipoplasia pontocerebellare, tipo 3 Pontocerebellar hypoplasia type 3 Pontozerebelläre Hypoplasie Typ 3 hrdo:pat_id_12869 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=%22Mega+cisterna%22+magna+OR+%22Megacisterna+magna%22 Q07.8 97252 morphological anomaly Poche arachnoïdienne de la cisterna magna Mega cisterna magna Mega-cisterna magna Megacisterna magna Megacisterna magna Megacisterna magna Méga-cisterna magna hrdo:pat_id_1287 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 201250 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=acromesomelic+AND+hunter+thompson%5Btw%5D Q78.8 968 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acromesomelic dwarfism Kleinwuchs, akromesomeler Nanisme acromésomélique Nanismo acromesomelico Acromesomelic dysplasia, Hunter-Thomson type Displasia acromesomelica, tipo Hunter-Thompson Displasia acromesomélica tipo Hunter-Thompson Displasia acromesomélica, tipo Hunter-Thompson Dysplasie acromésomélique type Hunter-Thompson Dysplasie, akromesomele, Typ Hunter-Thompson hrdo:pat_id_12870 neant D13.7 97253 group of phenomes Tumeur endocrine du pancréas Pancreatic endocrine tumor Pankreastumor, endokriner Tumeur endocrine pancréatique Tumor endocrino pancreático Tumor pancreático endócrino Tumore endocrino del pancreas hrdo:pat_id_12871 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=GRFoma+OR+(Growth+hormone+releasing+factor+(Paraneoplastic+Endocrine+Syndromes+OR+neuroendocrine+tumor)) D13.7 97261 disease GRF (Growth hormone releasing factor)-Tumor GRF tumor Growth hormone releasing factor tumor Somatotropinom Tumeur secrétant le GRF Tumeur secrétant le facteur de libération de l'hormone de croissance Tumeur à GRF Tumore causato dal fattore che rilascia l'ormone della crescita Tumore da GRF GRFom GRFoma GRFoma GRFoma GRFoma GRFome hrdo:pat_id_12873 D004660 10014581 97275 45170000 C0014038 group of phenomes Encefalite Encefalite Encefalitis Encephalitis Encéphalite Enzephalitis hrdo:pat_id_12874 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(%22PPoma%22+OR+%22PP-oma%22+OR+Pancreatic+Polypeptide%5Bmajr%5D)+(Paraneoplastic+Endocrine+Syndromes+OR+neuroendocrine+tumor+OR+Pancreatic+Neoplasms) D13.7 97278 disease Pancreatic polypeptidoma Pankreatisches Polypeptidom Polipeptidoma pancreatico Polypeptidome pancréatique Tumeur à polypeptide pancréatique PPoma PPoma PPoma PPoma PPoma PPome hrdo:pat_id_12875 D007340 10022498 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Insulinoma%5Bti%5D+OR+Insulinoma%5Bmh%5D)+(humans+OR+patient) D13.7 97279 25324008 302822000 C0021670 disease Insuloma Insulinom Insulinoma Insulinoma Insulinoma Insulinoma Insulinome hrdo:pat_id_12876 D005935 10018404 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Glucagonoma%5Bti%5D+OR+Glucagonoma%5Bmh%5D D13.7 97280 128855009 16424000 302823005 C0017689 disease Glucagonom Glucagonoma Glucagonoma Glucagonoma Glucagonoma Glucagonome hrdo:pat_id_12877 D003969 10047430 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=VIPoma%5Bti%5D+OR+VIPoma%5Bmh%5D D13.7 97282 disease VIPom VIPoma VIPoma VIPoma VIPoma VIPome hrdo:pat_id_12878 D013005 10041329 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Somatostatinoma%5Bti%5D+OR+Somatostatinoma%5Bmh%5D D13.7 97283 128642005 253006001 C0037661 disease Somatostatinom Somatostatinoma Somatostatinoma Somatostatinoma Somatostatinoma Somatostatinome hrdo:pat_id_12879 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(%22Thyroid+lymphoma%22+OR+(Thyroid+Neoplasms+AND+lymphoma))+(humans+Or+patient) 97285 disease Linfoma da tiroide Linfoma tiroideo Linfoma tiroideo Lymphome thyroïdien Schilddrüsenlymphom Thyroid lymphoma hrdo:pat_id_1288 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 602875 C535661 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28acromesomelic+OR+dwarfism+%29+AND+maroteaux%5Btw%5D+NOT+%28Mucopolysaccharidoses+OR+mucopolysaccharidos*%29 Q77.8 40 C1864356 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acromesomelic dysplasia, Maroteaux type Displasia acromesomelica, tipo Maroteaux Displasia acromesomélica tipo Maroteaux Displasia acromesomélica, tipo Maroteaux Dysplasie acromésomélique type Maroteaux Dysplasie, akromesomele, Typ Maroteaux hrdo:pat_id_12880 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 606864 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=paraganglioma++(Gastrointestinal+Stromal+Tumors+OR+gastric+stromal+sarcoma%5Btw%5D) D44.8 97286 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Associazione GIST - paraganglioma Carney dyad Carney-Stratakis dyad Carney-Stratakis-Dyade Diade GIST-paragangliome Diade de Carney Diade de Carney-Stratakis Diade di Carney Diade di Carney-Stratakis Díada Carney Díada Carney-Stratakis Díada GIST-paraganglioma Díada de Carney Díada de Carney-Stratakis Díada de GIST-paraganglioma GIST-Paragangliom-Dyade GIST-paraganglioma dyad Paragangliom und Magenstroma-Sarkom Paraganglioma and gastric stromal sarcoma Paraganglioma e sarcoma stromale gastrico Paraganglioma y sarcoma del estroma gástrico Paraganglioma y sarcoma estromal gástrico Paragangliome et sarcome stromal gastrique Carney-Stratakis syndrome Carney-Stratakis-Syndrom Sindrome di Carney-Stratakis Syndrome de Carney-Stratakis Síndrome de Carney-Stratakis Síndrome de Carney-Stratakis hrdo:pat_id_12881 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Bronchial+Neoplasms+OR+bronchial+carcinoid*%5Btw%5D)+neuroendocrine+tumors D38.1 97287 disease Bronchial carcinoid tumor Bronchial neuroendocrine tumor Carcinoide bronquial Tumeur carcinoïde bronchique Tumeur neuroendocrine bronchique Tumor carcinoide bronquial Tumor neuroendocrino bronquial Tumor, karzinoider, der Lunge Tumor, neuroendokriner, der Lunge Tumore carcinoide dei bronchi Tumore neuroendocrino dei bronchi Bronchial endocrine tumor Tumeur endocrine bronchique Tumor endocrino bronquial Tumor endócrino brônquico Tumor, endokriner, der Lunge Tumore endocrino dei bronchi hrdo:pat_id_12882 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Thymus+Neoplasms%5Bmh%3Anoexp%5D+OR+thymic+carcinoid*%5Btw%5D)+(neuroendocrine+tumors+OR+Paraneoplastic+Endocrine+Syndromes) D38.4 97289 disease Carcinoid tumor of the thymus Carcinoide del timo Thymic neuroendocrine tumor Tumeur carcinoïde thymique Tumeur neuroendocrine thymique/du thymus Tumor carcinoide del timo Tumor neuroendocrino del timo Tumor neuroendocrino tímico Tumore carcinoide del timo Tumore neuroendocrino del timo Thymic endocrine tumor Thymuskarzinom Tumeur endocrine thymique Tumor endocrino tímico Tumor endócrino do timo Tumore endocrino del timo hrdo:pat_id_12883 605642 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Carcinoma,+Papillary+OR+papillary%5Bti%5D)+Thyroid+Neoplasms%5Bmajr%5D+Kidney+Neoplasms%5Bmajr%5D C73 97290 disease PTC-RCC PTC-RCC PTC-RCC PTC-RCC PTC-RCC Cancer familial papillaire de la thyroïde avec néoplasie rénale papillaire Carcinoma papilar da tiroide com neoplasia papilar renal Carcinoma papillare della tiroide associato a tumore papillare renale Carcinoma tiroideo papilar familiar con neoplasia renal papilar Familial papillary thyroid carcinoma with renal papillary neoplasia Papilläres Schilddrüsenkarzinom mit papillärem Nierenzellkarzinom hrdo:pat_id_12885 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=cardiogenic+shock%5Bti%5D+OR+Shock,+Cardiogenic%5Bmh%5D 97292 particular clinical situation in a disease or syndrome 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Cardiogenic shock Choc cardiogénique Choque cardiogénico Kardiogene Schockbehandlung Shock cardiogeno Tratamento de choque cardiogénico hrdo:pat_id_12886 167000 607893 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Ovarian+cancer%5Bti%5D+OR+ovarian+neoplasms%5Bmajr%5D D27 97293 group of phenomes Cancro ovárico Rare benign ovarian tumor Seltener benigner Ovarialtumor Tumeur bénigne rare de l'ovaire Tumor benigno ovárico raro Tumore ovarico benigno raro hrdo:pat_id_12887 609192 C538192 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=((marfan%5Bti%5D+OR+marfanoid)+(Craniosynostos*%5Bti%5D+OR+craniosynostoses%5Bmh%5D))+NOT+(mental+retardation+OR+Shprintzen-Goldberg) 97295 C2931764 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Constitución marfanoide - síndrome de craneosinostosis Craniosinostosi marfanoide Craniosynostose marfanoïde Hábito marfanoide - síndrome de craneosinostosis Marfanoid habitus - craniosynostosis syndrome Marfanoide Störungen - Kraniosynostose Furlong syndrome Furlong-Syndrom Sindrome di Furlong Syndrome de Furlong Síndrome de Furlong Síndrome de Furlong hrdo:pat_id_12888 605039 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(%22C+like%22+OR+Bohring%5Btw%5D+OR+%22trigonocephaly+like%22)+syndrome Q87.8 97297 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 BOS syndrome BOS-Syndrom Bohring syndrome Bohring-Syndrom C-like syndrome C-ähnliches-Syndrom Oberklaid-Danks syndrome Oberklaid-Danks-Syndrom Opitz Trigonozephalus-ähnliches Syndrom Opitz trigonocephaly-like syndrome Sindrome BOS Sindrome C-simile Sindrome di Bohring Sindrome di Oberklaid-Danks Sindrome simil-trigonocefalica di Opitz Syndrome BOS Syndrome C-like Syndrome Oberklaid-Danks Syndrome d'Opitz-like - trigonocéphalie Syndrome de Bohring Síndrome BOS Síndrome C-like Síndrome de Bohring Síndrome de Oberklaid-Danks Síndrome de trigonocefalia, tipo Opitz Síndrome tipo trigonocefalia de Opitz Bohring-Opitz syndrome Bohring-Opitz-Syndrom Sindrome di Bohring-Opitz Syndrome de Bohring-Opitz Síndrome C-like Síndrome de Bohring-Opitz hrdo:pat_id_12889 D013901 10048627 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Thoracic+outlet+syndrome%5Bti%5D+OR+Thoracic+outlet+syndrome%5Bmh%5D G54.0 97330 128210009 C0039984 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown SDT SST Syndrome de défilé cervico-thoraco-brachial Syndrome de traversée cervico-thoraco-brachiale TOS TOS TOS TOS Sindrome dello sbocco toracico Syndrome du defilé thoracique Síndrome de la salida torácica Síndrome do canal torácico Thoracic outlet syndrome Thoracic-outlet-Syndrom hrdo:pat_id_1289 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 102370 C535662 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Acromicric Q77.8 969 254090007 C0265287 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Acromicric dysplasia Displasia acromicrica Displasia acromícrica Displasia acromícrica Dysplasie acromicrique Dysplasie, akromikrische hrdo:pat_id_12890 10064242 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Kienbock*%5Btw%5D M93.2 97332 360466009 367356000 C0022682 disease Aseptic necrosis of the lunate bone Aspetische Mondbeinnekrose Lunatomalacia Lunatomalacia Lunatomalacia Lunatummalazie Lunatumnekrose Necrosi asettica dell'osso semilunare Necrosis aséptica del hueso semi-lunar Necrosis aséptica del hueso semilunar Nécrose aseptique du semi-lunaire Osteochondritis des Mondbeins Osteochondritis of the lunate bone Osteochondrosis of the lunate bone Osteocondrite dell'osso semilunare Osteocondritis del hueso semi-lunar Osteocondritis del hueso semilunar Osteocondrosi dell'osso semilunare Osteocondrosis del hueso semi-lunar Osteocondrosis del hueso semilunar Ostéochondrite du semi-lunaire Doença de Kienbock Enfermedad de Kienbock Kienbock disease Kienböck-Krankheit Maladie de Kienbock Malattia di Kienbock hrdo:pat_id_12891 10031130 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(osteochondritis%5Bmh%5D+OR+%22Osgood+Schlatter%22)+(tibia%5Bmh%5D+Or+tibia*%5Bti%5D)+(humans+OR+patients)+NOT+injuries M93.2 97335 72047008 disease Aseptic necrosis of the tibial tubercle Aseptische Nekrose des Tuberositas tibiae Necrosi asettica del tubercolo tibiale Necrosis aséptica de la tuberosidad de la tibia Necrosis aséptica del tubérculo tibial Nécrose aseptique du tubercule tibial Osteochondritis des Tuberositas tibiae Osteochondritis of the tibial tubercle Osteochondrosis des Tuberositas tibiae Osteochondrosis of the tibial tubercle Osteocondrite del tubercolo tibiale Osteocondritis de la tuberosidad de la tibia Osteocondritis del tubérculo tibial Osteocondrosi del tubercolo tibiale Osteocondrosis de la tuberosidad de la tibia Osteocondrosis del tubérculo tibial Ostéochondrite du tubercule tibial Doença de Osgood-Schlatter Enfermedad de Osgood-Schlatter Maladie d'Osgood-Schlatter Malattia di Osgood-Schlatter Osgood-Schlatter disease Osgood-Schlatter-Krankheit hrdo:pat_id_12892 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(osteochondritis%5Bmh%5D+OR+Panner%5Btw%5D)+(capitulum+OR+capitell*+OR+Elbow+Joint%5Bmh%5D) M93.2 97336 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Aseptic necrosis of the capital humerus Necrosi asettica dei condili omerali Necrosis aséptica de la cabeza del húmero Necrosis aséptica del capítulo del húmero Nécrose aseptique des condyles huméraux Osteochondrosis of the capital humerus Osteocondrosi dei condili omerali Osteocondrosis de la cabeza del húmero Osteocondrosis del capítulo del húmero Ostéochondrite des condyles huméraux Doença de Panner Enfermedad de Panner Maladie de Panner Malattia di Panner Panner disease Panner-Krankheit hrdo:pat_id_12893 10063585 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=((osteochondritis+OR+(larsen%5Ball%5D+johanss*%5Ball%5D))+(patella*%5Bti%5D+OR+patella%5Bmh%5D)+(humans%5Bmh%5D+OR+patients))+NOT+(tibia%5Bmh%5D+OR+tibial) M93.2 97337 203389008 C0264096 C1504517 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Aseptic necrosis of patella Necrosi asettica della rotula Necrosis aséptica de la rótula Necrosis aséptica de rótula Nécrose aseptique de la rotule Osteochondrosis der Patella Osteochondrosis of patella Osteocondrosi della rotula Osteocondrosis de la rótula Osteocondrosis de rótula Ostéochondrose de la rotule Patellanekrose, aseptische Doença de Sinding-Larsen-Johansson Enfermedad de Sinding-Larsen-Johansson Maladie de Sinding-Larsen-Johansson Malattia di Sinding-Larsen-Johansson Sinding-Larsen-Johansson disease Sinding-Larsen-Johansson-Syndrom hrdo:pat_id_12894 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Clear+cell+sarcoma%5Bti%5D+OR+sarcoma,+clear+cell%5Bmh%5D 97338 disease Clear cell sarcoma of soft tissue Clear cell sarcoma of the tendons and aponeuroses Klarzellsarkom der Sehnen und Aponeurosen Klarzellsarkom der Weichteile Sarcoma a cellule chiare dei tendini e delle aponeurosi Sarcoma a cellule chiare dei tessuti molli Sarcoma de célula clara de tejido blando Sarcoma de célula clara de tendones y aponeurosis Sarcoma de células claras de tejidos blandos Sarcoma de células claras de tendones y aponeurosis Sarcome des tissus mous à cellules claires Sarcome à cellules claires des tendons et des aponévroses Melanom der Weichteile Melanoma de partes blandas Melanoma delle parti molli Melanoma dos tecidos moles Melanoma of soft part Mélanome des tissus mous hrdo:pat_id_12895 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=dural+arteriovenous+fistula*%5Bti%5D+OR+(Cranial+Sinuses+AND+dural+arteriovenous+fistula%5Bmh%5D) Q28.3 97339 morphological anomaly Arteriovenöse Fehlbildung, durale kraniale Cranial dural arteriovenous fistula Cranial dural arteriovenous malformations Fistel, arteriovenöse durale Fistola arterovenosa della dura del cranio Fistule artério-veineuse durale du crâne Fístula arteriovenosa dural craneal Fístula arteriovenosa dural del cráneo Malformaciones arteriovenosas durales craneales Malformación arteriovenosa dural del cráneo Malformations artério-veineuses durales du crâne Malformazioni arterovenose durali craniche Dural sinus malformation Durale Sinusmalformation, kraniale Malfomación craneal del seno dural Malformation des sinus duraux du crâne Malformazione cranica del seno durale Malformação dos seios durais, cranianos hrdo:pat_id_12896 601379 C536072 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Hunter%5Ball%5D+McAlpine%5Ball%5D+OR+(Hunter+Fraser%5Btw%5D) Q87.0 97340 C1832408 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Craneosinostosis de Hunter-McAlpine Craniosinostosi di Hunter-McAlpine Craniossinostose de Hunter-McAlpine Hunter-McAlpine craniosynostosis Hunter-McAlpine-Kraniosynostose Syndrome de Hunter-McAlpine hrdo:pat_id_12897 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Persistent+placoid+maculopathy 97341 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Maculopathie placoïde persistante Maculopatia placoide persistente Maculopatia placóide persistente Maculopatía placoidea persistente Makulopathie, persistierende plakoide Persistent placoid maculopathy hrdo:pat_id_12898 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Argyrophilic+grain+disease G31.8 97342 disease Argyrophilic grain disease (AGD) Braak's disease Braak-Krankheit Enfermedad de Braak Maladie de Braak Malattia di Braak Argyrophilic grain disease Doença dos grânulos argirófilos Enfermedad con granos argirófilos Maladie des grains argyrophiles Malattia a granuli argirofili Silberkornkrankheit hrdo:pat_id_1290 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 201300 613115 614213 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=(hereditary+sensory+and+autonomic+neuropathies[mh]+OR+(hereditary[ti]+sensory[ti]+autonom*[ti]+neuropath*[tw])+OR+hsan*)+(type+2[tw]+OR+type+II*) G60.8 970 398148000 C0270914 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acro-ostéolyse neurogénique Acroosteolisi neurogenica Acrosteólise neurogénica Akroosteolyse, neurogene Autosomal recessive sensory radicular neuropathy Doença de Morvan HSAN 2 HSAN 2 HSAN2 Morvan, doença de Morvan-Syndrom Neurogenic acroosteolysis Neuropathie radiculaire sensitive autosomique récessive Neuropathie, radikuläre sensorische, autosomal-rezessive Neuropatia radicolare sensitiva, autosomica recessiva Neuropatia radicular sensitiva forma recessiva Hereditary sensory and autonomic neuropathy type 2 Neuropathie sensitive et autonomique type 2 Neuropathie, autonome hereditäre sensorische, Typ 2 Neuropatia autonoma e sensoriale ereditaria, tipo 2 Neuropatia autonómica e sensitiva hereditária 2 Neuropatía autonómica y sensitiva hereditaria tipo 2 hrdo:pat_id_12900 176500 C538208 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=british%5Btiab%5D+(dementia+familial+OR+cerebral+amyloid+angiopathy) G31.0 97345 C1867773 disease Demencia familiar de tipo británica Demenz, familiäre, Britischer Typ Demenza familiare, tipo Britannico Demência familiar, tipo britânica Démence familiale type britannique Familial dementia, British type hrdo:pat_id_12901 117300 C538209 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Danish%5Btiab%5D+(dementia+familial+OR+cerebral+amyloid+angiopathy) G31.0 97346 C1861735 disease Demencia familiar de tipo danesa Demenz, familiäre, Dänischer Typ Demenza familiare, tipo Danese Demência familiar, tipo dinamarquês Démence familiale type danoise Familial dementia, Danish type hrdo:pat_id_12904 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=%22postencephalitic+parkinsonism%22+OR+Parkinson+Disease,+Postencephalitic F02.3 G20 97349 19972008 disease Parkinsonisme postencéphalitique Parkinsonismo postencefalitico Parkinsonismo postencefálico Parkinsonismo pós-encefalite Postencephalitic parkinsonism Postenzephalitisches Parkinson-Syndrom hrdo:pat_id_12907 D010383 10029400 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Pellagra%5Bti%5D+OR+Pellagra%5Bmh%5D E52 97352 418186002 418279001 C0030783 disease Pelagra Pelagra Pellagra Pellagra Pellagra Pellagre hrdo:pat_id_12908 97353 disease Boxer's dementia Boxer-Demenz Chronic traumatic encephalopathy Demencia de Boxer Demencia pugilística Demenza del pugile Encefalopatia cronica traumatica Encefalopatía traumática crónica Encéphalite par trauma chronique Enzephalopathie, chronische traumatische Punch-Drunk-Syndrom Punch-drunk syndrome Sindrome "Punch-drunk" Síndrome Punch-drunk Demencia pugilística Dementia pugilistica Dementia pugilistica Demenza pugilistica Demência pugilistica Démence pugilistique hrdo:pat_id_12909 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 277730 D014899 10047911 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Wernicke's+encephalopathy E51.2 97354 21007002 C0043121 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Demencia debido a deficiencia de tiamina Demencia por déficit de tiamina Dementia due to thiamin deficiency Demenz durch Thiamin-Mangel Demenza da deficit di tiamina Démence par déficit en thiamine Encefalopatia de Wernicke Encefalopatia di Wernicke Encefalopatía de Wernicke Encéphalopathie de Wernicke Wernicke's encephalopathy Wernicke-Enzephalopathie hrdo:pat_id_1291 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 102520 201310 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Acrorenal+syndrome%5Bti%5D+OR+acro+renal+syndrome%5Bti%5D Q87.2 971 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acrorenal syndrome Akrorenales Syndrom Sindrome acrorenale Syndrome acro-rénal Síndrome acro-renal Síndrome acrorenal recesivo hrdo:pat_id_12910 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Parkinson*+dementia+Guadeloupe*%5Btiab%5D F02.3 G20 97355 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Parkinsonism with dementia of Guadeloupe Parkinsonisme atypique de Guadeloupe Parkinsonismo com demência de Guadeloupe Parkinsonismo con demencia de Guadalupe Parkinsonismo con demenza della Guadalupa Parkinsonismus mit Demenz, Typ Guadeloupe hrdo:pat_id_12911 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 180700 268310 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Robinow+syndrome%5Btw%5D+OR+Covesdem%5Btw%5D+OR+fetal+face+syndrome%5Btw%5D Q87.1 97360 76520005 C0265205 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acral dysostosis with facial and genital abnormalities Akrale Dysostose - Gesichts- und Genitalanomalien Disostosi acrale con anomalie facciali e genitali Disostosis acral con anormalidades faciales y genitales Dysostose acrale avec anomalies faciales et génitales Enanismo de Robinow Fetal face syndrome Fetal face-Syndrom Mesomeler Kleinwuchs-kleine Genitalien-Syndrom Nanisme type Robinow Nanismo di Robinow Robinow dwarfism Robinow-Kleinwuchs Robinow-Silverman-Smith syndrome Robinow-Silverman-Smith-Syndrom Sindrome del viso fetale Sindrome di Robinow-Silverman-Smith Sindrome nanismo mesomelico-genitali piccoli Syndrome de Robinow-Silverman-Smith Síndrome de Robinow-Silverman-Smith Síndrome de cara de feto Síndrome enanismo mesomélico-genitales pequeños mesomelic dwarfism-small genitalia syndrome Robinow syndrome Robinow-Syndrom Sindrome di Robinow Syndrome de Robinow Síndrome de Robinow Síndrome de Robinow hrdo:pat_id_12912 neant Q60.3 97361 204948009 C0431691 clinical subtype Hipoplasia renal unilateral Hipoplasia renal, unilateral Hypoplasie rénale unilatérale Ipoplasia renale monolaterale Nierenhypoplasie, unilaterale Unilateral renal hypoplasia hrdo:pat_id_12913 neant Q60.4 97362 268232000 C0431692 clinical subtype Bilateral renal hypoplasia Hipoplasia renal bilateral Hipoplasia renal, bilateral Hypoplasie rénale bilatérale Ipoplasia renale bilaterale Nierenhypoplasie, bilaterale hrdo:pat_id_12914 601331 D021782 neant Q61.4 97363 C1567426 clinical subtype Displasia renal multiquística unilateral Displasia renal, multiquística, unilateral Displasia renale multicistica unilaterale Dysplasie rénale multikystique unilatérale Nierendysplasie, diffuse multizystische, unilaterale Unilateral multicystic renal dysplasia hrdo:pat_id_12915 143400 601331 C537373 D021782 neant Q61.4 97364 C1567427 C1840451 clinical subtype Bilateral multicystic renal dysplasia Displasia renal multiquística bilateral Displasia renal, multiquística, bilateral Displasia renale multicistica bilaterale Dysplasie rénale multikystique bilatérale Nierendysplasie, diffuse multizystische, bilaterale hrdo:pat_id_12916 97365 malformation syndrome Cisti renale semplice Kyste rénal simple Nierenzyste, einfache Quiste renal simple Simple kidney cyst Cisti renale solitaria Kyste rénal solitaire Nierenzyste, solitäre Quiste renal solitario Quisto renal, solitário Solitary renal cyst hrdo:pat_id_12917 97366 morphological anomaly Cisti multiloculare del rene Kyste rénal multiloculaire Multilocular cyst of the kidney Multilocular renal cyst Néphrome kystique Quiste multilocular del riñón Quiste renal multilocular Septierte Zysten der Niere Cisti renale multiloculare Kyste multiloculaire du rein Multiloculated renal cyst Nierenzysten, septierte Quiste renal múltiple Quisto renal, multiloculado hrdo:pat_id_12918 neant Q63.8 97367 etiological subtype Dysgénésie tubulaire rénale associée au syndrome du transfuseur transfusé Disgenesia dei tubuli renali da trasfusione gemello-gemello Disgenesia tubular renal por transfusión gemelo-gemelo Disgenesia tubular renal por transfusão gémeo-gémeo Dysgenesie, renale tubuläre, durch Zwilling-zu-Zwilling-Transfusion Dysgénésie tubulaire rénale associée au syndrome de transfusion foeto-foetale Renal tubular dysgenesis due to twin-twin transfusion hrdo:pat_id_12919 neant Q63.8 97368 etiological subtype Disgenesia dei tubuli renali da farmaci Disgenesia tubular renal asociada a fármacos Disgenesia tubular renal relacionada com químicos Dysgenesie, renale tubuläre, Medikamenten-induzierte Dysgénésie tubulaire rénale d'origine médicamenteuse Renal tubular dysgenesis drugs-related hrdo:pat_id_1292 160120 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&details_term=isaacs+syndrome/ge+OR+Myokymia/ge+OR+%28%28isaacs%5Btw%5D+OR+neuromyotonia%29%28Neuromuscular+Diseases/ge+OR+Potassium+Channels/ge%29%29 G71.1 972 disease Isaacs-Mertens syndrome Isaacs-Mertens, síndrome de Isaacs-Mertens-Syndrom Sindrome di Isaacs Mertens Syndrome d'Isaacs-Mertens Síndrome de Isaacs-Mertens Síndrome de Isaacs-Mertens Actividad continua de la fibra muscular, forma hereditaria Activité continue de la fibre musculaire familiale Atividade contínua das fibras musculares hereditária Hereditary continuous muscle fiber activity Ipereccitabilità delle fibre muscolari Muskuläre Daueraktivität, hereditäre hrdo:pat_id_12920 267430 neant Q63.8 97369 etiological subtype Disgenesia dei tubuli renali con origine genetica Disgenesia renal tubular de origem genética Disgenesia tubular renal de origen genético Dysgenesie, renale tubuläre, genetisch-bedingte Dysgénésie tubulaire rénale d'origine génétique Renal tubular dysgenesis of genetic origin hrdo:pat_id_12922 208530 10068335 neant Q89.3 97548 17604001 malformation syndrome Ivemark syndrome Ivemark-Syndrom Sindrome di Ivemark Syndrome d'Ivemark Síndrome de Ivemark Síndrome de Ivemark hrdo:pat_id_12923 97552 etiological subtype Nephrotisches Syndrom, steroid-sensitives, ohne Nierenbiopsie Sindrome nefrotica sensibile agli steroidi senza biopsia renale Steroid-sensitive nephrotic syndrome without renal biopsy Syndrome néphrotique cortico-sensible non biopsié Síndrome nefrótico sensible a los esteroides sin biopsia renal Síndrome nefrótico sensível aos esteroides, sem biópsia renal hrdo:pat_id_12924 neant N04.8 97555 group of phenomes Nephrotisches Syndrom, idiopathisches steroid-resistentes, mit kollabierende Glomerulopathie, sporadische Form Sindrome nefrotica idiopatica steroido-resistente con glomerulopatia collassante, forma sporadica Sporadic idiopathic steroid-resistant nephrotic syndrome with collapsing glomerulopathy Syndrome néphrotique idiopathique sporadique cortico-résistant avec collapsus du flocullus Síndrome nefrótico, idiopático, resistente a esteroides, esporádica, con glomerulopatía colapsante Síndrome nefrótico, idiopático, resistente aos esteróides, esporádico, com glomerulopatia colapsante hrdo:pat_id_12925 neant N04 97556 group of phenomes Congenital and infantile nephrotic syndrome Nephrotisches Syndrom, infantiles kongenitales Sindrome nefrotica, forma congenita e infantile Syndrome néphrotique congénital et du nourrisson Síndrome nefrótico, congénito e do lactente Síndrome nefrótico, forma congénita e infantil hrdo:pat_id_12926 97557 disease Permanent proteinuria with focal and segmental hyalinosis without nephrotic syndrome Proteinuria permanente con hialinosis focal y segmentaria, sin síndrome necrótico Proteinuria permanente con ialinosi segmentale e focale senza sindrome nefrotica Proteinuria persistente con hialinosis focal y segmentaria sin síndrome nefrótico Proteinurie, permanente, mit fokaler segmentaler Hyalinose, ohne Nephrotisches Syndrom Protéinurie permanente avec hyalinose segmentaire et focale sans syndrome néphrotique Chronic proteinuria with focal and segmental hyalinosis Proteinuria cronica con ialinosi segmentale e focale Proteinuria crónica con hialinosis focal y segmentaria Proteinurie, chronische, mit fokaler segmentaler Hyalinose Proteinúria, crónica, com hilianose focal e segmentar Protéinurie chronique avec hyalinose segmentaire et focale hrdo:pat_id_12927 614692 neant 97560 disease Glomerulonefrite membranosa idiopatica Glomerulonefrite membranosa, idiopática Glomerulonefritis membranosa idiopática Glomerulonephritis, idiopathische membranöse Glomérulonéphrite extra-membraneuse idiopathique Idiopathic membranous glomerulonephritis hrdo:pat_id_12928 141200 10060876 neant N02 97562 236421001 C0241908 disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Benign familial hematuria Ematuria benigna familiare Hematuria familiar benigna Hematúria, benigna, familiar Hämaturie, benigne familiäre Hématurie familiale bénigne hrdo:pat_id_12929 neant N05.7 97563 etiological subtype Glomerulonefrite pauci-immune con ANCA Glomerulonefrite, pauci-imune, com ANCAs Glomerulonefritis, pauci-inmune con ANCA Glomerulonephritis, pauci-immune, mit ANCA Glomérulonéphrite pauci-immune avec ANCA Pauci-immune glomerulonephritis with ANCA hrdo:pat_id_1293 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 102650 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28adactylia%5Bti%5D+OR+adactyly%5Bti%5D+OR+aphalangia%5Bti%5D%29+AND+humans+NOT+%28transplantation+OR+toes+OR+agloss*%29 Q71.3 973 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Adactylia of hand, unilateral Adactylie unilatérale de la main Absence/hypoplasie congénitale unilatérale des doigts à l'exception du pouce Adactilia unilateral Assenza/ipoplasia monolaterale congenita delle dita delle mani, escluso il pollice Ausencia/hipoplasia congénita de los dedos a excepción del pulgar, unilateral Congenital absence/hypoplasia of fingers excluding thumb, unilateral Fingeraplasie/-hypoplasie, excl. Daumen, kongenital hrdo:pat_id_12930 neant N05.7 97564 disease Glomerulonefrite pauci-immune senza ANCA Glomerulonefrite, pauci-imune, sem ANCAs Glomerulonefritis, pauci-inmune sin ANCA Glomerulonephritis, pauci-immune, ohne ANCA Glomérulonéphrite pauci-immune sans ANCA Pauci-immune glomerulonephritis without ANCA hrdo:pat_id_12931 neant N03.6 97566 disease Glomerulopathie, fibrilläre non-amyloide Glomerulopatia fibrilar, não-amilóide Glomerulopatia fibrillare non amiloide Glomerulopatía fibrilar no amiloide Glomérulopathie fibrillaire non-amyloïde Nonamyloid fibrillary glomerulopathy hrdo:pat_id_12932 neant N03.6 97567 disease Glomerulopathie, immunotaktoide Glomerulopatia immunotattoide Glomerulopatia imunotactoide Glomerulopatía inmunotactoide Glomérulopathie immunotactoïde Immunotactoid glomerulopathy hrdo:pat_id_12933 97569 group of phenomes Glomerulonefrite non classificata Glomerulonefrite, não-classificada Glomerulonefritis sin clasificar Glomerulonephritis, unklassifizierte Glomérulonéphrite non classée Unclassified glomerulonephritis hrdo:pat_id_12935 D011547 10037126 neant E20.1 97593 58976002 C0033806 group of phenomes Pseudo-hypoparathyroïdie Pseudohipoparatiroidismo Pseudohipoparatiroidismo Pseudohypoparathyroidism Pseudohypoparathyroidismus Pseudoipoparatiroidismo hrdo:pat_id_12937 neant Q27.1 97598 271432005 C0495523 disease Congenital renovascular hypoplasia Hipoplasia renovascular congénita Hipoplasia vascular-renal congénita Hypoplasie rénovasculaire congénitale Ipoplasia renovascolare congenita Congenital renal artery stenosis Estenose congénita da artéria renal Estenosis arterial renal congénita Nierenarterienstenose, kongenitale Stenosi congenita dell'arteria renale Sténose congénitale de l'artère rénale hrdo:pat_id_12938 97599 disease Arterial hypertension due to renal artery stenosis secondary to vasculitis Arterielle Hypertonie durch Nierenarterienstenose, sekundär bei Vaskulitis Hipertensión arterial debido a estenosis arterial renal secundaria a vasculitis Hipertensão arterial por estenose da artéria renal secundária a vasculite Hypertension artérielle par sténose de l'artère rénale secondaire à une vascularite Ipertensione arteriosa da stenosi dell'arteria renale secondaria a vasculite hrdo:pat_id_12939 97668 malformation syndrome Glomerulopathie, membranöse neonatale, mit maternalem NEP (Neutrale Endopeptidase)-Mangel Glomerulopatia membranosa neonatale, con deficit di NEP materno Glomerulopatia membranosa, neonatal, com deficiência materna de NEP Glomerulopatía membranosa neonatal con déficit materno de NEP Glomérulopathie extra-membraneuse néonatale - déficit maternel en NEP Neonatal membranous glomerulopathy with maternal NEP deficiency hrdo:pat_id_1294 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 100300 614219 614814 C538225 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Adams+oliver%5Btw%5D+OR+%28%28cutis+marmorata+telangiectatica%5Btw%5D+OR+aplasia+cutis+congenita%5Btw%5D%29+Limb+Deformities%2C+Congenital%29 Q87.2 974 34748004 C0265268 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown AOS Anomalie congénitale du cuir chevelu - anomalies distales des membres Anomalie congénitale du cuir chevelu - réduction distale des membres Anomalie degli arti, del cranio e del cuoio capelluto Anomalies des membres, du crâne et du cuir chevelu Anomalías de los miembros, del cráneo y del cuero cabelludo Congenital scalp defects with distal limb anomalies Congenital scalp defects with distal limb reduction anomalies Defeitos nos membros - couro cabeludo - crânio Gliedmaßenanomalien - Schädelanomalien - Kopfhautanomalien Limb, scalp and skull defects Membros - couro cabeludo - crânio, defeitos nos Adams-Oliver syndrome Adams-Oliver-Syndrom Sindrome di Adams-Oliver Syndrome d'Adams-Oliver Síndrome de Adams-Oliver Síndrome de Adams-Oliver hrdo:pat_id_12942 neant Q99.8 97678 malformation syndrome UPD(13)mat UPD(13)mat UPD(13)mat UPD(13)mat UPD(13)mat Disomia uniparentale materna del cromosoma 13 Disomie uniparentale maternelle du chromosome 13 Disomía uniparental materna del cromosoma 13 Dissomia uniparental de origem materna, cromossoma 13 Maternal uniparental disomy of chromosome 13 Uniparentale Disomie 13, maternale hrdo:pat_id_12945 613675 neant Q85.0 97685 clinical subtype Del(17)(q11) Del(17)(q11) Del(17)(q11) Del(17)(q11) Del(17)(q11) Monosomia 17q11 Monosomie 17q11 Monosomie 17q11 Monosomy 17q11 Monosomía 17q11 NF1 microdeletion syndrome NF1-Mikrodeletionssyndrom Neurofibromatose Typ 1-Mikrodeletionssyndrom Neurofibromatosis type 1 microdeletion syndrome Sindrome di NF1 da microdelezione Sindrome di neurofibromatosi tipo 1 da microdelezione Syndrome de microdélétion-NF1 Syndrome de microdélétion-neurofibromatose type 1 Síndrome de microdeleción NF1 Síndrome de microdeleción neurofibromatosis tipo 1 17q11 microdeletion syndrome Deleção 17q11 Mikrodeletionssyndrom 17q11 Sindrome da microdelezione 17q11 Syndrome de microdélétion 17q11 Síndrome de microdeleción 17q11 hrdo:pat_id_12947 609893 614450 neant E03.0 97927 disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Hipotiroidismo por resistência periférica às hormonas da tiroide Hypothyreose durch periphere Resistenz gegen Schilddrüsenhormone Peripheral resistance to thyroid hormones Resistencia periférica a las hormonas tiroideas Resistenza periferica agli ormoni tiroidei Résistance périphérique aux hormones thyroïdiennes hrdo:pat_id_12948 97929 group of phenomes Cardiopatia rara Doença cardíaca, rara Enfermedad cardíaca, rara Herzkrankheit, seltene Maladie cardiaque rare Rare cardiac disease hrdo:pat_id_12954 97935 group of phenomes Doença gastroenterológica rara Enfermedad gastroenterológica rara Gastroenterologische Krankheit, seltene Maladie gastroentérologique rare Malattia gastroenterologica rara Rare gastroenterologic disease hrdo:pat_id_1296 300270 C538051 neant 977 C1846044 disease Adrenomiodistrofia Adrenomiodistrofia Adrenomiodistrofia Adrenomyodystrophie Adrenomyodystrophy Adrénomyodystrophie hrdo:pat_id_12963 97944 group of phenomes Gastroduodenal malformation Gastroduodenale Fehlbildung Malformación gastroduodenal Malformation gastroduodénale Malformazione gastroduodenale congenita Malformação gastroduodenal congénita hrdo:pat_id_12964 97945 group of phenomes Fehlbildung, intestinale Intestinal malformation Malformación intestinal Malformation intestinale Malformazione intestinale Malformação intestinal hrdo:pat_id_1297 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 103285 C538052 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Adult+syndrome%5Btw%5D+OR+Acro+dermato+ungual+lacrimal+tooth%5Btw%5D%29+AND+%28ectrodactyl*+OR+Ectodermal+Dysplasia+OR+TP63%29 Q87.2 978 C1863204 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ADULT (Acro-Dermato-Ungual-Lacrimal-Tooth)-Syndrom Acro-Dermato-Ungual-Lacrimal-Tooth syndrome Acro-dermo-ungueal-lacrimal-dentário, síndrome Alterações pigmentares - ectrodactilia - hipodontia Anomalia della pigmentazione - ectrodattilia - ipodonzia Pigment anomaly - ectrodactyly - hypodontia Pigment anormal - ectrodactylie - hypodontie Pigmentanomalie - Ektrodaktylie - Hypodontia Propping Zerres syndrome Propping-Zerres, síndrome de Propping-Zerres-Syndrom Sindrome acro-dermo-ungueale-lacrimale-dentale Sindrome di Propping-Zerres Syndrome de Propping-Zerres Síndrome acro-dermo-ungueal-lacrimal-dentário Síndrome de Propping Zerres Síndrome de Propping-Zerres ADULT syndrome ADULT-Syndrom Sindrome ADULT Syndrome ADULT Síndrome ADULT Síndrome ADULT hrdo:pat_id_12974 97955 group of phenomes Atemwegskrankheit, seltene Doença respiratória rara Enfermedad respiratoria, rara Maladie respiratoire rare Malattia respiratoria rara Rare respiratory disease hrdo:pat_id_12976 97957 group of phenomes Atemwegs- und Thoraxfehlbildung Malformación torácica y respiratoria Malformation respiratoire ou thoracique Malformazione respiratoria e toracica Malformação respiratória ou torácia Respiratory or thoracic malformation hrdo:pat_id_12980 97962 group of phenomes Doença cirúrgica torácica, rara Enfermedad torácica quirúrgica, rara Maladie rare en chirurgie thoracique Malattia toracica rara d'interesse chirurgico Operationsbedingte Krankheit (Thoraxchirurgie), seltene Rare surgical thoracic disease hrdo:pat_id_12983 97965 group of phenomes Doença cirúrgica torácica, rara Enfermedad cardíaca quirúrgica, rara Maladie rare en chirurgie cardiaque Malattia cardiaca rara d'interesse chirurgico Operationsbedingte Krankheit (Herzchirurgie), seltene Rare surgical cardiac disease hrdo:pat_id_12984 97966 group of phenomes Augenkrankheit, seltene Doença oftalmológica rara Enfermedad ocular, rara Maladie rare de l'œil Malattia oculare rara Rare eye disease hrdo:pat_id_1299 Variabel Variabile Variable Variable Variable Variable Variável neant Q28.1 981 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Agenesia da carótida interna Agenesia de la carótida interna Agenesia della carotide interna Agenesie der Arteria carotis interna Agénésie de la carotide interne Internal carotid agenesis hrdo:pat_id_12996 97978 group of phenomes Doença endócrina rara Endokrine Krankheit, seltene Enfermedad endocrina, rara Maladie endocrinienne rare Malattia endocrina rara Rare endocrine disease hrdo:pat_id_13 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 230000 D005645 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Fucosidosis%5Bmh%5D+OR+Fucosidosis%5Bti%5D E77.1 349 64716005 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Alfa-L-fucosidase, deficiência de Alpha-L-Fucosidase-Mangel Alpha-L-fucosidase deficiency Deficit di alfa-L-fucosidasi Deficiência de alfa-L-fucosidase Déficit de alfa-L-fucosidasa Déficit en alpha-L-fucosidase Fucosidose Fucosidose Fucosidosi Fucosidosis Fucosidosis Fukosidose hrdo:pat_id_1300 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 273250 600171 neant Q55.0 983 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo morphological anomaly 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Agonadia Agénésie testiculaire XY Anorchidia bilaterale Anorquia Assenza congenita dei testicoli Ausência congénita de testículos Desaparecimento testicular, síndrome de ETRS Embryonic testicular regression syndrome Fehlende Hodenanlage Hodenagenesie, kongenitale Regressão testicular, síndrome Sindrome da regressione testicolare (TRS) Sindrome da scomparsa dei testicoli Syndrome du testicule évanescent Síndrome de desaparecimento testicular Síndrome de regresión testicular Síndrome regressão testicular TRS TRS Testikuläres Regressionssyndrom (TRS) Vanishing testes syndrome Vanishing testis syndrome Vanishing-Testes-Syndrom XY gonadal agenesis XY-Gonaden-Agenesie Agenesia gonadal Agenesia gonadal XY Agenesia gonadica XY Anorchie, bilaterale Syndrome de régression testiculaire Testicular regression syndrome hrdo:pat_id_13010 97992 group of phenomes Doença hematológica rara Enfermedad hematológica, rara Hämatologische Krankheit, seltene Maladie hématologique rare Malattia ematologica rara Rare hematologic disease hrdo:pat_id_13022 98004 group of phenomes Doença imune rara Enfermedad inmune, rara Immunkrankheit, seltene Immunopatia rara Maladie immunologique rare Rare immune disease hrdo:pat_id_13024 98006 group of phenomes Maladie rare du système nerveux Rare nervous system disease Alteración neurológica, rara Doença neurológica rara Maladie neurologique rare Malattia neurologica rara Neurologische Krankheit, seltene Rare neurologic disease hrdo:pat_id_13028 98010 128116006 C0597039 group of phenomes Doença infecciosa do sistema nervoso Enfermedad infecciosa del sistema nervioso Infectious disease of the nervous system Infektionskrankheit des Nervensystem Maladie infectieuse du système nerveux Malattia infettiva del sistema nervoso hrdo:pat_id_1303 188740 C535564 neant Q87.2 988 C1861099 malformation syndrome Absent tibia - polydactyly Agenesia della tibia - polidattilia Agenesia tibial polidactilia Agénésie tibiale - polydactylie Ausência de tíbia - polidactilia Polydaktylie - Agenesie der Tibia hrdo:pat_id_1304 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 103300 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28adactylia%5Bti%5D+OR+adactyly%5Bti%5D%29+AND+agloss* Q87.2 989 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Aglossia - adactylia Aglossia - adattilia Aglossie - adactylie Aplasia oromandibular e dos membros Hanhart syndrome Hanhart-Syndrom Hipoplasia oromandibular y de miembros Hypoplasie der Gliedmaßen - oromandibuläre Hypoplasie Jussieu syndrome Sindrome di Hanhart Sindrome di Jussieu Syndrome d'Hanhart Syndrome de Jussieu Síndrome de Hanhart Aglosia - adactilia Aglossia - adactilia Aglossie - Adaktylie Hypoglossia - hypodactyly Hypoglossie - hypodactylie Ipoglossia - ipodattilia hrdo:pat_id_13040 98022 group of phenomes Cefalea rara Cefalea, rara Cefaleia rara Céphalée rare Kopfschmerz, seltene Form Rare headache hrdo:pat_id_13041 98023 group of phenomes Doença sistémica e reumatológica Enfermedad sistémica y reumatológica Maladie systémique ou rhumatologique rare Malattia reumatologica e sistemica Rare systemic or rheumatologic disease Systemische/Rheumatologische Krankheit hrdo:pat_id_13044 98026 group of phenomes Doença odontológica rara Enfermedad odontológica, rara Maladie odontologique rare Malattia odontologica rara Odontologische Krankheit, seltene Rare odontologic disease hrdo:pat_id_13045 98027 group of phenomes Doença rara com manifestações odontológicas Enfermedad rara con manifestación odontológica Maladie rare avec atteinte odontologique Malattia rara con manifestazione odontologica Odontologische Manifestation, seltener Krankheit mit Rare disease with odontological manifestation hrdo:pat_id_13046 98028 group of phenomes Doença do sistema circulatório, rara Enfermedad del sistema circulatorio, rara Herz-Kreislaufsystemstörung, seltene Maladie rare du système circulatoire Malattia rara del sistema circolatorio Rare circulatory system disease hrdo:pat_id_1305 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 202650 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Agnathia+AND+holoprosencephaly%5Bti%5D+OR+dysgnathia+complex%5Btw%5D Q87.8 990 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Agnathia - holoprosencephaly - situs inversus Agnathie - Holoprosenzephalie - Situs inversus Agnathie - holoprosencéphalie - situs inversus Agnatia - holoprosencefalia - situs inversus Agnatia - holoprosencefalia - situs inversus Agnazia - oloprosencefalia - situs inversus hrdo:pat_id_13050 98032 group of phenomes Anästhesiologie, seltene Krankheit der Doença rara em anestesiologia Enfermedades raras en anestesiología Maladie rare en anesthésiologie Malattia rara d'interesse anestesiologico Rare disease in anaesthesiology hrdo:pat_id_13051 98033 group of phenomes Doença psiquiátrica rara Enfermedad psiquiátrica, rara Maladie neurologique rare avec atteinte psychiatrique Malattia psichiatrica rara Psychiatrische Krankheit, seltene Rare neurologic disease with psychiatric involvement hrdo:pat_id_13054 98036 group of phenomes Doença otorrinolaringológica, rara Enfermedad otorrinolaringológica, rara Maladie othorinolaryngologique rare Malattia d'interesse otorinolaringoiatrico rara Otorhinolaryngologische Krankheit, seltene Rare otorhinolaryngologic disease hrdo:pat_id_13056 98038 group of phenomes Cranial malformation Fehlbildung, kraniale Malformación craneal Malformation crânienne Malformazione cranica Malformação do crânio hrdo:pat_id_13057 98039 group of phenomes Digestive tract malformation Fehlbildung des Verdauungstrakts Malformación del tracto digestivo Malformation du tube digestif Malformazione del tratto digestivo Malformação do sistema digestivo hrdo:pat_id_13059 98041 group of phenomes Fehlbildung, viszerale: Leber, Gallengänge, Pankreas, Milz Malformación visceral: hígado, vías biliares, páncreas, bazo Malformation viscérale du foie, des voies biliaires, du pancréas ou de la rate Malformazioni degli organi: fegato, tratto biliare, pancreas, milza Malformação visceral: fígado, trato biliar, pâncreas, baço Visceral malformation of the liver, biliary tract, pancreas or spleen hrdo:pat_id_1306 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 202660 600908 neant Q87.8 991 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Kennerknecht syndrome Kennerknecht, síndrome de Kennerknecht-Syndrom Lungenhypoplasie-Agonadismus-Dextrokardie-Zwerchfellhernie-Syndrom Pulmonary hypoplasia - agonadism - dextrocardia - diaphragmatic hernia syndrome Sindrome di Kennerknecht Sindrome ipoplasia polmonare-agonadismo-destrocardia-ernia diaframmatica Syndrome d'hypoplasie pulmonaire - agonadisme - dextrocardie - hernie diaphragmatique Syndrome de Kennerknecht Síndrome de Kennerknecht Síndrome de Kennerknecht Síndrome de hipoplasia pulmonar - agonadismo - dextrocardia - hernia diafragmática Agonadismo - dextrocardia - hérnia diafragmática PAGOD syndrome PAGOD-Syndrom Sindrome PAGOD Syndrome PAGOD Síndrome PAGOD hrdo:pat_id_13061 98043 group of phenomes Diaphragmatic or abdominal wall malformation Malformación diafragmática y de la pared abdominal Malformation du diaphragme ou de la paroi abdominale Malformazione della parete addominale o diaframmatica Malformação diafragmática e da parede abdominal Zwerchfell- und Bauchwandfehlbildung hrdo:pat_id_13062 neant 98044 group of phenomes Central nervous system malformation Malformación del sistema nervioso central Malformation du système nerveux central Malformazione del sistema nervoso centrale Malformação do sistema nervoso central ZNS-Fehlbildung hrdo:pat_id_13063 98045 group of phenomes Atemwegs- oder Mediastinum-Fehlbildung Malformación respiratoria o mediastínica Malformation respiratoire et du médiastin Malformazione del mediastino o dell'apparato respiratorio Malformação respiratória ou mediastínica Respiratory or mediastinal malformation hrdo:pat_id_13065 98047 group of phenomes Doença de infertilidade, rara Infertilidad, enfermedad rara Infertilität, seltene Infertilité rare Rare infertility disease Sterilità rara hrdo:pat_id_13066 neant N46 98048 group of phenomes Infertilidad masculina, rara Infertilidade masculina rara Infertilität, männliche, seltene Infertilité masculine rare Rare male infertility Sterilità maschile rara hrdo:pat_id_13067 98049 group of phenomes Infertilidad femenina, rara Infertilidade feminina rara Infertilität, weibliche, seltene Infertilité féminine rare Rare female infertility Sterilità femminile rara hrdo:pat_id_13068 98050 group of phenomes Allergie rare Allergische Krankheit, seltene Doença alérgica rara Enfermedad alérgica, rara Malattia allergica rara Rare allergic disease hrdo:pat_id_13070 98052 group of phenomes Allergie respiratoire rare Atemwegskrankheit, allergische, seltene Doença alérgica respiratória, rara Enfermedad alérgica respiratoria, rara Malattia da allergia respiratoria rara Rare allergic respiratory disease hrdo:pat_id_13071 98053 group of phenomes Doença genética Enfermedad genética Krankheit, genetisch bedingte Maladie génétique rare Malattia genetica rara Rare genetic disease hrdo:pat_id_13072 98054 group of phenomes Doença genética cardíaca Enfermedad cardíaca, genética Herzkrankheit, genetisch bedingte Maladie cardiaque génétique rare Malattia cardiaca genetica rara Rare genetic cardiac disease hrdo:pat_id_13074 98056 group of phenomes Doença genética renal Enfermedad renal, genética Maladie rénale génétique rare Malattia renale genetica rara Nierenkrankheit, genetisch bedingte Rare genetic renal disease hrdo:pat_id_13075 98057 group of phenomes Cancer rare Néoplasie rare Rare cancer Rare neoplasm Rare tumor Tumeur rare Tumor raro Tumor, raro Tumor, seltener Tumore raro hrdo:pat_id_13076 98058 group of phenomes Cancer rare des voies urinaires Néoplasie rare des voies urinaires Rare urinary tract cancer Rare urinary tract neoplasm Harntrakttumor, seltener Rare urinary tract tumor Tumeur rare de l'appareil urinaire Tumor del tracto urinario, rara Tumor do trato urinário, raro Tumore raro del tratto urinario hrdo:pat_id_13077 98059 group of phenomes Cancer digestif rare Néoplasie digestive rare Rare digestive cancer Rare digestive neoplasm Rare digestive tumor Tumeur rare de l'appareil digestif Tumor des Verdauungstrakts, seltener Tumor digestivo raro Tumor digestivo, raro Tumore raro dell'apparato digestivo hrdo:pat_id_13078 98060 group of phenomes Cancer respiratoire rare Néoplasie respiratoire rare Rare respiratory cancer Rare respiratory neoplasm Atemwegstumor, seltener Rare respiratory tumor Tumeur respiratoire rare Tumor respiratorio, raro Tumor respiratório raro Tumore raro dell'apparato respiratorio hrdo:pat_id_13079 98061 group of phenomes Cancer ORL rare Néoplasie ORL rare Rare ORL cancer Rare ORL neoplasm Rare ORL tumor Tumeur ORL rare Rare otorhinolaryngologic tumor Tumeur otorhinolaryngologique rare Tumor otorrinolaringológico raro Tumor otorrinolaringológico, raro Tumor, otorhinolaryngologischer, seltener Tumore d'interesse otorinolaringoiatrico raro hrdo:pat_id_13080 98062 group of phenomes Néoplasie rare du système nerveux Rare nervous system neoplasm Rare nervous system tumor Seltener Tumor des Nervensystems Tumeur rare du système nerveux Tumor del sistema nervioso, raro Tumor do sistema nervoso, raro Tumore raro del sistema nervoso hrdo:pat_id_13081 98063 group of phenomes Cancer gynécologique rare Néoplasie gynécologique rare Rare gynaecological cancer Rare gynaecological neoplasm Rare gynecological tumor Seltener gynäkologischer Tumor Tumeur gynécologique rare Tumor ginecológico raro Tumor ginecológico, raro Tumore ginecologico raro hrdo:pat_id_13082 98064 group of phenomes Doença rara em medicina física ou reabilitação Maladie rare en kinésithérapie et réadaptation Malattia rara nella fisioterapia e riabilitazione Medicina física y rehabilitación, enfermedad rara en Physikalische Medizin und Rehabilitation, seltene Krankheit der Rare disease in physical medicine and rehabilitation hrdo:pat_id_13083 98065 group of phenomes Neurochirurgie Neurosurgery Doença cirúrgica neurológica, rara Enfermedad neurológica quirúrgica rara Maladie neurochirurgicale rare Malattia neurochirurgica rara Rare surgical neurologic disease Seltene Krankheit der Neurochirurgie hrdo:pat_id_13084 98066 group of phenomes Cirugía plástica y reconstructiva, enfermedad rara en Doença rara em cirurgia plástica ou reconstrutiva Maladie rare en chirurgie plastique et reconstructrice Malattia rara nella chirugia plastica e ricostruttiva Operationsbedingte Krankheit (Plastische und Rekonstruktive Chirurgie), seltene Rare disease in plastic and reconstructive surgery hrdo:pat_id_13085 98067 group of phenomes Chirurgie orthopédique Orthopaedic surgery Doença cirúrgica ortopédica, rara Enfermedad ortopédica quirúrgica, rara Maladie rare en chirurgie orthopédique Malattia ortopedica d'interesse chirurgico rara Rare disease in surgical orthopedic Seltene Krankheit der Orthopädische Chirurgie hrdo:pat_id_13086 98068 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate group of phenomes Atassia spinocerebellare da anomalia delle poliglutamine Ataxia espinocerebelosa, autossómica dominante, por anomalia de poliglutaminas Ataxia, espinocerebelosa, debido a una anomalía de la poliglutamina Ataxie spinocérébelleuse autosomique dominante due à une anomalie de la polyglutamine Ataxie, spinozerebelläre, bei Polyglutamin-Anomalie Autosomal dominant spinocerebellar ataxia due to a polyglutamine anomaly hrdo:pat_id_13087 98069 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate group of phenomes Atassia spinocerebellare da canalopatia Ataxia espinocerebelosa, autossómica dominante, por canalopatia Ataxia, espinocerebelosa, debido a una canelopatía Ataxie spinocérébelleuse autosomique dominante due à une canalopathie Ataxie, spinozerebelläre, bei Ionenkanalkrankheit Autosomal dominant spinocerebellar ataxia due to a channelopathy hrdo:pat_id_13088 98070 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate group of phenomes Atassia spinocerebellare da ripetute espansioni che non codificano per poliglutamine Ataxia espinocerebelosa, autossómica dominante, por expansões repetitivas que não codificam poliglutaminas Ataxia, espinocerebelosa, debido a expansiones repetidas que no codifican para poliglutamina Ataxie spinocérébelleuse autosomique dominante due à des expansions non codantes pour la polyglutamine Ataxie, spinozerebelläre, bei Repeat-Expansionen, die nicht Polyglutamin betreffen Autosomal dominant spinocerebellar ataxia due to repeat expansions that do not encode polyglutamine hrdo:pat_id_13089 98071 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate group of phenomes Atassia spinocerebellare da mutazione puntiforme Ataxia espinocerebelosa, autossómica dominante, por mutação pontual Ataxia, espinocerebelosa, debido a una mutación puntual Ataxie spinocérébelleuse autosomique dominante due à une mutation ponctuelle Ataxie, spinozerebelläre, bei Punktmutationen Autosomal dominant spinocerebellar ataxia due to a point mutation hrdo:pat_id_1309 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 225750 610181 610329 610333 612952 615010 C535607 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Aicardi+Goutieres%5Btw%5D+OR+%28encephalopathy+AND+calcification*+AND+lymphocytosis%29 G31.8 51 230312006 C0393591 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Basalganglien-Enzephalopathie, kalzifizierende Encefalopatia - calcificazione dei gangli basali Encefalopatia con calcificazione intracranica e linfocitosi cronica del liquido cerebrospinale Encefalopatía - calcificación de los ganglios basales Encefalopatía con calcificaciones intracraneales y linfocitosis crónica del líquido cefalorraquídeo Encephalopathy with basal ganglia calcification Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid Encéphalopathie - calcification des ganglions basaux Encéphalopathie familiale avec calcifications intra-crânienne et lymphocytose chronique du LCR Enzephalopathie mit intrakranialer Verkalkung und chronischer CSF-Lymphozytose Aicardi-Goutieres syndrome Aicardi-Goutières-Syndrom Sindrome di Aicardi-Goutières Syndrome d'Aicardi-Goutières Síndrome de Aicardi-Goutieres Síndrome de Aicardi-Goutieres hrdo:pat_id_13091 98073 group of phenomes Atassia spinocerebellare, autosomica dominante, dovuta ad altre cause Ataxia espinocerebelosa autossómica dominante, por outras causas Ataxia espinocerebelosa autosómica dominante debido a otras causas Ataxie spinocérébelleuse autosomique dominante non classifiée Ataxie, spinozerebelläre, autosomal-dominante, durch sonstige Ursachen Unclassified autosomal dominant spinocerebellar ataxia hrdo:pat_id_13092 98074 group of phenomes Diferenciación gonadal Doença da diferenciação gonadal Dysgénésie gonadique d'intérêt gynécologique Gonadal dysgenesis of gynecological interest Gonadendifferenzierung, Störung der Malattia della differenziazione gonadica hrdo:pat_id_13096 98078 group of phenomes 46,XX DSD induced by androgens excess ADS 46,XX induite par un excès d'androgènes DSD 46,XX induite par un excès d'androgènes 46,XX disorder of sex development induced by androgens excess Anomalias do desenvolvimento sexual 46,XX induzida pelo androgénio Anomalie du développement sexuel 46,XX induite par un excès d'androgènes Desarrollo sexual inducido por andrógenos, 46, XX Malattia dello sviluppo sessuale da androgeni 46,XX Störung der Geschlechtsentwicklung 46,XX, Androgen-induzierte hrdo:pat_id_131 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Variabel Variabile Variable Variable Variable Variable Variável 309900 D016532 10056889 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=mucopolysaccharidosis+ii%5Btw%5D+OR+hunter+dis*%5Bti%5D+OR+hunter+synd*%5Bti%5D+OR+mucopolysaccharidosis+ii%5Bmh%5D E76.1 580 70737009 C0026705 C2718304 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Deficit di iduronato 2-solfatasi Deficiência de iduronato 2-sulfatase Déficit de iduronato 2-sulfatasa Déficit en iduronate 2-sulfatase Enfermedad de Hunter Hunter syndrome Hunter, síndrome de Hunter-Krankheit Iduronat 2-Sulfatase-Mangel Iduronate 2-sulfatase deficiency Iduronato 2-sulfatase, deficiência de Maladie de Hunter Malattia di Hunter Síndrome de Hunter Mucopolisacaridosis tipo 2 Mucopolisaccaridosi, tipo 2 Mucopolissacaridose tipo 2 (MPS2) Mucopolysaccharidose type 2 Mucopolysaccharidosis type 2 Mukopolysaccharidose Typ 2 hrdo:pat_id_1310 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 208150 300073 neant Q87.8 994 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Arthrogrypose multiple congénitale - hypoplasie pulmonaire Arthrogryposis multiplex congenita - Lungenhypoplasie Arthrogryposis multiplex congenita - pulmonary hypoplasia Artrogriposi multipla congenita - ipoplasia polmonare Artrogriposis múltiple congénita - hipoplasia pulmonar FADS FADS FADS FADS Pena-Shokeir syndrome type 1 Pena-Shokeir-Syndrom Typ 1 Sindrome di Pena-Shokeir, tipo 1 Syndrome de Pena-Shokeir type 1 Síndrome de Pena-Shokeir tipo 1 Fetal akinesia deformation sequence Fetale Akinesie/Hypokinesie-Sequenz Secuencia deformante de aquinesia fetal Sequenza dell'acinesia fetale Sequência de acinesia fetal Séquence d'akinésie foetale hrdo:pat_id_13103 D058490 neant 98085 C2751824 group of phenomes 46,XY DSD 46,XY DSD ADS 46,XY TDS 46,XY 46,XY disorder of sex development Anomalie du développement sexuel 46,XY Disturbo dello sviluppo sessuale 46,XY Doença do desenvolvimento sexual 46,XY Störung der Geschlechtsentwicklung 46,XY Trastorno del desarrollo sexual 46, XY hrdo:pat_id_13104 neant 98086 group of phenomes 46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue Anomalie du développement sexuel 46,XY associée à un défaut du métabolisme périphérique de testostérone Desarrollo sexual, trastorno 46, XY debido a un defecto en el metabolismo de la testosterona por los tejidos periféricos Disturbo dello sviluppo sessuale 46,XY da difetti del metabolismo periferico del testosterone Doença do desenvolvimento sexual 46,XY por deficiência no metabolismo da testoterona do tecido periférico Störung der Geschlechtsentwicklung 46,XY, durch Defekt des Testosteron-Stoffwechsels im peripheren Gewebe hrdo:pat_id_13105 neant 98087 group of phenomes Syndrome avec ADS 46,XY Syndrome avec DSD 46,XY Syndrome with 46,XY DSD Anomalia disgenética do desenvolvimento sexual 46,XY Disturbo disgenetico dello sviluppo sessuale 46,XY Störung der Geschlechtsentwicklung 46,XY, dysgenetische Syndrome avec anomalie du développement sexuel 46,XY Syndrome with 46,XY disorder of sex development Trastorno del desarrollo sexual 46,XY, disgenético hrdo:pat_id_13113 98095 group of phenomes Atassia cerebellare congenita, autosomica recessiva Ataxia cerebelosa congénita autossómica recessiva Ataxia, cerebelosa, autosómica recesiva, congénita Ataxie cérébelleuse congénitale autosomique récessive Ataxie, zerebelläre, autosomal-rezessive, kongenitale Autosomal recessive congenital cerebellar ataxia hrdo:pat_id_13114 98096 group of phenomes Atassia cerebellare metabolica, autosomica recessiva Ataxia cerebelosa metabólica autossómica recessiva Ataxia, cerebelosa, metabólica, autosómica recesiva Ataxie cérébelleuse autosomique récessive d'origine métabolique Ataxie, zerebelläre, autosomal-rezessive, metabolische Autosomal recessive metabolic cerebellar ataxia hrdo:pat_id_13115 neant G11.3 98097 group of phenomes Atassia cerebellare, autosomica recessiva, da difetti nel riparo di DNA Ataxia cerebelosa, autossómica recessiva, por defeito na reparação do ADN Ataxia, cerebelosa, autosómica recesiva debido a un defecto de reparación del ADN Ataxie cérébelleuse autosomique récessive due à une anomalie de réparation de l'ADN Ataxie, zerebelläre, autosomal-rezessive, bei DNA-Reparaturdefekt Autosomal recessive cerebellar ataxia due to a DNA repair defect hrdo:pat_id_13116 98098 group of phenomes Atassia cerebellare degenerativa e progressiva, autosomica recessiva Ataxia cerebelosa, autossómica recessiva, degenerativa e progressiva Ataxia, cerebelosa, degenerativa y progresiva, autosómica recesiva Ataxie cérébelleuse dégénérative et progressive autosomique récessive Ataxie, zerebelläre, autosomal-rezessive, degenerative und progressive Autosomal recessive degenerative and progressive cerebellar ataxia hrdo:pat_id_13117 98099 group of phenomes Atassia cerebellare sindromica, autosomica recessiva Ataxia cerebelosa sindrómica, autossómica recessiva Ataxia, cerebelosa, sindrómica, autosómica recesiva Ataxie cérébelleuse autosomique récessive syndromique Ataxie, zerebelläre, autosomal-rezessive, syndromale Autosomal recessive syndromic cerebellar ataxia hrdo:pat_id_13119 98101 group of phenomes '''Pore-loop''-Ionenkanalkrankheit' 'Canalopatia ''pore-loop''' Canalopathie ''pore-loop'' Canalopatia ''pore-loop'' Canalopatía Poro bucle Pore-loop channelopathy hrdo:pat_id_13120 98102 group of phenomes Canalopathie associée à un défaut du canal potassique rectifieur entrant Canalopatia da difetti del canale del potassio rettificatore inverso Canalopatia por deficiência no canal de potássio retificador de entrada Canalopatía debido a un defecto del canal de potasio por rectificación interna Channelopathy due to an inwardly rectifying potassium channel defect Ionenkanalkrankheit bei Defekt von einwärtsgleichrichtenden Kaliumkanälen hrdo:pat_id_13121 98103 group of phenomes Canalopathie associée à un défaut du canal potassique voltage-dépendant Canalopatia da difetti del canale del potassio voltaggio-dipendente Canalopatia por deficiência no canal de potássio dependente da voltagem Canalopatía debido a un defecto de voltaje en el canal de potasio Channelopathy due to a voltage-gated potassium channel defect Ionenkanalkrankheit bei Defekt von spannungsabhängigen Kaliumkanälen hrdo:pat_id_13122 98104 group of phenomes Canalopathie associée à un défaut du canal TRP Canalopatia da difetto transitorio della ricezione del potenziale del canale Canalopatia por deficiência do canal TRP Canalopatía debido a un defecto potencial de los receptores de canales de potasio Channelopathy due to a transient receptor potential channel defect Ionenkanalkrankheit bei Defekt von TRP (transient receptor potential)-Kationenkanälen hrdo:pat_id_13123 98105 group of phenomes Canalopathie associée à un défaut du canal-nucléotide cyclique dépendant Canalopatia da canali ionici ciclici nucleotidi-dipendenti Canalopatia por canais iónicos, mediados por nucleótidos ciclicos Canalopatía debido a canales ionicos activados por nucleótidos cíclicos Channelopathy due to cyclic nucleotide-gated ion channels Ionenkanalkrankheit bei Defekt von zyklonukleotid-aktivierten Kationenkanälen hrdo:pat_id_13124 98106 group of phenomes Canalopathie associée à un défaut du canal potassique activé par le calcium Canalopatia da difetti del canale del potassio calcio-dipendente Canalopatia por deficiência do canal de potássio activado pelo cálcio Canalopatía debido a un defecto en el canal de potasio activado por calcio Channelopathy due to a calcium-activated potassium channel defect Ionenkanalkrankheit bei Defekt von Kalzium-aktivierten Kaliumkanälen hrdo:pat_id_13125 98107 group of phenomes Canalopathie associée à un défaut du canal sodique voltage-dépendant Canalopatia da difetti del canale del sodio voltaggio-dipendente Canalopatia por deficiência do canal de sódio dependente de voltagem Canalopatía debido a un defecto en los canales de sodio dependientes de voltaje Channelopathy due to a voltage-gated sodium channel defect Ionenkanalkrankheit bei Defekt von spannungsabhängigen Natriumkanälen hrdo:pat_id_13126 98108 group of phenomes Canalopathie associée à un défaut du canal calcique voltage-dépendant Canalopatia da difetti del canale del calcio voltaggio-dipendente Canalopatia por deficiência do canal de cálcio dependente de voltagem Canalopatía debido a un defecto en los canales de calcio dependientes de voltaje Channelopathy due to a voltage-gated calcium channel defect Ionenkanalkrankheit bei Defekt von spannungsabhängigen Kalziumkanälen hrdo:pat_id_13127 98109 group of phenomes 'Canalopatia não-''pore-loop''' Canalopathie ''non-pore -loop'' Canalopatia non ''pore-loop'' Canalopatía, no poro-bucle Ionenkanalkrankheit, nicht ''Pore-loop''' Non-pore-loop channelopathy hrdo:pat_id_13128 98110 group of phenomes Canalopathie associée à un défaut du canal sodique epithélial Canalopatia da difetti del canale epiteliale del sodio Canalopatia por deficiência do canal de sódio epitelial Canalopatía debido a un defecto del canal de sodio epitelial Channelopathy due to an epithelial sodium channel defect Ionenkanalkrankheit bei epithelialem Natriumkanaldefekt hrdo:pat_id_13129 98111 group of phenomes Canalopathie associée à un défaut du canal de relargage du calcium du réticulum sarcoplasmique du muscle squelettique Canalopatia da difetti del canale di rilascio del calcio del reticolo sarcoplasmatico nei muscoli scheletrici Canalopatia por deficiência do canal libertador de cálcio, do reticulo endoplasmático, do músculo esquelético Canalopatía debido a un defecto de los canales liberadores de calcio del retículo endoplasmático del músculo Channelopathy due to a skeletal muscle sarcoplasmic reticulum calcium release channel defect Ionenkanalkrankheit bei Defekt von Ca-Freisetzungskanälen im sarkoplasmatischen Retikulum des Skelettmuskels hrdo:pat_id_1313 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 600430 C538317 neant Q93.5 1001 C2931817 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Albright hereditary osteodystrophy 3 Albright hereditary osteodystrophy-like syndrome Albright-Osteodystrophie 3, hereditäre Albright-Osteodystrophie-ähnliches Syndrom Brachidattilia - deficit cognitivo Brachydactylie-déficit intellectuel Brachydactyly-intellectual deficit Brachydaktylie - Intelligenzmiderung Braquidactilia - déficit intelectual Del(2)(q37) Del(2)(q37) Del(2)(q37) Del(2)(q37) Del(2)(q37) Deleción 2q37 Deleción 2q37-qter Deletion 2q37 Deletion 2q37 Deletion 2q37-qter Deletion 2q37-qter Delezione 2q37 Delezione 2q37-qter Deleção 2q37 Délétion 2q37 Délétion 2q37-qter Monosomia 2q37-qter Monosomie 2q37-qter Monosomie 2q37-qter Monosomy 2q37-qter Monosomía 2q37-qter Monossomia 2q37 Osteodistrofia ereditaria di Albright, tipo 3 Osteodistrofia hereditaria de Albright tipo 3 Ostéodystrophie héréditaire d'Albright de type 3 Sindrome osteodistrofica ereditaria Albright-simile Síndrome tipo osteodistrofia hereditaria de Albright 2q37 microdeletion syndrome Mikrodeletionssyndrom 2q37 Sindrome da microdelezione 2q37 Syndrome de microdélétion 2q37 Síndrome de Albright-like Síndrome de microdeleción 2q37 hrdo:pat_id_13130 98112 group of phenomes Canalopathie associée à un défaut du canal de relargage du calcium du réticulum sarcoplasmique myocardique Canalopatia da difetti del canale di rilascio del calcio del reticolo sarcoplasmatico nel muscolo cardiaco Canalopatia por deficiência do canal libertador de cálcio, do reticulo endoplasmático, do músculo cardíaco Canalopatía debido a un defecto de los canales liberadores de calcio del retículo sarcoplásmico del músculo cardíaco Channelopathy due to a cardiac muscle sarcoplasmic reticulum calcium release channel defect Ionenkanalkrankheit bei Defekt von Ca-Freisetzungskanälen im sarkoplasmatischen Retikulum des Herzmuskels hrdo:pat_id_13131 98113 group of phenomes 'Canalopatia não-''pore-loop'' por anomalia do canal de Cl- epitelial, CFTR' Canalopathie non ''pore loop'' due à un défaut du canal chlorure épithélial CFTR' Canalopatia da difetti del canale epiteliale del cloruro CFTR Canalopatía debido a un defecto en el canal de cloruro epitelial CFTR Ionenkanalkrankheit bei epithelialem CFTR-Chloridkanaldefekt Non-pore-loop channelopathy due to epithelial Cl- channel CFTR anomaly hrdo:pat_id_13132 98114 group of phenomes 'Canalopathie non ''pore loop'' due à un défaut du canal chlorure épithélial bestrophine' 'Canalopatia não-''pore-loop'' por anomalia do canal de Cl- epitelial, bestrofina' Canalopatia da difetti del canale epiteliale del cloruro bestrofina Canalopatía debido a un defecto en el canal de cloruro epitelial Bestropina Ionenkanalkrankheit bei epithelialem Bestrophin/Chloridikanaldefekt Non-pore-loop channelopathy due to epithelial Cl- channel bestrophin anomaly hrdo:pat_id_13133 98115 group of phenomes 'Canalopathie non ''pore loop'' due à un défaut du canal chlorure du muscle squelettique Clc1' 'Canalopatia não-''pore-loop'' por anomalia do canal de Cl-, do músculo esquelético, Clc1 ' Canalopatia da difetti del canale del cloruro nei muscoli scheletrici Clc1 Canalopatía debido a un defecto en el canal de cloruro Clc1 del músculo esquelético Ionenkanalkrankheit bei skeletomuskulärem ClC1-Chloridkanaldefekt Non-pore-loop channelopathy due to Cl- channel skeletal muscle Clc1 anomaly hrdo:pat_id_13134 98116 group of phenomes 'Canalopathie non ''pore loop'' due à un défaut du canal chlorure Clc2' 'Canalopatia não-''pore-loop'' por anomalia do canal de Cl-, Clc2' Canalopatia da difetti del canale del cloruro Clc2 Canalopatía debido a un defecto en el canal de cloruro Clc2 Ionenkanalkrankheit bei ClC2-Chloridkanaldefekt Non-pore-loop channelopathy due to Cl- channel Clc2 anomaly hrdo:pat_id_13135 98117 group of phenomes 'Canalopathie non ''pore loop'' due à un défaut du transporteur rénal de chlorure Clc5' 'Canalopatia não-''pore-loop'' por anomalia do transportador hepático de cloreto, Clc5' Canalopatia da difetti del trasportatore del cloruro nei reni Clc5 Canalopatía debido a un defecto en el trasnsportador de cloruro Clc5 renal Ionenkanalkrankheit bei ClC5-Chlorid-Transporterdefekt der Niere Non-pore-loop channelopathy due to Cl- transporter kidney Clc5 anomaly hrdo:pat_id_13136 98118 group of phenomes 'Canalopathie non ''pore loop'' due à un défaut du transporteur de chlorure Clc7' 'Canalopatia não-''pore-loop'' por anomalia do transportador de cloreto Clc7' Canalopatia da difetti del trasportatore del cloruro Clc7 Canalopatía debido a un defecto en el trasnsportador de cloruro Clc7 Ionenkanalkrankheit bei ClC7-Chlorid-Transporterdefekt Non-pore-loop channelopathy due to Cl- transporter Clc7anomaly hrdo:pat_id_13137 98119 group of phenomes 'Canalopatia não-''pore-loop'' por anomalia dos canais de Cl- renais, Cicka e Cickb ' Canalopathie non ''pore loop'' due à un défaut du canal chlorure rénal CLCKA et CLCKB Canalopatia da difetti del canale del cloruro nei reni CLCKA e CLCKB Canalopatía debido a un defecto de los canales de cloruro CLC-Ka and CLC-Kb Ionenkanalkrankheit bei CLC-Ka- und CLC-Kb-Chloridkanaldefekt der Niere Non-pore-loop channelopathy due to Cl- channels kidney CLCKA and CLCKB anomaly hrdo:pat_id_13138 98120 group of phenomes 'Canalopathie non ''pore loop'' due à un défaut du canal chlorure barttine' 'Canalopatia não-''pore-loop'' por anomalia do canal de Cl-, barttin' Canalopatia da difetti del canale del cloruro barttin Canalopatía debido a un defecto en el canal de cloruro Barttina Ionenkanalkrankheit bei Barttin/Chloridkanaldefekt Non-pore-loop channelopathy due to Cl- channel barttin anomaly hrdo:pat_id_13139 98121 group of phenomes 'Canalopatia del recettore ''cys-loop''' 'Canalopatia do recetor ''cys-loop''' Canalopathie des récepteurs ''cys-loop'' Canalopatía, del receptor bucle-Cys Cys-loop receptor channelopathy Ionenkanalkrankheit bei Cys-Loop-Rezeptordefekt hrdo:pat_id_1314 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 103580 612462 612463 C537045 neant E20.1 Q78.1 665 58833000 C2931404 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Albright hereditary osteodystrophy Osteodistrofia ereditaria di Albright Osteodistrofia hereditaria de Albright Osteodistrofia hereditária de Albright Osteodystrophie, hereditäre Albright'sche Ostéodystrophie héréditaire d'Albright hrdo:pat_id_13140 98122 group of phenomes Canalopathie associée à un défaut du recepteur neuronal de la glycine Canalopatia da difetti del recettore neuronale della glicina Canalopatia por deficiência do recetor neuronal da glicina Canalopatía debido a un defecto del receptor de glicina neuronal Channelopathy due to a neuronal glycine receptor defect Ionenkanalkrankheit bei neuronalem Glycin-Rezeptordefekt hrdo:pat_id_13141 98123 group of phenomes Canalopathie associée à un défaut du recepteur neuronal GABA rénal Canalopatia da difetti del recettore neuronale e renale del GABA Canalopatia por deficiência do recetor neuronal GABA, do rim Canalopatía debido a un defecto de los los receptores neuronales GABA renales Channelopathy due to a neuronal kidney GABA receptor defect Ionenkanalkrankheit bei neuronalem GABA-Rezeptordefekt hrdo:pat_id_13142 98124 group of phenomes Canalopathie associée à un défaut du recepteur musculaire à l'acétylcholine Canalopatia da difetti del recettore Ach nel muscolo scheletrico Canalopatia por deficiência do recetor da acetilcolina do músculo esquelético Canalopatía debido a un defecto del receptor Ach del músculo esquelético Channelopathy due to a skeletal muscle acetylcholine receptor defect Ionenkanalkrankheit bei skeletomuskulärem ACh-Rezeptordefekt hrdo:pat_id_13143 98125 group of phenomes Canalopathie associée à un défaut du recepteur neuronal à l'acétylcholine Canalopatia da difetti del recettore neuronale Ach Canalopatia por deficiência do recetor da acetilcolina neuronal Canalopatía debido a un defecto de los receptores neuronales Ach Channelopathy due to a neuronal acetylcholine receptor defect Ionenkanalkrankheit bei neuronalem ACh-Rezeptordefekt hrdo:pat_id_13145 98127 group of phenomes Anomalia autosoma Anomalia autossómica Anomalie des autosomes Anomalía autosómica Autosomal anomaly Autosomen-Anomalie hrdo:pat_id_13148 98130 group of phenomes Autosomal duplication Autosomale Duplikation Duplicación autosómica Duplications des autosomes Duplicazione autosomica Autosomal trisomy Trisomia autosomica Trisomie, autosomale Trisomies des autosomes Trisomía autosómica Trissomia hrdo:pat_id_13149 98131 group of phenomes Total autosomal trisomy Trisomia autosomica totale Trisomie, autosomale komplette Trisomies totales des autosomes Trisomía total de los autosomas Trissomia total hrdo:pat_id_1315 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300523 C537047 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Allan+Herndon%5Btw%5D E03.8 59 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 AHDS AHDS AHDS AHDS AHDS Atraso mental ligado ao X - hipotonia Déficit de MCT8 Déficit del transportador de monocarboxilato 8 Déficit en MCT8 Déficit en transporteur 8 de monocarboxylate Déficit intelectual ligado al X - hipotonía Déficit intellectuel lié à l'X - hypotonie Geistige Retardierung, X-chromosomale - Muskelhypotonie MCT8 deficiency Monocarboxylate transporter 8 deficiency Ritardo mentale legato all'X - ipotonia X-linked intellectual deficit - hypotonia Allan-Herndon-Dudley syndrome Allan-Herndon-Dudley-Syndrom Sindrome di Allan-Herndon-Dudley Syndrome d'Allan-Herndon-Dudley Síndrome de Allan-Herndon Síndrome de Allan-Herndon-Dudley hrdo:pat_id_13150 98132 group of phenomes Partial autosomal trisomy/tetrasomy Trisomia/tetrasomia autosomica parziale Trisomie/Tetrasomie, autosomale partielle Trisomies/tétrasomies partielles des autosomes Trisomía / tetrasomía parcial de los autosomas Trissomia parcial hrdo:pat_id_13159 neant Q93.0 Q93.1 98141 group of phenomes Monosomia autosomica totale Monosomie, autosomale totale Monosomies totales des autosomes Monosomía total de los autosomas Monossomia total Total autosomal monosomy hrdo:pat_id_1316 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 181250 C536622 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=scalp+defects+postaxial+polydactyly Q87.2 1003 C1867021 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Alopecia circoscritta - polidattilia Alopecia circunscrita polidactilia Alopécie circonscrite - polydactylie Defeitos no couro cabeludo - polidactilia pós-axial Scalp defects - postaxial polydactyly Skalpdefekte - postaxiale Polydaktylie hrdo:pat_id_13160 neant Q93.3 Q93.4 Q93.5 98142 group of phenomes Autosomale Deletion, partielle Deleción parcial de los autosomas Delezione autosomica parziale Délétions partielles des autosomes Partial autosomal deletion Monosomia autosomica parziale Monosomie, autosomale partielle Monosomies partielles des autosomes Monosomía parcial de los autosomas Monossomia parcial Partial autosomal monosomy hrdo:pat_id_13170 neant Q99.8 98152 group of phenomes Autosomal uniparental disomy Disomia uniparentale autosomica Disomie uniparentale des autosomes Disomía autosómica uniparental Dissomia uniparental Uniparentale Disomie, autosomale hrdo:pat_id_13171 neant Q99.8 98153 group of phenomes Disomia uniparentale di origine materna Disomie uniparentale d'origine maternelle Disomía uniparental de origen materno Dissomia uniparental de origem materna Uniparental disomy of maternal origin Uniparentale Disomie, maternale hrdo:pat_id_13172 neant Q99.8 98154 group of phenomes Disomia uniparentale di origine paterna Disomie uniparentale d'origine paternelle Disomía uniparental de origen paterno Dissomia uniparental de origem paterna Uniparental disomy of paternal origin Uniparentale Disomie, paternale hrdo:pat_id_13173 98155 group of phenomes Anomalia dei cromosomi sessuali Anomalie der Geschlechtschromosomen Anomalies des chromosomes sexuels Anomalías en los cromosomas sexuales Sex-chromosomes anomaly Anomalia dei gonosomi Anomalia dos gonossomas Anomalies des gonosomes Anomalía gonosómica Gonosomen-Anomalie Gonosomes anomaly hrdo:pat_id_13174 98156 group of phenomes Anomale Anzahl der Geschlechtschromosomen Anomalia del numero dei cromosomi sessuali Anomalie de nombre des chromosomes sexuels Anomalías en el número de cromosomas sexuales Sex-chromosomes number anomaly Anomalia del numero dei gonosomi Anomalia numérica dos gonossomas Anomalie de nombre des gonosomes Anomalie der Gonosomenanzahl Anomalías en el número de gonosomas Gonosomes number anomaly hrdo:pat_id_13175 98157 group of phenomes Anomale Struktur der Geschlechtschromosomen Anomalia della struttura dei cromosomi sessuali Anomalie de structure des chromosomes sexuels Anomalías estructurales de los cromosomas sexuales Sex-chromosomes structural anomaly Anomalia della struttura dei gonosomi Anomalia estrutural dos gonossomas Anomalie de structure des gonosomes Anomalie der Gonosomenstuktur Anomalías estructurales de los gonosomas Gonosomes structural anomaly hrdo:pat_id_13176 neant Q98.6 98158 group of phenomes Anomalia estrutural do cromossoma Y Anomalia strutturale del cromosoma Y Anomalie de structure du chromosome Y Anomalía estructural del cromosoma Y Chromosom Y mit Strukturanomalität Chromosome Y structural anomaly hrdo:pat_id_13177 neant Q99.8 98159 group of phenomes Anomalia estrutural do cromossoma X Anomalia strutturale del cromosoma X Anomalie de structure du chromosome X Anomalía estructural del cromosoma X Chromosom X mit Strukturanomalität Chromosome X structural anomaly hrdo:pat_id_1318 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 203550 C537051 Q87.8 1005 C0795895 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Alopecia - contracturas - enanismo - déficit intelectual Alopecia - contractures - dwarfism - intellectual deficit Alopecia - contratture - nanismo - ritardo mentale Alopezie - Kontrakturen - Kleinwuchs - geistige Retardierung Alopécie - contractures - nanisme - déficit intellectuel Síndrome alopecia - contracturas - nanismo - atraso mental hrdo:pat_id_13185 98167 group of phenomes Diabete associato a neoplasia Diabetes asociada a neoplasia Diabetes associado a neoplasia do pâncreas exócrino Diabetes associated to exocrine pancreas neoplasia Diabetes in Assoziation zu Neoplasie Diabète associé à une tumeur du pancréas exocrine hrdo:pat_id_132 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Variabel Variabile Variable Variable Variable Variable Variável D008059 10056886 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28mucopolysaccharidosis+i%5Btw%5D+NOT+medline%5Bsb%5D%29+OR+%22mucopolysaccharidosis+i%22%5BMeSH+Terms%5D E76.0 579 75610003 C0023786 C2713321 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Alfa-L-iduronidase, deficiência de Alpha-L-Iduronidase-Mangel Alpha-L-iduronidase deficiency Deficit di alfa-L-iduronidasi Deficiência de alfa-L-iduronidase Déficit de alfa-L-iduronidasa Déficit en alpha-L-iduronidase Hurler, síndrome de MPS1 MPS1 MPS1 MPS1 MPS1 Scheie, síndrome de Síndrome de Hurler Síndrome de Scheie Mucopolisacaridosis tipo 1 Mucopolisaccaridosi, tipo 1 Mucopolissacaridose tipo 1 (MPS1) Mucopolysaccharidose type 1 Mucopolysaccharidosis type 1 Mukopolysaccharidose Typ 1 hrdo:pat_id_1320 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 104130 1008 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Alopecia - epilepsy - pyorrhea - mental subnormality Shokeir syndrome Shokeir-Syndrom Sindrome di Shokeir Syndrome de Shokeir Alopecia - epilepsia - piorrea - déficit intelectual Alopecia - epilepsia - piorreia - atraso mental Alopecia - epilepsy - pyorrhea - intellectual deficit Alopecia - epilessia - piorrea - ritardo mentale Alopezie - Epilepsie - Pyorrhoe - geistige Retardierung Alopécie- épilepsie - pyorrhée - déficit intellectuel hrdo:pat_id_1321 104000 203655 610753 C537055 10001767 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%22alopecia%22%5BMeSH+Terms%5D+OR+alopecia%5BTitle/Abstract%5D%29+AND+universalis%5BTitle/Abstract%5D L63.1 701 86166000 C0263505 disease Alopecia total Alopecia universal Alopecia universale Alopecia universalis Alopecia universalis Pelade universelle hrdo:pat_id_13213 98196 group of phenomes Dysmorphie-Syndrome mit Phakomatose Dysmorphologic diseases with phakomatosis Enfermedades dismorfológicas con facomatosis Syndrome dysmorphique avec phacomatose Dysmorphie-Syndrom mit Hamartose Malformation syndrome with hamartosis Sindrome dismorfica con amartosi Syndrome malformatif associé à une hamartose Síndrome dismórfico com hamartose Síndrome malformativo con hamartosis hrdo:pat_id_13220 neant G24.1 98203 group of phenomes Distonía-plus, síndrome Dystonia-plus syndrome Dystonie-plus-Syndrom Sindrome distonia-plus Syndrome dystonie-plus Síndrome distonia-plus hrdo:pat_id_13221 98204 group of phenomes Distonia associada com doença heredodegenerativa Enfermedad heredodegenerativa con distonía como manifestación principal Heredodegenerative Krankheit mit assoziierter Dystonie Heredodegenerative disease with dystonia as a major feature Maladie hérédo-dégénérative avec dystonie comme manifestation majeure Malattia eredodegenerativa con distonia come segno principale hrdo:pat_id_1323 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 104100 neant Q82.8 1010 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Alopecia congenita e ipercheratosi palmoplantare autosomica dominante Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia Cheratoderma palmoplantare e alopecia congenita, tipo Stevanovic Hiperqueratosis palmoplantar autosómica dominante y alopecia congénita Hyperkératose palmoplantaire et alopécie congénitale autosomique dominante Hyperkératose palmoplantaire et alopécie congénitale type Stevanovic KPP-AC type Stevanovic Kératodermie palmoplantaire et alopécie congénitale type Stevanovic PPK-CA Typ Stevanovic PPK-CA type Stevanovic PPK-CA, Stevanovic type PPK-CA, tipo Stevanovic PPK-CA, tipo Stevanovic Palmoplantar keratoderma and congenital alopecia, Stevanovic type Palmoplantarkeratose und kongenitale Alopezie Typ Stevanovic Queratodermia palmoplantar y alopecia congénita, tipo Stevanovic Alopecia congenita e cheratoderma palmoplantare autosomico dominante Alopecia congénita - queratose palmoplantar Autosomal dominant palmoplantar keratoderma and congenital alopecia Kératodermie palmoplantaire et alopécie congénitale autosomique dominante Palmoplantarkeratose - kongenitale Alopezie, autosomal-dominant Queratodermia palmoplantar autosómica dominante y alopecia congénita hrdo:pat_id_1324 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter C537053 neant 1011 C2931406 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Devriendt-Legius-Fryns syndrome Devriendt-Legius-Fryns-Syndrom Sindrome di Devriendt-Legius-Fryns Syndrome de Devriendt-Legius-Fryns Síndrome de Devriendt-Legius-Fryns Alopecia - hipogonadismo - síndrome extrapiramidal Alopecia - hipogonadismo - síndrome extrapiramidal Alopecia - hypogonadism - extrapyramidal disorder Alopecia - ipogonadismo - sindrome extrapiramidale Alopezie - Hypogonadismus - extrapyramidale Störungen Alopécie - hypogonadisme - syndrome extrapyramidal hrdo:pat_id_13266 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance D004535 10014316 neant Q79.6 98249 398114001 C0013720 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Ehlers-Danlos syndrome Ehlers-Danlos-Syndrom Sindrome di Ehlers-Danlos Syndrome d'Ehlers-Danlos Síndrome de Ehlers-Danlos Síndrome de Ehlers-Danlos hrdo:pat_id_13269 10058805 98252 312215006 C0596773 group of phenomes Encefalite infecciosa Encefalite infettiva Encefalitis, infecciosas Encéphalite infectieuse Enzephalitis, infektiöse Infectious encephalitis hrdo:pat_id_1327 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601217 1014 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Devriendt-Vandenberghe-Fryns syndrome Devriendt-Vendenberghe-Fryns-Syndrom Sindrome di Devriendt-Van den Berghe-Fryns Syndrome de Devriendt-Vendenberghe-Fryns Síndrome de Devriendt-Vandenberghe-Fryns Alopecia - atraso mental - hipogonadismo Alopecia - déficit intelectual - hipogonadismo hipergonadotrópico Alopecia - intellectual deficit - hypergonadotropic hypogonadism Alopecia - ritardo mentale - ipogonadismo ipogonadotropo Alopezie - geistige Retardierung - Hypogonadismus Alopécie - déficit intellectuel - hypogonadisme hypergonadotrope hrdo:pat_id_13270 10057235 98253 192727001 C0393459 group of phenomes Encefalite post-infettiva Encefalite pós-infecciosa Encefalitis, post-infecciosas Encéphalite post-infectieuse Enzephalitis, post-infektiöse Post-infectious encephalitis hrdo:pat_id_13272 98255 group of phenomes Chronic encephalitis Encefalite cronica Encefalite crónica Encefalitis crónica Encéphalite chronique Enzephalitis, chronische hrdo:pat_id_13274 neant G40.4 98257 group of phenomes Epilepsia, síndrome, neonatal Epilepsie-Syndrom, neonatales Neonatal epilepsy syndrome Sindrome epilettica neonatale Syndrome épileptique du nouveau-né Síndrome epilepsia neonatal hrdo:pat_id_13275 neant G40.4 98258 group of phenomes Epilepsia, síndrome, infantil Epilepsie-Syndrom, infantiles Infantile epilepsy syndrome Sindrome epilettica infantile Syndrome épileptique du nourrisson Síndrome epilepsia do lactente hrdo:pat_id_13276 neant G40.4 98259 group of phenomes Childhood-onset epilepsy syndrome Epilepsia, de aparición en la infancia Epilepsie-Syndrom, im Kindesalter beginnend Sindrome epilettica ad esordio infantile Syndrome épileptique de l'enfance Síndrome epilepsia de início na infância hrdo:pat_id_13277 neant G40.4 98260 group of phenomes Adolescent-onset epilepsy syndrome Epilepsia, de aparición en adolescentes Epilepsie-Syndrom, im Erwachsenenalter beginnend Sindrome epilettica con esordio nell'adolescenza Syndrome épileptique de l'adolescence Síndrome epilepsia de início na adolescência hrdo:pat_id_13278 D020191 98261 267581004 C0751778 group of phenomes EMP PME Epilepsia mioclónica progresiva Epilepsia, mioclonia progressiva Epilepsie myoclonique progressive Epilessia mioclonica progressiva Myoklonusepilepsie, progressive Progressive myoclonic epilepsy hrdo:pat_id_1328 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 203800 D056769 10068783 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Alstrom%5Btw%5D+AND+syndrome%5Ball%5D%29+OR+Alstrom%5Bti%5D E66.0 H35.5 64 63702009 C0268425 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Alström syndrome Alström-Syndrom Sindrome di Alström Syndrome d'Alström Síndrome de Alstrom Síndrome de Alström hrdo:pat_id_13284 98267 group of phenomes Monogenic obesity due to a leptin-melanocortin pathway anomaly Obésité monogénique due à une anomalie de la voie leptine-mélanocortine Adipositas, monogenetische, durch Störung des Leptin-Melanocortin-Signalweges Nonsyndromic obesity Obesidad, humana monogénica, causada por anomalía en la vía leptina-melanocortina Obesidade monogénica por anomalia da via leptina-melanocortina Obesità umana monogenica da anomalia del percorso leptina-melanocortina Obésité non syndromique hrdo:pat_id_1329 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 204110 C536604 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=amaurosis+hypertrichosis 1021 C1857588 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Jalili-Syndrom Amaurose - Hypertrichose Amaurose - hipertricose Amaurose - hypertrichose Amaurosi - ipertricosi Amaurosis - hipertricosis Amaurosis - hypertrichosis hrdo:pat_id_13291 Variabel Variabile Variable Variable Variable Variable Variável D009196 10028576 98274 115248004 128842008 128925001 414794006 425333006 C0027022 C1292778 group of phenomes Disturbo mieloproliferativo MPD MPD MPD MPD MPD MPN MPN MPN MPN MPN Maladie myloproliférative chronique Myeloproliferative Neoplasie Myeloproliferative disorder NMP Neoplasma mieloproliferativo Trastorno mieloproliferativo Doença mieloproliferativa crónica Malattia mieloproliferativa cronica Myeloproliferative Krankheit, chronische Myeloproliferative neoplasm Neoplasia mieloproliferativa Néoplasie myéloproliférative hrdo:pat_id_13292 D054437 98275 397336008 C1301355 group of phenomes Doença mielodisplástica ou mieloproliferativa Enfermedad mielodisplásica o mieloproliferativa Maladie myélodysplasique/myéloproliférative Malattia mieloproliferativa o mielodisplastica Myelodysplastic/myeloproliferative disease Myeloproliferative/Myelodysplastische Krankheit hrdo:pat_id_13294 98277 group of phenomes Acute myeloid leukemia with recurrent genetic anomaly Leucemia mieloide acuta con anomalie genetiche ricorrenti Leucemia mielóide aguda com anomalias genéticas recorrentes Leucemia, aguda, mieloide con anomalía genética recurrente Leucémie aigüe myéloïde avec anomalie génétique récurrente Leukämie, akute myeloblastische, mit rekurrenter genetisch bedingter Störung hrdo:pat_id_13299 neant C90 98282 group of phenomes Plasma cell tumor Plasmazell-Tumor Tumeur plasmocytaire Tumor de células plasmáticas Tumor de plasmócitos Tumore delle cellule plasmatiche hrdo:pat_id_13304 98287 group of phenomes Histiocytic and dendritic cell tumor Histiozytischer und dendritischer Zell-Tumor Tumeur des histiocytes et des cellules dendritiques Tumor de células histiocíticas e dendríticas Tumor de células histiocíticas y dentríticas Tumore delle cellule dendritiche e istiocitiche hrdo:pat_id_13305 98288 group of phenomes Macrophage or histiocytic tumor Makrophagen- oder histiozytischer Tumor Tumeur des histiocytes ou des macrophages Tumor de macrófagos o histiocíticos Tumor histiocítico ou de macrófagos Tumore istiocitico o macrofago hrdo:pat_id_13306 98289 group of phenomes Dendritic cell tumor Dendritischer Zell-Tumor Tumeur des cellules dendritiques Tumor de células dendríticas Tumor de células dendríticas Tumore delle cellule dendritiche hrdo:pat_id_13307 neant D47.9 98290 group of phenomes Doença linfoproliferativa associada a imunodeficiência Immundefekt mit assoziierter lymphoproliferativer Krankheit Immunodeficiency-associated lymphoproliferative disease Immunodéficience associée à un syndrome lymphoprolifératif Inmunodeficiencia asociada a enfermedad linfoproliferativa Malattia linfoproliferativa correlata a immunodeficienza hrdo:pat_id_13308 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant D47.9 98291 group of phenomes Doença linfoproliferativa associada a doença imune primária Enfermedad linfoproliferativa asociada con la inmunodeficiencia primaria Lymphoproliferative Krankheit mit assoziiertem primären Imundefekt Lymphoproliferative disease associated with primary immune disease Malattia linfoproliferativa associata a malattia immune primaria Syndrome lymphoprolifératif associé à un déficit immunitaire primaire hrdo:pat_id_13309 Variabel Variabile Variable Variable Variable Variable Variável D008415 10026891 neant C96.2 D47.0 Q82.2 98292 127581004 397007003 414653009 C0024899 C0334664 group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Mastocitose Mastocitosi Mastocitosis Mastocytose Mastocytosis Mastozytose hrdo:pat_id_1331 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 145701 C536605 neant Q84.2 1023 clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Ambras syndrome Hipertricose generalizada congénita, tipo Ambras Hypertrichosis universalis congenita, Typ Ambras Ipertricosi universale congenita, tipo Ambras Syndrome d'Ambras Ambras-Syndrom Congenital generalized hypertrichosis, Ambras type Hypertrichose congénitale généralisée type Ambras Sindrome di Ambras Síndrome de Ambras Síndrome de Ambras hrdo:pat_id_13310 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant C81 98293 14537002 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Enfermedad de Hodgkin Hodgkin's disease Hodgkin's lymphoma Maladie de Hodgkin Hodgkin lymphoma Hodgkin-Lymphom Linfoma de Hodgkin Linfoma de Hodgkin Linfoma di Hodgkin Lymphome de Hodgkin hrdo:pat_id_13313 98296 group of phenomes Ichthyose mit assoziierter Anomalie der verhornten Zellhüllen und des epidermalen Lipid-Stoffwechsels Ichthyosis associated with a cornified cell envelope and epidermal lipid metabolism anomaly Ichtyose associée à une cornification de la membrane cellulaire et à une anomalie du métabolisme lipidique Ictiose associada a envelope celular cornificado e anomalia do metabolismo lipídico da epiderme Ictiosis asociada con anomalía la envoltura celular cornificada y del metabolismo lipídico de la epidermis Ittiosi associata ad anomalia dello strato di cellule cornificate e del metabolismo del lipidi epidermici hrdo:pat_id_13314 98297 group of phenomes Ichthyose mit assoziierter Störung des Protein-Abbaus Ichthyosis associated with a protein catabolism anomaly Ichtyose associée à une anomalie du catabolisme des protéines Ictiose associada a anomalia do catabolismo proteico Ictiosis asociada con anomalía del catabolismo proteico Ittiosi associata ad anomalia del catabolismo proteico hrdo:pat_id_13315 98298 group of phenomes Ichthyose mit assoziierter peroxisomaler Krankheit Ichthyosis associated with a peroxisomal disease Ichtyose associée à une anomalie du peroxysome Ictiose associada a doença peroxissomal Ictiosis asociada con enfermedad peroxisomal Ittiosi associata a malattia perossisomale hrdo:pat_id_13316 98299 group of phenomes Ichthyose mit assoziierter Störung der Excisionsreparatur Ichthyosis associated with a nucleotide excision repair anomaly Ichtyose associée à une anomalie de réparation de l'excision des nucléotides Ictiose associada a anomalia de excisão/reparação nucleotídica Ictiosis asociada con anomalías de mecanismos de reparación por escisión de nucleótidos Ittiosi associata ad anomalia del riparo per escissione dei nucleotidi hrdo:pat_id_13317 D054988 98300 45157009 C2350236 group of phenomes Idiopathic interstitial pneumonia Neumonía intersticial, idiopática Pneumonia intersticial idiopática Pneumonie interstitielle idiopathique Pneumonie, interstitielle, idiopathische Polmonite interstiziale idiopatica hrdo:pat_id_13318 98301 group of phenomes Laminopathie Laminopathie Laminopathy Laminopatia Laminopatia Laminopatía hrdo:pat_id_13322 neant E88.1 98305 group of phenomes Genetic lipodystrophy Lipodistrofia genetica Lipodistrofia genética Lipodistrofia, genética Lipodystrophie génétique Lipodystrophie, genetisch bedingte hrdo:pat_id_13323 D052496 neant E88.1 98306 49292002 C0271694 group of phenomes Familial partial lipodystrophy Lipodistrofia genetica parziale Lipodistrofia parcial familiar Lipodistrofia, parcial, genética Lipodystrophie partielle familiale Lipodystrophie, partielle, genetisch bedingte hrdo:pat_id_13324 10049287 neant E88.1 98307 C0877192 group of phenomes Acquired lipodystrophy Lipodistrofia acquisita Lipodistrofia adquirida Lipodistrofia, adquirida Lipodystrophie acquise Lipodystrophie, erworbene hrdo:pat_id_13326 98309 group of phenomes Infertilidad masculina con virilización defectuosa Infertilidade masculina com compromisso da virilização Infertilité masculine avec défaut de virilisation Male infertility with impaired virilization Männliche Infertilität mit gestörter Virilisierung Sterilità maschile con virilizzazione anomala hrdo:pat_id_13327 98310 group of phenomes Infertilidad masculina con deficiencia de virilización debido un defecto hipotalámico o de la hipófisis Infertilidade masculina com compromisso da virilização por doença hipotalâmica ou da pituitária Infertilité masculine avec défaut de virilisation due à une anomalie pituitaire ou hypothalamique Male infertility with impaired virilization due to an hypothalamic or pituitary disorder Männliche Infertilität mit gestörter Virilisierung bei Hypothalamus- oder Hypophysendefekt Sterilità maschile con virilizzazione anomala da difetti ipofisari o ipotalamici hrdo:pat_id_13328 98311 group of phenomes Infertilidad masculina con deficiencia de virilización debido a defectos hipotalámicos y pituitarios e hiperprolactinemia Infertilité masculine avec défaut de virilisation due à une anomalie hypothalamo-hypophysaire avec hyperprolactinémie Male infertility with impaired virilisation due to an hypothalamic and pituitary disorder associated with hyperprolactinemia Male infertility with impaired virilisation due to an hypothalamic and pituitary disorder associated with hyperprolactinemia Männliche Infertilität mit gestörter Virilisierung bei Hypothalamus- oder Hypophysendefekt, assoziiert mit Hyperprolaktinämie Sterilità maschile con virilizzazione anomala da difetti ipofisari e ipotalamici associati a iperprolattinemia hrdo:pat_id_13329 98312 group of phenomes Infertilidad masculina con deficiencia de virilización debido a defecto testicular Infertilidade masculina com compromisso da virilização por doença testicular Infertilité masculine avec défaut de virilisation d'origine testiculaire Male infertility with impaired virilization due to a testicular disorder Männliche Infertilität mit gestörter Virilisierung bei testikulärer Funktionsstörung Sterilità maschile con virilizzazione anomala da difetto testicolare hrdo:pat_id_13330 98313 group of phenomes Infertilidad masculina con deficiencia de virilización debido a defectos estructurales y de desarrollo de los testículos Infertilidade masculina com compromisso da virilização por anomalia do desenvolvimento e estrutura testicular Infertilité masculine avec défaut de virilisation due à une anomalie de développement ou de structure des testicules Male infertility with impaired virilization due to developmental and structural testicular defect Männliche Infertilität mit gestörter Virilisierung bei entwicklungsbedingter/struktureller testikulärer Funktionsstörung Sterilità maschile con virilizzazione anomala da difetto dello sviluppo e strutturale dei testicoli hrdo:pat_id_13331 98314 group of phenomes Infertilidad masculina con deficiencia de virilización debido a un defecto testicular adquirido Infertilidade masculina com compromisso da virilização por anomalia testicular adquirida Infertilité masculine avec défaut de virilisation due à une anomalie acquise des testicules Male infertility with impaired virilization due to an acquired testicular defect Männliche Infertilität mit gestörter Virilisierung bei erworbener testikulärer Funktionsstörung Sterilità maschile con virilizzazione anomala da difetto testicolare acquisito hrdo:pat_id_13332 98315 group of phenomes Infertilidad masculina con deficiencia de virilización debido a un defecto testicular adquirido asociado con orquitis viral Infertilidade masculina com compromisso da virilização por orquite vírica Infertilité masculine avec défaut de virilisation due à une orchite virale Male infertility with impaired virilisation due to a viral orchitis Männliche Infertilität mit gestörter Virilisierung durch virale Orchitis Sterilità maschile associata a difetti della virilizzazione da orchite virale hrdo:pat_id_13333 98316 group of phenomes Infertilidad masculina con deficiencia de virilización debido a un defecto testicular adquirido asociada a un trauma Infertilidade masculina com compromisso da virilização por anomalia testicular adquirida, associada a trauma Infertilité masculine avec défaut de virilisation d'origine testiculaire de cause traumatique Male infertility with impaired virilisation due to an acquired testicular defect associated with trauma Männliche Infertilität mit gestörter Virilisierung bei erworbener testikulärer Funktionsstörung infolge Trauma Sterilità maschile con virilizzazione anomala da difetto testicolare acquisito associato a traumi hrdo:pat_id_13334 98317 group of phenomes Infertilidad masculina con virilización disfuncional producto de un defecto testicular adquirido asociado a medicamentos Infertilidade masculina com compromisso da virilização por anomalia testicular adquirida, relacionada com fármacos Infertilité masculine avec défaut de virilisation d'origine testiculaire due à un médicament Male infertility with impaired virilisation due to an acquired testicular defect drug-related Männliche Infertilität mit gestörter Virilisierung bei erworbener testikulärer Funktionsstörung, Medikamenten-assoziiert Sterilità maschile con virilizzazione anomala da difetto testicolare acquisito associato a farmaci hrdo:pat_id_13335 98318 group of phenomes Infertilidad masculina con deficiencia de virilización debido a un defecto testicular adquirido por tóxicos del ambiente Infertilidade masculina com compromisso da virilização por anomalia testicular adquirida, associada com toxina ambiental Infertilité masculine avec défaut de virilisation d'origine testiculaire due à une intoxication environnementale Male infertility with impaired virilisation due to an acquired testicular defect associated with an environmental toxin Männliche Infertilität mit gestörter Virilisierung bei testikulärer Störung, assoz. mit umweltbed. Vergiftung Sterilità maschile con difetti della virilizzazione da difetto testicolare acquisito associato a una tossina ambientale hrdo:pat_id_13336 98319 group of phenomes Infertilidad masculina con deficiencia de virilización debido a un defecto testicular adquirido asociado con la autoinmunidad Infertilidade masculina com compromisso da virilização por anomalia testicular adquirida, associada a autoimunidade Infertilité masculine avec défaut de virilisation d'origine testiculaire due à une maladie auto-immune Male infertility with impaired virilisation due to an acquired testicular defect associated with autoimmunity Männliche Infertilität mit gestörter Virilisierung bei erworbener testikulärer Funktionsstörung, assoziiert mit Autoimmunität Sterilità maschile con virilizzazione anomala da difetto testicolare acquisito associato a autoimmunità hrdo:pat_id_13337 98320 group of phenomes Infertilidad masculina con deficiencia de virilización debido a un defecto testicular secundario a una granulomatosis Infertilidade masculina com compromisso da virilização por anomalia testicular adquirida, associada a doença granulomatosa Infertilité masculine avec défaut de virilisation d'origine testiculaire due à une maladie granulomateuse Male infertility with impaired virilisation due to an acquired testicular defect associated with a granulomatous disease Männliche Infertilität mit gestörter Virilisierung bei testikulärer Störung, assoz. mit granulomatöser Krankheit Sterilità maschile con virilizzazione anomala da difetto testicolare acquisito associato a malattia granulomatosa hrdo:pat_id_13338 98321 group of phenomes Infertilidad masculina con deficiencia de virilización debido a un trastorno testicular asociado a enfermedad sistémica Infertilidade masculina com compromisso da virilização por anomalia testicular, associada a doença sistémica Infertilité masculine avec défaut de virilisation d'origine testiculaire associé à une maladie systémique Male infertility with impaired virilization due to a testicular disorder associated with a systemic disease Männliche Infertilität mit gestörter Virilisierung bei testikulärer Funktionsstörung mit systemischer Krankheit Sterilità maschile con virilizzazione anomala da disturbo testicolare associato a una malattia sistemica hrdo:pat_id_13339 98322 group of phenomes Infertilidad masculina con deficiencia de virilización debido a un trastorno testicular asociado a insuficiencia renal Infertilidade masculina com compromisso da virilização por anomalia testicular, associada a insuficiência renal Infertilité masculine avec défaut de virilisation d'origine testiculaire associé à une insuffisance rénale Male infertility with impaired virilisation due to a testicular disorder associated with renal failure Männliche Infertilität mit gestörter Virilisierung bei testikulärer Funktionsstörung mit Nierenversagen Sterilità maschile con virilizzazione anomala da disturbo testicolare associato a insufficinaza renale hrdo:pat_id_13340 98323 group of phenomes Infertilidad masculina con deficiencia de virilización debido a un trastorno testicular asociado a enfermedad hepática Infertilidade masculina com compromisso da virilização por anomalia testicular, associada a doença hepática Infertilité masculine avec défaut de virilisation d'origine testiculaire associé à une insuffisance hépatique Male infertility with impaired virilisation due to a testicular disorder associated with a hepatic disease Männliche Infertilität mit gestörter Virilisierung bei testikulärer Funktionsstörung, assoziiert mit Leberkrankheit Sterilità maschile con virilizzazione anomala da disturbo testicolare associato a malattia epatica hrdo:pat_id_13341 98324 group of phenomes Infertilidad masculina con deficiencia de virilización debido a un trastorno testicular asociada con enfermedad crónica Infertilidade masculina com compromisso da virilização por anomalia testicular, associada a doença crónica Infertilité masculine avec défaut de virilisation d'origine testiculaire associé à une maladie chronique Male infertility with impaired virilisation due to a testicular disorder associated with a chronic illness Männliche Infertilität mit gestörter Virilisierung bei testikulärer Funktionsstörung, assoziiert mit chronischer Krankheit Sterilità maschile con virilizzazione anomala da disturbo testicolare associato a una malattia cronica hrdo:pat_id_13342 98325 group of phenomes Infertilidad masculina con deficiencia de virilización debido a un trastorno testicular asociado con tirotoxicosis Infertilidade masculina com compromisso da virilização por anomalia testicular, associada a tireotoxicose Infertilité masculine avec défaut de virilisation d'origine testiculaire associé à une thyrotoxicose Male infertility with impaired virilisation due to a testicular disorder associated with thyrotoxicosis Männliche Infertilität mit gestörter Virilisierung bei testikulärer Funktionsstörung, assoziiert mit Thyrotoxikose Sterilità maschile con virilizzazione anomala da disturbo testicolare associato a tireotossicosi hrdo:pat_id_13343 98326 group of phenomes Infertilidad masculina con deficiencia de virilización debido a un trastorno testicular asociado a un trastorno inmunológico Infertilidade masculina com compromisso da virilização por anomalia testicular, associada a doença imune Infertilité masculine avec défaut de virilisation d'origine testiculaire associé à un anomalie immunitaire Male infertility with impaired virilisation due to a testicular disorder associated with an immune disorder Männliche Infertilität mit gestörter Virilisierung bei testikulärer Funktionsstörung, assoziiert mit einer Immunkrankheit Sterilità maschile con virilizzazione anomala da disturbo testicolare associato a un disturbo autoimmune hrdo:pat_id_13344 98327 group of phenomes Infertilidad masculina con deficiencia de virilización debido a un trastorno testicular asociado a alteraciones neurológicas Infertilidade masculina com compromisso da virilização por anomalia testicular, associada a doença neurológica Infertilité masculine avec défaut de virilisation d'origine testiculaire associé à une maladie neurologique Male infertility with impaired virilization due to a testicular disorder associated with a neurologic disease Männliche Infertilität mit gestörter Virilisierung bei testikulärer Störung, assoz. mit neurologischer Krankheit Sterilità maschile con difetti della virilizzazione da malattia testicolare associata a malattia neurologica hrdo:pat_id_13345 neant N46 98328 group of phenomes Infertilidad masculina con virilización normal Infertilidade masculina com virilização normal Infertilité masculine avec virilisation normale Male infertility with normal virilization Männliche Infertilität mit normaler Virilisierung Sterilità maschile con virilizzazione normale hrdo:pat_id_13346 neant N46 98329 group of phenomes Infertilidad masculina con virilización normal debido a defecto hipotalámico o hipofisario Infertilidade masculina com virilização normal por anomalia hipotalâmica ou da pituitária Infertilité masculine avec virilisation normale due à une anomalie hypothalamo-hypophysaire Male infertility with normal virilization due to a hypothalamic or pituitary defect Männliche Infertilität bei Hypothalamus- oder Hypophysendefekt, normale Virilisierung Sterilità maschile con virilizzazione normale da difetti ipofisari o ipotalamici hrdo:pat_id_13347 98330 group of phenomes Infertilidad masculina con virilización normal debido a la administración de andrógenos Infertilidade masculina com virilização normal por administração de androgénio Infertilité masculine avec virilisation normale due à la prise d'androgènes Male infertility with normal virilisation due to androgen administration Männliche Infertilität bei Androgensubstitution, normale Virilisierung Sterilità maschile con virilizzazione normale da somministrazione di androgeni hrdo:pat_id_13348 neant N46 98331 group of phenomes Infertilidad masculina con virilización normal debido a un defecto testicular Infertilidade masculina com virilização normal por anomalia testicular Infertilité masculine avec virilisation normale d'origine testiculaire Male infertility with normal virilization due to a testicular defect Männliche Infertilität bei testikulärer Funktionsstörung, normale Virilisierung Sterilità maschile con virilizzazione normale da difetti testicolari hrdo:pat_id_13349 neant N46 98332 group of phenomes Infertilidad masculina con virilización normal debido a un defecto en el desarrollo o estructural de los testículos Infertilidade masculina com virilização normal por anomalia do desenvolvimento e estrutura testicular Infertilité masculine avec virilisation normale due à une anomalie de développement ou de structure des testicules Male infertility with normal virilization due to developmental or structural testicular defect Männliche Infertilität bei entwicklungsbedingter/struktureller testikulärer Funktionsstörung, normale Virilisierung Sterilità maschile con virilizzazione normale da difetti dello sviluppo e strutturali dei testicoli hrdo:pat_id_1335 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 104400 601360 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Amelia%5Bti%5D+NOT+medline%5Bsb%5D%29+OR+%28amelia%5Btw%5D+AND+%28ectromelia/ge+OR+ectromelia/cn%29%29 Q73.0 1027 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Amelia autosomica recessiva Amelia autossómica recessiva Amelia, autosómica recesiva Amelie, autosomal-rezessive Amélie autosomique récessive Autosomal recessive amelia hrdo:pat_id_13350 98333 group of phenomes Infertilidad masculina con virilización normal por defecto estructural o del desarrollo de los testículos y criptorquidismo Infertilité masculine avec virilisation normale associée à une anomalie des testicules due à une cryptorchidie Male infertility with normal virilisation due to developmental or structural testicular defect associated with cryptorchidism Male infertility with normal virilisation due to developmental or structural testicular defect associated with cryptorchidism Männliche Infertilität mit normaler Virilisierung bei erworbener testikulärer Störung, assoz. mit Kryptorchidismus Sterilità maschile con virilizzazione normale da difetto strutturale o dello sviluppo dei testicoli con criptorchidismo hrdo:pat_id_13351 98334 group of phenomes Infertilidad masculina con virilización normal debido a un defecto estructural o del desarrollo de los testículos y varicocele Infertilidade masculina com virilização normal por anomalia do desenvolvimento e estrutura testicular, associada a varicocelo Infertilité masculine avec virilisation normale associée à une anomalie des testicules due à un varicocèle Male infertility with normal virilisation due to a developmental or structural testicular defect associated with varicocele Männliche Infertilität mit normaler Virilisierung bei entwicklungsbed./strukt. testikulärer Störung, assoz. mit Varikozele Sterilità maschile con virilizzazione normale da difetti dello sviluppo e strutturali dei testicoli con varicocele hrdo:pat_id_13352 neant N46 98335 group of phenomes Infertilidad masculina con virilización normal debido a un defecto testicular adquirido Infertilidade masculina com virilização normal por anomalia testicular adquirida Infertilité masculine avec virilisation normale due à une anomalie acquise des testicules Male infertility with normal virilization due to acquired testicular defect Männliche Infertilität bei erworbener testikulärer Funktionsstörung, normale Virilisierung Sterilità maschile con virilizzazione normale da difetto testicolare acquisito hrdo:pat_id_13353 neant N46 98336 group of phenomes Infertilidad masculina con virilización normal debido a un defecto testicular asociado con infección por micoplasma Infertilidade masculina com virilização normal por anomalia testicular adquirida, associada a infeção por micoplasma Infertilité masculine avec virilisation normale d'origine testiculaire due à une infection par mycoplasme Male infertility with normal virilization due to acquired testicular defect associated with mycoplasma infection Männliche Infertilität bei erworbener testikulärer Funktionsstörung, assoziiert mit Mykoplasma-Infektion, normale Virilisierung Sterilità maschile con virilizzazione normale da difetto testicolare acquisito con infezione micoplasmatica hrdo:pat_id_13354 98337 group of phenomes Infertilidad masculina con virilización normal debido a defecto testicular adquirido asociado a la radiación Infertilidade masculina com virilização normal por anomalia testicular adquirida, associada a radiação Infertilité masculine avec virilisation normale d'origine testiculaire radio-induite Male infertility with normal virilisation due to acquired testicular defect associated with radiation Männliche Infertilität bei erworbener testikulärer Funktionsstörung, assoziiert mit Strahlungsschaden, normale Virilisierung Sterilità maschile con virilizzazione normale da difetto testicolare acquisito associato a radiazioni hrdo:pat_id_13355 98338 group of phenomes Infertilidad masculina con virilización normal debido a un defecto testicular adquirido asociado a las drogas Infertilidade masculina com virilização normal por anomalia testicular adquirida, associada a fármacos Infertilité masculine avec virilisation normale d'origine testiculaire due à un médicament Male infertility with normal virilisation due to acquired testicular defect associated with drug Männliche Infertilität bei erworbener testikulärer Funktionsstörung, Medikamenten-assoziiert, normale Virilisierung Sterilità maschile con virilizzazione normale da difetto testicolare acquisito associato a farmaci hrdo:pat_id_13356 98339 group of phenomes Infertilidad masculina con virilización normal debido a un defecto testicular adquirido asociado a toxinas medioambientales Infertilidade masculina com virilização normal por anomalia testicular adquirida, associada a toxina ambiental Infertilité masculine avec virilisation normale d'origine testiculaire due à une intoxication environnementale Male infertility with normal virilisation due to acquired testicular defect associated with environmental toxin Männliche Infertilität mit normaler Virilisierung bei erworbener testikulärer Störung, assoz. mit umweltbedingter Vergiftung Sterilità maschile con virilizzazione normale da difetto testicolare acquisito associato a una tossina ambientale hrdo:pat_id_13357 98340 group of phenomes Infertilidad masculina con virilización normal debido a un defecto testicular adquirido asociado con la autoinmunidad Infertilidade masculina com virilização normal por anomalia testicular adquirida, associada a autoimunidade Infertilité masculine avec virilisation normale d'origine testiculaire due à une maladie auto-immune Male infertility with normal virilisation due to acquired testicular defect associated with autoimmunity Männliche Infertilität bei erworbener testikulärer Funktionsstörung, assoziiert mit Autoimmunität, normale Virilisierung Sterilità maschile con virilizzazione normale da difetto testicolare acquisito associato a autoimmunità hrdo:pat_id_13358 neant N46 98341 group of phenomes Infertilidad masculina con virilización normal debido a un defecto testicular adquirido asociado a enfermedad sistémica Infertilidade masculina com virilização normal por doença sistémica Infertilité masculine avec virilisation normale due à une maladie systémique Male infertility with normal virilization due to a systemic disease Männliche Infertilität bei testikulärer Funktionsstörung, assoziiert mit systemischer Krankheit, normale Virilisierung Sterilità maschile con virilizzazione normale da difetto testicolare associato a una malattia sistemica hrdo:pat_id_13359 98342 group of phenomes Infertilidad masculina con virilización normal debido a un defecto testicular adquirido asociado a lesión medular Infertilidade masculina com virilização normal por deficiência testicular, associada a lesão da espinhal medula Infertilité masculine avec virilisation normale d'origine testiculaire due à une lésion de la moëlle épinière Male infertility with normal virilisation due to testicular defect associated with spinal cord injury Männliche Infertilität bei testikulärer Funktionsstörung infolge Rückenmarksverletzung, normale Virilisierung Sterilità maschile con virilizzazione normale da difetti testicolari associati a lesioni del midollo spinale hrdo:pat_id_1336 104570 neant Q82.4 1028 malformation syndrome Amelo-onycho-hypohidrotic syndrome Amelo-onycho-hypohidrotisches Syndrom Sindrome amelo-onico-ipoidrotica Syndrome amélo-onycho-hypohidrotique Síndrome amelo-onico-hipohidrótico Síndrome amelo-ónico-hipohidrótico hrdo:pat_id_13360 neant N46 98343 group of phenomes Infertilidad masculina con virilización normal secundaria a une trastorno del transporte de esperma Infertilidade masculina com virilização normal por compromisso do transporte do esperma Infertilité masculine avec virilisation normale de cause obstructive Male infertility with normal virilization due to impaired sperm transport Männliche Infertilität bei gestörtem Spermientransport, normale Virilisierung Sterilità maschile con virilizzazione normale da anomalie del trasporto dello sperma hrdo:pat_id_13362 neant N46 98345 group of phenomes Infertilidad masculina, idiopática, rara Infertilidade masculina idiopática, rara Infertilität, männliche, idiopathische, seltene Infertilité masculine idopathique rare Rare idiopathic male infertility Sterilità maschile idiopatica rara hrdo:pat_id_13366 neant Q82.8 98349 group of phenomes Autosomal dominant isolated diffuse palmoplantar hyperkeratosis Hiperqueratosis palmoplantar difusa aislada autosómica dominante Hyperkératose palmoplantaire diffuse isolée autosomique dominante Ipercheratosi palmoplantare diffusa isolata autosomica dominante Autosomal dominant isolated diffuse palmoplantar keratoderma Cheratoderma palmoplantare diffuso isolato autosomico dominante Kératodermie palmoplantaire diffuse isolée autosomique dominante Palmoplantarkeratose, autosomal-dominante, diffuse, ohne assoziierte Krankheit Queratodermia palmoplantar difusa aislada autosómica dominante Queratodermia palmoplantar difusa, autossómica dominante, sem patologia associada hrdo:pat_id_13369 neant Q82.8 98352 group of phenomes Autosomal dominant disease with diffuse palmoplantar hyperkeratosis as a major feature Enfermedad autosómica dominante con hiperqueratosis palmoplantar difusa como característica principal Maladie autosomique dominante avec hyperkératose palmoplantaire diffuse comme manifestation majeure Malattia autosomica dominante con ipercheratosi palmoplantare diffuso come segno cardinale Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature Enfermedad autosómica dominante con queratodermia palmoplantar difusa como característica principal Maladie autosomique dominante avec kératodermie palmoplantaire diffuse comme manifestation majeure Malattia autosomica dominante con cheratoderma palmoplantare diffuso come segno cardinale Palmoplantarkeratose, autosomal-dominante, diffuse, mit assoziierter Krankheit Queratodermia palmoplantar difusa, autossómica dominante, com patologia associada hrdo:pat_id_13370 neant Q82.8 98353 group of phenomes Autosomal dominant disease associated with focal palmoplantar hyperkeratosis as a major feature Enfermedad autosómica dominante con hiperqueratosis palmoplantar focal como característica principal Maladie autosomique dominante avec une kératodermie hyperkératose focale comme manifestation majeure Malattia autosomica dominante associata a ipercheratosi palmoplantare focale come segno cardinale Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature Enfermedad autosómica dominante con queratodermia palmoplantar focal como característica principal Maladie autosomique dominante avec une kératodermie palmoplantaire focale comme manifestation majeure Malattia autosomica dominante associata a cheratoderma palmoplantare focale come segno cardinale Palmoplantarkeratose, autosomal-dominante, zirkumskripte, mit assoziierter Krankheit Queratodermia palmoplantar circunscrita, autossómica dominante, com patologia associada hrdo:pat_id_13373 neant Q82.8 98356 group of phenomes Autosomal recessive isolated diffuse palmoplantar hyperkeratosis Hiperqueratosis palmoplantar difusa aislada autosómica recesiva Hyperkératose palmoplantaire diffuse isolée autosomique récessive Ipercheratosi palmoplantare diffusa isolata autosomica recessiva Autosomal recessive isolated diffuse palmoplantar keratoderma Cheratoderma palmoplantare diffuso isolato autosomico recessivo Kératodermie palmoplantaire diffuse isolée autosomique récessive Palmoplantarkeratose, autosomal-rezessive, diffuse Queratodermia palmoplantar difusa aislada autosómica recesiva Queratodermia palmoplantar difusa, autossómica recessiva hrdo:pat_id_13374 neant Q82.8 98357 group of phenomes Autosomal recessive disease with focal palmoplantar hyperkeratosis as a major feature Enfermedad autosómica recesiva con hiperqueratosis palmoplantar focal como característica principal Maladie autosomique récessive avec hyperkératose palmoplantaire focale comme manifestation majeure Malattia autosomica recessiva con ipercheratosi palmoplantare focale come segno cardinale Autosomal recessive disease with focal palmoplantar keratoderma as a major feature Enfermedad autosómica recesiva con queratodermia palmoplantar focal como característica principal Maladie autosomique récessive avec kératodermie palmoplantaire focale comme manifestation majeure Malattia autosomica recessiva con cheratoderma palmoplantare focale come segno cardinale Palmoplantarkeratose, autosomal-rezessive, zirkumskripte Queratodermia palmoplantar circunscrita, autossómica recessiva hrdo:pat_id_13377 neant D50.8 98360 group of phenomes Anemia constitucional por trastorno del metabolismo del hierro Anemia costituzionale da anomalie del metabolismo del ferro Anémie constitutionnelle due à une anomalie du métabolisme du fer Constitutional anemia due to iron metabolism disorder Doença do metabolismo do ferro e da síntese do heme Eisenstoffwechsel- und Hämoglobinsynthese-Störung hrdo:pat_id_13379 182170 206000 neant D64.0 98362 group of phenomes Anemia sideroblastica costituzionale Anemia sideroblástica constitucional Anemia sideroblástica genética Anämie, konstitutionelle sideroblastische Anémie sidéroblastique constitutionnelle Constitutional sideroblastic anemia hrdo:pat_id_13380 98363 group of phenomes Anemia emolitica rara Anemia hemolítica Anemia hemolítica rara Anämie, hämolytische Anémie hémolytique rare Rare hemolytic anemia hrdo:pat_id_13381 98364 group of phenomes Anemia emolitica costituzionale rara da anomalie della membrana dei globuli rossi Anemia hemolítica constitucional rara debida a una anomalía en la membrana de los glóbulos rojos Anemia por anomalia da membrana dos glóbulos vermelhos Anémie hémolytique constitutionnelle rare par anomalie de la membrane du globule rouge Rare constitutional hemolytic anemia due to a red cell membrane anomaly Seltene konstitutionelle hämolytische Anämie durch Membrananomalie der roten Blutkörperchen hrdo:pat_id_13382 185010 neant D58.8 98365 3272007 group of phenomes Enfermedad estomatocítica Maladie stomatocytique Malattia stomatocitica Stomatocytic disease Estomatocitose Estomatocitosis Stomatocitosi Stomatocytose Stomatocytosis Stomatozytische Krankheit hrdo:pat_id_13383 neant E78.6 98366 group of phenomes Anemia emolitica costituzionale da malattia acantocitica Anemia hemolítica constitucional por trastorno acantocítico Anémie hémolytique constitutionnelle due à une maladie acanthocytique Constitutional hemolytic anemia due to acanthocytic disorder Acantocitose Anemia emolitica costituzionale da acantocitosi Anemia hemolítica constitucional por acantocitosis Anémie hémolytique constitutionnelle due à une acanthocytose Constitutional hemolytic anemia due to acanthocytosis Konstitutionelle hämolytische Anämie durch Akanthozytose hrdo:pat_id_13386 neant D55 98369 group of phenomes Anemia emolitica costituzionale rara da deficit enzimatico Anemia hemolítica constitucional rara debida a una anomalía enzimática Anemia hemolítica genética por deficiência enzimática Anämie, hämolytische, bei genetisch bedingtem Enzym-Mangel Anémie hémolytique constitutionnelle rare par anomalie enzymatique Rare constitutional hemolytic anemia due to an enzyme disorder hrdo:pat_id_13387 neant D55.1 98370 group of phenomes Anemia emolitica da anomalie del metabolismo del glutatione e shunt dell'esoso monofosfato Anemia hemolítica por anomalias do shunt hexose monofosfato e metabolismo da glutationa Anemia, hemolítica, debido a anomalías en el metabolismo de la vías de la hexosa monofosfato y glutation Anämie, hämolytische, bei Hexosemonophosphat-Shunt/Glutathion-Stoffwechselstörung Anémie hémolytique due à une anomalie du métabolisme du gluthatione et du shunt héxose monophosphate Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies hrdo:pat_id_13389 neant D55.2 98372 group of phenomes Anemia emolitica da difetti degli enzimi glicolitici Anemia hemolítica debida a anomalías de las enzimas glicolíticas Anémie hémolytique par anomalie des enzymes glycolytiques Doença glicolítica Glykolytische Krankheit Hemolytic anemia due to a disorder of glycolytic enzymes hrdo:pat_id_1339 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 204690 C538241 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=((Amelogenesis+imperfecta)+nephrocalcinosis)+OR+%22enamel+renal+syndrome%22 K00.5 1031 109477002 C0403549 C2931783 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome renale e dello smalto Síndrome amelo-renal Amelogenesi imperfetta - nefrocalcinosi Amelogenesis imperfecta - Nephrokalzinose Amelogenesis imperfecta - nefrocalcinosis Amelogenesis imperfecta - nephrocalcinosis Amelogénese imperfeita - nefrocalcinose Amélogenèse imparfaite - néphrocalcinose hrdo:pat_id_13391 neant D55.3 98374 group of phenomes Anemia emolitica da eritroenzimopatia Anemia hemolítica por una eritroenzimopatía Anémie hémolytique par erythroenzymopathie Hemolytic anemia due to an erythroenzymopathy Hämolytische Anämie durch Erythroenzymopathie Anemia emolitica da difetto del metabolismo nucleotidico degli eritrociti Anemia hemolítica por trastorno del metabolismo nucleotídico de los eritrocitos Anémie hémolytique par anomalie du métabolisme nucléotidique de l'érythrocyte Doença do metabolismo nucleotídico dos eritrócitos Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder Hämolytische Anämie durch Erythrozyten-Nukleotidstoffwechselstörung hrdo:pat_id_13392 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Variabel Variabile Variable Variable Variable Variable Variável 205700 D000744 10002046 neant D59.0 D59.1 98375 413603009 C0002880 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 AHA AHA AHA AHA AHAI AHAI AIHA AIHA AIHA AIHA Anemia emolitica autoimmune Anemia hemolítica autoimune Anemia hemolítica autoinmune Anämie, autoimmun-hämolytische Anémie hémolytique auto-immune Autoimmune hemolytic anemia hrdo:pat_id_134 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 277900 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hepatolenticular+degeneration%5Bmh%5D+OR+hepatolenticular+degener*%5Bti%5D+OR+Wilson+Dis*%5Bti%5D+OR+Westphal+Strump*%5Bti%5D+OR+Wilson%27s+Dis*%5Bti%5D E83.0 905 88518009 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Degeneration, hepatolentikuläre Degenerazione epatolenticolare Degenerescência hepatolenticular Dégénérescence hépato-lenticulaire Hepatolenticular degeneration Doença de Wilson Enfermedad de Wilson Maladie de Wilson Malattia di Wilson Wilson disease Wilson-Krankheit hrdo:pat_id_1341 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance D000652 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Amniotic+band+syndrome+OR+%28Terminal+transverse%5Btw%5D+AND+arm%5Btw%5D%29 Q79.8 1034 C1527388 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Amnionruptur-Sequenz Amniotic bands Bandas amnióticas familiares Bandas amnióticas familiares Bande amniotiche Maladie des brides amniotiques hrdo:pat_id_13413 neant D51 98396 group of phenomes Anemia megaloblastica costituzionale da disturbi del metabolismo della vitamina B12 Anemia megaloblástica constitucional por trastorno del metabolismo de la vitamina B12 Anemia megaloblástica, relacionada com a vitamina B12 Anämie, megaloblastische, Vitamin B12-abhängig Anémie mégaloblastique constitutionnelle due à une anomalie de métabolisme de la vitamine B12 Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder hrdo:pat_id_1342 249650 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=disulfiduria E72.1 1035 disease Ampola syndrome Ampola-Syndrom Syndrome d'Ampola Atraso mental - face peculiar, tipo Ampola Encefalopatia da disulfiduria beta-mercaptolattato-cisteina Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria Encéphalopathie par bêta-mercaptolactate-cystéine disulfide Enzephalopathyie durch Beta-Mercaptolaktat-Cystein Disulfidurie Síndrome de Ampola hrdo:pat_id_13425 neant D52.8 98408 group of phenomes Anemia megaloblastica costituzionale da difetto del metabolismo dei folati Anemia megaloblástica constitucional debida a trastornos en el metabolismo del folato Anemia megaloblástica relacionada com folato Anämie, megaloblastische, Folat-abhängig Anémie mégaloblastique constitutionnelle par déficit en métabolisme du folate Constitutional megaloblastic anemia due to folate metabolism disorder hrdo:pat_id_13432 neant D53 98415 group of phenomes Anemia megaloblastica costituzionale vitamina B12- e folati-indipendente Anemia megaloblástica constitucional independiente de la vitamina B12 o del folato Anemia megaloblástica independente de vitamina B12 e de folato Anämie, megaloblastische, Vitamin B12- und Folat-unabhängig Anémie mégaloblastique constitutionnelle indépendante de la vitamine B12 ou du folate Vitamin B12- and folate-independent constitutional megaloblastic anemia hrdo:pat_id_13438 10038184 neant D60 98421 C0281963 group of phenomes Aplasia dos glóbulos vermelhos Aplasia eritrocitaria Aplasia eritrocitaria Aplasie de la lignée rouge Aplasie der roten Blutkörperchen Red cell aplasia hrdo:pat_id_1344 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 108110 C536613 10051643 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Amyoplasia+congenita%5Btw%5D+OR+Arthrogryposis+multiplex+congenita%5Btw%5D Q74.3 1037 77016009 C2931264 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Esporádica Esporádico Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X Sporadic Sporadic Sporadica Sporadique Sporadisch X-chromosomal-rezessiv X-linked recessive X-linked recessive group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Amioplasia congenita Amioplasia congénita Amyoplasia congenita Amyoplasia congenita Amyoplasie congénitale Miodisplasia Miodisplasia Myodysplasia Myodysplasie Myodysplasie Amioplasia congénita Arthrogrypose multiple congénitale Arthrogryposis multiplex congenita Arthrogryposis multiplex congenita Artrogripose múltipla congénita Artrogriposi multipla congenita hrdo:pat_id_13444 D011086 10036051 98427 127062003 C0032461 group of phenomes Policitemia Policitemia Policitemia Polycythemia Polycythémie Polyzythämie hrdo:pat_id_13445 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável neant D75.1 98428 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Eritrocitosi secondaria Eritrocitosis secundaria Erythrocytose secondaire Erythrozytose, sekundäre Secondary erythrocytosis Policitemia secondaria Policitemia secundaria Policitemia secundária Polycythémie secondaire Polyzythämie, sekundäre Secondary polycythemia hrdo:pat_id_13446 98429 group of phenomes Coagulopathie rare Coagulopatia Coagulopatía rara Doença da coagulação, rara Rare coagulation disorder Seltene Gerinnungsstörung hrdo:pat_id_13451 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 277450 607473 neant D68.2 98434 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficit combinato ereditario dei fattori II, VII, IX e X Déficit combinado hereditario de factores II, VII, IX y X Déficit héréditaire combiné en facteur II, VII, IX et X Faktoren II, VII, IX und X, kombinierter Mangel Hereditary combined deficiency of factors II, VII, IX and X Deficit combinato ereditario dei fattori della coagulazione dipedenti dalla vitamina K Deficiência combinada dos fatores de coagulação dependentes da vitamina K Déficit combinado hereditario de factores de la coagulación vitamina K dependientes Déficit héréditaire combiné en facteurs de la coagulation vitamine K-dépendants Hereditary combined deficiency of vitamin K-dependent clotting factors Vitamin K-abhängige Gerinnungsfaktoren, hereditärer kombinierter Mangel hrdo:pat_id_13452 98435 group of phenomes Anomalia degli inibitori delle proteasi Anomalia do Inibidor da protease Anomalie de l'inhibiteur de la protéase Inhibidor de la proteasa, anomalía Protease inhibitor anomaly Protease-Inhibitor-Anomalie hrdo:pat_id_1346 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 602111 613073 C537351 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Metaphyseal%5BAll+Fields%5D+AND+anadysplasia%5BAll+Fields%5D Q78.5 1040 254085009 C0432226 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia metafisaria regresiva Displasia metafisaria regressiva Dysplasie métaphysaire regressive Maroteaux-Verloes-Stanescu syndrome Maroteaux-Verloes-Stanescu-Syndrom Regressive metaphyseal dysplasia Sindrome di Maroteaux-Verloes-Stanescu Syndrome de Maroteaux-Verloes-Stanescu Síndrome de Maroteaux-Verloes-Stanescu Anadisplasia metafisaria Anadisplasia metafisaria Anadisplasia metafisária Anadysplasie métaphysaire Anadysplasie, metaphysäre Metaphyseal anadysplasia hrdo:pat_id_1347 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 236750 D015160 10020529 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Hydrops+Fetalis%5Bti%5D+OR+%09Hydrops+Fetalis%5Bmh%5D P56 P83.2 1041 276508000 C0020305 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Edema fetal Edema fetal Edema fetale Fetal edema Hydrops fetalis Ödem, fetales Ödem, fetales generalisiertes Anasarque foetale Hidrópsia fetal Hydrops fetalis Hydrops fetalis Hydrops fetalis Idrope fetale hrdo:pat_id_13471 185050 neant 98454 group of phenomes SPD SPD SPD SPD Anomalie de stockage des granules plaquettaires Doença da função plaquetária por anomalia na secreção, genética Enfermedad de almacenamiento del pool plaquetario Malattia del pool di deposito delle piastrine Platelet storage pool disease Thrombozyten-Funktionsstörung, genetisch bedingte, bei Sekretionsanomalie hrdo:pat_id_13472 neant D69.1 98455 group of phenomes Maladie du pool vide alpha Alpha granule disease Alpha-Granula-Defekt der Thrombozyten Anomalie des granules alpha Doença dos granulos alfa Gránulo-Alfa, enfermedad de Malattia dei granuli alfa hrdo:pat_id_13473 neant D69.1 98456 group of phenomes Anomalie des granules delta Delta granule disease Maladie du pool vide delta Anomalie des granules denses Dense (Delta) de gránulos, enfermedad Dense granule disease Dichte (Delta)-Granula-Defekt der Thrombozyten Doença dos granulos densos (delta) Malattia dei granuli densi (delta) hrdo:pat_id_13481 98464 group of phenomes Atraso mental sindrómico, ligado ao X Deficit cognitivo sindromico legato all'X Déficit intelectual sindrómico ligado al X Déficit intellectuel lié à l'X syndromique Geistige Retardierung, X-chromosomale, syndromale X-linked syndromic intellectual deficit hrdo:pat_id_13485 98468 group of phenomes Congenital muscular dystrophy due to extracellular matrix protein anomaly Distrofia muscolare congenita da anomalia delle proteine della matrice extracellulare Distrofia muscular congénita debido a anomalías en las proteínas de la matriz extracelular Distrofia muscular congénita por anomalia de proteína da matriz extracelular Dystrophie musculaire congénitale par anomalie des protéines de la matrice extracellulaire Muskeldystrophie, kongenitale, durch Proteinanomalie der extrazellulären Matrix hrdo:pat_id_13486 98469 group of phenomes Congenital muscular dystrophy due to glycosyltransferase anomaly Distrofia muscolare congenita da anomalia delle glicosiltransferasi Distrofia muscular congénita debido a la anomalía de la glicosiltransferasa Distrofia muscular congénita por anomalia da glicosiltransferase Dystrophie musculaire congénitale par anomalie de la glycosyltransférase Muskeldystrophie, kongenitale, durch Glykosyltransferase-Anomalie hrdo:pat_id_13487 98470 group of phenomes Congenital muscular dystrophy due to proteins of the endoplasmic reticulum anomaly Distrofia muscolare congenita da anomalia delle proteine del reticolo endoplasmatico Distrofia muscular congénita debido a anomalías de las proteínas del retículo endoplasmático Distrofia muscular congénita por anomalia de proteínas do retículo endoplasmático Dystrophie musculaire congénitale par anomalie des protéines du réticulum endoplasmique Muskeldystrophie, kongenitale, durch Proteinanomalie des endoplasmatischen Retikulums hrdo:pat_id_13489 D009135 10028641 98472 75047002 C1533847 group of phenomes Doença muscular esquelética Maladie du muscle squelettique Malattia dei muscoli scheletrici Músculo esquelética, enfermedad Skeletal muscle disease Skelettmuskel-Krankheit hrdo:pat_id_13490 D009136 10028356 neant G71.0 98473 73297009 C0026850 group of phenomes Distrofia muscolare Distrofia muscular Distrofia muscular Dystrophie musculaire Muscular dystrophy Muskeldystrophie hrdo:pat_id_13499 98482 C0751356 group of phenomes IMM IMM IMM IMM MII Idiopathic inflammatory myopathy Miopatia e fasciite inflamatórias adquiridas Miopatia infiammatoria idiopatica Miopatía inflamatoria idiopática Myopathie and Fasziitis, inflammatorisch, erworben Myopathie inflammatoire idiopathique hrdo:pat_id_13503 10068836 98486 26111005 C0270984 group of phenomes Enfermedad metabólica del músculo Malattia metabolica del muscolo Metabolic myopathy Miopatia metabólica Myopathie d'origine métabolique Stoffwechselkrankheit der Muskeln hrdo:pat_id_13508 D020511 neant G70 98491 128213006 C0751950 group of phenomes Doença da junção neuromuscular Maladie de la jonction neuromusculaire Malattia delle giunzioni neuromuscolari Neuromuscular junction disease Neuromuskuläre Übertragungsstörung Unión neuromuscular, enfermedad hrdo:pat_id_1351 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 257300 614114 C536987 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(mosaic+OR+mosaicism)+variegated+aneuploidy Q99.8 1052 C1850343 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Sindrome di Warburton-Anyane-Yeboa Syndrome de Warburton-Anyane-Yeboa Síndrome de Warburton-Anyane-Yeboa Síndrome de Warvburton-Anyane-Yeboa Warburton-Anyane-Yeboa syndrome Warburton-Anyane-Yeboa, síndrome de Warburton-Anyane-Yeboa-Syndrom Mosaic variegated aneuploidy syndrome Sindrome da aneuploidia variegata in mosaico Syndrome d'aneuploïdie en mosaïque Síndrome aneuploidia variada em mosaico Síndrome de aneuploidia en mosaico variegada Variables Aneuploidie-Mosaik-Syndrom hrdo:pat_id_13511 neant 98494 group of phenomes Acquired neuromuscular junction disease Doença da junção neuromuscular, adquirida Maladie acquise de la jonction neuromusculaire Malattia acquisita delle giunzioni neuromuscolari Neuromuskuläre Übertragungsstörung, erworbene Unión neuromuscular, enfermedad, adquirida hrdo:pat_id_13512 neant 98495 group of phenomes Doença da junção neuromuscular, autossómica dominante ou recessiva Enfermedad genética de la unión neuromuscular Genetic disease of neuromuscular junction Maladie génétique de la jonction neuromusculaire Malattia genetica delle giunzioni neuromuscolari Neuromuskuläre Übertragungsstörung, genetisch bedingte hrdo:pat_id_13513 98496 group of phenomes Malattia dei nervi periferici Nervenkrankheit, periphere Neuropathie périphérique rare Neuropatia periférica rara Neuropatía periférica rara Rare peripheral neuropathy hrdo:pat_id_13514 98497 group of phenomes Genetic peripheral neuropathy Malattia genetica dei nervi periferici Nervenkrankheit, periphere, genetisch bedingte Nervio periférico, enfermedad, genética Neuropathie périphérique génétique Neuropatia periférica, genética hrdo:pat_id_1352 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance C536535 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Vein+of+Galen%5Btw%5D+AND+aneurysm Q28.2 1053 253194008 C0431420 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Malformation atério-veineuse de la veine de Galien VGAM Vein of Galen arteriovenous malformations Aneurisma da veia de Galeno Aneurisma de la vena de Galeno Aneurisma della vena di Galeno Anévrysme de la veine de Galien Vein of Galen Aneurysma Vein of Galen aneurysm hrdo:pat_id_13520 neant G12.2 98503 group of phenomes Anterior horn cell disease Enfermedad de las células del asta anterior Krankheit der Vorderhornzellen Maladie de la corne antérieure Malattia delle cellule delle corna anteriori Doença das células dos cornos anteriores Enfermedad de las motoneuronas Maladie du motoneurone Malattia dei motoneuroni Motoneuronkrankheit Motor neuron disease hrdo:pat_id_13522 neant 98505 group of phenomes Genetic anterior horn cell disease Maladie génétique de la corne antérieure Células del cuerno anterior, enfermedad, autosómica dominante o recesiva Doença das células dos cornos anteriores, autossómica dominante ou autossómica recessiva Genetic motor neuron disease Krankheit der Vorderhornzellen, autosomal-dominant oder rezessive Maladie génétique du motoneurone Malattia delle cellule delle corna anteriori, autosomica dominante o recessiva hrdo:pat_id_13523 98506 group of phenomes Acquired anterior horn cell disease Enfermedad adquirida de las células del asta anterior Krankheit der Vorderhornzellen, erworbene Maladie acquise de la corne antérieure Malattia acquisita delle cellule delle corna anteriori Acquired motor neuron disease Doença das células dos cornos anteriores, adquirida Enfermedad adquirida de las motoneuronas Maladie acquise du motoneurone Malattia acquisita dei motoneuroni Motoneuronkrankheit, erworbene hrdo:pat_id_1353 neant Q24.8 1055 malformation syndrome Aneurisma fetal ventricular izquierdo Aneurisma fetale del ventricolo sinistro Aneurisma ventricular esquerdo fetal Anévrysme foetal ventriculaire gauche Fetal left ventricular aneurysm Fetales Aneurysma des linken Ventrikels hrdo:pat_id_13531 neant 98514 group of phenomes Fehlbildung des Kleinhirnwurmes Hipoplasia paleocerebelosa Malformación del vermis cerebeloso Malformation du vermis cérébelleux Malformation of the cerebellar vermis Malformazione del verme cerebellare hrdo:pat_id_13533 neant Q04.3 98516 group of phenomes Fehlbildung der zerebellären Hemisphären Hipoplasia neocerebelosa Malformación de los hemisferios del cerebelo Malformation des hémisphères cérébelleux Malformation of the cerebellar hemispheres Malformazione degli emisferi cerebellari hrdo:pat_id_13535 98518 group of phenomes Aplasia dei nuclei e dei nervi cranici Aplasia dos núcleos e nervos cranianos Aplasie des nerfs crâniens et des noyaux Cranial nerve and nuclear aplasia Kraniale Nerven- und Kernaplasie Nervio craneal y aplasia nuclear hrdo:pat_id_13536 98519 group of phenomes Anomalia da fossa posterior Fossa posterior-Malformation Malformación de la fosa posterior Malformation de la fosse postérieure Malformazione della fossa posteriore Posterior fossa malformation hrdo:pat_id_13537 98520 group of phenomes Coleção anormal de líquido no rombencéfalo médio Cystic malformation of the posterior fossa Malformación quística de la fosa posterior Malformation kystique de la fosse postérieure Malformazione cistica della fossa posteriore Zystsiche Fehlbildung der Fossa posterior hrdo:pat_id_13540 neant Q04.3 98523 group of phenomes Hipoplasia pontocerebelosa Hipoplasia pontocerebelosa no sindrómica Hypoplasie pontocérébelleuse non syndromique Ipoplasia pontocerebellare non sindromica Nonsyndromic pontocerebellar hypoplasia Pontozerebelläre Hypoplasie, nicht-syndromale hrdo:pat_id_13544 D024801 98527 C0949664 group of phenomes Tauopathie Tauopathie Tauopathy Tauopatia Tauopatía Taupatia hrdo:pat_id_13545 98528 group of phenomes Tauopathie avec dégénérescence du lobe frontal non-Alzheimer et non-Pick Tauopathie mit Frontallappen-Degeneration, nicht Alzheimer, nicht Pick-Krankheit Tauopathy with non-Alzheimer non-Pick frontal lobe degeneration Tauopatia con degenerazione del lobo frontale non Alzheimer, non Pick Tauopatía, degeneración del lóbulo frontal, no- Alzheimer, no-Pick Taupatia com degeneração não-Alzheimer e não-Pick do lobo frontal hrdo:pat_id_13546 98529 group of phenomes Tauopathie avec triplet majeur de protéine tau à 60, 64 et 69kDa Tauopathie mit assoziiertem Tau-Triplett bei 60, 64 und 69kda Tauopathy with a major tau triplet at 60, 64 and 69 kDa Tauopatia con tripletta maggiore tau a 60, 64 e 69 kDa Tauopatía, triplete tau principal en 60, 64 y 69 kda Taupatia com um tripleto tau major com 60, 64 e 69 kDa hrdo:pat_id_13547 98530 group of phenomes Tauopathie avec doublet majeur de protéine tau à 64 et 69 kDa Tauopathie mit assoziiertem Tau-Triplett bei 64 und 69kda Tauopathy with a major tau doublet at 64 and 69 kDa Tauopatia con tripletta maggiore tau a 64 e 69 kDa Tauopatía, triplete tau principal en 64 y 69 kda Taupatia com um tripleto tau major com 64 e 69 kDa hrdo:pat_id_13548 98531 group of phenomes Tauopathie associée à des doublets de 60 et 64 kDa majeurs de tau Tauopathie mit assoziiertem Tau-Triplett bei 60 und 64 und 69kda Tauopathy with a major tau doublet at 60 and 64 kDa Tauopatia con tripletta maggiore tau a 60 e 64 kDa Tauopatía, triplete tau principal en 60 y 64 y 69 kda Taupatia com um tripleto tau major com 60 e 64 kDa hrdo:pat_id_13549 98532 group of phenomes Tauopathie avec protéine tau majeure à 60 kDa Tauopathie mit assoziiertem Tau-Triplett bei 60kda Tauopathy with a major tau at 60 kDa Tauopatia con tripletta maggiore tau a 60 kDa Tauopatía, triplete tau principal en 60 kda Taupatia com um tripleto tau major com 60 kDa hrdo:pat_id_1355 1057 malformation syndrome Aneurisma intracraneal - anomalías congénitas múltiples Aneurismas intracranianos - anomalias congénitas múltiplas Aneurismi del cranio anomalie multiple Aneurysmen, intrakraniale - multiple kongenitale Anomalien Anévrysmes crâniens - anomalies multiples Intracranial aneurysms - multiple congenital anomalies hrdo:pat_id_13551 98534 group of phenomes Demência associada com doença neurodegenerativa Enfermedad neurodegenerativa con demencia Maladie neurodégénérative avec démence Malattia degenerativa con demenza Neurodegenerative Krankheit mit Demenz Neurodegenerative disease with dementia hrdo:pat_id_13552 neant G31.0 98535 group of phenomes Degeneración frontotemporal con demencia Degenerazione frontotemporale con demenza Demência com degeneração frontotemporal Dégénérescence fronto-temporale avec démence Frontotemporal degeneration with dementia Frontotemporale Degeneration mit Demenz hrdo:pat_id_13555 98538 group of phenomes Atassia con demenza Ataxia com demência Ataxia con demencia Ataxia with dementia Ataxie avec démence Ataxie mit Demenz hrdo:pat_id_13556 98539 group of phenomes Atassia ad esordio precoce con demenza Ataxia de início precoce com demência Ataxia, inicio temprano, con demencia Ataxie de début précoce avec démence Ataxie, früh beginnende, mit Demenz Early-onset ataxia with dementia hrdo:pat_id_13557 98540 group of phenomes Atassia a esordio tardivo con demenza Ataxia com demência de apresentação tardia, genética Ataxia con demencia de aparición tardía Ataxie de début tardif avec démence Ataxie, spät beginnende, mit Demenz, genetisch bedingte Late-onset ataxia with dementia hrdo:pat_id_13559 98542 group of phenomes Demencia, enfermedades infecciosas con Demência associada com doença infecciosa Infectious disease with dementia Infektionskrankheit mit Demenz Maladie infectieuse avec démence Malattia infettiva con demenza hrdo:pat_id_13560 98543 group of phenomes Demencia, enfermedad metabólica con Demência associada com doença metabólica Maladie métabolique avec démence Malattia metabolica con demenza Metabolic disease with dementia Stoffwechselkrankheit mit Demenz hrdo:pat_id_13561 98544 group of phenomes Cerebral lipidosis with dementia Demencia, lipidosis cerebral con Demência relacionada com lipidose cerebral Lipidodi cerebrale con demenza Lipidose cérébrale avec démence Zerebrale Lipidose mit Demenz hrdo:pat_id_13566 neant F01 98549 group of phenomes Cerebrovascular dementia Demencia, cerebrovascular Demenz, zerebrovaskuläre Demenza cerebrovascolare Demência cerebrovascular Démence cérébrovasculaire hrdo:pat_id_1357 neant 1060 disease Brunzell syndrome Syndrome de Brunzell Angiomatose kystique - syndrome de Seip Angiomatose quística sistémica - síndrome de Seip Angiomatose, systemische zystische - Seip-Syndrom Angiomatosi cistica sindrome di Seip Angiomatosis quística, Síndrome de Seip Angiomatosis systemic cystic - Seip syndrome hrdo:pat_id_13570 neant 98553 group of phenomes Anomalia do desenvolvimento ocular Anomalie du développement de l' œil Defectos del desarrollo ocular Developmental defect of the eye Difetto dello sviluppo dell'occhio Entwicklungsdefekt der Augen hrdo:pat_id_13571 98554 group of phenomes Anomalia dos principais processos de indução ocular Anomalie de l'oeil par altération des processus d'induction oculaire majeurs Anomalie oculari dei maggiori processi d'induzione Anomalía ocular de los principales procesos de inducción Augenanomalie bei Anlagestörung Major induction processes eye anomaly hrdo:pat_id_13572 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q11.0 Q11.1 Q11.2 98555 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Anoftalmia - microftalmia Anoftalmia - microftalmia Anoftalmia - microftalmia Anophtalmie - Mikrophtalmie Anophtalmie - microphtalmie Anophthalmia - microphthalmia hrdo:pat_id_13574 98557 group of phenomes Aniridia sindromica Aniridia sindrómica Aniridia, sindrómica Aniridie syndromique Aniridie, syndromale Syndromic aniridia hrdo:pat_id_13575 98558 group of phenomes Augenkrankheit bei Differenzierungsanomalie Doença ocular por anomalia de diferenciação, rara Enfermedad de la vista debido a una anomalía en la diferenciación, rara Maladie de l'œil due à une anomalie de la différentiation Malattia oculare rara da anomalia di differenziazione Rare eye disease due to a differentiation anomaly hrdo:pat_id_13576 98559 group of phenomes Doença palpebral, do sistema lacrimal e da conjuntiva, rara Enfermedades de los párpados, sistema lacrimal y conjuntivo, rara Maladie rare de la paupière, de l'appareil lacrymal et de la conjonctive Malattie rare del sistema lacrimale, delle palpebre e della congiuntiva Rare palpebral, lacrimal system and conjunctival diseases Seltene Krankheiten des palpebralen, lakrimalen und konjunktivalen Systems hrdo:pat_id_13577 98560 group of phenomes Doença palpebral, rara Enfermedad de los párpados, rara Maladie rare de la paupière Malattia rara delle palpebre Palpebraler Defekt, seltener Rare palpebral disease hrdo:pat_id_13578 98561 group of phenomes Augenlid-Fehlbildung Eyelid malformation Malformation de la paupière Malformazione delle palpebre Malformação da pálpebra Párpados, malformación hrdo:pat_id_13579 98562 group of phenomes Criptoftalmia Criptoftalmia Criptoftalmia Cryptophtalmie Cryptophthalmia Kryptophthalmie hrdo:pat_id_13580 neant Q10.3 98563 group of phenomes Microblefaron - ablefaria Microblefaron - ablefaria Microblefaron - ablefaria Microblepharon - ablephara Microblépharon - ablépharie Mikroblepharon - Ablepharie hrdo:pat_id_13581 98564 group of phenomes Anomalia del bordo palpebrale Anomalia do bordo palpebrar Anomalie du bord libre de la paupière Anomalía de los bordes de los párpados Augenlidkante, Anomalie der Eyelid border anomaly hrdo:pat_id_13582 98565 group of phenomes Anchiloblefaron sindromico Ankyloblepharon, syndromales Ankyloblépharon syndromique Anquiloblefaron sindrómico Anquiloblefaron, sindrómico Syndromic ankyloblepharon hrdo:pat_id_13583 98566 group of phenomes Coloboma palpebral, sindrómico Coloboma palpebrale sindromico Coloboma palpebrar, sindrómico Colobome palpébral syndromique Kolobom, palpebrales syndromales Syndromic palpebral coloboma hrdo:pat_id_13584 98567 group of phenomes Augenlider, Fehlstellung der Disturbo da malposizione delle palpebre Doença pálpebras mal posicionadas Eyelids malposition disorder Malposition du bord libre de la paupière Trastorno por mala posición de los párpados hrdo:pat_id_13585 10014923 neant Q10.2 98568 20392000 C0266579 group of phenomes Congenital entropion Ectropion congenito Entropion congénital Entropion congénito Entropium, kongenitales Entropión, congénita hrdo:pat_id_13586 neant H02.0 98569 group of phenomes Ectropion secondario Entropion secondaire Entropion secundário Entropium, sekundäres Entropión, secundaria Secondary entropion hrdo:pat_id_13587 neant Q10.1 98570 26590002 C0266578 group of phenomes Congenital ectropion Ectropion congenito Ectropion congénital Ectropion congénito Ectropión, congénita Ektropium, kongenitales hrdo:pat_id_13588 neant H02.1 98571 group of phenomes Ectropion secondaire Ectropion secondario Ectropion secundário Ectropión, secundaria Ektropium, sekundäres Secondary ectropion hrdo:pat_id_13589 98572 group of phenomes Anomalia cantal Anomalia cantale Anomalie des canthus Canthal anomaly Canthal, anomalía Lidwinkel-Anomalie hrdo:pat_id_1359 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 106070 C536364 neant D18.0 1062 403775003 C1275084 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Angiom, hereditäres neurokutanes Angioma neuro-cutâneo hereditário Angiomatose neurocutanée héréditaire Angiomatosi neurocutanea ereditaria Angiomatosis neurocutánea hereditaria Hereditary neurocutaneous angioma hrdo:pat_id_13590 neant Q10.3 98573 group of phenomes Epicanthal fold Epikanthus lateralis/medialis Piega epicantica Pliegue epicántico Plis épicanthaux Prega epicântica hrdo:pat_id_13591 98574 group of phenomes Epicanthus syndromique Epicanto sindromico Epicanto sindrómico Epicanto, sindrómico Epikanthus, syndromaler Syndromic epicanthus hrdo:pat_id_13592 neant Q10.3 98575 246803005 C0423113 group of phenomes Telecanthus Telecanto Telecanto Telecanto Telekanthus Télécanthus hrdo:pat_id_13593 neant Q10.3 98576 group of phenomes Canto, malposición externa Lidwinkel, externe Fehlstellung des Malposition canthale externe Malposition of external canthus Malposizione esterna degli angoli palpebrali Má posição do canto externo hrdo:pat_id_13594 98577 group of phenomes Anomalia cinetica delle palpebre Anomalia cinética da pálpebra Anomalie de la cinétique de la paupière Anomalía de los párpados, cinética Augenlidanomalie, kinetische Kinetic eyelid anomaly hrdo:pat_id_13595 D001763 10015995 10037272 98578 11934000 C0005745 C0033377 group of phenomes Ptose Ptosi Ptosis Ptosis Ptosis Ptosis hrdo:pat_id_13596 neant H02.5 98579 group of phenomes Congenital upper palpebral retraction Retracción palpebral superior, congénita Retrazione congenita delle palpebre superiori Retração da pálpebra superior, congénita Rétraction congénitale de la paupière supérieure Unterlidretraktion, palpebrale, kongenitale hrdo:pat_id_13597 98580 group of phenomes Palpebral tumor Tumeur de la paupière Tumor da pálpebra Tumor palpebral Tumor, palpebraler Tumore palpebrale hrdo:pat_id_13598 98581 group of phenomes Palpebral epidermal tumor Tumeur épidermique de la paupière Tumor epidérmico da pálpebra Tumor epidérmico palpebral Tumor, epidermaler palpebraler Tumore epidermico delle palpebre hrdo:pat_id_13599 98582 group of phenomes Benign tumor of palpebral epidermis Beninger Tumor der palpebralen Epidermis Tumeur bénigne de l'épiderme de la paupière Tumor benigno da epiderme da pálpebra Tumor benigno de la epidermis palpebral Tumore benigno dell'epidermide palpebrale hrdo:pat_id_1360 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 206750 C536371 neant Q87.8 1064 C1859782 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome di Sommer-Rathbun-Battles Sommer-Rathbun-Battles syndrome Sommer-Rathbun-Battles-Syndrom Síndrome de Sommer-Rathbun-Battles Aniridia - agenesia renal - atraso psicomotor Aniridia - agenesia renal - retraso psicomotor Aniridia - agenesia renale - ritardo psicomotorio Aniridia - renal agenesis - psychomotor retardation Aniridie - Nierenagenesie - psychomotorische Retardierung Aniridie - agénésie rénale - retard psychomoteur hrdo:pat_id_13600 98583 group of phenomes Lesione precancerosa dell'epidermide palpebrale Lesión precancerosa de la epidermis palpebral Lesão pré-cancerígena da epiderme da pálpebra Lésion précancéreuse de l'épiderme de la paupière Palpebrale Epidermis, präkanzeröse Läsion der Pre-cancerous lesion of palpebral epidermis hrdo:pat_id_13601 98584 group of phenomes Malignant tumor of palpebral epidermis Palpebrale Epidermis, maligner Tumor der Tumeur maligne de l'épiderme de la paupière Tumor maligno da epiderme da pálpebra Tumor maligno de la epidermis de los párpados Tumore maligno dell'epidermide palpebrale hrdo:pat_id_13602 98585 group of phenomes Palpebral sebaceus gland tumor Talgdrüsentumor, palpebraler Tumeur des glandes sébacées de la paupière Tumor das glândulas sebáceas da pálpebra Tumor de la glándula sebácea palpebral Tumore delle ghiandole sebacee delle palpebre hrdo:pat_id_13603 98586 group of phenomes Pigmented palpebral tumor Tumeur pigmentée de la paupière Tumor palpebral, pigmentado Tumor pigmentado palpebral Tumor, palpebraler pigmentierter Tumore pigmentato delle palpebre hrdo:pat_id_13604 98587 group of phenomes Lentigginosi palpebrale Lentigine de la paupière Lentiginose palpebral Lentiginosis palpebral Lentiginosis, palpebrale Palpebral lentiginosis hrdo:pat_id_13605 98588 231827008 C0239460 group of phenomes Naevus, palpebraler Nevo palpebral Nevo palpebrale Nevus de la paupière Nevus palpebral Palpebral nevus hrdo:pat_id_13606 10063706 98589 231834005 C0339116 group of phenomes Melanom, malignes palpebrales Melanoma maligno delle palpebre Melanoma maligno palpebral Melanoma maligno palpebral Mélanome malin de la paupière Palpebral malignant melanoma hrdo:pat_id_13607 98590 group of phenomes Palpebral piliary tumor Tumeur d'origine pilaire de la paupière Tumor palpebral piliar Tumor piliar palpebral Tumor, palpebraler piliärer Tumore piliare delle palpebre hrdo:pat_id_13608 98591 group of phenomes Mesenchymatous palpebral tumor Tumeur mésenchymateuse de la paupière Tumor mesenquimatoso palpebral Tumor palpebral, mesenquimatoso Tumor, mesenchymatöser palpebraler Tumore mesenchimatoso delle palpebre hrdo:pat_id_13609 98592 group of phenomes Palpebral tumor with a vascular malformation Tumeur de la paupière avec malformation vasculaire Tumor palpebral com malformação vascular Tumor palpebral con malformaciones vasculares Tumor, palpebraler, mit vaskulärer Fehlbildung Tumore delle palpebre con una malformazione vascolare hrdo:pat_id_13610 98593 group of phenomes Neurogenic palpebral tumor Tumeur neurogène de la paupière Tumor palpebral, neurogénico Tumor palpebral, neurogénico Tumor, neurogener palpebraler Tumore neurogenico delle palpebre hrdo:pat_id_13611 98594 group of phenomes Anomalia das sobrancelhas/pestanas, rara Anomalia rara delle sopracciglia-ciglia Anomalies des cils ou des sourcils Anomalías de las cejas y pestañas, rara Augenbrauen/Augenwimpern-Anomalie, seltene Rare eyebrow/eyelashes anomaly hrdo:pat_id_13612 98595 group of phenomes Augenbrauen/Augenwimpern-Hypertrichose Cejas - pestañas, hipertricosis Eyebrow/eyelashes hypertrichosis Hipertricose das sobrancelhas/pestanas Hypertrichose des cils ou des sourcils Ipertricosi delle sopracciglia-ciglia hrdo:pat_id_13613 98596 group of phenomes Augenbrauen-Hypertrophie Eyebrow hypertrophy Hipertrofia das sobrancelhas Hipertrofia de las cejas Hypertrophie des sourcils Ipertrofia delle sopracciglia hrdo:pat_id_13614 98597 group of phenomes Augenwimper-Polytrichie Augenwimper-Trichomegalie Eyelashes polytrichia Eyelashes trichomegalia Politrichia delle ciglia Polytrichie des cils Trichomégalie des cils Tricomegalia delle ciglia Augenwimper-Hypertrophie Eyelashes hypertrophy Hipertrofia das pestanas Hipertrofia de las pestañas Hypertrophie des cils Ipertrofia delle ciglia hrdo:pat_id_13615 98598 group of phenomes Absence congénitale des cils ou des sourcils Assenza congenita delle sopracciglia e ciglia Augenbrauen und Augenwimpern, kongenitales Fehlen der Ausencia congénita de cejas y pestañas Ausência congénita das sobrancelhas/pestanas Congenital absence of the eyebrow/eyelashes hrdo:pat_id_13616 98599 group of phenomes Anomalia estrutural das sobrancelhas/pestanas Anomalia strutturale delle sopracciglia e ciglia Anomalie de structure des cils ou des sourcils Anomalía estructural de cejas y pestañas Augenbrauen und Augenwimpern, Strukturanomalie der Eyebrow/eyelashes structural anomaly hrdo:pat_id_13617 98600 group of phenomes Distichiasi delle sopracciglia e ciglia Distichiasis Distichiasis des cils ou des sourcils Distiquiase das sobrancelhas/pestanas Distiquiasis de cejas y pestañas Eyebrow/eyelashes distichiasis hrdo:pat_id_13618 98601 group of phenomes Anomalia da pigmentação das sobrancelhas/pestanas Anomalie de la pigmentation des cils ou des sourcils Anomalías de la pigmentación de cejas y pestañas Augenbrauen und Augenwimpern, Pigmentanomalie der Eyebrow/eyelashes pigmentation anomaly Pigmentazione anomala delle sopracciglia e ciglia hrdo:pat_id_13619 98602 group of phenomes Doença do sistema lacrimal, rara Maladie rare de l'appareil lacrymal Malattia rara del sistema lacrimale Rare lacrimal system disease Seltene Krankheit der Tränenwege Sistema lacrimal, enfermedad, rara hrdo:pat_id_1362 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 1067 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Aniridia - ptose - atraso mental - obesidade, tipo familiar Aniridia - ptosi - ritardo mentale - obesità Aniridia - ptosis - déficit intelectual - obesidad familiar Aniridia - ptosis - intellectual deficit - familial obesity Aniridie - Ptosis - geistige Retardierung - Adipositas Aniridie - ptosis - déficit intellectuel - obésité hrdo:pat_id_13620 98603 group of phenomes Anomalia dell'apparato secretorio del sistema lacrimale Anomalie de l'appareil sécréteur du système lacrymal Aparato secretor del sistema lacrimal, enfermedad Aparelho secretório do sistema lacrimal, anomalia do Secretory apparatus of the lacrimal system anomaly Störung des sekretorischen Apparates der Tränenwege hrdo:pat_id_13621 neant 98604 group of phenomes Alacrima congénita Alacrima congénita Alacrimia congenita Alacrymie congénitale Alakrimie, kongenitale Congenital alacrima hrdo:pat_id_13622 98605 group of phenomes Anomalia dell'apparato escretorio del sistema lacrimale Anomalie de l'appareil excréteur du système lacrymal Aparato excretor del sistema lacrimal, enfermedad Aparelho excretor do sistema lacrimal, anomalia de Excretory apparatus of the lacrimal system anomaly Störung des exkretorischen Apparates der Tränenwege hrdo:pat_id_13623 165600 neant 98606 malformation syndrome Sindrome di Urrets-Zavalia Syndrome d'Urrets-Zavalia Urrets-Zavalia syndrome Urrets-Zavalia-Syndrom Hipoplasia sindrómica del borde orbitario Hipoplasia sindrómica do bordo orbital Hypoplasie syndromique du rebord orbitaire Ipoplasia sindromica del bordo orbitario Orbita-Hypoplasie, syndromale Syndromic orbital border hypoplasia hrdo:pat_id_13625 98608 group of phenomes Anomalia dell'apparato secretorio e escretorio del sistema lacrimale Anomalie conjointe de l'appareil excréteur et sécréteur du système lacrymal Anomalie des sekretorisch/exkretorisch Apparates der Tränenwege Anomaly of the secretory and excretory apparatus of the lacrimal system Anomalía del aparato secretor y excretor del sistema lacrimal Aparelhos secretor e excretor do sistema lacrimal, anomalia dos hrdo:pat_id_13626 98609 group of phenomes EEC syndrome and related syndrome EEC-Syndrome und verwandte Störungen Ectrodactilia - displasia ectodérmica, labio leporino-paladar hendido, sindrómico y no sindrómico Ectrodattilia - displasia ectodermica - sindrome legata a labiopalatoschisi Syndrome EEC et syndrome apparenté Síndrome relacionado com ectrodactilia - displasia ectodérmica - fenda do lábio/palato hrdo:pat_id_13627 98610 group of phenomes Bindehautkrankheit, seltene Conjuntiva, enfermedad, rara Doença da conjuntiva, rara Maladie rare de la conjonctive Malattia congiuntivale rara Rare conjunctival disease hrdo:pat_id_13628 98611 group of phenomes Anomalia congiuntivale vascolare Anomalia conjuntival vascular Anomalie vasculaire de la conjonctive Anomalía vascular conjuntiva Bindehautanomlie, vaskuläre Conjunctival vascular anomaly hrdo:pat_id_13629 98612 group of phenomes Conjunctival hemangioma or hemolymphangioma Emangioma congiuntivale e emolinfangioma Hemangioma ou hemolinfangioma da conjuntiva Hemangioma y hemolimfangioma conjuntivo Hämangiom/Hämolymphangiom, konjunktivales Hémangiome ou hémolymphangiome de la conjonctive hrdo:pat_id_1363 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant 1068 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome di Walker-Dyson Syndrome de Walker-Dyson Síndrome de Walker-Dyson Walker-Dyson syndrome Walker-Dyson-Syndrom Aniridia-intellectual deficit syndrome Aniridie - déficit intellectuel Aniridie - geistige Retardierung Sindrome aniridia-ritardo mentale Síndrome de aniridia - atraso mental Síndrome de aniridia - déficit intelectual hrdo:pat_id_13630 98613 group of phenomes Conjunctival telangiectasia Telangiectasia congiuntivale Telangiectasia conjuntiva Telangiectasia da conjuntiva Telangiektasie, konjunktivale Télangiectasie de la conjonctive hrdo:pat_id_13631 98614 231871007 C0339186 group of phenomes Conjunctival lymphangiectasia Linfangiectasia congiuntivale Linfangiectasia conjuntiva Linfangiectasia da conjuntiva Lymphangiectasie de la conjonctive Lymphangiektasie, konjunktivale hrdo:pat_id_13632 98615 group of phenomes Bindehautläsion, pigmentierte Lesione congiuntivale pigmentata Lesión conjuntiva, pigmentada Lesão pigmentada da conjuntiva Lésion pigmentée de la conjonctive Pigmented conjunctival lesion hrdo:pat_id_13633 98616 group of phenomes Bindehauttumor Conjunctival tumor Tumeur de la conjonctive Tumor conjuntivo Tumor da conjuntiva Tumore congiuntivale hrdo:pat_id_13634 98617 group of phenomes Bulbar conjunctival dermoid or conjunctival dermolipoma Dermoid/Dermolipom, konjunktivales Dermolipoma conjuntivo y dermoide bulbar conjuntivo Dermolipoma e dermoide bulbare congiuntivale Dermoïde bulbaire ou dermolipome de la conjonctive Dermóide bulbar da conjuntiva ou dermolipoma da conjuntiva hrdo:pat_id_13635 98618 group of phenomes Anomalia rara della rifrazione Anomalia refrativa, rara Anomalie rare de la réfraction Rare refraction anomaly Refracción, enfermedad Refraktionsstörun, seltene hrdo:pat_id_13636 614292 neant 98619 disease Miopia isolada rara Miopia isolata rara Miopía, aislada, rara Myopie isolée rare Myopie, isolierte, seltene Rare isolated myopia hrdo:pat_id_13637 98620 group of phenomes Miopia sindromica Miopia sindrómica Miopía, sindrómica Myopie syndromique Myopie, syndromale Syndromic myopia hrdo:pat_id_13638 98621 group of phenomes Hipermetropía y astigmatismo, rara Hiperopia e astigmatismo, raros Hypermétropie et astigmatisme rares Hyperopie und Astigmatismus, selten Iperopia e astigmatismo rari Rare hyperopia and astigmatism hrdo:pat_id_13639 98622 group of phenomes Hiperopia sindrómica Hiperopia, sindrómica Hypermétropie syndromique Hyperopie, syndromale Iperopia sindromica Syndromic hyperopia hrdo:pat_id_1364 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 106220 neant Q87.8 1069 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Aniridia - absent patella Aniridia - agenesia della rotula Aniridia - ausência de rótula Aniridia ausencia de rótula Aniridie - Patellaaplasie Aniridie - rotule absente hrdo:pat_id_13640 98623 group of phenomes Cheratocono sindromico Keratokonus, syndromaler Queratocone sindrómico Queratocono, sindrómica Syndromes comprenant un keratokone Syndromic keratoconus hrdo:pat_id_13642 Variabel Variabile Variable Variable Variable Variable Variável neant H18.5 98625 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Anterior corneal dystrophy Disstrofia corneale anteriore Distrofia corneal anterior Dystrophie cornéenne antérieure Hornhautdystrophie, anteriore Distrofia corneal superficial Distrofia corneale superficiale Distrofia da córnea anterior Dystrophie cornéenne superficielle Hornhautdystrophie, superfizielle Superficial corneal dystrophy hrdo:pat_id_13643 Variabel Variabile Variable Variable Variable Variable Variável neant H18.5 98626 231931001 C0038457 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Distrofia corneal estromal Distrofia corneale stromale Distrofia do estroma da córnea Dystrophie cornéenne stromale Hornhautdystrophie, stromale Stromal corneal dystrophy hrdo:pat_id_13644 Variabel Variabile Variable Variable Variable Variable Variável neant H18.5 98627 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Distrofia corneal posterior Distrofia corneale posteriore Distrofia da córnea posterior Dystrophie cornéenne postérieure Hornhautdystrophie, posteriore Posterior corneal dystrophy hrdo:pat_id_13645 98628 group of phenomes Distrofia corneale sindromica Distrofia muscular de la córnea, sindrómica Distrofia sindrómica da córnea Dystrophie cornéenne syndromique Hornhautdystrophie, syndromale Syndromic corneal dystrophy hrdo:pat_id_13646 98629 group of phenomes Glaucoma raro Glaucoma raro Glaucoma, raro Glaucome rare Glaukom, seltenes Rare glaucoma hrdo:pat_id_13648 98631 group of phenomes Glaucoma disgenético secundário Glaucoma secondario disgenetico Glaucoma, secondary dysgenetic Glaucome secondaire dysgénésique Iridogoniodisginesia, secundaria Secondary dysgenetic glaucoma hrdo:pat_id_13649 98632 group of phenomes Anomalia di migrazione delle cellule della cresta neurale con glaucoma Anomalía de la migración de células de la cresta neural con glaucoma Glaucoma associado a anomalia da migração celular da crista neural Glaucoma associated with neural crest cell migration anomaly Glaucome associé à une anomalie de la migration des cellules de la crête neurale Migrationsanomalie der Neuralleistenzellen mit Glaukom hrdo:pat_id_1365 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 106260 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Ankyloblepharon+AND+ectodermal+dysplasia+AND+%28cleft+lip+OR+cleft+palate%29 Q82.4 1071 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown AEC syndrome AEC, síndrome AEC-Syndrom Hay-Wells syndrome Hay-Wells, síndrome de Hay-Wells-Syndrom Sindrome AEC Sindrome di Hay-Wells Syndrome AEC Syndrome de Hay-Wells Síndrome AEC Síndrome de Hay-Wells Anchiloblefaron - anomalie ectodermiche - labiopalatoschisi Ankyloblepharon - ectodermal defects - cleft lip/palate Ankyloblepharon - ektodermale Defekte - Lippen-Kiefer-Gaumenspalte Ankyloblépharon - anomalies ectodermiques - fente labiopalatine Anquiloblefaro - alterações ectodérmicas - fenda lábio-palatina Anquilobléfaron - displasia ectodérmica - fisura labiopalatina hrdo:pat_id_13650 98633 251730004 C0311237 group of phenomes Gonio-dysgénésie Goniodisgenesia Goniodisgenesia Goniodisgenesia Goniodysgenesie Goniodysgenesis hrdo:pat_id_13651 98634 group of phenomes Irido-gonio-dysgénésie Iridogoniodisgenesia Iridogoniodisgenesia Iridogoniodisgenesia Iridogoniodysgenesie Iridogoniodysgenesis hrdo:pat_id_13652 98635 group of phenomes Corneogoniodisgenesia Corneogoniodisgenesia Corneogoniodisgenesia Corneogoniodysgenesie Corneogoniodysgenesis Cornéo-gonio-dysgénésie hrdo:pat_id_13653 98636 group of phenomes Corneoiridogoniodisgenesia Corneoiridogoniodisgenesia Corneoiridogoniodisgenesia Corneoiridogoniodysgenesie Corneoiridogoniodysgenesis Cornéo-irido-gonio-dysgénésie hrdo:pat_id_13654 98637 group of phenomes Glaucoma secondario da anomalia di differenziazione e proliferazione Glaucoma secundário por anomalia da proliferação e da diferenciação Glaucoma, secundario, debido a una anomalía en la proliferación y diferenciación Glaucome secondaire à une anomalie de la différenciation ou de la prolifération Glaukom, sekundäres durch Proliferierungs- und Differenzierungsanomalien Secondary glaucoma due to a proliferation and differentiation anomaly hrdo:pat_id_13655 98638 group of phenomes Glaucoma sindromico Glaucoma sindrómico Glaucoma, sindrómico Glaucome syndromique Glaukom, syndromales Syndromic glaucoma hrdo:pat_id_13656 98639 group of phenomes Anomalia del cristallino e della zonula Anomalia do cristalino e da zónula Anomalie du cristallin et de la zonule Anomalía de las lentes y zónula Lens and zonula anomaly Linsen/Zonula-Anomalie hrdo:pat_id_13657 98640 group of phenomes Cataracte rare Catarata, rara Catarata, rara Cataratta rara Katarakt, seltene Rare cataract hrdo:pat_id_13658 98641 group of phenomes Cataracte syndromique Catarata sindrómica Catarata, sindrómica Cataratta sindromica Katarakt, syndromale Syndromic cataract hrdo:pat_id_13659 98642 group of phenomes Anomalie chromosomique avec cataracte Anomalía cromosómica con una posible catarata Cataratas associadas a anomalia cromossómica Cataratta associata a anomalia cromosomica Chromosomal anomaly with cataract Katarakt mit assoziierter Chromosomenanomalie hrdo:pat_id_1366 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 106250 1072 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Anchiloblefaron - schisi palatina Ankyloblepharon filiforme adnatum - cleft palate Ankyloblepharon filiformis mit Gaumenspalte Ankyloblépharon - fente palatine Anquiloblefaro filiforme congénito - fenda do palato Anquilobléfaron fisura palatina hrdo:pat_id_13660 98643 group of phenomes Cataratas associadas a doença sistémica Cataratta associata a malattia sistemica Enfermedad sistémica con una posible catarata Katarakt mit assoziierter systemischer Krankheit Maladie systémique avec cataracte Systemic disease with cataract hrdo:pat_id_13661 98644 group of phenomes Cataract associated with a metabolic disease Cataratas associadas a doença metabólica Cataratta associata a malattia metabolica Enfermedad metabólica con una posible catarata Katarakt mit assoziierter Stoffwechselkrankheit Maladie métabolique avec cataracte hrdo:pat_id_13662 98645 group of phenomes Cataratas associadas a doença cerebral Cataratta associata a malattia cerebrale Cerebral disease with cataract Infección cerebral con una posible catarata Katarakt mit assoziierter zerebraler Krankheit Maladie cérébrale avec cataracte hrdo:pat_id_13663 98646 group of phenomes Cataratas associadas a doença renal Cataratta associata a malattia renale Enfermedad renal con una posible catarata Katarakt mit assoziierter Nierenkrankheit Maladie rénale avec cataracte Renal disease with cataract hrdo:pat_id_13664 98647 group of phenomes Cardiac disease with cataract Cataratas associadas a doença cardíaca Cataratta associata a malattia cardiaca Enfermedad cardíaca con una posible catarata Katarakt mit assoziierter Herzkrankheit Maladie cardiaque avec cataracte hrdo:pat_id_13665 98648 group of phenomes Cataratas associadas a doença musculoesquelética Cataratta associata a malattia muscoloscheletrica Enfermedad musculoesquelética con una posible catarata Katarakt mit assoziierter muskulo-skeletaler Krankheit Maladie musculo-squelettique avec cataracte Musculoskeletal disease with cataract hrdo:pat_id_13666 98649 group of phenomes Cataratas associadas a doença dentocutânea Cataratta associata a malattia dentocutanea Dentocutaneous disease with cataract Enfermedad dentocutánea con una posible catarata Katarakt mit assoziierter dento-kutaner Krankheit Maladie dento-cutanée avec cataracte hrdo:pat_id_13667 98650 group of phenomes Anomalie craniofaciale avec cataracte Cataratas associadas a anomalia craniofacial Cataratta associata a anomalia craniofacciale Craniofacial anomaly with cataract Enfermedad craneofacial con una posible catarata Katarakt mit assoziierter kraniofazialer Anomalie hrdo:pat_id_13669 98652 group of phenomes Anomalia delle dimensioni del cristallino Anomalia do tamanho do cristalino Anomalie de taille du cristallin Anomalía en el tamaño de las lentes Lens size anomaly Linsenanomalie (Größe) hrdo:pat_id_13670 neant Q12.1 98653 group of phenomes Anomalia da posição do cristalino Anomalia della posizione del cristallino Anomalie de position du cristallin Anomalía en la posición de las lentes Lens position anomaly Linsenanomalie (Position) hrdo:pat_id_13672 98655 group of phenomes Anomalia da forma do cristalino Anomalia della forma del cristallino Anomalie de forme du cristallin Anomalía en la forma de las lentes Lens shape anomaly Linsenanomalie (Form) hrdo:pat_id_13674 98657 group of phenomes Doença vítreo-retiniana Genetic vitreous-retinal disease Maladie génétique de la rétine et du vitré Malattia vitreo-retinica Vitreoretinale Krankheit Vitreoretiniana, enfermedad hrdo:pat_id_13675 neant H53.5 98658 group of phenomes Color-vision disease Doença da visão cromática Farbsehstörung Malattia della visione a colori Trouble de la vision des couleurs Visión en color, enfermedad hrdo:pat_id_13678 98661 group of phenomes Retinite pigmentosa sindromica Retinite pigmentosa sindrómica Retinitis pigmentosa, syndromale Retinosis pigmentaria sindrómica Rétinite pigmentaire syndromique Syndromic retinitis pigmentosa hrdo:pat_id_13679 98662 group of phenomes Distrofia da retina hereditária, outras Distrofia retinica ereditaria non classificata Dystrophie rétinenne syndromique non classifiée Netzhautdystrophie, hereditäre, sonstige Otra distrofia retiniana hereditaria Unclassified familial retinal dystrophy hrdo:pat_id_1368 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q87.8 1074 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Aughton-Hufnagle syndrome Aughton-Hufnagle-Syndrom Sindrome di Aughton-Hufnagle Syndrome d'Aughton-Hufnagle Síndrome de Aughton-Hufnagle Anchiloblefaron filiforme - imperforazione anale Ankyloblepharon filiforme - imperforate anus Ankyloblepharon filiformis mit Anus imperforatus Ankyloblépharon filiforme - imperforation anale Anquiloblefaro filiforme - ânus imperforado Anquilobléfaron filiforme - imperforación anal hrdo:pat_id_13681 neant H35.5 98664 group of phenomes Distrofia macular genética Distrofia macular, genética Distrofia maculare genetica Dystrophie maculaire génétique Genetic macular dystrophy Makuladystrophie, genetisch bedingte hrdo:pat_id_13682 98665 group of phenomes Colobomatous and areolar dystrophy Distrofia areolare e colobomatosa Distrofia colobomatosa e areolar Distrofia colobomatosa y areolar Dystrophie aréolaire et colobomateuse Dystrophie, areoläre und kolobomatöse hrdo:pat_id_13683 98666 group of phenomes Maculopathie primaire ou secondaire non classifiée Maculopatia primaria o secondaria non classificata Maculopatia primária ou secundária, outras Makulopathie, primäre oder sekundäre, sonstige Otra maculopatía primaria o secundaria Unclassified primitive or secondary maculopathy hrdo:pat_id_13684 98667 group of phenomes Disease predisposing to age-related macular degeneration Doença que predispõe para degeneração macular relacionada com a idade Enfermedad que predispone a la degeneración macular senil relacionada con la edad Krankheit mit Prädisposition für altersabhängige Makulardegeneration Malattia che predispone a degenerazione maculare età-correlata Prédisposition à la dégénérescence maculaire liée à l'âge hrdo:pat_id_13685 98668 group of phenomes Vitreoretinopathie Vitreoretinopathy Vitreoretinopatia Vitreorretinopatia Vitreorretinopatía Vitréorétinopathie hrdo:pat_id_13686 neant Q14.1 98669 group of phenomes Congenital vitreoretinal dysplasia Displasia vitreoretiniana congénita Displasia vitreoretinica congenita Displasia vitreorretiniana congénita Dysplasie vitréorétinienne congénitale Dysplasie, vitreoretinale, kongenitale hrdo:pat_id_13687 neant H35.5 98670 247182006 C0344290 group of phenomes Degeneración vitreoretinal Degenerazione vitreoretinica Degeneração vitreorretiniana Dégénérescence vitréorétinienne Vitreoretinal degeneration Vitreoretinale Degeneration hrdo:pat_id_13688 10061323 98671 group of phenomes Neuropathie optique Neuropatia ottica Neuropatia ótica Neuropatía óptica Optic neuropathy Optikus-Neuropathie hrdo:pat_id_13689 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter D029241 neant H47.2 98672 2065009 C0338508 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 ADOA AOAD AOD AOD DOA DOA DOA DOA Atrofia ottica autosomica dominante Atrofia óptica autosómica dominante Atrophie optique autosomique dominante Autosomal dominant optic atrophy Neuropatia ótica, autossómica dominante Optikusatrophie, autosomal-dominante hrdo:pat_id_13690 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 165500 605293 610708 neant H47.2 98673 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Atrofia ottica autosomica dominante, tipo Kjer Atrofia óptica autosómica dominante, tipo Kjer Atrophie optique autosomique dominante de Kjer Autosomal dominant optic atrophy, Kjer type Enfermedad de Kjer Kjer disease Maladie de Kjer Malattia di Kjer Atrofia ottica autosomica dominante, tipo classico Atrofia óptica autosómica dominante, tipo clásico Atrofia ótica, tipo OPA1 Atrophie optique autosomique dominante classique Autosomal dominant optic atrophy, classic type Optikusatrophie, Typ OPA1 hrdo:pat_id_13692 neant H47.2 98675 group of phenomes Atrofia ottica, autosomica recessiva Atrofia óptica autosómica recesiva Atrophie optique autosomique récessive Autosomal recessive optic atrophy Neuropatia ótica, autossómica recessiva Optikusatrophie, autosomal-rezessive hrdo:pat_id_13693 neant H47.2 98676 group of phenomes Atrofia ottica isolata, autosomica recessiva Atrofia óptica aislada autosómica recesiva Atrophie optique isolée autosomique récessive Autosomal recessive isolated optic atrophy Neuropatia ótica isolada, autossómica recessiva Optikusatrophie, autosomal-rezessive isolierte hrdo:pat_id_13694 neant H47.2 98677 group of phenomes Atrofia ottica sindromica, autosomica recessiva Atrofia óptica sindrómica autosómica recesiva Atrophie optique syndromique autosomique récessive Autosomal recessive syndromic optic atrophy Neuropatia ótica sindrómica, autossómica recessiva Optikusatrophie, autosomal-rezessive, syndromale hrdo:pat_id_13695 neant H47.2 98678 group of phenomes Atrofia ottica recessiva legata all'X Atrofia óptica recesiva ligada al X Atrophie optique liée à l'X Neuropatia ótica, ligada ao X recessiva Optikusatrophie, X-chromosomal-rezessive X-linked recessive optic atrophy hrdo:pat_id_13698 98681 group of phenomes Estrabismo con un síndrome de restricción, rara Estrabismo e síndrome de restrição, raros Rare strabismus and restriction syndrome Strabisme rare avec syndrome de restriction Strabismo con una sindrome restrittiva rara Strabismus mit Restriktionssyndrom, selten hrdo:pat_id_13699 98682 disease Essential strabismus Estrabismo esencial Estrabismo essencial Strabisme essentiel Strabismo essenziale Strabismus, essentieller hrdo:pat_id_137 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 268240 D012213 10039054 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Rheumatic+fever%5Bti%5D+OR+Rheumatic+fever%5Bmajr%5D I00 I01 3099 26424001 58718002 C0035436 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Acute rheumatic fever Febre reumática Febbre reumatica Fiebre reumática Reumatismo articular agudo (RAA) Rheumatic fever Rheumatisches Fieber Rhumatisme articulaire aigu hrdo:pat_id_13700 98683 group of phenomes Sindrome con strabismo sintomatico Strabisme syndromique Strabismus, syndromale Formen Syndrome with a symptomatic strabismus Síndrome com Estrabismo sintomático Síndrome con estrabismo sintomático hrdo:pat_id_13701 98684 group of phenomes Craneostenosis asociada con estrabismo Cranioestenose associada com estrabismo Craniostenosi associata a strabismo Craniostenosis associated with a strabismus Craniosynostose avec strabisme Kraniostenose mit assoziiertem Strabismus hrdo:pat_id_13702 98685 group of phenomes Oculomotor palsy Okulomotorische Lähmung Paralisi oculomotoria Paralisia oculomotora Paralysie oculomotrice Parálisis Oculomotora hrdo:pat_id_13703 neant H49.1 98686 group of phenomes Congenital trochlear nerve palsy Paralisi congenita del nervo trocleare Paralisia do nervo troclear, congénita Paralysie congénitale du nerf trochléaire Parálisis del nervio troclear, congénita Trochlearislähmung, kongenitale hrdo:pat_id_13704 98687 group of phenomes Paralisi oculomotoria sopranucleare Paralisia oculomotora supranuclear Paralyse, okulomotorische supranukleäre Paralysie oculomotrice supranucléaire Parálisis supranuclear oculomotora Supranuclear oculomotor palsy hrdo:pat_id_13705 98688 group of phenomes Aprassia oculomotoria e malattie oculomotorie associate Apraxia oculomotora e doenças oculomotora relacionada Apraxia oculomotora y enfermedades oculomotoras relacionadas Apraxie oculomotrice ou maladie oculomotrice apparentée Oculomotor apraxia or related oculomotor disease Okulomotorische Apraxie und verwandte okulomotorische Störungen hrdo:pat_id_13706 98689 group of phenomes Doença ocular associada a miopatia Miopatia con malattia oculare Miopatía con enfermedad ocular Myopathie avec atteinte ophtalmologique Myopathie mit assoziierter Augenkrankheit Myopathy with eye involvement hrdo:pat_id_13707 98690 group of phenomes Doença ocular associada a síndrome miasténico Myasthenic syndrome with eye involvement Myasthenisches Syndrom mit Augenkrankheit Sindrome miastenica associata a malattia oculare Syndrome myasténique avec atteinte ophtalmologique Síndrome miasténico con enfermedad ocular hrdo:pat_id_13708 98691 group of phenomes Abnormal eye movements Anomalia dos movimentos oculares Augenbewegungsstörung Mouvements anormaux de l'œil Movimenti anomali degli occhi Movimientos anormales de los ojos hrdo:pat_id_13709 98692 group of phenomes Anomalia del sistema nervoso con malattia oculare Anomalie des Nervensystems mit Augenkrankheit Anomalie du système nerveux avec atteinte ophtalmologique Anomalía del sistema nervioso con enfermedad ocular Doença ocular associada a anomalia do sistema nervoso Nervous system anomaly with eye involvement hrdo:pat_id_1371 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 125350 157950 D020254 10044019 neant K03.5 1077 14901003 C0155930 malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Anchilosi dei denti Ankylose des dents Ankylosis of teeth Anquilosis de los dientes Failure of teeth eruption Fallo de la erupción dental Fehlender Zahndurchbruch Mancata eruzione dei denti Retención secundaria de los molares permanentes Ritenzione secondaria dei molari permanenti Secondary retention of permanent molars Sekundäre Retention der permanenten Molaren Zahndurchbruchstörung Anchilosi dentale Ankylose dentaire Ankylose der Zähne Anquilose dos dentes Anquilosis dental Dental ankylosis hrdo:pat_id_13710 98693 group of phenomes Atassia spinocerebellare con anomalia oculomotoria Ataxia espinocerebelosa com anomalia oculomotora Ataxia espinocerebelosa con anomalía oculomotora Ataxie spinocérébelleuse avec anomalie oculomotrice Ataxie, spinozerebelläre, mit okulomotorischer Anomalie Spinocerebellar ataxia with oculomotor anomaly hrdo:pat_id_13711 98694 group of phenomes Degeneración espinocerebelosa y paraparesia espástica con anomalía oculomotora Degenerazione spinocerebellare e paraparesi spastica con anomalia oculomotoria Degenerescência espinocerebelosa e paraparesia espástica com anomalia oculomotora Dégénérescence spinocérébelleuse et paraparésie spastique avec anomalie oculomotrice Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly Spinozerebelläre Degeneration und spastische Paraparese mit okulomotorischer Anomalie hrdo:pat_id_13712 98695 group of phenomes Doença ocular associada a mitocondriopatia Maladie mitochondriale avec atteinte ophtalmologique Mitochondrial disease with eye involvement Mitochondriopathie mit assoziierter Augenkrankheit Mitocondriopatia con malattia oculare Mitocondriopatía con enfermedad ocular hrdo:pat_id_13713 98696 group of phenomes Genodermatose com doença ocular Genodermatose mit Augenbeteiligung Genodermatosi con segni oculari Genodermatosis con afectaciones oculares Genodermatosis with ocular features Génodermatose avec atteintes oculaires hrdo:pat_id_13714 98697 group of phenomes Disturbo genetico della cheratinizzazione associato a segni oculari Doença da queratinização associada a doença ocular genética Genetic keratinisation disorder associated with ocular features Keratinisierungsstörung mit assoziierter Augenbeteiligung, genetisch bedingt Trastorno genético de la queratinización asociado con afectaciones oculares Trouble de la kératinisation avec atteintes oculaires hrdo:pat_id_13715 98698 group of phenomes Ichthyose mit assoziierter Augenbeteiligung Ichthyosis associated with ocular features Ichtyose avec atteintes oculaires Ictiose associada a doença ocular Ictiosis con afectaciones oculares Ittiosi associata a segni oculari hrdo:pat_id_13716 98699 group of phenomes Ichthyose, syndromale, mit assoziierter Augenbeteiligung Ichtyose syndromique avec atteintes oculaires Ictiose associada a doença ocular, sindrómica Ictiosis sindrómica con afectaciones oculares Ittiosi sindromica associata a segni oculari Syndromic ichthyosis associated with ocular features hrdo:pat_id_13717 98700 group of phenomes Anomalie de la pigmentation cutanée avec atteinte ophtalmologique Disturbo della pigmentazione associato a malattia oculare Doença ocular associada a alteração da pigmentação Pigmentation disorder with eye involvement Pigmentierungsstörung mit assoziierter Augenbeteiligung Trastorno de la pigmentación con enfermedad ocular hrdo:pat_id_13718 98701 group of phenomes Doença ocular associada a facomatose Facomatosi associata a malattia oculare Facomatosis con enfermedad ocular Phacomatose avec atteinte ophtalmologique Phakomatose mit Augenbeteiligung Phakomatosis with eye involvement hrdo:pat_id_13719 98702 group of phenomes Bindegewebskrankheit mit Augenbeteiligung Connective tissue disease with eye involvement Doença do tecido conjuntivo com envolvimento ocular Enfermedad del tejido conectivo con enfermedad ocular Maladie du tissu conjonctif avec atteinte ophtalmologique Malattia del tessuto connettivo, associata a malattia oculare hrdo:pat_id_1372 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 188201 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=ankylosed+thumb+mental+retardation 1078 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Piussan-Lenaerts-Mathieu syndrome Piussan-Lenaerts-Mathieu-Syndrom Sindrome di Piussan-Lenaerts-Mathieu Syndrome de Piussan-Lenaerts-Mathieu Anchilosi dei pollici - brachidattilia - ritardo mentale Ankylose des pouces - brachydactylie - déficit intellectuel Anquilosis de pulgares - braquidactilia - déficit intelectual Polegar rígido - braquidactilia - atraso mental Steifer Daumen - Brachydaktylie - geistige Retardierung Thumb stiffness - brachydactyly - intellectual deficit hrdo:pat_id_13720 98703 group of phenomes Disease with potential neoplastic degeneration associated with ocular features Doença ocular associada a potencial de degeneração neoplásica Enfermedad con potencial de degeneración neoplásica y afectación ocular Krankheit mit potentieller neoplastischer Degeneration und assoziierter Augenbeteiligung Maladie à potentiel néoplasique avec atteintes oculaires Malattia con possibile degenerazione neoplastica associata a segni oculari hrdo:pat_id_13721 98704 group of phenomes Doença ocular associada a síndrome unha-rótula Onico-patelar, síndrome con enfermedad ocular Onycho-patellar syndrome with eye involvement Onycho-patellares Syndrom mit assoziierter Augenbeteiligung Sindrome onico-patellare associata a malattia oculare Syndrome onycho-patellaire avec atteinte ophtalmologique hrdo:pat_id_13723 neant E70.3 98706 group of phenomes Albinisme oculo-cutané ou oculaire Albinismo oculare o oculocutaneo Albinismo oculocutáneo u ocular Albinismo oculocutâneo ou ocular Albinismus, okulokutaner und okulärer Oculocutaneous or ocular albinism hrdo:pat_id_13725 98708 group of phenomes Difetto della pigmentazione con coinvolgimento oculare, escluso l'albinismo Doença da pigmentação ocular, genética, outra Pigmentation disorder with eye involvement, excluding albinism Pigmentierungsstörung mit Augenbeteiligung (exklusive Albinismus) Trastorno de la pigmentación con afectación ocular, excluyendo el albinismo Trouble de la pigmentation impliquant l'oeil, à l'exception de l'albinisme hrdo:pat_id_13726 98709 group of phenomes Ectodermal malformation syndrome associated with ocular features Ectodermie dysplasique avec atteintes oculaires Ektodermales Fehlbildungssyndrom mit assoziierter Augenbeteiligung Sindrome malformativa ectodermica associata a segni oculari Síndrome de malformación ectodérmica con afectaciones oculares Síndrome de malformação ectodérmica com doença ocular hrdo:pat_id_13727 98710 group of phenomes Doença metabólica com doença ocular Enfermedad metabólica con afectaciones oculares Maladie métabolique avec atteintes oculaires Malattia metabolica associata a segni oculari Metabolic disease associated with ocular features Stoffwechselkrankheit mit assoziierter Augenbeteiligung hrdo:pat_id_13728 98711 group of phenomes Doença metabólica com opacidade da córnea Enfermedad metabólica con opacidad córnea Maladie métabolique avec opacité cornéenne Malattia metabolica associata a opacità corneale Metabolic disease with corneal opacity Stoffwechselkrankheit mit Hornhauttrübung hrdo:pat_id_13729 98712 group of phenomes Doença metabólica com cataratas Enfermedad metabólica con catarata Maladie métabolique avec cataracte Malattia metabolica associata a cataratta Metabolic disease with cataract Stoffwechselkrankheit mit Katarakt hrdo:pat_id_13730 98713 group of phenomes Doença metabólica com retinite pigmentar Enfermedad metabólica con retinosis pigmentaria Maladie métabolique avec rétinopathie pigmentaire Malattia metabolica associata a retinite pigmentosa Metabolic disease with pigmentary retinitis Stoffwechselkrankheit mit Retinitis pigmentosa hrdo:pat_id_13731 98714 group of phenomes Doença metabólica com mancha macular vermelho-cereja Enfermedad metabólica con manchas rojo cereza maculares Maladie métabolique avec tâche maculaire rouge cerise Malattia metabolica associata a edema maculare ''rosso ciliegia'' Metabolic disease with macular cherry-red spot Stoffwechselkrankheit mit kirschrotem Fleck der Makula hrdo:pat_id_13732 D014605 10046851 98715 128473001 C0042164 group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Uveite Uveitis Uveitis Uveitis Uveíte Uvéite hrdo:pat_id_13733 neant 98716 group of phenomes Anomalia de posição do coração Anomalia della posizione cardiaca Anomalie de position du cœur Anomalía de la posición del corazón Heart position anomaly Herzposition, anomale hrdo:pat_id_13734 98717 group of phenomes Transposición de los grandes vasos - Anomalía conotruncal cardíaca Transposition der großen Gefäße - konotrunkale Herzanomalie Transposition des gros vaisseaux et anomalie conotroncale du coeur Transposition of the great arteries and conotruncal cardiac anomaly Transposição das grandes artérias - anomalia cardíaca conotruncal Trasposizione dei grandi vasi - anomalia cardiaca troncoconale hrdo:pat_id_13735 98718 group of phenomes Aortenfehlbildung Aortic malformation Malformación aórtica Malformation aortique Malformazione aortica Malformação aórtica hrdo:pat_id_13736 98719 group of phenomes Malformación arterial pulmonar Malformation de l'artère pulmonaire Malformazione delle arterie polmonari Malformação da artéria pulmonar Pulmonalarterien, Fehlbildung der Pulmonary artery malformation hrdo:pat_id_13737 neant Q23 98720 group of phenomes Anomalia de válvula atrioventricular Anomalia della valvola atrioventricolare Anomalía de la válvula atrioventricular Atrioventricular valve anomaly Atrioventrikulären Klappe, Anomalie der Malformation des valvules atrioventriculaires hrdo:pat_id_13738 neant Q22.4 Q22.5 Q22.8 Q22.9 98721 group of phenomes Congenital tricuspid malformation Malformación de la tricúspide, congénita Malformation tricuspide congénitale Malformazione congenita della tricuspide Malformação tricúspide, congénita Trikuspidalklappenfehlbildung, kongenitale hrdo:pat_id_13739 neant Q21.2 98722 group of phenomes Anomalia del canale atrioventricolare Anomalie du canal atrioventriculaire Anomalía del canal atrioventricular Atrioventricular canal defect Atrioventrikulärer Kanal, Anomalie des Defeito do canal auriculoventricular hrdo:pat_id_13740 10050053 10064962 neant Q22.6 98723 268180007 39589002 C0265856 C0344963 group of phenomes Hypoplastic right heart syndrome Hypoplastische Rechtsherzsyndrom Sindrome del cuore destro ipoplasico Syndrome du cœur droit hypoplasique Síndrome del corazón derecho hipoplásico Síndrome do coração direito hipoplásico hrdo:pat_id_13741 10061080 neant Q25 98724 C0948632 group of phenomes Anomalia congenita dell'aorta, dell'arco aortico o delle arterie polmonari Anomalie congénitale de l'aorte, de la crosse aortique ou de l'artère pulmonaire Anomalía congénita de la aorta, del arco aórtico o de la arteria pulmonar Arterienanomalie, kongenitale (Aorta, Aortenbogen, Pulmonalarterien) Congenital aorta, aortic arch or pulmonary arteries anomaly Anomalia congenita dei grandi vasi Anomalia dos grandes vasos (aorta, arco aórtico, artérias pulmonares), congénita Anomalie congénitale des gros vaisseaux Anomalía congénita de grandes vasos Congenital great vessels anomaly Kongenitale Anomalie der großen Gefäße hrdo:pat_id_13742 neant Q25.4 98725 group of phenomes Anomalia da aorta ascendente Anomalia dell'aorta ascendente Anomalie de l'aorte ascendante Aorta ascendens, Anomalie der Aorta ascendente, anomalía de la Ascending aorta anomaly hrdo:pat_id_13743 98726 group of phenomes Anomalia da artéria pulmonar/ramos da artéria pulmonar Anomalia dell'arteria polmonare/ramo polmonare Anomalie de l'artère pulmonaire ou des branches pulmonaires Arteria pulmonar - anomalía de la rama pulmonar Pulmonalarterie/Pulmonalishauptstamm, Anomalie der Pulmonary artery/pulmonary branch anomaly hrdo:pat_id_13744 neant Q21.1 98727 group of phenomes Atrial defect and interauricular communication Communication interauriculaire ou anomalie auriculaire Defecto atrial y comunicación interauricular Defeito auricular e comunicação interauricular Difetto atriale e comunicazione interauricolare Vorhofdefekt und intraatriale Kommunikation hrdo:pat_id_13746 neant Q26 98729 group of phenomes Anomalia del ritorno venoso Anomalia do retorno venoso Anomalie du retour veineux Anomalía del retorno venoso Venenfehlmündung Venous return anomaly hrdo:pat_id_13747 neant Q24.8 98730 group of phenomes Atrioventricular discordance Atrioventrikuläre Diskordanz Discordance atrioventriculaire Discordancia atrioventricular Discordanza atrioventricolare Discordância auriculoventricular hrdo:pat_id_13748 D001164 10003226 98731 128617001 439470001 C0003855 group of phenomes Arteriovenous fistula Arteriovenöse Fistel Fistola atriovenosa Fistule artérioveineuse Fístula arteriovenosa Fístula arteriovenosa hrdo:pat_id_13749 98732 group of phenomes Cardiopatía- síndrome asociado, congénito Kardiopathie-assoziiertes Syndrom, kongenitales Sindrome congenita associata a cardiopatia Syndrome associated with a congenital cardiopathy Syndrome avec cardiopathie congénitale Síndrome associado a cardiopatia, congénito hrdo:pat_id_1375 1088 malformation syndrome Rommen-Mueller-Sybert syndrome Rommen-Mueller-Sybert-Syndrom Sindrome di Rommen-Mueller-Sybert Syndrome de Rommen-Mueller-Sybert Síndrome de Rommen-Mueller-Sybert Anomalie craniofacciali multiple - cardiopatia - ritardo della crescita Anomalies craniofaciales multiples - cardiopathie - retard de croissance Anomalías craneofaciales múltiples - cardiopatía - retraso de crecimiento Baixa estatura - cardiopatia - anomalias crânio-faciais Kleinwuchs - Herzfehler - kraniofaziale Anomalien Short stature - heart defect - craniofacial anomalies hrdo:pat_id_13750 98733 group of phenomes Noonan syndrome and Noonan-related syndrome Noonan-Syndrom und Noonan-ähnliches Syndrom Sindrome di Noonan e Noonan-simile Syndrome de Noonan et syndrome associé Síndrome Noonan e síndrome Noonan-like Síndrome de Noonan y síndromes tipo Noonan hrdo:pat_id_13751 98734 group of phenomes Cardioesquelético, síndrome Cardioskeletal syndrome Kardioskeletales Syndrom Sindrome cardioscheletrica Syndrome cardiosquelettique Síndrome Cardioesquelético hrdo:pat_id_13753 98736 group of phenomes Canalopathie neurologique génétique Canalopatia neurologica genetica Canalopatia neurológica, genética Canalopatía, neurológica, genética Genetic neurological channelopathy Ionenkanalkrankheit, neurologische, genetisch bedingte hrdo:pat_id_13754 98737 group of phenomes Canalopathie neurologique musculaire génétique Canalopatia muscolare genetica Canalopatia muscular, genética Canalopatía, muscular, genética Genetic neurological muscular channelopathy Ionenkanalkrankheit, muskuläre, genetisch bedingte hrdo:pat_id_13755 98738 group of phenomes Canalopathie neurologique génétique associée au canal sodique musculaire Canalopatia neurologica genetica da difetto genetico del canale del sodio Canalopatia neurológica muscular, por anomalia genética do canal de sódio Canalopatía, neurológica, muscular, debido a un defecto genético de los canales de sodio Ionenkanalkrankheit, muskuläre neurologische, bei genetisch bedingtem Natriumkanaldefekt Neurological muscular channelopathy due to a genetic sodium channel defect hrdo:pat_id_13756 98739 group of phenomes Canalopathie neurologique génétique associée au canal chlore musculaire Canalopatia neurologica genetica da difetto genetico del canale del cloruro Canalopatia neurológica muscular, por anomalia genética do canal de cloreto Canalopatía, neurológica, muscular, debido a un defecto genético del canal de cloruro Ionenkanalkrankheit, muskuläre neurologische, bei genetisch bedingtem Chloridkanaldefekt Neurological muscular channelopathy due to a genetic chloride channel defect hrdo:pat_id_13757 98740 group of phenomes Canalopathie neurologique génétique associée au canal calcique musculaire Canalopatia neurologica genetica da difetto genetico del canale del calcio Canalopatia neurológica muscular, por anomalia genética do canal de cálcio Canalopatía, neurológica, muscular, debido a un defecto genético de los canales de calcio Ionenkanalkrankheit, muskuläre neurologische, bei genetisch bedingtem Kalziumkanaldefekt Neurological muscular channelopathy due to a genetic calcium channel defect hrdo:pat_id_13758 98741 group of phenomes Canalopathie neurologique génétique associée au canal potassique musculaire Canalopatia neurologica genetica da difetto genetico del canale del potassio Canalopatia neurológica muscular, por anomalia genética do canal de potássio Canalopatía, neurológica, muscular, debido a un defecto genético de los canales de potasio Ionenkanalkrankheit, muskuläre neurologische, bei genetisch bedingtem Kaliumkanaldefekt Neurological muscular channelopathy due to a genetic potassium channel defect hrdo:pat_id_13759 98742 group of phenomes Canalopathie neurologique génétique associée au recepteur musculaire de la ryanodine Canalopatia neurologica genetica da difetto genetico del recettore rianodinico Canalopatia neurológica muscular, por anomalia genética do canal de rianodina Canalopatía, neurológica, muscular, debido a un defecto genético del receptor de rianodina Ionenkanalkrankheit, muskuläre neurologische, bei genetisch bedingtem Ryanodin-Rezeptordefekt Neurological muscular channelopathy due to a genetic ryanodine receptor defect hrdo:pat_id_13760 98743 group of phenomes Canalopathie neurologique génétique du système nerveux central Canalopatia genetica del sistema nervoso centrale Canalopatia neurológica do sistema nervoso central, genética Canalopatía del sistema nervioso central, genética Genetic neurological channelopathy of the central nervous system Ionenkanalkrankheit des ZNS, genetisch bedingte hrdo:pat_id_13761 98744 group of phenomes Canalopathie neurologique génétique associée au canal sodique du système nerveux central Canalopatia neurologica del sistema nervoso centrale da difetto genetico del canale del sodio Canalopatia neurológica do sistema nervoso central, por anomalia genética dos canais de sódio Canalopatía, neurológica, del sistema nervioso central, debido a un defecto genético de los canales de sodio Ionenkanalkrankheit des ZNS, bei genetisch bedingtem Natriumkanaldefekt Neurological channelopathy of the central nervous system due to a genetic sodium channel defect hrdo:pat_id_13762 98745 group of phenomes Canalopathie neurologique génétique associée au canal calcique du système nerveux central Canalopatia neurologica del sistema nervoso centrale da difetto genetico del canale del calcio Canalopatia neurológica do sistema nervoso central, por anomalia genética dos canais de cálcio Canalopatía, neurológica, del sistema nervioso central, debido a un defecto genético de los canales de calcio Ionenkanalkrankheit des ZNS, bei genetisch bedingtem Kalziumkanaldefekt Neurological channelopathy of the central nervous system due to a genetic calcium channel defect hrdo:pat_id_13763 98746 group of phenomes Canalopathie neurologique génétique associée au canal potassique du système nerveux central Canalopatia neurologica del sistema nervoso centrale da difetto genetico del canale del potassio Canalopatia neurológica do sistema nervoso central, por anomalia genética dos canais de potássio Canalopatía, neurológica, del sistema nervioso central, debido a un defecto genético de los canales de potasio Ionenkanalkrankheit des ZNS, bei genetisch bedingtem Kaliumkanaldefekt Neurological channelopathy of the central nervous system due to a genetic potassium channel defect hrdo:pat_id_13764 98747 group of phenomes Canalopathie neurologique génétique associée au recepteur de la glycine du système nerveux central Canalopatia neurologica del sistema nervoso centrale da difetto genetico del recettore della glicina Canalopatia neurológica do sistema nervoso central, por anomalia genética dos canais de glicina Canalopatía, neurológica, del sistema nervioso central, debido a un defecto genético del receptor de glicina Ionenkanalkrankheit des ZNS, bei genetisch bedingtem Glycin-Rezeptordefekt Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect hrdo:pat_id_13765 98748 group of phenomes Canalopathie neurologique génétique associée au recepteur de l'acétylcholine du système nerveux central Canalopatia neurologica del sistema nervoso centrale da difetto genetico del recettore acetilcolinico Canalopatia neurológica do sistema nervoso central, por anomalia genética dos recetores de acetilcolina Canalopatía, neurológica, del sistema nervioso central, debido a un defecto genético del receptor de acetilcolina Ionenkanalkrankheit des ZNS, bei genetisch bedingtem Acetylcholin-Rezeptordefekt Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect hrdo:pat_id_13766 98749 group of phenomes Canalopathie neurologique génétique associée au recepteur au GABA du système nerveux central Canalopatia neurologica del sistema nervoso centrale da difetto genetico del recettore del GABA Canalopatia neurológica do sistema nervoso central, por anomalia genética dos recetores GABA Canalopatía, neurológica, del sistema nervioso central, debido a un defecto genético del receptor GABA Ionenkanalkrankheit des ZNS, bei genetisch bedingtem GABA-Rezeptordefekt Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect hrdo:pat_id_13767 98750 group of phenomes Autoimmune neurological channelopathy Canalopathie neurologique auto-immune Canalopatia neurologica autoimmune Canalopatia neurológica autoimune Canalopatía, neurológica, autoinmune Ionenkanalkrankheit, autoimmune neurologische hrdo:pat_id_13768 98751 group of phenomes Autoimmune neurological channelopathy due to a p/q-type voltage gated calcium channel defect Canalopathie neurologique auto-immune associée au canal calcique volyage dépendant de type p/q Canalopatia neurologica autoimmune da difetto del canale del calcio voltaggio-dipendente, tipo p/q Canalopatia neurológica autoimune por anomalia dos canais de cálcio dependentes de voltagem tipo p/q Canalopatía, neurológica, autoinmune, debido a un defecto en los canales de calcio de voltaje tipo p/q Ionenkanalkrankheit, autoimmune neurologische, bei Defekt des p/q-Typ spannungsabhängigen Kalziumkanals hrdo:pat_id_13769 98752 group of phenomes Autoimmune neurological channelopathy due to a potassium channel defect Canalopathie neurologique auto-immune associée au canal potassique Canalopatia neurologica autoimmune da difetto del canale del potassio Canalopatia neurológica autoimune por anomalia do canal de potássio Canalopatía, neurológica, autoinmune, debido a un defecto en los canales de potasio Ionenkanalkrankheit, autoimmune neurologische, bei Kaliumkanaldefekt hrdo:pat_id_13770 98753 group of phenomes Autoimmune neurological channelopathy due to a acetylcholine receptor subunits defect Canalopathie neurologique auto-immune associé à un défaut de sous-unité du recepteur à l'acétylcholine Canalopatia neurologica autoimmune da difetto delle subunità del recettore acetilcolinico Canalopatia neurológica autoimune por anomalia nas subunidades dos recetores da acetilcolina Canalopatía, neurológica, autoinmune, debido al defecto de las subunidades del receptor de la acetilcolina Ionenkanalkrankheit, autoimmune neurologische, bei Defekt einer Untereinheit des Acetylcholin-Rezeptors hrdo:pat_id_13771 neant Q87.1 98754 etiological subtype UPD(15)mat UPD(15)mat UPD(15)mat UPD(15)mat UPD(15)mat Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Prader-Willi-Syndrom durch maternale uniparentale Disomie 15 Sindrome di Prader-Willi da disomia uniparentale materna del cromosoma 15 Syndrome de Prader-Willi dû à une disomie uniparentale maternelle du chromosome 15 Síndrome de Prader-Willi debido a una disomía uniparental materna del cromosoma 15 Síndrome de Prader-Willi por dissomia uniparental do cromossoma 15, de origem materna hrdo:pat_id_13772 Variabel Variabile Variable Variable Variable Variable Variável 164400 neant G11 98755 C0752120 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 SCA1 SCA1 SCA1 SCA1 SCA1 SCA1 Atassia spinocerebellare, tipo 1 Ataxia espinocerebelosa tipo 1 Ataxia espinocerebelosa tipo 1 Ataxie spinocérébelleuse 1 Ataxie, spinozerebelläre, Typ 1 Spinocerebellar ataxia type 1 hrdo:pat_id_13773 Variabel Variabile Variable Variable Variable Variable Variável 183090 neant G11 98756 C0752121 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 SCA2 SCA2 SCA2 SCA2 SCA2 SCA2 Atassia spinocerebellare, tipo 2 Ataxia espinocerebelosa tipo 2 Ataxia espinocerebelosa, tipo 2 Ataxie spinocérébelleuse type 2 Ataxie, spinozerebelläre, Typ 2 Spinocerebellar ataxia type 2 hrdo:pat_id_13774 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 109150 neant G11 98757 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Autosomal dominant striatonigral degeneration Azorean disease of the nervous system Azoren-Krankheit des Nervensystems Degeneración estriatonigral autosómica dominante Degeneración nigroespinodentatal con oftalmoplejía nuclear Degeneration, nigro-spino-dentale, mit nukleärer Ophthalmoplegie Degeneration, stratonigrale, autosomal-dominante Degenerazione nigro-spino-dentata con oftalmoplegia nucleare Degenerazione nigrostriatale autosomica dominante Doença de Machado-Joseph EMJ Enfermedad de Machado Enfermedad de Machado-Joseph Enfermedad de las Azores del sistema nervioso MJD MJD MJD MJD MJD Machado disease Machado-Joseph disease Machado-Joseph-Krankheit Machado-Krankheit Maladie de Machado-Joseph Malattia del sistema nervoso delle Azzorre Malattia di Machado Malattia di Machado-Joseph Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia SCA3 SCA3 SCA3 SCA3 SCA3 SCA3 Atassia spinocerebellare, tipo 3 Ataxia espinocerebelosa tipo 3 Ataxia espinocerebelosa, tipo 3 Ataxie spinocérébelleuse type 3 Ataxie, spinozerebelläre, Typ 3 Spinocerebellar ataxia type 3 hrdo:pat_id_13775 183086 neant G11 98758 C0752124 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease SCA6 SCA6 SCA6 SCA6 SCA6 SCA6 Atassia spinocerebellare, tipo 6 Ataxia espinocerebelosa tipo 6 Ataxia espinocerebelosa, tipo 6 Ataxie spinocérébelleuse type 6 Ataxie, spinozerebelläre, Typ 6 Spinocerebellar ataxia type 6 hrdo:pat_id_13776 Variabel Variabile Variable Variable Variable Variable Variável 607136 neant G11 98759 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Doença de Huntington-like 4 Enfermedad de Huntington-like 4 HDL4 HDL4 HDL4 HDL4 HDL4 Huntington disease-like 4 Maladie de Huntington-like 4 Malattia Huntington-simile 4 SCA17 SCA17 SCA17 SCA17 SCA17 SCA17 Atassia spinocerebellare, tipo 17 Ataxia espinocerebelosa tipo 17 Ataxia espinocerebelosa, tipo 17 Ataxie spinocérébelleuse type 17 Ataxie, spinozerebelläre, Typ 17 Spinocerebellar ataxia type 17 hrdo:pat_id_13777 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 608768 C537307 neant G11 98760 C1837454 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown SCA8 SCA8 SCA8 SCA8 SCA8 SCA8 Atassia spinocerebellare, tipo 8 Ataxia espinocerebelosa tipo 8 Ataxia espinocerebelosa, tipo 8 Ataxie spinocérébelleuse type 8 Ataxie, spinozerebelläre, Typ 8 Spinocerebellar ataxia type 8 hrdo:pat_id_13778 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 603516 neant G11 98761 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown SCA10 SCA10 SCA10 SCA10 SCA10 SCA10 Atassia spinocerebellare, tipo 10 Ataxia espinocerebelosa tipo 10 Ataxia espinocerebelosa, tipo 10 Ataxie spinocérébelleuse type 10 Ataxie, spinozerebelläre, Typ 10 Spinocerebellar ataxia type 10 hrdo:pat_id_13779 Variabel Variabile Variable Variable Variable Variable Variável 604326 neant G11 98762 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SCA12 SCA12 SCA12 SCA12 SCA12 SCA12 Atassia spinocerebellare, tipo 12 Ataxia espinocerebelosa tipo 12 Ataxia espinocerebelosa, tipo 12 Ataxie spinocérébelleuse type 12 Ataxie, spinozerebelläre, Typ 12 Spinocerebellar ataxia type 12 hrdo:pat_id_1378 267400 neant Q87.8 1092 malformation syndrome Anomalias renais, genitais e do ouvido médio Anomalie renali, genitali e dell'orecchio medio Anomalien der Niere, Genitalien und des Mittelohrs Anomalies rénales, génitales et de l'oreille moyenne Anomalías renales, genitales y de oído medio Renal-genital-middle ear anomalies hrdo:pat_id_13780 605361 C537196 neant G11 98763 C1854369 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SCA14 SCA14 SCA14 SCA14 SCA14 SCA14 Atassia spinocerebellare, tipo 14 Ataxia espinocerebelosa tipo 14 Ataxia espinocerebelosa, tipo 14 Ataxie spinocérébelleuse type 14 Ataxie, spinozerebelläre, Typ 14 Spinocerebellar ataxia type 14 hrdo:pat_id_13781 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 609307 C537204 neant G11 98764 C1836383 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SCA27 SCA27 SCA27 SCA27 SCA27 SCA27 Atassia spinocerebellare, tipo 27 Ataxia espinocerebelosa tipo 27 Ataxia espinocerebelosa, tipo 27 Ataxie spinocérébelleuse type 27 Ataxie, spinozerebelläre, Typ 27 Spinocerebellar ataxia type 27 hrdo:pat_id_13782 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 600223 neant G11 98765 C0752122 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown SCA4 SCA4 SCA4 SCA4 SCA4 SCA4 Atassia spinocerebellare, tipo 4 Ataxia espinocerebelosa tipo 4 Ataxia espinocerebelosa, tipo 4 Ataxie spinocérébelleuse type 4 Ataxie, spinozerebelläre, Typ 4 Spinocerebellar ataxia type 4 hrdo:pat_id_13783 600224 neant G11 98766 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease SCA5 SCA5 SCA5 SCA5 SCA5 SCA5 Atassia spinocerebellare, tipo 5 Ataxia espinocerebelosa tipo 5 Ataxia espinocerebelosa, tipo 5 Ataxie spinocérébelleuse type 5 Ataxie, spinozerebelläre, Typ 5 Spinocerebellar ataxia type 5 hrdo:pat_id_13784 604432 neant G11 98767 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease SCA11 SCA11 SCA11 SCA11 SCA11 SCA11 Atassia spinocerebellare, tipo 11 Ataxia espinocerebelosa tipo 11 Ataxia espinocerebelosa, tipo 11 Ataxie spinocérébelleuse type 11 Ataxie, spinozerebelläre, Typ 11 Spinocerebellar ataxia type 11 hrdo:pat_id_13785 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 605259 C537195 neant G11 98768 C1854488 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SCA13 SCA13 SCA13 SCA13 SCA13 SCA13 Atassia spinocerebellare, tipo 13 Ataxia espinocerebelosa tipo 13 Ataxia espinocerebelosa, tipo 13 Ataxie spinocérébelleuse type 13 Ataxie, spinozerebelläre, Typ 13 Spinocerebellar ataxia type 13 hrdo:pat_id_13786 606658 neant G11 98769 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease SCA15 SCA15 SCA15 SCA15/16 SCA15/16 SCA15/16 Atassia spinocerebellare, tipo 15 Ataxia espinocerebelosa tipo 15/16 Ataxia espinocerebelosa, tipo 15 Ataxie spinocérébelleuse type 15/16 Ataxie, spinozerebelläre, Typ 15 Spinocerebellar ataxia type 15/16 hrdo:pat_id_13787 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 606658 neant G11 98770 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SCA16 SCA16 SCA16 SCA16 SCA16 SCA16 Atassia spinocerebellare, tipo 16 Ataxia espinocerebelosa tipo 16 Ataxia espinocerebelosa, tipo 16 Ataxie spinocérébelleuse type 16 Ataxie, spinozerebelläre, Typ 16 Spinocerebellar ataxia type 16 hrdo:pat_id_13788 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 607458 C537197 neant G11 98771 C1843884 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SCA18 SCA18 SCA18 SCA18 SCA18 SCA18 Atassia spinocerebellare, tipo 18 Ataxia espinocerebelosa tipo 18 Ataxia espinocerebelosa, tipo 18 Ataxie spinocérébelleuse type 18 Ataxie, spinozerebelläre, Typ 18 Spinocerebellar ataxia type 18 hrdo:pat_id_13789 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 607346 C537198 neant G11 98772 C1846367 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SCA19 SCA19 SCA19 SCA19 SCA19/22 SCA19/22 Atassia spinocerebellare, tipo 19 Ataxia espinocerebelosa tipo 19 Ataxia espinocerebelosa, tipo 19 Ataxie spinocérébelleuse type 19/22 Ataxie, spinozerebelläre, Typ 19 Spinocerebellar ataxia type 19/22 hrdo:pat_id_13790 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 607454 C537200 neant G11 98773 C1843891 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SCA21 SCA21 SCA21 SCA21 SCA21 SCA21 Atassia spinocerebellare, tipo 21 Ataxia espinocerebelosa tipo 21 Ataxia espinocerebelosa, tipo 21 Ataxie spinocérébelleuse type 21 Ataxie, spinozerebelläre, Typ 21 Spinocerebellar ataxia type 21 hrdo:pat_id_1380 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 607214 neant 1094 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome di Teebi-Kaurah Syndrome de Teebi-Kaurah Síndrome de Teebi-Kaurah Teebi-Kaurah syndrome Teebi-Kaurah-Syndrom Anonichia - microcefalia Anoniquia - microcefalia Anoniquia - microcefalia Anonychia - microcephaly Anonychie - Mikrozephalie Anonychie - microcéphalie hrdo:pat_id_13801 600513 603204 605375 610353 615005 neant 98784 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease ADNFLE ADNFLE ADNFLE Autosomal dominant nocturnal frontal lobe epilepsy Epilepsie frontale à crises nocturnes autosomique dominante Epilessia notturna del lobo frontale, autosomica dominante Nächtliche Frontallapenepilepsie, autosomal-dominante Epilepsia nocturna de tipo frontal Epilepsia, noturna, tipo lobo frontal Epilepsie frontale à crises nocturnes Epilessia notturna del lobo frontale Frontallappen-Epilepsie, nächtliche Nocturnal frontal lobe epilepsy hrdo:pat_id_13805 194190 neant 98788 malformation syndrome Déficit intellectuel - dysmorphie - retard de croissance intra-utérin Intellectual deficit - dysmorphism - intrauterine growth retardation Intelligenzminderung - Dysmorphien - intrauterine Wachstumsretardierung Ritardo mentale - dismorfismi - ritardo della crescita intrauterina Pitt-Rogers-Danks syndrome Pitt-Rogers-Danks-Syndrom Sindrome di Pitt-Rogers-Danks Syndrome de Pitt-Rogers-Danks Síndrome de Pitt-Rogers-Danks Síndrome de Pitt-Rogers-Danks hrdo:pat_id_13808 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 141750 neant D56.0 98791 277918006 C0475813 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ATR syndrome linked to chromosome 16 ATR syndrome, deletion type ATR-16 syndrome ATR-16-Syndrom Alpha thalassemia - intellectual deficit syndrome, deletion type Alpha thalassemia - retardation syndrome Sindrome ATR-16 Sindrome alfa talassemia-ritardo Syndrome ATR associé au chromosome 16 Syndrome ATR type délétion Syndrome ATR-16 Syndrome d'alpha thalassémie - déficit intellectuel type délétion Alpha thalassemia - intellectual deficit syndrome linked to chromosome 16 Alpha-Thalassämie-Geistige Retardierung-Syndrom Sindrome alfa talassemia-deficit cognitivo Syndrome d'alpha thalassémie - déficit intellectuel associé au chromosome 16 Síndrome de alfa-talasemia - déficit intelectual Síndrome talassemia alfa-atraso mental hrdo:pat_id_13810 neant Q87.1 98793 etiological subtype Syndrome de Prader-Willi dû à une monosomie 15q11q13 d'origine paternelle Prader-Willi syndrome due to paternal 15q11q13 deletion Prader-Willi-Syndrom durch paternale Deletion 15q11.13 Sindrome di Prader-Willi da delezione paterna di 15q11q13 Syndrome de Prader-Willi dû à une délétion 15q11q13 d'origine paternelle Síndrome de Prader-Willi debido a una deleción 15q11q13 de origen paterno Síndrome de Prader-Willi por deleção 15q11.13 paterna hrdo:pat_id_13811 neant Q93.5 98794 etiological subtype Angelman syndrome due to maternal monosomy 15q11q13 Angelman-Syndrom durch maternale Monosomie 15q11q13 Sindrome di Angelman da monosomia materna di 15q11q13 Syndrome d'Angelman dû à une monosomie 15q11-13 d'origine maternelle Síndrome de Angelman debido a una monosomía 15q11q13 de origen materno Angelman syndrome due to maternal 15q11q13 deletion Angelman-Syndrom durch maternale Deletion 15q11q13 Deleção 15q11.13 materna Sindrome di Angelman da delezione materna di 15q11q13 Syndrome d'Angelman dû à une délétion 15q11q13 d'origine maternelle Síndrome de Angelman debido a una deleción 15q11q13 de origen materno hrdo:pat_id_13812 neant Q93.5 98795 etiological subtype UPD(15)pat UPD(15)pat UPD(15)pat UPD(15)pat UPD(15)pat Angelman syndrome due to paternal uniparental disomy of chromosome 15 Angelman-Syndrom durch paternale UPD 15 Dissomia uniparental de origem paterna, cromossoma 15 Sindrome di Angelman da disomia uniparentale paterna del cromosoma 15 Syndrome d'Angelman dû à une disomie uniparentale paternelle du chromosome 15 Síndrome de Angelman debido a una disomía uniparental paterna del cromosoma 15 hrdo:pat_id_13814 neant Q98.6 98797 malformation syndrome Isochromosom Yp Isochromosomie Yq Isochromosomy Yp Isocromosoma Yp Isocromosomia Yp Isocromossoma Yp hrdo:pat_id_13815 neant Q98.6 98798 malformation syndrome Isochromosom Yq Isochromosomie Yp Isochromosomy Yq Isocromosoma Yq Isocromosomia Yq Isocromossoma Yq hrdo:pat_id_13822 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 128101 neant G24.1 98805 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 DYT4 DYT4 DYT4 Hereditary whispering dysphonia Distonia idiopática de torção não-DYT1 Distonia primaria, tipo DYT4 Distonía de torsión idiopática no-DYT1 Dystonie primaire type DYT4 Dystonie, primäre, Typ DYT4 Primary dystonia, DYT4 type hrdo:pat_id_13823 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 602629 neant G24.1 98806 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 'Distonía de torsión idiopática tipo ''mixto''' DYT6 DYT6 DYT6 DYT6 Distonia idiopatica di torsione, tipo "misto" Dystonie de torsion idiopathique 'mixte' Idiopathic torsion dystonia of mixed type Torsionsdystonie, idiopathische, gemischter Typ Distonia idiopática de torção do tipo misto de início no adulto Distonia primaria, tipo DYT6 Distonía primaria tipo DYT6 Dystonie primaire type DYT6 Dystonie, primäre, Typ DYT6 Primary dystonia, DYT6 type hrdo:pat_id_13824 Variabel Variabile Variable Variable Variable Variable Variável 607671 neant G24.1 98807 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 DYT13 DYT13 DYT13 DYT13 Distonia primaria con fenotipo misto Distonia primaria di torsione a esordio prevalentemente craniocervicale o dell'arto superiore Distonia primaria segmentale craniocervicale a esordio precoce Distonía primaria con fenotipo mixto Dystonie primaire avec phénotype mixte Dystonie primaire à début cranio-cervical ou des membres supérieurs Fokale Dystonie mit kraniozervikalen Symptomen Primary dystonia with mixed phenotype Primary torsion dystonia with predominant craniocervical or upper limb onset Primäre Torsions-Dystonie mit überwiegendem Beginn im kraniozervikalen Bereich oder in den Armen Distonia de torção primária segmentar craniocervical de início precoce Distonia primaria, tipo DYT13 Distonía primaria tipo DYT13 Dystonie primaire type DYT13 Dystonie, primäre, Typ DYT13 Primary dystonia, DYT13 type hrdo:pat_id_13825 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 128230 neant G24.1 98808 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Autosomal dominant Segawa syndrome DYT5a DYT5a DYT5a DYT5a DYT5a Distonia progressiva ereditaria (HPD) con marcata fluttuazione diurna Distonía hereditaria progresiva con marcada fluctuación diurna Dystonie progressive héréditaire avec fluctuations diurnes HPD with marked diurnal fluctuation Hereditary progressive dystonia with marked diurnal fluctuation Progressive Dystonie mit tageszeitlicher Fluktuation Segawa-Syndrom, autosomal-dominantes Sindrome di Segawa, autosomica dominante Syndrome de Segawa autosomique dominant Síndrome de Segawa, autosómico dominante Autosomal dominant dopa-responsive dystonia Distonia Dopa-sensibile, autosomica dominante Distonia sensível à dopa autossómica dominante Distonía dopa-sensible autosómica dominante Dystonie dopa-sensible autosomique dominante Dystonie, Dopa-responsive, autosomal-dominante hrdo:pat_id_13826 128200 611031 neant G24.8 98809 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Choréathétose kinésigénique paroxystique Coreatetosi chinesigenica parossistica Coreoatetosis cinesigénica paroxística Discinesia chenesigenica parossistica familiare Disquinesia paroxística cinesigénica familiar Dyskinésie kinésigénique paroxystique familiale Familial PKD Familial paroxysmal kinesigenic dyskinesia PKD familiale PKD familiar PKD familiare Paroxysmal kinesigenic choreathetosis Discinesia chinesigenica parossistica Discinesia paroxística cinesigénica (PKD) Disquinesia paroxística cinesigénica Dyskinésie kinésigénique paroxystique Paroxysmal kinesigenic dyskinesia Paroxysmale kinesiogene Dyskinesie (PKD) hrdo:pat_id_13827 118800 611147 C537181 10065657 10065658 neant G24.8 98810 49949003 C1869117 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Discinesia parossistica non chinesigenica (PNKD) Discinesia paroxística não-cinesigénica (PNKD) Disquinesia paroxística no cinesigénica Dyskinésie non kinésigénique paroxystique Paroxysmal non-kinesigenic dyskinesia Paroxysmale nicht-kinesiogene Dyskinesie (PNKD) hrdo:pat_id_13828 612126 neant G24.8 98811 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease DYT18 DYT18 DYT18 DYT18 DYT18 Distonia 18 Distonía 18 Dystonia 18 Dystonie 18 Dystonie 18 PED PED PED PED PED Discinesia parossistica indotta da sforzo Discinesia paroxística induzida por esforço (PED) Disquinesia paroxística inducida por esfuerzo Dyskinésie paroxystique induite par l'effort Paroxysmal exertion-induced dyskinesia Paroxysmale anstrengungsinduzierte Dyskinesie hrdo:pat_id_13829 neant G24.8 98812 disease Discinesia ipnogenica parossistica (PHD) Discinesia paroxística hipnogénica (PHD) Disquinesia paroxística hipnogénica (PHD) Dyskinésie paroxystique induite par le sommeil Paroxysmal hypnogenic dyskinesia Paroxysmale hypnogene Dyskinesie (PHD) hrdo:pat_id_13830 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300291 612132 neant D82.8 98813 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Anhidrotic ectodermal dysplasia with immunodeficiency Displasia ectodérmica anhidrótica con inmunodeficiencia EDA-ID EDA-ID EDA-ID EDA-ID Ectodermie dysplasique anhidrotique avec immunodéficience HED-ID HED-ID HED-ID HED-ID Displasia ectodermica ipoidrotica con immunodeficienza Displasia ectodérmica hipohidrótica com imunodeficiência Displasia ectodérmica hipohidrótica con inmunodeficiencia Ectodermie dysplasique hypohidrotique avec immunodéficience Hyperhidrotische ektodermale Dysplasie mit Immundefekt Hypohidrotic ectodermal dysplasia with immunodeficiency hrdo:pat_id_13832 neant G40.0 98815 clinical subtype Early onset benign childhood occipital epilepsy Epilepsia occipital benigna de la infancia temprana Epilepsie occipitale bénigne à début précoce Epilessia occipitale infantile benigna a esordio precoce Früh beginnende benigne okzipitale Epilepsie des Kindesalters Panayiotopoulos syndrome Panayiotopoulos-Syndrom Sindrome di Panayiotopoulos Syndrome de Panayiotopoulos Síndrome de Panayiotopoulos Benign childhood occipital epilepsy, Panayiotopoulos type Benigne okzipitale Epilepsie des Kindesalters Typ Panayiotopoulos Epilepsia occipital benigna de la infancia de tipo Panayiotopoulos Epilepsia ocipital benigna, infantil, tipo Panayiotopoulos Epilepsie occipitale bénigne type Panayiotopoulos Epilessia occipitale infantile benigna, tipo Panayiotopoulos hrdo:pat_id_13833 neant G40.0 98816 clinical subtype Epilepsia occipital benigna de la infancia tardía Epilepsie occipitale bénigne à début tardif Epilessia occipitale infantile benigna a esordio tardivo Late onset benign childhood occipital epilepsy Spät beginnende benigne okzipitale Epilepsie des Kindesalters Benign childhood occipital epilepsy, Gastaut type Benigne okzipitale Epilepsie des Kindesalters Typ Gastaut Epilepsia occipital benigna de la infancia de tipo Gastaut Epilepsia ocipital benigna, infantil, tipo Gastaut Epilepsie occipitale bénigne type Gastaut Epilessia occipitale infantile benigna, tipo Gastaut hrdo:pat_id_13835 245570 D018887 10052075 neant 98818 230438007 C0282512 disease Landau-Kleffner syndrome Landau-Kleffner-Komplex Sindrome di Landau-Kleffner (SLK) Syndrome de Landau-Kleffner Síndrome de Landau-Kleffner (LKS) Síndrome de Landau-Kleffner (LKS) hrdo:pat_id_13836 608096 611631 C536956 neant 98819 C1842564 disease Epilepsia temporal familiar Epilepsia temporal, familiar Epilepsie temporale familiale Epilepsie, familiäre temporale Epilessia temporale familiare Familial temporal epilepsy hrdo:pat_id_13837 604364 neant 98820 disease Epilepsia parcial familiar com focos variáveis Epilepsia parcial familiar con focos variables Epilepsie partielle à foyer variable familiale Epilepsie, familiäre partielle, mit variablen Fokus Epilessia parziale familiare a focolai variabili Familial partial epilepsy with variable focus hrdo:pat_id_13840 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D015477 10009018 neant C93.1 98823 127225006 128831004 C0023480 disease CMML Syndrome myélomonocytaire chronique Chronic myelomonocytic leukemia Leucemia mielomonocitica cronica Leucemia mielomonocítica crónica Leucemia mielomonocítica, crónica Leucémie myélomonocytaire chronique Leukämie, chronische myelomonozytäre hrdo:pat_id_13841 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D054438 neant C92.2 98824 128826001 188736006 277589003 C0349640 disease Leucémie myéloïde subaigüe Subacute myeloid leukemia Atypical chronic myeloid leukemia Leucemia mieloide cronica atipica Leucemia mieloide crónica atípica Leucemia, atípica, mielóide, crónica Leucémie myéloïde chronique atypique Leukämie, chronische myeloische, atypische hrdo:pat_id_13842 98825 disease Myeloproliferativen/Myelodysplastischen Krankheiten, nicht-klassifizierbare Mischformen Myélodysplasique/myéloproliférative, syndrome, mixte, non-classifié Sindrome mista mieloproliferativa/mielodisplastica non classificata Unclassified mixed myelodysplastic/myeloproliferatic syndrome Doença mielodisplásica/mieloproliferativa, não classificada Enfermedad mielodisplásica/mieloproliferativa inclasificable Maladie myélodysplasique/myéloproliférative non-classifiée Malattia mieloproliferativa/mielodisplastica non classificabile Myeloproliferative/Myelodysplastische Krankheit, nicht-klassifizierbare Unclassified myelodysplastic/myeloproliferative disease hrdo:pat_id_13843 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D000753 10038269 neant D46.7 98826 109996008 128845005 C0002893 disease Anemia refractaria Anemia refrattaria Anemia refratária Anämie, refraktäre Anémie réfractaire Refractory anemia hrdo:pat_id_13844 neant D46.7 98827 disease Myelodysplastisches Syndrom, nicht-klassifizierbares Sindrome mielodisplastica, sindrome non classificata Syndrome myélodysplasique non-classifié Síndrome mielodisplásico inclasificable Síndrome mielodisplásico, não classificado Unclassified myelodysplastic syndrome hrdo:pat_id_13846 neant C92.7 98829 disease 'Leucemia mielóide, aguda com anomalia inv(16)(p13q22) ou t(16;16)(p13;q22) dos eosinófilos da medula óssea' Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) Akute myeloische Leukämie mit anormalen Eosinophilen und inv(16)(p13q22) oder t(16;16)(p13;q11) Leucemia acuta mieloide con eosinofili midollari anomali associata a inv(16)(p13q22) o t(16;16)(p13;q22) Leucemia mieloide aguda con eosinófilos anómalos en la médula ósea con inv(16)(p13q22) o t(16;16)(p13;q22) Leucémie aiguë myéloïde avec éosinophiles médullaires anormaux associée à inv(16)(p13q22) ou t(16;16)(p13;q22) hrdo:pat_id_13848 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant C92.6 98831 128829008 C1292775 disease Acute myeloid leukemia with 11q23 abnormalities Leucemia acuta mieloide associata a anomalie in 11q23 Leucemia mieloide aguda con anomalías 11q23 Leucemia mielóide, aguda, com anomalias 11q23 Leucémie aiguë myéloïde associée à des anomalies en 11q23 Leukämie, akute myeloische, mit 11q23-Abnormitäten hrdo:pat_id_13849 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant C92.0 98832 disease Leucemia mieloblastica acuta leggermente differenziata Leucemia mieloblástica aguda mínimamente diferenciada Leucemia mieloblástica, aguda, minimamente diferenciada Leucémie myéloblastique aiguë type peu différenciée Leukämie, akute myeloische, mit minimaler Ausreifung Minimally differentiated acute myeloblastic leukemia hrdo:pat_id_1385 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Anophthalmi*+OR+anophthalmos+OR+microphthalmia%29+AND+%28Hypothalamic+Diseases%29 Q87.8 1102 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 14q22 microdeletion syndrome Al Frayh-Facharzt-Haque syndrome Al Frayh-Facharzt-Haque, síndrome de Al Frayh-Facharzt-Haque-Syndrom Microdélétion 14q22 Mon,osomie 14q22 Monosomia 14q22 Monosomy 14q22 Monosomía 14q22 Sindrome da microdelezione 14q22 Sindrome di Al Frayh-Facharzt-Haque Syndrome d'Al Frayh-Facharzt-Haque Síndrome de Al Frayh-Facharzt-Haque Síndrome de Al Frayh-Facharzt-Haque Síndrome de Al frayh facharzt haque Síndrome de microdeleción 14q22 Anoftalmia - insufficienza ipotalamo-ipofisaria Anoftalmia - insuficiencia hipotálamo-pituitaria Anoftalmia - insuficiência hipotalamo-hipofisária Anophtalmie - insuffisance hypothalamo-hypophysaire Anophthalmia - hypothalamo-pituitary insufficiency Anophthalmie mit Hypothalamus-Hypophysen-Insuffizienz hrdo:pat_id_13850 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant C92.0 98833 disease 'Leukämie, akute myeloische, mit Translokation t(8;21)(q22;q22) '' Acute myeloblastic leukemia type 1 Leucemia mieloblastica acuta, tipo 1 Leucemia mieloblástica aguda de tipo 1 Leucemia mieloide acuta associata alla traslocazione t (8;21) (q22;q22) Leucémie myéloblastique aiguë type 1 Leukämie, akute myeloische, Typ 1 Acute myeloblastic leukemia without maturation Leucemia mieloblastica acuta senza maturazione Leucemia mieloblástica aguda sin maduración Leucemia mieloblástica, aguda, sem maturação Leucémie myéloblastique aiguë sans maturation Leukämie, akute myeloische, ohne Ausreifung hrdo:pat_id_13851 Variabel Variabile Variable Variable Variable Variable Variável neant C92.0 98834 disease Acute myeloblastic leukemia type 2 Leucemia mieloblastica acuta, tipo 2 Leucemia mieloblástica aguda de tipo 2 Leucémie myéloblastique aiguë type 2 Leukämie, akute myeloische, Typ 2 Acute myeloblastic leukemia with maturation Leucemia mieloblastica acuta con maturazione Leucemia mieloblástica aguda con maduración Leucemia mieloblástica, aguda, com maturação Leucémie myéloblastique aiguë avec maturation Leukämie, akute myeloische, mit Ausreifung hrdo:pat_id_13852 10045516 neant C95.0 98835 C0856823 disease Acute undifferentiated leukemia Leucemia acuta indifferenziata Leucemia aguda no diferenciada Leucemia, indiferenciada, aguda Leucémie aigüe non-diférentiée Leukämie, akute undifferenzierte hrdo:pat_id_13853 neant C95.0 98836 397346005 C0349680 disease Bilineal acute leukemia Leucemia aguda bilineal Leucemia bilineare acuta Leucemia, bilineal, aguda Leucémie aigüe à bi-lignée Leukämie, akute bilineare hrdo:pat_id_13854 D015456 10067399 neant C95.0 98837 128818009 278453007 C0023464 disease Acute biphenotypic leukemia Leucemia acuta bifenotipica Leucemia aguda bifenotípica Leucemia, bifenotípica, aguda Leucémie aiguë biphénotypique Leukämie, akute biphänotypische hrdo:pat_id_13855 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 10036710 neant C83.3 98838 128801005 444910004 C0855152 C1292754 disease Großzelliges Lymphom des Mediastinums Large cell lymphoma of the mediastinum Linfoma B primitivo del mediastino a cellule chiare Linfoma de células grandes del mediastino Linfoma del mediastino a grandi cellule Linfoma diffuso del mediastino a grandi cellule con sclerosi Linfoma difuso de células grandes del mediastino Linfoma primario mediastinal de células claras de tipo células B Lymphome B à grandes cellules claires du médiastin Lymphome diffus à grandes cellules du médiastin Med-DLBCL Med-DLBCL Med-DLBCL Med-DLBCL Mediastinal diffuse large-cell lymphoma with sclerosis PMBCL Primary mediastinal clear cell lymphoma of B-cell type B-Zell-Lymphom, großzelliges, primär mediastinales Linfoma de grandes células B do mediastino (tímico) Linfoma mediastínico primario de células B grandes Linfoma primitivo del mediastino a grandi cellule B Lymphome B médiastinal primitif à grandes cellules Primary mediastinal large B-cell lymphoma hrdo:pat_id_13856 10069643 neant C83.3 98839 399648005 disease Angioendoteliomatosi maligna Angioendoteliomatosi proliferante sistemica Angioendoteliomatosis maligna Angioendoteliomatosis sistémica proliferante Angioendotheliomatose, maligne Angioendotheliomatosis proliferans systematisata Angioendotheliomatosis proliferans systemisata Angioendothéliomatose maligne Angiotropic large cell lymphoma Intravascular lymphomatosis Linfoma angiotropico a grandi cellule Linfoma angiotrópico de células grandes Linfomatosi intravascolare Linfomatosis intravascular Lymphom, intravaskuläres Lymphomatose intravasculaire Lymphome angiotrope à grandes cellules Malignant angioendotheliomatosis B-Zell-Lymphom, intravaskuläres großzelliges Intravascular large B-cell lymphoma Linfoma intravascolare a grandi cellule B Linfoma intravascular de células B grandes Linfoma, intravascular, de grandes células B Lymphome B à grandes cellules intravasculaires hrdo:pat_id_13858 Variabel Variabile Variable Variable Variable Variable Variável D017728 neant C83.3 98841 277637000 disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 ALCL ALCL ALCL ALCL ALCL Linfoma difuso de celulas T grandes Anaplastic large cell lymphoma Linfoma anaplastico a grandi cellule Linfoma anaplásico de células grandes Linfoma anaplásico de células grandes Lymphom, anaplastisch großzelliges Lymphome anaplasique à grandes cellules hrdo:pat_id_13859 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D017731 10056670 neant C86.6 98842 31047003 397353001 C0206182 disease Lymphomatoid papulosis Papulose linfomatóide Papulose lymphomatoïde Papulose, lymphomatoide Papulosi linfomatoide Papulosis linfomatoide hrdo:pat_id_13860 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant C81.1 98843 histopathological subtype Hodgkin-Lymphom, klassisches, nodulär-sklerosierendes Linfoma de Hodgkin clásico con esclerosis nodular Linfoma de Hodgkin clássico, esclerose nodular Linfoma di Hodgkin classico, tipo nodulare sclerosante Lymphome de Hodgkin classique type sclérosant nodulaire Nodular sclerosis classical Hodgkin lymphoma hrdo:pat_id_13861 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant C81.2 98844 histopathological subtype Hodgkin-Lymphom, klassisches, gemischtzelliges Linfoma de Hodgkin clásico de naturaleza celular mixta Linfoma de Hodgkin clássico, celularidade mista Linfoma di Hodgkin classico a cellularità mista Lymphome de Hodgkin classique à cellularité mixte Mixed cellularity classical Hodgkin lymphoma hrdo:pat_id_13862 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D006689 10020231 neant C81.0 98845 118607005 128799007 C1266194 histopathological subtype Hodgkin-Lymphom, klassisches, lymphozytenreiches Linfoma de Hodgkin clásico, rico en linfocitos Linfoma de Hodgkin clássico, rico em linfócitos Linfoma di Hodgkin classico, ricco di linfociti Lymphocyte-rich classical Hodgkin lymphoma Lymphome de Hodgkin classique riche en lymphocytes hrdo:pat_id_13863 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant C81.3 98846 histopathological subtype Hodgkin-Lymphom, klassisches, lymphozytenarmes Linfoma de Hodgkin clásico, con depleción de linfocitos Linfoma de Hodgkin clássico, pobre em linfócitos Linfoma di Hodgkin classico, povero di linfociti Lymphocyte-depleted classical Hodgkin lymphoma Lymphome de Hodgkin classique pauvre en lymphocytes hrdo:pat_id_13865 Variabel Variabile Variable Variable Variable Variable Variável 10056452 neant D47.0 98848 397356009 70910003 C0272203 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Indolent systemic mastocytosis Mastocitose sistémica indolente Mastocitosi sistemica indolente Mastocitosis sistémica indolente Mastocytose systémique indolente Mastozytose, systemische, indolente Form hrdo:pat_id_13866 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant C96.2 98849 397015000 397357000 C1301365 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Mastocitose sistémica com uma doença hematológica clonal de linhagem não-mastocitária associada Mastocitosi sistemica associata a emopatia clonale non mastocitaria Mastocitosis sistémica asociada a enfermedad hematológica clonal de células no mastocitarias Mastocytose systémique associée à une hémopathie non mastocytaire Mastozytose, systemische, mit assoziierter klonaler hämatologischer Nicht-Mastzell-Erkrankung (SM-AHNMD) Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease hrdo:pat_id_13867 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 10056453 neant C96.2 98850 397008008 397358005 C1112486 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Aggressive systemic mastocytosis Mastocitose sistémica agressiva Mastocitosi sistemica aggressiva Mastocitosis sistémica agresiva Mastocytose systémique agressive Mastozytose, systemische, agressive Form hrdo:pat_id_13868 Variabel Variabile Variable Variable Variable Variable Variável D007946 10056450 neant C94.3 98851 110002002 128924002 C0023461 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Leucémie mastocytaire Leucemia de mastócitos Leucemia mastocitaria Leucemia mastocítica Leucémie à mastocytes Mast cell leukemia Mastzell-Leukämie hrdo:pat_id_13869 263000 neant J84.8 98852 8549006 C0238378 etiological subtype Desquamative interstitial pneumonia Desquamative interstitielle Pneumonie (DIP) Pneumonia intersticial descamativa Pneumonie interstitielle desquamative Pneumonía intersticial descamativa Polmonite desquamativa interstiziale hrdo:pat_id_1387 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 600776 C537767 neant Q02 1104 C1833339 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Fryns microphthalmia syndrome Fryns-Mikrophthalmie-Syndrom Sindrome della microftalmia di Fryns Syndrome microphtalmie de Fryns Síndrome de microftalmía Fryns Anophthalie plus-Syndrom Anophthalmia plus syndrome Sindrome dell'anoftalmia plus Syndrome anophtalmie-plus Síndrome anoftalmia-plus Síndrome de anoftalmía plus hrdo:pat_id_13870 181350 612998 612999 614302 neant G71.0 98853 C0410190 etiological subtype EDMD2 Autosomal dominant Emery-Dreifuss muscular dystrophy Distrofia muscolare di Emery-Dreifuss, autosomica dominante (EDMD2) Distrofia muscular de Emery-Dreifuss autosómica dominante Distrofia muscular de Emery-Dreifuss, autossómica dominante (EDMD2) Dystrophie musculaire d'Emery-Dreifuss autosomique dominante Emery-Dreifuss Muskeldystrophie, autosomal-dominante (EDMD2) hrdo:pat_id_13872 181350 D020389 neant G71.0 98855 C1450051 etiological subtype DMED3 EDMD3 EDMD3 Autosomal recessive Emery-Dreifuss muscular dystrophy Distrofia muscolare di Emery-Dreifuss, autosomica recessiva (EDMD3) Distrofia muscular de Emery-Dreifuss, autossómica recessiva (EDMD3) Distrofia muscular de Emery-Dreifuss, autosómica recesiva Dystrophie musculaire d'Emery-Dreifuss autosomique récessive Emery-Dreifuss Muskeldystrophie, autosomal-rezessive (EDMD3) hrdo:pat_id_13873 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 605588 C537990 neant G60.0 98856 C1854154 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown AR-CMT2B1 AR-CMT2B1 AR-CMT2B1 AR-CMT2B1 Autosomal recessive Charcot-Marie-Tooth disease type 2B1 Autosomal recessive axonal CMT4C1 CMT4C1 assonale, autosomica recessiva CMT4C1 axonale autosomique récessive CMT4C1, axonale, autosomal-rezessive Charcot-Marie-Tooth-Krankheit, autosomal-rezessive, Typ 2B1 Maladie de Charcot-Marie-Tooth autosomique récessive type 2B1 Malattia di Charcot-Marie-Tooth, autosomica recessiva, tipo 2B1 Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth-Krankheit Typ 2B1 Doença de Charcot-Marie-Tooth tipo 2B1 Enfermedad de Charcot-Marie-Tooth tipo 2B1 Maladie de Charcot-Marie-Tooth type 2B1 Malattia di Charcot-Marie-Tooth, tipo 2B1 hrdo:pat_id_13878 244400 neant Q89.3 98861 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Destrocardia - bronchiectasia - sinusite Dextrocardia - bronchiectasis - sinusitis Dextrocardie-bronchiectasie-sinusite Dextrokardie-Bronchiektasie-Sinusitis Discinesia ciliare primitiva, tipo Kartagener Immotile cilia syndrome, Kartagener type Kartagener syndrome Kartagener-Syndrom Primäre Ziliendyskinesie, Typ Kartagener Primäre ziliäre Dyskinesie (PCD) Siewert syndrome Siewert-Syndrom Sindrome di Kartagener Sindrome di Siewert Syndrome d'immotilité ciliaire type Kartagener Syndrome de Kartagener Syndrome de Siewert Dyskinésie ciliaire primitive type Kartagener Primary ciliary dyskinesia, Kartagener type Sindrome da cilia immobili, tipo Kartagener Syndrom der immotilen Zilien, Kartagener Typ Síndrome de cílios imóveis, tipo Kartagener Síndrome de los cilios inmóviles, tipo Kartagener hrdo:pat_id_1388 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 206920 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Ophthalmo+acromelic+syndrome+OR+%28waardenburg%5Btw%5D+AND+anophthalmia%29+OR+%28anophthalmia+AND+syndactyly%29 Q11.2 Q87.2 1106 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anoftalmia - sindactilia Anoftalmia - sindattilia Anophtalmie - syndactylie Anophthalmia - syndactyly Anophthalmie - Anomalien der Gliedmaßen Anophthalmie - Syndaktylie Ophthalmoacromelic syndrome Opthalmo-akromeles Syndrom Sindrome da anoftalmia di Waardenburg Sindrome oftalmoacromelica Syndrome d'anophtalmie de Waardenburg Syndrome ophtalmo-acromélique Síndrome de anoftalmia de Waardenburg Síndrome oftalmo-acromélico Waardenburg anophthalmia syndrome Waardenburg-Anophthalmie-Syndrom Microftalmia con anomalie degli arti Microftalmia con anomalías de las extremidades Microphtalmie avec anomalie des membres Microphthalmia with limb anomalies Mikrophthalmie - Gliedmaßenanomalien Síndrome oftalmo-acromélico hrdo:pat_id_13880 300696 310300 neant G71.0 98863 C0751337 etiological subtype EDMD1 EDMD1 EDMD1 EDMD1 EDMD1 Distrofia muscolare di Emery-Dreifuss legata all'X Distrofia muscular de Emery-Dreifuss ligada al X Distrofia muscular de Emery-Dreifuss, ligada ao X (EDMD1) Dystrophie musculaire d'Emery-dreifuss liée à l'X Emery-Dreifuss Muskeldystrophie, X-chromosomale X-linked Emery-Dreifuss muscular dystrophy hrdo:pat_id_13881 neant D58.1 98864 disease Common hereditary elliptocytosis Eliptocitose, comum, hereditária Eliptocitosis, común, hereditaria Elliptocytose héréditaire commune Elliptozytose, stomatozytische Ellissocitosi ereditaria comune hrdo:pat_id_13882 neant D58.1 98865 disease Eliptocitose, homozigótica, hereditária Eliptocitosis, homozigota, hereditaria Elliptocytose héréditaire homozygote Elliptozytose, hereditäre, homozygote Ellissocitosi ereditaria omozigote Homozygous hereditary elliptocytosis hrdo:pat_id_13883 neant D58.1 98866 disease Eliptocitose esferocítica Eliptocitosis, esferocítica Elliptocytose sphérocytique Elliptozytose, sphärozytische Ellissocitosi sferocitica Spherocytic elliptocytosis hrdo:pat_id_13884 266140 neant D58.1 98867 9434008 C0520739 disease Hereditary pyropoikilocytosis Piropoichilocitosi ereditaria Piropoiquilocitose hereditária Piropoiquilocitosis, hereditaria Pyropoikilocytose héréditaire Pyropoikilozytose, hereditäre hrdo:pat_id_13885 neant D58.1 98868 disease Ovalocitose do sudeste asiático Ovalocitosi, tipo sudestasiatico Ovalocitosis del sudeste asiático Ovalocytose de l'asie du Sud-Est Ovalozytose, südostasiatische Southeast asian ovalocytosis hrdo:pat_id_13886 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 224120 neant D64.4 98869 59548005 C0271933 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CDA Typ I CDA tipo I CDA type 1 CDA type 1 CDA, tipo 1 CDAI CDAI CDAI CDAI CDAI Anemia diseritropoietica congenita, tipo 1 Anemia diseritropoiética, congénita, tipo I Anemia diseritropoyética congénita tipo 1 Anämie, dyserythropoetische, kongenitale, Typ 1 Anémie dysérythropoïétique congénitale type 1 Congenital dyserythropoietic anemia type 1 hrdo:pat_id_13887 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 105600 neant D64.4 98870 26409005 C0271934 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CDA type 3 CDA type 3 CDAIII CDAIII Anemia diseritropoiética, congénita, tipo III Anémie dysérythropoïétique congénitale type 3 CDA Typ III CDA tipo III CDA, tipo 3 Congenital dyserythropoietic anemia type 3 hrdo:pat_id_13888 227050 C536980 neant D60.1 98871 234375006 C0238478 disease Aplasia de glóbulos rojos pura adquirida transitoria Aplasia pura acquisita transitoria degli eritrociti Aplasie transitoire acquise de la lignée rouge Erythroblastopenie, erworbene transiente Transient acquired pure red cell aplasia Eritroblastopenia da infância, transitória Eritroblastopenia transitoria de la infancia Eritroblastopenia transitoria dell'infanzia Erythroblastopenie, transiente, des Kindesalters Erythroblastopénie transitoire de l'enfance Transient erythroblastopenia of childhood hrdo:pat_id_13889 neant D60.0 98872 disease Erythroblastopenie im Erwachsenenalter Adult pure red cell aplasia Aplasia acuta acquisita degli eritrociti puri Aplasia pura de células rojas, forma adulta Aplasia pura dos glóbulos vermelhos, forma adulta Aplasie pure des globules rouges de l'adulte PRCA, adulte hrdo:pat_id_13890 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 224100 neant D64.4 98873 68870007 C1306589 disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 CDA Typ II CDA tipo 2 CDA type 2 CDA type 2 CDA, tipo 2 CDAII CDAII CDAII CDAII CDAII HEMPAS Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas) Hereditäre erythroblastische Multinuklearität mit positivem Säure-Serumtest (HEMPAS) Multinuclearidad eritroblástica hereditaria con prueba de suero acidificado positiva (HEMPAS) Multinuclearità eritroblastica ereditaria con positività del test del siero acidificato (hempas) Multinucléarité érythroblastique héréditaire avec test de lyse positif dans un sérum acidifié SEC23B-CDG syndrome Sindrome SEC23B-CDG Syndrome SEC23B-CDG Síndrome SEC23B-CDG Anemia diseritropoietica congenita, tipo 2 Anemia diseritropoiética, congénita, tipo II Anemia diseritropoyética congénita tipo 2 Anämie, dyserythropoetische, kongenitale, Typ 2 Anémie dysérythropoïétique congénitale type 2 Congenital dyserythropoietic anemia type 2 hrdo:pat_id_13895 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 134500 306700 D006467 10016080 neant D66 98878 234440005 28293008 C0019069 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Deficit del fattore VIII Déficit en facteur VIII Factor VIII deficiency Faktor VIII-Mangel Emofilia A Hemofilia A Hemofilia A Hemophilia A Hämophilie A Hémophilie A hrdo:pat_id_13896 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 306900 D002836 10016077 neant D67 98879 41788008 C0008533 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Deficit del fattore IX Déficit en facteur IX Factor IX deficiency Faktor IX-Mangel Emofilia B Hemofilia B Hemofilia B Hemophilia B Hämophilie B Hémophilie B hrdo:pat_id_13897 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 202400 neant D68.2 98880 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Afibrinogenemia familiar Afibrinogenemia familiar Afibrinogenemia familiare Afibrinogenämie, familiäre Afibrinogénémie familiale Familial afibrinogenemia hrdo:pat_id_13898 Variabel Variabile Variable Variable Variable Variable Variável 202400 neant D68.2 98881 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Disfibrinogenemia familiar Disfibrinogenemia familiar Disfibrinogenemia familiare Dysfibrinogenämie, familiäre Dysfibrinogénémie familiale Familial dysfibrinogenemia hrdo:pat_id_139 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 176270 D011218 10036476 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%28snrpn%5Bti%5D+OR+%22prader-willi+syndrome%22%5BTi%5D%29+NOT+Medline%5BSB%5D%29+OR+%22prader-willi+syndrome%22%5BMeSH+Terms%5D Q87.1 739 89392001 C0032897 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Prader-Labhart-Willi syndrome Prader-Labhart-Willi-Syndrom Sindrome di Prader-Labhart-Willi Sindrome di Willi-Prader Syndrome de Prader-Labhart-Willi Syndrome de Willi-Prader Síndrome de Prader-Labhart-Willi Síndrome de Willi-Prader Síndrome de Willi-Prader Willi-Prader syndrome Willi-Prader, síndrome de Willi-Prader-Syndrom Prader-Willi syndrome Prader-Willi-Syndrom Sindrome di Prader-Willi Syndrome de Prader-Willi Síndrome de Prader-Willi Síndrome de Prader-Willi hrdo:pat_id_13902 614201 neant D69.8 98885 etiological subtype Glykoprotein VI-Mangel-Mangel Bleeding diathesis due to glycoprotein VI deficiency Deficit di glicoproteina VI Deficiência de glicoproteina VI Déficit de glicoproteína VI Glykoprotein VI-Mangel-Mangel Troubles hémorragiques par déficit en glycoprotéine VI hrdo:pat_id_13903 614200 neant D69.8 98886 etiological subtype Integrin alpha2-beta1-Mangel Bleeding diathesis due to integrin alpha2-beta1 deficiency Deficit di integrina alfa2-beta1 Deficiência de integrina alfa2-beta1 Déficit de integrina alfa2-beta1 Hämorrhagische Diathese durch Integrin alpha2-beta1-Mangel Troubles hémmoragiques par déficit en intégrine alpha2bêta1 hrdo:pat_id_13905 neant G11.4 98888 group of phenomes Complex X-linked HSP Complex X-linked SPG Complicated X-linked HSP Complicated X-linked SPG HSP complexe liée à l'X SPG complexe liée à l'X X-linked complicated spastic paraplegia Hereditäre spastische Paraplegie, X-chromosomale, komplexe Paraparésia espástica hereditária, complexa, ligada ao X Paraplegia spastica ereditaria complessa legata all'X Paraplejia espástica hereditaria, forma compleja ligada al X Paraplégie spastique complexe liée à l'X X-linked complex spastic paraplegia hrdo:pat_id_13906 300388 neant Q04.3 98889 clinical subtype Bilateral perisylvian polymicrogyria Polimicrogiria bilateral perisilviana Polimicrogiria bilaterale perisilviana Polimicrogiria, bilateral, perisilviana Polymicrogyrie bilatérale périsylvienne Polymikrogyrie, bilaterale perisylvische hrdo:pat_id_13907 311050 neant H47.2 98890 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Atrofia ottica a esordio precoce, tipo non Leber Atrofia ottica, tipo 2 Atrofia óptica de aparición temprana tipo no-Leber Atrofia óptica tipo 2 Atrophie optique précoce de type non-Leber Atrophie optique type 2 Non-Leber type optic atrophy with early-onset OPA2 OPA2 OPA2 OPA2 OPA2 Optic atrophy type 2 Optikusatrophie (nicht Typ Leber) mit frühem Beginn Optikusatrophie Typ 2 Atrofia ottica legata all'X a esordio precoce Atrofia óptica de aparición temprana ligada al X Atrofia ótica, tipo 2 (OPA2) Atrophie optique précoce liée à l'X Early-onset X-linked optic atrophy Optikusatrophie, X-chromosomale, mit frühem Beginn hrdo:pat_id_13909 300049 608097 608098 612881 D054091 10066854 neant Q04.8 98892 C1868720 clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Eterotopia nodulare periventricolare Heterotopia nodular periventricular Heterotopia nodular periventricular Heterotopie, noduläre periventrikuläre Hétérotopie nodulaire périventriculaire Periventricular nodular heterotopia hrdo:pat_id_1391 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 207410 C537780 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28multisynostotic+osteodysgenesis+OR+%28Antley%5BTI%5D+AND+bixler%5BTI%5D%29%29+NOT+steroidogenesis Q87.0 83 62964007 C0265307 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Antley-Bixler syndrome Antley-Bixler-Syndrom Sindrome di Antley-Bixler Syndrome d'Antley-Bixler Síndrome de Antley-Bixler Síndrome de Antley-Bixler hrdo:pat_id_13910 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 604801 neant G71.2 98893 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Congenital muscular dystrophy type 1B Distrofia muscolare congenita, tipo 1B Distrofia muscular congénita tipo 1B Distrofia muscular congénita, tipo 1b Dystrophie musculaire congénitale type 1B Muskeldystrophie, kongenitale, Typ 1B hrdo:pat_id_13911 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 608840 neant G71.2 98894 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Congenital muscular dystrophy type 1D Distrofia muscolare congenita, tipo 1D Distrofia muscular congénita tipo 1D Distrofia muscular congénita, tipo 1d Dystrophie musculaire congénitale type 1D Muskeldystrophie, kongenitale, Typ 1D hrdo:pat_id_13912 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 159050 300376 C537666 10059117 neant G71.0 98895 387732009 C0917713 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 BMD BMD Becker dystrophinopathy DMB Distrofinopatia di Becker Distrofinopatía de Becker Dystrophinopathie de Becker Dystrophinopathie vom Typ Becker Becker muscular dystrophy Distrofia muscolare, tipo Becker Distrofia muscular tipo Becker Distrofia muscular, tipo Becker Dystrophie musculaire de Becker Muskeldystrophie Typ Becker hrdo:pat_id_13913 Adulte jeune Adultos jóvenes Giovani adulti Jovem adulto Junge Erwachsene Young adult Young adult Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 310200 D020388 10013801 neant G71.0 98896 76670001 C0013264 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 DMD DMD DMD DMD DMD Distrofinopatia grave, tipo Duchenne Distrofinopatía grave, tipo Duchenne Dystrophinopathie de Duchenne Dystrophinopathie vom Typ Duchenne Dystrophinopathie, Schwere, Typ Duchenne Severe dystrophinopathy, Duchenne type Distrofia muscolare di Duchenne Distrofia muscular de Duchenne Distrofia muscular, tipo Duchenne Duchenne muscular dystrophy Dystrophie musculaire de Duchenne Muskeldystrophie Typ Duchenne hrdo:pat_id_13914 164310 neant G71.0 98897 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Miopatia oculo-faringo-distale Miopatia oculofaringodistal Miopatía oculofaringodistal Myopathie oculo-pharyngo-distale Myopathie, okulo-pharyngo-distale Oculopharyngodistal myopathy hrdo:pat_id_13919 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant G71.2 98902 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Amish nemaline myopathy Miopatia nemalinica, tipo Amish Miopatia nemalínica, tipo Amish Miopatía nemalínica, tipo Amish Myopathie némaline type Amish Nemalin-Myopathie Typ Amish hrdo:pat_id_1392 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 107500 C537785 neant Q87.8 1110 C1862682 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anomalia dell'arco aortico - dismorfismi - ritardo mentale Anomalia do arco aórtico - face peculiar - atraso mental Anomalías del arco aórtico - dismorfismo - déficit intelectual Aortenbogen-Anomalie - Dysmorphien - geistige Retardierung Aortic arch anomaly - peculiar facies - intellectual deficit Arc aortique anormal - dysmorphie - déficit intellectuel hrdo:pat_id_13921 161800 neant G71.2 98904 disease Actin myopathy Actine myopathie Aktin-Myopathie Miopatia da actina Miopatía de actina Congenital myopathy with excess of thin filaments Miopatia congenita con eccesso di filamenti sottili Miopatia congénita com excesso de filamentos finos Miopatía congénita con exceso de filamentos delgados Myopathie congénitale avec excès de filaments fins Myopathie, kongenitale, mit Exzess dünner Filamente hrdo:pat_id_13922 255320 neant G71.2 98905 clinical subtype Congenital multicore myopathy with external ophthalmoplegia Miopatia ''multicore'' congenita con oftalmoplegia esterna Miopatia multicore com oftalmoplegia externa, congénita Miopatía congénita multicore con oftalmoplejia externa Multicore-Myopathie, kongenitale, mit externer Ophtalmoplegie Myopathie à multi-minicores avec ophtalmoplégie externe hrdo:pat_id_13924 275630 neant E75.5 98907 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Enfermedad de almacenamiento de lípidos con ictiosis Lipidose avec surcharge en triglycérides et ichtyose Malattia da deposito di lipidi neutri con ittiosi NLSDI NLSDI NLSDI NLSDI Neutral lipid storage disease with ichthyosis Neutrallipidspeicherkrankheit mit Ichthyose Doença de Dorfman-Chanarin Dorfman-Chanarin disease Dorfman-Chanarin-Krankheit Enfermedad de Dorfman-Chanarin Maladie de Dorfman-Chanarin Malatti di Dorfman-Chanarin hrdo:pat_id_13925 610717 neant E75.5 98908 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Enfermedad por acúmulo de lípidos neutros con miopatía sin ictiosis Maladie à surcharge lipidique avec myopathie sans ichtyose Malattia da deposito di lipidi neutri con miopatia senza ittiosi NLSDM NLSDM NLSDM NLSDM Neutral lipid storage disease with myopathy without ichthyosis Miopatia da deposito di lipidi neutri Miopatia de armazenamento de lípidos neutros Miopatía por acúmulo de lípidos neutros Myopathie à surcharge lipidique multisystémique Neutral lipid storage myopathy Neutrallipidspeicherkrankheit mit Myopathie hrdo:pat_id_13926 601419 neant G71.8 98909 disease Desmin-related myofibrillar myopathy Miopatia miofibrillare legata alla desmina Miopatía miofibrilar relacionada con la desmina Myofibrilläre Myopathie, Desmin-assoziierte Myopathie myofibrillaire liée à la Desmine Desminopathie Desminopathie Desminopathy Desminopatia Desminopatia Desminopatía hrdo:pat_id_13927 608810 neant G71.8 98910 disease CRYAB-related myofobrillar myopathy Miopatia miofibrillare associata a CRYAB Miopatía miofibrilar relacionada con CRYAB Myofibrilläre Myopathie, CRYAB-assoziierte Myopathie myofibrillaire liée à CRYAB Alfa-cristalinopatía Alfa-cristallinopatia Alpha-Cristallinopathie Alpha-cristallinopathie Alpha-crystallinopathy Cristalinopatia alfa (cryab) hrdo:pat_id_13928 609200 neant G71.8 98911 disease Miopatia miofibrillare associata alla miotilina senza corpi sferoidi Miopatía miofibrilar asociada a la miotilina sin cuerpos esferoides Miotilinopatia Myopathie myofibrillaire associée à la myotiline sans corps sphéroîdes Myotilin-abhängige myofibrilläre Myopathie ohne Spheroidkörper Myotilin-related myofibrillar myopathy without spheroid body hrdo:pat_id_13929 609452 neant G71.8 98912 disease ZASPopathie ZASPopathie ZASPopathy ZASPopatía Zaspopatia Miopatia miofibrilar relacionada com ZASP Miopatia miofibrillare correlata al gene ZASP Miopatía miofibrilar relacionada con ZASP Myofibrilläre Myopathie mit ZASP-Genmutation Myopathie myofibrillaire par mutation du gène ZASP ZASP-related myofibrillar myopathy hrdo:pat_id_13930 601462 608930 608931 614198 neant G70.2 98913 clinical subtype Myasthenische Syndrome, kongenitale postsynaptische Postsynaptic congenital myasthenic syndromes Sindromi miasteniche congenite postsinaptiche Syndromes myasthéniques congénitaux post-synaptiques Síndromes miasténicos, congénitos postsinápticos Síndromes miasténicos, congénitos, pós-sinápticos hrdo:pat_id_13931 254210 neant G70.2 98914 clinical subtype Myasthenische Syndrome, kongenitale präsynaptische Presynaptic congenital myasthenic syndromes Sindromi miasteniche congenite presinaptiche Syndromes myasthéniques congénitaux pré-synaptiques Síndromes miasténicos, congénitos presinápticos Síndromes miasténicos, congénitos, pré-sinápticos hrdo:pat_id_13932 603034 neant G70.2 98915 clinical subtype Myasthenische Syndrome, kongenitale synpatische Sindromi miasteniche congenite sinaptiche Synaptic congenital myasthenic syndromes Syndromes myasthéniques congénitaux synaptiques Síndromes miasténicos, congénitos sinápticos Síndromes miasténicos, congénitos, sinápticos hrdo:pat_id_13933 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 139393 neant G61.0 98916 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 AIDP AIDP AIDP AIDP Acute idiopathic demyelinating polyneuropathy Acute inflammatory polyneuropathy GBS, acute inflammatory demyelinating polyradiculoneuropathic form GBS, forma poliradiculoneuropatica demielinizzante infiammatoria acuta GBS, forma polirradiculoneuropatía desmielinizante inflamatoria aguda Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form Guillain-Barré-Syndrom, akute entzündliche polyradikuloneuritische Form PDIA Polineuropatia demielinizzante idiopatica acuta Polineuropatia infiammatoria acuta Polineuropatía desmielinizante idiopática aguda Polineuropatía inflamatoria aguda Polyneuropathie démyélinisante idiopathique aiguë Polyneuropathie inflammatoire aiguë Polyneuropathie, akute demyelinisierende idiopathische Polyneuropathie, akute inflammatorische SGB, forme polyradiculonévrite démyélinisante inflammatoire aiguë Sindrome di Guillain-Barré, forma poliradiculoneuropatica demielinizzante infiammatoria acuta Syndrome de Guillain-Barré, forme polyradiculonévrite démyélinisante inflammatoire aiguë Síndrome de Guillain-Barré, forma polineuropatía desmielinizante idiopática aguda Acute inflammatory demyelinating polyradiculoneuropathy Akute demyelinisierende inflammatorische Polyradikuloneuropathie Poliradiculoneuropatia demielinizzante infiammatoria acuta Polirradiculoneuropatia inflamatória aguda (aidp) Polirradiculoneuropatía desmielinizante inflamatoria aguda Polyradiculonévrite démyélinisante inflammatoire aiguë hrdo:pat_id_13934 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável neant G61.0 98917 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 AMSAN AMSAN AMSAN AMSAN Acute motor-sensory axonal GBS Acute motor-sensory axonal Guillain-Barré syndrome GBS assonale sensitivo-motoria acuta GBS axonal agudo motor y sensitivo Guillain-Barré-Syndrom, akutes axonales motorisch-sensorisches SGB axonal sensorimoteur aiguë Sindrome assonale sensitivo-motoria acuta di Guillain-Barré Syndrome de Guillain-Barré axonal sensorimoteur aiguë Acute motor-sensory axonal neuropathy Neuropathie sensitivo-motrice axonale aiguë Neuropathie, akute axonale motorisch-sensorische Neuropatia assonale sensitivo-motoria acuta Neuropatia, sensitiva e motora, axonal, aguda Neuropatía axonal aguda motora y sensitiva hrdo:pat_id_13935 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável neant G61.0 98918 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 AMAN AMAN AMAN AMAN Acute pure motor GBS Acute pure motor Guillain-Barré syndrome GBS motoria pura acuta GBS puro motor agudo Guillain-Barré-Syndrom, akutes, rein motorisches SGB moteur pur Sindrome motoria pura acuta di Guillain-Barré Syndrome de Guillain-Barré moteur pur Síndrome de Guillain-Barré puro motor agudo Acute motor axonal neuropathy Neuropathie axonale motrice aiguë Neuropathie, akute axonale motorische Neuropatia assonale motoria acuta Neuropatia motora axonal, aguda (AMAN) Neuropatía axonal motora aguda hrdo:pat_id_13936 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável D019846 10049567 neant G61.0 98919 1767005 C0393799 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Cranial variant of GBS Cranial variant of Guillain-Barré syndrome Fisher syndrome Fisher-Syndrom GBS variante craneal Guillain-Barré-Syndrom, kraniale Variante Sindrome di Fisher Sindrome di Guillain-Barré, variante cranica Syndrome de Fisher Variant crânien du SGB Variant crânien du syndrome de Guillain-Barré Variante cranica di GBS Miller-Fisher syndrome Miller-Fisher syndrome Sindrome di Miller-Fisher Syndrome de Miller-Fisher Síndrome de Miller-Fisher Síndrome de Miller-Fisher (MFS) hrdo:pat_id_13937 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 604320 614399 neant G12.2 98920 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Amyotrophie spinale diaphragmatique Amyotrophie spinale distale autosomique recessive type 1 Atrofia muscolare spinale diaframmatica Atrofia muscolare spinale distale autosomica recessiva, tipo 1 Atrofia muscular espinal diafragmática Atrofia muscular espinal distal autosómica recesiva tipo 1 Atrophie musculaire spinale distale autosomique recessive type 1 Autosomal recessive distal spinal muscular atrophy type 1 Autosomal-rezessive distale spinale Muskelatrophie Typ 1 DSMA1 DSMA1 DSMA1 Diaphragmatic spinal muscular atrophy Diaphragmatische SMA mit initial respiratorischer Insuffizienz Distal hereditary motor neuropathy type 6 Distal-HMN type 6 Distale HMN Typ 6 HMN distale, tipo 6 HMN6 HMN6 Neuropathie axonale infantile sévère avec insuffisance respiratoire Neuropathie motrice distale héréditaire type 6 Neuropathie, distale hereditäre motorische, Typ 6 Neuropatia assonale infantile grave con insufficienza respiratoria Neuropatia motoria ereditaria distale, tipo 6 Neuropatía axonal infantil grave con insuficiencia respiratoria Neuropatía motora hereditaria distal tipo 6 SIANRF SIANRF SIANRF SIANRF SIANRF SMA mit Atemnot SMARD SMARD SMARD SMARD SMARD SMARD1 SMARD1 SMARD1 SMARD1 SMARD1 Severe infantile axonal neuropathy with respiratory failure dHMN6 dHMN6 dHMN6 dSMA1 dSMA1 dSMA1 Amyotrophie spinale avec détresse respiratoire Atrofia muscolare spinale con distress respiratorio Atrofia muscular espinal con insuficiencia respiratoria Atrofia muscular espinhal com insuficiência respiratória Spinal muscular atrophy with respiratory distress Spinale Muskelatrophie mit Atemnot hrdo:pat_id_13939 neant Q03.1 98922 morphological anomaly Blake's pouch cyst Blake-Tasche Cisti della tasca di Blake Persistance du kyste de la poche de Blake Quiste de la bolsa de Blake Quisto da bolsa de Blake hrdo:pat_id_1394 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 207620 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28finger+phalanges/ab+OR+Aphalang*%29+AND+%28spine/ab+OR+hemivertebra*%29 Q87.8 1112 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Johnson-Munson syndrome Johnson-Munson, síndrome de Johnson-Munson-Syndrom Sindrome di Johnson-Munson Syndrome de Johnson-Munson Síndrome de Johnson-Munson Síndrome de Johnson-Munson Afalangia - emivertebre - disgenesia urogenitale-intestinale Afalangia - hemivertebras - disgenesia urogenital e intestinal Afalangia - hemivértebras - disgenesia urogenital-intestinal Aphalangie - Hemivertebrae - urogenital-intestinale Dysgenesie Aphalangie - hémivertèbre - dysgénésie uro-génito-intestinale Aphalangy - hemivertebrae - urogenital-intestinal dysgenesis hrdo:pat_id_13949 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D012791 10040623 neant G90.3 98932 16576004 C0037019 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype AMS - trouble urinaire Atrophie multisystématisée - trouble urinaire MSA - urinary dysfunction Multiple system atrophy - urinary dysfunction SDS SDS Shy-Drager syndrome Shy-Drager-Syndrom Sindrome di Shy-Drager Syndrome de Shy-Drager Síndrome de Shy-Drager Síndrome de Shy-Drager hrdo:pat_id_1395 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 600384 neant Q87.2 1113 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Afalangia - sindactilia - microcefalia Afalangia - sindattilia - microcefalia Afalangia sindactilia microcefalia Aphalangie - Syndaktylie - Mikrozephalie Aphalangie - syndactylie - microcéphalie Aphalangy - syndactyly - microcephaly hrdo:pat_id_13950 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant G23.2 98933 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype AMS, type parkinsonien AMS-p ASM, tipo parkinsoniano ASM-p Degeneración estriatonígrica Degenerazione nigrostriatale Dégénérescence striato-nigrale MSA vom Parkinsontyp MSA, parkinsonian type MSA, tipo parkinsoniano MSA-P MSA-p MSA-p Striatonigral degeneration Striatonigrale Degeneration Atrofia multisistemica, tipo parkinsoniano Atrofia sistémica múltiple, tipo parkinsoniano Atrophie multisystématisée, type parkinsonien Degeneração estriatonígrica Multiple system atrophy, parkinsonian type Multisystematrophie vom Typ Parkinson hrdo:pat_id_13951 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 606438 neant 98934 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 HDL2 HDL2 HDL2 HDL2 Chorea Huntington-ähnliche Krankheit 2 Doença Huntington-like 2 Enfermedad de Huntington-like 2 Huntington disease-like 2 Maladie de Huntington-like 2 Malattia Huntington-simile 2 hrdo:pat_id_13955 251505 300345 601186 605738 610092 611638 613703 614497 615145 neant Q11.2 98938 malformation syndrome MAC MAC MAC MAC Microftalmia - anoftalmia - coloboma Microftalmia - anoftalmia - coloboma Microftalmia con cisti colobomatosa Microftalmia con quistes colobomatosos Microphtalmie - anophtalmie - colobome Microphtalmie - kyste colobomateux Microphthalmia - anophthalmia - coloboma Microphthalmia with colobomatous cyst Mikrophtalmie mit Kolobom-Zysten Colobomatous microphthalmia Microftalmia colobomatosa Microftalmia colobomatosa Microftalmia colobomatosa Microphtalmie colobomateuse Mikrophtalmie, kolobomatöse hrdo:pat_id_13958 neant Q13.4 98941 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Anomalia de von Hippel Anomalia di Von Hippel Anomalie de Von Hippel Anomalía de Von Hippel Von Hippel anomaly Von-Hippel-Anomalie hrdo:pat_id_13959 neant Q14.8 98942 morphological anomaly Coloboma corio-retiniano Coloboma corio-retinico Coloboma da coróide e retina Coloboma of choroid and retina Colobome chorio-rétinien Retinakolobom hrdo:pat_id_1396 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 600360 C536840 Q84.8 1115 C1838206 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Aplasia cutanea congenita degli arti, forma recessiva Aplasia cutis congenita der Gliedmaßen, rezessive Aplasia cutis congénita de miembros forma recesiva Aplasia cutânea congénita nos membros, forma recessiva Aplasie cutanée congénitale des membres autosomique récessive Recessive aplasia cutis congenita of limbs hrdo:pat_id_13960 neant Q12.2 98943 204134008 C0344516 morphological anomaly Coloboma de cristalino Coloboma del cristallino Coloboma do cristalino Coloboma of eye lens Colobome du cristallin Linsenkolobom hrdo:pat_id_13961 10052642 neant Q13.0 98944 9446007 morphological anomaly Coloboma da íris Coloboma de iris Coloboma dell'iride Coloboma of iris Colobome irien Iriskolobom hrdo:pat_id_13962 120300 neant Q14.8 98945 morphological anomaly Coloboma da mácula Coloboma macular Coloboma maculare Coloboma of macula Colobome maculaire Makulakolobom hrdo:pat_id_13963 neant Q10.3 98946 95202004 C0521573 morphological anomaly Coloboma da pálpebra Coloboma de párpado Coloboma delle palpebre Coloboma of eyelid Colobome de la paupière Lidkolobom hrdo:pat_id_13964 neant Q14.2 98947 morphological anomaly Coloboma da papila ótica Coloboma de las papilas ópticas Coloboma della papilla ottica Coloboma of optic papilla Colobome papillaire Papillenkolobom hrdo:pat_id_13965 neant Q11.2 98948 clinical subtype Congenital symblepharon Simblefaron congenito Simblefaron congénito Simbléfaron congénito Symblepharon, kongenitales Symblépharon congénital hrdo:pat_id_13966 neant Q11.2 98949 clinical subtype Complete cryptophthalmia Criptoftalmia completa Criptoftalmia completa Criptoftalmia, completa Cryptophtalmie complète Kryptophthalmie, komplette hrdo:pat_id_13967 neant Q11.2 98950 clinical subtype Criptoftalmia parcial Criptoftalmia parziale Criptoftalmia, parcial Cryptophtalmie partielle Kryptophthalmie, partielle Partial cryptophthalmia hrdo:pat_id_13968 neant Q07.8 98951 clinical subtype Fenomeno inverso di Marcus-Gunn Fenómeno de Marcus-Gunn inverso Fenómeno de Marcus-Gunn invertido Inverse Marcus-Gunn phenomenon Inverses Marcus-Gunn-Phänomen Phénomène de Marcus-Gunn inversé hrdo:pat_id_1397 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 207731 C537788 1116 C1859753 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Aplasia cutanea congenita, autosomica recessiva Aplasia cutis congenita, autosomal-rezessive Aplasie cutanée congénitale autosomique récessive Autosomal recessive aplasia cutis Bronspiegel-Zelnick syndrome Bronspiegel-Zelnick-Syndrom Sindrome di Bronspiegel-Zelnick Syndrome de Bronspiegel-Zelnick Síndrome de Bronspiegel-Zelnick Aplasia cutanea congenita - linfangectasia intestinale Aplasia cutis congenita - intestinal lymphangiectasia Aplasia cutis congenita mit intestinaler Lymphangiektasie Aplasia cutis congénita - linfangiectasia intestinal Aplasia cutânea congénita - linfangiectasia intestinal Aplasie cutanée congénitale - lymphangiectasie intestinale hrdo:pat_id_13971 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 122100 D053559 neant H18.5 98954 1674008 C0339277 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Distrofia epitelial hereditaria juvenil de Meesmann Distrofia epiteliale ereditaria giovanile di Messman Dystrophie épithéliale juvénile héréditaire de Meesmann Hornhautdystrophie, epitheliale juvenile, Typ Meesmann Juvenile hereditary epithelial dystrophy of Meesmann MECD MECD MECD MECD MECD Distrofia corneal de Meesmann Distrofia corneale di Meesmann Distrofia corneana epitelial, juvenil, tipo Meesmann Dystrophie cornéenne de Meesmann Meesmann corneal dystrophy Meesmann-Hornhautdystrophie, juvenile hrdo:pat_id_13972 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 300778 neant H18.5 98955 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Band-shaped and whorled microcystic dystrophy of the corneal epithelium Distrofia microcistica a bande dell'epitelio corneale Distrofia microquística en forma de banda y verticilada del epitelio corneal LECD LECD LECD LECD LECD Sekundäre subepitheliale bandförmige Keratopathie Distrofia corneal epitelial de Lisch Distrofia corneale epiteliale di Lisch Distrofia corneana, tipo Lisch Dystrophie cornéenne de Lisch Lisch epithelial corneal dystrophy Lisch-epitheliale Hornhautdystrophie hrdo:pat_id_13973 121820 neant H18.5 98956 disease Distrofia corneal, microquística Distrofia corneale microcistica Distrofia corneana, microquística Dystrophie épithéliale microkystique de Cogan Hornhautdystrophie, mikrozystische Microcystic corneal dystrophy hrdo:pat_id_13974 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 204870 C535480 neant H18.5 98957 418946006 C0339273 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Amiloidosi familiare primitiva della cornea Amiloidosi subepiteliale della cornea Amiloidosis familiar primaria de la córnea Amiloidosis subepitelial de la córnea Amyloidose der Hornhaut, familiäre primäre Amyloidose der Hornhaut, subepitheliale Amylose primitive familiale de la cornée Amylose sous-épithéliale de la cornée Dystrophie amyloîde gélatineuse GDCD GDCD GDCD GDCD GDLD Primary familial amyloidosis of the cornea Subepithelial amyloidosis of the cornea Distrofia corneal gelatinosa en gotas Distrofia corneale gelatinosa a goccia Distrofia corneana, gelatinosa em gota Dystrophie cornéenne gélatineuse en goutte Gelatinous drop-like corneal dystrophy Hornhautdystrophie, gelatinöse tropfenförmige hrdo:pat_id_13975 217500 217520 neant H18.5 98958 disease Distrofia corneal, Honey-droplet Distrofia corneale a ''gocce di miele'' Distrofia corneana, gota de mel Dystrophie cornéenne sphéroïdale en bandelettes Honey-droplet corneal dystrophy Hornhautdystrophie, wabenförmige hrdo:pat_id_13976 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 612867 neant H18.5 98959 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SMCD SMCD SMCD SMCD SMCD Distrofia corneal mucinosa subepitelial Distrofia corneale mucinosa subepiteliale Distrofia corneana, subepitelial mucinosa Dystrophie cornéenne sous-épithéliale mucineuse Hornhautdystrophie, muzinöse subepitheliale Subepithelial mucinous corneal dystrophy hrdo:pat_id_13977 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 602082 neant H18.5 98960 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ALMD II Anterior limiting membrane dystrophy type II Corneal dystrophy of Bowman layer type II Curly fiber corneal dystrophy Distrofia corneal de Waardenburg-Jonker Distrofia corneal de fibras de colágeno rizadas Distrofia corneal de la capa de Bowman tipo II Distrofia corneal en panal de miel Distrofia corneale a nido d'api Distrofia corneale con fibre a spirale Distrofia corneale della membrana di Bowman, tipo II Distrofia corneale di Waardenburg-Jonker Distrofia de membrana limitante anterior tipo II Distrofia della membrana limitante anteriore, tipo II Dystrophie cornéenne de Waardenburg Jonker Dystrophie cornéenne de la membrane de Bowman type II Dystrophie cornéenne en ''rayon de miel'' Gewundene Filamente („curly fibers“) Hornhautdystrophie Honeycomb corneal dystrophy Hornhautdystrophie der Bowman-Lamelle Typ II HornhautdystrophieWaardenburg-Jonkers TBCD TBCD TBCD TBCD TBCD Waardenburg-Jonker corneal dystrophy Wabenförmige Hornhautdystrophie Distrofia corneal de Thiel-Behnke Distrofia corneale di Thiel-Behnke Distrofia corneana, tipo Thiel-Behnke Dystrophie cornéenne de Thiel-Behnke Thiel-Behnke corneal dystrophy Thiel-Behnke-Hornhautdystrophie hrdo:pat_id_13978 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 608470 neant H18.5 98961 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ALMD I Anterior limiting membrane dystrophy type I Atypical granular corneal dystrophy Corneal dystrophy of Bowman layer type I Distrofia corneale a carta geografica Distrofia corneale della membrana di Bowman, tipo I Distrofia corneale granulare atipica Distrofia corneale granulare superficiale Distrofia corneale granulare, tipo III Distrofia della membrana limitante anteriore, tipo I Dystrophie cornéenne de Bowman type I Dystrophie cornéenne en cartes géographiques Dystrophie cornéenne granulaire atypique Dystrophie cornéenne granulaire superficielle Dystrophie cornéenne granulaire type III Geografische Hornhautdystrophie (Weidle) Geographic corneal dystrophy Granular corneal dystrophy type III Granuläre Hornhautdystrophie Typ III Hornhautdystrophie der Bowman-Lamelle Typ I Hornhautdystrophie, atypische granuläre Oberflächliche granuläre Hornhautdystrophie RBCD RBCD RBCD Superficial granular corneal dystrophy Distrofia corneal de Reis-Bücklers Distrofia corneale di Reis-Bûcklers Distrofia corneana, tipo Reis-Buckler Dystrophie cornéenne de Reis-Bücklers Reis-Bücklers corneal dystrophy Reis-Bücklers-Hornhautdystrophie hrdo:pat_id_13979 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 121900 neant H18.5 98962 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Classic GCD Classic granular corneal dystrophy Corneal dystrophy Groenouw type I Distrofia corneal de Groenouw tipo I Distrofia corneal granular clásica Distrofia corneal granular tipo 1 Distrofia corneale di Groenouw, tipo I Distrofia corneale granulare classica Distrofia corneale granulare, tipo 1 Dystrophie cornéenne de Groenouw type I Dystrophie cornéenne granulaire classique Dystrophie cornéenne granulaire de type 1 GCD classica GCD clásica GCD1 GCD1 GCD1 GCD1 GCD1 GCDI GCDI GCDI GCDI GCDI Granular corneal dystrophy type 1 Granuläre Hornhautdystrophie, Typ 1 Granuläre Hornhautdystrophie, klassische Hornhautdystrophie Typ Groenouw I Distrofia corneal granular tipo I Distrofia corneale granulare, tipo I Distrofia corneana, tipo Groenouw Dystrophie cornéenne granulaire de type I Granular corneal dystrophy type I Groenouw-Hornhautdystrophie Typ I hrdo:pat_id_1398 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601075 1117 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Gershoni-Baruch-Leibo syndrome Gershonibaruch-Leibo-Syndrom Sindrome di Gershoni-Baruch-Leibo Syndrome de Gershoni-Baruch-Leibo Síndrome de Gershoni-Baruch-Leibo Aplasia cutanea - miopia Aplasia cutis - miopía Aplasia cutis - myopia Aplasia cutis congenita - Myopie Aplasia cutânea - miopia Aplasie cutanée - myopie hrdo:pat_id_13980 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 607541 C535474 neant H18.5 98963 397568004 C1275685 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Avellino corneal dystrophy Avellino-Dystrophie Distrofia corneal de Avellino Distrofia corneal granular en empalizada Distrofia corneal granular tipo 2 Distrofia corneale di Avellino Distrofia corneale granulare, tipo 2 Distrofia corneale granulare-reticolare Dystrophie cornéenne combinée granulaire-réseau Dystrophie cornéenne d'Avellino GCD2 GCD2 GCD2 GCD2 GCD2 GCDII GCDII GCDII GCDII GCDII Granular corneal dystrophy type 2 Granular-lattice corneal dystrophy Hornhautdystrophie Typ Avellino Hornhautdystrophie, granulär-gittrige Distrofia corneal granular tipo II Distrofia corneale granulare, tipo II Distrofia corneana, tipo Avellino Dystrophie cornéenne granulaire de type II Granular corneal dystrophy type II Hornhautdystrophie, granuläre, Typ II hrdo:pat_id_13981 Variabel Variabile Variable Variable Variable Variable Variável 122200 608471 neant H18.5 98964 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Biber-Haab-Dimmer dystrophy Biber-Haab-Dimmer-Dystrophie Classic lattice corneal dystrophy Distrofia corneal reticular clásica Distrofia corneal reticular tipo 1 Distrofia corneale reticolare classica Distrofia corneale reticolare, tipo 1 Distrofia de Biber-Haab-Dimmer Distrofia di Biber-Haab-Dimmer Dystrophie cornéenne grillagée classique Dystrophie cornéenne grillagée type 1 Dystrophie de Biber-Haab-Dimmer Klassische gittrige Hornhautdystrophie LCD Typ 1 LCD1 LCD1 LCD1 LCD1 LCD1 LCDI LCDI LCDI LCDI Lattice corneal dystrophy type 1 Distrofia corneal reticular tipo I Distrofia corneale reticolare, tipo I Distrofia corneana, reticular, tipo I Dystrophie cornéenne grillagée type I Hornhautdystrophie, gittrige, Typ 1 Lattice corneal dystrophy type I hrdo:pat_id_13984 Variabel Variabile Variable Variable Variable Variable Variável 121800 neant H18.5 98967 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Crystalline stromal dystrophy Dystrophie cornéenne cristalline de Schnyder Dystrophie cristalline de Schnyder sans cristaux Dystrophie stromale cristalline Dystrophie stromale cristalline héréditaire de Schnyder Hereditary crystalline stromal dystrophy of Schnyder Kristalline stromale Dystrophie SCCD SCCD SCD SCD Schnyder crystalline corneal dystrophy Schnyder crystalline dystrophy sine crystals Schnyder’sche kristalline Hornhautdystrophie Distrofia corneal cristalina de Schnyder Distrofia corneale cristallina di Schnyder Distrofia corneana cristalina, tipo Schnyder Dystrophie cornéenne de Schnyder Schnyder corneal dystrophy Schnyder-Hornhautdystrophie hrdo:pat_id_13985 neant H18.5 98968 disease Central discoid corneal dystrophy Distrofia corneal, central discoide Distrofia corneale discoide centrale Distrofia corneana, discoide central Dystrophie cornéenne discoïde centrale Hornhautdystrophie, diskoide zentrale hrdo:pat_id_13986 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 217800 10025406 neant H18.5 98969 60258001 C0024439 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Corneal dystrophy Groenouw type II Distrofia corneal de Fehr Distrofia corneal de Groenouw tipo II Distrofia corneale di Fehr Distrofia corneale di Groenouw, tipo II Dystrophie cornéenne de Fehr Dystrophie cornéenne de Groenouw type II Fehr corneal dystrophy Fehr-fleckige Hornhautdystrophie Groenouw-Hornhautdystrophie Typ II MCD MCD MCD MCD MCD Distrofia corneal macular Distrofia corneale maculare Distrofia corneana, tipo macular Dystrophie cornéenne maculaire Hornhautdystrophie, makuläre Macular corneal dystrophy hrdo:pat_id_13987 Variabel Variabile Variable Variable Variable Variable Variável 121850 neant H18.5 98970 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Distrofia corneal moteada de François-Neetens Distrofia corneale a macchie di François-Neetens Distrofia moteada de la córnea Dystrophie cornéenne mouchetée de François-Neetenss FCD FCD FCD FCD FCD François-Neetens fleckige Hornhautdystrophie François-Neetens speckled corneal dystrophy Distrofia corneal moteada Distrofia corneale a macchie Distrofia corneana mosqueada, tipo Francois-Neetens Dystrophie cornéenne mouchetée Fleck corneal dystrophy Fleckchen-Hornhautdystrophie hrdo:pat_id_13988 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 612868 neant H18.5 98971 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Distrofia stromale amorfa posteriore Dystrophie stromale amorphe postérieure PACD PACD PACD PACD Posterior amorphous stromal dystrophy Posteriore amorphe Stromadystrophie Distrofia corneal posterior amorfa Distrofia corneale amorfa posteriore Distrofia corneana, posterior amorfa Dystrophie cornéenne amorphe postérieure Hornhautdystrophie, amorphe posteriore Posterior amorphous corneal dystrophy hrdo:pat_id_13989 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 217600 neant H18.5 98972 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CCDF CCDF CCDF CCDF Central cloudy corneal dystrophy of Francois Distrofia corneale torbida centrale di François Dystrophie cornéenne nuageuse centrale de François Central cloudy dystrophy of Francois Distrofia corneana, nublada central, tipo Francois Distrofia nebulosa central de François Distrofia torbida centrale di François Dystrophie nuageuse centrale de François Zentral-wolkenförmige Dystrophie (François) hrdo:pat_id_1399 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 113310 C537930 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(fibula%2Fab+OR+fibular)+(hypoplas*+OR+aplas*+OR+absen*+OR+agenesis)+(ectrodactyly+OR+split+hand+OR+split+foot+OR+brachydactyl*) Q73.8 1118 C1862100 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Aplasia de peroné - ectrodactilia Aplasia del perone - ectrodattilia Aplasia do perónio - ectrodactilia Aplasie du péroné - ectrodactylie Fibula-Aplasie - Ektrodaktylie Fibular aplasia - ectrodactyly hrdo:pat_id_13990 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 122000 609140 609141 neant H18.5 98973 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Distrofia di Schlichting Distrofia polimorfa posteriore Dystrophie de Schlichting Dystrophie postérieure polymorphe Hornhautdystrophie, hintere polymorphe PPCD PPCD PPCD PPCD Posterior polymorphous dystrophy Schlichting dystrophy Schlichting-Dystrophie Distrofia corneal polimorfa posterior Distrofia corneale polimorfa posteriore Distrofia corneana, polimorfa posterior Dystrophie cornéenne postérieure polymorphe Hornhautdystrophie, polymorphe posteriore Posterior polymorphous corneal dystrophy hrdo:pat_id_13991 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 136800 610158 613267 613268 613269 613270 613271 neant H18.5 98974 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Distrofia corneal endoepitelial Distrofia corneale endoepiteliale Distrofia endotelial hereditaria tardía Distrofia endoteliale ereditaria tardiva Dystrophie cornéenne endoépithèliale Dystrophie endothèliale héréditaire tardive Endoepithelial corneal dystrophy FECD FECD FECD FECD FECD Hornhautdystrophie, endo-epitheliale Late hereditary endothelial dystrophy Distrofia corneal endotelial de Fuchs Distrofia corneale endoteliale di Fuchs Distrofia corneana, endotelial de Fuchs Dystrophie cornéenne endothéliale de Fuchs Fuchs endothelial corneal dystrophy Fuchs-endotheliale Hornhautdystrophies hrdo:pat_id_13992 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 121700 neant H18.5 98975 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Autosomal dominant CHED Autosomal dominant congenital hereditary endothelial dystrophy CHED autosomica dominante CHED autosomique dominante CHED autosómica dominante CHED1 CHED1 CHED1 CHED1 CHED1 CHEDI CHEDI CHEDI CHEDI CHEDI Congenital hereditary endothelial dystrophy 1 Distrofia endotelial hereditaria congénita 1 Distrofia endotelial hereditaria congénita autosómica dominante Distrofia endoteliale ereditaria congenita 1 Distrofia endoteliale ereditaria congenita autosomica dominante Dystrophie endothéliale congénitale héréditaire 1 Dystrophie endothéliale congénitale héréditaire autosomique dominante Endotheldystrophie, hereditäre kongenitale I Congenital hereditary endothelial dystrophy I Distrofia endotelial congénita, hereditária Distrofia endotelial hereditaria congénita I Distrofia endoteliale ereditaria congenita I Dystrophie endothéliale congénitale héréditaire I Endotheldystrophie, hereditäre kongenitale 1 hrdo:pat_id_13993 231300 600975 613085 613086 neant Q15.0 98976 clinical subtype Congenital glaucoma Glaucoma congenito Glaucoma congénito Glaucoma congénito Glaucome congénital Glaukom, kongenitales hrdo:pat_id_13994 137750 608695 608696 610535 611274 neant 98977 clinical subtype Glaucome pré-sénile Glaucoma giovanile Glaucoma juvenil Glaucoma juvenil Glaucome juvénile Glaukom, juveniles Juvenile glaucoma hrdo:pat_id_13995 601631 602482 10058653 neant Q13.8 98978 204152008 C0266548 morphological anomaly Anomalia de Axenfeld Anomalia di Axenfeld Anomalie d'Axenfeld Anomalía de Axenfeld Axenfeld's anomaly Axenfeld-Anomalie hrdo:pat_id_13996 10057487 neant H21.1 98979 392481002 C0544008 clinical subtype Chandler syndrome Chandler-Syndrom Sindrome di Chandler Syndrome de Chandler Síndrome de Chandler Síndrome de Chandler hrdo:pat_id_13997 10059200 neant H21.1 98980 404633004 C1168173 clinical subtype Cogan-Reese syndrome Cogan-Reese-Syndrom Sindrome di Cogan-Reese Syndrome de Cogan-Reese Síndrome de Cogan-Reese Síndrome de Cogan-Reese hrdo:pat_id_13998 neant H21.2 98981 clinical subtype Atrofia da íris, essencial Atrofia esencial de iris Atrofia essenziale dell'iride Atrophie essentielle de l'iris Essential iris atrophy Irisatrophie, essentielle hrdo:pat_id_14 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 232300 D006009 10053185 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=glycogen+storage+disease+type+ii%5Bmh%5D+OR+Glycogen+Storage+Disease+Type+II%5Btw%5D+OR+Glycogen+Storage+Disease+Type+IIa%5Btw%5D E74.0 365 124454007 124462004 237967002 237968007 C0017921 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Alfa-1,4-glucosidase ácida, deficiência de Alpha-1,4-Glukosidase-Mangel Alpha-1,4-glucosidase acid deficiency Deficit di alfa-1,4-glucosidasi acida Deficiência de alfa-1,4-glucosidase ácida Deficiência de maltase ácida Doença de Pompe Doença no armazenamento de glicogénio, tipo 2 Déficit de alfa-1,4-glucosidasa ácida Déficit en alpha-1,4-glucosidase acide Enfermedad de Pompe Enfermedad de almacenamiento de glucógeno tipo 2 GSD da deficit di maltasi acida GSD due to acid maltase deficiency GSD por déficit de maltasa ácida GSD tipo 2 GSD type 2 GSD, tipo 2 Glicogenosi, tipo 2 Glicogénio, doença no armazenamento de, tipo 2 Glucogenosis por déficit de maltasa ácida Glucogenosis tipo 2 Glycogen storage disease type 2 Glycogenosis due to acid maltase deficiency Glycogénose type 2 Glykogen-Speicherkrankheit Typ 2 Maladie de Pompe Malattia da deposito di glicogeno, tipo 2 Malattia di Pompe Maltase ácida, deficiência de Pompe disease Pompe, doença de Pompe-Krankheit Saure Maltase-Mangel Type 2 glycogenosis Enfermedad de almacenamiento de glucógeno por déficit de maltasa ácida Glicogenose tipo 2 Glycogen storage disease due to acid maltase deficiency Glycogénose par déficit en maltase acide Glykogenose Typ 2 Malattia da deposito di glicogeno da deficit di maltasi acida hrdo:pat_id_1400 601612 neant Q87.8 1120 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Mardini--Nyhan syndrome Mardini-Nyhan-Syndrom Sindrome di Mardini-Nyhan Syndrome de Mardini-Nyhan Síndrome de Mardini-Nyhan Agenesia polmonare - cardiopatia - difetti del pollice Agenesia pulmonar - cardiopatia - anomalias dos polegares Agenesia pulmonar - defecto cardíaco - anomalías del pulgar Agénésie pulmonaire - anomalie cardiaque - pouce triphalangé Lung agenesis - heart defect - thumb anomalies Lungenagenesie - Herzfehler - Daumenanomalien hrdo:pat_id_14000 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 115665 C538285 neant Q12.0 98983 C1861833 clinical subtype Cataracte congénitale de Volkmann Catarata congénita, tipo Volkmann Catarata, congénita, tipo Volkmann Cataratta congenita, tipo Volkmann Congenital cataract, Volkmann type Katarakt, kongenitale, Typ Volkmann hrdo:pat_id_14001 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 116200 601885 604307 605749 610202 neant Q12.0 98984 clinical subtype Cataracte pulvérulente Catarata pulverulenta Catarata pulverulenta Cataratta pulverulenta Katarakt, pulverförmige Pulverulent cataract hrdo:pat_id_14002 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 600881 601547 605728 neant Q12.0 98985 clinical subtype Cataract with Y-shaped suture opacities Cataracte de la suture en ''Y'' Catarata das suturas com opacidades em forma de Y Catarata de las suturas con opacidades en forma de Y Cataratta con opacità lungo le suture a Y Katarakt mit Y-nahtförmigen Trübungen hrdo:pat_id_14003 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 115700 601547 604307 neant Q12.0 98986 clinical subtype Cataract, Coppock-like Cataracte Coppock-like Catarata, Coppock-like Catarata, Coppock-like Cataratta Coppock-simile Coppock-ähnliche Katarakt hrdo:pat_id_14004 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 212500 C538286 neant Q12.0 98987 C2931791 clinical subtype Cataract, Hutterite type Cataracte type Hutterite Catarata tipo Hutterite Catarata, tipo Huterita Cataratta, tipo Hutterita Katarakt vom Hutteriten-Typ hrdo:pat_id_14005 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 115650 601202 615188 C538282 neant Q12.0 98988 C1855179 clinical subtype Anterior subcapsular cataract Cataracte subcapsulaire antérieure Catarata subcapsular anterior Cataratta subcapsulare anteriore Katarakt, anteriore subkapsuläre Anterior polar cataract Cataracte polaire antérieure Catarata polar anterior Catarata polar anterior Cataratta polare anteriore Katarakt, anteriore polare hrdo:pat_id_14006 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 115660 115700 601547 610202 614422 C537955 neant Q12.0 98989 clinical subtype Cataracte céruléenne Catarata cerúlea Catarata cerúlea Cataratta cerulea Cerulean cataract Katarakt, zölinblaue hrdo:pat_id_14007 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 115700 115800 neant Q12.0 98990 clinical subtype Cataracte coralliforme Catarata coraliforme Catarata coraliforme Cataratta coralliforme Coralliform cataract Katarakt, koralliforme hrdo:pat_id_14008 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 115700 116400 601371 601547 604219 607304 609376 609741 610019 611544 10007759 10057735 neant Q12.0 98991 53889007 C0392557 C1112705 clinical subtype Cataracte nucléaire Catarata nuclear Catarata nucleare Cataratta nucleare Katarakt, nukleäre Nuclear cataract hrdo:pat_id_14009 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 611597 neant Q12.0 98992 clinical subtype Cataracte congénitale partielle Catarata, congénita parcial Catarata, congénita, parcial Cataratta parziale congenita Katarakt, kongenitale partielle Partial congenital cataract hrdo:pat_id_1401 neant Q73.8 1121 malformation syndrome Radiusdefekt mit Tibiahypoplasie Anomalia radial - hipoplasia tibial Aplasia radial aplasia tibial Aplasia radiale aplasia tibiale Aplasie radiale - aplasie tibiale Radial deficiency - tibial hypoplasia Radiusaplasie - Tibiaaplasie hrdo:pat_id_14010 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 116600 605387 610623 610634 612968 613763 neant Q12.0 98993 clinical subtype Cataracte subcapsulaire postérieure Catarata subcapsular posterior Cataratta subcapsulare posteriore Katarakt, posteriore subkapsuläre Posterior subcapsular cataract Cataracte polaire postérieure Catarata polar anterior Catarata polar posterior Cataratta polare posteriore Katarakt, posteriore polare Posterior polar cataract hrdo:pat_id_14011 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 116100 116600 116700 302200 601547 615188 C535341 neant Q12.0 98994 29590001 C0266539 clinical subtype Cataracte congénitale totale Catarata, congénita total Catarata, congénita, total Cataratta totale congenita Katarakt, kongenitale totale Total congenital cataract hrdo:pat_id_14012 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 115700 116800 600881 604219 604307 610425 613763 615188 C535342 neant Q12.0 98995 clinical subtype Cataracte lamellaire Cataratta lamellare Katarakt, lamelläre Lamellar cataract Cataracte zonulaire Catarata zonular Catarata, zonular Cataratta zonulare Katarakt, zonuläre Zonular cataract hrdo:pat_id_14017 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 608161 neant H35.5 99000 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Adult-onset foveomacular vitelliform dystrophy Distrofia foveomacular viteliforme, de aparición en edad adulta Distrofia foveomacular viteliforme, do adulto Distrofia vitelliforme foveomaculare a esordio adulto Dystrophie fovéo-maculaire vitelliforme de l'adulte Dystrophie, adulte foveomakuläre vitelliforme hrdo:pat_id_14018 169150 608970 neant H35.5 99001 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Butterfly-shaped pigment dystrophy Distrofia pigmentada en forma de mariposa Distrofia pigmentar em forma de borboleta Distrofia pigmentosa a ''farfalla'' Dystrophie maculaire en ailes de papillon Musterdystrophie, schmetterlingsförmige hrdo:pat_id_14019 179840 267800 neant H35.5 99002 disease Distrofia reticolare dell'epitelio pigmentato retinico Distrofia reticular del epitelio pigmentado de la retina Distrofia reticular do epitélio pigmentar da retina Dystrophie réticulée de l'épithélium pigmentaire rétinien Netzhautdystrophie des retinalen Pigmentepithels Reticular dystrophy of the retinal pigment epithelium hrdo:pat_id_1402 314360 C536936 neant Q73.8 1122 C1839123 malformation syndrome Syndrome de Van den Berghe-Dequeker Síndrome de Van de Berghe-Dequeker Van de Berghe-Dequeker-Syndrom Van de berghe-Dequeker syndrome Aplasie cubitale - pied fendu Hipoplasia cubital - ectrodactilia dos pés Hipoplasia ulnar - pies con deformación en forma de pinza de langosta Ipoplasia ulnare - piedi a ''chela di aragosta'' Ulna-Hypoplasie - Krebsscheren-Defektfehlbildung der Füße Ulnar hypoplasia - lobster-claw deformity of feet hrdo:pat_id_14020 neant H35.5 99003 disease Distrofia de padrão multifocal simulando fundus flavimaculatus Distrofia en patrón multifocal simulando el Fundus Flavimaculatus Distrofia multifocale simulante il fundus flavimaculato Dystrophie tachetée simulant le fundus flavimaculatus Multifocal pattern dystrophy simulating fundus flavimaculatus Musterdystrophien, multifokale (vorgetäuschter Fundus flavimaculatus) hrdo:pat_id_14021 neant H35.5 99004 disease Fundus pulverulento Fundus pulverulentus Fundus pulverulentus Fundus pulverulentus Fundus pulverulentus Fundus pulverulentus hrdo:pat_id_14029 258500 neant H47.2 99012 disease Atrofia ottica congenita o precoce dell'infanzia Atrofia ottica isolata, autosomica recessiva Atrophie optique congénitale ou infantile précoce Congenital or early infantile optic atrophy OPA6 Optikusatrophie, autosomal-rezessive, isolierte Optikusatrophie, kongenitale oder früh-infantile Atrofia ottica, autosomica recessiva, tipo OPA6 Atrofia óptica idiopática autosómica recesiva Atrofia ótica, autossómica recessiva Atrophie optique autosomique récessive type OPA6 Autosomal recessive optic atrophy, OPA6 type Optikusatrophie, autosomal-rezessive, Typ 6 hrdo:pat_id_14030 Variabel Variabile Variable Variable Variable Variable Variável 600146 607259 neant G11.4 99013 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 SPG7 SPG7 SPG7 SPG7 SPG7 Autosomal recessive spastic paraplegia type 7 Paraparésia espástica 7 Paraplegia spastica, autosomica recessiva, tipo 7 Paraplejía espástica autosómica recesiva tipo 7 Paraplégie spastique autosomique récessive type 7 Spastische Paraplegie, autosomal-rezessive, Typ 7 hrdo:pat_id_14031 311070 neant G60.0 99014 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease CMT5X CMT5X CMT5X CMT5X CMTX5 CMTX5 Charcot-Marie-Tooth-Krankheit, X-chromosomale, Typ 5 Doença de Charcot-Marie-Tooth ligada ao X, tipo 5 Enfermedad de Charcot-Marie-Tooth ligada al X, tipo 5 Maladie de Charcot-Marie-Tooth liée à l'X type 5 Malattia di Charcot-Marie-Tooth legata all'X, tipo 5 X-linked Charcot-Marie-Tooth disease type 5 hrdo:pat_id_14032 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 312920 C536857 neant G11.4 99015 C1839264 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deambulazione spastica, tipo 2 Démarche spastique type 2 Marcha espástica tipo 2 Paraparesi spastica, tipo 2 Paraparesia espástica tipo 2 Paraparésie spastique type 2 Paraplegia spastica legata all'X, tipo 2 Paraplejía espástica ligada al X tipo 2 Paraplégie spastique liée à l'X type 2 SPG2 SPG2 SPG2 SPG2 SPG2 Spastic gait type 2 Spastic paraparesis type 2 Spastische Paraparese Typ 2 Spastische Paraplegie, X-chromosomale, Typ 2 X-linked spastic paraplegia type 2 Paraparésia espástica 2 Paraplegia spastica, tipo 2 Paraplejía espástica tipo 2 Paraplégie spastique type 2 Spastic paraplegia type 2 Spastische Paraplegie Typ 2 hrdo:pat_id_14039 607616 neant E75.2 99022 73399005 C0268248 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Doença de Niemann-pick tipo E Enfermedad de Niemann-Pick tipo E Maladie de Niemann-Pick type E Malattia di Niemann-Pick, tipo E Niemann-Pick disease type E Niemann-Pick-Krankheit Typ E hrdo:pat_id_1404 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 257550 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28congenital+ocular+motor+apraxia+OR+oculomotor+apraxia%29+AND+cogan H51.8 1125 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Aprassia oculomotoria, tipo Cogan Apraxia ocular motora, tipo Cogan Apraxia ocular tipo Cogan Apraxie oculo-motrice type Cogan Apraxie, okulomotorische, Typ Cogan Ocular motor apraxia, Cogan type hrdo:pat_id_14044 169500 neant E75.2 99027 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Adult-onset autosomal dominant leukodystrophy Doença de Pelizaeus-Merzbacher, autossómica dominante, ou de início tardio Leucodistrofia autosomica dominante a esordio nell'età adulta Leucodistrofia autosómica dominante de aparición en adultos Leukodystrophie autosomique dominante de l'adulte Leukodystrophie, autosomal-dominante, im Erwachsenenalter beginnend hrdo:pat_id_1405 601374 neant Q04.3 1126 malformation syndrome Aprosencefalia - disgenesia cerebelar Aprosencefalia - disgenesia cerebellare Aprosencefalia disgenesia cerebelosa Aprosencephaly cerebellar dysgenesis Aprosencéphalie - dysgénésie cérébelleuse Prosenzephalie - zerebelläre Dysgenesie hrdo:pat_id_14059 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q20.3 99042 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Congenitally uncorrected transposition of the great vessels with coarctation Kongenitale unkorrigierte Transposition der großen Gefäße mit Koarktation TGA con coartación TGA con coartazione TGA mit Koarktation TGA with coarctation TGV avec coarctation Transposición no corregida congénitamente de los grandes vasos con coartación Transposition congénitalement non corrigée des grosses artères avec coarctation Trasposizione congenitamente non corretta dei grandi vasi con coartazione Congenitally uncorrected transposition of the great arteries with coarctation Kongenitale unkorrigierte Transposition der großen Arterien mit Koarktation Transposición no corregida congénitamente de las grandes arterias con coartación Transposition congénitalement non corrigée des gros vaisseaux avec coarctation Transposição de grandes vasos com coarctação Trasposizione congenitamente non corretta delle grandi arterie con coartazione hrdo:pat_id_14060 neant Q20.1 Q21.3 99043 malformation syndrome DORV type Fallot DORV, Fallot type DORV, Fallot-Typ DORV, tipo Fallot Double outlet right ventricle, Fallot type Dupla saída do ventrículo direito, tipo Fallot VDDS , tipo Fallot Ventricule droit à double issue type Fallot hrdo:pat_id_14061 neant Q20.1 99044 253298003 clinical subtype DORV con DIV subaortica DORV mit subaortalem VSD Double outlet right ventricle with subaortic ventricular septal defect Dupla saída do ventrículo direito com defeito do septo ventricular subaórtico VDDS con CIV subaórtico Ventricule droit à double issue avec communication interventriculaire sous aortique hrdo:pat_id_14062 neant Q20.1 99045 clinical subtype DORV con DIV subpolmonare DORV mit subpulmonalem VSD Double outlet right ventricle with subpulmonary ventricular septal defect Dupla saída do ventrículo direito com defeito do septo ventricular subpulmonar VDDS con CIV subpulmonar Ventricule droit à double issue avec communication interventriculaire sous pulmonaire hrdo:pat_id_14063 neant Q20.1 99046 clinical subtype DORV con difetto del setto ventricolare (DIV) subpolmonare "non committed" DORV mit non-committed subpulmonalem Ventrikelseptumdefekt (VSD) Double outlet right ventricle with non-committed subpulmonary ventricular septal defect Dupla saída do ventrículo direito com defeito septal ventricular sub-pulmonar não implicado VDDS con defecto del septo ventricular (CIV) subpulmonar no implicado Ventricule droit à double issue avec communication interventriculaire à distance des gros vaisseaux hrdo:pat_id_14064 neant Q20.1 99047 253300003 C0344644 clinical subtype DORV mit double-committed subpulmonalem Ventrikelseptumdefekt Double outlet right ventricle with doubly committed ventricular septal defect Dupla saída do ventrículo direito com defeito do septo ventricular duplamente implicado VDDS con defecto del septo ventricular (CIV) subpulmonar doblemente implicado Ventricolo destro a doppia uscita con comunicazione interventricolare sottoaortica o sottopolmonare Ventricule droit à double issue avec communication interventriculaire sous aortique et sous pulmonaire hrdo:pat_id_14065 neant Q22.2 99048 malformation syndrome APV/PDA, non Fallot-type AVP/CAP de type non-Fallot Absence of pulmonary valve - ventricular septal defect - persistent ductus arteriosus PVA/PDA, non Fallot-type Agenesia da válvula pulmonar - defeito do septo ventricular - canal arterial persistente (tipo não Fallot APV/PDA) Agénésie de la valve pulmonaire - défaut de septum ventriculaire - canal artériel persistant PAV - Ventrikelseptumdefekt - offener Ductus arteriosus (nicht Fallot-Typ APV/PDA) PAV - difetto del setto ventricolare - dotto arterioso pervio (tipo non Fallot APV/PDA) PAV-defecto del septo ventricular - ductus arteriosus persistente (no tipo Fallot-tipo APV/PDA) Pulmonary valve agenesis - ventricular septal defect - persistent ductus arteriosus hrdo:pat_id_14066 neant Q25.7 99049 morphological anomaly Arteria polmonare che nasce dal dotto arterioso pervio Arteria pulmonar procedente de ductus arteriosus patente Artère pulmonaire naissant du canal artériel Artéria pulmonar proveniente de canal arterial patente Pulmonalarterie, dem offenem Ductus arteriosus entstammend Pulmonary artery coming from patent ductus arteriosus hrdo:pat_id_14067 neant Q25.7 99050 morphological anomaly Arteria polmonare che nasce dall'aorta Arteria pulmonar procedente de la aorta Artère pulmonaire naissant de l'aorte Artéria pulmonar proveniente da aorta Pulmonalarterie, der Aorta entstammend Pulmonary artery coming from the aorta hrdo:pat_id_14068 271950 neant Q24.4 99051 clinical subtype Discrete fixed membranous subaortic stenosis Estenose subaórtica membranosa, fixa, discreta Estenosis subaórtica membranosa fija discreta Stenosi sottoaortica membranosa moderata Sténose subaortique membraneuse modérée Subaortenstenose, diskrete fixierte membranöse hrdo:pat_id_14069 neant Q24.4 99052 clinical subtype Discrete fibromuscular subaortic stenosis Estenose subaórtica fibromuscular, discreta Estenosis subaórtica fibromuscular discreta Stenosi sottoaortica fibromuscolare moderata Sténose subaortique fibromusculaire modérée Subaortenstenose, diskrete fibromuskuläre hrdo:pat_id_14070 neant Q24.4 99053 clinical subtype Estenose do túnel subaórtico Estenosis subaórtica en túnel Stenosi del tunnel subaortico Sténose subaortique en tunnel Subaortenstenose vom Tunneltyp Tunnel subaortic stenosis hrdo:pat_id_14071 D011666 10037450 neant Q22.1 99054 56786000 C0034089 clinical subtype Displasia da válvula pulmonar Displasia de la válvula pulmonar Displasia valvolare polmonare Dysplasie valvulaire pulmonaire Pulkmonalklappendysplasie Valvular pulmonary stenosis hrdo:pat_id_14072 neant Q22.8 99055 morphological anomaly Anomalia das cordas da válvula tricúspide Anomalia delle corde della valvola tricuspide Anomaly of the tricuspid valve chordae Anomalía de la cuerda de la válvula tricúspide Chordae tendineae der Trikuspidalklappe, Anomalien der- Insertion anormale des cordages de la tricuspide hrdo:pat_id_14073 neant Q22.8 99056 morphological anomaly Parachute tricuspid valve Parachute-Trikuspidalklappe Valve tricuspide en parachute Valvola tricuspide a ''paracadute'' Válvula tricúspide em paraquedas Válvula tricúspide parachute hrdo:pat_id_14074 neant Q23.2 99057 morphological anomaly Congenital mitral stenosis Estenose mitral, congénita Estenosis mitral congénita Mitralstenose, kongenitale Restringimento mitralico congenito Rétrécissement mitral congénital hrdo:pat_id_14075 neant Q23.2 99058 morphological anomaly Hipoplasia del annulus de la válvula mitral Hipoplasia do anel da válvula mitral Hypoplasia of the mitral valve annulus Hypoplasie de l'anneau mitral Ipoplasia dell'anello della valvola mitrale Mitralklappenanulus, Hypoplasie des- hrdo:pat_id_14076 neant Q23.2 99059 morphological anomaly Anel mitral supravalvular, congénito Anillo supravalvular mitral congénito Anneau supravalvulaire mitral Anomalia dell'apparato subvalvolare mitrale Congenital supravalvular mitral ring Mitralstenose, supravalvuläre hrdo:pat_id_14077 neant Q23.3 99060 morphological anomaly Anomalie de l'appareil sous-valvulaire mitral Congenital unguarded mitral orifice Hammock-Valve Orificio mitral desprotegido, congénito Orifizio mitrale pervio congenito Orifício mitral desprotegido, congénito hrdo:pat_id_14078 neant Q23.8 99061 morphological anomaly Accessory mitral valve tissue Mitralklappe mit akzessorischem Gewebe Tessuto accessorio della valvola mitrale Tissu valvulaire mitrale accessoire Válvula mitral, tecido acessório Válvula mitral, tejido adicional hrdo:pat_id_14079 neant Q23.3 99062 morphological anomaly Agenesia da válvula mitral Agenesia de la válvula mitral Agenesia della valvola mitrale Agénésie des valves mitrales Mitral valve agenesis Mitralklappenagenesie hrdo:pat_id_1408 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 301950 neant Q75.4 1131 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Disostosi mandibolofacciale legata all'X senza difetti degli arti Disostosi mandibolofacciale, tipo Toriello Disostosis mandibulofacial ligada al X con anomalías de las extremidades Disostosis mandibulofacial, tipo Toriello Dysostose mandibulo-faciale avec anomalies des extrémités liée à l'X Dysostose mandibulo-faciale, type Toriello Mandibulofacial dysostosis, Toriello type Sindrome dell'arco branchiale, legata all'X Syndrome de l'arc branchial lié à l' X Síndrome de arco branquial ligado al X X-linked branchial arch syndrome X-linked mandibulofacial dysostosis with limb anomalies Disostosi mandibolofacciale legata all'X Disostosis mandibulofacial ligada al X Dysostose mandibulo-faciale liée à l'X Dysostose, mandibulofaziale, X-chromosomale Síndrome arco branquial ligado ao X X-linked mandibulofacial dysostosis hrdo:pat_id_14080 10066802 neant Q23.8 99063 C1868705 malformation syndrome Complejo de Shone Complesso di Shone Complexe de Shone Shone complex Shone-Komplex Síndrome de Shone hrdo:pat_id_14081 neant Q23.8 99064 clinical subtype Mitralklappe, gespreizte und/oder reitende Straddling and/or overriding mitral valve Straddling et/ou overriding de la valve mitrale Valvola mitrale divaricata Válvula mitral, acabalgada Válvula mitral, straddling e/ou overriding hrdo:pat_id_14083 neant Q21.2 99066 clinical subtype CAVC - anomalies obstructives du coeur gauche CAVC - left heart obstruction CAVC type A CAVC type A Canal atrioventriculaire complet type A Complete atrioventricular canal type A CAVC - Linksherzobstruktion CAVC - obstrucción de la parte izquierda del corazón CAVC - ostruzione della parte sinistra del cuore Canal atrioventriculaire complet - anomalies obstructives du coeur gauche Canal auriculoventricular, completo - obstrução do coração esquerdo Complete atrioventricular canal - left heart obstruction hrdo:pat_id_14084 neant Q21.2 99067 clinical subtype CAVC - hypoplasie ventriculaire CAVC - ventricle hypoplasia CAVC type B CAVC type B Canal atrioventriculaire complet type B Complete atrioventricular canal type B CAVC - Ventrikelhypoplasie CAVC - hipoplasia ventricular CAVC - ipoplasia ventricolare Canal atrioventriculaire complet - hypoplasie ventriculaire Canal auriculoventricular completo - hipoplasia ventricular Complete atrioventricular canal - ventricle hypoplasia hrdo:pat_id_14085 neant Q21.2 99068 clinical subtype CAVC - Fallot tetralogy CAVC - tétralogie de Fallot CAVC type C CAVC type C Canal atrioventriculaire complet type C Complete atrioventricular canal type C CAVC - Fallot-Tetralogie CAVC - tetralogia di Fallot CAVC - tetralogía de Fallot Canal atrioventriculaire complet - tétralogie de Fallot Canal auriculoventricular, completo - tetralogia de Fallot Complete atrioventricular canal - Fallot tetralogy hrdo:pat_id_14086 neant Q20.4 99069 clinical subtype Coeur univentriculaire avec une seul valve auriculoventriculaire Corazón univentricular con una sola válvula ventricular Coração univentricular com válvula auriculoventricular única Cuore monoventricolare con valvola atrio-ventricolare singola Herz, univentrikuläres, mit singulärer atrio-ventrikulärer Klappe Univentricular heart with single atrio-ventricular valve hrdo:pat_id_14087 neant Q20.8 99070 253650001 C0345055 morphological anomaly Aorto-rechtsventrikulärer Tunnel Aorto-right ventricular tunnel Tunel aorto-ventricular derecho Tunel ventricular aorto-direito Tunnel aorta-ventricolo destro Tunnel aorto-ventriculaire droit hrdo:pat_id_14088 neant Q20.8 99071 26201005 C0345054 morphological anomaly Aorto-left ventricular tunnel Aorto-linksventrikulärer Tunnel Tunel aorto-ventricular izquierdo Tunel ventricular aorto-esquerdo Tunnel aorta-ventricolo sinistro Tunnel aorto-ventriculaire gauche hrdo:pat_id_14089 neant Q25.8 99072 morphological anomaly Aneurisma congenito del dotto arterioso pervio Aneurisma do canal arterial patente, congénito Aneurisma ductus arteriosus patente congénito Aneurysma des persistierenden Ducuts arteriosus, kongenitales Anévrysme du canal artériel Congenital patent ductus arteriosus aneurysm hrdo:pat_id_1409 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 207780 C537427 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28ACRORENAL+FIELD+DEFECT+ECTODERMAL+DYSPLASIA+LIPOATROPHIC+DIABETES%29+OR+AREDYLD Q87.8 1133 C0342280 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acrorenal defect - ectodermal dysplasia - diabetes Akrorenale Anomalien mit ektodermaler Dysplasie und Diabetes Anomalia acrorenale - displasia ectodermica - diabete Anomalie acrorénale - dysplasie ectodermique - diabète Anomalía acrorenal - displasia ectodérmica - diabetes AREDYLD syndrome AREDYLD-Syndrom Sindrome AREDYLD Syndrome AREDYLD Síndrome AREDYLD Síndrome de Aredyld hrdo:pat_id_14092 neant Q25.4 99075 morphological anomaly Aorte encerclante Aortenbogen, doppelter, mit zirkuläre Einengung von Trachea/Ösophagus Arco aortico doppio circolare Arco aórtico doble, rodea la pulmonar Arco aórtico duplo Encircling double aortic arch hrdo:pat_id_14093 neant Q25.4 99076 253658008 C0345066 morphological anomaly Aortenbogen, fünfter persistierender Arco aórtico quinto persistente Persistance du 5ème arc aortique Persistent fifth aortic arch Quinto arco aortico persistente Quinto arco aórtico persistente hrdo:pat_id_14094 neant Q25.4 99077 74561007 C0265885 morphological anomaly Diverticolo di Kommerell Diverticule de Kommerel Divertículo de Kommerell Divertículo de Kommerell Kommerell diverticulum Kommerell-Divertikel hrdo:pat_id_14095 neant Q25.4 99078 morphological anomaly Anomalia de Neuhauser Anomalia di Neuhauser Anomalie de Neuhauser Anomalía de Neuhauser Neuhauser's anomaly Neuhauser-Anomalie hrdo:pat_id_14096 neant Q25.4 99079 253657003 C0345065 morphological anomaly Aorte cervicale Aortenbogen, zervikaler Arco aortico cervicale Arco aórtico cervical Arco aórtico cervical Cervical aorta arch hrdo:pat_id_14098 10067407 neant Q25.4 99081 111321007 244229003 C0035615 morphological anomaly Aortenbogen, rechter Arc aortique droit Arco aortico destro Arco aórtico derecho Arco aórtico direito Right aortic arch hrdo:pat_id_14099 neant Q25.4 99082 231719009 C0267073 morphological anomaly Disfagia lusoria Disfagia lusoria Disfagia lusoria Dysphagia lusoria Dysphagia lusoria Dysphagia lusoria hrdo:pat_id_1410 1137 disease Kashani-Strom-Utley syndrome Kashani-Strom-Utley-Syndrom Sindrome di Kashani-Strom-Utley Syndrome de Kashani-Strom-Utley Síndrome de Kashani-Strom-Utley Arteria polmonare - aorta ipoplasica - uropatia ostruttiva Arteria pulmonar y aorta hipoplásica - uropatía obstructiva Artère pulmonaire et aorte hypoplasiques - uropathie obstructive Artérias aorta e pulmonar hipoplásicas - uropatia obstrutiva Pulmonalarterien- und Aortenstenose mit obstruktiver Uropathie Pulmonary aortic stenosis obstructive uropathy hrdo:pat_id_14100 neant Q25.7 99083 morphological anomaly Hipoplasia arterial pulmonar Hipoplasia da artéria pulmonar Hypoplasie des artères pulmonaires Ipoplasia arteriosa polmonare Pulmonalarterienhypoplasie Pulmonary artery hypoplasia hrdo:pat_id_14101 neant Q25.6 99084 morphological anomaly Estenose dos ramos pulmonares Estenosis de las arterias pulmonares Pulmonalarterienstenose Pulmonary branch stenosis Stenosi delle diramazioni della polmonare Sténoses des branches pulmonaires hrdo:pat_id_14102 neant Q24.5 99085 morphological anomaly Coronaire intramyocardique Coronary artery intramyocardial course Coronária intramiocárdica Koronararterien, aberranter Verlauf, intramyokardial Percorso arterioso coronarico intramiocardiaco Trayecto de las arterias coronarias, intramiocárdico hrdo:pat_id_14103 neant Q24.5 99086 morphological anomaly Aorto-pulmonary coronary arterial course Coronaire inter-aortopulmonaire Coronária aorto-pulmonar Koronararterien, aberranter Verlauf, aortopulmonal Percorso arterioso coronarico aorto-polmonare Trayecto de las arterias coronarias, aorto-pulmonar hrdo:pat_id_14104 neant Q24.5 99087 morphological anomaly Estenosis o atrofia del ostium coronario Koronarostiumstenose oder -atrophie Stenosi o atrofia dell'ostium coronarico Stenosis or atrophy of the coronary ostium Sténose ou atrophie des ostia coronaires Óstio coronário, estenose ou atrofia hrdo:pat_id_14105 neant Q24.5 99088 253715000 C0345123 morphological anomaly Coronaire intramurale Coronária, intramural Intramural coronary arterial course Koronararterien, aberranter Verlauf, intramural Percorso arterioso coronarico intramurale Trayecto de las arterias coronarias, intramural hrdo:pat_id_14106 neant Q24.5 99089 morphological anomaly Abnormal number of coronary ostia Anomalie de nombre des ostia coronaires Koronarostium, abnormale Anzahl Numero anomalo di ostii coronarici Número anormal del ostium coronario Óstio coronário, anomalia de número hrdo:pat_id_14107 neant Q24.5 99090 morphological anomaly Anomalie de position des ostia coronaires Koronarostium, Fehllage des Mala posición del ostium coronario Malposition of the coronary ostium Posizione anomala dell'ostio coronarico Óstio coronário mal posicionado hrdo:pat_id_14109 105805 neant Q21.0 99092 morphological anomaly Aneurisma del septo interventricular Aneurisma del setto interventricolare Aneurisma do septo intraventricular Anévrysme du septum interauriculaire Interventricular septum aneurysm Septumaneurysma, interatriales hrdo:pat_id_1411 C537442 1139 C2931495 disease Arthogrypose - épilepsie - migration neuronale anormale Arthrogrypose mit epileptischen Anfällen aufgrund neuronaler Migrationsstörungen Arthrogryposis - epileptic seizures - migrational brain disorder Artrogripose - epilepsia - defeito da migração neuronal Artrogriposi - epilessia - anomalie della migrazione neuronale Artrogriposis - epilepsia - trastorno de la migración neuronal hrdo:pat_id_14111 neant Q21.0 99094 morphological anomaly CIV avec insuffisance aortique Communication interventriculaire avec insuffisance aortique VSD with aortic insufficiency Ventricular septal defect with aortic insufficiency Laubry-Pezzi syndrome Laubry-pezzi-Syndrom Sindrome di Laubry-Pezzi Syndrome de Laubry-Pezzi Síndrome de Laubry-Pezzi Síndrome de Laubry-Pezzi hrdo:pat_id_14112 neant Q21.0 99095 morphological anomaly Communication entre le ventricule gauche et l'oreillette droite Left ventricular-to-right atrial communication Anomalie de Gerbode Defecto de Gerbode Defeito de Gerbode Difetto di Gerbode Gerbode defect VSD mit LV-RA-Shunt (GERBODE-Defekt) hrdo:pat_id_14113 neant Q21.0 99096 253550006 C0344923 morphological anomaly CIV múltiple Communications interventriculaires multiples DIV multipli Defeitos ventriculares septais múltiplos Multiple ventricular septal defects VSD, multiple hrdo:pat_id_14114 neant Q21.0 99097 morphological anomaly CIV simple Communication interventriculaire unique DIV isolato Defeito único do septo ventricular Single ventricular septal defect VSD, einfacher hrdo:pat_id_14115 neant Q24.2 99098 morphological anomaly Cor triatriatum dextrum Cor triatriatum destro Cor triatriatum destro Cor triatriatum dexter Cor triatriatum dexter Cor triatriatum dexter Cor triatriatum droit hrdo:pat_id_14116 neant Q24.2 99099 morphological anomaly Cor triatriatum sinistrum Cor triatriatum sinistrum Cor triatriatum sinistrum Cor triatriatum Cor triatriatum gauche Cor triatriatum sinister Cor triatriatum sinister Cor triatriatum sinister Cuore triatriato sinistro hrdo:pat_id_14117 neant Q20.8 99100 morphological anomaly Juxtaposition of the atrial auricles Giustapposizione delle appendici atriali Herzvorhöfe, juxtaposition der Justaposição das aurículas Juxtaposition des auricules Juxtaposition of the atrial appendages Yuxtaposición de las aurículas hrdo:pat_id_14118 neant Q20.8 99101 morphological anomaly Dilataion de l'auricule droite Dilatation of the right atrial appendage Dilatation of the right atrial auricle Ectasia of the right atrial auricle Ectasia da aurícula direita Ectasia de la aurícula derecha Ectasia del padiglione destro Ectasia of the right atrial appendage Ectasie de l'auricule droite Herzvorhof, rechter, Ektasie des- hrdo:pat_id_14119 neant Q20.8 99102 morphological anomaly Dilatation de l'auricule gauche Dilatation of the left appendage Dilatation of the left auricle Ectasia of the left auricle Ectasia da aurícula esquerda Ectasia de la aurícula izquierda Ectasia del padiglione sinistro Ectasia of the left appendage Ectasie de l'auricule gauche Herzvorhof, linker, Ektasie des- hrdo:pat_id_14120 108800 607941 611363 612794 613087 614089 614433 614475 10031302 10031303 neant Q21.1 99103 204315000 204318003 C0344724 clinical subtype ASD type ostium secundum ASD, ostium secundum type CIA type ostium secundum ASD, Ostium secundum Typ Anomalie du septum atrial type ostium secundum Atrial septal defect, ostium secundum type CIA, tipo ostium secundum Defeito do septo aurocular, tipo ostium secundum Difetto del setto atriale, tipo ostium secundum hrdo:pat_id_14121 neant Q21.1 99104 clinical subtype ASD type sinus coronaire ASD, coronary sinus type CIA type sinus coronaire Communication interauriculaire avec fenestration du toit du sinus coronaire Unroofed coronary sinus Atrial septal defect, coronary sinus type Communication interauriculaire type sinus coronaire Fistola coronarica, tipo DIA Koronarsinus-ASD Seio coronário, tipo ASD Sinus coronario tipo CIA hrdo:pat_id_14122 614433 C548009 neant Q21.1 99105 95268002 C0344730 clinical subtype ASD type sinus venosus ASD, sinus venosus type CIA type sinus venosus ASD, Sinus venosus Typ Atrial septal defect, sinus venosus type CIA, tipo sinus venoso Communication interauriculaire type sinus venosus DIA, tipo seno venoso Deficiência do septo atrial, tipo sinus venoso hrdo:pat_id_14123 108800 613087 C548006 neant Q21.2 99106 C0741296 clinical subtype ASD type ostium primum ASD, ostium primum type CIA type ostium primum ASD, Ostium primum Typ Atrial septal defect, ostium primum type CIA tipo ostium primum CIA, tipo ostium primum Communication interauriculaire type ostium primum DIA, tipo ostium primum hrdo:pat_id_14124 neant Q21.1 99107 95440004 C0521533 morphological anomaly Aneurisma del septo atrial Aneurisma del setto interatriale Aneurisma do septo auricular Anévrysme du septum interventriculaire Atrial septal aneurysm Septumaneurysma, atriales hrdo:pat_id_14125 D054092 10016982 neant Q21.1 99108 204317008 C0016522 morphological anomaly Foramen ovale perméable Patent foramen ovale Trou de Botal perméable Forame oval patente Forame ovale pervio Foramen oval patente Foramen ovale, offenes Patent foramen ovale Persistance du foramen ovale hrdo:pat_id_14126 neant Q26.1 99109 morphological anomaly Persistent left SVC connecting to the left-sided atrium Persistent left superior caval vein connecting to the left-sided atrium Persistent left superior vena cava connecting to the left-sided atrium SVC, linkspersistierende, mit Mündung in den Koronarsinus des linken Vorhofs VCS izquierda persistente al seno coronario al atrio del lado izquierdo Veia cava superior esquerda, persistente ao seio coronário do lado esquerdo da aurícula Veine cave supérieure gauche dans le sinus coronaire Vena cava superiore sinistra nel seno coronarico hrdo:pat_id_14127 neant Q26.8 99110 morphological anomaly Right SVC connecting to left-sided atrium Right superior caval vein connecting to left-sided atrium Right superior vena cava connecting to left-sided atrium SVC destra che si collega all'atrio sinistro SVC, rechte, verbunden mit dem linken Vorhof VCS derecho que conecta al atrio derecho Veia cava superior, direita, ligando ao lado esquerdo da aurícula Veine cave supérieure droite dans l'oreillette gauche hrdo:pat_id_14128 neant Q26.1 99111 morphological anomaly Left SVC persisting to left-sided atrium Left superior caval vein persisting to left-sided atrium Left superior vena cava persisting to left-sided atrium SVC sinistra che si collega all'atrio sinistro SVC, linkspersistierende, mit Mündung in den linken Vorhof VCS izquierdo persistente al lado derecho Veia cava superior esquerda persistente do lado esquerdo da aurícula Veine cave supérieure gauche dans le toit de l'oreillette gauche hrdo:pat_id_14129 neant Q26.8 99112 morphological anomaly Absence de veine brachiocéphalique Absence of brachiocephalic vein Absence de veine innominée Absence of innominate vein Assenza del tronco venoso (anonimo) Ausencia del tronco venoso (anónimo) Ausência de veia inominada Brückenvenen, Fehler der hrdo:pat_id_1413 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 108200 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Arthrogryposis+OR+arthrogryp*[ti]+OR+hand+abnorm*[ti]%29+%28deafness[ti]+OR+hearing+loss[mh]+OR+%28Stewart[tw]+Bergstrom[tw]%29%29 Q68.1 1144 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Arthrogrypose distale type 6 Arthrogrypose, distale, Typ 6 Artrogripose distal tipo 6 Artrogriposi distale, tipo 6 Artrogriposis distal tipo 6 Distal arthrogryposis type 6 Anomalia da mão tipo artrogripose - surdez neuro-sensorial Anomalia delle mani simile all'artrogriposi - sordità neurosensoriale Anomalía de la mano tipo artrogriposis - sordera neurosensorial Arthrogrypose de la main - surdité Arthrogrypose-ähnliche Handanomalie - sensorineurale Schwerhörigkeit Arthrogryposis-like hand anomaly - sensorineural deafness hrdo:pat_id_14130 neant Q26.8 99113 morphological anomaly Subaortic course of brachiocephalic vein Veine brachiocéphalique sous-aortique Curso subaórtico de la vena innominal Percorso subaortico della vena anonima Percurso subaórtico da veia inominada Subaortic course of innominate vein Veine innominée sous-aortique Vena brachiocephalica, subaortaler Verlauf hrdo:pat_id_14131 neant Q26.8 99114 morphological anomaly Absence of the SVC Absence of the superior caval vein Absence of the superior vena cava Agenesia de VCS Agenesia della VCS Agenesie der oberen Hohlvene Agenesis of the SVC Agenesis of the superior caval vein Assenza della VCS Assenza della vena cava superiore Ausencia de VCS Ausencia de vena cava superior SVC-Agenesie Agenesia da veia cava superior, direita Agenesia de vena cava superior Agenesia della vena cava superiore Agenesis of the superior vena cava Agénésie de la veine cave supérieure Vena cava superior, Agenesie der hrdo:pat_id_14134 neant Q21.1 99117 morphological anomaly Coronary sinus stenosis Estenose do seio coronário Estenosis del seno coronario Koronarsinusstenose Stenosi del seno coronarico Sténose du sinus coronaire hrdo:pat_id_14135 neant Q21.1 99118 morphological anomaly Atresia del seno coronarico Atresia del seno coronario Atresia do seio coronário Atrésie du sinus coronaire Coronary sinus atresia Koronarsinusatresie hrdo:pat_id_14136 neant Q26.8 99119 morphological anomaly Right IVC connecting to left-sided atrium Right inferior caval vein connecting to left-sided atrium Drainage anormal de la veine cave inférieure dans l'oreillette gauche IVC destra che si collega all'atrio sinistro IVC, rechte, verbunden mit dem linken Vorhof Right inferior vena cava connecting to left-sided atrium VCI derecho conectado al atrio izquierdo VCI, direita, ligando ao lado esquerdo auricular hrdo:pat_id_14137 neant Q26.8 99120 morphological anomaly Eustachische Klappe, persistierende Persistent eustachian valve Persistenza della tuba d'Eustachio Valve d'Eustache persistante Válvula de Eustachio Válvula de eustáquio persistente hrdo:pat_id_14138 neant Q26.8 99121 morphological anomaly Azygos continuation of the IVC Azygos continuation of the inferior caval vein Azygos continuation of the inferior vena cava Continuación ácigos, IVC Continuation azygos de la veine cave inférieure Continuazione della IVC azygos VCI, prolongamento da veia azigos Vena azygos-Kontinuations-Syndrom hrdo:pat_id_14139 neant Q26.0 99122 62335009 C0265934 morphological anomaly Congenital stenosis of the IVC Congenital stenosis of the inferior caval vein Congenital stenosis of the inferior vena cava Estenose da VCI, congénita Estenosis congénita IVC IVC-Stenose, kongenitale Stenosi congenita della IVC Sténose congénitale de la veine cave inférieure hrdo:pat_id_1414 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 301830 C535380 neant Q12.1 1145 C1844934 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Amyotrophie spinale avec arthrogrypose Amyotrophie spinale infantile liée à l'X Amyotrophie spinale proximale liée à l'X de type 2 Artrogriposis con atrofia muscular espinal Atrofia muscolare spinale con artrogriposi Atrofia muscolare spinale infantile legata all'X Atrofia muscolare spinale legata all'X, tipo 2 Atrofia muscular espinal infantil ligada al X Atrofia muscular espinal ligada al X tipo 2 SMAX2 SMAX2 SMAX2 SMAX2 Spinal muscular atrophy with arthrogryposis Spinale Muskelatrophie, X-chromosomale, Typ 2 Spinale Muskelatrophie, infantile, X-chromosomale X-linked infantile spinal muscular atrophy X-linked spinal muscular atrophy type 2 Arthrogrypose distale liée à l'X Arthrogryposis multiplex congenita, distale X-chromosomale Artrogripose distal múltipla congénita ligada ao X Artrogriposi multipla congenita distale legata all'X Artrogriposis distal múltiple congénita ligada al X X-linked distal arthrogryposis multiplex congenita hrdo:pat_id_14140 neant Q26.8 99123 morphological anomaly IVC interruption Inferior caval vein interruption IVC-Unterbrechung Inferior vena cava interruption Interrupción IVC Interruption de la veine cave inférieure Interrupção da VCI Interruzione della IVC hrdo:pat_id_14141 neant Q26.3 99124 morphological anomaly Anomalia do retono venoso pulmonar, congénita, parcial Anomalia parziale del ritorno venoso polmonare, tipo congenito Anomalie congénitale du retour veineux pulmonaire partiel Anomalía del retorno venoso pulmonar, parcial congénito Congenital partial pulmonary venous return anomaly Lungenvenenfehlmündung, kongenitale partielle hrdo:pat_id_14142 106700 neant Q26.2 99125 morphological anomaly Anomalia do retono venoso pulmonar, congénita, total Anomalie congénitale du retour veineux pulmonaire total Anomalía del retorno venoso pulmonar, total congénito Congenital total pulmonary venous return anomaly Lungenvenenfehlmündung, kongenitale totale Ritorno venoso polmonare anomalo totale, tipo congenito hrdo:pat_id_14143 neant Q26.8 99126 204467000 C0344679 morphological anomaly Atresia da veia pulmonar Atresia de la vena pulmonar Atresia delle vene polmonari Atrésie des veines pulmonaires Pulmonalvenenatresie Pulmonary vein atresia hrdo:pat_id_14146 neant Q24.8 99129 morphological anomaly Agenesia completa congenita del pericardio Agenesia completa del pericardio, congénita Agenesia completa do pericárdio, congénita Anomalie congénitale complète du péricarde Congenital complete agenesis of pericardium Perikardagenesie, kongenitale, komplette hrdo:pat_id_14147 neant Q24.8 99130 morphological anomaly Agenesia congénita parcial del pericardio Agenesia parcial do pericárdio, congénita Agenesia parziale congenita del pericardio Anomalie congénitale partielle du péricarde Congenital partial agenesis of pericardium Perikardagenesie, kongenitale, partielle hrdo:pat_id_14148 neant Q24.8 99131 morphological anomaly Cisti pleuro-pericardica Kystes pleuro-péricardiques Pleuro-pericardial cyst Quiste pleuro-pericárdico Quisto pleuro-pericárdico Zyste, pleuroperikardiale hrdo:pat_id_14151 99134 disease Estomatocitose intermédia, síndrome Intermediate stomatocytosis syndrome Intermediäre Stomatozytose-Syndrome Sindromi da stomatocitosi intermedia Syndrome stomatocytaire intermédiaire Síndromes de estomatocitosis intermedios hrdo:pat_id_14152 neant D55.1 99135 disease 6-Phosphogluconat-Dehydrogenase-Mangel 6-phosphogluconate dehydrogenase deficiency Deficit di 6-fosfogluconato deidrogenasi Deficiência de 6-fosfogluconato desidrogenase Déficit de 6-fosfogluconato deshidrogenasa Déficit en 6-phosphogluconate déshydrogénase hrdo:pat_id_14155 neant D55.3 99138 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Anemia emolitica da eccesso di adenosina deaminasi negli eritrociti Anemia hemolítica por sobreproducción de adenosina deaminasa en eritrocitos Anémie hémolytique par surproduction d'adénosine déaminase Excesso de adenosina deaminase Hemolytic anemia due to erythrocyte adenosine deaminase overproduction Hämolytische Anämie durch erythrozytäre Adenosin-Desaminase-Überproduktion hrdo:pat_id_14156 99139 disease Doença de hemoglobina instável Emoglobinopatia instabile Enfermedad de la hemoglobina inestable Hämolytische Anämie durch Instabiles Hämoglobin Maladie de l'hémoglobine instable Unstable hemoglobin disease hrdo:pat_id_14158 99141 malformation syndrome Atresia coanale posteriore - sindrome da linfedema Atresia posterior de coanas - síndrome de linfedema Atrésie choanale postérieure - lymphedème Posterior choanal atresia - lymphedema syndrome Posteriore Choanalatresie - Lymphödem-Syndrom Síndrome Atresia posterior das coanas - linfedema hrdo:pat_id_14159 99142 malformation syndrome Microcefalia - cutis verticis gyrata - linfedema Microcefalia - cutis verticis gyrata - linfedema Microcefalia - cutis verticis gyrata - linfedema Microcephaly - cutis verticis gyrata - lymphedema Microcéphalie - cutis verticis gyrata - lymphedème Mizrocephalie - Cutis verticis gyrata - Lymphödem hrdo:pat_id_1416 208200 1149 malformation syndrome Enfermedad de Kuskokwim Kuskokwim disease Kuskokwim-Krankheit Maladie de Kuskokwim Malattia di Kuskokwim Arthrogrypose-ähnliches Symptom Arthrogryposis-like syndrome Doença artrogripose-like Sindrome artrogriposi-simile Syndrome arthrogrypose-like Síndrome artrogriposis-like hrdo:pat_id_14160 99143 particular clinical situation in a disease or syndrome Disostosi mandibolo-facciale - sindrome da linfedema Disostosis mandibulofacial - síndrome de linfedema Dysostose mandibulo-faciale - lymphedème Mandibulo-facial dysostosis - lymphedema syndrome Mandibulo-faziale Dysostose - Lymphödem-Syndrom Síndrome Disostose mandibulo-facial - linfedema hrdo:pat_id_14163 99146 disease Anomalie de fonction des plaquettes associée à l'insuffisance rénale Platelet function disease associated with renal insufficiency Uremia Uremia Uremia Urämie hrdo:pat_id_14164 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 10069495 neant D68.4 99147 234451005 C0272362 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acquired Von Willebrand disease Maladie acquise de Von Willebrand Acquired Von Willebrand syndrome Doença de von Willebrand adquirida Enfermedad de Von Willebrand adquirida Malattia di Von Willebrand acquisita Syndrome de Von Willebrand acquis Von-Willebrand-Syndrom, erworbenes hrdo:pat_id_14168 99151 disease Hippocampal tauopathy in cerebral aging Hippocampus-Tauopathie bei zerebraler Alterung Tauopathie de l'hippocampe du cerveau âgé Tauopatia dell'ippocampo associata a invecchiamento cerebrale Taupatia hipocampal no envelhecimento cerebral Taupatía del hipocampo en el envejecimiento cerebral hrdo:pat_id_1417 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 208155 C538401 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Arthrogryposis+OR+Arthrogrypo*%29+AND+whistling+face+NOT+Freeman+Sheldon%5Btw%5D Q87.8 1150 C1859711 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Arthrogryposis multiplex congenita - ZNS-Kalzifikation Illum syndrome Illum, síndrome de Illum-Syndrom Syndrome d'Illum Síndrome de Illum Síndrome de Illum Arthrogrypose multiple congénitale - face de siffleur Arthrogryposis multiplex congenita - Whistling-face-Syndrom Arthrogryposis multiplex congenita - whistling face Artrogripose múltipla - face em assobio congénita Artrogriposi multipla - faccia da ''fischiatore'' congenita Artrogriposis múltiple congénita - cara de silbido hrdo:pat_id_14173 99156 disease Multiple syringomas Siringomas múltiples Siringomas múltiplos Siringomi multipli Syringome, multiple Syringomes multiples hrdo:pat_id_14183 99166 morphological anomaly Familial combined hyperlipoproteinemia Hiperlipoproteinemia combinada, familiar Hiperlipoproteinemia familiar combinada Hyperlipoproteinämie, familiäre kombinierte Hyperlipoprotéinémie combinée familiale Iperlipoproteinemia combinata familiare hrdo:pat_id_14186 neant Q10.3 99169 253212001 morphological anomaly Epiblefaron Epiblefaron Epiblefaron Epiblepharon Epiblepharon Epiblépharon hrdo:pat_id_14187 99170 morphological anomaly Sindrome del nodo tarsale Syndrom der genickten Lidplatte Syndrome tarsal kink Síndrome del tarso torcido Síndrome torção tarsíca Tarsal kink syndrome hrdo:pat_id_14188 99171 morphological anomaly Ectropion congenito isolato Ectropion congénital isolé Ectropion congénito, isolado Ectropión congénito aislado Ektropion, isoliertes kongenitales Isolated congenital ectropion hrdo:pat_id_14189 neant Q10.1 99172 400954002 morphological anomaly Euriblefaron Euriblefaron Euriblefaron Euryblepharon Euryblepharon Euryblépharon hrdo:pat_id_1419 1153 disease Arthrogrypose néonatale transitoire Arthrogrypose, neonatale transiente Artrogripose neonatal transitória Artrogriposi neonatale transioria Artrogriposis neonatal transitoria Transient neonatal arthrogryposis hrdo:pat_id_14193 99176 morphological anomaly Augenlidretraktion, kongenitale Congenital eyelid retraction Retracción palpebral congénita Retrazione palpebrale congenita Retração congénita da pálpebra Rétraction congénitale des paupières hrdo:pat_id_14194 126300 neant Q10.3 99177 morphological anomaly Distichiasi isolata Distichiasis isolé Distichiasis, isolierte Distiquiasis aislada Distiquíase Isolated distichiasis hrdo:pat_id_14196 228990 neant H35.5 99179 malformation syndrome Dystrophie de Kandori Gefleckte Retina nach Kandori Kandori's fleck retina Retina a chiazze, tipo Kandori Retina mosqueada de Kandori Retina moteada de Kandori hrdo:pat_id_14199 neant Q96.0 99226 etiological subtype Monosomia X Monosomie X Monosomie X Monosomy X Monosomía X Monossomia X hrdo:pat_id_142 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300310 300755 C537409 10060360 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=X+linked%5Btw%5D+AND+%28agammaglobulinemia%5Btw%5D+OR+agammaglobulinaemia%5Btw%5D+OR+agammaglobulinemia%5Bmh%5D%29 D80.0 47 65880007 C0221026 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive clinical subtype 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Agamaglobulinemia tipo Brutton Agammaglobulinemia di Bruton Agammaglobulinémie type Bruton BTK, deficiência de BTK-Mangel BTK-deficiency Bruton type agammaglobulinemia Deficit di BTK Deficiência de BTK Déficit en BTK Agamaglobulinemia ligada ao X Agammaglobulinemia legata all'X Agammaglobulinemia ligada a X Agammaglobulinämie, X-chromosomale Agammaglobulinémie liée à l'X X-linked agammaglobulinemia hrdo:pat_id_14200 neant Q96.3 Q96.4 99228 etiological subtype Monosomia X in mosaico Monosomie X en mosaïque Monosomie X-Mosaik Monosomía X en mosaico Monossomia X em mosaicismo Mosaic monosomy X hrdo:pat_id_14201 neant Q99.8 99324 malformation syndrome UPD(13)pat UPD(13)pat UPD(13)pat UPD(13)pat UPD(13)pat Disomia uniparentale paterna del cromosoma 13 Disomie uniparentale paternelle du chromosome 13 Disomía uniparental paterna del cromosoma 13 Dissomia uniparental de origem paterna, cromossoma 13 Paternal uniparental disomy of chromosome 13 Uniparentale Disomie 13, paternale hrdo:pat_id_14202 neant Q98.8 99329 clinical subtype 48,XYYY 48,XYYY 48,XYYY syndrome 48,XYYY, síndrome 48,XYYY-Syndrom Syndrome 48,XYYY hrdo:pat_id_14203 neant Q98.8 99330 clinical subtype 49,XYYYY 49,XYYYY 49,XYYYY syndrome 49,XYYYY-Syndrom Syndrome 49,XYYYY Síndrome 49,XYYYY hrdo:pat_id_14205 155240 C536911 neant C73 99361 C1833921 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype Familial MTC MTC familial MTC familiar MTC familiare Cancer médullaire de la thyroïde familial Carcinoma medular da tiroide, familiar Carcinoma medular de tiroides familiar Carcinoma midollare della tiroide familiare Familial medullary thyroid carcinoma Schilddrüsenkarzinom, medulläres, familiäres hrdo:pat_id_14209 10035079 neant D35.2 99408 128664001 254956000 C0032000 group of phenomes Adenoma hipofisario Adenoma ipofisario Adenoma pituitário com ou sem insuficiência hormonal Adénome hypophysaire Hypophysenadenom Pituitary adenoma hrdo:pat_id_14210 neant Q96.1 Q96.2 99413 etiological subtype Sindrome di Turner da anomalie strutturali del cromosoma X Syndrome de Turner par anomalies de structure du chromosome X Síndrome de Turner causado por anomalías estructurales del cromosoma X Síndrome de Turner por anomalias estruturais do cromossoma X Turner syndrome due to structural X chromosome anomalies Turner-Syndrom durch strukturelle Anomalien des X-Chromosoms hrdo:pat_id_14212 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 300068 300274 neant E34.5 99429 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CAIS CAIS CAIS CASI Complete androgen resistance syndrome SICA SICA Sindrome da resistenza completa agli androgeni Síndrome de resistencia completa a los andrógenos Androgen-Insensitivität, komplette Complete androgen insensitivity syndrome Insensibilidade aos androgénios, completa Sindrome da insensibilità completa agli androgeni Syndrome d'insensibilité complète aux androgènes Síndrome de insensibilidad completa a los andrógenos hrdo:pat_id_14215 613343 neant Q77.7 99642 disease Displasia espondiloepimetafisaria, tipo Handigodu Displasia espondiloepimetafisária, tipo Handigodu Displasia spondiloepimetafisaria, tipo Handigodu Dysplasie spondyloépimétaphysaire type Handigodu Dysplasie, spondyloepimetaphysäre, Typ Handigodu Spondyloepimetaphyseal dysplasia, Handigodu type hrdo:pat_id_14218 neant Q77.3 99645 389262009 C1300227 disease Dappled diaphyseal dysplasia Displasia diafisaria maculare Displasia diafisaria moteada Displasia diafisária manchada Dysplasie diaphysaire tachetée Dysplasie, diaphysäre gefleckte hrdo:pat_id_14219 614875 neant 99646 disease Chondromatose métaphysaire avec acidurie D-2-hydroxyglutarique Condromatose metafisária com acidúria d-2-hidroxiglutárica Condromatosi metafisaria con aciduria D-2-idrossiglutarica Condromatosis metafisaria con aciduria d-2-hidroxi-glutárica Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria Metaphysäre Chondromatose mit D-2-Hydroxyglutaryl-Azidurie hrdo:pat_id_14220 99647 disease Cheiro-spondilo-encondromatosi Cheiro-spondylo-enchondromatose Cheiro-spondyloenchondromatose Cheiro-spondyloenchondromatosis Queiro-espondiloencondromatose Queiro-espondiloencondromatosis hrdo:pat_id_14221 99648 disease Blocco cardiaco congenito non progressivo Block cardiaque congénital non-progressif Bloqueio cardíaco, congénito, não-progressivo Bloqueo cardíaco congénito no progresivo Herzblock, kongenitaler, nicht-progressiver Non-progressive congenital heart block hrdo:pat_id_14222 99649 disease Epilepsia generalizada e convulsões induzidas pela praxis Epilepsia generalizada y convulsiones inducidas por la práctica clínica Epilepsie généralisée et crises praxis-induites Epilessia generalizzata e crisi epilettiche indotte dalla prassi Generalisierte Epilepsie und praxis-induzierte Anfälle Generalized epilepsy and praxis-induced seizures hrdo:pat_id_14223 99650 group of phenomes 'Canalopatia non ''pore-loop'' implicata in diverse forme di epilessia' 'Canolopatia não-''pore-loop'', envolvida em diversos tipos de epilepsia' Canalopathie ''non-pore -loop'' impliquée dans différents types d'épilepsie Canalopatía no poro-bucle relacionada con varios tipos de epilepsia Ionenkanalkrankheit, nicht ''Pore-loop''', beteiligt bei verschiedenen Epilepsieformen Non-pore-loop channelopathy involved in several types of epilepsy hrdo:pat_id_14224 99651 group of phenomes 'Canalopatie non ''pore-loop'' implicate in altre malattie dei tubuli renali' 'Canolopatia não-''pore-loop'', envolvida em outras doenças tubulares renais' Canalopathie ''non-pore -loop'' impliquée dans d'autres maladies rénales tubulaires Canalopatías no poro-bucle relacionadas con otro trastorno tubular renal Ionenkanalkrankheit, nicht ''Pore-loop''', beteiligt bei sonstigen tubulären Nierenkrankheiten Non-pore-loop channelopathy involved in other renal tubular disorder hrdo:pat_id_14227 99654 disease Fibrocalculous pancreatopathy Pancreatopatia fibrocalcolosa Pancreatopatia fibrocalculosa Pancreopatía fibrocalculosa Pancréatopathie fibrocalculeuse Pankreatopathie, fibrokalzinöse hrdo:pat_id_1423 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 208230 C535387 neant Q77.7 1159 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Displasia espondiloepifisaria artropatía progresiva Displasia spondiloepifisaria - artropatia progressiva Dysplasie spondyloépiphysaire - arthropathie progressive Spondyloepiphyseal dysplasia tarda - progressive arthropathy Spondyloepiphysäre Dysplasie mit progressiver Arthropathie Arthropathie pseudorhumatoïde progressive infantile Arthropathie, progressive pseudorheumatoide, der Kindheit Artropatia progressiva pseudo-reumatóide da infância Artropatia pseudoreumatoide progressiva infantile Artropatía pseudoreumatoide progresiva infantil Progressive pseudorheumatoid arthropathy of childhood hrdo:pat_id_14230 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 224500 612406 neant G24.1 99657 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown DYT2 DYT2 Distonia primaria, tipo DYT2 Distonia primária de torção, autossómica recessiva Distonía primaria, tipo DYT2 Dystonie primaire type DYT2 Dystonie, primäre, Typ DYT2 Primary dystonia, DYT2 type hrdo:pat_id_14235 99662 disease Posterior fossa tumors Tumeur de la fosse postérieure Tumore der hinteren Schädelgrube Tumores da fossa posterior Tumores de la fosa posterior Tumori della fossa posteriore hrdo:pat_id_14236 99663 disease Torcicollo vestibolare Torcicolo vestibular Torticolis vestibulaire Torticollis, vestibulärer Tortícolis vestibular Vestibular torticollis hrdo:pat_id_14237 99664 disease Paralisi dei nervi trocleari Paralisia do nervo troclear Paralysie du nerf trochléaire Parálisis del nervio troclear Trochlear nerve palsy Trochlearisparese hrdo:pat_id_14238 99665 disease Ernia ventrale Hernia ventral Hernie ventrale Hernie, ventrale Hérnia ventral Ventral hernia hrdo:pat_id_14239 99666 45179004 C0263905 disease Atlantoaxial subluxation Atlantoaxiale Subluxation Sublussazione atlantoassiale Subluxación atlantoaxial Subluxation atloïdo-axoïdienne Subluxação atlantoaxial hrdo:pat_id_1424 208300 D002915 10003446 I89.8 1160 52985009 C0008732 disease Ascite chilosa Ascite chyleuse Ascite quilosa Ascitis quilosa Aszites, chylöser Chylous ascites hrdo:pat_id_14245 602401 neant 99672 malformation syndrome Fried's tooth and nails syndrome Sindrome delle dita dei piedi e delle unghie di Fried Syndrome dent et ongle de Fried Síndrome Dente e unhas de Fried Síndrome diente-uña de Fried Zahn-Nagel-Syndrom Typ Fried hrdo:pat_id_1426 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 125520 neant Q87.0 1166 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Asymétrie faciale des pleurs isolée Cayler-Syndrom Gesichtslähmung, einseitige partielle Hypoplasie unilatérale congénitale du muscle triangulaire des lèvres Isolated Asymmetric Crying Facies Paresi facciale parziale monolaterale Paresia facial parcial unilateral Sindrome di Cayler Síndrome de Cayler Assimetria facial com o choro Asymmetrisches Schreigesicht Congenital unilateral hypoplasia of depressor anguli oris Faccia asimmetrica durante il pianto Hypoplasie unilatérale congénitale du muscle abaisseur de l'angle de la bouche Llanto asimétrico hrdo:pat_id_14261 99688 malformation syndrome Dermotrichales Syndrom Dermotrichic syndrome Sindrome dermotrichica Syndrome Dermotriche Síndrome dermotríquico Síndrome tricodérmico hrdo:pat_id_14267 99694 malformation syndrome Alveolar synechia - ankyloblepharon - ectodermal dysplasia Alveoläre Synechie - Ankyloblepharon - ektodermale Krankheiten Sinechia alveolare - anchiloblefaron - disturbi ectodermici Sinequia alveolar - anquiloblefaron - trastornos ectodérmicos Sinéquia alveolar - anquiloblefaro - displasia ectodérmica Synéchie alvéolaire - ankyloblépharon - ectodermie dysplasique hrdo:pat_id_1427 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 208920 neant G11.3 1168 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown AOA AOA AOA1 AOA1 AOA1 Atassia - aprassia oculomotoria Ataxia - apraxia oculomotora tipo 1 Ataxia - oculomotor apraxia type 1 Ataxia com apraxia oculo-motora Ataxie - apraxie oculo-motrice type 1 Ataxie - okulomotorische Apraxie, Typ 1 hrdo:pat_id_14274 99701 disease Epilepsia del lóbulo temporal mesial con esclerosis del hipocampo Epilepsia mesial do lobo temporal com esclerose do hipocampo Epilepsie du lobe mésio-temporal avec sclérose de l'hippocampe Epilessia del lobo temporale mesiale con sclerosi ippocampale Mesial temporal lobe epilepsy with hippocampal sclerosis Mesiale Temporallappenepilepsie mit Hippocampussklerose hrdo:pat_id_14277 99704 disease Deficiência de Trkb Déficit de TrkB (siglas en inglés) Obesity, hyperphagia, and severe developmental delay due toTrkB gene deficiency Obesità, iperfagia e ritardo dello sviluppo da deficit del gene TrkB Obésité, hyperphagie et retard du développement dû à un déficit du gène TrkB TrkB-Antikörper-Mangel hrdo:pat_id_14279 99706 disease Arthropathie associée à la progeria Arthropathie, Progeria-assoziierte Artropatia associada a progeria Artropatia associata a progeria Artropatía asociada a progeria Progeria-associated arthropathy hrdo:pat_id_14283 99710 group of phenomes Acrocheratodermia puntata con pigmentazione efelide-simile Acroqueratodermia pontuada, pigmentação tipo sardas Acroqueratodermia punteada con manchas pecosas Pigmentation acrokératodermique ponctuée type Freckle-like Punctate acrokeratoderma freckle like pigmentation Punktiertes Akrokeratoderm mit Sommersprossen-ähnlicher Pigmentierung hrdo:pat_id_14288 604308 neant 99715 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Mitral valve-aorta-skeleton-skin syndrome Mitralklappenprolaps - Aortenerweiterung - Striae - Skelettbeteiligung Prolapsus de la valve mitrale - anévrysme aortique - vergetures - signes squelettiques Síndrome de válvula mitral-aorta-esqueleto-piel MASS syndrome MASS-Syndrom Prolasso della valvola mitrale - aneurisma aortico - smagliature - difetti scheletrici Syndrome MASS Síndrome MASS Síndrome MASS hrdo:pat_id_1429 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 213200 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28nonprogressive+OR+non+progressive%29+AND+%28congenital+ataxia*%5Bti%5D+OR+ataxia/cn+OR+%28ataxia/ge+AND+congenital%29%29 G11.0 1170 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CPD III SCAR2 SCAR2 SCAR2 SCAR2 SCAR2 Ataxie cérébelleuse autosomique récessive type 3 Autosomal recessive cerebelloparenchymal disorder type 3 Disturbo cerebelloparenchimale, autosomico recessivo, tipo 3 Doença cerebeloparenquimatosa tipo 3 autossómica recessiva Trastorno cerebeloparenquimatoso autosómico recesivo 3 Zerebello-parenchymale Krankheit, autosomal-rezessive, Typ III hrdo:pat_id_14291 Normal Normal Normal Normal Normal Normal Normale Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 165200 500001 neant H47.2 99718 Herencia mitocondrial Hérédité mitochondriale Mitochondrial inheritance Mitochondrial inheritance Mitochondriale Vererbung Modo de hereditariedade mitocondrial Trasmissione mitocondriale disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Doença de Leber 'plus' Enfermedad de Leber "plus" Leber ''plus''-Krankheit' Leber 'plus' disease Maladie de Leber ''plus'' Malattia di Leber ''plus'' hrdo:pat_id_14295 neant K22.0 99722 clinical subtype Acalasia, forma esporádica Acalasia, forma esporádica Acalasia, forma sporadica Achalasie sporadique Achalasie, sporadische Sporadic achalasia hrdo:pat_id_14296 200400 C536011 neant K22.0 99723 C1860213 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo clinical subtype Acalasia esofagea familiare Acalasia esofágica familiar Acalasia, esofágica, familiar Achalasie oesophagienne familiale Achalasie, familiäre ösophageale Familial esophageal achalasia hrdo:pat_id_14298 102200 D005877 10018265 neant E22.0 99725 80849007 C0017547 disease Acromegalia, formas infantil y juvenil Acromegalia, forme infantili e giovanili Acromégalie infantile et juvénile Akromegalie, infantile und juvenile Formen Infantile and juvenile forms of acromegaly Riesenwuchs Gigantism Gigantisme Gigantismo Gigantismo Gigantismo (acromegalia, formas infantis e juvenis) Gigantismus hrdo:pat_id_14304 272300 neant E72.1 99731 etiological subtype Deficiencia aislada de sulfito oxidasa ISOD ISOD ISOD ISOD ISOD Solfocisteinuria Sulfocisteinuria Sulfocysteinuria Sulfocysteinurie Sulfocystinurie Deficit isolato di solfito ossidasi Deficiência isolada de sulfito oxidase Déficit aislado de sulfito oxidasa Déficit en sulfite oxydase isolé Isolated sulfite oxidase deficiency Sulfitoxidase-Mangel, isolierter hrdo:pat_id_14305 252150 neant E72.1 99732 etiological subtype Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase Déficit combiné en sulfite oxydase, xanthine déshydrogénase et aldéhyde oxydase MOCOD MOCOD MOCOD MOCOD MOCOD Deficiencia de sulfito oxidasa provocada por deficiencia del cofactor molibdeno Deficit di solfito-ossidasi da deficit del cofattore molibdeno Deficiência de sulfito oxidase por deficiência do cofator de molibdénio Déficit en sulfite oxydase du à un déficit en cofacteurs du molybdène Sulfite oxidase deficiency due to molybdenum cofactor deficiency Sulfitoxidase-Mangel durch Molybdän-Cofaktor-Mangel hrdo:pat_id_14307 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 608390 neant G71.1 99734 C0752355 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Exercise-induced delayed-onset myotonia Fluctuating myotonia Miotonia fluttuante Miotonia indotta dall'esercizio a esordio ritardato Miotonía de aparición tardía inducida por el ejercicio Miotonia fluctuans Miotonia fluctuans Miotonía fluctuante Myotonia fluctuans Myotonia fluctuans Myotonie fluctuante hrdo:pat_id_14308 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 608390 neant G71.1 99735 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Miotonia permanens Miotonia permanente Miotonía permanente Myotonia permanens Myotonia permanens Myotonie permanente hrdo:pat_id_14309 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 608390 neant G71.1 99736 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 ACZ-responsive congenital myotonia ACZ-responsive myotonia Acetazolamide-responsive congenital myotonia Miotonia - contrazioni dolorose Miotonia congenita dolorosa Miotonia congenita sensibile all'ACZ Miotonia congenita sensibile all'acetazolamide Miotonia dolorosa Miotonia sensibile all'ACZ Miotonía - contracciones dolorosas Miotonía congénita dolorosa Miotonía congénita sensible a la ACZ Miotonía congénita sensible a la acetazolamida Miotonía dolorosa Miotonía sensible a la ACZ Myotonia - painful contractions Myotonie avec crampes douloureuses Myotonie douloureuse Myotonie répondant à l'acétazolamide Myotonie sensible à l'ACZ Painful congenital myotonia Painful myotonia Acetazolamide-responsive myotonia Miotonia congénita sensível a acetalozamida Miotonia sensibile all'acetazolamide Miotonía sensible a la acetazolamida Myotonia congenita, Azetazolamidempfindliche Myotonie sensible à l'acétazolamide hrdo:pat_id_1431 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 212835 C535350 neant G11.1 Q82.4 1174 C1859306 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Atassia cerebellare - displasia ectodermica Ataxia cerebelosa - displasia ectodérmica Ataxia cerebelosa displasia ectodérmica Ataxie cérébelleuse - dysplasie ectodermique Ataxie, zerebelläre - ektodermale Dysplasie Cerebellar ataxia - ectodermal dysplasia hrdo:pat_id_14312 D024741 99739 C0949658 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate group of phenomes Cardiomiopatía hipertrófica familiar Cardiomyopathie hypertrophique obstructive familiale Familial hypertrophic obstructive cardiomyopathy Familial hypertrophic subaortic stenosis Myocardiopathie hypertrophique obstructive familiale Rétrecissement sous-aortique hypertrophique familial Sténose sous-aortique hypertrophique familiale Cardiomiopatia ipertrofica familiare Cardiomyopathie hypertrophique familiale Familial hypertrophic cardiomyopathy Kardiomyopathie, hypertrophe, familiäre Form Miocardiopatia, familiar, hipertrófica Miocardiopatía hipertrófica familiar hrdo:pat_id_14314 145600 C536883 neant G71.2 99741 C1840365 malformation syndrome Koussef-Nichols syndrome Koussef-NicholsSyndrom Sindrome di Koussef-Nichols Syndrome de Koussef-Nichols Síndrome de Koussef-Nichols King-Denborough syndrome King-Denborough-Syndrom Sindrome di King-Denborough Syndrome de King-Denborough Síndrome de King-Denborough Síndrome de King-Denborough hrdo:pat_id_14315 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 607196 neant Q02 99742 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Amish lethal microcephaly Microcefalia letal de Amish Microcefalia letale, tipo Amish Microcefalia, tipo Amish Microcéphalie létale type Amish Mikrozephalie, letale, Typ Amish hrdo:pat_id_14318 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Variabel Variabile Variable Variable Variable Variable Variável neant A01.0 99745 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Enteric fever Fiebre entérica Fiebre paratifoidea Fièvre entérique Fièvre paratyphoïde Fièvre typhoïde Paratyphoid fever Salmonelosis tifoidea Typhoid fever Typhoidal salmonellosis Fiebre tifoidea Tifo Tifóide Typhoid Typhoïde Typhus hrdo:pat_id_14321 Variabel Variabile Variable Variable Variable Variable Variável 10054161 neant A48.2 99748 240447002 C0343528 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Febbre di Pontiac Febre de Pontiac Fiebre de Pontiac Fièvre de Pontiac Pontiac fever Pontiac-Fieber hrdo:pat_id_14322 610738 neant D70 99749 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Kostmann syndrome Kostmann-Syndrom Sindrome di Kostmann Syndrome de Kostmann Síndrome de Kostmann Síndrome de Kostmann hrdo:pat_id_14323 260540 C537240 neant G23.1 99750 C1850077 clinical subtype 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Atypical PSP Atypische PSP PSP atipica PSP atypique PSP atípica Atypical progressive supranuclear palsy Paralisi sopranucleare progressiva atipica Paralisia supranuclear, progressiva atípica Paralysie supranucléaire progressive atypique Parálisis supranuclear progresiva atípica Progressive supranukleäre Blickparese, atypische hrdo:pat_id_14329 268220 D018232 10065867 neant C49 99756 404053004 63449009 C0206655 clinical subtype Alveolar rhabdomyosarcoma Rabdomiosarcoma alveolar Rabdomiosarcoma alveolare Rabdomiossarcoma, alveolar Rhabdomyosarcome alvéolaire Rhabdomyosarkom, alveoläres hrdo:pat_id_1433 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 302500 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%28ataxia%5Bti%5D+AND+medline%5Bsb%5D%29+OR+Cerebellar+ataxia%5Bmajr%5D%29+AND+%28X+linked%5Bti%5D+OR+chromosome+X%5Bmajr%5D%29+NOT+anemia G11.1 1175 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Kleinhirnataxie, X-chromosomale SCAX1 SCAX1 Atassia cerebellare legata all'X, tipo 1 Ataxia cerebelar ligada ao X Ataxia cerebelosa progresiva ligada al X Ataxie cérébelleuse progressive liée à l'X Ataxie, zerebelläre, X-chromosomale, Typ 1 X-linked progressive cerebellar ataxia hrdo:pat_id_14330 268210 D018233 10065868 neant C49 99757 14269005 404051002 C0206656 clinical subtype Embryonal rhabdomyosarcoma Rabdomiosarcoma embrionale Rabdomiosarcoma embrionario Rabdomiossarcoma, embrionário Rhabdomyosarcome embryonnaire Rhabdomyosarkom, embryonales hrdo:pat_id_14336 203400 610600 neant E27.4 99763 etiological subtype 18-Hydroxylase-Mangel 18-Oxydase-Mangel 18-hydroxylase deficiency 18-oxidase deficiency Aldosteron-Synthetase-Mangel Aldosterone synthase deficiency CMO 1 CMO 2 CMO I CMO I CMO I CMO I CMO II CMO II CMO II CMO II Corticosteron-Methyloxidase-Mangel Typ I Corticosterone methyl-oxidase deficiency type I Deficit di 18-idrossilasi Deficit di 18-ossidasi Deficit di aldosterone sintasi Deficit di corticosterone metil-ossidasi, tipo 1 Déficit de 18 hidroxilasa Déficit de 18 oxidasa Déficit de aldosterona sintasa Déficit de corticosterona metil oxidasa tipo 1 Déficit en 18-hydroxylase Déficit en 18-oxydase Déficit en aldostérone synthase Déficit en corticostérone méthyl-oxydase type I FHHA1 FHHA1 FHHA1 FHHA1 Familial hyperreninemic hypoaldosteronism type 1 Hipoaldosteronismo hiperreninémico familiar tipo 1 Hipoaldosteronismo hiperreninémico, tipo 1 (FHHA1), familiar Hypoaldosteronismus, familiärer hyperreninämischer, Typ 1 Hypoaldostéronisme hyperréninémique familial type 1 Ipoaldosteronismo iperreninemico familiare, tipo 1 hrdo:pat_id_14337 606984 neant E27.4 99764 etiological subtype Aldosteron-Synthetase-Mangel (nicht CYP11B2-Gen abhängig) Aldosterone synthase deficiency unlinked to CYP11B2 Aldosterone synthase deficiency unlinked to the aldosterone synthase gene Deficit di aldosterone sintasi non legato a CYP11B2 Deficit di aldosterone sintasi non legato al gene dell'aldosterone sintasi Déficit de aldosterona sintasa no ligado a CYP11B2 Déficit de aldosterona sintasa no ligado al gen de la aldosterona sintasa Déficit en Aldostérone synthase non lié à CYP11B2 Déficit en aldostérone synthase non lié au gène de l'aldostérone synthase FHHA2 FHHA2 FHHA2 FHHA2 Familial hyperreninemic hypoaldosteronism type 2 Hipoaldosteronismo hiperreninémico familiar tipo 2 Hipoaldosteronismo hiperreninémico, tipo 2 (FHHA2), familiar Hypoaldosteronismus, familiärer hyperreninämischer, Typ 2 Hypoaldostéronisme hyperréninémique familial type 2 Ipoaldosteronismo iperreninemico familiare, tipo 2 hrdo:pat_id_14344 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q35.7 99771 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Bifidity of the uvula Bifidité de la luette Fente de la luette Uvular cleft Bifid uvula Gaumenzäpfchen, zweigeteiltes Luette bifide Ugola bifida Úvula bífida Úvula bífida hrdo:pat_id_14345 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 119570 neant Q35.3 99772 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Cleft velum palatinum Fente du palais mou Fente du palais musculo-membraneux Fente du voile du palais Gaumensegelspalte Hendidura del paladar blando Hendidura del velo palatino Schisi del palato molle Schisi del velo palatino Soft cleft palate Spalte des weichen Gaumens Cleft velum Fenda do velum Fente vélaire Hendidura del velo del paladar Schisi del velo Velumspalte hrdo:pat_id_14349 C535454 neant Q92.1 99776 C2930908 malformation syndrome Mosaic trisomy 9 Mosaik-Trisomie 9 Trisomia 9 in mosaico Trisomie 9 en mosaïque Trisomía 9 en mosaico Trissomia 9 em mosaicismo hrdo:pat_id_1435 272600 1178 disease Atassia - degenerazione tapetoretinica Ataxia - degeneração tapetoretiniana Ataxia - tapetoretinal degeneration Ataxia degeneración tapeto retiniana Ataxie - dégénérescence tapéto-rétinienne Ataxie mit tapetoretinaler Degeneration hrdo:pat_id_14350 231550 C536009 neant 99777 45414006 C2931084 disease Achalasia-alacrimia syndrome Achalasie - alacrymie Achalasie-Alakrimie-Syndrom Sindrome acalasia-alacrimia Síndrome acalasia-alacrimia Síndrome de acalasia alacrimia hrdo:pat_id_14354 neant M11.1 99781 clinical subtype CCAL1 CCAL1 Chondrocalcinose articulaire familiale type 1 Chondrokalzinose, artikuläre familiäre, Typ 1 (CCAL1) Condrocalcinose, familiar, articular, tipo 1 (CCAL1) Condrocalcinosi articolare familiare, tipo 1 (CCAL1) Familial articular chondrocalcinosis type 1 Familial articular chondrocalcinosis type 1 hrdo:pat_id_14355 neant M11.1 99782 clinical subtype CCAL2 CCAL2 Chondrocalcinose articulaire familiale type 2 Chondrokalzinose, artikuläre familiäre, Typ 2 (CCAL2) Condrocalcinose, familiar, articular, tipo 2 (CCAL2) Condrocalcinosi articolare familiare, tipo 2 (CCAL2) Condrocalcinosis familiar articular, tipo 2 Familial articular chondrocalcinosis type 2 hrdo:pat_id_1436 168885 1179 disease Ouvrier-Billson syndrome Ouvrier-Billson-Syndrom Sindrome di Ouvrier-Billson Syndrome d'Ouvrier-Billson Síndrome de Ouvrier-Billson Ataxia - desvio tónico para cima dos olhos Ataxie mit tonischer Aufwärtsabweichung der Augen Benign paroxysmal tonic upgaze of childhood with ataxia Desviación tónica paroxística benigna de la mirada hacia arriba de la infancia con ataxia Deviazione superiore degli occhi tonica parossistica benigna con atassia Déviation tonique paroxystique bénigne du regard avec ataxie hrdo:pat_id_14362 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 125400 146400 C538215 neant K00.5 99789 109493006 C0399379 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 DD-I DD-I DD-I DD-I DTDP1 DTDP1 DTDP1 DTDP1 Displasia de dentina radicular Displasia radicolare della dentina Dysplasie dentinaire radiculaire Dysplasie radiculaire de la dentine Radicular dentin dysplasia Dentin dysplasia type I Dentindysplasie Typ 1 (DTDP1) Displasia da dentina, tipo I Displasia de dentina tipo I Displasia della dentina, tipo I Dysplasie de la dentine type 1 hrdo:pat_id_14364 125420 neant K00.5 99791 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 DD-II DD-II DTDP2 DTDP2 DTDP2 Dysplasie dentinaire type II Dentin dysplasia type II Dentindysplasie Typ 2 (DTDP2) Displasia da dentina, tipo II Displasia de la dentina tipo II Displasia della dentina, tipo II Dysplasie de la dentine type II hrdo:pat_id_14365 125440 C538213 neant K00.5 99792 C1852201 disease Dentin dysplasia - sclerotic bones Dentindysplasie - Knochensklerose Displasia da dentina - ossos escleróticos Displasia de la dentina - huesos escleróticos Displasia della dentina - ossa sclerotiche Dysplasie de la dentine - ostéosclérose hrdo:pat_id_14369 300067 600348 607432 neant Q04.3 99796 C1848201 morphological anomaly Heterotopia subcortical laminar Hétérotopie laminaire sous-corticale Subcortical laminar heterotopia Bandheterotopie, subkortikale Eterotopia a banda sottocorticale Heterotopia subcortical em banda Heterotopia subcortical en banda Hétérotopie sous-corticale en bandes Subcortical band heterotopia hrdo:pat_id_1437 Variabel Variabile Variable Variable Variable Variable Variável 212840 605672 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28cerebellar+ataxia%5Bmh%5D+OR+ataxia%5Bti%5D%29+hypogonadism%5Bti%5D G11.8 1173 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficit dell'ormone rilasciante l'ormone luteinizzante - atassia Deficiência de LHRH com ataxia Déficit de liberación de hormona luteinizante con ataxia Déficit en LHRH LHRH com ataxia, deficiência de Luteinizing hormone-releasing hormone deficiency with ataxia Mangel an LH-Releasing-Hormon mit Ataxie Atassia cerebellare - ipogonadismo Ataxia cerebelosa - hipogonadismo Ataxia cerebelosa con hipogonadismo Ataxie cérébelleuse - hypogonadisme Ataxie, zerebelläre - Hypogonadismus Cerebellar ataxia - hypogonadism hrdo:pat_id_14370 206780 D000848 10002583 neant K00.0 99797 26624006 morphological anomaly Anodoncia Anodontia Anodontia Anodontie Anodontie Anodonzia hrdo:pat_id_14371 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 106600 150400 313500 604625 610926 613097 neant K00.0 99798 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive morphological anomaly >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Agenesia dental selectiva Agénésie dentaire sélective Selective tooth agenesis Oligodoncia Oligodontia Oligodontia Oligodontie Oligodontie Oligodonzia hrdo:pat_id_14375 neant Q04.5 99802 253170008 C0431391 clinical subtype Megalencefalia monolaterale Megalenzephalie, unilaterale Mégalencéphalie unilatérale Unilateral megalencephaly Emimegalencefalia Hemimegalencephaly Hemimegalenzephalie Hémimégalencéphalie Megalencefalia unilateral Megalencefalia unilateral hrdo:pat_id_14376 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 209880 neant G47.3 Q43.1 99803 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Congenital central alveolar hypoventilation - Hirschsprung disease Enfermedad de Ondine-Hirschsprung Hipoventilación alveolar central congénita - enfermedad de Hirschsprung Hypoventilation alvéolaire centrale congénitale - maladie de Hirschsprung Ipoventilazione alveolare centrale congenita - malattia di Hirschsprung Maladie de Ondine-Hirschsprung Malattia di Ondine-Hirschsprung Ondine-Hirschsprung disease Ondine-Hirschsprung syndrome Sindrome di Ondine-Hirschsprung Syndrome de Ondine-Hirschsprung Síndrome de Ondine-Hirschsprung Haddad syndrome Haddad-Syndrom Sindrome di Haddad Syndrome de Haddad Síndrome de Haddad Síndrome de Haddad hrdo:pat_id_14379 166750 neant K00.2 99806 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 OOD Syndrome OOD Oculootodental syndrome Oculootodental syndrome Okulo-otodentales Syndrom (OOD) Sindrome oculo-oto-dentale (OOD) Syndrome oculo-oto-dentaire Síndrome oculo-oto-dentário (OOD) hrdo:pat_id_1438 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 215470 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28ataxia%5Bmh%5D+OR+Ataxia%5Bti%5D%29+AND+hypogonadism+AND+%28choroidal+OR+chorioretinal%29 G11.8 1180 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Boucher-Neuhauser syndrome Boucher-Neuhäuser-Syndrom Sindrome di Boucher-Neuhauser Syndrome de Boucher-Neuhauser Síndrome de Boucher-Neuhauser Atassia - ipogonadismo - distrofia coroidea Ataxia - hipogonadismo - distrofia coroidal Ataxia - hipogonadismo - distrofia da coróide Ataxia - hypogonadism - choroidal dystrophy Ataxie - Hypogonadismus - chorioretinale Dystrophie Ataxie - hypogonadisme - dystrophie choroïdienne hrdo:pat_id_14380 260565 neant 99807 disease PEHO-like syndrome PEHO-ähnliches Syndrom Sindrome PEHO-simile Syndrome PEHO-like Síndrome PEHO-like Síndrome tipo PEHO hrdo:pat_id_14383 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 175780 614483 C536850 neant Q04.6 99810 C1867983 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate etiological subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Familial porencephaly Porencefalia familiar Porencefalia familiare Porencefalia, familiar Porencéphalie familiale Porenzephalie, familiäre hrdo:pat_id_14384 C537394 neant K59.8 99811 C1855733 etiological subtype Neuronal intestinal pseudoobstruction Pseudo-obstruction intestinale type neuronal Pseudo-obstrução intestinal, neuronal Pseudo-ostruzione intestinale neuronale Pseudoobstrucción intestinal neuronal Pseudoobstruktion, intestinale neuronale hrdo:pat_id_14385 Adulte jeune Adultos jóvenes Giovani adulti Jovem adulto Junge Erwachsene Young adult Young adult Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 606593 neant D81.1 99812 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 DNA ligase IV deficiency Deficiencia de ADN ligasa IV Deficit di DNA ligasi IV Déficit de ADN ligasa IV Déficit en DNA ligase IV Ligase 4 syndrome Ligase 4-Syndrom Sindrome della ligasi 4 Syndrome ligase 4 Síndrome de ligasa 4 LIG4 syndrome LIG4-Syndrom Sindrome LIG4 Syndrome LIG4 Síndrome LIG4 Síndrome LIG4 hrdo:pat_id_14390 276300 neant C18 99817 disease Nonpolyposis Turcot syndrome Sindrome di Turcot senza poliposi Syndrome de Turcot non polyposique Síndrome de Turcot não-polipose Síndrome de Turcot sin poliposis Turcot-Syndrom, non-polypöses hrdo:pat_id_14391 175100 neant D12.6 99818 clinical subtype Sindrome di Turcot con poliposi Syndrome de Turcot avec polypose Síndrome de Turcot com polipose Síndrome de Turcot con poliposis Turcot syndrome with polyposis Turcot-Syndrom mit Polyposis hrdo:pat_id_14392 603373 neant E05.8 99819 clinical subtype Familial gestational hyperthyroidism Hipertiroidismo familiar, gestacional Hipertiroidismo, familiar, gestacional Hyperthyreose, familiäre schwangerschaftsbedingte Hyperthyroïdie gestationnelle Ipertiroidismo familiare gestazionale hrdo:pat_id_14397 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável D007835 10023927 neant A96.2 99824 19065005 C0023092 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Fiebre hemorrágica de Lassa Fièvre hémorrhagique de Lassa LF LF Lassa hemorrhagic fever Febbre di Lassa Febre de Lassa Fiebre de Lassa Fièvre de Lassa Lassa fever Lassa-Fieber hrdo:pat_id_14398 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável neant A98.8 99825 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Encefalitis de Nipah Encéphalite à virus Nipah Fiebre de Nipah Fièvre à virus Nipah Nipah encephalitis Nipah fever Enfermedad por el virus de Nipah Febbre di Nipah Febre de Nipah Maladie à virus Nipah Nipah virus disease Nipah-Fieber hrdo:pat_id_14399 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 10026822 neant A98.3 99826 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Enfermedad del mono verde Enfermedad por virus de Marburg Green monkey disease MHF MHF MHF Maladie de Marbourg Maladie de Marburg Maladie du singe vert Maladie à virus de Marbourg Maladie à virus de Marburg Marburg virus disease Doença de Marburg Fiebre hemorrágica de Marburg Fièvre hémorrhagique de Marburg Malattia di Marburg Marburg hemorrhagic fever Marburg-Viruskrankheit hrdo:pat_id_144 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 277970 301000 600903 614493 D014923 10047992 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%22wiskott-aldrich+syndrome%22%5BTw%5D+NOT+Medline%5BSB%5D%29+OR+%22wiskott-aldrich+syndrome%22%5BMH%5D D82.0 906 36070007 C0043194 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Eczema - trombocitopenia - immunodeficienza Eczema-thrombocytopenia-immunodeficiency syndrome Eczema-trombocitopenia-imunodeficiência, síndrome de Eczéma - thrombocytopénie - immunodéficience Immundefekt kombiniert mit Thrombozytopenie und Ekzem Síndrome de eczema-trombocitopenia-imunodeficiência WAS Sindrome di Wiskott-Aldrich Syndrome de Wiskott-Aldrich Síndrome de Wiskott-Aldrich Síndrome de Wiskott-Aldrich Wiskott-Aldrich syndrome Wiskott-Aldrich-Syndrom hrdo:pat_id_1440 108650 neant G11.8 1182 disease Atassia spastica congenita Ataxia - miose espástica congénita Ataxia miosis congénita Ataxie - myosis congénital Ataxie mit kongenitaler spastischer Miosis Spastic ataxia with congenital miosis hrdo:pat_id_14400 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável neant A98.0 99827 43489008 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CCHF CCHF CCHF Congo fever Congo hemorrhagic fever Crimean hemorrhagic fever Fiebre del Congo Fiebre hemorrágica de Crimea Fiebre hemorrágica del Congo Fièvre du COngo Fièvre hémorragique de Crimée Fièvre hémorragique du Congo Crimean-Congo hemorrhagic fever Febbre emorragica di Crimea-Congo (CCHF) Febre hemorrágica Crimea-Congo (CCHF) Fiebre hemorrágica de Crimea-Congo Fièvre hémorragique de Crimée-Congo Krim-Kongo hämorrhagisches Fieber (CCHF) hrdo:pat_id_14401 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 614371 D003715 neant A90 99828 38362002 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown DF DF DHF DHF DHF Dengue hemorrhagic fever Dengue hémorrhagique Dengue shock syndrome Dengue virus infection Fiebre hemorrágica por dengue Infección por virus del dengue Síndrome de choque por dengue Dengue Dengue Dengue Dengue Dengue fever Dengue-Fieber hrdo:pat_id_14402 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável D015004 10048240 neant A95 99829 16541001 C0043395 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Bronze John Fiebre de Barbados Mal de Siam YF YF Yellow Jack Febbre gialla Febre amarela Fiebre amarilla Fièvre jaune Gelbfieber Yellow fever hrdo:pat_id_14404 Variabel Variabile Variable Variable Variable Variable Variável 607594 neant D83.1 99831 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo etiological subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CVID da deficit intrinseco delle cellule T CVID due to an intrinsic T cell defect CVID durch intrinsischen T-Zell-Defekt CVID dû à un défaut intrinsèque des cellules T CVID por defecto intrínseco de la célula T ICOS-Mangel Common variable immunodeficiency due to an intrinsic T cell defect Deficiência de proteína co-estimuladora induzível Déficit immunitaire commun variable dû à un défaut intrinsèque des cellules T Immundefekt, allgemeiner variabler, durch intrinsischen T-Zell-Defekt Immunodeficienza variabile comune da deficit intrinseco delle cellule T Inmunodeficiencia variable común por defecto intrínseco de la célula T hrdo:pat_id_14405 neant E03.1 99832 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Central hypothyroidism due to TRH receptor deficiency Hipotiroidismo central por déficit del receptor TRH Hypothyroïdie centrale due à un déficit du récepteur de la TRH Ipotiroidismo centrale da deficit del recettore del TRH Sindrome da resistenza al THR Syndrome de résistance à la TRH hypothalamique Síndrome de resistencia a la TRH THR Resistenz-Syndrom THR resistance syndrome Resistance to thyrotropin-releasing hormone syndrome Resistência generalizada à hormona libertadora de tireotropina Sindrome da resistenza all'ormone di rilascio della tireotropina Syndrome de résistance à la thyréolibérine Síndrome de resistencia a la hormona liberadora de tirotropina Thyrotropin-Releasing-Hormon (TRH)-Resistenz hrdo:pat_id_1441 1184 malformation syndrome Fenton-Wilkinson-Toselano syndrome Fenton-Wilkinson-Toselano-Syndrom Sindrome di Fenton-Wilkinson-Toselano Syndrome de Fenton-Wilkinson-Toselano Síndrome de Fenton-Wilkinson-Toselano Atassia - fotosensibilità - bassa statura Ataxia - fotosensibilidad - talla baja Ataxia - fotossensibilidade - baixa estatura Ataxia - photosensitivity - short stature Ataxie - Lichtempfindlichkeit - Kleinwuchs Ataxie - photosensibilité - petite taille hrdo:pat_id_14415 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 116920 C535887 neant D84.8 99842 234582006 C0398738 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 DAL-I Déficit d'adhérence des leucocytes type I Déficit d'adhérence leucocytaire type I Déficit d'adhésion des leucocytes type I LAD-1 LAD-I LAD-I LAD-I LAD-I Deficit di adesione leucocitaria, tipo 1 Deficiência da adesão leucocitária tipo I Déficit d'adhésion leucocytaire type 1 Déficit de adhesión leucocitaria tipo I Leukocyte adhesion deficiency type I Leukozytenadhäsionsdefekt Typ I hrdo:pat_id_14416 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 266265 neant D84.8 99843 234583001 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CDG IIc CDG IIc CDG syndrome type IIc CDG-IIc CDG-IIc CDG-IIc CDG-IIc CDG-Syndrom Typ IIc CDG2C CDG2C CDG2C CDG2C CDG2C DAL-II Deficiencia de adhesión leucocitaria tipo II Déficit d'adhérence des leucocytes type II Déficit d'adhérence leucocytaire type II Déficit d'adhésion des leucocytes type II Kongenitaler Defekt der Glycoproteinbiosynthese Typ IIc LAD-II LAD-II LAD-II LAD-II LAD-II Rambam-Hasharon syndrome Rambam-Hasharon-Syndrom SLC35C1-CDG syndrome Sindrome CDG, tipo IIc Sindrome SLC35C1-CDG Sindrome di Rambam-Hasharon Syndrome CDG type IIc Syndrome SLC35C1-CDG Syndrome de Rambam-Hasharon Síndrome CDG tipo IIc Síndrome SLC35C1-CDG Síndrome de Rambam-Hasharon Deficit di adesione leucocitaria, tipo II Deficiência da adesão leucocitária tipo II Déficit d'adhésion leucocytaire type II Déficit de adhesión leucocitaria tipo II Leukocyte adhesion deficiency type II Leukozytenadhäsionsdefekt Typ II hrdo:pat_id_14417 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 612840 neant D84.8 99844 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 DAL-III DAL-III Déficit d'adhérence des leucocytes type III Déficit d'adhérence leucocytaire type III Déficit d'adhésion des leucocytes type III LAD-1 Variante LAD-1 variant LAD-III LAD-III LAD-III LAD-III Leukocyte adhesion deficiency-1 variant Leukozytenadhäsionsdefekt Typ I Variante Variant du DAL-I Variant du déficit d'adhésion leucocytaire type I Variante de DAL-1 Variante del deficit dell'adesione leucocitaria tipo 1 Variante del déficit de adhesión leucocitaria 1 Variante di LAD-1 Deficit di adesione leucocitaria, tipo III Deficiência da adesão leucocitária tipo III Déficit d'adhésion leucocytaire type III Déficit de adhesión leucocitaria tipo III Leukocyte adhesion deficiency type III Leukozytenadhäsionsdefekt Typ III hrdo:pat_id_14418 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 268200 550500 neant R82.1 99845 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Genetic recurrent myoglobinuria Mioglobinuria recurrente genética Mioglobinuria ricorrente Mioglobinúria recorrente Myoglobinurie récurrente génétique Myoglobinurie, rekurrente, genetisch bedingte hrdo:pat_id_14419 160010 neant R82.1 99846 disease Autosomal dominant myoglobinuria Mioglobinuria dominante Mioglobinúria dominante Mioglobinúria forma dominante Myoglobinurie autosomique dominante Myoglobinurie, autosomal-dominante hrdo:pat_id_1442 271270 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=spinocerebellar+ataxia+unusual+facies+dysarthria+gait+ataxia G11.8 1185 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Atassia spinocerebellare - dismorfismi Ataxia espinocerebelosa - dismorfias Ataxia espinocerebelosa dismorfia Ataxie spinocérébelleuse - dysmorphie Ataxie, spinozerebelläre mit Dysmorphie Spinocerebellar ataxia - dysmorphism hrdo:pat_id_14422 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 612932 neant E74.0 99849 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficit di enolasi muscolare Déficit de enolasa del músculo Déficit de enolasa muscular Déficit en énolase musculaire GSD da deficit di beta-enolasi muscolare GSD due to muscle beta-enolase deficiency GSD par déficit en bêta-enolase musculaire GSD por déficit de beta-enolasa muscular GSDXIII GSDXIII GSDXIII GSDXIII Glicogenosi da deficit di beta-enolasi muscolare Glicogenosi, tipo 13 Glucogenosis por déficit de beta-enolasa muscular Glucogenosis tipo 13 Glycogenosis due to muscle beta-enolase deficiency Glycogenosis type 13 Glycogénose de type 13 Muscle enolase deficiency Muscular enolase deficiency Deficiência de enolase tipo 3 Enfermedad de almacenamiento de glucógeno por déficit de beta-enolasa muscular Enolase 3-Mangel Glycogen storage disease due to muscle beta-enolase deficiency Glycogènose par déficit en bêta-enolase musculaire Malattia da deposito di glicogeno dovuta a deficit di beta-enolasi muscolare hrdo:pat_id_14425 neant E75.2 99852 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Anorexie - vomissement irrépressible - signes neurologiques Reunion - anoressia - vomito Incoercibile - segni neurologici Reunion island - anorexia - vomiting which is irrepressible - neurological signs Reunion, Anorexie, unkontrollierbares Erbrechen, Neurologische Symptome Reunión - anorexia - vómitos incontenibles - signos neurológicos RAVINE syndrome RAVINESyndrom Reunião, Anorexia, Vómito Incoercível, e sinais NEurológicos (RAVINE) Sindrome RAVINE Syndrome RAVINE Síndrome RAVINE hrdo:pat_id_14426 603896 neant E75.2 99853 clinical subtype Ovaioleucodistrofia Ovarioleucodistrofia Ovarioleucodistrofia Ovarioleucodystrophie Ovarioleukodystrophie Ovarioleukodystrophy hrdo:pat_id_14427 603896 neant E75.2 99854 clinical subtype Cree leucoencéphalopathie Cree leukoencephalopathy Cree-Leukoenzephalopathie Leucoencefalopatia de Cree Leucoencefalopatia di Cree Leucoencefalopatía de Cree hrdo:pat_id_14429 neant G95.0 99856 clinical subtype Primary syringomyelia Siringomielia primitiva Siringomielia, primaria Siringomielia, primária Syringomyelie, primäre Syringomyélie primitive hrdo:pat_id_1443 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 271245 C535523 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=ophthalmoplegia+%28ataxia%5Bmh%5D+OR+ataxia%5Bti%5D%29+%28infant+OR+infantile%29 G11.1 1186 C1849096 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 DNA-Depletionssyndrom, mitochondriales, 7 IOSCA IOSCA IOSCA IOSCA IOSCA Oftalmoplegia - atassia - ipoacusia Oftalmoplegia - ataxia - surdez Oftalmoplejía - ataxia - hipoacusia Ohaha syndrome Ohaha, síndrome de Ohaha-Syndrom Ophtalmoplegie - Ataxie - Hypoakusis Ophtalmoplégie - hypotonie - ataxie - hypoacousie - athétose Ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis Sindrome di Ohaha Syndrome Ohaha Síndrome de Ohaha Síndrome de Ohaha Atassia spinocerebellare a esordio infantile Ataxia espinocerebelosa de início na infância Ataxia espinocerebelosa infantil Ataxie spinocérébelleuse infantile Ataxie, infantile spinozerebelläre Infantile onset spinocerebellar ataxia hrdo:pat_id_14430 neant G95.0 99857 disease Secondary syringomyelia Siringomielia secondaria Siringomielia, secundaria Siringomielia, secundária Syringomyelie, sekundäre Syringomyélie secondaire hrdo:pat_id_14431 neant G95.0 99858 disease Idiopathic syringomyelia Siringomielia idiopatica Siringomielia, idiopática Siringomielia, idiopática Syringomyelie, idiopathische Syringomyélie idiopathique hrdo:pat_id_14432 neant G95.0 99859 372477008 C1299005 disease Post-traumatic syringomyelia Siringomielia post-traumatica Siringomielia postraumática Siringomielia pós-traumática Syringomyelie, posttraumatische Syringomyélie post-traumatique hrdo:pat_id_14433 613065 613067 neant C91.0 99860 disease B-ALL B-ALL B-ALL B-ALL B-Vorläuferzell-Leukämie/Lymphom, akut lymphoblastisch LAL-B LLA-B Leucemia linfocitica acuta da precursori delle cellule B Leucemia linfocítica aguda de precursores de células B Leucemia/linfoma linfoblastica acuta da precursori delle cellule B Leucemia/linfoma linfoblástico agudo de precursores de células B Leucemia/linfoma linfocitica acuta da precursori delle cellule B Leucemia/linfoma linfocítico agudo de precursores de células B Leucémie aiguë lymphocytique à précurseurs B Leucémie/lymphome aiguë lymphoblastique à précurseurs B Leucémie/lymphome aiguë lymphocytique à précurseurs B Precursor B-cell acute lymphoblastic leukemia/lymphoma Precursor B-cell acute lymphocytic leukemia Precursor B-cell acute lymphocytic leukemia/lymphoma Leucemia linfoblastica acuta da precursori delle cellule B Leucemia linfoblástica aguda de precursores de células B Leucemia, células percussoras B linfoblásticas, aguda Leucémie aiguë lymphoblastique à précurseurs B Lymphoblastische B-Vorläuferzell-Leukämie, akute Precursor B-cell acute lymphoblastic leukemia hrdo:pat_id_14434 247640 613065 neant C91.0 99861 disease LAL-T LLA-T Leucemia linfocitica acuta da precursori delle cellule T Leucemia linfocítica aguda de precursores de células T Leucemia/linfoma linfoblastica acuta da precursori delle cellule T Leucemia/linfoma linfocitica acuta da precursori delle cellule T Leucemia/linfoma linfocítico agudo de precursores de células T Leucémie aiguë lymphocytique à précurseurs T Leucémie/lymphome aiguë lymphoblastique à précurseurs T Leucémie/lymphome aiguë lymphocytique à précurseurs T Precursor T-cell acute lymphoblastic leukemia/lymphoma Precursor T-cell acute lymphocytic leukemia Precursor T-cell acute lymphocytic leukemia/lymphoma T-ALL T-ALL T-ALL Leucemia linfoblastica acuta da precursori delle cellule T Leucemia linfoblástica aguda de precursores de células T Leucemia, células percussoras T linfoblásticas, aguda Leucémie aiguë lymphoblastique à précurseurs T Precursor T-cell acute lymphoblastic leukemia T-Vorläuferzell-Leukämie/Lymphom, akut lymphoblastisch hrdo:pat_id_14437 neant C62 99864 clinical subtype Classic seminoma Seminom, klassisches Seminoma classico Seminoma clásico Seminoma, clássico Séminome classique hrdo:pat_id_14438 neant C62 99865 9294008 C0334517 clinical subtype Seminom, spermatozytisches Seminoma espermatocítico Seminoma espermatocítico Seminoma spermatocitico Spermatocytic seminoma Séminome spermatocytaire hrdo:pat_id_14439 neant C62 99866 clinical subtype Metastatic spermatocytic seminoma Seminom, metastatisches spermatozytisches Seminoma espermatocítico metastásico Seminoma espermatocítico metastático Seminoma spermatocitico metastatico Séminome spermatocytaire métastatique hrdo:pat_id_1444 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 301835 neant E79.8 1187 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Arts syndrome Arts-Syndrom Sindrome di Arts Syndrome de Arts Atassia - atrofia ottica - sordità - letalità Ataxia - surdez - atrofia ótica (letal) Ataxia letal con sordera y atrofia óptica Ataxie - Schwerhörigkeit - Optikusatrophie, letal Ataxie - surdité - atrophie optique - létalité Lethal ataxia with deafness and optic atrophy hrdo:pat_id_14440 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 274230 D013945 10043670 neant C37 D15.0 99867 128856005 444231005 C0040100 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Neoplasia epitelial tímica primaria Neoplasia epiteliale primitiva del timo Néoplasie épithéliale thymique primitive Primary thymic epithelial neoplasm Primary thymic epithelial tumor Thymustumor, epithelialer primärer Tumeur épithéliale thymique primitive Tumor epitelial tímico primario Tumore epiteliale primitivo del timo Thymom Thymoma Thymome Timoma Timoma Timoma hrdo:pat_id_14441 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 10061031 neant C37 99868 128717008 15949004 444374006 444596001 C0205969 C1322286 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Malignant thymoma Thymom, malignes Thymome malin Timoma maligno Timoma maligno Carcinoma del timo Carcinoma tímico Carcinoma tímico Carcinome thymique Thymic carcinoma Thymuskarzinom hrdo:pat_id_14442 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant C37 99869 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CNET Carcinoma neuroendocrino del timo Carcinoma neuroendocrino tímico Carcinome neuroendocrine thymique Thymic neuroendocrine carcinoma Thymuskarzinom, neuroendokrines Tumor maligno do timo hrdo:pat_id_14443 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 246400 C538636 10024265 neant C96.0 99870 118614007 128812005 C0023381 disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Acute and disseminated Langerhans cell histiocytosis Histiocitosis de células de Langerhans aguda y diseminada Histiocytose langerhansienne aiguë et disséminée Istiocitosi acuta e disseminata a cellule di Langerhans Istiocitosi langerhansiana acuta e disseminata Langerhans-Zell-Histiozytose, akute und disseminierte Doença de Letterer-Siwe Enfermedad de Letterer-Siwe Letterer-Siwe disease Letterer-Siwe-Krankheit Maladie de Letterer-Siwe Malattia di Letterer-Siwe hrdo:pat_id_14444 D004803 10014956 neant C96.6 99871 129000002 C0014461 disease Chronic and localized Langerhans cell histiocytosis Histiocitosis de células de Langerhans crónica y localizada Histiocytose langerhansienne chronique et localisée Istiocitosi cronica e localizzata a cellule di Langerhans Langerhans-Zell-Histiozytose, chronische und lokalisierte Eosinophilic granuloma Granulom, eosinophiles Granuloma eosinofilo Granuloma eosinofílico Granuloma eosinofílico Granulome éosinophile des os hrdo:pat_id_14445 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance C535843 neant D76.0 99872 404160007 C1275336 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Congenital Langerhans cell histiocytosis Histiocitosis de células de Langerhans congénita Histiocytose langerhansienne congénitale Istiocitosi congenita a cellule di Langerhans Langerhans-Zell-Histiozytose, kongenitale Hashimoto-Pritzker syndrome Hashimoto-Pritzker-Syndrom Sindrom di Hashimoto-Pritzker Syndrome de Hashimoto-Pritzker Síndrome de Hashimoto-Pritzker Síndrome de Hashimoto-Pritzker hrdo:pat_id_14446 neant C96.5 99873 disease Chronic and multifocal Langerhans cell histiocytosis Granulom, eosinophiles multifokales Granuloma eosinofilo multifocale Granuloma eosinófilo multifocal Granulome éosinophile multifocal Histiocitosis de células de Langerhans crónica y multifocal Histiocytose langerhansienne chronique et multifocale Istiocitosi cronica e multifocale a cellule di Langerhans Langerhans-Zell-Histiozytose, chronische und multifokale Multifocal eosinophilic granuloma Doença de Hand-Schuller-Christian Enfermedad de Hand-Schüller-Christian Hand-Schüller-Christian disease Hand-Schüller-Christian'sche Erkrankung Maladie de Hand-Schüller-Christian Malattia di Hand-Schüller-Christian hrdo:pat_id_14447 neant D76.0 99874 disease Adult pulmonary Langerhans cell histiocytosis Histiocitose pulmonar das células de Langerhans, forma adulta Histiocitosis de células de Langerhans en el adulto Histiocytose langerhansienne pulmonaire de l'adulte Istiocitosi delle cellule Langerhans polmonari nell'adulto Langerhans-Zell-Histiozytose, pulmonale, des Erwachsenen hrdo:pat_id_14448 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 130060 neant Q79.6 99875 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate etiological subtype EDS 7A EDS VIIA EDS VIIA EDS VIIA EDS VIIA SED VIIA Ehlers-Danlos syndrome type 7A Ehlers-Danlos-Syndrom Typ 7A Sindrome di Ehlers-Danlos, tipo 7A Syndrome d'Ehlers-Danlos type 7A Síndrome de Ehlers-Danlos tipo 7A Síndrome de Ehlers-Danlos tipo 7A hrdo:pat_id_14449 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 130060 neant Q79.6 99876 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate etiological subtype EDS 7B EDS VIIB EDS VIIB EDS VIIB EDS VIIB SED VIIB Ehlers-Danlos syndrome type 7B Ehlers-Danlos-Syndrom Typ 7B Sindrome di Ehlers-Danlos, tipo 7B Syndrome d'Ehlers-Danlos type 7B Síndrome de Ehlers-Danlos tipo 7B Síndrome de Ehlers-Danlos tipo 7B hrdo:pat_id_1445 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 208850 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Ataxia%5Bti%5D+(deafness%5Bti%5D+OR+hearing+loss%5Bti%5D)+retardation%5Bti%5D 1188 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Reardon-Baraitser syndrome Reardon-Baraitser-Syndrom Sindrome di Reardon-Baraitser Syndrome de Reardon-Baraitser Atassia - sordità - ritardo mentale Ataxia-deafness-retardation syndrome Ataxie - Taubheit - geistige Retardierung Ataxie - surdité - déficit intellectuel Síndrome de ataxia - sordera - déficit intelectual Síndrome de ataxia - surdez - atraso mental hrdo:pat_id_14450 145000 neant E21.0 99877 disease Adenoma da paratiroide Adenoma paratiroideo Adenoma paratiroideo familar Adénome parathyroïdien familial Familial parathyroid adenoma Nebenschilddrüsenadenom, familiäres hrdo:pat_id_14451 600166 neant E21.0 99878 disease Familial parathyroids hyperplasia Hereditary parathyroids hyperplasia Hiperplasia paratiroidea familiar Hiperplasia paratiroidea hereditaria Hyperplasie familiale des parathyroïdes Hyperplasie héréditaire des parathyroïdes Iperplasia ereditaria delle paratiroidi Iperplasia familiare delle paratiroidi Nebenschilddrüsenhyperplasie, hereditäre Hiperplasia multiglandular Hiperplasia paratiroidea primaria Hyperplasie primaire des parathyroïdes Iperplasia primitiva delle paratiroidi Nebenschilddrüsenhyperplasie, primäre Primary parathyroids hyperplasia hrdo:pat_id_14452 145000 610071 neant E21.0 99879 disease FIHPT FIHPT FIHPT Familial isolated hyperparathyroidism Hiperparatiroidismo aislado familiar Hiperparatiroidismo, familiar, isolado (FIHPT) Hyperparathyreoidismus, familiär isolierter (FIHPT) Hyperparathyroïdie isolée familiale Iperparatiroidismo familiare isolato hrdo:pat_id_14453 145001 neant E21.0 99880 disease HPT-JT HPT-JT Hiperparatiroidismo - síndrome de tumor de mandíbula Hyperparathyreoidismus-Kiefertumor-Syndrom (HPT-JT) Hyperparathyroidism - jaw tumor syndrome Hyperparathyroïdie - tumeur mandibulaire Iperparatiroidismo - sindrome da tumore della mandibola Síndrome hiperparatiroidismo - tumor da mandíbula (HPT-JT) hrdo:pat_id_14458 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 606176 neant P70.2 99885 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 DNP PNDM PNDM Diabete mellito neonatale permanente (PNDM) Diabetes mellitus neonatal permanente Diabetes mellitus, neonatal, permanente Diabetes mellitus, neonataler permanenter (PNDM) Diabète néonatal permanent Permanent neonatal diabetes mellitus hrdo:pat_id_14459 601410 610374 610582 neant P70.2 99886 disease DNT TNDM TNDM Diabete mellito neonatale transitorio (TNDM) Diabetes mellitus neonatal transitoria Diabetes mellitus, neonatal, transitório (TNDM) Diabetes mellitus, neonataler transienter (TNDM) Diabète néonatal transitoire Transient neonatal diabetes mellitus hrdo:pat_id_14460 neant C94.2 99887 clinical subtype DS-AMKL DS-AMKL Leucémie aiguë mégacaryoblastique dans le syndrome de Down Acute megakaryoblastic leukemia in Down syndrome Leucemia acuta mieloide nella sindrome di Down Leucemia mieloide aguda en síndrome de Down Leucemia, mielóide, aguda, no síndrome de Down Leucémie aiguë mégacaryoblastique dans la trisomie 21 Leukämie, akute myeloische, bei Patienten mit Down-Syndrom hrdo:pat_id_14461 D018246 neant D35.0 E24.8 99888 disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Adenom, adrenokortikales Adenoma adrenocortical Adenoma adrenocortical Adenoma della corteccia surrenale Adrenocortical adenoma Adénome corticotrope hrdo:pat_id_14462 neant E24.3 99889 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Adrenocorticotropic hormone secretion syndrome Cushing-Syndrom, paraneoplastisches Ectopic ACTH secreting tumor Ectopic Cushing syndrome Occult ectopic ACTH secretion Paraneoplastic Cushing syndrome Secreción ectópica de ACTH oculta Sindrome de Cushing paraneoplásico Sindrome paraneoplastica di Cushing Syndrome de Cushing ectopique Syndrome de Cushing paranéoplasique Syndrome de production ectopique d'ACTH Syndrome de secrétion d'adrénocorticotropine Síndrome de Cushing ectópico Síndrome de secreción de la hormona adrenocorticotrópica Tumor secretor de ACTH ectópico Tumor, ACTH-sezernierender ektopischer Tumore ectopico secernente ACTH Cushing syndrome due to ectopic ACTH secretion Cushing-Syndrom, ektopisches Sindrome ectopica di Cushing Syndrome de Cushing par secrétion ectopique d'ACTH Síndrome de Cushing ectópico Síndrome de Cushing por secreción ectópica de ACTH hrdo:pat_id_14465 neant E24.0 99892 237734007 C0342442 group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown ACTH-dependent CS Adrenocorticotropic hormone-dependent Cushing syndrome CS ACTH-dependiente Corticotropin-dependent Cushing syndrome Syndrome de Cushing dépendant de l'adrénocorticotropine Síndrome de Cushing dependiente de corticotropina Síndrome de Cushing dependiente de la hormona adrenocorticotropa ACTH-dependent Cushing syndrome Cushing-Syndrom, ACTH-abhängiges Sindrome di Cushing ACTH-dipendente Syndrome de Cushing dépendant de l'ACTH Síndrome de Cushing dependente de ACTH Síndrome de Cushing dependiente de ACTH hrdo:pat_id_14466 neant E24.8 99893 group of phenomes Adrenal Cushing syndrome Adrenocorticotropic hormone-independent Cushing syndrome Corticotropin-independent Cushing syndrome Syndrome de Cushing indépendant de l'adrénocorticotropine Síndrome de Cushing independiente de corticotropina Síndrome de Cushing independiente de la hormona adrenocorticotropa Síndrome de Cushing suprarrenal ACTH-independent Cushing syndrome Cushing-Syndrom, ACTH-unabhängiges Sindrome di Cushing non ACTH-dipendente Syndrome de Cushing indépendant de l'ACTH Síndrome de Cushing independente de ACTH Síndrome de Cushing no dependiente de ACTH hrdo:pat_id_1447 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 108720 C535396 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Atelosteogenesis+%28type+1%5Btw%5D+OR+type+i%5Btw%5D%29+OR+giant+cell+chondrodysplasia+OR+spondylo+humero+femoral+hypoplas* Q78.8 1190 C0265283 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Chondrodysplasie à cellules géantes Condrodisplasia a cellule giganti Condrodisplasia de células gigantes Condrodisplasia de células gigantes Displasia espondilo-humero-femoral Displasia espondilo-humero-femoral Displasia spondilo-omero-femorale Dysplasie spondylo-huméro-fémorale Dysplasie, spondylo-humero-femorale Giant cell chondrodysplasia Riesenzellchondrodysplasie Spondylo-humero-femoral dysplasia Atelosteogenesi 1 Atelosteogenesis I Atelosteogenesis I Atelosteogénese I Atelosteogénesis tipo 1 Atélostéogenèse type 1 hrdo:pat_id_14471 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance C535530 neant A31.9 99898 C2930924 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown MSMD due to complete IFNgammaR1 deficiency MSMD due to complete interferon gamma receptor 1 deficiency MSMD par déficit complet d'IFNgammaR1 MSMD par déficit complet en récepteur 1 de l'interféron gamma MSMD por déficit completo de IFNgammaR1 MSMD por déficit completo del receptor 1 del interferón-gamma Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency Prédisposition mendélienne aux infections mycobactériennes par déficit complet en récepteur 1 de l'interféron gamma Susceptibilidad mendeliana a enfermedades micobacterianas por déficit completo del receptor 1 del interferón-gamma Deficit del recettore 1 dell'interferone gamma Deficiência de interferão gama, recetor 1 Interferon-Gamma-Rezeptor 1-Mangel Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency Prédisposition mendélienne aux infections mycobactériennes par déficit complet d'IFNgammaR1 Susceptibilidad mendeliana a enfermedades micobacterianas por déficit completo de IFNgammaR1 hrdo:pat_id_14473 201475 C535690 neant E71.3 99900 237996001 C0220711 disease LCAD Deficiência de acil-CoA desidrogenase de cadeia longa Déficit en acyl-CoA déhydrogénase à longue chaine LCAD LCAD Langketten-Acyl-CoA-Dehydrogenase-Mangel Long chain acyl-CoA dehydrogenase deficiency hrdo:pat_id_14474 611126 neant E71.3 99901 disease ACAD9 Acyl-CoA dehydrogenase 9 deficiency Acyl-CoA-Dehydrogenase 9-Mangel Deficit di acil-CoA deidrogenasi, tipo 9 Deficiência de acil-CoA desidrogenase 9 Déficit de acil-CoA deshidrogenasa 9 Déficit en Acyl-CoA déshydrogénase 9 hrdo:pat_id_14476 neant A25.0 99903 etiological subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Sodoku Sodoku Sodoku Sodoku Sodoku Febbre spirillare da morso di ratto Febre de mordedura da ratazana, espirilar Fiebre espirilar por mordedura de rata Spirillary rat-bite fever Spirillen-Rattenbissfieber Spirillose due aux morsures de rat hrdo:pat_id_14478 neant A25.1 99905 etiological subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Estreptobacilose Estreptobacilosis por mordedura de rata Febbre streptobacillare da morso di ratto Streptobacillary rat-bite fever Streptobacillose due aux morsures de rat Streptobacillus-Rattenbissfieber hrdo:pat_id_14479 D005203 10016221 neant J67.0 99906 18690003 C0015634 disease Doença do pulmão do fazendeiro Enfermedad del pulmón del granjero Farmer's lung disease Farmerlunge Maladie du poumon du fermier Malattia del polmone del fattore hrdo:pat_id_14480 neant J67.8 99907 disease Allergische Wohnungs-Alveolitis Alveolite allergica domestica Alveolite alérgica doméstica Alveolitis alérgica doméstica Alvéolite allergique domestique House allergic alveolitis hrdo:pat_id_14481 D001716 neant J67.2 99908 85407005 C0031903 disease Bird fancier's lung Maladie du poumon d'éleveur d'oiseaux Pigeon-breeder's lung disease Polmone da allevatore di uccelli Pulmão do criador de pombos, doença Pulmón del criador de pájaros Vogelzüchterlunge hrdo:pat_id_14482 99909 group of phenomes Alveolite allergica professionale Alveolite alérgica ocupacional Alveolitis alérgica profesional Alveolitis, allergische berufsbedingte Alvéolite allergique professionnelle Occupational allergic alveolitis hrdo:pat_id_14485 neant C56 99912 disease Cancer germinal dysgerminomateux Cancro disgerminale a cellule germinali Dysgerminomatous germ cell cancer Tumor de células germinales disgerminomatoso Keimzelltumor, dysgerminomatöser maligner Malignant dysgerminomatous germ cell tumor Tumeur germinale dysgerminomateuse maligne Tumor de células germinais, desgerminoma Tumor maligno de células germinales disgerminomatoso Tumore disgerminale maligno a cellule germinali hrdo:pat_id_14486 99913 group of phenomes Keimzelltumor, nicht-dysgerminomatöser Nondysgerminomatous germ cell tumor Tumeur germinale non-dysgerminomateuse Tumor de células germinais, não-disgerminoma Tumor de células germinales no disgerminomatoso Tumore nondisgerminale delle cellule germinali hrdo:pat_id_14487 neant C56 99914 26735007 C0018413 disease Ginandroblastoma Ginandroblastoma Ginandroblastoma Gynandroblastom Gynandroblastoma Gynandroblastome hrdo:pat_id_14488 D006106 neant C56 99915 18861007 C0334401 C1567257 disease Cancer de la granulosa Cancro delle cellule della granulosa Granulosa cell cancer Granulosazellkarzinom Tumor de células de la granulosa Granulosa cell malignant tumor Granulosazelltumor, maligner Tumeur maligne de la granulosa Tumor de células granulosas Tumor maligno de células de la granulosa Tumore maligno delle cellule della granulosa hrdo:pat_id_14489 138800 neant C56 99916 disease Androblastom Androblastoma Androblastoma Androblastoma Androblastome Arrenoblastoma Arrenoblastoma Arrhenoblastom Arrhenoblastoma Arrhénoblastome Cancer de Sertoli-Leydig de l'ovaire Cancro ovarico a cellule Sertoli-Leydig Cáncer de células de Sertoli-Leydig del ovario Ovarialtumor, virilisierender Ovarian Sertoli-Leydig cell cancer Tumeur virilisante de l'ovaire Tumor ovárico virilizante Tumore ovarico virilizzante Virilizing ovarian tumor Ovarian malignant Sertoli-Leydig cell tumor Sertoli-Leydig-Zell-Tumor, maligner ovarieller Tumeur maligne de Sertoli-Leydig de l'ovaire Tumor de células de Sertoli-Leydig del ovario Tumor ovárico de células de Sertoli-Leydig Tumore ovarico maligno a cellule di Sertoli-Leydig hrdo:pat_id_1449 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300431 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=ATKIN%5BAll+Fields%5D+FLAITZ%5BAll+Fields%5D+syndrome Q87.8 1193 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Déficit intellectuel lié à l'X type Atkin Geistige Retardierung, X-chromosomale, Typ Atkin Ritardo mentale legato all'X, tipo Atkin X-linked intellectual deficit, Atkin type Atkin-Flaitz syndrome Atkin-Flaitz-Syndrom Sindrome di Atkin-Flaitz Syndrome de Atkin-Flaitz Síndrome de Atkin-Flaitz Síndrome de Atkin-Flaitz-Patil-Smith hrdo:pat_id_14490 neant C56 99917 disease Cancer à cellules stéroïdiennes sans autre précision Cancro delle cellule della teca (steroido-producenti), non altrimenti specificato Theca (steroid-producing) cell cancer, not further specified Tumor de células de la teca (productoras de esteroides), sin más especificaciones Theca steroid-producing cell malignant tumor, not further specified Thekazelltumor (Steroid-produzierender), nicht klassifizierter Tumeur maligne à cellules stéroïdiennes sans autre précision Tumor de células da teca (produtor de esteróides), não especificado Tumor maligno de células de la teca (productoras de esteroides), sin más especificaciones Tumore maligno delle cellule della teca (steroido-producenti) non altrimenti specificato hrdo:pat_id_14491 10044251 neant A48.3 99918 240451000 C0343532 etiological subtype SCT streptococcique Streptococcal TSS Streptokokken-TSS Síndrome de shock tóxico por estreptococos TSS da Streptococco TSS por estreptococos Sindrome dello shock tossico da Streptococco Streptococcal toxic-shock syndrome Syndrome du choc toxique streptococcique Síndrome de choque tóxico estreptocócico Síndrome de choque tóxico por estreptococos Toxisches Schock-Syndrom, Streptokokken-induziertes hrdo:pat_id_14492 10044250 neant A48.3 99919 240450004 etiological subtype SCT staphylococcique Staphylococcal TSS Staphylokokken-TSS Síndrome de shock tóxico por estafilococos TSS da Stafilococco TSS por estafilococos Sindrome dello shock tossico da Stafilococco Staphylococcal toxic-shock syndrome Syndrome du choc toxique staphylococcique Síndrome de choque tóxico estafilocócico Síndrome de choque tóxico por estafilococos Toxisches Schock-Syndrom, Staphylokokken-induziertes hrdo:pat_id_14493 10066260 neant T86.0 99920 402355000 clinical subtype Acute graft versus host disease Doença enxerto versus hospedeiro, aguda Enfermedad injerto versus huésped, aguda Graft versus host-Krankheit, akute Maladie aiguë du greffon contre l'hôte Malattia acuta del trapianto contro l'ospite hrdo:pat_id_14494 D006086 10066261 neant T86.0 99921 402356004 C0867389 clinical subtype Chronic graft versus host disease Doença enxerto versus hospedeiro, crónica Enfermedad injerto versus huésped, crónica Graft versus host-Krankheit, chronische Maladie chronique du greffon contre l'hôte Malattia cronica del trapianto contro l'ospite hrdo:pat_id_14495 10067776 neant H13.3* L12+ 99922 disease Ocular pemphigoid Pemfigoide oculare Pemphigoid, okuläres Pemphigoïde oculaire Penfigóide ocular Pénfigoide ocular hrdo:pat_id_14498 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant D39.2 99925 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Invasive Mole Invasive mole Mola invasiva Mola invasiva Mola invasiva Môle invasive hrdo:pat_id_14499 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant C58 99926 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Choriocarcinome gestationnel Chorionkarzinom Coriocarcinoma Coriocarcinoma gestacional Coriocarcinoma gestazionale Gestational choriocarcinoma hrdo:pat_id_145 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 194050 D018980 10049644 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22williams+syndrome%22%5BMeSH+Terms%5D+OR+%28Williams+syndrome%5BText+Word%5D+NOT+medline%5Bsb%5D%29 Q87.8 904 63247009 C0175702 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deletion 7q11.23 Delezione 7q11.23 Délétion 7q11.23 Monosomia 7q11.23 Monosomie 7q11.23 Monosomy 7q11.23 Sindrome di Williams-Beuren Syndrome de Williams-Beuren Síndrome de Williams-Beuren Síndrome de Williams-Beuren Williams-Beuren syndrome Williams-Beuren, síndrome de Williams-Beuren-Syndrom Sindrome di Williams Syndrome de Williams Síndrome de Williams Síndrome de Williams Williams syndrome Williams-Syndrom hrdo:pat_id_1450 303650 Q42.9 1198 morphological anomaly Atresia de colon Atresia del colon Atresia do cólon Atrésie colique Colonic atresia Kolon-Atresie hrdo:pat_id_14500 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 231090 D006828 10020481 neant O01 99927 48430004 C0020217 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Embarazo molar Gravidanza molare Grossesse môlaire Molar pregnancy Blasenmole Hydatidiform mole Mola hidatidiforme Mola hidatiforme Mola idatiforme Môle hydatiforme hrdo:pat_id_14501 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D018245 neant D39.2 99928 237252008 75320001 C0206666 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 PSST Trophoblastentumor am Plazentaansatz Tumeur trophoblastique placentaire Placental site trophoblastic tumor Plazentabett-Tumor (PSST) Tumeur du site d'implantation Tumor trofoblástico del sitio placentario Tumor trofoblástico do local da placenta (PSST) Tumore trofoblastico della placenta hrdo:pat_id_14503 neant E83.1+ J99.8* 99930 disease Emosiderosi polmonare secondaria Hemosiderosis pulmonar secundaria Hemossiderose pulmonar, secundária Hämosiderose, pulmonale, sekundäre Hémosidérose pulmonaire secondaire Secondary pulmonary hemosiderosis hrdo:pat_id_14504 178550 235500 C536281 neant E83.1+ J99.8* 99931 40527005 C0020807 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Emosiderosi polmonare idiopatica Hemosiderosis pulmonar idiopática Hemossiderose pulmonar, idiopática Hämosiderose, pulmonale, idiopathische Hémosidérose pulmonaire idiopathique Idiopathic pulmonary hemosiderosis hrdo:pat_id_14505 neant E83.1+ J99.8* 99932 clinical subtype Cow's milk hypersensitivity Hipersensibilidad a la leche de vaca Hypersensibilité aux protéines du lait de vache Ipersensibilità al latte di mucca Kuhmilch-Hypersensitivität Heiner syndrome Heiner-Syndrom Sindrome di Heiner Syndrome de Heiner Síndrome de Heiner Síndrome de Heiner (hipersensibilidade ao leite de vaca) hrdo:pat_id_14506 neant C34 99933 clinical subtype Blastom, pleuro-pulmonales, Typ I Blastoma pleuro-polmonare, tipo 1 Blastoma pleuro-pulmonar tipo I Blastoma pleuropulmonar, tipo I Blastome pleuro-pulmonaire type 1 Pleuro-pulmonary blastoma type I hrdo:pat_id_14507 neant C34 99934 clinical subtype Blastom, pleuro-pulmonales, Typ II Blastoma pleuro-polmonare, tipo 2 Blastoma pleuro-pulmonar tipo II Blastoma pleuropulmonar, tipo II Blastome pleuro-pulmonaire type 2 Pleuro-pulmonary blastoma type II hrdo:pat_id_14508 neant C34 99935 clinical subtype Blastom, pleuro-pulmonales, Typ III Blastoma pleuro-polmonare, tipo 3 Blastoma pleuro-pulmonar tipo III Blastoma pleuropulmonar, tipo III Blastome pleuro-pulmonaire type 3 Pleuro-pulmonary blastoma type III hrdo:pat_id_14509 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 600882 neant G60.0 99936 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease CMT2B CMT2B CMT2B CMT2B CMT2B Autosomal dominant Charcot-Marie-Tooth disease type 2B Charcot-Marie-Tooth tipo 2B, autosómica dominante Charcot-Marie-Tooth-Krankheit Typ 2B Doença de Charcot-Marie-Tooth tipo 2B, autossómica dominante Maladie de Charcot-Marie-Tooth autosomique dominante type 2B Malattia di Charcot-Marie-Tooth, autosomica dominante, tipo 2B hrdo:pat_id_1451 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 608572 neant Q87.8 1200 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Burn-Goodship-Syndrom Burn-McKeown syndrome Sindrome di Burn-McKeown Syndrome de Burn-McKeown Síndrome de Burn-Goodship Atresia da coanas - surdez - cardiopatia - dismorfias Atresia de coanas - sordera - cardiopatía Atresia delle coane - sordità - cardiopatia Atrésie des choanes - surdité - cardiopathie Choanal atresia - deafness - cardiac defects - dysmorphism Choanalatresie - Taubheit - Herzfehler - Dysmorphien hrdo:pat_id_14510 606071 neant G60.0 99937 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease CMT2C CMT2C CMT2C Autosomal dominant Charcot-Marie-Tooth disease type 2C Charcot-Marie-Tooth-Krankheit Typ 2C Doença de Charcot-Marie-Tooth tipo 2C, autossómica dominante Enfermedad de Charcot-Marie-Tooth tipo 2C autosómica dominante Maladie de Charcot-Marie-Tooth autosomique dominante type 2C Malattia di Charcot-Marie-Tooth, autosomica dominante, tipo 2C hrdo:pat_id_14511 Variabel Variabile Variable Variable Variable Variable Variável 601472 neant G60.0 99938 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease CMT2D CMT2D CMT2D Autosomal dominant Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth-Krankheit Typ 2D Doença de Charcot-Marie-Tooth tipo 2D, autossómica dominante Enfermedad de Charcot-Marie-Tooth tipo 2D autosómica dominante Maladie de Charcot-Marie-Tooth autosomique dominante type 2D Malattia di Charcot-Marie-Tooth, autosomica dominante, tipo 2D hrdo:pat_id_14512 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 607684 neant G60.0 99939 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease CMT2E CMT2E CMT2E CMT2E Autosomal dominant Charcot-Marie-Tooth disease type 2E Charcot-Marie-Tooth tipo 2E, autosómica dominante Charcot-Marie-Tooth-Krankheit Typ 2E Doença de Charcot-Marie-Tooth tipo 2E, autossómica dominante Maladie de Charcot-Marie-Tooth autosomique dominante type 2E Malattia di Charcot-Marie-Tooth, autosomica dominante, tipo 2E hrdo:pat_id_14513 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 606595 neant G60.0 99940 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CMT2F CMT2F CMT2F CMT2F Autosomal dominant Charcot-Marie-Tooth disease type 2F Charcot-Marie-Tooth tipo 2F, autosómica dominante Charcot-Marie-Tooth-Krankheit Typ 2F Doença de Charcot-Marie-Tooth tipo 2F, autossómica dominante Maladie de Charcot-Marie-Tooth autosomique dominante type 2F Malattia di Charcot-Marie-Tooth, autosomica dominante, tipo 2F hrdo:pat_id_14514 Variabel Variabile Variable Variable Variable Variable Variável 608591 neant G60.0 99941 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CMT2G CMT2G CMT2G CMT2G Autosomal dominant Charcot-Marie-Tooth disease type 2G Charcot-Marie-Tooth tipo 2G, autosómica dominante Charcot-Marie-Tooth-Krankheit Typ 2G Doença de Charcot-Marie-Tooth tipo 2G, autossómica dominante Maladie de Charcot-Marie-Tooth autosomique dominante type 2G Malattia di Charcot-Marie-Tooth, autosomica dominante, tipo 2G hrdo:pat_id_14515 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 607677 neant G60.0 99942 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease CMT2I CMT2I CMT2I Autosomal dominant Charcot-Marie-Tooth disease type 2I Charcot-Marie-Tooth-Krankheit Typ 2I Doença de Charcot-Marie-Tooth tipo 2I, autossómica dominante Enfermedad de Charcot-Marie-Tooth tipo 2l, autosómica dominante Maladie de Charcot-Marie-Tooth autosomique dominante type 2I Malattia di Charcot-Marie-Tooth, autosomica dominante, tipo 2I hrdo:pat_id_14516 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 607736 neant G60.0 99943 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease CMT2J CMT2J CMT2J Autosomal dominant Charcot-Marie-Tooth disease type 2J Charcot-Marie-Tooth-Krankheit Typ 2J Doença de Charcot-Marie-Tooth tipo 2J, autossómica dominante Enfermedad de Charcot-Marie-Tooth tipo 2J, autosómica dominante Maladie de Charcot-Marie-Tooth autosomique dominante type 2J Malattia di Charcot-Marie-Tooth, autosomica dominante, tipo 2J hrdo:pat_id_14517 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 607831 neant G60.0 99944 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CMT2K CMT2K CMT2K CMT2K CMT2K Autosomal dominant Charcot-Marie-Tooth disease type 2K Charcot-Marie-Tooth tipo 2K, autosómica dominante Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2K Doença de Charcot-Marie-Tooth tipo 2K, autossómica dominante Maladie de Charcot-Marie-Tooth autosomique dominante type 2K Malattia di Charcot-Marie-Tooth, autosomica dominante, tipo 2K hrdo:pat_id_14518 608673 neant G60.0 99945 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CMT2L CMT2L CMT2L CMT2L Autosomal dominant Charcot-Marie-Tooth disease type 2L Charcot-Marie-Tooth tipo 2L, autosómica dominante Charcot-Marie-Tooth-Krankheit Typ 2L Doença de Charcot-Marie-Tooth tipo 2L, autossómica dominante Maladie de Charcot-Marie-Tooth autosomique dominante type 2L Malattia di Charcot-Marie-Tooth, autosomica dominante, tipo 2L hrdo:pat_id_14519 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 118210 neant G60.0 99946 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease CMT2A1 CMT2A1 CMT2A1 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 Charcot-Marie-Tooth-Krankheit Typ 2A1 Doença de Charcot-Marie-Tooth tipo 2A1, autossómica dominante Enfermedad de Charcot-Marie-Tooth tipo 2A1, autosómica dominante Maladie de Charcot-Marie-Tooth autosomique dominante type 2A1 Malattia di Charcot-Marie-Tooth, autosomica dominante, tipo 2A1 hrdo:pat_id_1452 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 223400 C535720 10013812 Q41.0 1203 51118003 C0266174 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Atresia duodenal Atresia duodenal Atresia duodenale Atrésie duodénale Duodenal atresia Duodenalatresie hrdo:pat_id_14520 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 609260 neant G60.0 99947 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease CMT2A2 CMT2A2 CMT2A2 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 Charcot-Marie-Tooth-Krankheit Typ 2A2 Doença de Charcot-Marie-Tooth tipo 2A2, autossómica dominante Enfermedad de Charcot-Marie-Tooth tipo 2A2 autosómica dominante Maladie de Charcot-Marie-Tooth autosomique dominante type 2A2 Malattia di Charcot-Marie-Tooth, autosomica dominante, tipo 2A2 hrdo:pat_id_14521 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 214400 C535419 neant G60.0 99948 C1859198 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CMT4A CMT4A CMT4A CMT4A Charcot-Marie-Tooth disease type 4A Charcot-Marie-Tooth-Krankheit Typ 4A Doença de Charcot-Marie-Tooth tipo 4A Enfermedad de Charcot-Marie-Tooth tipo 4A Maladie de Charcot-Marie-Tooth type 4A Malattia di Charcot-Marie-Tooth, tipo 4A hrdo:pat_id_14522 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 601596 C535423 neant G60.0 99949 C1866636 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CMT4C CMT4C CMT4C CMT4C Charcot-Marie-Tooth disease type 4C Charcot-Marie-Tooth-Krankheit Typ 4C Doença de Charcot-Marie-Tooth tipo 4C Enfermedad de Charcot-Marie-Tooth tipo 4C Maladie de Charcot-Marie-Tooth type 4C Malattia di Charcot-Marie-Tooth, tipo 4C hrdo:pat_id_14523 601455 C535716 neant G60.0 99950 C1832334 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CMT4D CMT4D CMT4D Hereditary motor and sensory neuropathy, Lom type Neuropathie sensitivo-motrice familiale type Lom Neuropathie, hereditäre motorisch-sensorische, Typ Lom Neuropatia sensitivo-motoria ereditaria, tipo Lom Charcot-Marie-Tooth disease type 4D Charcot-Marie-Tooth-Krankheit Typ 4D Doença de Charcot-Marie-Tooth tipo 4D Enfermedad de Charcot-Marie-Tooth tipo 4D Maladie de Charcot-Marie-Tooth type 4D Malattia di Charcot-Marie-Tooth, tipo 4D hrdo:pat_id_14524 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 605253 neant G60.0 99951 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Autosomal recessive congenital hypomyelinating neuropathy CMT4E CMT4E CMT4E Hypomyelinisationsneuropathie, kongenitale Neuropathie hypomyélinisante congénitale autosomique révessive Neuropatia ipomielinizzante congenita, autosomica recessiva Charcot-Marie-Tooth disease type 4E Charcot-Marie-Tooth-Krankheit Typ 4E Doença de Charcot-Marie-Tooth tipo 4E Enfermedad de Charcot-Marie-Tooth tipo 4E Maladie de Charcot-Marie-Tooth type 4E Malattia di Charcot-Marie-Tooth, tipo 4E hrdo:pat_id_14525 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 614895 neant G60.0 99952 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CMT4F CMT4F CMT4F CMT4F CMT4F Charcot-Marie-Tooth disease type 4F Charcot-Marie-Tooth tipo 4F Charcot-Marie-Tooth-Krankheit Typ 4F Doença de Charcot-Marie-Tooth tipo 4F Maladie de Charcot-Marie-Tooth type 4F Malattia di Charcot-Marie-Tooth, tipo 4F hrdo:pat_id_14526 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 605285 neant G60.0 99953 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CMT4G CMT4G CMT4G CMT4G HMSNR Hereditary motor and sensory neuropathy, Russe Type Neuropathie sensitivo-motrice familiale type Russe Neuropathie, hereditäre motorisch-sensorische, Typ Russe Neuropatia sensitivo-motoria ereditaria, tipo Russe Charcot-Marie-Tooth disease type 4G Charcot-Marie-Tooth tipo 4G Charcot-Marie-Tooth-Krankheit Typ 4G Doença de Charcot-Marie-Tooth tipo 4G Maladie de Charcot-Marie-Tooth type 4G Malattia di Charcot-Marie-Tooth, tipo 4G hrdo:pat_id_14527 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 609311 neant G60.0 99954 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CMT4H CMT4H CMT4H CMT4H CMT4H Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth tipo 4H Charcot-Marie-Tooth-Krankheit Typ 4H Doença de Charcot-Marie-Tooth tipo 4H Maladie de Charcot-Marie-Tooth type 4H Malattia di Charcot-Marie-Tooth, tipo 4H hrdo:pat_id_14528 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601382 C535420 neant G60.0 99955 C1832399 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CMT4B1 CMT4B1 CMT4B1 CMT4B1 CMT4B1 Charcot-Marie-Tooth disease type 4B1 Charcot-Marie-Tooth tipo 4B1 Charcot-Marie-Tooth-Krankheit Typ 4B1 Doença de Charcot-Marie-Tooth tipo 4B1 Maladie de Charcot-Marie-Tooth type 4B1 Malattia di Charcot-Marie-Tooth, tipo 4B1 hrdo:pat_id_14529 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 604563 C535421 neant G60.0 99956 C1858278 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CMT4B2 CMT4B2 CMT4B2 CMT4B2 CMT4B2 Charcot-Marie-Tooth disease type 4B2 Charcot-Marie-Tooth tipo 4B2 Charcot-Marie-Tooth-Krankheit Typ 4B2 Doença de Charcot-Marie-Tooth tipo 4B2 Maladie de Charcot-Marie-Tooth type 4B2 Malattia di Charcot-Marie-Tooth, tipo 4B2 hrdo:pat_id_14533 243300 neant K83.1 99960 clinical subtype BRIC type 1 BRIC type 1 BRIC1 BRIC1 Benign recurrent intrahepatic cholestasis type 1 Cholestase intra-hépatique récurrente bénigne type 1 Cholestase, benigne intrahepatische, Typ 1 Colestase intrahepática benigna, tipo 1 Colestasi intraepatica benigna, tipo 1 Colestasis intrahepática benigna tipo 1 hrdo:pat_id_14534 605479 neant K83.1 99961 clinical subtype BRIC type 2 BRIC type 2 BRIC2 BRIC2 Benign recurrent intrahepatic cholestasis type 2 Cholestase intra-hépatique récurrente bénigne type 2 Cholestase, benigne intrahepatische, Typ 2 Colestase intrahepática benigna, tipo 2 Colestasi intraepatica benigna, tipo 2 Colestasis intrahepática benigna tipo 2 hrdo:pat_id_14538 10069682 neant G12.8 99965 C2721741 clinical subtype O'Sullivan-McLeod syndrome O'Sullivan-McLeod-Syndrom Sindrome di O'Sullivan-McLeod Syndrome d'O'Sullivan-McLeod Síndrome de O'Sullivan-McLeod Síndrome de O'Sullivan-McLeod hrdo:pat_id_14539 609322 neant 99966 clinical subtype Atypical teratoid tumor Tumeur tératoïde atypique Tumor teratoide atípico Tumor teratóide, atípico Tumor, atypischer teratoider Tumore teratoide atipico hrdo:pat_id_14540 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 613488 D018208 neant C49 99967 27849002 404069006 C0206634 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch histopathological subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown MRCLS MRCLS MRCLS Liposarcoma mixoide Liposarcoma mixoide/de células redondas Liposarcome myxoïde/à cellules rondes Liposarkom, myxoides Lipossarcoma mixóide Myxoid/round cell liposarcoma hrdo:pat_id_14541 neant C49 99968 404070007 43296007 C0334471 Liposarcoma a cellule rotonde Liposarcoma de células redondas Liposarcome à cellules rondes Liposarkom, rundzelliges Lipossarcoma de células redondas Round-cell liposarcoma hrdo:pat_id_14542 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant C49 99969 112683004 404071006 C0205825 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch histopathological subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown PLS PLS Liposarcoma pleiomorfo Liposarcoma pleomórfico Liposarcome pléiomorphe Liposarkom, pleomorphes Lipossarcoma pleomórfico Pleomorphic liposarcoma hrdo:pat_id_14543 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant C49 99970 404072004 67280001 C0205824 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch histopathological subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown DDLS DDLS DDLS Dedifferentiated liposarcoma Liposarcoma desdiferenciado Liposarcoma differenziato Liposarcome dédifférencié Liposarkom, dedifferenziertes Lipossarcoma com perda de diferenciação hrdo:pat_id_14544 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant C49 99971 28655007 C1370889 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch histopathological subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown ALT ALT ALT Atypical lipoma Atypical lipomatous tumor Lipoma atípico Lipome atypique Tumeur lipomateuse atypique Tumor lipomatoso atípico WDLS WDLS WDLS Liposarcoma ben differenziato Liposarcoma bien diferenciado Liposarcome bien différencié Liposarkom, hochdifferenziertes Lipossarcoma bem diferenciado Well-differentiated liposarcoma hrdo:pat_id_14545 neant D80.2 99972 234551007 C0398706 disease Deficit di IgA1 Déficit de IgA1 Déficit en IgA1 IgA1 deficiency IgA1-Mangel Deficit di immunoglobulina A1 Deficiência de imunoglobulina A1 (IgA1) Déficit de inmunoglobulina A1 Déficit en immunoglobuline A1 Immunoglobulin A1 deficiency Immunoglobulin A1-Mangel hrdo:pat_id_14546 neant D80.2 99973 234552000 C0398707 disease Deficit di IgA2 Déficit de IgA2 Déficit en IgA2 IgA2 deficiency IgA2-Mangel Deficit di immunoglobulina A2 Deficiência de imunoglobulina A2 (IgA2) Déficit de inmunoglobulina A2 Déficit en immunoglobuline A2 Immunoglobulin A2 deficiency Immunoglobulin A2-Mangel hrdo:pat_id_14547 neant D80.2 99974 clinical subtype Deficit selettivo di IgA TACI-associato Deficiência seletiva de IgA relacionada com TACI Déficit selectivo de IgA, relacionado con TACI Déficit sélectif en IgA lié au gène TACI IgA-Mangel, selektiver, TACI-abhängiger TACI-related selective deficiency of IgA hrdo:pat_id_14549 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 614266 neant C15 99976 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown histopathological subtype 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Adenocarcinoma esofageo Adenocarcinoma esofágico Adenocarcinoma esofágico Adenokarzinom, ösophageales Adénocarcinome de l'oesophage Esophageal adenocarcinoma hrdo:pat_id_1455 265150 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Pulmonary+atresia+(intact+heart+septum+OR+intact+ventricular+septum%5Btw%5D) Q22.6 1208 253590009 C0344975 morphological anomaly Atresia polmonare - setto ventricolare integro Atresia pulmonar septo ventricular intacto Atresia pulmonar, septo ventricular íntegro Atrésie pulmonaire - septum ventriculaire intact Pulmonalatresie mit intaktem Ventrikelseptum Pulmonary atresia - intact ventricular septum hrdo:pat_id_14550 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 133239 neant C15 99977 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown histopathological subtype 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Plattenepithelkarzinom des Ösophagus Carcinoma das células escamosas esofágicas Carcinoma de células escamosas del esófago Carcinoma esofageo a cellule squamose Carcinome épidermoïde de l'oesophage Esophageal squamous cell carcinoma Karzinom, ösophageales squamöses hrdo:pat_id_14551 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D018285 neant C22.1 99978 253017000 6492006 C0206702 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 CCA hilaire CCA hiliar CCA ilare Cholangiocarcinome hilaire Cholangiokarzinom, hiläres Colangiocarcinoma hiliar Colangiocarcinoma ilare Hilar CCA Hilar cholangiocarcinoma Hiläres CCA Klatskin tumor Klatskin-Tumor Tumeur de Klatskin Tumor de Klatskin Tumor de Klatskin Tumore di Klatskin hrdo:pat_id_14554 neant P28.4 99981 276544005 C0475715 clinical subtype Apnea de la prematuridad Apnea del prematuro (AOP) Apnea of prematurity Apneia da prematuridade (AOP) Apnée du prématuré Frühgeborenen-Apnoe (AOP) hrdo:pat_id_14556 neant B87.0 99983 240877000 C0027031 group of phenomes Cutaneous myiasis Miasi cutanea Miasis cutánea Miiase cutânea Myiase cutanée Myiasis, kutane hrdo:pat_id_14558 115210 neant I42.5 99985 etiological subtype Cardiomiopatía restrictiva familiar tipo 1 Cardiomiopatia restrittiva familiare, tipo 1 Cardiomyopathie restrictive familiale type 1 Familial restrictive cardiomyopathy type 1 Kardiomyopathie, restriktive, familiäre, Typ 1 Miocardiopatia restritiva, familiar, tipo 1 Miocardiopatía restrictiva familiar tipo 1 hrdo:pat_id_14559 609578 neant I42.5 99986 etiological subtype Cardiomiopatía restrictiva familiar tipo 2 Cardiomiopatia restrittiva familiare, tipo 2 Cardiomyopathie restrictive familiale type 2 Familial restrictive cardiomyopathy type 2 Kardiomyopathie, restriktive, familiäre, Typ 2 Miocardiopatia restritiva, familiar, tipo 2 Miocardiopatía restrictiva familiar tipo 2 hrdo:pat_id_14560 neant Q87.8 99987 clinical subtype Anoftalmia - sindrome esofagea-genitale Anoftalmia - síndrome esofágico-genital Anophtalmie - syndrome oeso-génital Anophthalmia - esophageal-genital syndrome Anophthalmie - oesophageal-genitales-Syndrom Síndrome anoftalmia - esofágico-genital hrdo:pat_id_14562 99989 clinical subtype Intermediate DEND syndrome Intermediäres DEND-Syndrom Sindrome DEND intermedia Syndrome DEND intermédiaire Síndrome DEND intermédio Síndrome intermedio DEND hrdo:pat_id_14563 neant A75.1 99990 47761007 clinical subtype Brill-Zinsser disease Brill-Zinsser-Krankheit Doença de Brill-Zinsser Enfermedad de Brill-Zinsser Maladie de Brill-Zinsser Malattia di Brill-Zinsser hrdo:pat_id_14564 neant A75.0 99991 clinical subtype Fleckfieber, epidemisches rezidivierendes Relapsing epidemic thyphus Thyphus épidémique récidivant Tifo epidémico recorrente Tifo ricorrente epidemico Tifus epidémico reincidente hrdo:pat_id_14567 10064335 neant G56.4 99994 clinical subtype Causalgia Causalgia Causalgia Causalgia Causalgie Complex regional pain syndrome type 2 Komplexes regionales Schmerzsyndrom Typ 2 Sindrome del dolore regionale complesso, tipo 2 Síndrome de dolor regional complejo tipo 2 hrdo:pat_id_14568 604335 10064334 neant M89.0 99995 clinical subtype Algodistrofia Algodistrofia Algodystrophie Algodystrophy Distrofia simpatetica riflessa Distrofia simpática refleja Dystrophie sympathique réflexe Reflex sympathetic dystrophy Sympathische Reflexdystrophie Algodistrofia Algodystrophie Complex regional pain syndrome type 1 Komplexes regionales Schmerzsyndrom Typ 1 Sindrome del dolore regionale complesso, tipo 1 Síndrome de dolor regional complejo tipo 1 hrdo:pat_id_1457 1211 disease Atrichia - mental and growth delay Atrichia - ritardo mentale e staturoponderale Atrichie - geistige Retardierung - Wachstumsverzögerungen Atrichie - retards mental et staturo-pondéral Atriquia - atraso mental e do crescimento Atriquia - déficit intelectual y retraso en el crecimiento hrdo:pat_id_14573 100000 clinical subtype Perineurinoma reticolare Perineuriom, retikuläres Perineurioma reticular Perineurioma reticular Périneuriome réticulé Reticular perineurioma hrdo:pat_id_14574 100001 clinical subtype Perineurinoma sclerosante Perineuriom, sklerosierendes Perineurioma esclerosante Perineurioma esclerótico Périneuriome sclérosant Sclerosing perineurioma hrdo:pat_id_14575 100002 disease Perineurinoma dei tessuti molli Perineurioma de tejidos blandos Périneuriome des tissus mous Soft tissu perineurioma Extraneural perineurioma Perineurinoma extraneurale Perineuriom, extraneurales Perineurioma extraneural Perineurioma extraneural Périneuriome extraneural hrdo:pat_id_14576 100003 C1370658 disease Intraneural perineurioma Perineurinoma intraneurale Perineuriom, intraneurales Perineurioma intraneural Perineurioma intraneural Périneuriome intraneural hrdo:pat_id_14579 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 605714 C537944 D028243 neant 100006 56453003 C0268394 C2931672 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 HCHWA type néerlandais HCHWA, Dutch type HCHWA-D HCHWA-D Emorragia cerebrale ereditaria con amiloidosi, tipo olandese Hemorragia cerebral com amiloidose, hereditária, tipo holandês Hemorragia cerebral hereditaria con amiloidosis, de tipo neerlandés Hereditary cerebral hemorrhage with amyloidosis, Dutch type Hémorragie cérébrale héréditaire avec amylose type néerlandais Zerebrale Hämorrhagie mit Amyloidose, hereditäre, holländischer Typ hrdo:pat_id_14580 100007 Angiopathie amyloïde héréditaire d'APP Hereditary APP amyloid angiopathy Amyloid-Vorläufer-Protein (APP)-Amyloidangiopathie, hereditäre Angiopathie amyloïde héréditaire du précurseur du peptide amyloïde Angiopatia amiloide ereditaria da precursore del peptide amiloide (APP) Angiopatia amilóide da proteína percursora do amilóide (APP), hereditária Angiopatía amiloide hereditaria por la proteína precursora amiloide (PPA) Hereditary amyloid precursor protein angiopathy hrdo:pat_id_14581 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 105150 neant 100008 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Angiopathie amyloïde héréditaire de la cystatine C HCHWA type islandais HCHWA, Icelandic type Hereditary cystatin C amyloid angiopathy Emorragia cerebrale ereditaria con amiloidosi, tipo islandese Hemorragia cerebral com amiloidose, hereditária, tipo islandês Hemorragia cerebral hereditaria con amiloidosis, de tipo islandés Hereditary cerebral hemorrhage with amyloidosis, Icelandic type Hémorragie cérébrale héréditaire avec amylose type islandais Zerebrale Hämorrhagie mit Amyloidose, hereditäre, isländischer Typ hrdo:pat_id_14584 neant Q04.3 100011 malformation syndrome Lisencefalia com hipoplasia cerebelosa, tipo A Lisencefalia con hipoplasia cerebelosa, tipo A Lissencefalia con ipoplasia cerebellare, tipo A Lissencephaly with cerebellar hypoplasia type A Lissencéphalie - hypoplasie cérébelleuse type A Lissenzephalie mit zerebellärer Hypoplasie Typ A hrdo:pat_id_14585 neant Q04.3 100012 malformation syndrome Lisencefalia com hipoplasia cerebelosa, tipo B Lisencefalia con hipoplasia cerebelosa, tipo B Lissencefalia con ipoplasia cerebellare, tipo B Lissencephaly with cerebellar hypoplasia type B Lissencéphalie - hypoplasie cérébelleuse type B Lissenzephalie mit zerebellärer Hypoplasie Typ B hrdo:pat_id_14586 neant Q04.3 100013 malformation syndrome Lisencefalia com hipoplasia cerebelosa, tipo C Lisencefalia con hipoplasia cerebelosa, tipo C Lissencefalia con ipoplasia cerebellare, tipo C Lissencephaly with cerebellar hypoplasia type C Lissencéphalie - hypoplasie cérébelleuse type C Lissenzephalie mit zerebellärer Hypoplasie Typ C hrdo:pat_id_14587 neant Q04.3 100014 malformation syndrome Lisencefalia com hipoplasia cerebelosa, tipo D Lisencefalia con hipoplasia cerebelosa, tipo D Lissencefalia con ipoplasia cerebellare, tipo D Lissencephaly with cerebellar hypoplasia type D Lissencéphalie - hypoplasie cérébelleuse type D Lissenzephalie mit zerebellärer Hypoplasie Typ D hrdo:pat_id_14588 neant Q04.3 100015 malformation syndrome Lisencefalia com hipoplasia cerebelosa, tipo E Lisencefalia con hipoplasia cerebelosa, tipo E Lissencefalia con ipoplasia cerebellare, tipo E Lissencephaly with cerebellar hypoplasia type E Lissencéphalie - hypoplasie cérébelleuse type E Lissenzephalie mit zerebellärer Hypoplasie Typ E hrdo:pat_id_14589 neant Q04.3 100016 malformation syndrome Lisencefalia com hipoplasia cerebelosa, tipo F Lisencefalia con hipoplasia cerebelosa, tipo F Lissencefalia con ipoplasia cerebellare, tipo F Lissencephaly with cerebellar hypoplasia type F Lissencéphalie - hypoplasie cérébelleuse type F Lissenzephalie mit zerebellärer Hypoplasie Typ F hrdo:pat_id_14592 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant D46.2 100019 397338009 415283002 C1318550 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown AREB-1 RAEB-1 RAEB-1 RAEB-1 RAEB-1 RAEB-1 Anemia refractaria con exceso de blastos 1 Anemia refrattaria con eccesso di blasti-1 Anemia refratária com excesso de blastos-1 Anämie, refraktäre, mit Blastenexzess-1 Anémie réfractaire avec excès de blastes-1 Refractory anemia with excess blasts-1 hrdo:pat_id_14593 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant D46.2 100020 397339001 415284008 C1318551 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown AREB-2 RAEB-2 RAEB-2 RAEB-2 RAEB-2 RAEB-2 Anemia refractaria con exceso de blastos 2 Anemia refrattaria con eccesso di blasti-2 Anemia refratária com excesso de blastos-2 Anämie, refraktäre, mit Blastenexzess-2 Anémie réfractaire avec excès de blastes-2 Refractory anemia with excess blasts-2 hrdo:pat_id_14594 neant C90.2 100021 clinical subtype Plasmacitoma primario del hueso Plasmacitoma primário do osso Plasmacytome primaire de l'os Plasmocitoma primario dell'osso Plasmozytom, primäres, des Knochens Primary plasmacytoma of the bone hrdo:pat_id_14595 neant C90.2 100022 clinical subtype PEM Extramedullary soft tissue plasmacytoma Plasmacitoma extramedular (de tejidos blandos) Plasmacitoma extramedular (tecidos moles) Plasmacytome extramédullaire Plasmocitoma extramidollare (tessuto molle) Plasmozytom, extramedulläres (Weichteil-) hrdo:pat_id_14597 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant C88.2 100024 61493004 clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Mu-HCD mu-HCD mu-HCD mu-HCD mu-HCD Doença da cadeia pesada Mu Enfermedad de cadenas pesadas Mu Maladie des chaines lourdes Mu Malattia delle catene pesanti mu Mu heavy-chain disease Mu-Schwerkettenkrankheit hrdo:pat_id_14598 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter neant C88.3 100025 109982002 clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Alfa-HCD Alpha-HCD Alpha-HCD Alpha-HCD ECP alfa Alpha heavy-chain disease Alpha-Schwerkettenkrankheit Doença da cadeia pesada alfa Enfermedad de cadenas pesadas Alfa Maladie des chaines lourdes alpha Malattia delle catene pesanti alfa hrdo:pat_id_14599 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant C88.2 100026 109984001 clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Enfermedad de Franklin Franklin disease Franklin-Krankheit Gamma-HCD Gamma-HCD Gamma-HCD Gamma-HCD Gamma-HCD Maladie de Franklin Malattia di Franklin Doença da cadeia pesada gama Enfermedad de cadenas pesadas Gamma Gamma heavy-chain disease Gamma-Schwerkettenkrankheit Maladie des chaines lourdes gamma Malattia delle catene pesanti gamma hrdo:pat_id_1460 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 141300 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22facial+hemiatrophy%22%5BTI%5D+OR+%22facial+hemiatrophy%22%5BMH%5D+OR+%28Hemifacial+atrophy%5BTW%5D+AND+progressive%5BAll%5D%29 G51.8 1214 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Parry-Romberg syndrome Parry-Romberg, síndrome de Parry-Romberg-Syndrom Sindrome di Parry Romberg Syndrome de Parry-Romberg Síndrome de Parry-Romberg Síndrome de Parry-Romberg Atrofia emifacciale progressiva Atrofia hemifacial progresiva Atrofia hemifacial progressiva Atrophie hémifaciale progressive Hemiatrophia facialis progressiva Progressive hemifacial atrophy hrdo:pat_id_14604 104500 104530 204650 301201 neant K00.5 100031 109476006 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant clinical subtype Amelogenesis imperfecta type 1 Amélogenèse imparfaite type I Amelogenesi imperfetta, tipo ipoplasico Amelogenesis imperfecta, hypoplastischer Typ Amelogénese imperfeita, tipo hipoplástica Amelogénesis imperfecta hipoplásica Amélogenèse imparfaite hypoplasique Hypoplastic amelogenesis imperfecta hrdo:pat_id_14605 130900 neant K00.5 100032 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo clinical subtype Amelogenesis imperfecta type 3 Amélogenèse imparfaite type 3 Amelogenesi imperfetta, tipo ipocalcificato Amelogenesis imperfecta, hypokalzifizierender Typ Amelogénese imperfeita, tipo hipocalcificada Amelogénesis imperfecta, con hipocalcificación Amélogenèse imparfaite hypocalcifié Hypocalcified amelogenesis imperfecta hrdo:pat_id_14606 204700 301200 612529 613211 614832 C536606 neant K00.5 100033 109475005 C0399372 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive clinical subtype Amelogenesis imperfecta type 2 Amélogenèse imparfaite type 2 Amelogenesi imperfetta, tipo immaturo Amelogenesis imperfecta, hypomaturierender Typ Amelogénese imperfeita, tipo hipomaturação Amelogénesis imperfecta, tipo con hipomaduración Amélogenèse imparfaite hypomature Hypomaturation amelogenesis imperfecta hrdo:pat_id_14607 104510 neant K00.5 100034 109472008 C0399373 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype Amelogenesis imperfecta type 4 Amélogenèse imparfaite type 4 Amelogenesi imperfetta immatura-ipoplasica associata a taurodonzia Amelogenesis imperfecta, hypomaturierender-hypoplastischer Typ mit Taurodontie Amelogénese imperfeita, hipomaturação-hipoplástica com taurodontia Amelogénesis imperfecta, hipomineralización-hipoplasia con taurodontismo Amélogenèse imparfaite hypomature-hypoplasique avec taurodontisme Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism hrdo:pat_id_14608 100035 clinical subtype Lebertumor, nekrotischer solitärer Solitary necrotic tumor of the liver Tumeur nécrosante solitaire du foie Tumor necrótico solitario del hígado Tumor solitário necrótico do fígado Tumore necrotico solitario del fegato hrdo:pat_id_1461 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 165199 neant H47.2 H90.3 1215 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease AOD+ Atrofia ottica - sordità - polineuropatia - miopatia Atrofia óptica - sordera - polineuropatía - miopatía Atrophie optique - surdité - polyneuropathie - myopathie DOA+ DOA+ DOA+ DOA+ Optic atrophy - deafness- polyneuropathy - myopathy Optikusatrophie - Polyneuropathie -Taubheit - Myopathie Atrofia ótica - surdez - neuropatia Atrophie optique autosomique dominante plus Autosomal dominant optic atrophy plus syndrome Optikusatrophie-plus-Syndrom, autosomal-dominantes Sindrome dell'atrofia ottica plus, autosomica dominante Síndrome de atrofia óptica autosómica dominante plus hrdo:pat_id_14612 neant D58.8 100039 clinical subtype Familial pseudohyperkalemia type 1 Pseudohipercalemia, familiar, tipo 1 Pseudohiperpotasemia familiar, tipo 1 Pseudohyperkaliämie, familiäre, Typ 1 Pseudohyperkaliémie familiale type 1 Pseudoiperkaliemia familiare, tipo 1 hrdo:pat_id_14613 neant D58.8 100040 clinical subtype Familial pseudohyperkalemia type 2 Pseudohipercalemia, familiar, tipo 2 Pseudohiperpotasemia familiar, tipo 2 Pseudohyperkaliämie, familiäre, Typ 2 Pseudohyperkaliémie familiale type 2 Pseudoiperkaliemia familiare, tipo 2 hrdo:pat_id_14614 neant D58.8 100041 clinical subtype Familial pseudohyperkalemia, Cardiff type Pseudohipercalemia, familiar, tipo Cardiff Pseudohiperpotasemia familiar, tipo Cardiff Pseudohyperkaliämie, familiäre, Typ Cardiff Pseudohyperkaliémie familiale type Cardiff Pseudoiperkaliemia familiare, tipo Cardiff hrdo:pat_id_14616 606483 neant G60.0 100043 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease CMTDIA CMTDIA Autosomal dominant intermediate Charcot-Marie-Tooth disease type A Charcot-Marie-Tooth-Krankheit, dominant-intermediäre, Typ A Doença de Charcot-Marie-Tooth dominante-intermediária, tipo A Enfermedad de Charcot-Marie-Tooth, dominante-intermedia tipo A Maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante A Malattia di Charcot-Marie-Tooth, forma dominante intermedia A hrdo:pat_id_14617 606482 neant G60.0 100044 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease CMTDIB CMTDIB Autosomal dominant intermediate Charcot-Marie-Tooth disease type B Charcot-Marie-Tooth-Krankheit, dominant-intermediäre, Typ B Doença de Charcot-Marie-Tooth dominante-intermediária, tipo B Enfermedad de Charcot-Marie-Tooth, dominante-intermedia tipo B Maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante B Malattia di Charcot-Marie-Tooth, forma dominante intermedia B hrdo:pat_id_14618 608323 neant G60.0 100045 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease CMTDIC CMTDIC Autosomal dominant intermediate Charcot-Marie-Tooth disease type C Charcot-Marie-Tooth-Krankheit, dominant-intermediäre, Typ C Doença de Charcot-Marie-Tooth dominante-intermediária, tipo C Enfermedad de Charcot-Marie-Tooth, dominante-intermedia tipo C Maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante C Malattia di Charcot-Marie-Tooth, forma dominante-intermedia C hrdo:pat_id_14619 607791 neant G60.0 100046 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease CMTDID CMTDID Autosomal dominant intermediate Charcot-Marie-Tooth disease type D Charcot-Marie-Tooth-Krankheit, dominant-intermediäre, Typ D Doença de Charcot-Marie-Tooth dominante-intermediária, tipo D Enfermedad de Charcot-Marie-Tooth, dominante-intermedia tipo D Maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante D Malattia di Charcot-Marie-Tooth, forma dominante-intermedia D hrdo:pat_id_1462 600175 neant G12.2 1216 disease Amyotrophie spinale bénigne congénitale avec contractures Amyotrophie spinale congénitale non progressive Amyotrophie spinale distale bénigne autosomique dominante Atrofia muscolare spinale distale benigna, autosomica dominante Atrofia muscular espinal benigna congénita con contracturas Atrofia muscular espinal congénita no regresiva Atrofia muscular espinal distal benigna autosómica dominante Autosomal dominant benign distal spinal muscular atrophy Congenital benign spinal muscular atrophy with contractures Congenital nonprogressive spinal muscular atrophy Spinale Muskelatrophie, benigne, autosomal-dominante Amyotrophie spinale bénigne congénitale autosomique dominante Atrofia muscolare spinale benigna congenita, autosomica dominante Atrofia muscular espinal benigna congénita autosómica dominante Atrofia muscular espinhal congénita benigna, forma dominante Autosomal dominant congenital benign spinal muscular atrophy Spinalatrophie, benigne dominante hrdo:pat_id_14620 neant Q39.8 100047 morphological anomaly Cisti da duplicazione esofagea Duplication oesophagienne kystique Esophageal duplication cyst Quiste de duplicación esofágica Quisto esofágico de duplicação Ösophagus-Verdoppelung mit Zysten hrdo:pat_id_14621 neant Q39.8 100048 morphological anomaly Duplicación tubular del esófago Duplication tubulaire de l'oesophage Duplicazione tubulare dell'esofago Duplicação tubular do esófago Tubular duplication of the esophagus Tubuläre Duplikation des Ösophagus hrdo:pat_id_14622 neant 100049 etiological subtype ILD primaire spécifique de l'enfance due à une anomalie des protéines du surfactant pulmonaire ILD primaria específica de la infancia por anomalías de las proteinas surfactantes pulmonares ILD primitiva specifica dell'infanzia da anomalie della proteina del surfattante polmonare Primary ILD specific to childhood due to pulmonary surfactant protein anomalies Anomalias das proteínas surfactantes pulmonares Enfermedad pulmonar intersticial primaria específica de la infancia por anomalías de las proteinas surfactantes pulmonares Interstitielle Lungenkrankheit, primäre spezifische, der Kindheit, durch pulmonale Surfactant-Protein-Anomalie Pneumopathie interstitielle primaire spécifique de l'enfance due à une anomalie des protéines du surfactant pulmonaire Pneumopatia interstiziale primitiva specifica dell'infanzia da anomalie della proteina del surfattante polmonare Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies hrdo:pat_id_14623 Variabel Variabile Variable Variable Variable Variable Variável 106100 C538577 neant D84.1 100050 234619000 C0398775 C2717906 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate etiological subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Angio-oedème bradykinique héréditaire de type I Edema angioneurotico ereditario, tipo 1 HAE-1 HAE-I HAE-I Hereditary angioneurotic edema type 1 Oedème angioneurotique héréditaire type I Angio-oedème héréditaire type I Angioedema ereditario, tipo 1 Angioedema hereditario tipo 1 Angioedema hereditário, tipo I Angioödem, hereditäres, Typ 1 Hereditary angioedema type 1 hrdo:pat_id_14624 Variabel Variabile Variable Variable Variable Variable Variável 106100 neant D84.1 100051 234620006 C0398776 C1862892 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate etiological subtype Angio-oedème bradykinique héréditaire de type II Edema angioneurotico ereditario, tipo 2 HAE 2 HAE 2 HAE-2 HAE-II HAE-II Hereditary angioneurotic edema type 2 Oedème angioneurotique héréditaire type II Angio-oedème héréditaire type II Angioedema ereditario, tipo 2 Angioedema hereditario tipo 2 Angioedema hereditário, tipo II Angioödem, hereditäres, Typ 2 Hereditary angioedema type 2 hrdo:pat_id_14627 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 610618 D056828 neant D84.1 100054 427167008 C1857728 C1960459 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate etiological subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown AEH 3 Angio-oedème bradykinique héréditaire de type III Angio-oedème héréditaire oestrogène-dépendant Angio-oedème héréditaire sensible aux oestrogènes Angioedema - asociado a estrógenos hereditario Angioedema - dependiente a estrógenos hereditario Angioedema estrogeno-associato ereditario Angioedema estrogeno-dipendente ereditario Edema angioneurotico ereditario, tipo 3 Edema angioneurotico estrogeno-associato ereditario Edema angioneurotico estrogeno-dipendente ereditario Edema angioneurótico dependiente de estrógenos hereditario Edema angioneurótico hereditario asociado a estrógenos Edema angioneurótico hereditario tipo 3 HAE 3 HAE 3 HAE-3 HAE-III HAE-III HAE-III Hereditary angioneurotic edema type 3 Inherited estrogen-associated angioedema Inherited estrogen-associated angioneurotic edema Inherited estrogen-dependent angioedema Inherited estrogen-dependent angioneurotic edema Oedème angioneurotique héréditaire estrogène sensible Oedème angioneurotique héréditaire oestrogène-dépendant Oedème angioneurotique héréditaire type III Angio-oedème héréditaire type III Angioedema ereditario, tipo 3 Angioedema hereditario tipo 3 Angioedema hereditário, tipo III Angioödem, hereditäres, Typ 3 Hereditary angioedema type 3 hrdo:pat_id_14628 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant T78.3 100055 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype AAE 2 AAE 2 AAE II AAE II AEA 2 Acquired angioneurotic edema type 2 Angio-oedème bradykinique acquis type II Edema angioneurotico acquisito, tipo 2 Oedème angioneurotique acquis type II Acquired angioedema type 2 Angio-oedème acquis type II Angioedema acquisito, tipo 2 Angioedema adquirido tipo 2 Angioedema adquirido, tipo II Angioödem, erworbenes, Typ 2 hrdo:pat_id_14629 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant T78.3 100056 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype AEA 1 Acquired angioneurotic edema type 1 Angio-oedème bradykinique acquis type I Edema angioneurotico acquisito, tipo 1 Oedème angioneurotique acquis type I Acquired angioedema type 1 Angio-oedème acquis type I Angioedema acquisito, tipo 1 Angioedema adquirido tipo 1 Angioedema adquirido, tipo I Angioödem, erworbenes, Typ 1 hrdo:pat_id_14630 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant T78.3 100057 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Angio-oedème bradykinique secondaire aux inhibiteurs du système RAAS Angioedema da inibitori di RAAS Angioedema inducido por inhibidores del RAAS Angioneurotisches Ödem, ACE-Hemmer-abhängiges Angioödem, RAAS-Blocker-induziertes Edema angioneurotico da inibitori del sistem renina-angiotensina-aldosterone Edema angioneurotico da inibitori di RAAS Edema angioneurótico inducido por el bloqueo del RAAS Edema angioneurótico inducido por el bloqueo del sistema renina-angiotensina-aldosterona Oedème angioneurotique secondaire aux inhibiteurs du système RAAS Oedème angioneurotique secondaire aux inhibiteurs du système rénine-angiotensine-aldostérone RAAS-blocker-induced angioedema RAAS-blocker-induced angioneurotic edema RAE RAE Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema Angio-oedème bradykinique secondaire aux inhibiteurs du système rénine-angiotensine-aldostérone Angioedema da inibitori del sistema renina-angiotensina-aldosterone Angioedema inducido por inhibidores del sistema renina-angiotensina-aldosterona Angioedema, relacionado com o inibidor da ECA Angioödem, Renin-Angiotensin-Aldosteron-System Blocker induziertes Renin-angiotensin-aldosterone system-blocker-induced angioedema hrdo:pat_id_14640 D014884 10047847 neant A39.1+ E35.1* 100067 36102002 C0043068 clinical subtype Sindrome di Waterhouse-Friderichsen Syndrome de Waterhouse-Friderichsen Síndrome de Waterhouse-Friderichsen Síndrome de Waterhouse-Friedrickson Waterhouse-Friderichsen syndrome Waterhouse-Friedrickson-Syndrom hrdo:pat_id_14642 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 172700 600274 neant G31.0 100069 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch disease APP semántica APP sémantique Afasia primaria progresiva semántica Afasia primitiva progressiva semantica Aphasie primaire progressive sémantique PPA, variante semantica Semantic primary progressive aphasia Semantic variant PPA Afasia, progressiva primária, tipo fluente Demencia semántica Demenza semantica Démence sémantique PPA mit verminderter Sprachproduktion (fluenter Typ) Semantic dementia hrdo:pat_id_14643 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 172700 600274 607485 D057178 10029542 neant G31.0 100070 68161007 C0751706 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 APP agrammatique APP non fluente APP variante no fluente Afasia primitiva progressiva non fluente Agramatic variant of PPA Agramatic variant of primary progressive aphasia Aphasie primaire progressive agrammatique Non-fluent variant PPA PPA variante no fluida PPA, variante non fluente Variante agramatical de APP Variante agramátical de la afasia progresiva primaria Afasia progresiva no fluente Afasia progressiva non fluente Afasia, progressiva primária, tipo não-fluente Aphasie primaire progressive non fluente PPA mit verminderter Sprachproduktion (non-fluenter Typ) Progressive non-fluent aphasia hrdo:pat_id_14644 neant Q92.1 100071 malformation syndrome Duplication du chromosome 3 en mosaïque Mosaic trisomy 3 Mosaik-Trisomie 3 Trisomia 3 in mosaico Trisomía 3 en mosaico Trissomia 3 em mosaico hrdo:pat_id_14645 neant G54.0 100072 disease Thoracic-outlet-Syndrom (TOS), echtes, vaskuläres Schultergürtelenge-Syndrom, echtes, vaskuläres Syndrome du défilé thoracique vasculaire Síndrome canal torácico, vascular verdadeiro TOS vascolare vera TOS vascular verdadera True vascular thoracic outlet syndrome hrdo:pat_id_14646 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável neant G54.0 100073 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Thoracic-outlet-Syndrom (TOS), echtes neurogenes Schultergürtelenge-Syndrom, echtes neurogenes Syndrome du défilé thoracique neurogène Síndrome canal torácico, neurogénico verdadeiro TOS neurogenica vera TOS vascular neurogénica True neurogenic thoracic outlet syndrome hrdo:pat_id_14647 100075 disease Gastric endocrine tumor Tumeur endocrine de l'estomac Tumor endocrino gástrico Tumor endócrino gástrico Tumor, endokriner, des Magens Tumore endocrino gastrico hrdo:pat_id_14648 100076 group of phenomes Duodenal endocrine tumor Tumeur endocrine du duodénum Tumor endocrino del duodeno Tumor endócrino do duodeno Tumor, endokriner, des Duodenums Tumore endocrino duodenale hrdo:pat_id_14649 100077 disease Jejunal endocrine tumor Tumeur endocrine du jéjunum Tumor endocrino del yeyuno Tumor endócrino do jejuno Tumor, endokriner, des Jejunums Tumore endocrino del digiuno hrdo:pat_id_1465 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 109050 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=auralcephalosyndactyly+OR+%28auro%5Btw%5D+cephalo%5Btw%5D+syndactyly%29 Q87.0 1219 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Auralcefalossindactilia Auralcephalosyndactyly Kurczynski-Casperson syndrome Kurczynski-Casperson, síndrome de Kurczynski-Casperson-Syndrom Sindrome di Kurczynski-Casperson Syndrome de Kurczynski-Casperson Síndrome de Kurczynski-Casperson Síndrome de Kurczynski-Casperson Auro-Zephalo-Syndaktylie Auro-céphalo-syndactylie Aurocefalosindactilia Aurocefalosindattilia Aurocefalossindactilia Aurocephalosyndactyly hrdo:pat_id_14650 100078 disease Ileal endocrine tumor Tumeur endocrine de l'iléon Tumor endocrino del íleon Tumor endócrino do íleo Tumor, endokriner, des Ileums Tumore endocrino ileale hrdo:pat_id_14651 100079 disease Appendiceal endocrine tumor Tumeur endocrine appendiculaire Endocrine tumor of the appendix Tumeur endocrine de l'appendice Tumor endocrine de apéndice Tumor endócrino do apêndice Tumor, endokriner, des Appendix Tumore endocrino dell'appendice hrdo:pat_id_14652 100080 disease Colon endocrine tumor Tumeur endocrine du colon Tumor endocrino de colón Tumor endócrino do colon Tumor, endokriner, des Kolons Tumore endocrino del colon hrdo:pat_id_14653 100081 disease Rectal endocrine tumor Tumeur endocrine du rectum Tumor endocrino de recto Tumor endócrino retal Tumor, endokriner, des Rektums Tumore endocrino del retto hrdo:pat_id_14654 100082 disease Anal endocrine tumor Tumeur endocrine de l'anus Tumor endocrino de ano Tumor endócrino anal Tumor, endokriner, des Anus Tumore endocrino anale hrdo:pat_id_14655 100083 disease Laryngeal endocrine tumor Tumeur endocrine du larynx Tumor endocrino de laringe Tumor endócrino da laringe Tumor, endokriner, des Larynx Tumore endocrino della laringe hrdo:pat_id_14656 100084 disease Middle ear endocrine tumor Tumeur endocrine de l'oreille moyenne Tumor endocrino del oído medio Tumor endócrino do ouvido médio Tumor, endokriner, des Mittelohrs Tumore endocrino dell'orecchio medio hrdo:pat_id_14657 100085 disease Hepatic endocrine tumor Tumeur endocrine du foie Tumor endocrino hepático Tumor endócrino hepático Tumor, endokriner hepatischer Tumore endocrino epatico hrdo:pat_id_14658 100086 disease Gall-bladder endocrine tumor Tumeur endocrine de la vésicule biliaire Tumor endocrino de la vesícula biliar Tumor endócrino da vesícula biliar Tumor, endokriner, der Gallenblase Tumore endocrino della cistifellea hrdo:pat_id_14659 neant C73 D34 D44.0 100087 group of phenomes Schilddrüsentumor Thyroid tumor Tumeur de la thyroïde Tumor da tiroide Tumor de tiroides Tumore tiroideo hrdo:pat_id_1466 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 118330 C535921 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Cheilitis+glandularis K13.0 1221 26374003 C0267034 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cheilitis glandularis apostematosa Von-Baelz-Krankheit Cheilite ghiandolare Cheilitis glandularis Cheilitis glandularis Chéilite glandulaire Queilite glandular Síndrome de Baelz hrdo:pat_id_14660 neant C73 100088 C0549473 group of phenomes Carcinoma da tiroide Carcinoma de tiroides Carcinoma tiroideo Carcinome de la thyroïde Schilddrüsenkarzinom Thyroid carcinoma hrdo:pat_id_14662 neant C75.0 D35.1 D44.2 100090 group of phenomes Nebenschilddrüsenkarzinom Rare parathyroid tumor Tumeur rare des parathyroïdes Tumor da paratiroide, raro Tumor de paratiroides Tumore delle paratiroidi hrdo:pat_id_14663 neant C74 D35.0 D44.1 100091 group of phenomes Adrenal/paraganglial tumor Tumeur des surrénales/paraganglions Tumor da suprarrenal Tumor suprarrenal / paraganglial Tumor, adrenaler/paraganglialer Tumore surrenale/paragangliare hrdo:pat_id_14664 100092 group of phenomes Enteropancreatic endocrine tumor Tumeur endocrine entéropancréatique Tumor endocrino enteropancreático Tumor endócrino enteropancreático Tumor, endokriner enteropankreatischer Tumore endocrino enteropancreatico hrdo:pat_id_14665 114900 neant E34.0 100093 disease Carcinoid tumor and carcinoid syndrome Tumeur et syndrome carcinoïdes Tumor carcinoide y síndrome carcinoide Tumor carcinóide e síndrome carcinóide Tumor, karzinoider und Karzinoides Syndrom Tumore carcinoide e sindrome carcinoide hrdo:pat_id_14666 neant D44.8 100094 group of phenomes Multiple endokrine Neoplasie Multiple polyglandular tumor Neoplasia endocrina multipla Neoplasia endocrina múltiple Neoplasias endócrinas múltiplas Tumeur multiple polyglandulaire hrdo:pat_id_14668 100100 group of phenomes Thymic tumor Thymustumor Tumeur thymique Tumor del timo Tumor tímico Tumore timico hrdo:pat_id_14669 100101 group of phenomes Endocrine tumor with other location Otros tumores endocrinos Tumeur endocrine avec d'autres localisations Tumor endócrino com outra localização Tumor, endokriner, sonstige Lokalisation Tumore endocrino con altra localizzazione hrdo:pat_id_14675 100642 disease Anomalia do transporte de esperma: Gonorreia Gonorrea Gonorrhea Gonorrhée Problemas en el transporte de esperma: Gonorrea Störung des Spermien-Transportes bei Gonorrhoe hrdo:pat_id_14678 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 612740 neant E80.2 100924 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ALAD porphyria ALAD-Porphyrie Doss-Porphyrie Porfiria ALAD Porfiria da ALAD Porfiria da delta-aminolevulinico deidratasi Porfiria da delta-aminolevulinico deidratasi (ALAD) Porfiria de Doss Porfiria di Doss Porfiria por déficit de delta-aminolevulínico-deshidratasa Porfiria por déficit de delta-aminolevulínico-deshidratasa (ALAD) Porphyria due to delta-Aminolevulinate dehydratase Porphyria due to delta-aminolevulinate dehydratase (ALAD) Porphyria of Doss Porphyrie de Doss Porphyrie durch delta-Aminolevulinate-Dehydratase (ALAD)-Mangel Porphyrie par déficit en ALAD Porphyrie par déficit en delta-aminolevulinate déhydratase Porfiria da deficit di ALA deidratasi Porfiria de Doss Porfiria por déficit de ALA-deshidratasa Porphyria due to ALA dehydratase deficiency Porphyrie durch ALA-Dehydratase-Mangel Porphyrie par déficit en ALA déshydratase hrdo:pat_id_14679 100932 group of phenomes Nuclear oculomotor paralysis Paralisi oculomotoria nucleare Paralisia oculomotora nuclear Paralysie oculomotrice nucléaire Parálisis oculomotora, nuclear Supranukleäre Blickparese hrdo:pat_id_14684 309548 neant 100973 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Deficit cognitivo associato a sito fragile FRAXE Déficit intelectual asociado al sitio frágil FRAXE Déficit intellectuel associé au site fragile FRAXE Intellectual deficit associated with fragile site FRAXE Intelligenzminderung assoziiert mit FRAXE Deficit cognitivo FRAXE Déficit intelectual FRAXE Déficit intellectuel FRAXE FRAXE intellectual deficit FRAXE-Syndrom Síndrome FRAXE hrdo:pat_id_14685 neant 100974 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown FRAXF syndrome FRAXF-Syndrom Sindrome FRAXF Syndrome FRAXF Síndrome FRAXF Síndrome FRAXF hrdo:pat_id_14687 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 242300 neant Q80.2 100976 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 BSI BSI BSI BSI Bathing suit ichthyosis Bathing-suit-Ichthyose Ichtyose en maillot de bain Ictiose em fato de banho Ictiosis del área del traje de baño Ittiosi a "costume da bagno" hrdo:pat_id_14689 neant Q87.5 100978 malformation syndrome Benallegue-Lacete syndrome Benallegue-Lacete-Syndrom Syndrome de Benallegue Lacete Síndrome de Benallegue-Lacete Cloverleaf skull - asphyxiating thoracic dysplasia Cranio a ''trifoglio'' - displasia toracica asfissiante Cráneo en hoja de trébol - displasia torácica asfixiante Crâne en trêfle - Dysplasie asphyxiante du thorax Kleeblattschädel - asphyxierende Thoraxdysplasie Síndrome de Benallegue-Lacete hrdo:pat_id_1469 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 218600 C536788 neant Q87.0 1225 77608001 C0265308 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Craniosinostosi - aplasia radiale Craniosynostose - aplasie radiale Syndrom der Kraniosynostose und Radiusaplasie Baller-Gerold syndrome Baller-Gerold-Syndrom Sindrome di Baller-Gerold Syndrome de Baller-Gerold Síndrome de Baller-Gerold Síndrome de craniossinostose - aplasia radial hrdo:pat_id_14690 neant G11.4 100979 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Autosomal dominant complex HSP Autosomal dominant complex SPG Autosomal dominant complicated HSP Autosomal dominant complicated SPG Autosomal dominant complicated spastic paraplegia HSP complexe autosomique dominante SPG complexe autosomique dominante Autosomal dominant complex spastic paraplegia Hereditäre spastische Paraplegie, autosomal-dominante komplexe Paraparésia espástica hereditária, autossómica dominante, complexa Paraplegia spastica ereditaria, autosomica dominante complessa Paraplejia espástica hereditaria, autosómica dominante complicada Paraplégie spastique complexe autosomique dominante hrdo:pat_id_14691 neant G11.4 100980 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Autosomal dominant pure HSP Autosomal dominant pure SPG Autosomal dominant uncomplicated HSP Autosomal dominant uncomplicated SPG Autosomal dominant uncomplicated spastic paraplegia HSP autosomique dominante pure SPG autosomique dominante pure Autosomal dominant pure spastic paraplegia Hereditäre spastische Paraplegie, autosomal-dominante reine Paraparésia espástica hereditária, autossómica dominante, pura Paraplegia spastica ereditaria, autosomica dominante pura Paraplejia espástica hereditaria, autosómica dominante pura Paraplégie spastique autosomique dominante pure hrdo:pat_id_14692 neant G11.4 100981 group of phenomes Autosomal recessive complex HSP Autosomal recessive complex SPG Autosomal recessive complicated HSP Autosomal recessive complicated SPG Autosomal recessive complicated spastic paraplegia HSP complexe autosomique récessive SPG complexe autosomique récessive Autosomal recessive complex spastic paraplegia Hereditäre spastische Paraplegie, autosomal-rezessive komplexe Paraparésia espástica hereditária, autossómica recessiva, complexa Paraplegia spastica ereditaria, autosomica recessiva complessa Paraplejia espástica hereditaria, autosómica recesiva complicada Paraplégie spastique complexe autosomique récessive hrdo:pat_id_14693 neant G11.4 100982 group of phenomes Autosomal recessive pure HSP Autosomal recessive pure SPG Autosomal recessive uncomplicated HSP Autosomal recessive uncomplicated SPG Autosomal recessive uncomplicated spastic paraplegia HSP pure autosomique récessive SPG pure autosomique récessive Autosomal recessive pure spastic paraplegia Hereditäre spastische Paraplegie, autosomal-rezessive reine Paraparésia espástica hereditária, autossómica recessiva, pura Paraplegia spastica ereditaria, autosomica recessiva pura Paraplejia espástica hereditaria, autosómica recesiva pura Paraplégie spastique pure autosomique récessive hrdo:pat_id_14695 182600 C536864 neant G11.4 100984 C2931355 disease Enfermedad de Strumpell Maladie de Strumpell Malattia di Strumpell Paraplegia spastica familiare, autosomica dominante, tipo 1 Paraplejía espástica familiar autosómica dominante tipo 1 SPG3 SPG3A SPG3A SPG3A Spastische Paraplegie, autosomal-dominante, Typ 1 Strumpell disease Strümpell-Lorrain-Syndrom Autosomal dominant spastic paraplegia type 3 Paraparésia espástica 3 Paraplegia spastica, autosomica dominante, tipo 3 Paraplejía espástica autosómica dominante tipo 3 Paraplégie spastique autosomique dominante type 3 Spastische Paraplegie, autosomal-dominante, Typ 3 hrdo:pat_id_14696 Variabel Variabile Variable Variable Variable Variable Variável 182601 C536865 neant G11.4 100985 C1866855 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Paraplegia spastica, autosomica dominante, tipo 2 Paraplejía espástica familiar autosómica dominante tipo 2 SPG4 SPG4 SPG4 SPG4 SPG4 Spastische Paraplegie, autosomal-dominante, familiäre, Typ 2 Autosomal dominant spastic paraplegia type 4 Paraparésia espástica 4 Paraplegia spastica, autosomica dominante, tipo 4 Paraplejía espástica autosómica dominante tipo 4 Paraplégie spastique autosomique dominante type 4 Spastische Paraplegie, autosomal-dominante, Typ 4 hrdo:pat_id_14697 270800 C536871 neant G11.4 100986 C2931356 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SPG5A SPG5A SPG5A SPG5A SPG5A Autosomal recessive spastic paraplegia type 5A Paraparésia espástica 5A Paraplegia spastica, autosomica recessiva, tipo 5A Paraplejía espástica autosómica recesiva tipo 5A Paraplégie spastique autosomique récessive type 5A Spastische Paraplegie, autosomal-rezessive, Typ 5A hrdo:pat_id_14699 600363 C536866 neant G11.4 100988 C1838192 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Autosomal dominant familial spastic paraplegia type 3 Paraplejía espástica familiar autosómica dominante tipo 3 Paraplégie spastique familiale autosomique dominante type 3 SPG6 SPG6 SPG6 SPG6 Spastische Paraplegie, autosomal-dominante, familiäre, Typ 3 Autosomal dominant spastic paraplegia type 6 Paraparésia espástica 6 Paraplegia spastica, autosomica dominante, tipo 6 Paraplejía espástica autosómica dominante tipo 6 Paraplégie spastique autosomique dominante type 6 Spastische Paraplegie, autosomal-dominante, Typ 6 hrdo:pat_id_147 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 194190 C536740 D054877 10050361 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Deletion%5Bti%5D+4p%5Bti%5D+OR+4p+syndrome%5Btw%5D+OR+wolf+hirschhorn%5Btw%5D+OR+(chromosome+deletion%5Bmh%5D+chromosome+4%5Bmh%5D) Q93.3 280 17122004 C1956097 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 4p- syndrome Chromosom 4p- Syndrom Deleción distal 4p Deleción telomérica 4p Deletion 4p, distale Delezione 4p distale Delezione 4p telomerica Distal deletion 4p Distal monosomy 4p Délétion distale 4p Délétion télomérique 4p Monosomia 4p distale Monosomie 4p, distale Monosomie distale 4p Monosomía distal 4p Monossomia 4p Sindrome 4p- Syndrome 4p- Síndrome 4p- Síndrome de Wolf-Hirschorn Telomeric deletion 4p Wolf-Hirschorn, síndrome de Deleção 4p Sindrome di Wolf-Hirschhorn Syndrome de Wolf-Hirschhorn Síndrome de Wolf-Hirschhorn Wolf-Hirschhorn syndrome Wolf-Hirschhorn-Syndrom hrdo:pat_id_1470 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 241850 C537901 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Bamforth+synd*[tw]+OR+Bamforth+Laz*[tw]+OR+%28%28hypothyroidism[mh]+OR+Hypothyroidism[ti]%29+%28cleft+palate[mh]+OR+cleft+palate[ti]%29%29 E03.1 1226 C1855794 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Bamforth-Lazarus syndrome Bamforth-Lazarus-Syndrom Hipotiroidismo - hendidura del paladar Hypothyreose - Gaumenspalte Hypothyroidism - cleft palate Hypothyroïdie - fente palatine Ipotiroidismo - schisi palatina Sindrome di Bamforth-Lazarus Syndrome de Bamforth-Lazarus Síndrome de Bamforth-Lazarus Bamforth syndrome Bamforth-Syndrom Sindrome di Bamforth Syndrome de Bamforth Síndrome de Bamforth Síndrome de Bamforth hrdo:pat_id_14700 603563 C536867 neant G11.4 100989 C1863704 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SPG8 SPG8 SPG8 SPG8 SPG8 Autosomal dominant spastic paraplegia type 8 Paraparésia espástica 8 Paraplegia spastica, autosomica dominante, tipo 8 Paraplejía espástica autosómica dominante tipo 8 Paraplégie spastique autosomique dominante type 8 Spastische Paraplegie, autosomal-dominante, Typ 8 hrdo:pat_id_14701 601162 C536868 neant G11.4 100990 C1832669 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cataracte - neuropathie motrice - petite taille - anomalies du squelette Cataracts motor neuropathy - short stature - skeletal anomalies Cataratas - neuropatía motora - baja estatura - anomalías esqueléticas Katarakte - motorische Neuropathie - Kleinwuchs - Skelettanomalien Neuropatia motoria - cataratta - statura bassa - anomalie scheletriche Paraparesi spastica - amiopatia - cataratta - reflusso gastroesofageo Paraparesia espástica * amiopatia - cataratas - reflujo gastroesofágico Paraparésie spastique - amyopathie - cataracte -reflux gastroesophagien SPG9 SPG9 SPG9 SPG9 SPG9 Spastic paraparesis - amyopathy - cataracts - gastroesophageal reflux Spastische Paraplegie - Amyopathie - Katarakte - gastro-ösophagealer Reflux Autosomal dominant spastic paraplegia type 9 Paraparésia espástica 9 Paraplegia spastica, autosomica dominante, tipo 9 Paraplejía espástica autosómica dominante tipo 9 Paraplégie spastique autosomique dominante type 9 Spastische Paraplegie, autosomal-dominante, Typ 9 hrdo:pat_id_14702 604187 C537482 neant G11.4 100991 C1858712 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SPG10 SPG10 SPG10 SPG10 SPG10 Autosomal dominant spastic paraplegia type 10 Paraparésia espástica 10 Paraplegia spastica, autosomica dominante, tipo 10 Paraplejía espástica autosómica dominante tipo 10 Paraplégie spastique autosomique dominante type 10 Spastische Paraplegie, autosomal-dominante, Typ 10 hrdo:pat_id_14704 604805 C537484 neant G11.4 100993 C1858106 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SPG12 SPG12 SPG12 SPG12 SPG12 Autosomal dominant spastic paraplegia type 12 Paraparésia espástica 12 Paraplegia spastica, autosomica dominante, tipo 12 Paraplejía espástica autosómica dominante tipo 12 Paraplégie spastique autosomique dominante type 12 Spastische Paraplegie, autosomal-dominante, Typ 12 hrdo:pat_id_14705 605280 C537485 neant G11.4 100994 C1854467 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SPG13 SPG13 SPG13 SPG13 SPG13 Autosomal dominant spastic paraplegia type 13 Paraparésia espástica 13 Paraplegia spastica, autosomica dominante, tipo 13 Paraplejía espástica autosómica dominante tipo 13 Paraplégie spastique autosomique dominante type 13 Spastische Paraplegie, autosomal-dominante, Typ 13 hrdo:pat_id_14706 605229 C537486 neant G11.4 100995 C1854568 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SPG14 SPG14 SPG14 SPG14 SPG14 Autosomal recessive spastic paraplegia type 14 Paraparésia espástica 14 Paraplegia spastica, autosomica recessiva, tipo 14 Paraplejía espástica autosómica recesiva tipo 14 Paraplégie spastique autosomique récessive type 14 Spastische Paraplegie, autosomal-rezessive, Typ 14 hrdo:pat_id_14707 270700 C536642 neant G11.4 100996 C1849128 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Kjellin syndrome Kjellin-Syndrom Paraplegia spastica - degenerazione retinica Paraplejía espástica - degeneración retiniana Paraplégie spastique - dégénération rétinienne SPG15 SPG15 SPG15 SPG15 SPG15 Sindrome di Kjellin Spastic paraplegia - retinal degeneration Spastische Paraplegie - Netzhautdegeneration Syndrome de Kjellin Síndrome de Kjellin Autosomal recessive spastic paraplegia type 15 Paraparésia espástica 15 Paraplegia spastica, autosomica recessiva, tipo 15 Paraplejía espástica autosómica recesiva tipo 15 Paraplégie spastique autosomique récessive type 15 Spastische Paraplegie, autosomal-rezessive, Typ 15 hrdo:pat_id_14708 300266 C536643 neant G11.4 100997 C1846046 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SPG16 SPG16 SPG16 SPG16 Paraparésia espástica 16 Paraplegia spastica legata all'X, tipo 16 Paraplejía espástica ligada al X tipo 16 Paraplégie spastique liée à l'X type 16 Spastische Paraplegie, X-chromosomale, Typ 16 X-linked spastic paraplegia type 16 hrdo:pat_id_14709 270685 neant G11.4 100998 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Distal hereditary motor neuropathy type 5B HMN5B HMN5B Neuropathie motrice héréditaire distale type 5B Neuropathie, distale hereditäre motorische, Typ 5B Neuropatia motoria distale ereditaria, tipo 5B Neuropatía motora distal hereditaria tipo 5B Paraplegia spastica - amiotrofia delle mani e dei piedi Paraplejía espástica - amiotrofia de manos y pies Paraplégie spastique - amyotrophie des pieds et des mains SPG17 SPG17 SPG17 SPG17 SPG17 Silver Syndrome Silver-Syndrom Sindrome di Silver Spastic paraplegia-amyotrophy of hands and feet Spastische Paraplegie - Amyotrophie der Hände und Füße Syndrome de Silver Síndrome de Silver dHMN5B dHMN5B dHMN5B Autosomal dominant spastic paraplegia type 17 Paraparésia espástica 17 Paraplegia spastica, autosomica dominante, tipo 17 Paraplejía espástica autosómica dominante tipo 17 Paraplégie spastique autosomique dominante type 17 Spastische Paraplegie, autosomal-dominante, Typ 17 hrdo:pat_id_1471 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 210740 C537902 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28nanism+OR+dwarfism%29+AND+ataxia+AND+%28Gonadal+Hormones/df+OR+gonadal+insufficiency%29 E31.8 1227 C0342284 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atassia - diabete - gozzo - insufficienza gonadica Ataxia - diabetes - goiter - gonadal insufficiency Ataxie - Diabetes - Gicht - gonadale Insuffizienz Ataxie - diabète - goître - insuffisance gonadique Bangstad syndrome Bangstad-Syndrom Sindrome di Bangstad Syndrome de Bangstad Síndrome de Bangstad Síndrome de Bangstad hrdo:pat_id_14710 607152 C536856 neant G11.4 100999 C1846685 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SPG19 SPG19 SPG19 SPG19 SPG19 Autosomal dominant spastic paraplegia type 19 Paraparésia espástica 19 Paraplegia spastica, autosomica dominante, tipo 19 Paraplejía espástica autosómica dominante tipo 19 Paraplégie spastique autosomique dominante type 19 Spastische Paraplegie, autosomal-dominante, Typ 19 hrdo:pat_id_14711 275900 neant G11.4 101000 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Childhood-onset spastic paraparesis - distal muscle wasting Paraparesis espástica de aparición en la infancia - atrofia de los músculos distales Paraparésie spastique de l'enfance - fonte musculaire distale Paraplegia spastica a esordio infantile - atrofia muscolare distale SPG20 SPG20 SPG20 SPG20 SPG20 Sindrome di Troyer Spastische Paraplegie, hereditäre - distaler Muskelschwund Syndrome de Troyer Síndrome de Troyer Troyer syndrome Troyer-Syndrom Autosomal recessive spastic paraplegia type 20 Paraparésia espástica 20 Paraplegia spastica, autosomica recessiva, tipo 20 Paraplejía espástica autosómica recesiva tipo 20 Paraplégie spastique autosomique récessive type 20 Spastische Paraplegie, autosomal-rezessive, Typ 20 hrdo:pat_id_14712 248900 neant G11.4 101001 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Mast syndrome Mast-Syndrom SPG21 SPG21 SPG21 SPG21 SPG21 Sindrome di Mast Syndrome de Mast Síndrome de Mast Autosomal recessive spastic paraplegia type 21 Paraparésia espástica 21 Paraplegia spastica, autosomica recessiva, tipo 21 Paraplejía espástica autosómica recesiva tipo 21 Paraplégie spastique autosomique récessive type 21 Spastische Paraplegie, autosomal-rezessive, Typ 21 hrdo:pat_id_14714 270750 neant G11.4 101003 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Lison syndrome Lison-Syndrom Paraparesi spastica - vitiligine - incanutimento prematuro - facies caratteristica Paraparesis espástica - vitíligo - canicie precoz - facies característica Paraparésie spastique - vitiligo - cheveux gris prématurés - visage charactéristique SPG23 SPG23 SPG23 SPG23 SPG23 Sindrome di Lison Spastic paraparesis - vitiligo - premature graying - characteristic facies Spastische Paraplegie - Vitiligo - vorzeitiges Ergrauen - charakteristisches Gesicht Syndrome de Lison Síndrome de Lison Autosomal recessive spastic paraplegia type 23 Paraparésia espástica 23 Paraplegia spastica, autosomica recessiva, tipo 23 Paraplejía espástica autosómica recesiva tipo 23 Paraplégie spastique autosomique récessive type 23 Spastische Paraplegie, autosomal-rezessive, Typ 23 hrdo:pat_id_14715 607584 neant G11.4 101004 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SPG24 SPG24 SPG24 SPG24 SPG24 Autosomal recessive spastic paraplegia type 24 Paraparésia espástica 24 Paraplegia spastica, autosomica recessiva, tipo 24 Paraplejía espástica autosómica recesiva tipo 24 Paraplégie spastique autosomique récessive type 24 Spastische Paraplegie, autosomal-rezessive, Typ 24 hrdo:pat_id_14716 608220 C536861 neant G11.4 101005 C2936860 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Autosomal recessive spastic paraplegia - disc herniation Paraplegia spastica autosomica recessiva - ernia del disco Paraplejía espástica autosómica recesiva - hernia de disco Paraplégie spastique familiale - hernie discale SPG25 SPG25 SPG25 SPG25 SPG25 Spastische Paraplegie, autosomal-rezessive - Bandscheibenvorfall Autosomal recessive spastic paraplegia type 25 Paraparésia espástica 25 Paraplegia spastica, autosomica recessiva, tipo 25 Paraplejía espástica autosómica recesiva tipo 25 Paraplégie spastique autosomique récessive type 25 Spastische Paraplegie, autosomal-rezessive, Typ 25 hrdo:pat_id_14717 609195 C536862 neant G11.4 101006 C1836632 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SPG26 SPG26 SPG26 SPG26 SPG26 Autosomal recessive spastic paraplegia type 26 Paraparésia espástica 26 Paraplegia spastica, autosomica recessiva, tipo 26 Paraplejía espástica autosómica recesiva tipo 26 Paraplégie spastique autosomique récessive type 26 Spastische Paraplegie, autosomal-rezessive, Typ 26 hrdo:pat_id_14718 609041 neant G11.4 101007 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SPG27 SPG27 SPG27 SPG27 Autosomal recessive spastic paraplegia type 27 Paraparésia espástica 27 Paraplegia spastica, autosomica recessiva, tipo 27 Paraplégie spastique autosomique récessive type 27 SPG27 Spastische Paraplegie, autosomal-rezessive, Typ 27 hrdo:pat_id_14719 609340 neant G11.4 101008 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SPG28 SPG28 SPG28 SPG28 SPG28 Autosomal recessive spastic paraplegia type 28 Paraparésia espástica 28 Paraplegia spastica, autosomica recessiva, tipo 28 Paraplejía espástica autosómica recesiva tipo 28 Paraplégie spastique autosomique récessive type 28 Spastische Paraplegie, autosomal-rezessive, Typ 28 hrdo:pat_id_1472 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 109300 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Synostosis[ti]+OR+synostoses[mh]+OR+syndactyly[mh]+OR+syndactyly[Ti]%29+%28carpal+bones/ab+OR+carpal+bones[Ti]+OR+wrist+bones[ti]%29+fingers/ab Q68.1 1228 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Banki syndrome Banki-Syndrom Sindrome di Banki Syndrome de Banki Síndrome de Banki Síndrome de Banki hrdo:pat_id_14720 609727 C536863 neant G11.4 101009 C1857855 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SPG29 SPG29 SPG29 SPG29 SPG29 Autosomal dominant spastic paraplegia type 29 Paraparésia espástica 29 Paraplegia spastica, autosomica dominante, tipo 29 Paraplejía espástica autosómica dominante tipo 29 Paraplégie spastique autosomique dominante type 29 Spastische Paraplegie, autosomal-dominante, Typ 29 hrdo:pat_id_14721 610357 neant G11.4 101010 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SPG30 SPG30 SPG30 SPG30 SPG30 Autosomal recessive spastic paraplegia type 30 Paraparésia espástica 30 Paraplegia spastica, autosomica recessiva, tipo 30 Paraplejía espástica autosómica recesiva tipo 30 Paraplégie spastique autosomique récessive type 30 Spastische Paraplegie, autosomal-rezessive, Typ 30 hrdo:pat_id_14722 610250 neant G11.4 101011 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 SPG31 SPG31 SPG31 SPG31 SPG31 Autosomal dominant spastic paraplegia type 31 Paraparésia espástica 31 Paraplegia spastica, autosomica dominante, tipo 31 Paraplejía espástica autosómica dominante tipo 31 Paraplégie spastique autosomique dominante type 31 Spastische Paraplegie, autosomal-dominante, Typ 31 hrdo:pat_id_14727 Variabel Variabile Variable Variable Variable Variable Variável 192500 600919 603830 611818 611819 611820 612955 613485 613688 613693 613695 D029597 10039211 neant I45.8 101016 20852007 C0035828 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Romano-Ward long QT syndrome Syndrome du QT long type Romano-Ward Romano-Ward Long-QT-Syndrom Romano-Ward syndrome Sindrome di Romano-Ward Syndrome de Romano-Ward Síndrome de Romano-Ward Síndrome do QT longo de Romano-Ward hrdo:pat_id_1473 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 153480 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28bannayan+AND+riley+AND+ruvalcaba%29+OR+bannayan+riley+ruvalcaba+OR+ruvalcaba+myhre+smith Q87.8 109 21984008 234138005 46011003 C0265326 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Bannayan-Riley-Ruvalcaba syndrome Bannayan-Riley-Ruvalcaba-Syndrom Sindrome di Bannayan-Riley-Ruvalcaba Syndrome de Bannayan-Riley-Ruvalcaba Síndrome de Bannayan-Riley-Ruvalcaba Síndrome de Bannayan-Riley-Ruvalcaba hrdo:pat_id_14733 210250 neant D69.1 101022 60628003 C0272281 disease Macrothrombocytopénie méditérranéenne Macrotrombocitopenia Mediterranea Macrotrombocitopenia mediterránea Macrotrombocitopenia mediterrânea Makrothrombozytopenie, mediterrane Mediterranean macrothrombocytopenia hrdo:pat_id_14734 neant Q35.1 101023 clinical subtype Fisura del paladar blando Spaltbildung des weichen Gaumens (Gaumensegel) Cleft hard palate Fenda do palato duro Fente du palais dur Fisura del paladar duro Schisi del palato duro Spaltbildung des harten Gaumens hrdo:pat_id_14739 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 606003 neant E74.8 101028 124252008 C1291329 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 TALDO TALDO TALDO TALDO Deficit di transaldolasi Déficit de transaldolasa Déficit en transaldolase Hidrópsia fetal por deficiência de transaldolase Transaldolase deficiency Transaldolase-Mangel hrdo:pat_id_1474 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 251290 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(infection+like%5Bti%5D+OR+Intrauterine+infection%5Bti%5D)+(intracranial+calcification+OR+brain+calcinosis) Q87.8 1229 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Baraitser-Brett-Piesowicz syndrome Baraitser-Brett-Piesowicz-Syndrom Baraitser-Reardon syndrome Baraitser-Reardon-Syndrom Microcephaly - intracranial calcification - intellectual deficit Microcéphalie - calcifications intracrâniennes - déficit intellectuel Mikrozephalie - intrakraniale Verkalkungen - Intelligenzminderungen Pseudo-TORCH syndrome Pseudo-TORCH-Syndrom Syndrome de Baraitser-Brett-Piesowicz Syndrome de Baraitser-Reardon Syndrome pseudo-TORCH Congenital intrauterine infection-like syndrome Intrauterines infektionsähnliches Syndrom, kongenitales Microcefalia - calcificações intracranianas Sindrome congenita da danni simili alle infezioni prenatali Syndrome congénital d'infection-like intra-utérine Síndrome de Baraitser-Brett-Piesowicz hrdo:pat_id_14740 neant Q04.8 101029 clinical subtype Eterotopia nodulare sottocorticale Heterotopia nodular sub-cortical Heterotopia nodular, sub-cortical Heterotopie, noduläre subkortikale Hétérotopie nodulaire sous-corticale Sub-cortical nodular heterotopia hrdo:pat_id_14741 neant Q04.8 101030 clinical subtype Eterotopia nodulare sottoependimale Heterotopia nodular subependimal Heterotopia nodular subependimária Heterotopie, noduläre subependymale Hétérotopie nodulaire sous-épendymaire Subependymal nodular heterotopia hrdo:pat_id_14744 C537885 neant Q15.8 101033 C2931652 clinical subtype Anomalia de Peters - cataratas Anomalia di Peters - cataratta Anomalie de Peters - cataracte Anomalía de Peters - catarata Peters Anomalie - Katarakt Peters anomaly - cataract hrdo:pat_id_14747 101036 malformation syndrome Sindrome di Zlotogura-Martinez Syndrome de Zlotogura-Martinez Síndrome de Zlotogura-Martinez Síndrome de Zlotogura-Martinez Zlotogura-Martinez syndrome Zlotogura-Martinez-Syndrom hrdo:pat_id_14750 300088 neant 101039 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown clinical subtype EFMR EFMR EFMR EFMR EFMR Familial epilepsy and mental retardation limited to females Epilepsia en la mujer, con déficit intelectual Epilepsia, restrita ao sexo feminino, com atraso mental Epilepsie de la femme avec déficit intellectuel Epilepsie mit geistiger Retardierung, auf das weibl. Geschl. beschränkt Epilessia limitata alle femmine associata a deficit cognitivo Female restricted epilepsy with intellectual deficit hrdo:pat_id_14752 Variabel Variabile Variable Variable Variable Variable Variável 202400 neant D68.2 101041 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Familial hypofibrinogenemia Hipofibrinogenemia familiar Hipofibrinogenemia familiar Hypofibrinogenämie, familiäre Hypofibrinogénémie familiale Ipofibrinogenemia familiare hrdo:pat_id_14753 neant Q20.1 101042 clinical subtype Sindrome di Taussig-Bing Syndrome de Taussig-Bing Síndrome de Taussig-Bing Síndrome de Taussig-Bing Taussig-Bing syndrome Taussig-Bing-Syndrom hrdo:pat_id_14754 neant Q23.0 101043 253604004 C0344993 clinical subtype Aortenklappendysplasie Aortic valve dysplasia Displasia aortica valvolare Displasia da válvula aórtica Displasia de la válvula aórtica Dysplasie valvulaire aortique hrdo:pat_id_14757 600512 neant 101046 disease ADLTE ADLTE ADLTE ADLTE ADLTE ADPEAF Epilepsie partielle avec aura auditifs Partial epilepsy with auditory aura Partial epilepsy with auditory features Autosomal dominant lateral temporal lobe epilepsy Epilepsia do lobo temporal lateral, autossómica dominante Epilepsia lateral del lóbulo temporal, autosómica dominante Epilepsie du lobe temporal latéral autosomique dominante Epilessia del lobo temporale, autosomica dominante Temporallappen-Epilepsie, laterale, autosomal-dominante hrdo:pat_id_1476 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 209885 C537908 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Barber+say+syndrome%5Btw%5D+OR+%28%28hirsut*+OR+Hypertricho*%29+%28atrophic+skin+OR+Skin+Abnormalities%5Bmh%5D%29+ectropion+macrostom*%29 Q87.0 1231 408537003 C1319466 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hipertricose - atrofia cutânea - ectrópio - macrostomia Hypertrichose - Hautatrophie - Ektropium - Makrostomie Hypertrichose - peau atrophique - ectropion - macrostomie Hypertrichosis - atrophic skin - ectropion - macrostomia Ipertricosi - atrofia cutanea - ectropion - macrostomia Barber-Say syndrome Barber-Say-Syndrom Sindrome di Barber-Say Syndrome de Barber-Say Síndrome de Barber-Say Síndrome de Barber-Say hrdo:pat_id_14760 145981 C537146 neant E83.5 101049 C2931427 etiological subtype FHH tipo 2 FHH type 2 FHH type 2 Familial hypocalciuric hypercalcemia type 2 Hipercalcemia hipocalciúrica familiar tipo 2 Hipercalcemia hipocalciúrica, familiar, tipo 2 Hypercalcémie hypocalciurique familiale type 2 Hyperkalzämie, familiäre hypokalziurische, Typ 2 Ipercalcemia ipocalcinuria familiare, tipo 2 hrdo:pat_id_14761 600740 C537147 neant E83.5 101050 C1833372 etiological subtype FHH tipo 3 FHH type 3 FHH type 3 Familial hypocalciuric hypercalcemia type 3 Hipercalcemia hipocalciúrica familiar tipo 3 Hipercalcemia hipocalciúrica, familiar, tipo 3 Hypercalcémie hypocalciurique familiale type 3 Hyperkalzämie, familiäre hypokalziurische, Typ 3 Ipercalcemia ipocalcinuria familiare, tipo 3 hrdo:pat_id_14763 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q04.3 101052 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Microlisencefalia, tipo B Microlisencefalia, tipo B Microlissencefalia, tipo B Microlissencephaly type B Microlissencéphalie type B Mikrolissenzephalie Typ B hrdo:pat_id_14774 270100 601086 614779 neant Q89.3 101063 morphological anomaly Complete situs inversus Complete situs inversus viscerum Situs inversus Situs inversus Situs inversus Situs inversus Situs inversus complet Situs inversus completo Situs inversus totalis Situs inversus viscerum completo Situs inversus viscerum, kompletter Situs inversus, kompletter Heterotaxia viscero-atrial Heterotaxia viscero-auricular Situs inversus total Situs inversus totalis Situs inversus totalis Situs inversus totalis hrdo:pat_id_14779 Variabel Variabile Variable Variable Variable Variable Variável 610048 neant H18.5 101068 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CSCD CSCD CSCD CSCD CSCD Congenital hereditary stromal dystrophy Distrofia de Witschel Distrofia di Witschel Distrofia estromal hereditaria congénita Distrofia stomale ereditaria congenita Dystrophie de Witschel Dystrophie stromale congénitale héréditaire Witschel dystrophy Witschel-Dystrophie Congenital stromal corneal dystrophy Distrofia corneal estromal congénita Distrofia corneale stromale congenita Distrofia da córnea, congénita, hereditária, tipo estroma de Turpin Dystrophie cornéenne stromale congénitale Hornhautdystrophie, stromale, kongenitale hrdo:pat_id_1478 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 263650 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Bartsocas+papas%5Btw%5D+OR+%28Popliteal+pterygium%5Bti%5D+AND+lethal%5Btw%5D%29 Q87.2 1234 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Autosomal recessive popliteal pterygium syndrome Lethal popliteal pterygium syndrome Popliteales Pterygium-Syndrom, autosomal-rezessives Popliteales Pterygium-Syndrom, letaler Typ Pterígio poplíteo autossómico recessivo, síndrome Pterígio poplíteo, tipo letal, síndrome Sindrome dello pterigio popliteo autosomica recessiva Sindrome dello pterigio popliteo letale Syndrome de la bride poplitée autosomique récessif Syndrome de ptérygiums poplités autosomique récessif Syndrome létal de la bride poplitée Syndrome létal de ptérygiums poplités Síndrome de pterigium poplíteo autosómico recesivo Síndrome de pterigium poplíteo letal Síndrome pterígio poplíteo autossómico recessivo Síndrome pterígio poplíteo, tipo letal Bartsocas-Papas syndrome Bartsocas-Papas-Syndrom Sindrome di Bartsocas-Papas Syndrome de Bartsocas-Papas Síndrome de Bartsocas-Papas Síndrome de Bartsocas-Papas hrdo:pat_id_14781 606854 neant Q04.3 101070 clinical subtype Bilateral frontoparietal polymicrogyria Polimicrogiria bilateral frontoparietal Polimicrogiria bilaterale frontoparietale Polimicrogiria, bilateral, frontoparietal Polymicrogyrie bilatérale frontopariétale Polymikrogyrie, bilaterale frontoparietale hrdo:pat_id_14782 neant Q04.3 101071 clinical subtype Polimicrogiria emisferica unilaterale Polimicrogiria unilateral hemisférica Polimicrogiria, unilateral, do lado direito Polymicrogyrie unilatérale hémisphérique Polymikrogyrie, hemisphärische unilaterale Unilateral hemispheric polymicrogyria hrdo:pat_id_14786 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 302800 C535919 neant G60.0 101075 C0393808 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant disease CMT1X CMT1X CMT1X CMT1X CMTX1 CMTX1 Charcot-Marie-Tooth-Krankheit, X-chromosomale, Typ 1 Doença de Charcot-Marie-Tooth, ligada ao X, tipo 1 Enfermedad de Charcot-Marie-Tooth tipo 1, ligada al X Maladie de Charcot-Marie-Tooth liée à l'X type 1 Malattia di Charcot-Marie-Tooth legata all'X, tipo 1 X-linked Charcot-Marie-Tooth disease type 1 hrdo:pat_id_14787 302801 neant G60.0 101076 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease CMT2X CMT2X CMT2X CMT2X CMT2X CMTX2 CMTX2 Charcot-Marie-Tooth tipo 2, ligada al X Charcot-Marie-Tooth-Krankheit, X-chromosomale, Typ 2 Doença de Charcot-Marie-Tooth, ligada ao X, tipo 2 Maladie de Charcot-Marie-Tooth liée à l'X type 2 Malattia di Charcot-Marie-Tooth legata all'X, tipo 2 X-linked Charcot-Marie-Tooth disease type 2 hrdo:pat_id_14788 302802 neant G60.0 101077 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease CMT3X CMT3X CMT3X CMT3X CMT3X CMTX3 CMTX3 Charcot-Marie-Tooth tipo 3, ligada al X Charcot-Marie-Tooth-Krankheit, X-chromosomale, Typ 3 Doença de Charcot-Marie-Tooth, ligada ao X, tipo 3 Maladie de Charcot-Marie-Tooth liée à l'X type 3 Malattia di Charcot-Marie-Tooth legata all'X, tipo 3 X-linked Charcot-Marie-Tooth disease type 3 hrdo:pat_id_14789 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 310490 neant G60.0 101078 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CMT4X CMT4X CMT4X CMT4X CMT4X CMTX4 CMTX4 Cowchock syndrome Cowchock-Syndrom Sindrome di Cowchock Syndrome de Cowchock Síndrome de Cowchock Charcot-Marie-Tooth tipo 4, ligada al X Charcot-Marie-Tooth-Krankheit, X-chromosomale, Typ 4 Doença de Charcot-Marie-Tooth, ligada ao X, tipo 4 Maladie de Charcot-Marie-Tooth liée à l'X type 4 Malattia di Charcot-Marie-Tooth legata all'X, tipo 4 X-linked Charcot-Marie-Tooth disease type 4 hrdo:pat_id_1479 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 129200 1235 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Basan syndrome Displasia ectodermica - assenza dei dermatoglifi Dysplasie ectodermique - dermatoglyphes absents Dysplasie, ektodermale - fehlende Dermatoglyphen Basan-Syndrom Displasia ectodérmica - dermatóglifos ausentes Ectodermal dysplasia - absent dermatoglyphs Sindrome di Basan Syndrome de Basan Síndrome de Basan hrdo:pat_id_14792 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 118220 neant G60.0 101081 40632002 C0270911 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 CMT1A CMT1A CMT1A Microduplication 17p12 Microduplication 17p12 Microduplicazione 17p12 Mikroduplikation 17p12 Charcot-Marie-Tooth disease type 1A Charcot-Marie-Tooth-Krankheit Typ 1A Doença de Charcot-Marie-Tooth, tipo 1A Enfermedad de Charcot-Marie-Tooth tipo 1A Maladie de Charcot-Marie-Tooth type 1A Malattia di Charcot-Marie-Tooth, tipo 1A hrdo:pat_id_14793 Adulte jeune Adultos jóvenes Giovani adulti Jovem adulto Junge Erwachsene Young adult Young adult Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 118200 neant G60.0 101082 42986003 C0270912 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease CMT1B CMT1B CMT1B CMT1B Charcot-Marie-Tooth disease type 1B Charcot-Marie-Tooth-Krankheit Typ 1B Doença de Charcot-Marie-Tooth, tipo 1B Enfermedad de Charcot-Marie-Tooth tipo 1B Maladie de Charcot-Marie-Tooth type 1B Malattia di Charcot-Marie-Tooth, tipo 1B hrdo:pat_id_14794 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 601098 C537984 neant G60.0 101083 4183003 C0270913 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CMT1C CMT1C CMT1C CMT1C CMT1C Charcot-Marie-Tooth disease type 1C Charcot-Marie-Tooth tipo 1C Charcot-Marie-Tooth-Krankheit Typ 1C Doença de Charcot-Marie-Tooth, tipo 1C Maladie de Charcot-Marie-Tooth type 1C Malattia di Charcot-Marie-Tooth, tipo 1C hrdo:pat_id_14795 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 607678 C537985 neant G60.0 101084 C1843247 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease CMT1D CMT1D CMT1D CMT1D Charcot-Marie-Tooth disease type 1D Charcot-Marie-Tooth-Krankheit Typ 1D Doença de Charcot-Marie-Tooth, tipo 1D Enfermedad de Charcot-Marie-Tooth tipo 1D Maladie de Charcot-Marie-Tooth type 1D Malattia di Charcot-Marie-Tooth, tipo 1D hrdo:pat_id_14796 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 607734 neant G60.0 101085 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease CMT1F CMT1F CMT1F CMT1F CMT1F Charcot-Marie-Tooth disease type 1F Charcot-Marie-Tooth tipo 1F Charcot-Marie-Tooth-Krankheit Typ 1F Doença de Charcot-Marie-Tooth, tipo 1F Maladie de Charcot-Marie-Tooth type 1F Malattia di Charcot-Marie-Tooth, tipo 1F hrdo:pat_id_14799 308230 neant D80.5 101088 clinical subtype HIGM1 HIGM1 HIGM1 HIGM1 HIGM1 Hyper-IgM syndrome due to CD40 ligand deficiency Hyper-IgM syndrome due to CD40L deficiency Hyper-IgM syndrome type 1 Hyper-IgM-Syndrom Typ 1 Hyper-IgM-Syndrom durch CD40-Liganden-Mangel Sindrome iper-IgM da deficit del CD40 ligando Sindrome iper-IgM da deficit di CD40L Sindrome iper-IgM, tipo 1 Syndrome hyper-IgM dû au déficit en CD40 ligand Syndrome hyper-IgM dû au déficit en CD40L Syndrome hyper-IgM type 1 Síndrome de hiper-IgM por deficiencia de CD40L Síndrome de hiper-IgM por deficiencia del ligando de CD40 Síndrome de hiper-IgM por déficit de CD40L Síndrome de hiper-IgM por déficit del ligando de CD40 Síndrome de hiper-IgM tipo 1 XHIGM XHIGM XHIGM XHIGM XHIGM Hyper-IgM-Syndrom, X-chromosomales Sindrome iper-IgM legata all'X Syndrome hyper-IgM lié à l'X Síndrome de hiper-IgM ligado al X Síndrome hiper-IgM tipo 1 X-linked hyper-IgM syndrome hrdo:pat_id_148 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 100800 D000130 10000452 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22Achondroplasia%22%5BMeSH+Major+Topic%5D+AND+%22humans%22%5BMeSH+Terms%5D Q77.4 15 86268005 C0001080 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Nanismo acondroplástico Achondroplasia Achondroplasie Achondroplasie Acondroplasia Acondroplasia Acondroplasia hrdo:pat_id_1480 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=%22Bd+syndrome%22%5BAll+Fields%5D 1236 malformation syndrome Bd syndrome Déficit intellectuel - athétose - microphtalmie Geistige Retardierung - Athetose - Mikrophthalmie Ritardo mentale - atetosi - microftalmia Síndrome Bd Bd-Syndrom Déficit intelectual - atetosis - microftalmia Intellectual deficit - athetosis- microphthalmia Retardação mental - atetose - microftalmia Sindrome BD Syndrome Bd hrdo:pat_id_14800 605258 neant D80.5 101089 clinical subtype AID deficiency AID-Mangel Activation-induced Cytidine-Deaminase-Mangel Activation-induced cytidine deaminase deficiency Deficit di AID Deficit di citidina deaminasi indotta da attivazione Déficit de AID Déficit de citidina deaminasa inducida por activación Déficit en AID Déficit en activation-induced cytidine deaminase HIGM2 HIGM2 HIGM2 HIGM2 HIGM2 Hyper-IgM syndrome type 2 Hyper-IgM-Syndrom Typ 2 Sindrome iper-IgM, tipo 2 Syndrome hyper-IgM type 2 Síndrome de hiper-IgM tipo 2 Síndrome hiper-IgM tipo 2 hrdo:pat_id_14801 606843 neant D80.5 101090 clinical subtype HIGM3 HIGM3 HIGM3 HIGM3 HIGM3 Hyper-IgM syndrome due to CD40 deficiency Hyper-IgM-Syndrom durch CD40-Mangel Sindrome iper-IgM da deficit di CD40 Syndrome hyper-IgM dû au déficit en CD40 Síndrome de hiper-IgM por déficit de CD40 Hyper-IgM syndrome type 3 Hyper-IgM-Syndrom Typ 3 Sindrome iper-IgM, tipo 3 Syndrome hyper-IgM type 3 Síndrome de hiper-IgM tipo 3 Síndrome hiper-IgM tipo 3 hrdo:pat_id_14802 608184 neant D80.5 101091 clinical subtype HIGM4 HIGM4 HIGM4 HIGM4 Hyper-IgM syndrome type 4 Hyper-IgM-Syndrom Typ 4 Sindrome iper-IgM, tipo 4 (HIGM4) Syndrome hyper-IgM type 4 Síndrome hiper-IgM tipo 4 Síndrome hiper-IgM tipo 4 hrdo:pat_id_14803 608106 neant D80.5 101092 clinical subtype HIGM5 HIGM5 HIGM5 HIGM5 HIGM5 Hyper-IgM syndrome due to UNG deficiency Hyper-IgM syndrome due to uracil N glycosylase Hyper-IgM syndrome durch Uracil-N-Glycosylase-Mangel Hyper-IgM-Syndrom durch UNG-Mangel Sindrome iper-IgM da deficit di UNG Sindrome iper-IgM da deficit di uracil-N-glicosilasi Syndrome hyper-IgM dû au déficit en UNG Syndrome hyper-IgM dû au défict en uracile N glycosylase Síndrome de hiper-IgM por déficit de UNG Síndrome de hiper-IgM por déficit de uracil N glicosilasa Hyper-IgM syndrome type 5 Hyper-IgM-Syndrom Typ 5 Sindrome iper-IgM, tipo 5 Syndrome hyper-IgM type 5 Síndrome de hiper-IgM tipo 5 Síndrome hiper-IgM tipo 5 hrdo:pat_id_14807 neant D46.7 101096 89112009 C0553669 disease Anemia arregenerativa Anemia arregenerativa Anemia rigenerativa Anämie, aregenerative Anémie arégénérative Aregenerative anemia hrdo:pat_id_14808 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 607706 607831 neant G60.0 101097 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown AR-CMT con voz ronca ARCMT2K ARCMT2K ARCMT2K Autosomal recessive axonal CMT4C4 Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K CMT4C4 assonale autosomica recessiva CMT4C4 axonale autosomique recessive Maladie de Charcot-Marie-Tooth axonale autosomique recessive type 2K Malattia di Charcot-Marie-Tooth assonale, autosomica recessiva, tipo 2K Autosomal recessive Charcot-Marie-Tooth disease with hoarseness Charcot-Marie-Tooth-Krankheit mit Heiserkeit, autosomal-rezessiv Doença de Charcot-Marie-Tooth com rouquidão, autossómica recessiva Enfermedad de Charcot-Marie-Tooth autosómica recesiva con ronquera Maladie de Charcot-Marie-Tooth autosomique récessive avec raucité Malattia di Charcot-Marie-Tooth, autosomica recessiva, con voce roca hrdo:pat_id_1481 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 121050 C536211 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Beals+Hecht%5Btw%5D+OR+Beals+syndrome%5Btw%5D+OR+Congenital+contractural+arachnodactyly%5Btw%5D Q87.8 115 205821003 C0220668 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Arthrogrypose distale type 9 Arthrogrypose, distale, Typ 9 Artrogripose distal tipo 9 Artrogriposi distale, tipo 9 Artrogriposis distal tipo 9 Beals syndrome Beals-Hecht syndrome Beals-Hecht, síndrome de Beals-Hecht-Syndrom Beals-Syndrom CCA syndrome CCA, síndrome (aracnodactilia contratural congénita) CCA-Syndrom Distal arthrogryposis type 9 Sindrome CCA Sindrome di Beals Sindrome di Beals-Hecht Syndrome CCA Syndrome de Beals Syndrome de Beals-Hecht Síndrome ACC Síndrome CCA (aracnodactilia contratural congénita) Síndrome de Beals Síndrome de Beals-Hecht Síndrome de Beals-Hecht Arachnodactylie congénitale avec contractures Arachnodaktylie, kongenitale kontrakturale Aracnodactilia congénita contractural Congenital contractural arachnodactyly Sindrome contratture-aracnodattilia congenita Síndrome de Beals hrdo:pat_id_14812 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 605589 C537991 neant G60.0 101101 C1854150 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 AR-CMT2B2 AR-CMT2B2 AR-CMT2B2 Autosomal recessive axonal CMT4C3 Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2 CMT4C3 assonale, autosomica recessiva CMT4C3 axonale autosomique récessive CMT4C3, axonale, autosomal-rezessive Charcot-Marie-Tooth-Krankheit, axonale, autosomal-rezessive, Typ 2B2 Maladie de Charcot-Marie-Tooth type 2B2 axonale autosomique récessive Malattia assonale di Charcot-Marie-Tooth, autosomica recessiva, tipo 2B2 Charcot-Marie-Tooth disease type 2B2 Charcot-Marie-Tooth-Krankheit Typ 2B2 Doença de Charcot-Marie-Tooth, tipo 2B2 Enfermedad de Charcot-Marie-Tooth tipo 2B2 Maladie de Charcot-Marie-Tooth type 2B2 Malattia di Charcot-Marie-Tooth, tipo 2B2 hrdo:pat_id_14813 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 607731 C535415 neant G60.0 101102 C1843173 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 AR-CMT2C AR-CMT2C AR-CMT2C AR-CMT2C Autosomal recessive axonal CMT4C2 Axonal Charcot-Marie-Tooth disease with pyramidal involvement CMT4C2 assonale, autosomica recessiva CMT4C2 axonal autosómica recesiva CMT4C2 axonale autosomique récessive Charcot-Marie-Tooth-Krankheit, axonal, mit Pyramidenbahn-Beteiligung Enfermedad de Charcot-Marie-Tooth axonal con afectación piramidal Maladie de Charcot-Marie-Tooth axonale type 2 avec atteinte pyramidale Malattia assonale di Charcot-Marie-Tooth con coinvolgimento piramidale Charcot-Marie-Tooth disease type 2H Charcot-Marie-Tooth-Krankheit Typ 2H Doença de Charcot-Marie-Tooth tipo 2C Enfermedad de Charcot-Marie-Tooth de tipo 2H Maladie de Charcot-Marie-Tooth type 2H Malattia di Charcot-Marie-Tooth, tipo 2H hrdo:pat_id_14815 neant Q07.8 101104 clinical subtype Marin-Amat syndrome Marin-Amat-Syndrom Sindrome di Marin-Amat Syndrome de Marin-Amat Síndrome Marin-Amat Síndrome de Marin-Amat hrdo:pat_id_14817 101106 clinical subtype Chemodectoma non secernente Chemodektom, nicht-sezernierendes Chémodectome non sécrétant Non secreting chemodectoma Quemodectoma, no secretante Quemodectoma, não-secretor hrdo:pat_id_14818 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 607346 C542540 neant G11 101107 C2746067 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SCA22 SCA22 SCA22 SCA22 SCA22 SCA22 Atassia spinocerebellare, tipo 22 Ataxia espinocerebelosa, tipo 22 Ataxia espinocerebolosa tipo 22 Ataxie spinocérébelleuse type 22 Ataxie, spinozerebelläre, Typ 22 Spinocerebellar ataxia type 22 hrdo:pat_id_14819 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 610245 C537201 neant G11 101108 C1853250 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SCA23 SCA23 SCA23 SCA23 SCA23 SCA23 Atassia spinocerebellare, tipo 23 Ataxia espinocerebelosa, tipo 23 Ataxia espinocerebolosa tipo 23 Ataxie spinocérébelleuse type 23 Ataxie, spinozerebelläre, Typ 23 Spinocerebellar ataxia type 23 hrdo:pat_id_1482 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 109000 C538271 114 C1862381 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Auriculo-osteo-displasia Auriculo-osteodisplasia Auriculo-ostéodysplasie Auriculoosteodysplasia Aurikulo-Osteo-Dysplasie Displasia osteo-auricolare hrdo:pat_id_14820 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 610246 C537205 neant G11 101109 C1853249 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown SCA28 SCA28 SCA28 SCA28 SCA28 SCA28 Atassia spinocerebellare, tipo 28 Ataxia espinocerebelosa, tipo 28 Ataxia espinocerebolosa tipo 28 Ataxie spinocérébelleuse type 28 Ataxie, spinozerebelläre, Typ 28 Spinocerebellar ataxia type 28 hrdo:pat_id_14821 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 608687 C537199 neant G11 101110 C1837541 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SCA20 SCA20 SCA20 SCA20 SCA20 SCA20 Atassia spinocerebellare, tipo 20 Ataxia espinocerebelosa, tipo 20 Ataxia espinocerebolosa tipo 20 Ataxie spinocérébelleuse type 20 Ataxie, spinozerebelläre, Typ 20 Spinocerebellar ataxia type 20 hrdo:pat_id_14822 Variabel Variabile Variable Variable Variable Variable Variável 608703 C537202 neant G11 101111 C1837518 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SCA25 SCA25 SCA25 SCA25 SCA25 SCA25 Atassia spinocerebellare, tipo 25 Ataxia espinocerebelosa, tipo 25 Ataxia espinocerebolosa tipo 25 Ataxie spinocérébelleuse type 25 Ataxie, spinozerebelläre, Typ 25 Spinocerebellar ataxia type 25 hrdo:pat_id_14823 609306 C537203 neant G11 101112 C1836395 disease SCA26 SCA26 SCA26 SCA26 SCA26 SCA26 Atassia spinocerebellare, tipo 26 Ataxia espinocerebelosa, tipo 26 Ataxia espinocerebolosa tipo 26 Ataxie spinocérébelleuse type 26 Ataxie, spinozerebelläre, Typ 26 Spinocerebellar ataxia type 26 hrdo:pat_id_14826 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 605407 neant G24.1 101150 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Autosomal recessive Segawa syndrome Deficit di tirosina idrossilasi Déficit en tyrosine hydroxylase Segawa-Syndrom, autosomal-rezessives Sindrome di Segawa, autosomica recessiva Syndrome de Segawa autosomique recessif Tyrosin-Hydroxylase-Mangel Tyrosine hydroxylase deficiency Autosomal recessive dopa-responsive dystonia Distonia Dopa-sensibile, autosomica recessiva Distonia dopa-sensible autosómica recesiva Distonia sensível à dopa, autossómica recessiva Dystonie dopa-sensible autosomique récessive Dystonie, dopa-responsive, autosomal-rezessive hrdo:pat_id_14827 neant 101151 disease DYT14 DYT14 Distonia 14 Distonia 14 (DYT14) Distonia 14 (DYT14) Dystonia 14 Dystonie 14 Dystonie 14 (DYT14) hrdo:pat_id_1483 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 209970 C537668 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Beemer+von+Ertbruggen+OR+%28hydrocephalus+AND+heart+defects%2C+congenital+AND+dense+bone*%29 Q87.8 1237 C1859526 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Beemer-Ertbruggen syndrome Beemer-Ertbruggen-Syndrom Sindrome di Beemer-Ertbruggen Syndrome de Beemer-Ertbruggen Síndrome de Beemer-Ertbruggen Síndrome de Beemer-Ertbruggen hrdo:pat_id_14834 neant Q22.2 101206 malformation syndrome APV/ADA, Fallot type AVP/ACA type Fallot Absence of pulmonary valve - Fallot's tetralogy - absence of ductus arteriosus Fallot-Typ PVA/ADA PVA/ADA tipo Fallot PVA/ADA, Fallot type PVA/ADA, tipo Fallot Agenesia da válvula pulmonar - Tetralogia de Fallot - ausência de canal arterial (tipo Fallot PVA/ADA) Agenesia della valvola polmonare - tetralogia di Fallot - assenza del dotto arterioso Agenesia válvular pulmonar - tetralogía de Fallot - ausencia de ductus arteriosus Agénésie de la valve pulmonaire - tétralogie de Fallot - absence du canal artériel Pulmonalklappenagenesie - Fallot-Tetralogie - fehlender Ductus arteriosus Pulmonary valve agenesis - Fallot's tetralogy - absence of ductus arteriosus hrdo:pat_id_14841 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 176090 176100 D017119 10036183 neant E80.1 101330 61860000 C0162566 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 PCT PCT Porfiria cutanea tarda (PCT) Porfiria cutánea tarda (PCT) Porfiria cutânea tardia Porphyria cutanea tarda Porphyria cutanea tarda (PCT) Porphyrie cutanée tardive hrdo:pat_id_14845 neant A77.1 101334 etiological subtype African tick typhus African tick typhus Afrikanisches Zeckenbissfieber Tifo africano da zecche Tifus indio, transmitido por garrapatas Typhus à tiques africain hrdo:pat_id_14846 neant A77.1 101335 etiological subtype Indian tick typhus Indian tick typhus Indisches Zeckenbissfieber Tifo indiano da zecche Tifus africano, transmitido por garrapatas Typhus à tiques de l'Inde hrdo:pat_id_14847 neant A77.1 101336 etiological subtype Febbre da morso di zecca del Kenia Kenya tick-bite fever Kenya-Fieber Tifus de Kenia, transmitido por picadura garrapatas Kenya tick typhus Kenya tick typhus Kenya-Zeckenbissfieber Tifo keniano da zecche Tifus de Kenia, transmitido por garrapatas Typhus à tiques du Kenya hrdo:pat_id_14848 neant A77.1 101337 etiological subtype Febbre di Marseilles Febre de Marselha Fiebre de Marsella Fièvre marseillaise Marseille-Fieber Marseilles fever hrdo:pat_id_14849 neant A77.1 101338 etiological subtype Febbre mediterranea maculare Febre mediterrânica pontuada Fiebre botonosa mediterranea Fièvre boutonneuse méditerranéenne Mediterranean spotted fever Mittelmeer-Fleckfieber hrdo:pat_id_1485 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 210000 C537669 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Behr+syndrome%5Btw%5D+OR+%28%28Optic+Atrophies%2C+Hereditary%5Bmh%3Anoexp%5D+AND+infantile%29+NOT+%28Leber%5Btw%5D+OR+leber%27s%5Btw%5D%29%29 G98 1239 C0221061 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Behr syndrome Behr-Syndrom Sindrome di Behr Syndrome de Behr Síndrome de Behr Síndrome de Behr hrdo:pat_id_14855 271400 neant Q89.0 101351 morphological anomaly Asplenia Asplenia congenita isolata familiare Asplenia congénita aislada familiar Asplenie, familiäre isolierte, kongenitale Asplénie congénitale familiale isolée Familial isolated congenital asplenia hrdo:pat_id_14859 101356 disease Lisencefalia - neuropatia axonal desmielinizante Lisencefalia - neuropatía por desmielinización axonal Lissencefalia - neuropatia assonale demielinizzante Lissencephaly - demyelinating axonal neuropathy Lissencéphalie - neuropathie axonale démyélinisante Lissenzephalie - demyelinisierende axonale Neuropathie hrdo:pat_id_1486 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 250215 C537350 neant Q78.5 1240 C1855243 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso mental - baixa estatura - epífises dos joelhos em cunha Bellini syndrome Bellini-Chiumello-Rinoldi, síndrome de Bellini-Chiumello-Rinoldi-Syndrom Déficit intelectual - estatura baja - epífisis de las rodillas en forma de cuña Geistige Retardierung mit Kleinwuchs und keilförmiger Epiphysis der Knie Intellectual deficit - short stature - wedge shaped epiphyses of knees Ritardo mentale - bassa statura - epifisi a cuneo delle ginocchia Sindrome di Bellini Syndrome de Bellini Síndrome de Bellini Síndrome de Bellini-Chiumello-Rinoldi Acro-scypho-dysplasie métaphysaire Acroesquifodisplasia metafisaria Acroscifodisplasia metafisaria Acrosquifodisplasia metafisária Akroscyphodysplasie, metaphysäre Metaphyseal acroscyphodysplasia hrdo:pat_id_14860 101433 group of phenomes Doença urogenital, rara Enfermedad urogenital,rara Maladie uro-génitale rare Malattia genitourinaria rara Rare urogenital disease Urogenitale Krankheit, seltene hrdo:pat_id_14862 101435 group of phenomes Genetic ophthalmological disease Maladie ophtalmologique génétique Augenkrankheit, genetisch bedingte Doença ocular, genética Enfermedad ocular, genética Maladie génétique rare de l'œil Malattia oculare genetica Rare genetic eye disease hrdo:pat_id_14865 101685 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-dominant X-chromosomal-rezessiv X-linked dominant X-linked dominant X-linked recessive X-linked recessive disease Déficience intellectuelle non syndromique Déficit intellectuel de cause rare sans anomalie du développement Nonsyndromic rare mental deficiency Deficit cognitivo raro senza dismorfismi Défice intelectual sem anomalia do desenvolvimento, raro Déficit intelectual sin dismorfismo, raro Déficit intellectuel rare sans anomalie du développement Intelligenzminderung ohne Dysmorphien, seltene Rare intellectual deficit without developmental anomaly hrdo:pat_id_14868 neant Q23.8 101932 morphological anomaly Anomalia dell'apparato subvalvolare mitrale Anomalia do aparelho mitral subvalvular Anomalie de l'appareil mitral subvalvulaire Anomaly of the mitral subvalvular apparatus Anomalía del aparato subvalvular mitral Mitralklappe, Anomalie der subvalvulären Strukturen hrdo:pat_id_1487 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 141350 neant Q67.4 1241 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hemifacial hyperplasia - strabismus Hemifaziale Hyperplasie mit Stratumbildung Hiperplasia hemifacial - estratoísmo Hyperplasie hémifaciale - strabisme Iperplasia emifacciale - strabismo Bencze syndrome Bencze-Syndrom Sindrome di Bencze Syndrome de Bencze Síndrome de Bencze Síndrome de Bencze hrdo:pat_id_14870 101934 group of phenomes Doença do ritmo cardíaco, genética Enfermedad del ritmo cardíaco, genética Genetic cardiac rhythm disease Herzrythmusstörung, genetisch bedingte Malattia genetica del ritmo cardiaco Trouble du rythme cardiaque génétique hrdo:pat_id_14872 101936 group of phenomes Doença gastro-esofágica, rara Enfermedad gastroesofágica, rara Gastro-oesophageale Krankheit, seltene Maladie gastro-oesophagienne rare Malattia gastroesofagea rara Rare gastro-esophageal disease hrdo:pat_id_14873 101937 group of phenomes Enfermedad del páncreas, rara Maladie pancréatique rare Malattia pancreatica rara Pancreática rara, doença Pankreaskrankheit, seltene Rare pancreatic disease hrdo:pat_id_14874 101938 group of phenomes Doença vascular hepática, rara Enfermedad hepática vascular, rara Maladie hépatique vasculaire rare Malattia epatica vascolare rara Rare vascular liver disease Vaskuläre Leberkrankheit, seltene hrdo:pat_id_14875 101939 group of phenomes Doença parenquimatosa hepática, rara Enfermedad hepática parenquimatosa, rara Maladie rare du parenchyme hépatique Malattia epatica parenchimatosa rara Parenchymatöse Leberkrankheit, seltene Rare parenchymatous liver disease hrdo:pat_id_14876 10019689 101940 C0851734 group of phenomes Doença metabólica do fígado, rara Enfermedad metabólica hepática Leberkrankheit, metabolische Maladie métabolique hépatique Malattia epatica metabolica Metabolic liver disease hrdo:pat_id_14877 101941 group of phenomes Doença do trato biliar, rara Enfermedad del tracto biliar, rara Gallenwegskrankheit, seltene Maladie rare des voies biliaires Malattia rara del tratto biliare Rare biliary tract disease hrdo:pat_id_14879 101943 group of phenomes Gallengang- und Lebertumor, selten Rare hepatic and biliary tract tumor Tumeur rare du foie et des voies biliaires Tumor hepático, raro Tumor raro hepático y del tracto biliar Tumore epatico raro hrdo:pat_id_14880 101944 group of phenomes Doença pulmonar, rara Enfermedad pulmonar, rara Lungenkrankheit, seltene Maladie pulmonaire rare Malattia polmonare rara Rare pulmonary disease hrdo:pat_id_14881 101945 group of phenomes Rare bronchopulmonary tumor Tumeur bronchopulmonaire rare Tumor broncopulmonar, raro Tumor broncopulmonar, raro Tumor, bronchopulmonaler, seltener Tumore broncopolmonare raro hrdo:pat_id_14885 101949 group of phenomes Augenkrankheit, erworbene, seltene Doença ocular adquirida, rara Enfermedad ocular, adquirida, rara Maladie acquise de l'œil Malattia oculare acquisita rara Rare acquired eye disease hrdo:pat_id_14886 101950 group of phenomes Augentumor, seltener Rare eye tumor Tumeur rare de l'œil Tumor ocular Tumor raro ocular Tumore oculare hrdo:pat_id_14888 101952 group of phenomes Diabete mellito raro Diabetes mellitus, rara Diabetes mellitus, rara Diabetes mellitus, seltener Diabète sucré rare Rare diabetes mellitus hrdo:pat_id_14889 neant E78 101953 group of phenomes Dislipidemia rara Dislipidemia rara Dislipidemia, rara Dyslipidämie, seltene Dyslipidémie rare Rare dyslipidemia hrdo:pat_id_14890 101954 group of phenomes Doença da suprarrenal, rara Enfermedad adrenal, rara Maladie rare des surrénales Malattia surrenale rara Nebennierenkrankheit, seltene Rare adrenal disease hrdo:pat_id_14891 101955 group of phenomes Doença da tiroide, rara Enfermedad de la tiroides, rara Maladie rare de la thyroïde Malattia tiroidea rara Rare thyroid disease Schilddrüsenkrankheit, seltene hrdo:pat_id_14892 neant E31 101956 group of phenomes Poliendocrinopatia Poliendocrinopatia Poliendocrinopatía Polyendocrinopathie Polyendocrinopathy Polyendokrinopathie hrdo:pat_id_14893 neant E23 101957 group of phenomes Deficiencia hipofisaria Deficiência da pituitária Déficit hypophysaire Hypophysenfunktionsstörung Insufficienza ipofisaria Pituitary deficiency hrdo:pat_id_14894 10052381 101958 group of phenomes Insufficienza surrenale primaria Insuffisance surrénale primaire Insuficiencia suprarrenal primaria Insuficiência da suprarrenal, primária Nebenniereninsuffizienz, primäre Primary adrenal insufficiency hrdo:pat_id_14895 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 101959 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 CPAI CPAI Chronic adrenocorticoid insufficiency Chronic primary adrenal insufficiency Insufficienza surrenale primaria cronica Insuffisance surrénale primaire chronique Insuficiencia suprarrenal crónica primaria Insuficiência da suprarrenal, primária, crónica Nebenniereninsuffizienz, chronische primäre hrdo:pat_id_14896 101960 group of phenomes Genetic chronic primary adrenal insufficiency Insufficienza surrenale primaria cronica genetica Insuffisance surrénale primaire chronique génétique Insuficiencia suprarrenal primaria, crónica, genética Insuficiência da suprarrenal, primária, crónica, genética Nebenniereninsuffizienz, chronische primäre, genetisch bedingte hrdo:pat_id_14899 101963 group of phenomes Acquired chronic primary adrenal insufficiency Insufficienza surrenale primaria cronica acquisita Insuffisance surrénale primaire chronique acquise Insuficiencia suprarrenal primaria, crónica, adquirida Insuficiência da suprarrenal, primária, crónica, adquirida Nebenniereninsuffizienz, chronische primäre, erworbene hrdo:pat_id_149 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 277460 C535393 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Friedreich%5Btw%5D+OR+Friedreich%27s%5Btw%5D+OR+cerebellar+Ataxia%5Ball%5D%29+AND+%28vitamin+e+deficiency%5Bmh%5D+OR+vitamin+e+deficiency%5Bti%5D%29 E56.0 G11.1 96 C1848533 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 AVED AVED AVED AVED AVED Ataxia with isolated vitamin E deficiency Ataxie par déficit isolé en vitamine E Ataxie type Friedreich-like Deficit isolato di vitamina E Deficit isolato familiare di vitamina E Deficiência isolada de vitamina E Deficiência isolada familiar de vitamina E Déficit en vitamine E isolé familial Déficit isolé en vitamine E Familial isolated vitamin E deficiency Friedreich-like ataxia Isolated vitamin E deficiency Vitamin E-Mangel, isolierter familärer Vitamina E, deficiência isolada de Vitamina E, deficiência isolada familiar de Atassia Friedreich-simile con deficit selettivo di vitamina E Ataxia Friedreich-like com deficiência seletiva em vitamina E Ataxia with vitamin E deficiency Ataxia, tipo Friedreich, por déficit de vitamina E Ataxie par déficit en vitamine E Ataxie, Friedreich-ähnliche mit Vitamin E-Mangel hrdo:pat_id_1490 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 155050 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Maxillo+nasal%5Btw%5D+dysplasia+OR+Binder+syndrome%5Btw%5D+OR+%28Binder%5Btw%5D+AND+Maxillofacial+Abnormalities%29 Q75.8 1248 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Binder syndrome Displasia maxillonasale, tipo Binder Dysostose maxillo-nasale Dysplasie, maxillonasale, Typ Binder Maxillo-nasal dysostosis Syndrome de Binder Binder-Syndrom Dysplasie maxillo-nasale Maxillo-nasal dysplasia Sindrome di Binder Síndrome de Binder Síndrome de Binder hrdo:pat_id_14908 neant D81 101972 group of phenomes Combined T and B cell immunodeficiency Immunodeficienza combinata da cellule T e B Immunodéficience combinée T et B Imunodeficiência combinada de células B e T Inmunodeficiencia, combinada de células B y T T- und B-Zell-Immundefekt, kombinierter hrdo:pat_id_1491 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q87.8 1250 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Fistel, tracheo-ösophageale mit Symphalangie Fistola tracheoesofagea - sinfalangismo Fistule trachéo-oesophagienne - symphalangisme Fístula traqueoesofágica - sinfalangismo Tracheo-esophageal fistula - symphalangism Blaichman syndrome Blaichman-Syndrom Sindrome di Blaichman Syndrome de Blaichman Síndrome de Blaichman Síndrome de Blaichman hrdo:pat_id_14913 neant D80 101977 group of phenomes Immundefekt mit vorwiegender Beeinträchtigung der Antikörper-Produktion Immunodeficiency predominantly affecting antibody production Immunodeficienza che interessa prevalentemente la produzione di anticorpi Immunodéficience par déficit de production d'anticorps Imunodeficiência afetando predominantemente a produção de anticorpos Inmunodeficiencia, que afecta principalmente a la producción de anticuerpos hrdo:pat_id_14914 101978 group of phenomes Agamaglobulinemia Agammaglobulinemia Agammaglobulinämie Disease with severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cells Enfermedad con reducción grave de los isotipos de inmonoglobulinas séricas y con ausencia o disminución profunda de células B Maladie avec diminution importante d'immunoglobulines sériques et diminution ou absence de cellules B hrdo:pat_id_14916 101980 group of phenomes Antikörpermangelsyndrom mit Immunglobulin-Isotypen oder Leichtketten-Mangel und normaler B-Zellzahl Defeito da recombinação de troca de classes e de hipermutação somática que afeta as células B Disease with isotype or light chain deficiencies with normal numbers of B cells Immunodeficienza da deficit della catena leggera o della sottoclasse dell'immunoglobulina con un numero normale di cellule B Immunodéficience par déficit en chaîne légère ou en sous-classe d'immunoglobuline avec un nombre normal de cellules B Inmunodeficiencia, selectiva, con la participación de la subclase IgG, así como la clase o subclase IgE e IgA hrdo:pat_id_14918 101982 group of phenomes Disease with severe reduction in serum IgA and IgG with normal/elevated IgM and normal numbers of B cells Enfermedad con reducción grave de IgA y IgG séricas con un nivel normal/elevado de IgM y con conteo normal de células B Immundefekt durch Störung der Immunglobulin-Klassenwechselrekombination und somatischer Hypermutation von B-Zellen Imunodeficiência seletiva envolvendo as sub-classes de IgG e as classes ou sub-classes de IgE ou IgA Maladie avec diminution sévère d'IgA et d'IgG sérique, un taux normal ou augmenté d'IgM et un nombre normal de cellules B Malattia associata a una grave riduzione di IgA e IgG nel siero con IgM normali/elevate e numero normale di cellule B hrdo:pat_id_1492 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant 1251 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Richieri Costa-Guion Almeida-Rodini syndrome Richieri-Costa-Guion-Almeida Rodini-Syndrom Sindrome di Richieri Costa Guion Almeida Rodini Syndrome de Richieri Costa-Guion Almeida-Rodini Síndrome de Richieri Costa-Guion Almeida-Rodini Blepharo-facio-skeletal syndrome Blepharo-fazio-skelettales Syndrom Sindrome blefaro-facio-scheletrica Syndrome blépharo-facio-squelettique Síndrome blefaro-facio-esquelético Síndrome blefaro-facio-esquelético hrdo:pat_id_14921 101985 group of phenomes Anomalie congénitale de la fonction phagocytaire et/ou du nombre de phagocytes Congenital defects of phagocyte number, function or both Defectos congénitos en el número, función o ambos aspectos de los fagocitos Deficiência da função dos fagócitos Difetti congeniti del numero e/o della funzione dei fagociti Phagozytendefekt, kongenitaler (Funktion und/oder Anzahl) hrdo:pat_id_14923 neant D70 101987 group of phenomes Constitutional neutropenia Neutropenia Neutropenia constitucional Neutropenia costituzionale Neutropenie, konstitutionelle Neutropénie constitutionnelle hrdo:pat_id_14924 101988 group of phenomes Anomalia inata ou dos componentes recetores ou de sinalização do sistema imune Anomalie des angeborenen Immunsystems Defecto en la inmunidad innata Difetto dell'immunità innata Déficit immunitaire par défaut de l'immunité innée Primary immunodeficiency due to a defect in innate immunity hrdo:pat_id_14928 neant D84.1 101992 group of phenomes Anomalia da via alternativa do complemento Immundefekt mit Störung des Komplement-Aktivierungsweg Immunodeficiency due to a complement cascade protein anomaly Immunodeficienza da anomalie delle proteine della cascata del complemento Immunodéficience due à une anomalie de la cascade du complément Inmunodeficiencia debida a una anomalía en la cascada del complemento hrdo:pat_id_1493 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 110050 neant Q87.0 1252 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Pashayan syndrome Pashayan-Syndrom Sindrome di Pashayan Syndrome de Pashayan Síndrome de Pashayan Blepharo-naso-faziales Fehlbildungs-Syndrom Blepharonasofacial malformation syndrome Sindrome da malformazione blefaro-naso-facciale Syndrome blépharo-naso-facial Síndrome de malformación blefaro-naso-facial Síndrome de malformação blefaro-naso-faial hrdo:pat_id_14931 10034533 neant E85.0 101995 C0015974 group of phenomes Syndrome de fièvre périodique Periodic fever syndrome Periodisches Fiebersyndrom Sindrome della febbre periodica Syndrome de fièvre récurrente Síndrome de febre periódica Síndrome de fiebre periódica hrdo:pat_id_14933 10064859 101997 group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Immundefekt, primärer Immunodeficienza primaria Immunodéficience primaire Imunodeficiência primária Inmunodeficiencia primaria Primary immunodeficiency hrdo:pat_id_14934 neant G40 101998 group of phenomes Epilepsia rara Epilepsia rara Epilepsie rare Epilepsie, seltene Epilessia rara Rare epilepsy hrdo:pat_id_14936 102000 group of phenomes Doença medular Maladie de la moëlle épinière Malattia midollare Medular, enfermedad Medullar disease Medulläre Krankheit hrdo:pat_id_14938 102002 group of phenomes Atassia cerebellare rara Ataxia rara Ataxia, cerebelosa, rara Ataxie rare Ataxie, seltene Rare ataxia hrdo:pat_id_14939 102003 group of phenomes Anomalie rare du mouvement Bewegungsstörung, seltene Doença do movimento, rara Enfermedad motora rara Malattia motoria rara Rare movement disorder hrdo:pat_id_1494 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 109900 1253 28599006 C0339085 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Blepharochalasis - double lip Blépharochalasis - lèvre double Ascher syndrome Ascher-Syndrom Blefarocalasi - labbro doppio Blefarochalasia labio doble Syndrome d'Ascher Síndrome de Ascher hrdo:pat_id_14941 102005 group of phenomes Brain inflammatory disease Doença cerebral inflamatória Enfermedad inflamatoria del cerebro Hirnkrankheit, inflammatorische Maladie inflammatoire du cerveau Malattia infiammatoria cerebrale hrdo:pat_id_14942 102006 group of phenomes Fehlbildung, neurovaskuläre Malformación neurovascular Malformation neurovasculaire Malformazione neurovascolare Malformação neurovascular Neurovascular malformation hrdo:pat_id_14945 neant Q04.3 102009 253147000 C0431375 C1843916 group of phenomes Lisencefalia de tipo 1 Lissencefalia, tipo 1 Lissencephaly type 1 Lissencéphalie type 1 Classic lissencephaly Lisencefalia clásica Lisencefalia clássica Lissencefalia classica Lissencéphalie classique Lissenzephalie, klassische hrdo:pat_id_14946 neant Q04.3 102010 group of phenomes Altra sindrome con lissencefalia come segno cardinale Autre syndrome avec une lissencéphalie comme manifestation majeure Lisencefalia sindrómica Other syndrome with lissencephaly as a major feature Otros síndromes con lisencefalia como característica principal Sonstige Syndrome mit Lissenzephalie als Hauptmerkmal hrdo:pat_id_14947 neant Q04.3 102011 group of phenomes Lisencefalia tipo 3 Lisencefalia, tipo 3 Lissencefalia, tipo 3 Lissencephaly type 3 Lissencéphalie de type 3 Lissenzephalie Typ 3 hrdo:pat_id_14948 neant G11.4 102012 group of phenomes HSP no complicada HSP pura HSP pure Paraplejía espástica familiar no complicada Paraplejía espástica familiar pura Paraplejía espástica hereditaria no complicada Paraplégie spastique familiale pure Pure HSP Pure SPG Pure familial spastic paraplegia SPG no complicada SPG pura SPG pure Uncomplicated HSP Uncomplicated SPG Uncomplicated familial spastic paraplegia Uncomplicated hereditary spastic paraplegia Paraparésia espástica familiar, forma pura Paraplegia spastica ereditaria, forma pura Paraplejía espástica hereditaria pura Paraplégie spastique héréditaire pure Pure hereditary spastic paraplegia Spastische Paraplegie, reine Form hrdo:pat_id_14949 neant G11.4 102013 group of phenomes Complex HSP Complex SPG Complex familial spastic paraplegia Complicated HSP Complicated SPG Complicated familial spastic paraplegia Complicated hereditary spastic paraplegia HSP complexe Paraplégie spastique familiale complexe SPG complexe Complex hereditary spastic paraplegia Paraparésia espástica familiar, forma complexa Paraplegia spastica ereditaria, forma complessa Paraplejía espástica, forma compleja, hereditaria Paraplégie spastique héréditaire complexe Spatische Paraplegie, komplexe Form hrdo:pat_id_14950 neant G71.0 102014 group of phenomes Autosomal dominant limb-girdle muscular dystrophy Distrofia muscolare dei cingoli, autosomica dominante Distrofia muscular das cinturas, autossómica dominante Distrofia muscular pélvica, autosómica dominante Dystrophie musculaire des ceintures autosomique dominante Gliedergürtelmuskeldystrophie, autosomale-dominante hrdo:pat_id_14951 neant G71.0 102015 group of phenomes Autosomal recessive limb-girdle muscular dystrophy Distrofia muscolare dei cingoli, autosomica recessiva Distrofia muscular das cinturas, autossómica recessiva Distrofia muscular pélvica, autosómica recesiva Dystrophie musculaire des ceintures autosomique récessive Gliedergürtelmuskeldystrophie, autosomale-rezessive hrdo:pat_id_14956 neant Q93 102020 group of phenomes Autosomal deletion Autosomale Deletion Deleción autosómica Delezione autosomica Délétions des autosomes Autosomal monosomy Monosomia autosomica Monosomie, autosomale Monosomies des autosomes Monosomía autosómica Monossomia hrdo:pat_id_14957 102021 group of phenomes Rickettsiae disease Rickettsia Rickettsial disease Rickettsien Rickettsiose Rickttesiae Riquetsiose hrdo:pat_id_14958 neant A77 102022 group of phenomes Febre macular por riquetsiose Fiebre en manchas tipo riquetsias Fleckfieber-Rickettsiosen Gruppo febbre maculare da Rickettsiae Rickettsiose de type fièvre boutonneuse Spot fever rickettsiae disease hrdo:pat_id_14959 neant A75 102023 240613006 C0343758 group of phenomes Rickettsiose de type Typhus Riquetsias do grupo do tifo Tifo dal gruppo delle Rickettsiae Tifus, grupo rickttesiae Typhus group rickettsiae Typhus-Rickettsiosen hrdo:pat_id_1496 1256 malformation syndrome Jorgenson-Lenz syndrome Sindrome di Jorgenson-Lenz Syndrome de Jorgenson-Lenz Síndrome de Jorgenson-Lenz Blefarofimose - sinostose radio-cubital Blefarofimosi - sinostosi radioulnare Blefarofimosis - sinostosis radio-cubital Blepharophimose - radioulnare Synostose Blepharophimosis - radioulnar synostosis Blépharophimosis - synostose radio-cubitale hrdo:pat_id_14960 102024 group of phenomes Human herpesvirus 8 infection Humanes Herpes-Virus-8-Infektionen Infección por herpesvirus humano 8 Infection par l'herpès virus humain 8 Infezione da virus herpes umano 8 Maladies associées à HHV-8 Disturbi associati a VHH-8 Enfermedades relacionadas con VHH-8 HHV-8 related disorders HHV-8-assoziierte Krankheiten Infeção por VHH-8 Maladies associées à VHH-8 hrdo:pat_id_14961 102025 group of phenomes Encelopatia delle cellule neuronali Envelopatia de células nucleadas Kernhüllenkrankheit Maladie de l'enveloppe nucléaire Nuclear cell envelopathy Trastorno de envoltorio nuclear hrdo:pat_id_14964 102069 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Amiloidosi epatica colestatica Amiloidosis hepática colestática Amyloidose, cholestatische hepatische Amylose hépatique cholestatique Cholestatic hepatic amyloidosis Amiloidosi epatica con colestasi intraepatica Amiloidosis hepática con colestasis intrahepática Amilóidose hepática com colestase intra-hepática Amylose hépatique avec cholestase intra-hépatique Hepatic amyloidosis with intrahepatic cholestasis Hepatische Amyloidose mit intrahepatischer Cholestase hrdo:pat_id_14965 neant E85.0 102237 group of phenomes Fièvre périodique inexpliquée Fièvre récurrente inexpliquée Periodisches Fieber-Syndrom ohne identifizierte kausale Gene Sindrome da febbre periodica senza geni identificati Síndrome de la fiebre recurrente sin genes identificados Síndrome febre periódica sem genes identificados Unexplained periodic fever syndrome hrdo:pat_id_14971 102283 group of phenomes MCA/MR MCA/MR Multiple congenital anomalies-intellectual deficit with or without dysmorphism Anomalias múltiplas congénitas/síndrome dismórfico-atraso mental Anomalie congenite multiple - deficit cognitivo Anomalies congénitales multiples - déficit intellectuel Anomalías congénitas múltiples, déficit intelectual Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit Multiple kongenitale Anomalien - Intelligenzminderung hrdo:pat_id_14972 102284 group of phenomes MCA/MR variable MCA/variable MR Multiple congenital anomalies - variable intellectual deficit with or without dysmorphism Anomalias congénitas múltiplas/síndrome dismórfico-atraso mental variável Anomalie congenite multiple - deficit cognitivo variabile Anomalies congénitales multiples - déficit intellectuel variable Anomalías congénitas múltiples, déficit intelectual variable Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit Multiple kongenitale Anomalien - variable Intelligenzminderung hrdo:pat_id_14973 102285 group of phenomes Anomalies congénitales variables sans reatrd mental (avec ou sans dysmorphie) MCA MCA Multiple congenital anomalies without intellectual deficit (with or without dysmorphism) Anomalias congénitas múltiplas/síndrome dismórfico sem atraso mental Anomalie congenite multiple senza deficit cognitivo Anomalies congénitales multiples sans déficit intellectuel Anomalías congénitas múltiples sin déficit intelectual Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit Multiple kongenitale Anomalien ohne Intelligenzminderung hrdo:pat_id_14974 102369 group of phenomes Deficit cognitivo sindromico Deficit mentale sindromico Déficience intellectuelle syndromique Déficit intelectual sindrómico Déficit intellectuel de cause rare avec anomalie du développement Geistige Retardierung, syndromale Intelligenzminderung, syndromale Syndromic intellectual deficit Syndromic mental deficiency Atraso mental com anomalia do desenvolvimento, raro Deficit cognitivo raro associato a anomalie dello sviluppo Déficit intelectual raro con anomalías del desarrollo Déficit intellectuel rare avec anomalie du développement Intelligenzminderung mit Entwicklungsanomalien, seltene Form Rare intellectual deficit with developmental anomaly hrdo:pat_id_14975 102373 group of phenomes Doença glomerular, primária Enfermedad glomerular, primaria Glomerulopathie, primäre Malattia glomerulare primaria Néphropathie glomérulaire primitive Primary glomerular disease hrdo:pat_id_14978 102379 disease Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent Akute myeloische Leukämie und myelodysplastische Syndrome zurückzuführen auf alkylierende Agenzien Leucemia mieloide acuta e sindromi mielodisplastiche associate a un agente alchilante Leucemia mieloide aguda y síndromes mielodisplásticos relacionados con agentes alquilantes Leucemia mielóide aguda e síndromes mielodisplásticos relacionados com agentes alquilantes Leucémie aiguë myéloïde et syndromes myélodysplasiques liés aux agents alkylants hrdo:pat_id_14979 neant C92.0 102381 disease Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor Akute myeloische Leukämie und myelodysplastische Syndrome zurückzuführen auf Topoisomerase Typ II-Inhibitor Leucemia mieloide acuta e sindromi mielodisplastiche associate all'inibitore della topoisomerasi tipo II Leucemia mieloide aguda y síndromes mielodisplásticos relacionados con la topoisomerasa tipo II inhibidora Leucemia mielóide aguda e síndromes mielodisplásticos relacionados inibidores das topoisomerases tipo II Leucémie aiguë myéloïde et syndromes myélodysplasiques liés aux inhibiteurs de la topoisomérase II hrdo:pat_id_1498 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 110150 C536236 neant Q15.8 1259 C1862259 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Blefaroptose - miopia - ectopia do cristalino Blefaroptosi - miopia - ectopia del cristallino Blefaroptosis - miopía - ectopia lentis Blepharoptose - Myopie - Linsenektopie Blepharoptosis - myopia - ectopia lentis Blépharoptosis - myopie - ectopie du cristallin hrdo:pat_id_14981 102724 disease 'Leucemia mielóide aguda com translocação t(8;21)(q22;q22)' Acute myeloid leukemia with t(8;21)(q22;q22) translocation Akute myeloische Leukämie mit Translokation t(8;21)(q22;q22) Leucemia mieloide acuta associata alla traslocazione t(8;21)(q22;q22) Leucemia mieloide aguda con traslocación t(8;21)(q22;q22) Leucémie myéloblastique aiguë type associée à une translocation t(8;21)(q22;q22) hrdo:pat_id_14983 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant E74.3 103907 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficiencia de maltasa-glucoamilasa Deficit di maltasi-glucoamilasi Déficit de maltasa-glucoamilasa Déficit en maltase-glucoamylase Maltase-glucoamylase deficiency Chronic diarrhea due to glucoamylase deficiency Diarrea cronica da deficit di glucoamilasi Diarrea crónica, debido a un déficit de glucoamilasa Diarreia crónica por deficiência de glucoamilase Diarrhoe, chronische, durch Glucoamylase-Mangel Diarrhée chronique associée à un déficit en glucoamylase hrdo:pat_id_14984 270420 neant P78.3 103908 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficiencia de intercambio Na-H Deficit dell'attività di scambio Na-H Déficit de intercambio Na-H Déficit de l'échangeur Na-H Na-H exchange deficiency Congenital sodium diarrhea Diarrea congenita con malassorbimento del sodio Diarrea sódica congénita Diarreia por sódio, congénita Diarrhée avec malabsorption du sodium congénitale Natrium-Diarrhoe, kongenitale hrdo:pat_id_14985 612119 neant E74.3 103909 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Intolerancia a la trehalosa aislada Intolerancia aislada a la trehalosa Intolleranza isolata al trealosio Intolérance isolée au tréhalose Isolated trehalose intolerance Diarrea con vomito da deficit di trealasi Diarrea-vómitos debido a un déficit de trehalasa Diarreia e vómito por deficiência de trehalase Diarrhea-vomiting due to trehalase deficiency Diarrhoe-Erbrechen durch Trehalase-Mangel Diarrhée-vomissement associés à un déficit en tréhalase hrdo:pat_id_14986 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant P78.3 103910 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Congenital enterocyte heparan sulfate deficiency Deficit congenito di eparansolfato negli enterociti Deficiência de sulfato de heparano do enterócito, congénita Déficit congénito de heparan-sulfato en los enterocitos Déficit en héparane sulfate de l'entérocyte congénital Enterozyten-Heparansulfat-Mangel, kongenitaler hrdo:pat_id_14987 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant P78.3 103912 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Colite epitelio-esfoliativa - sordità Colite epitélio-exfoliativa - surdez Colite épithélio-exfoliative - surdité Colitis epitelio-exfoliativa - sordera Epithelio-exfoliative Kolitis - Schwerhörigkeit Epithelio-exfoliative colitis - deafness hrdo:pat_id_14988 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D007161 neant C88.3 103915 109982002 109985000 123313007 27461004 C0021071 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown EIPID IPSID IPSID IPSID Linfoma mediterráneo Lymphome méditerranéen Mediterranean lymphoma Doença imunoproliferativa do intestino delgado Enfermedad inmunoproliferativa del intestino delgado Immunoproliferative small intestinal disease Immunproliferative Dünndarmkrankheit Maladie immunoproliférative de l'intestin grêle Malattia immunoproliferativa dell'intestino tenue hrdo:pat_id_14989 neant K52.8 103916 disease Autoimmune enteropathy type 2 Enteropathie, autoimmune, Typ 2 Enteropatia autoimmune, tipo 2 Enteropatia, autoimune, tipo 2 Enteropatía autoinmune tipo 2 Entéropathie auto-immune de type 2 hrdo:pat_id_1499 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 225755 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28encephalopath*%5Bti%5D+AND+calcification*%5Bti%5D+AND+%28basal+ganglia%5Bti%5D+OR+intracerebr*%5Bti%5D%29+NOT+lymphocytos*%29 Q04.8 1261 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Encefalopatia - calcificazione intracerebrale - degenerazione retinica Encefalopatía - calcificación intracerebral - degeneración retiniana Encephalopathy - intracerebral calcification - retinal degeneration Encéphalopathie - calcification intracérébrale - dégénérescence rétinienne Enzephalopathie mit intrazerebraler Kalzifikation und Retinadegeneration Bonneman-Meinecke-Reich-Syndrom Bonnemann-Meinecke-Reich syndrome Sindrome di Bonneman-Meinecke-Reich Syndrome de Bonnemann-Meinecke-Reich Síndrome de Bonneman-Meinecke-Reich Síndrome de Bonneman-Meinecke-Reich hrdo:pat_id_14990 neant K52.8 103917 disease Autoimmune enteropathy type 3 Enteropathie, autoimmune, Typ 3 Enteropatia autoimmune, tipo 3 Enteropatia, autoimune, tipo 3 Enteropatía autoinmune tipo 3 Entéropathie auto-immune de type 3 hrdo:pat_id_14991 608189 neant K86.1 103918 disease Pancreatite cronica calcificante tropicale Pancreatitis crónica tropical calcificante Pancréatite tropicale calcifiante chronique Pankreatitis, chronische kalzifizierende tropische TCP TCP TCP TCP TCP Tropical calcific chronic pancreatitis Pancreatite tropical Pancreatite tropicale Pancreatitis tropical Pancréatite tropicale Pankreatitis, tropische Tropical pancreatitis hrdo:pat_id_14992 10069002 neant K86.1 103919 C2609129 disease AIP AIP AIP AIP Autoimmune pancreatitis Pancreatite autoimmune Pancreatite autoimune Pancreatitis autoinmune Pancréatite auto-immune Pankreatitis, autoimmune hrdo:pat_id_14993 neant K52.3 103920 group of phenomes Colite indeterminata Colite indéterminée Colite, indeterminada Colitis indeterminada Kolitis, unbestimmte Undetermined colitis hrdo:pat_id_14994 104003 group of phenomes Anomalie congénitale du transport intestinal Congenital intestinal transport defect Defecto congénito en el transporte intestinal Deficiência no transporte intestinal, congénita Difetto congenito del trasporto intestinale Intestinaler Transporter-Defekt, kongenitaler hrdo:pat_id_14995 104004 group of phenomes Doença intestinal por anomalia na absorção de vitaminas Enfermedad intestinal por anomalía en la absorción de vitaminas Intestinal disease due to vitamin absorption anomaly Intestinale Krankheit durch Störung der Vitamin-Absorption Maladie intestinale due à une anomalie de l'absorption de vitamines Malattia intestinale da anomalia dell'assorbimento vitaminico hrdo:pat_id_14996 104005 group of phenomes Doença intestinal por má absorção de gordura Enfermedad intestinal por una mala absorción de grasas Intestinal disease due to fat malabsorption Intestinale Krankheit durch Fettmalabsorption Maladie intestinale due à une malabsorption des graisses Malattia intestinale da anomalia dell'assorbimento dei grassi hrdo:pat_id_14997 104006 group of phenomes Congenital intestinal disease due to an enzymatic defect Doença intestinal por deficiência enzimática, congénita Enfermedad intestinal congénita debido a un defecto enzimático Intestinale Krankheit durch enzymatischen Defekt, kongenitale Maladie intestinale congénitale due à une anomalie enzymatique Malattia intestinale da difetto enzimatico congenito hrdo:pat_id_14998 104007 group of phenomes Congenital enteropathy involving intestinal mucosa development Enteropathie mit Entwicklungsdefekt der intestinalen Mukosa, kongenitale Enteropatia congenita che interessa lo sviluppo delle mucose intestinali Enteropatia congénita envolvendo o desenvolvimento da mucosa intestinal Enteropatía congénita asociada al desarrollo de la mucosa intestinal Entéropathie congénitale liée au développement de la muqueuse intestinale hrdo:pat_id_14999 D012778 10049416 104008 26629001 C0036992 group of phenomes Kurzdarm-Syndrom Short bowel syndrome Sindrome dell'intestino corto Syndrome de l'intestin court Síndrome del intestino corto Síndrome do intestino curto hrdo:pat_id_15 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 232400 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22glycogen+storage+disease+type+iii%22%5BMeSH+Terms%5D+OR+Glycogen+Storage+Disease+Type+III%5BText+Word%5D E74.0 366 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Amilo-1,6-glucosidase, deficiência de Amylo-1,6-Glukosidase-Mangel Amylo-1,6-glucosidase deficiency Cori disease Cori-Forbes disease Cori-Krankheit Deficit di GDE Deficit di amilo-1,6-glucosidasi Deficiência de amilo-1,6-glucosidase Deficiência na desramificação do glicogénio Destrinosi limite Dextrinose limite Dextrinosis límite Doença no armazenamento de glicogénio, tipo 3 Déficit GDE Déficit de amilo-1,6- glucosidasa Déficit en amylo-1,6-glucosidase Enfermedad de Cori Enfermedad de Cori-Forbes Enfermedad de Forbe Enfermedad de almacenamiento de glucógeno tipo 3 Forbe disease Forbe-Krankheit GDE deficiency GSD Typ 3 GSD da deficit dell'enzima deramificante il glicogeno GSD due to glycogen debranching enzyme deficiency GSD par déficit en enzyme débranchante GSD por déficit de enzima desramificante del glucógeno GSD tipo 3 GSD type 3 GSD type 3 GSD, tipo 3 GSDIII GSDIII GSDIII GSDIII Glicogenosi da deficit dell'enzima deramificante il glicogeno Glicogenosi, tipo 3 Glicogénio, deficiência na desramificação do Glicogénio, doença no armazenamento de, tipo 3 Glucogenosis por déficit de enzima desramificante del glucógeno Glucogenosis tipo 3 Glycogen storage disease type 3 Glycogenosis due to glycogen debranching enzyme deficiency Glycogénose type 3 Glykogen-Debranching-Enzym-Mangel Glykogen-Speicherkrankheit Typ 3 Limit dextrinosis Maladie de Cori Maladie de Cori-Forbes Maladie de Forbe Malattia da deposito di glicogeno, tipo 3 Malattia di Cori Malattia di Cori-Forbes Malattia di Forbe Type 3 glycogenosis Enfermedad de almacenamiento de glucógeno por déficit de enzima desramificante del glucógeno Glicogenose tipo 3 Glycogen storage disease due to glycogen debranching enzyme deficiency Glycogénose par déficit en enzyme débranchante Glykogenose Typ 3 Malattia da deposito di glicogeno da deficit dell'enzima deramificante il glicogeno hrdo:pat_id_150 Variabel Variabile Variable Variable Variable Variable Variável 125370 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=myoclonic+epilepsies%2C+progressive%5Bmh%3Anoexp%5D+OR+Dentatorubral+pallidoluysian+atrophy%5Btw%5D+OR+progressive+myoclonic+epilepsies%5Btw%5D G11 101 19091006 C0751781 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 ADRPL DRPLA DRPLA DRPLA DRPLA DRPLA DRPLA Dentatorubropallidoluysian atrophy Maladie de Naito-Oyanagi Malattia di Naito-Oyanagi Naito-Oyanagi disease Naito-Oyanagi, síndrome de Naito-Oyanagi-Krankheit Síndrome de Naito-Oyanagi Atrofia dentato-rubro-palido-luisiana Atrofia dentato-rubro-pallido-luisiana Atrofia dentato-rubro-pálido-luisiana Atrophie dentato-rubro-pallido-luysienne Atrophie, dentato-rubro-pallido-luysische Dentatorubral-pallidoluysian atrophy hrdo:pat_id_1500 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 112300 neant Q82.4 1262 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Book syndrome Book-Syndrom Sindrome di Böök Syndrome de Book Síndrome de Book Síndrome de Book hrdo:pat_id_15000 104009 group of phenomes Anomalie congénitale de la motilité intestinale Congenital intestinal motility disorder Desorden congénito de la motilidad intestinal Disturbo congenito della motilità intestinale Doença da mobilidade intestinal, congénita Intestinale Motilitätsstörungen, kongenitale hrdo:pat_id_15001 D044483 10057018 104010 254589009 C0345891 C1257915 group of phenomes Intestinal polyposis Polipose intestinal Poliposi intestinale Poliposis intestinal Polypose intestinale Polyposis, intestinale hrdo:pat_id_15002 104011 group of phenomes Intestinal tumor Tumeur intestinale Tumor intestinal Tumor intestinal Tumor, intestinaler Tumore intestinale hrdo:pat_id_15003 104012 group of phenomes Darmerkrankung, chronisch-entzündliche Doença inflamatória do intestino Enfermedad inflamatoria intestinal Maladie inflammatoire rare de l'intestin Malattia infiammatoria dell'intestino Rare inflammatory bowel disease hrdo:pat_id_15004 104013 group of phenomes Doença metabólica com envolvimento intestinal Enfermedad metabólica con afectación intestinal Maladie métabolique avec atteinte intestinale Malattia metabolica con coinvolgimento intestinale Metabolic disease with intestinal involvement Stoffwechselkrankheit mit Darmbeteiligung hrdo:pat_id_15005 neant D01.4 104075 disease Adenocarcinoma de intestino delgado Adenocarcinoma dell'intestino tenue Adenocarcinoma do intestino curto Adenokarzinom des Dünndarms Adénocarcinome de l'intestin grêle Small bowel adenocarcinoma hrdo:pat_id_15006 neant C17 104076 disease Leiomiosarcoma de intestino delgado Leiomiosarcoma dell'intestino tenue Leiomiossarcoma do intestino curto Leiomyosarkom des Dünndarms Léïomyosarcome de l'instestin grêle Small bowel leiomyosarcoma hrdo:pat_id_15007 neant K59.8 104077 etiological subtype Intestinale Pseudoobstruktion, myopathische Myopathic intestinal pseudoobstruction Pseudo-obstruction intestinale myopathique Pseudo-obstrucção intestinal, miopática Pseudo-ostruzione intestinale miopatica Pseudoobstrucción intestinal miopática hrdo:pat_id_15008 neant K59.8 104078 etiological subtype Intestinale Pseudoobstruktion, unklassifizierte Pseudo-obstruction intestinale non classifiée Pseudo-obstrucção intestinal, não classificada Pseudo-ostruzione intestinale non classificata Pseudoobstrucción intestinal no clasificada Unclassified intestinal pseudoobstruction hrdo:pat_id_1501 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 112310 C536573 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Boomerang+dysplasia Q87.1 1263 254054000 C0432201 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Boomerang dysplasia Boomerang-Dysplasie Displasia boomerang Displasia en boomerang Displasia, tipo ''boomerang'' Dysplasie en boomerang hrdo:pat_id_15011 108959 group of phenomes Oesophageale Malformation, nicht syndromale Malformaciones esofágicas no sindrómicas Malformation non syndromique de l'œsophage Malformazioni non sindromiche dell'esofago Malformação esofágica, não-sindrómica Nonsyndromic esophageal malformation Ösophagusfehlbildung, nicht syndromale hrdo:pat_id_15012 108961 group of phenomes Malformaciones esofágicas sindrómicas Malformation syndromique de l'œsophage Malformazioni sindromiche dell'esofago Malformação esofágica sindrómica Syndromic esophageal malformation Ösophagusfehlbildung, syndromale hrdo:pat_id_15013 108963 group of phenomes Gastroduodenale Fehlbildung, nicht-syndromale Malformación gastroduodenal no sindrómica Malformation gastroduodénale non syndromique Malformazione gastroduodenale non sindromica Malformação gastroduodenal, não-sindrómica Nonsyndromic gastroduodenal malformation hrdo:pat_id_15014 108965 group of phenomes Gastroduodenale Fehlbildung, syndromale Malformación gastroduodenal sindrómica Malformation gastroduodénale syndromique Malformazione gastroduodenale sindromica Malformação gastroduodenal sindrómica Syndromic gastroduodenal malformation hrdo:pat_id_15015 108967 group of phenomes Intestinale Fehlbildungen, nicht-syndromale Malformación intestinal no sindrómica Malformation intestinale non syndromique Malformazione intestinale non sindromica Malformação intestinal, não-sindrómica Nonsyndromic intestinal malformation hrdo:pat_id_15016 108969 group of phenomes Intestinale Fehlbildungen, syndromale Malformación intestinal sindrómica Malformation intestinale syndromique Malformazione intestinale sindromica Malformação intestinal sindrómica Syndromic intestinal malformation hrdo:pat_id_15017 108971 group of phenomes Malformaciones viscerales no sindrómicas Malformation viscérale non syndromique Malformazioni viscerali non sindromiche Malformação visceral, não-sindrómica Nonsyndromic visceral malformation Vizerale Fehlbildungen, nicht-syndromale hrdo:pat_id_15018 108973 group of phenomes Malformaciones viscerales sindrómicas Malformation viscérale syndromique Malformazioni viscerali sindromiche Malformação visceral sindrómica Syndromic visceral malformation Vizerale Fehlbildungen, syndromale hrdo:pat_id_1502 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 301900 C536575 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Borjeson+Forssman+Lehmann Q87.8 127 21634003 C0265339 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown BFLS BFLS Déficit intellectuel - épilepsie - anomalies endocrines Geistige Retardierung - Epilepsie - endokrine Anomalien Intelectual deficiency - epilepsy - endocrine disorders Ritardo mentale - epilessia - anomalie endocrine Borjeson-Forssman-Lehmann syndrome Borjeson-Forssman-Lehmann-Syndrom Sindrome di Borjeson-Forssman-Lehmann Syndrome de Borjeson-Forssman-Lehmann Síndrome de Borjeson-Forssman-Lehmann Síndrome de Borjeson-Forssman-Lehmann hrdo:pat_id_15020 108977 group of phenomes Malformación no sindrómica de la pared diafragmática y abdominal Malformation non-syndromique du diaphragme ou de la paroi abdominale Malformazione non sindromica del diaframma e della parete addominale Malformação do diafragma ou da parede abdominal, não-sindrómica Nonsyndromic diaphragmatic or abdominal wall malformation Zwerchfell- und Bauchwandfehlbildung, nicht-syndromale hrdo:pat_id_15021 108979 group of phenomes Malformación sindrómica de la pared diafragmática y abdominal Malformation syndromique du diaphragme ou de la paroi abdominale Malformazione sindromica del diaframma e della parete addominale Malformação do diafragma ou da parede abdominal, sindrómica Syndromic diaphragmatic or abdominal wall malformation Zwerchfell- und Bauchwandfehlbildung, syndromale hrdo:pat_id_15024 108985 group of phenomes Anomalia do desenvolvimento do olho, não-sindrómica Anomalie non syndromique du développement de l'œil Defecto no sindrómico en el desarrollo del ojo Difetto non sindromico dello sviluppo oculare Entwicklungsstörung der Augen, nicht-syndromale Nonsyndromic developmental defect of the eye hrdo:pat_id_15025 108987 group of phenomes Anomalia do desenvolvimento do olho, sindrómica Anomalie syndromique du développement de l'œil Defecto sindrómico en el desarrollo del ojo Difetto sindromico dello sviluppo oculare Entwicklungsstörung der Augen, syndromale Syndromic developmental defect of the eye hrdo:pat_id_15026 108989 group of phenomes Malformación no sindrómica del sistema nervioso central Malformation non syndromique du système nerveux central Malformazione non sindromica del sistema nervoso centrale Malformação do sistema nervoso central, não-sindrómica Nonsyndromic central nervous system malformation ZNS-Fehlbildung, nicht-syndromale hrdo:pat_id_15027 108991 group of phenomes Malformação do sistema nervoso central, sindrómica Sindrome con malformazione del sistema nervoso centrale come segno cardinale Syndrom mit ZNS-Fehlbildung als Hauptmerkmal Syndrome avec malformation du système nerveux central comme manifestation majeure Syndrome with a central nervous system malformation as major feature Síndrome con malformación del sistema nervioso central como característica principal hrdo:pat_id_15028 108993 group of phenomes Atemwegs- oder Mediastinum-Fehlbildung, nicht-syndromale Malformación respiratoria o mediastinal no sindrómica Malformation non syndromique de l'appareil respiratoire ou du médiastin Malformazione respiratoria o del mediastino non sindromica Malformação respiratória ou do mediastino, não-sindrómica Nonsyndromic respiratory or mediastinal malformation hrdo:pat_id_15029 108995 group of phenomes Atemwegs- oder Mediastinum-Fehlbildung, syndromale Malformación respiratoria o mediastinal sindrómica Malformation syndromique de l'appareil respiratoire ou du médiastin Malformazione respiratoria o del mediastino sindromica Malformação respiratória ou do mediastino, sindrómica Syndromic respiratory or mediastinal malformation hrdo:pat_id_1503 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 191482 Q82.4 1264 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Bork syndrome Bork, síndrome de Bork-Syndrom Sindrome di Bork Syndrome de Bork Síndrome de Bork Síndrome trico-retino-dento-digital Sindrome trico-retinico-dento-digitale Syndrome tricho-rétino-dento-digital Síndrome de Bork-Stender-Schmidt Síndrome trico-retino-dento-digital Tricho-retino-dento-digital syndrome Tricho-retino-dento-digitales Syndrom hrdo:pat_id_15030 108997 group of phenomes Anemia rara Anemia rara Anemia rara Anämie, seltene Anémie rare Rare anemia hrdo:pat_id_15031 108999 group of phenomes Intossicazione rara Intoxicación rara Intoxication rare Intoxicação rara Intoxikation, seltene Rare intoxication hrdo:pat_id_15035 D001176 neant Q68.8 109007 111246005 C0003886 group of phenomes Arthrogrypose Arthrogryposis syndrome Arthrogryposis-Syndrom Sindrome da artrogriposi Síndrome de artrogripose Síndrome de artrogriposis hrdo:pat_id_15036 neant Q87.2 109009 group of phenomes Malformazione sindromica degli arti Malformação dos membros, sindrómica Syndrome avec anomalie des membres comme manifestation majeure Syndrome mit Extremitätenfehlbildung als Hauptmerkmal Syndrome with limb malformations as a major feature Síndrome con malformaciones de las extremidades como principal característica hrdo:pat_id_15037 109011 group of phenomes Anomalie non syndromique des membres Extremitätenfehlbildung, nicht-syndromale Malformación no sindrómica de las extremidades Malformazione non sindromica degli arti Malformação dos membros, não-sindrómica Nonsyndromic limb malformation hrdo:pat_id_15039 117569 group of phenomes Enfermedad intestinal rara Intestinal, doença rara Intestinale Krankheit, seltene Maladie intestinale rare Malattia intestinale rara Rare intestinal disease hrdo:pat_id_1504 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 211170 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Dermatocardioskeletal+OR+%28dermato+cardio+skeletal%29+OR+%28borrone+Crovato+Camera%29 Q87.8 1266 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Síndrome cutáneo-cardio-osteoarticular, tipo Borrone Dermato-cardio-skeletal syndrome, Borrone type Dermato-kardio-skelettales Syndrom Typ Borrone Sindrome dermo-cardio-scheletrica, tipo Borrone Syndrome dermato-cardio-squelettique type Borrone Síndrome dermato-cardio-esquelético tipo Boronne Síndrome dermo-cardio-esquelético, tipo Borrone hrdo:pat_id_15041 117573 group of phenomes Anorektale Fehlbildung, syndromale Malformación anorrectal sindrómica Malformation anorectale syndromique Malformazione anorettale sindromica Malformação ano-retal sindrómica Syndromic anorectal malformation hrdo:pat_id_15043 117594 group of phenomes Doença rara não classificada noutros locais Enfermedad rara no clasificada en otro lugar Maladie rare non classée ailleurs Malattia rara non meglio classificata Seltene Krankheiten, andernorts unklassifiziert Unclassified rare disease hrdo:pat_id_1506 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 211180 C537081 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Bowen+Conradi+OR+bowen+hutterite Q02 1270 C1859405 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Bowen syndrome, Hutterite type Bowen tipo Hutterite, síndrome Bowen-Syndrom, Hutteriten-Typ Sindrome di Bowen, tipo Hutterita Syndrome de Bowen type Huttérite Síndrome Bowen tipo Hutterite Síndrome de Bowen tipo Huterita Bowen-Conradi syndrome Bowen-Conradi-Syndrom Sindrome di Bowen-Conradi Syndrome de Bowen-Conradi Síndrome de Bowen-Conradi Síndrome de Bowen-Conradi hrdo:pat_id_1507 211200 1271 disease Bowen syndrome Bowen-Syndrom Sindrome di Bowen Syndrome de Bowen Síndrome de Bowen Síndrome de Bowen hrdo:pat_id_151 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 180849 610543 613684 D012415 10039281 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=rubinstein+taybi+syndrome%5Bti%5D+OR+rubinstein+taybi+syndrome%5Bmh%5D Q87.2 783 45582004 C0035934 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 16p13.3 deletion syndrome Deletion-16p13.3-Syndrom Sindrome da delezione 16p13.3 Syndrome de délétion 16p13.3 Rubinstein-Taybi syndrome Rubinstein-Taybi-Syndrom Sindrome di Rubinstein-Taybi Syndrome de Rubinstein-Taybi Síndrome de Rubinstein-Taybi Síndrome de Rubinstein-Taybi hrdo:pat_id_1510 186550 neant Q73.8 1275 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Brachydactylie - dysplasie articulaire Brachydactyly - joint dysplasia Braquidactilia - displasia articular Liebenberg syndrome Syndrome de Liebenberg Síndrome de Liebenberg Brachidattilia displasia dei gomiti e dei polsi Brachydactylie - dysplasie des coudes et des poignets Brachydactyly - elbow wrist dysplasia Brachydaktylie - Ellenbogen-/Handgelenk-Dysplasie Braquidactilia - displasia de codos y muñecas Braquidactilia - displasia do cotovelo e punho hrdo:pat_id_1511 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 112410 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Brachydactyly%5Bti%5D+OR+Hand+Deformities%2C+Congenital%29+%28hypertension%5Bti%5D+OR+hypertension+%5Bmh%5D%29+OR+Bilginturan%5Btw%5D I10 1276 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Brachidattilia - ipertensione arteriosa Brachydactylie - hypertension artérielle Brachydactyly - arterial hypertension Brachydaktylie - Bluthochdruck Braquidactilia - hipertensión arterial Braquidactilia - hipertensão hrdo:pat_id_1512 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 112450 neant Q73.8 1278 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Brachidattilia preassiale alluce varo Brachydactylie préaxiale - hallux varus Brachydactyly - preaxial hallux varus Brachydaktylie, präaxiale - Hallux varus Braquidactilia preaxial hallux varus Braquidactilia pré-axial - hálux varo hrdo:pat_id_1525 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 113477 C536242 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28hand+deformities%2C+congenital+OR+Brachymorphism%29+%28Nails%2C+Malformed+OR+onychodysplasia%29+%28dysphalangism+OR+Finger+Phalanges/ab%29 Q87.1 1292 C1862082 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 BOD syndrome BOD, síndrome BOD-Syndrom Senior syndrome Senior, síndrome Senior-Syndrom Sindrome BOD Sindrome di Senior Syndrome BOD Syndrome de Senior Síndrome BOD Síndrome de Bod Síndrome de Senior Síndrome sénior Brachimorfismo - onicodisplasia - disfalangismo Brachymorphie - Onychodysplasie - Dysphalangie Brachymorphism - onychodysplasia - dysphalangism Brachymorphisme - onychodysplasie - dysphalangisme Braquimorfismo - onicodisplasia - disfalangia Síndrome de braquimorfismo - oncodisplasia - disfalangismo hrdo:pat_id_1526 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter C537098 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Brachyolmia+OR+%28short+trunk%5Btw%5D+dwarfism+AND+%28spondyloepiphyseal+dysplasia%5Bti%5D+OR+osteochondrodysplasias%5Bmh%5D%29%29 Q76.3 1293 254088006 C0432228 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Brachiolmia Brachyolmia Brachyolmie Brachyolmie Braquiolmia Braquiolmia hrdo:pat_id_1528 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 113480 1295 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Brachitelefalangia - dismorfismi - sindrome di Kallmann Brachytelephalangie - Dysmorphien - Kallmann-Syndrom Brachytelephalangy - dysmorphism - Kallmann syndrome Brachytéléphalangie - dysmorphie - syndrome de Kallman Braquitelefalangia - dismorfismo - síndrome de Kallmann Braquitelefalangia - face característica - síndrome de Kallman hrdo:pat_id_1529 245550 C538396 Q87.8 1296 C1855551 malformation syndrome Branchial dysplasia - intellectual deficit - inguinal hernia Dysplasie branchiale - déficit intellectuel - hernie Lambert-Syndrom Sindrome di Lambert Bronchiale Dysplasie - geistige Retardierung - Inguinalhernie Displasia branchiale - ritardo mentale - ernia Displasia branquial - atraso mental - hérnia inguinal Displasia branquial - déficit intelectual - hernia inguinal Lambert syndrome Syndrome de Lambert hrdo:pat_id_1530 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 113620 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Branchio+oculo+facial%5Btw%5D Q18.8 1297 C0376524 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 BOFS BOFS BOFS BOFS BOFS Lee-Root-Fenske-Syndrom Síndrome de Lee-Root-Fenske Branchio-oculo-facial syndrome Branchio-okulo-faziales Syndrom Sindrome branchio-oculo-facciale Syndrome branchio-oculo-facial Síndrome branquio-oculo-facial Síndrome branquio-óculo-facial hrdo:pat_id_1533 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 211380 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=skeleto+genital Q87.8 1299 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Brachio-skeleto-genitales Syndrom Branchio-skeleto-genital syndrome Sindrome branchio-scheletro-genitale Syndrome branchio-squeletto-génital Síndrome branquio-esqueleto-genital Síndrome braquio-esqueleto-genital hrdo:pat_id_1534 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 119500 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Pterygium+popliteal+syndrome Q87.2 1300 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Facio-genito-popliteal syndrome Popliteal web syndrome Sindrome della briglia poplitea Syndrome de la bride poplitée Syndrome facio-génito-poplité Síndrome teia poplítea Teia poplítea, síndrome Autosomal dominant popliteal pterygium syndrome Popliteales Pterygium-Syndrom, autosomal-dominantes Sindrome dello pterigio popliteo, autosomica dominante Syndrome des pterygiums poplités autosomique dominant Síndrome de pterigium poplíteo autosómico dominante Síndrome pterígio poplíteo autossómico dominante hrdo:pat_id_1535 neant 1301 disease Bronchiectasia oligospermia Bronchiectasie - oligospermie Bronchiectasis - oligospermia Bronchiektasie mit Oligospermie Bronquiectasias - oligospermia Bronquiectasias oligospermia hrdo:pat_id_1536 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 164280 614326 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Oculo+digito+esophageal%29+OR+oculodigitoesophagoduodenal+OR+Feingold+syndrome%5Btw%5D Q87.8 1305 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anomalias dos dedos - fissuras palpebrais pequenas - atresia do esófago ou duodeno Anomalias dos dedos - fissuras palpebrais pequenas - atrésia do esófago ou duodeno Anomalie digitali con rime palpebrali corte e atresia dell'esofago o del duodeno Anomalies digitales - fentes palpébrales courtes - atrésie oesophagienne ou duodénale Anomalías digitales con fisuras palpebrales cortas y atresia esófagica o duodenal Brunner-Winter syndrome Brunner-Winter, síndrome de Brunner-Winter-Syndrom Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum Feingold, síndrome de Fingeranomalien - kurze Lidspalten - Ösophagus- oder Duodenalatresie MMT MMT MMT MMT MODED MODED syndrome MODED-Syndrom Microcefalia - atraso mental - fístula traqueo-esofágica (MMT) Microcefalia - deficit cognitivo - fistola tracheoesofagea Microcefalia - déficit intectual - fístula traqueoesofágica Microcefalia - oculo-digito-esofago-duodenal, síndrome (MODED) Microcefalia - sindrome oculo-digito-esofageo-duodenale Microcefalia - síndrome oculo-digito-esofágico-duodenal Microcephaly - intellectual deficit - tracheoesophageal fistula Microcephaly - oculo-digito-esophageal-duodenal syndrome Microcéphalie - déficit intellectuel - fistule trachéo-oesophagienne Microcéphalie - syndrome oculo-digito-oesophago-duodénal Mikrozephalie - Intelligenzminderung - Tracheo-Ösophageal-Fistel Mikrozephalie - Okulo-Digito-Oesophago-duodenal-Syndrom ODED syndrome ODED-Syndrom Oculo-digito-esophageal-duodenal syndrome Okulo-Digito-Oesophago-Duodenal-Syndrom Sindrome MODED Sindrome ODED Sindrome di Brunner-Winter Sindrome oculo-digito-esofageo-duodenale Syndrome ODED Syndrome de Brunner-Winter Syndrome oculo-digito-oesophago-duodénal Síndrome MODED Síndrome ODED Síndrome de Brunner-Winter Síndrome de Brunner-Winter Síndrome de Feingold Síndrome microcefalia - oculo-digito-esofago-duodenal (MODED) Síndrome oculo-digito-esofágico-duodenal Feingold syndrome Feingold-Syndrom Sindrome di Feingold Syndrome de Feingold Síndrome de Feingold Síndrome oculo-digito-esofago-duodenal hrdo:pat_id_1537 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 246560 neant Q92.3 1307 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 10q24 microduplication syndrome Buttiens-Fryns syndrome Microduplication 10q24 Sindrome da microduplicazione 10q24 Sindrome di Buttiens-Fryns Syndrome de Buttiens-Fryns Síndrome de Buttiens-Fryns Síndrome microduplicación 10q24 Anomalie des membres - micrognathisme Deficiencias distales de las extremidades - síndrome de micrognatía Distal limb deficiencies - micrognathia syndrome Distale Gliedmaßenreduktionen - Mikrogenie-Syndrom Sindrome difetti degli arti-micrognazia Síndrome de Buttiens-Fryns hrdo:pat_id_1539 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 215480 1313 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Calcificaciones de plexos coroideos, forma infantil Calcifications du plexus choroïde, forme infantile Calcificazioni del plesso coroideo, forma infantile Infantile choroido cerebral calcification syndrome Plexus choroideus-Kalzifizierung - geistige Retardierung, infantile Form Síndrome de calcificações coroido-cerebrais forma infantil hrdo:pat_id_1540 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 1314 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Calcificaciones talámicas simétricas Calcifications thalamiques symétriques Calcificazioni talamiche simmetriche Calcificações talâmicas simétricas Symmetrical thalamic calcifications Thalamus-Kalzifikationen, symmetrische hrdo:pat_id_1541 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 212540 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Camfak+OR+cataract+microcephaly+failure+to+thrive+OR+cataract+microcephaly+kyphosis Q87.8 1317 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CAMAK syndrome Cataract - microcephaly - arthrogryposis - kyphosis Cataract - microcephaly - failure to thrive - kyphoscoliosis Cataracte - microcéphalie - arthrogrypose - cyphose Cataracte - microcéphalie - retard stauro-pondéral - cyphoscoliose Catarata - microcefalia - atraso estaturoponderal - cifoscoliose Cataratta - microcefalia - artrogriposi - cifosi Cataratta - microcefalia - difetto di crescita - cifoscoliosi Katarakt - Mikrozephalie - Gedeihstörungen - Kyphoskoliose Sindrome CAMAK Syndrome CAMAK CAMFAK syndrome CAMFAK-Syndrom Sindrome CAMFAK Syndrome CAMFAK Síndrome CAMFAK Síndrome CAMFAK hrdo:pat_id_1542 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 211890 C537966 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Campomeli*+Cumming Q87.8 1318 C1859371 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Campomelia tipo Cumming Campomelia tipo Cumming Campomelia, Cumming type Campomelia, tipo Cumming Campomélie type Cumming Kampomelie Typ Cumming hrdo:pat_id_1543 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 114150 C537967 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Camptobrachydactyl*+OR+%28camptodactyl*+AND+brachydactyl*+AND+%28contracture+OR+arthrogryposis%29%29 Q74.8 1319 C1861963 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Camptobrachidattilia Camptobrachydactylie Camptobrachydactyly Camptobraquidactilia Camptobraquidactilia Kamptobrachydaktylie hrdo:pat_id_1544 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 211930 C537287 C537974 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Fibrous+Dysplasia+of+Bone+AND+fingers/ab+AND+%28Hand+Deformities%2C+Congenital+OR+Camptodactyl*%29 1321 70410008 C1859357 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Camptodactylie de Goodman Camptodattilia di Goodman Goodman camptodactyly Kamptodaktylie Typ Goodman Camptodactilia - hiperplasia del tejido fibroso - displasia esquelética Camptodactilia - hiperplasia do tecido fibroso - displasia esquelética Camptodactylie - dysplasie osseuse Camptodactyly - fibrous tissue hyperplasia - skeletal dysplasia Camptodattilia - displasia ossea Kamptodaktylie - fibröse Gewebshyperplasie - Skelettdysplasie hrdo:pat_id_1546 602612 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Camptodactyly++contractures+(eye+abnormalities+OR+ptosis+OR+Rozin%5Bti%5D) 1323 malformation syndrome Camptodattilia sindromica di Rozin Rozin-Hertz-Goodman syndrome Rozin-Hertz-Goodman, síndrome de Rozin-camptodactyly syndrome Sindrome di Rozin-Hertz-Goodman Syndrome de Rozin-Hertz-Goodman Syndrome de Rozin-camptodactylie Síndrome de Rozin - camptodactilia Síndrome de Rozin-Hertz-Goodman Camptodactilia - artrogripose - defeitos esqueléticos faciais Camptodactilia - contracturas articulares - anomalías faciales esqueléticas Camptodactylie - raideur articulaire - anomalies osseuses de la face Camptodactyly - joint contractures - facial skeletal defects Camptodattilia - contratture articolari - anomalie facciali e scheletriche Kamptodaktylie - Gelenkkontrakturen - Faziale Skelettdefekte hrdo:pat_id_1548 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance C537972 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Camptodactyly+%28taurinuri*+OR+taurine/ur%29 Q68.1 1325 C2931681 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Camptodactilia - taurinúria Camptodactilia taurinúria Camptodactylie - taurinurie Camptodactyly - taurinuria Camptodattilia - taurinuria Kamptodaktylie - Taurinurie hrdo:pat_id_1549 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 211920 C537971 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Camptodactyly+Guadalajara+ii Q87.1 1326 C2931680 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Camptodactilia tipo Guadalajara tipo 2 Camptodactylie de Guadalajara type 2 Camptodactyly syndrome, Guadalajara type 2 Camptodattilia tipo Guadalajara, tipo 2 Kamptodaktylie Guadalajara Typ 2 Síndrome de camptodactilia Guadalajara tipo 2 hrdo:pat_id_155 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 268080 312700 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%22retinoschisis%22%5BMeSH+Terms%5D+OR+Retinoschisis%5BTW%5D%29+AND+X-linked%5Btw%5D Q14.1 792 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Retinoschisi giovanile legata all'X Retinoschisis, juvenile, X-chromosomale Retinosquisis juvenil Retinosquisis juvenil ligada a X Rétinoschisis juvénile lié à l'X X-linked juvenile retinoschisis XLRS XLRS XLRS XLRS XLRS Retinoschisi legata all'X Retinoschisis, X-chromosomale Retinosquisis ligada a X Retinosquisis ligada ao X Rétinoschisis lié à l'X X-linked retinoschisis hrdo:pat_id_1550 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 211910 C537970 neant Q87.1 1327 C2931679 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Camptodactilia tipo Guadalajara tipo 1 Camptodactylie de Guadalajara type 1 Camptodactyly syndrome, Guadalajara type 1 Camptodattilia tipo Guadalajara, tipo 1 Kamptodaktylie Guadalajara Typ 1 Síndrome de camptodactilia Guadalajara tipo 1 hrdo:pat_id_1551 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 131300 606631 D003966 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Camurati+Engelmann%5Btw%5D+OR+Engelmann%27s+disease%5Btw%5D+OR+Diaphyseal+Dysplasia%2C+Progressive Q78.3 1328 C0011989 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia diafisaria progressiva Displasia diafisária progressiva Dysplasie diaphysaire progressive Dysplasie, diaphysäre progressive Progressive diaphyseal dysplasia Camurati-Engelmann disease Camurati-Engelmann-Syndrom Doença de Camurati-Engelmann Maladie de Camurati-Engelmann Sindrome di Camurati-Engelmann Síndrome de Camurati-Engelmann hrdo:pat_id_1553 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 261550 C536665 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Persisten*%5Bti%5D+OR+remnant%5Bti%5D%29+%28mullerian+duct*%5Btw%5D+OR+mullerian+ducts%5Bmh%5D%29 Q55.8 2856 C1849930 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Derivados mullerianos persistentes Derivados mullerianos persistentes Derivados mullerianosr persistentes Derivati Mülleriani persistenti Dérivés mullériens persistants Homme à utérus Müller-Gang, persistierender Müllersche Derivative, persistierende PMDS PMDS PMDS PMDS PMDS Persistent Mullerian derivatives Müller-Gang-Persistenzsyndrom Persistent Mullerian duct syndrome Sindrome da persistenza dei dotti Mülleriani Syndrome de persistance des canaux de Müller Síndrome de canal de Muller persistente Síndrome del conducto mülleriano persistente hrdo:pat_id_1554 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 313850 D058502 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Cantrell+pentalogy+OR+thoracoabdominal+syndrome%5Bti%5D Q89.7 1335 281587000 C0559483 Esporádica Esporádico Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X Sporadic Sporadic Sporadica Sporadique Sporadisch X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Pentalogie Typ Cantrell Sindrome toracoaddominale Syndrome thoraco-abdominal Síndrome de Toraco-abdominal Thoraco-abdominal syndrome Thorako-abdominales Syndrom Toraco-abdominal, síndrome Cantrell pentalogy Cantrell-Pentalogie Pentalogia de Cantrell Pentalogia di Cantrell Pentalogie de Cantrell Pentalogía de Cantrell hrdo:pat_id_1555 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 144190 L81.8 Q82.8 1336 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hiperqueratose - hiperpigmantaçãoSíndrome Hyperkeratose-Hyperpigmentierungs-Syndrom Hyperkeratosis-hyperpigmentation syndrome Hyperkératose-hyperpigmentation Ipercheratosi - iperpigmentazione Síndrome de Cantu Sánchez Corona Fragoso hrdo:pat_id_1557 217085 C535849 neant Q87.8 1338 C2931046 malformation syndrome Ostravik-Lindemann-Solberg syndrome Ostravik-Lindemann-Solberg, síndrome de Ostravik-Lindemann-Solberg-Syndrom Sindrome di Ostravik-Lindemann-Solberg Syndrome d'Orstavik-Lindemann-Solberg Síndrome de Ostravik-Lindemann-Solberg Síndrome de Ostravik-Lindemann-Solberg Anomalie cardiaque - hamartomes de la langue - polysyndactylie Cardiopatia - amartomi della lingua - polisindattilia Cardiopatia - hamartoma da língua - polissindactilia Cardiopatía - hamartomas de la lengua - polisindactilia Heart defect - tongue hamartoma - polysyndactyly Herzfehler - Zungenhamartom - Polysyndaktylie hrdo:pat_id_1558 122850 neant Q87.0 1339 malformation syndrome Grosse syndrome Grosse, síndrome de Grosse-Syndrom Kraniofaziales Syndrom Sindrome di Grosse Syndrome de Grosse Síndrome de Grosse Síndrome de Grosse Cranioacrofacial syndrome Kranio-akro-faziales Syndrom Sindrome cardio-acro-facciale Syndrome cranio-acrofacial Síndrome cardio-acro-facial Síndrome cranio-acro-facial hrdo:pat_id_1559 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 115150 C535579 Q87.8 1340 403770008 C1275081 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CFC syndrome CFC, síndrome CFC-Syndrom Sindrome CFC Syndrome CFC Síndrome CFC Síndrome CFC Cardiofaciocutaneous syndrome Kardio-fazio-kutanes Syndrom Sindrome cardio-facio-cutanea Syndrome cardio-facio-cutané Síndrome cardio - facio - cutáneo Síndrome cardio-facio-cutâneo hrdo:pat_id_1561 140450 neant Q87.2 1342 malformation syndrome Atriodigital dysplasia type 3 Atriodigitale Dysplasie Typ 3 Cardiomelic syndrome type 3 Displasia atriodigital tipo 3 Displasia atriodigitale, tipo 3 Dysplasie atrio-digitale type 3 Heart-hand syndrome, Spanish type Heart-limb syndrome type 3 Herz-Hand-Syndrom, spanische Form Kardiomeles Syndrom Typ 3 Sindrome cardiomelica, tipo 3 Sindrome cuore-arti, tipo 3 Sindrome cuore-mano, tipo spagnolo Syndrome cardiomélique type 3 Syndrome cardiomélique type espagnol Syndrome coeur-membres type 3 Síndrome cardiomélico tipo 3 Síndrome de corazón - miembro tipo 3 Síndrome de corazón-mano tipo español Heart-hand syndrome type 3 Herz-Hand-Syndrom Typ 3 Sindrome cuore-mano, tipo 3 Syndrome coeur-main type 3 Síndrome coração - mão tipo espanhol Síndrome de corazón-mano tipo 3 hrdo:pat_id_1563 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Krasnow+N+Qazi+QH+OR+%28cardiomyopath*%5Bti%5D+And+cataract*%5Bti%5D+AND+hip%5Bti%5D%29 1345 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Krasnow-Qazi syndrome Krasnow-Qazi-Syndrom Sindrome di Krasnow-Qazi Syndrome de Krasnow-Qazi Síndrome de Krasnow-Qazi Cardiomiopatia - cataratta - anomalie spondilopelviche Cardiomyopathie - cataracte - anomalies spondylo-pelviennes Cardiomyopathy - cataract - hip spine disease Doença miocardiopatia - catarata - anca - coluna Kardiomyopathie - Katarakt - Anomalien von Wirbelsäule und Becken Miocardiopatía - cataratas - anomalías espondilopélvicas hrdo:pat_id_1565 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Tabatznik+%28heart+hand%29+OR+%28Temtamy%5B1au%5D+McKusick%29 Q87.2 1350 malformation syndrome Atriodigital dysplasia type 2 Dysplasie atrio-digitale type 2 Sindrome di Tabatznik Syndrome coeur-main type 2 Syndrome coeur-membres type 2 Syndrome de Tabatznik Síndrome de Tabatznik Síndrome de Tabatznik Tabatznik syndrome Tabatznik, síndrome de Tabatznik-Syndrom Cardiopatía - anomalía de miembros tipo 2 Heart-hand syndrome type 2 Herz-Hand-Syndrom Typ 2 Sindrome cuore-mani, tipo 2 Syndrome cardiomélique type 2 Síndrome coração - mão tipo 2 hrdo:pat_id_1566 600123 neant Q87.8 1352 malformation syndrome Houlston-Ironton-Temple syndrome Houlston-Ironton-Temple, síndrome de Houlston-Ironton-Temple-Syndrom Sindrome di Houlston-Ironton-Temple Syndrome de Houlston-Ironton-Temple Síndrome de Houlston-Ironton-Temple Atrioventricular defect - blepharophimosis -radial defects Atrioventrikulärer Defekt - Blepharophimose - Radialdefekt Cardiopathie - blépharophimosis - anomalie du radius Cardiopatia - blefarofimosi - anomalie radiali Cardiopatía - blefarofimosis - anomalía radial Defeito aurículo-ventricular - blefarofimose - defeitos radiais hrdo:pat_id_1567 270460 neant Q87.8 1355 malformation syndrome Sindrome di Sonoda Sonoda syndrome Sonoda, síndrome de Sonoda-Syndrom Syndrome de Sonoda Síndrome de Sonoda Síndrome de Sonoda Cardiopathie - face ronde - petite taille Cardiopatia - faccia rotonda - bassa statura Cardiopatia - face redonda - atraso congénito do desenvolvimento Cardiopatía - cara redonda - retraso congénito del desarrollo Heart defect - round face - congenital developmental delay Herzfehler - rundes Gesicht - kongenitale Entwicklungsverzögerung hrdo:pat_id_1569 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 212200 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Carnosinemia+OR+Carnosinase+deficiency%5Btw%5D+NOT+Homocarnosin* E70.8 1361 410052008 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Carnosinase deficiency Carnosinase, deficiência de Carnosinase-Mangel Deficit di carnosinasi Deficiência de carnosinase Déficit de carnosinasa Déficit en carnosinase Carnosinemia Carnosinemia Carnosinemia Carnosinemia Carnosinämie Carnosinémie hrdo:pat_id_157 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 304400 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28mixed+deafness%5Bti%5D+OR+hearing+loss%2C+sensorineural%5BMh%5D%29+%28pou3f4%5Btw%5D+OR+dfn3%5Btw%5D+OR+gusher*%5Btw%5D%29 H90.8 383 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hipoacusia mixta neurosensorial y conductiva, ligada al X Hörverlust, konduktiver und sensorineuraler, X-chromosomaler Perdita dell'udito mista neurosensoriale e conduttiva legata all'X Schallleitungsschwerhörigkeit und neurosensorischer Hörverlust, X-chromosomal Schwerhörigkeit, X-chromosomale, Typ DFN3 Schwerhörigkeit, gemischte, mit Perilymphfistel, X-chromosomale Sordera mixta con Gusher perilinfático, ligada al X Sordera mixta neurosensorial y conductiva, ligada al X Sordità mista con Gusher perilinfatico legata all'X Sordità mista neurosensoriale e condutttiva legata all'X Stapes-Gusher-Syndrom Surdez ligada ao X, DFN3 Surdez mista com Gusher perilinfático, ligado ao X Surdité mixte avec fistule périlymphatique liée à l'X Surdité mixte de transmission et de perception liée à l'X Surdité mixte de transmission et neurosensorielle liée à l'X X-linked deafness mixed with perilymph gusher X-linked deafness mixed with perilymphatic gusher X-linked deafness, DFN3 X-linked mixed conductive and neurosensory deafness X-linked mixed conductive and neurosensory hearing loss X-linked mixed conductive and sensorineural deafness X-linked mixed conductive and sensorineural hearing loss Gusher syndrome Gusher-Syndrom Sindrome di Gusher Syndrome de Gusher Síndrome de Gusher Síndrome de Gusher hrdo:pat_id_1573 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 212360 C535336 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=cataract+alopecia+sclerodactyly Q82.8 Q84.0 1366 C1859316 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Alopecia congenita e ipercheratosi palmoplantare autosomica recessiva Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia Cataract - alopecia - sclerodactyly Cataracte - alopécie - sclérodactylie Cataratas - alopecia - esclerodactilia Cataratta - alopecia - sclerodattilia Cheratoderma palmoplantare e alopecia congenita, tipo Wallis Hiperqueratosis palmoplantar autosómica recesiva y alopecia congénita Hyperkératose palmoplantaire et alopécie congénitale autosomique recessive KPP-AC type Wallis Katarakt - Alopezie - Sklerodaktylie Kératodermie palmoplantaire et alopécie congénitale type Wallis PPK-CA Typ Wallis PPK-CA type Wallis PPK-CA, Wallis type PPK-CA, tipo Wallis PPK-CA, tipo Wallis Palmoplantar keratoderma and congenital alopecia, Wallis type Palmoplantarkeratose - kongenitale Alopezie, Typ Wallis Queratodermia palmoplantar y alopecia congénita, tipo Wallis Alopecia congenita e cheratoderma palmoplantare autosomica recessivo Autosomal recessive palmoplantar keratoderma and congenital alopecia Catarata - alopecia - esclerodactilia Kératodermie palmoplantaire et alopécie congénitale autosomique recessive Palmoplantarkeratose - kongenitale Alopezie, autosomal-rezessiv Queratodermia palmoplantar autosómica recesiva y alopecia congénita hrdo:pat_id_1575 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 212710 C538283 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=congenital+CATARACT+ATAXIA+sensorineural+DEAFNESS+mental+RETARDATION 1368 C0796123 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cataract - ataxia - deafness Cataracte - ataxie - surdité Catarata - ataxia - surdez Cataratas ataxia sordera Cataratta - atassia - sordità Katarakt - Ataxie - Taubheit hrdo:pat_id_1579 115645 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=cataract+frenula+growth+retardation Q87.8 1373 malformation syndrome Sindrome di Wellesley-Carman-French Syndrome de Wellesley-Carman-French Síndrome de Wellesley-Carmen-French Wellesley-Carman-French syndrome Wellesley-Carman-French-Syndrom Wellesley-Carmen-French, síndrome de Cataract - aberrant oral frenula - growth delay Cataracte - freins buccaux anormaux - retard de croissance Catarata - freio oral aberrante - atraso do crescimento Cataratas - frenillo bucal - retraso de crecimiento Cataratta - frenuli orali - ritardo della crescita Katarakt - aberrante orale Frenula - Wachstumsverzögerung hrdo:pat_id_158 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 248200 600110 603786 10062766 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Stargardt%5Btw%5D+AND+%28%22disease%22%5BMeSH+Terms%5D+OR+disease%5BText+Word%5D+OR+%22syndrome%22%5BMeSH+Terms%5D+OR+syndrome%5BText+Word%5D%29 H35.5 827 70099003 C0271093 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Distrofia macular en flecos Distrofia macular moteada Distrofia maculare con macchie Dystrophie maculaire avec taches Dystrophie maculaire pure Dégénérescence maculaire juvénile Fundo flavimaculatus Fundus flavimaculatus Fundus flavimaculatus Fundus flavimaculatus Fundus flavimaculatus Fundus flavimaculatus Macular dystrophy with flecks Stargardt Makuladystrophie Doença de Stargardt Enfermedad de Stargardt Maladie de Stargardt Malattia di Stargardt Stargardt disease Stargardt-Krankheit hrdo:pat_id_1580 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 600886 C538137 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Hyperferritinemia+AND+cataract%5Bmh%5D H26.0 163 C1833213 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Bonneau-Beaumont syndrome Bonneau-Beaumont, síndrome de Bonneau-Beaumont-Syndrom HHCS HHCS Hereditary hyperferritinemia-cataract syndrome Hyperferritinämie, hereditäre mit kongenitaler Katarakt Sindrome di Bonneau-Beaumont Syndrome de Bonneau-Beaumont Síndrome de Bonneau-Beaumont Cataratta - iperferritinemia Hereditary hyperferritinemia with congenital cataracts Hiperferritinemia hereditaria con cataratas congénitas Hiperferritinemia hereditária com cataratas congénitas Hyperferritinämie - Katarakt Syndrome d'hyperferritinémie-cataracte héréditaire hrdo:pat_id_1582 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 211770 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=CAHMR+syndrome Q87.8 1375 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CAHMR syndrome CAHMR, síndrome Cahmr-Syndrom Sindrome di Cahmr Syndrome de CAHMR Síndrome CAHMR Cataract - hypertrichosis - intellectual deficit Cataracte - hypertrichose - déficit intellectuel Catarata - hipertricose - atraso mental Cataratas - hipertricosis - déficit intelectual Cataratta - ipertricosi - ritardo mentale Katarakt - Hypotrichiose - Intelligenzminderung hrdo:pat_id_1583 212400 C538281 1376 C1859315 disease Cataracte - ichtyose Catarata - ictiose congénita Cataratas congénitas - ictiosis Cataratta congenita - ittiosi Congenital cataract - ichthyosis Katarakt, kongenitale - Ichthyose hrdo:pat_id_1584 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 116200 601547 604219 C538287 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=cataract*%5Bti%5D+AND+microcornea%5Bti%5D Q13.8 1377 C1861829 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cataract-microcornea syndrome Cataracte - microcornée Katarakt-Mikrokornea-Syndrom Sindrome cataratta-microcornea Síndrome catarata - microcórnea Síndrome cataratas - microcórnea hrdo:pat_id_1587 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 218900 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=cataract*%5Bti%5D+AND+nephropathy+AND+encephalopathy Q87.8 1380 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Crome syndrome Crome, síndrome de Crome-Syndrom Sindrome di Crome Syndrome de Crome Síndrome de Crome Cataract - nephropathy - encephalopathy Cataracte - néphropathie - encéphalopathie Catarata - nefropatia - encefalopatia Cataratas nefropatía encefalopatía Cataratta - nefropatia - encefalopatia Katarakt - Nephropathie - Enzephalopathie hrdo:pat_id_1588 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=cataract+Karandikar Q87.8 1381 malformation syndrome Karandikar-Maria-Kamble syndrome Karandikar-Maria-Kamble, síndrome de Karandikar-Marie-Kamble-Syndrom Sindrome di Karandikar-Marie-Kamble Syndrome de Karandikar-Maria-Kamble Síndrome de Karandikar-Maria-Kamble Cataract - intellectual deficit - anal atresia - urinary defects Cataracte - déficit intellectuel - atrésie anale - uropathie Catarata - atraso mental - atresia anal - anomalias urinárias Cataratas - déficit intelectual - atresia anal - uropatía Cataratta - ritardo mentale - atresia anale - uropatia Katarakt - geistige Retardierung - Analatresie - Uropathie hrdo:pat_id_1593 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 212720 Q87.8 1387 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Marsolf-Syndrom Martsolf syndrome Martsolf, síndrome de Sindrome di Marsolf Syndrome de Martsolf Síndrome de Martsolf Cataract - intellectual deficit - hypogonadism Cataracte - déficit intellectuel - hypogonadisme Catarata - atraso mental - hipogonadismo Cataratas - déficit intelectual - hipogonadismo Cataratta - ritardo mentale - ipogonadismo Katarakt - geistige Retardierung - Hypogonadismus hrdo:pat_id_1594 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 302380 C535347 Q87.8 1388 C1844887 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Palatodigital syndrome, type Catel-Manzke Palatodigitales Syndrom Typ Catel-Manzke Pierre robin sequence - hyperphalangy - clinodactyly Pierre robin syndrome - hyperphalangy - clinodactyly Pierre-Robin-Sequenz - Hyperphalangie - Klinodaktylie Pierre-Robin-Syndrom - Hyperphalangie - Klinodaktylie Secuencia de Pierre Robin - hiperfalangia - clinodactilia Sequence de Pierre Robin - hyperphalangie - clinodactylie Sequenza di Pierre Robin - iperfalangia - clinodattilia Sindrome di Pierre Robin - iperfalangia - clinodattilia Sindrome palatodigitale, tipo Catel-Manzke Syndrome Palato-digital, type Catel-Manzke Syndrome de Pierre Robin - hyperphalangie - clinodactylie Síndrome de Pierre Robin - hiperfalangia - clinodactilia Síndrome de Pierre-Robin - hiperfalangia - clinodactilia Síndrome palatodigital, tipo Catel-Manzke Catel-Manzke syndrome Catel-Manzke-Syndrom Sindrome di Catel-Manzke Syndrome de Catel-Manzke Síndrome de Catel-Manzke Síndrome de Catel-Manzke hrdo:pat_id_1595 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 218010 1389 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cecità corticale - ritardo mentale - polidattilia Cegueira cortical - atraso mental - polidactilia Ceguera cortical - déficit intelectual - polidactilia Cortical blindness - intellectual deficit - polydactyly Cécité corticale - déficit intellectuel - polydactylie Kortikale Blindheit - geistige Retardierung - Polydaktylie hrdo:pat_id_1596 neant Q87.8 1390 malformation syndrome Hunter-Thompson-Reed syndrome Hunter-Thomson-Reed, síndrome de Hunter-Thomson-Reed-Syndrom Sindrome di Hunter-Thompson-Reed Syndrome de Hunter-Thompson-Reed Síndrome de Hunter-Thomson-Reed Cecità notturna - anomalie scheletriche - dismorfismi Cegueira noturna - anomalias esqueléticas - facies peculiar Ceguera nocturna - anomalías esqueléticas - dismorfismo Cécité nocturne - anomalies squelettiques - dysmorphie faciale Nachtblindheit - Skelettanomalien - Dysmorphien Night blindness - skeletal anomalies - dysmorphism hrdo:pat_id_1599 Variabel Variabile Variable Variable Variable Variable Variável 117650 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Cerebro+costo+mandibular+OR+Cerebrocostomandibular+OR+%28Rib+gap+defects+AND+micrognathia%29 Q87.8 1393 51780007 C0265342 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Smith-Theiler-Schachenmann-Syndrom Cerebro-costo-mandibular syndrome Sindrome cerebro-costo-mandibolare Syndrome cérébro-costo-mandibulaire Síndrome cerebro costo mandibular Síndrome cerebro-costo-mandibular Zerebro-kosto-mandibuläres Syndrom hrdo:pat_id_16 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 232500 263570 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=glycogen+storage+disease+type+iv%5Bmajr%5D E74.0 367 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Amilopectinose Amilopectinosi Amilopectinosis Amylopectinose Amylopectinosis Amylopektinose Andersen disease Andersen, doença de Andersen-Glykogenose Deficiência na ramificação do Glicogénio Doença de Andersen Doença no armazenamento de glicogénio, tipo 4 Enfermedad de Andersen Enfermedad de almacenamiento de glucógeno tipo 4 GSD da deficit dell'enzima ramificante il glicogeno GSD due to glycogen branching enzyme deficiency GSD par déficit en enzyme branchante GSD por déficit de enzima ramificante del glucógeno GSD tipo 4 GSD type 4 GSD type 4 GSD, tipo 4 Glicogenosi da deficit dell'enzima ramificante il glicogeno Glicogenosi, tipo 4 Glicogénio, deficiência na ramificação do Glicogénio, doença no armazenamento de, tipo 4 Glucogenosis por déficit de enzima ramificante del glucógeno Glucogenosis tipo 4 Glycogen storage disease type 4 Glycogenosis due to glycogen branching enzyme deficiency Glycogénose type 4 Glykogen-Speicherkrankheit Typ 4 Maladie d'Andersen Malattia da deposito di glicogeno, tipo 4 Malattia di Andersen Type 4 glycogenosis Enfermedad de almacenamiento de glucógeno por déficit de enzima ramificante del glucógeno Glicogenose tipo 4 Glycogen storage disease due to glycogen branching enzyme deficiency Glycogénose par déficit en enzyme branchante Glykogenose Typ 4 Malattia da deposito di glicogeno da deficit dell'enzima ramificante il glicogeno hrdo:pat_id_160 Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Vitamin+D+resistant+rickets%5BTW%5D+OR+%28familial+hypophosphatemia%5Bti%5D+OR+hypophosphatemia%2C+familial%5BMH%5D%29+AND+rickets%5BTW%5D E83.3 437 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hypophosphatemic rickets Hypophosphatämische Rachitis Rachitisme hypophosphatémique Rachitismo ipofosfatemico Raquitismo hipofosfatémico Raquitismo resistente à vitamina D hrdo:pat_id_1600 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 213980 neant Q87.5 1394 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Pascual-Castroviejo syndrome type 1 Pascuel-Castroviejo, síndrome de Pascuel-Castroviejo-Syndrom Typ 1 Sindrome di Pascual Castroviejo, tipo 1 Syndrome de Pascual Castroviejo type 1 Síndrome de Pascual-Castroviejo tipo 1 Síndrome de Pascuel-Castroviejo Cerebro-facio-thoracic dysplasia Displasia cerebro-facio-toracica Displasia cerebro-facio-torácica Displasia cerebro-facio-torácica Dysplasie cérébro-facio-thoracique Dysplasie, zerebro-fazio-thorakale hrdo:pat_id_1603 609345 neant Q87.8 1396 malformation syndrome Meckel-like, síndrome Meckel-änliches Syndrom Sindrome Meckel-simile Síndrome Meckel-like Síndrome de Meckel-like Cerebro-reno-digital syndrome Sindrome cerebro-reno-digitale Syndrome cérébro-réno-digital Síndrome cerebro-reno-digital Síndrome cerebro-reno-digital Zerebro-reno-digitales Syndrom hrdo:pat_id_1604 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 307010 Q04.3 1397 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Agenesia do cerebelo - hidrocefalia Aplasia cerebelosa hidrocefalia Aplasia del cervelletto - idrocefalo Aplasie du cervelet - hydrocéphalie Cerebellum agenesis - hydrocephaly Kleinhirn-Agenesie - Hydrozephalus hrdo:pat_id_1605 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Cerebellar+hypoplasia*%5Bti%5D+OR+Cerebellar+abnormalit*%5Bti%5D Q04.3 1398 morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hypoplasie, zerebelläre Hypoplasie/agénésie isolée cérébelleuse Hipoplasia cerebelar Hipoplasia/agenesia cerebelosa aislada Hypoplasie/agénésie isolée du cervelet Ipoplasia/agenesia isolata del cervelletto Isolated cerebellar hypoplasia/agenesis Zerebelläre Hypoplasie/Aplasie, isolierte hrdo:pat_id_1606 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 245100 C535674 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=deaf+mutism[ti]+%28ataxia[ti]+OR+spino+cerebellar+degeneration%29+OR+%28%28hearing+loss[ti]+OR+deafness[ti]%29+ataxia[ti]+mental+retardation%29 G60.2 1399 C0796136 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Aciduria chetonica - ritardo mentale - atassia - sordità Cetoacidúria - déficit intelectual - ataxia - sordera Cétoacidurie - déficit intellectuel - ataxie - surdité Ketoaciduria - intellectual deficit - ataxia - deafness Richards-Rundle-Syndrom Richars-Rundle, síndrome de Síndrome de Richars-Rundle Cetoacidúria - atraso mental - ataxia - surdez Ketoazidose - geistige Retardierung - Ataxie - Taubheit Richards-Rundle syndrome Sindrome di Richards-Rundle Syndrome de Richards-Rundle Síndrome de Richards-Rundle hrdo:pat_id_1607 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 214350 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Chands%5Btw%5D+OR+chand+syndrome*%5Btw%5D Q82.4 1401 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Baughman syndrome Baughman, síndrome de Baughman-Syndrom CHANDS CHANDS Cabellos rizados - anquilobléfaron - displasia ungueal Cabelo encarapinhado - anquiloblefaro - diplasia ungueal, síndrome Cheveux frisés - ankyloblépharon - dysplasie des ongles Curly hair - ankyloblepharon - nail dysplasia syndrome Kraushaar - Ankyloblepharon - Nageldysplasie Sindrome dei capelli ricci - anchiloblefaron - displasia delle unghie Sindrome di Baughman Síndrome cabelo encarapinhado - anquiloblefaro - displasia ungueal Síndrome de Baughman Síndrome de Baughman CHAND syndrome CHANDS-Syndrom Sindrome CHANDS Syndrome CHAND Síndrome CHANDS Síndrome CHANDS hrdo:pat_id_1608 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 234030 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=photosensitivity+eyelashes+mental+retardation 1408 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Calderon-Gonzalez Cantu syndrome Calderon-Gonzalez-Cantu, síndrome de Calderon-Gonzalez-Cantu-Syndrom Sindrome di Calderon-Gonzalez-Cantu Syndrome de Calderon-Gonzalez-Cantu Síndrome de Calderon-Gonzalez-Cantu Anomalie dei capelli - fotosensibilità - ritardo mentale Anomalie des cheveux - photosensibilité - déficit intellectuel Anomalías del cabello - fotosensibilidad - déficit intelectual Defeitos no cabelo - fotossensibilidade - atraso mental Haaranomalien - Photosensibilität - geistige Retardierung Hair defect - photosensitivity - intellectual deficit hrdo:pat_id_1609 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 278200 C536746 1409 C0406718 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Salamon syndrome Salamon-Syndrom Sindrome di Salamon Syndrome de Salamon Síndrome de Salamon Wooly hair - hypotrichosis - everted lower lip - outstanding ears Cabello lanoso - hipotricosis - labio inferior evertido - orejas prominentes Cabelo encarapinhado - hipotricose - lábio inferior evertido - pavilhões auriculares descolados Capelli lanosi - ipotricosi - labbro inferiore rovesciato all'esterno - orecchie prominenti Cheveux laineux - hypotrichose - lèvres éversées - oreilles décollées Wollhaare - Hypotrichose - evertierte Unterlippe - abstehende Ohren Woolly hair - hypotrichosis - everted lower lip - outstanding ears hrdo:pat_id_161 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 146000 10020967 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%22achondroplasia%22%5BMeSH+Major+Topic%5D+OR+%22osteochondrodysplasias%22%5BMeSH+Major+Topic%5D%29+AND+hypochondroplasia%5Btw%5D Q77.4 429 205468002 C0410529 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Hipocondroplasia Hipocondroplasia Hypochondroplasia Hypochondroplasie Hypochondroplasie Ipocondroplasia hrdo:pat_id_1610 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 191480 C536939 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=uncombable+hair%5Bti%5D+OR+spun+glass+hair%5Bti%5D+OR+pili+trianguli+et+canaliculi%5Bti%5D Q84.1 1410 254230001 C0432347 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Peli triangolari e scanalati Pili trianguli et canalicli Pili trianguli et canaliculi Pili trianguli et canaliculi Pili trianguli et canaliculi Sindrome dei capelli non pettinabili Syndrom der nicht kämmbaren Haare Syndrome des cheveux incoiffables Síndrome cabelo impenteável Síndrome del cabello impeinable Uncombable hair syndrome hrdo:pat_id_1612 186400 186570 C536943 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(tarsal%5Bti%5D+carpal%5Bti%5D+OR+carpal+bones%2Fab+tarsal+bones%2Fab)+(Synostosis+OR+coalition)+NOT+Spondylocarpotarsal Q74.8 1412 C1861305 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Anomalias do tornozelo - baixa estatura Sindrome con fusione carpotarsale Sinostose do astrágalo e calcâneo - baixa estatura Syndrome de coalition tarso-carpienne Síndrome con coalición tarso-carpal Tarsal-Karpal-Fusions-Syndrom Tarsal-carpal coalition syndrome hrdo:pat_id_1614 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 118600 600668 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28chondrocalcinosis%5Bmajr%5D+OR+Chondrocalcinosis%5BTi%5D%29+%28familial%5Btw%5D+OR+family+OR+congenital+OR+genetics%29 M11.1 1416 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Arthropathie familiale à cristaux de pyrophosphate de calcium Arthropathie à cristaux de pyrophosphate de calcium dihydraté CPPD CPPD CPPD CPPD CPPD CPPDD CPPDD CPPDD CPPDD CPPDD Calcium pyrophosphate deposition disease Calcium pyrophosphate dihydrate crystal deposition disease Enfermedad por depósito de cristales de pirofosfato de calcio dihidratado Enfermedad por depósito de pirofosfato de calcio Kalzium-Pyrophosphat-Speicherkrankheit Kalziumpyrophosphat-Kristallablagerungskrankheit Kalziumpyrophosphat-Kristallarthropathie Malattia da accumulo di cristalli di pirosfato di calcio diidrato Malattia da accumulo di pirofosfato di calcio Chondrocalcinose articulaire familiale Chondrokalzinose, artikuläre familiäre Condrocalcinose articular familiar Condrocalcinosi articolare familiare Condrocalcinosis articular familiar Familial articular chondrocalcinosis hrdo:pat_id_1617 1420 malformation syndrome Moerman-Vandenberghe-Fryns syndrome Moerman-Vandenberghe-Fryns, síndrome de Moerman-Vandenberghe-Fryns-Syndrom Sindrome di Moerman-Van den Berghe-Fryns Syndrome de Moerman-Vandenberghe-Fryns Síndrome de Moerman-Vandenberghe-Fryns Síndrome de Moerman-Vandenberghe-Fryns Chondrodysplasie létale type Moerman Chondrodysplasie, letale, Typ Moerman Condrodisplasia letal tipo Moerman Condrodisplasia letal tipo Moerman Condrodisplasia letale, tipo Moerman Lethal chondrodysplasia, Moerman type hrdo:pat_id_1618 601376 1421 malformation syndrome Chondrodysplasie létale type Seller Chondrodysplasie, letale, Typ Seller Condrodisplasia letal tipo Seller Condrodisplasia letal tipo Seller Condrodisplasia letale, tipo Seller Lethal chondrodysplasia, Seller type hrdo:pat_id_162 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 146300 241500 241510 D007014 10049933 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22hypophosphatasia%22%5BMeSH+Terms%5D+OR+%28Hypophosphatasia%5BText+Word%5D+NOT+medline%5Bsb%5D%29 E83.3 436 190859005 360792001 C0020630 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Doença de Rathburn Enfermedad de Rathburn Fosfoetanolaminuria Fosfoetanolaminuria Fosfoetanolaminúria HPP HPP HPP HPP HPP Maladie de Rathburn Malattia di Rathburn Phosphoethanolaminuria Phosphoethanolaminurie Phosphoéthanolaminurie Rathbun-Syndrom Rathburn disease Rathburn, doença de Hipofosfatasia Hipofosfatasia Hypophosphatasia Hypophosphatasie Hypophosphatasie Ipofosfatasia hrdo:pat_id_1624 Normal Normal Normal Normal Normal Normal Normale Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 156500 C537352 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28chondrodysplasia+OR+osteochondrodysplasias%5Bmh%5D%29+AND+Schmid%5Btw%5D Q78.5 174 29248006 C0265289 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Chondrodysplasie métaphysaire type Schmid Chondrodysplasie, metaphysäre, Typ Schmid Condrodisplasia metafisaria tipo Schmid Condrodisplasia metafisaria, tipo Schmid Condrodisplasia metafisária, tipo Schmid Metaphyseal chondrodysplasia, Schmid type hrdo:pat_id_1631 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 251450 300881 C535943 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Desbuquois%5Bti%5D Q78.8 1425 254099008 C0432242 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Desbuquois dysplasia Dysplasie de Desbuquois Desbuquois syndrome Desbuquois-Syndrom Sindrome di Desbuquois Syndrome de Desbuquois Síndrome de Desbuquois Síndrome de Desbuquois hrdo:pat_id_1632 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 215140 C537299 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Greenberg%5Bti%5D+dysplasia%5Bti%5D+OR+%28chondrodystrophy%5Bti%5D+AND+congenital+hydrops%5Bti%5D%29 Q77.3 1426 389261002 C1300226 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia HEM Displasia esquelética tipo Greenberg Displasia scheletrica, tipo Greenberg Hydrops - ectopic calcification - motheaten Skeletal dysplasia, Greenberg type Skelettdysplasie, Typ Greenberg Displasia Greenberg Displasia de Greenberg Displasia di Greenberg Dysplasie squelettique létale type Greenberg Greenberg dysplasia Greenberg-Dysplasie hrdo:pat_id_1633 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 215150 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Oto+spondylo+megaepiphyseal+OR+Otospondylomegaepiphyseal+OR+OSMED%5Btw%5D Q77.7 1427 254060000 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 OSMED OSMED 'Displasia oto-espondilo-megaepifísária; OSMED' Displasia oto-espondilo-megaepifisaria Displasia oto-spondilo-megaepifisaria Dysplasie oto-spondylo-mégaépiphysaire Dysplasie, oto-spondylo-megaepiphysäre Otospondylomegaepiphyseal dysplasia hrdo:pat_id_1634 118700 215450 G25.5 1429 disease Chorée bénigne héréditaire Corea benigna hereditaria Corea ereditaria benigna Hereditary benign chorea Benign familial chorea Chorea, familiäre gutartige Chorée bénigne familiale Corea benigna familiar Corea familiare benigna Coreia benigna familiar hrdo:pat_id_1636 156590 neant 1432 malformation syndrome Autosomal dominant chorioretinopathy - microcephaly Chorioretinopathie - Mikrozephalie, autosomal-dominante Form Choriorétinopathie - microcéphalie autosomique dominante Corioretinopatia - microcefalia, autosomica dominante Coriorretinopatia - microcefalia, autossómica dominante Coriorretinopatía - microcefalia, autosómica dominante hrdo:pat_id_1637 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 1433 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Moloney syndrome Moloney, síndrome de Moloney-Syndrom Sindrome di Moloney Syndrome de Moloney Síndrome de Moloney Síndrome de Moloney Atrofia coroidea - alopecia Atrofia da coróide - alopecia Atrofia della coroide - alopecia Atrophie choroïde - alopécie Choroidal atrophy - alopecia Choroidea-Atrophie - Alopezie hrdo:pat_id_1638 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 303110 1435 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Ayazi syndrome Ayazi, síndrome de Ayazi-Syndrom Sindrome di Ayasi Syndrome d'Ayazi Síndrome de Ayasi Síndrome de Ayazi Chorioideremie - Taubheit - Adipositas Choroideremia - deafness - obesity Choroïdérémie - obésité - surdité Coroideremia - obesità - sordità Coroideremia - surdez - obesidade Coroiderémia - obesidad - sordera hrdo:pat_id_1639 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 309620 neant Q87.5 1436 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Christian syndrome Christian, síndrome de Christian-Syndrom Displasia scheletrica - deficit cognitivo Displasia óssea - atraso mental Sindrome di Christian Syndrome de Christian Síndrome de Christian Anomalies squelettiques - déficit intellectuel Displasia esquelética - déficit intelectual Displasia scheletrica - ritardo mentale Displasia óssea - défice intelectual Skeletal dysplasia - intellectual deficit Skelettdysplasie - Intelligenzminderung hrdo:pat_id_164 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 307000 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Hydrocephalus%5Ball%5D+AND+X-linked%5Btw%5D Q03.0 2182 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive clinical subtype 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Bickers-Adams syndrome Bickers-Adams-Syndrom Estenose do aqueduto de Sylvius, ligada ao X Estenosis del acueducto ligada al X HSAS HSAS HSAS HSAS HSAS liée à l'X Hydrocéphalie avec sténose de l'aqueduc de Sylvius liée à l'X Sindrome di Bickers-Adams Stenosi acqueduttale legata all'X Syndrome de Bickers-Adams Síndrome de Bickers-Adams X-linked HSAS X-linked acqueductal stenosis X-linked hydrocephalus with stenosis of aqueduct of Sylvius Hidrocefalia con estenosis del acueducto de Silvio Hidrocefalia, ligada ao X Hydrocephalus with stenosis of aqueduct of Sylvius Hydrocéphalie avec sténose de l'aqueduc de Sylvius Hydrozephalus mit Stenose des Aquaeductus Sylvii Idrocefalo con stenosi dell'acquedotto di Silvio hrdo:pat_id_1640 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter C535487 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=((Chromosome+14%5Bmh%5D+ring+chromosomes%5Bmh%5D)+OR+(ring+chromosome+14%5Btw%5D+NOT+deletion))+NOT+(Translocation%5Bmh%5D+OR+trisomy) Q93.2 1440 C2930916 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anel do cromossoma 14 Chromosome 14 en anneau Cromosoma 14 ad anello Cromosoma 14 en anillo Cromossoma 14 em anel Ring chromosome 14 Ringchromosom 14 hrdo:pat_id_1641 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=((Chromosome+19%5Bmh%5D+ring+chromosomes%5Bmh%5D)+OR+ring+chromosome+19%5Btw%5D)+NOT+trisomy Q93.2 1443 malformation syndrome Anel do cromossoma 19 Chromosome 19 en anneau Cromosoma 19 ad anello Cromosoma 19 en anillo Cromossoma 19 em anel Ring chromosome 19 Ringchromosom 19 hrdo:pat_id_1642 C537813 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Chromosome+7%5Bmh%5D+ring+chromosomes%5Bmh%5D)+OR+ring+chromosome+7%5Btw%5D Q93.2 1449 C0795818 C2931622 malformation syndrome Anel do cromossoma 7 Chromosome 7 en anneau Cromosoma 7 ad anello Cromosoma 7 en anillo Cromossoma 7 em anel Ring chromosome 7 Ringchromosom 7 hrdo:pat_id_1643 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 119650 1453 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome di Wallis-Zieff-Goldblatt Syndrome de Wallis-Zieff-Goldblatt Síndrome de Wallis-Zieff-Goldblatt Síndrome de Wallis-Zieff-Goldblatt Wallis-Zieff-Goldblatt syndrome Wallis-Zieff-Goldblatt, síndrome de Wallis-Zieff-Goldblatt-Syndrom Cleido rhizomelic syndrome Cleido-rhizomeles Syndrom Sindrome cleidorizomelica Syndrome cleido-rhizomélique Síndrome cleido-rizomélico Síndrome cleidorizomélico hrdo:pat_id_1644 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 216360 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Coach+syndrome%5Btw%5D K74.0 Q04.3 1454 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown COACH syndrome COACH-Syndrom Cerebellar vermis hypoplasia - oligophrenia - congenital ataxia - coloboma - hepatic fibrosis Gentile syndrome Gentile-Syndrom Hipo/aplasia do vermis cerebeloso - oligofrenia - ataxia congénita - coloboma - fibrose hepática Hipoplasia del vermis cerebeloso - oligofrenia - ataxia congénita - coloboma - fibrosis hepática Hypo/Aplasie des Kleinhirnwurms - Oligophrenie - kongenitale Ataxie - Kolobom - Leberfibrose Hypoplasie du vermis cérébelleux - oligophrénie - ataxie congénitale - colobome - fibrose hépatique Ipoplasia del verme cerebellare - oligofrenia - atassia congenita - coloboma - fibrosi epatica JS-H JS-H JS-H JS-H JS-H Joubert syndrome with congenital hepatic fibrosis Joubert-Syndrom mit kongenitaler hepatischer Fibrose Sindrome COACH Sindrome di Gentile Sindrome di Joubert con fibrosi epatica congenita Syndrome COACH Syndrome Gentile Síndrome COACH Síndrome Gentile Síndrome de Joubert con fibrosis hepática congénita Joubert syndrome with hepatic defect Joubert-Syndrom mit hepatischem Defekt Sindrome di Joubert con difetto epatico Syndrome de Joubert avec atteinte hépatique Síndrome COACH Síndrome de Joubert con defecto hepático hrdo:pat_id_1645 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 300216 D058456 10015901 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Coats+disease%5Btw%5D+OR+Coats%27s+disease%5Btw%5D H35.0 190 25506007 360455002 C0154832 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Aneurisma miliar de Leber Aneurisma miliare di Leber Anévrysme miliaire de Leber Coats-Retinopathie Congenital retinal telangiectasia Leber miliary aneurysm Telangectasia retinica congenita Telangiectasia retiniana congénita Teleangiektasien der Retina, kongenitale Télangiectasie rétinienne congénitale Coats disease Coats-Syndrom Doença de Coats Enfermedad de Coats Maladie de Coats Malattia di Coats hrdo:pat_id_1647 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 600373 C536434 neant Q87.8 1458 C1838180 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cerebro-oculo-dento-auriculo-skeletal syndrome Cerebro-óculo-dento-auriculo-ósseo, síndrome Sindrome cerebro-oculo-dento-auricolo-scheletrica Syndrome cérébro-oculo-dento-auriculo-squelettique Síndrome cerebro-oculo-dento-auriculo-esquelético Síndrome cerebro-óculo-dento-auriculo-ósseo Zerebro-okulo-dento-aurikulo-skelettales Syndrom CODAS syndrome CODAS-Syndrom Sindrome CODAS Syndrome CODAS Síndrome CODAS Síndrome CODAS hrdo:pat_id_1649 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 214150 610756 610758 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Cofs[ti]+OR+%28Cerebro[ti]+oculo[ti]+%28facio[ti]+OR+facial[ti]+OR+facioskeletal[ti]%29+%28skeletal[ti]+OR+facioskeletal[ti]%29%29 Q87.1 1466 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cerebro-óculo-facio-esquelético, síndrome Cerebrooculofacioskeletal syndrome Pena-Shokeir syndrome type 2 Pena-Shokeir tipo 2, síndrome de Pena-Shokeir-Syndrom Typ 2 Sindrome cerebro-oculo-facio-scheletrica Sindrome di Pena-Shokeir, tipo 2 Syndrome cérébro-oculo-facio-squelettique Syndrome de Pena-Shokeir type 2 Síndrome cerebro óculo facio esquelético Síndrome cerebro-óculo-facio-esquelético Síndrome de Pena-Shokeir tipo 2 Síndrome de Pena-Shokeir, tipo 2 Zerebro-okulo-fazio-skelettales Syndrom COFS syndrome COFS-Syndrom Sindrome COFS Syndrome COFS Síndrome COFS Síndrome COFS hrdo:pat_id_1654 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 120400 C535969 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=coloboma+AND+%28brachydactyl*%5Bti%5D+OR+%28%22type+b%22+brachydactyly%29%29+OR+Sorsby+syndrome%5Btw%5D Q87.1 1471 C1852752 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome di Sorsby Sorsby syndrome Sorsby, síndrome de Sorsby-Syndrom Syndrome de Sorsby Síndrome de Sorsby Síndrome de Sorsby Coloboma macular - braquidactilia tipo B Coloboma macular - braquidactilia tipo b Coloboma maculare - brachidattilia tipo B Coloboma of macula - brachydactyly type B Colobome maculaire - brachydactylie type B Makula-Kolobom - Brachydaktylie Typ B hrdo:pat_id_1659 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 301815 C535465 C538135 neant Q87.8 1484 C1844935 C2931745 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Ladda-Zonana-Ramer syndrome Ladda-Zonana-Ramer, síndrome de Ladda-Zonana-Ramer-Syndrom Sindrome di Ladda-Zonana-Ramer Syndrome de Ladda-Zonana-Ramer Síndrome de Ladda-Zonana-Ramer Síndrome de Ladda-Zonana-Ramer Artrogripose - displasia ectodérmica - fenda lábio-palatina Contracturas - displasia ectodérmica - fisura labiopalatina Contractures - dysplasie ectodermique - fente labiopalatine Contractures - ectodermal dysplasia - cleft lip/palate Contratture - displasia ectodermica - labiopalatoschisi Kontrakturen - ektodermale Dysplasie - Lippen-Kiefer-Gaumenspalte hrdo:pat_id_1660 253310 C537194 neant Q68.8 1486 C1854664 malformation syndrome Artrogripose múltipla tipo filandês, síndrome de Doença de Herva Enfermedad de Herva Herva disease Herva, doença de Herva-Krankheit LCCS1 LCCS1 LCCS1 Maladie de Herva Malattia di Herva Multiple contracture syndrome, Finnish type Sindrome da contratture multiple, tipo Finlandese Syndrom der multiplen Kontrakturen, finnischer Typ Syndrome des contractures multiples type finlandais Síndrome de artrogripose múltipla tipo filandês Síndrome de contracturas múltiples, tipo finlandés Lethal congenital contracture syndrome type 1 Sindrome da contratture congenite letali, tipo 1 Syndrom der letalen Kontrakturen Typ 1 Syndrome des contractures congénitales létales type 1 Síndrome de artrogripose congénita letal Síndrome de contracturas congénitas letales tipo 1 hrdo:pat_id_1662 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 106995 neant Q84.6 1487 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anonichia - onicodistrofia con ipoplasia o assenza delle falangi distali Anoniquia-onicodistrofia con hipoplasia o ausencia de falanges distales Anonychia - onychodystrophy with hypoplasia or absence of distal phalanges Anonychie - onychodystrophie avec hypoplasie ou basence de phalanges distales Cooks, síndrome de Cooks-Syndrom ODP ODP ODP ODP Síndrome de Cooks Anonychie - Onychodystrophie mit Hypoplasie oder Fehlen der distalen Phalangen Anoníquia-onicodistrofia com hipoplasia ou ausência das falanges distais Cooks syndrome Sindrome di Cooks Syndrome de Cooks Síndrome de Cooks hrdo:pat_id_1663 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 217400 C535473 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Corneal+Dystrophies,+Hereditary%5Bmh%5D+OR+Corneal+dystroph*%5Btw%5D)+(deafness+OR+hearing+loss)+OR+Harboyan%5Btw%5D H18.5 1490 C1857572 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CDPD CDPD CDPD CDPD Corneal dystrophy with progressive deafness Distrofia corneale con sordità progressiva Dystrophie cornéenne avec surdité progressive Harboyan syndrome Harboyan-Syndrom Syndrome de Harboyan Corneal dystrophy - perceptive deafness Distrofia corneale - sordità percettiva Distrofia da córnea - surdez percetiva Distrofia de córnea - sordera de percepción Dystrophie cornéenne - surdité de perception Hornhautdystrophie - Schallempfindungs-Schwerhörigkeit hrdo:pat_id_1665 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 242840 neant Q87.8 1493 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Agenesia de cuerpo calloso - cataratas - inmunodeficiencia Agenesia del corpo calloso - cataratta - immunodeficienza Agénesie du corps calleux - cataracte - immunodéficience Corpus callosum agenesis - cataract - immunodeficiency Corpus callosum-Agenesie - Katarakt - Immundefekt Dionisi-Vici-Sabetta-Gambarara syndrome Dionisi-Vici-Sabetta-Gambarara, síndrome de Dionisis-Vici-Sabetta-Gambarara-Syndrom Sindrome di Dionisi Vici-Sabetta-Gambarara Syndrome de Vici-Sabetta-Gambarara Síndrome de Dionisi-Vici-Sabetta-Gambarara Síndrome de Dionisi-Vici-Sabetta-Gambarara Agenesia do corpo caloso - catarata - imunodeficiência Sindrome di Vici Syndrome de Vici Síndrome de Vici Vici syndrome Vici-Syndrom hrdo:pat_id_1667 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 217990 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=mental+retardation+hypoplastic+corpus+callosum+preauricular+tag Q87.8 1495 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Da Silva syndrome Da Silva, síndrome de Da-Silva-Syndrom Sindrome di Da Silva Syndrome de Da Silva Síndrome de Da Silva Síndrome de Da Silva Agenesia de cuerpo calloso microcefalia talla baja Agenesia del corpo calloso - microcefalia - bassa statura Agénésie du corps calleux - microcéphalie - petite taille Atraso mental - hipoplasia do corpo caloso - apêndice pré-auricular Geistige Retardierung - Hypoplasie des Corpus callosum - präaurikuläre Anhängsel Intellectual deficit - hypoplastic corpus callosum - preauricular tag hrdo:pat_id_16677 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 137577 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Asfissia perinatale Asfixia perinatal Asphyxie périnatale Danno cerebrale ipossico e ischemico nel neonato EHI Encefalopatia ipossico-ischemica Encefalopatía hipóxico isquémica Encéphalopathie hypoxique-ischémique HIE Hipoxia perinatal Hypoxic and ischemic brain injury in the newborn Hypoxic-ischemic encephalopathy Hypoxie périnatale Hypoxische und ischämische Hirnverletzung des Neugeborenen Ipossia perinatale Lesión cerebral isquémica e hipóxica del recien nacido Lésion cérébrale ischémique et hypoxique du nouveau-né Perinatal asphyxia Perinatal hypoxia Perinatale Asphyxie Perinatale Hypoxie Danno cerebrale ischemico e ipossico neonatale Hypoxisch-ischämische Enzephalopathie (HIE) Lesión cerebral isquémica e hipóxica neonatal Lesão cerebral, neonatal Lésion cérébrale ischémique et hypoxique néonatale Neonatal hypoxic and ischemic brain injury hrdo:pat_id_16678 137583 disease Tumeur intraépithéliale de la vulve Tumor vulvar intraepitelial Tumore intraepiteliale vulvare Vulvakarzinom Vulvar intraepithelial tumor Neoplasia intraepiteliale vulvare Neoplasia vulvar epitelial Neoplasia vulvar intraepitelial Néoplasie intraépithéliale de la vulve Vulvar intraepithelial neoplasia Vulväre intraepitheliale Neoplasie hrdo:pat_id_16679 Variabel Variabile Variable Variable Variable Variable Variável neant B00.5+ H19.1* 137586 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cheratite da HSV Cheratite erpetica HSV keratitis HSV-Keratitis Herpeskeratitis Herpetic keratitis Herpès oculaire Kératite due au HSV Kératite herpétique Queratitis herpética Queratitis por VHS Cheratite da virus herpes simplex Herpes simplex virus keratitis Herpes simplex-Keratitis Kératite due au virus Herpès simplex Queratite pelo vírus herpes simplex Queratitis por virus del herpes simple hrdo:pat_id_1668 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 304100 neant Q04.8 1497 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Agenesia complessa del corpo calloso legata all'X Agénésie du corps calleux liée à l'X complexe Corpus callosum-Dysgenesie, komplizierte, X-chromosomale Disgenesia del cuerpo calloso compleja ligada al X Disgenesia do corpo caloso, ligada ao X, recessiva X-linked complicated corpus callosum dysgenesis hrdo:pat_id_16680 137593 disease Cheratite epiteliale infettiva Infectious epithelial keratitis Keratitis, epitheliale infektiöse Kératite infectieuse épithéliale Queratite infecciosa epitelial Queratitis epitelial infecciosa hrdo:pat_id_16681 10069732 137596 disease Kératite neurotrophique Neurotrophic keratitis Queratitis neurotrófica Cheratopatia neurotrofica Keratopathie, neurotrophe Kératopathie neurotrophique Neurotrophic keratopathy Queratopatia neurotrófica Queratopatía neurotrófica hrdo:pat_id_16682 137599 1763009 C1318020 disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Cheratite stromale Keratitis, stromale Kératite stromale Queratite do estroma Queratitis estromal Stromal keratitis hrdo:pat_id_16683 137602 disease Endotelite Endotelite Endotelitis Endotheliitis Endotheliitis Endothélite herpétique hrdo:pat_id_16684 611431 C548032 neant L81.3 137605 C1969623 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Legius-Syndrom NF1-like syndrome Neurofibromatosis 1-like syndrome Sindrome NF1-simile Sindrome simil-neurofibromatosi 1 Syndrome NF1-like Syndrome neurofibromatose 1-like Síndrome tipo NF1 Síndrome tipo neurofibromatosis 1 Legius syndrome Neurofibromatose 1-like síndrome Neurofibromatose 1-ähnliches Syndrom Sindrome di Legius Syndrome de Legius Síndrome de Legius hrdo:pat_id_1669 neant Q87.5 1499 malformation syndrome Cortada-Koussef-Matsumoto syndrome Cortada-Koussef-Matsumoto-Syndrom Sindrome di Cortada-Koussef-Matsumoto Syndrome de Cortada-Koussef-Matsumoto Síndrome de Cortada-Koussef-Matsumoto Síndrome de Cortada-Koussef-Matsumoto hrdo:pat_id_16690 158350 neant 137608 malformation syndrome SOLAMEN syndrome SOLAMEN-Syndrom Sindrome SOLAMEN Syndrome SOLAMEN Crescita segmentaria eccessiva - lipomatosi - malformazione arterovenosa - nevo epidermico Croissance disproportionnée - lipomatose - malformation vasculaire - nevus épidermique Excrecencias segmentarias - lipomatosis - malformación arterio-venosa - nevus epidérmicos Protusão segmentar - lipomatose - malformação arteriovenosa - nevo epidérmico Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus Segmentaler Auswuchs - Lipomatose - arteriovenöse Fehlbildung - epidermaler Naevus hrdo:pat_id_16692 10067467 137617 424114000 disease Dermopathie fibrosante néphrogénique Dermopatia fibrosante nefrogenica Dermopatía fibrosante nefrogénica Nephrogene systemische Fibrose (NSF) Nephrogenic fibrosing dermopathy Dermopatia fibrosante nefrogénica Fibrose systémique fibrogénique Fibrosi sistemica nefrogenica Fibrosis sistémica nefrogénica Nephrogene fibrosierende Dermopathie (NFD) Nephrogenic systemic fibrosis hrdo:pat_id_16693 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 137622 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Diarrea intratable - atresia coanal - anomalías en los ojos Diarrea intrattabile - atresia delle coane - anomalie oculari Diarreia intratável - atresia das coanas - anomalias oculares Diarrhée intraitable - atrésie choanale - anomalie des yeux Intractable diarrhea - choanal atresia - eye anomalies Therapieresistente Diarrhoe - Choanalatresie - Augenanomalien hrdo:pat_id_16694 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 611556 neant E74.0 137625 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Enfermedad de almacenamiento de glucógeno tipo 0b GSD Typ 0b GSD da deficit di glicogeno sintasi muscolare e cardiaco GSD due to muscle and heart glycogen synthase deficiency GSD par déficit en glycogène synthase cardiaque et musculaire GSD por déficit de glucógeno sintasa en músculo y corazón GSD tipo 0b GSD type 0b GSD type 0b GSD, tipo 0b Glicogenosi da deficit di glicogeno sintasi muscolare e cardiaco Glicogenosi, tipo 0b Glucogenosis por déficit de glucógeno sintasa en músculo y corazón Glucogenosis tipo 0b Glycogen storage disease type 0b Glycogenosis due to muscle and heart glycogen synthase deficiency Glycogénose type 0b Glykogen-Speicherkrankheit Typ 0b Glykogenose Type 0b Malattia da deposito di glicogeno, tipo 0b Type 0b glycogenosis Enfermedad de almacenamiento de glucógeno por déficit de glucógeno sintasa en músculo y corazón Glycogen storage disease due to muscle and heart glycogen synthase deficiency Glycogènose par déficit en glycogène synthase cardiaque et musculaire Kardiomyopathie - Belastungsintoleranz durch Glykogenmangel der Muskeln Malattia da deposito di glicogeno dovuta a deficit di glicogeno sintasi cardiaco e muscolare Miocardiopatia-intolerância ao exercício por deficiência do glicogénio muscular e cardíaco hrdo:pat_id_16695 neant Q28.8 137628 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anomalie cardiache - eterotassia Anomalies cardiaques - hétérotaxie Anomalías cardiacas - heterotaxia Cardiac anomalies - heterotaxy Cardíacas, anomalias - heterotaxia Herzanomalien - Heterotaxie hrdo:pat_id_16696 611926 neant D82.8 137631 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Fibrose pulmonaire - déficit immunitaire - dysgénésie gonadique 46,XX Fibrose pulmonar - imunodeficiência - disgenesia gonadal Fibrosi polmonare - immunodeficienza - disgenesia gonadica Fibrosis pulmonar - inmunodeficiencia - disgenesia gonadal Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis Lungenfibrose - Immundefekt - Gonadendysgenesie hrdo:pat_id_16697 614192 neant 137634 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 RNF135-related overgrowth syndrome Sindrome da iperaccrescimento associato a RNF135 Syndrome de croissance excessive lié à des anomalies du gène RNF135 Síndrome de sobrecrecimiento ligado al gen RNF135 Übermäßiges Wachstum, RNF135-abhängig Crecimiento excesivo - macrocefalia - dismorfismo facial Crescimento excessivo - dificuldades de aprendizagem - dismorfias faciais Croissance excessive - macrocéphalie - dysmorphie faciale Iperaccrescimento - macrocefalia - dismorfismi facciali Overgrowth - macrocephaly - facial dysmorphism Overgrowth-Syndrom - Lernstörungen - Gesichtsdysmorphien hrdo:pat_id_16698 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 607694 neant 137639 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atassia - ritardo della dentizione - ipomielinizzazione Ataxia - delayed dentition - hypomyelination Ataxia - dentición retrasada - hipomielinización Ataxia - retraso en la dentición - hipomielinización Ataxie - retard de dentition - hypomyélination Ataxie - verzögerter Zahndurchbruch - Hypomyelinisierung Leucoencefalopatia - atassia - ipodonzia - ipomielinizzazione Leucoencefalopatia - ataxia - hipodontia - hipomielinização Leucoencefalopatía - ataxia - hipodontia - hipomielinización Leucoencéphalopathie - ataxie - hypodontie - hypomyélination Leukoencephalopathy - ataxia - hypodontia - hypomyelination Leukoenzephalopathie - Ataxie - Hypodontie - Hypomyelinisierung hrdo:pat_id_167 Normal Normal Normal Normal Normal Normal Normale Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 308905 535000 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=optic+atrophy,+hereditary,+leber%5Bmh%5D+OR+(optic+atrophies,+hereditary%5Bmh%5D+(leber+OR+lebers+OR+leber+s%5Btw%5D)) H47.2 104 Herencia mitocondrial Hérédité mitochondriale Mitochondrial inheritance Mitochondrial inheritance Mitochondriale Vererbung Modo de hereditariedade mitocondrial Trasmissione mitocondriale disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Atrofia ottica di Leber Atrofia óptica de Leber Atrophie optique de Leber LHON LHON LHON LHON LHON LHON Leber optic atrophy NOHL Neuropatia óptica hereditária de Leber Neuropatia ótica hereditária de Leber Optikus-Neuropathie Typ Leber Atrofia ótica, tipo Leber Leber hereditary optic neuropathy Leber-Optikusneuropathie, hereditäre Neuropathie optique héréditaire de Leber Neuropatia ottica ereditaria di Leber Neuropatía óptica hereditaria de Leber hrdo:pat_id_16700 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant 137653 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Kelly-Kirson-Wyatt syndrome Kelly-Kirson-Wyatt-Syndrom Sindrome di Kelly-Kirson-Wyatt Syndrome de Kelly-Kirson-Wyatt Síndrome de Kelly-Kirson-Wyatt Microcefalia - anomalias digitais - atraso mental Microcefalia - anomalie digitali - deficit cognitivo Microcefalia - anomalías digitales - déficit intelectual Microcephaly - digital anomalies - intellectual deficit Microcéphalie - anomalies digitales - déficit intellectuel Mikrozephalie - Fingeranomalien - Intelligenzminderung hrdo:pat_id_16701 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 137658 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome di Woods-Crouchman-Huson Syndrome de Woods-Crouchman-Huson Síndrome de Woods-Crouchman-Huson Woods-Crouchman-Huson syndrome Woods-Crouchman-Huson-Syndrom Microcefalia - atraso mental - anomalias das falanges e neurológicas Microcefalia - deficit cognitivo - anomalie neurologiche e falangee Microcefalia - déficit intelectual - anomalías falángicas y neurológicas Microcephaly - intellectual deficit - phalangeal and neurological anomalies Microcéphalie - déficit intellectuel - anomalies neurologiques et des phalanges Mikrozephalie - Intelligenzminderung - phalangeale und neurologische Anomalien hrdo:pat_id_16702 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 608354 neant Q27.3 137667 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CM-AVM CM-AVM CM-AVM CM-AVM Kapilläre Malformation - arteriovenöse Malformation MC-MAV Capillary malformation-arteriovenous malformation Kapilläre Fehlbildung - arteriovenöse Fehlbildung Malformación capilar - malformación arteriovenosa Malformation capillaire-malformation artérioveineuse Malformazioni capillari e arterovenose Malformação capilar-malformação arteriovenosa hrdo:pat_id_16703 137672 disease Degeneración marginal pelúcida Degenerazione marginale pellucida Degeneração marginal pelúcida Dégénérescence marginale pellucide Hornhautdegeneration, marginale pelluzide Pellucid marginal degeneration hrdo:pat_id_16704 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 212080 500000 C535584 neant I42.0 137675 C1708371 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cardiomiopatia oncocitica Cardiomiopatia xantomatosa infantile Cardiomiopatía oncocítica Cardiomiopatía xantomatosa infantil Cardiomyopathie oncocytique Cardiomyopathie xanthomateuse infantile Foamy myocardial transformation of infancy Infantile cardiomyopathy with histiocytoid change Infantile xanthomatous cardiomyopathy Kardiomyopathie mit histiozytären Veränderungen, infantile Form Kardiomyopathie, onkozytische Kardiomyopathie, xanthomatöse, infantile Form Miocardiopatía infantil con cambios histiocíticos Miocardiopatía infantil con reacción histiocitoide Miocardiopatía infantil xantomatosa Miocardiopatía oncocítica Oncocytic cardiomyopathy Transformación miocárdica espumosa de la infancia Cardiomiopatia istiocitoide Cardiomiopatía histiocitoide Cardiomyopathie histiocytoïde Histiocytoid cardiomyopathy Kardiomyopathie, histiozytoide Miocardiopatia histiocitóide hrdo:pat_id_16705 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 609162 C535766 neant Q77.7 137678 C1836683 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Czech dysplasia, metatarsal type Displasia Ceca, tipo metatarsico Displasia checa, tipo metatarsal Displasia checa, tipo metatársica Dysplasie Tchèque type métatarsique Tschechische Dysplasie, metatarsaler Typ hrdo:pat_id_16706 609060 neant 137681 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Epatoencefalopatia da COXPD1 Hepatoencefalopatía debida a COXPD1 Hepatoencephalopathy due to COXPD1 Hepatoenzephalopathie durch COXPD1 Hépatoencéphalopathie par COXPD1 Epatoencefalopatia da deficit combinato della fosforilazione ossidativa tipo 1 Hepatoencefalopatia por deficiência combinada da fosforilação oxidativa, tipo 1 Hepatoencefalopatía por déficit combinado de la fosforilación oxidativa tipo 1 Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 Hepatoenzephalopathie durch kombinierten Defekt der oxidativen Phosphorylierung Typ 1 Hépatoencéphalopathie par déficit combiné de la phosphorylation oxydative de type 1 hrdo:pat_id_16708 10022821 10053868 neant N85.6 137686 361115000 48236007 C0156372 C1704274 disease Adesioni intrauterine Adhesiones intrauterinas Adhésions intrautérines Asherman-Fritsch-Syndrom Intrauterine Adhäsionen Intrauterine adhesions Intrauterine synechiae Sinequia intrauterina Synéchie utérine Asherman's syndrome Asherman-Syndrom Sindrome di Asherman Syndrome d'Asherman Síndrome de Asherman Síndrome de Asherman hrdo:pat_id_16709 10066333 neant E34.3 137693 C1740819 Nanismo a eziologia sconosciuta Petite taille d'étiologie inconnue Short stature of unknown aetiology Baixa estatura idiopática Estatura baja idiopática Idiopathic short stature Kleinwuchs, idiopathischer Nanismo idiopatico Petite taille idiopathique hrdo:pat_id_16710 137698 particular clinical situation in a disease or syndrome 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 CMV disease in patients with impaired cell mediated immunity deemed at risk Infection à CMV chez des patients à risque avec une immunodépression cellulaire Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk Enfermedad por citomegalovirus (CMV) en pacientes de riesgo por inmunidad celular alterada. Infection à cytomégalovirus chez des patients à risque avec une immunodépression cellulaire Infeção por citomegalovirus (CMV) em doentes de risco com imunidade celular diminuída Malattia da citomegalovirus (CMV) in pazienti a rischio per immunodepressione cellulare Zytomegalievirus-Infektion bei Risiko-Patienten mit eingeschränkter Zell-vermittelter Immunität hrdo:pat_id_16711 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 609924 neant 137754 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ACY1D ACY1D ACY1D ACY1D ACY1D Deficit di N-acil-L-aminoacido-amidoidrolasi Déficit de N-acil-L-aminoácido amidohidrolasa Déficit en N-acyl-L-amino acide amidohydrolase N-Acyl-L-Aminosäure Amidohydrolase-Mangel N-acyl-L-amino acid amidohydrolase deficiency Afección neurológica asociada al déficit de aminoacilasa Affection neurologique associée à un déficit en aminoacylase 1 Encefalopatia associada a deficiência de aminoacilase 1 Enzephalopathie mit assoziiertem Aminoacylase 1-Mangel Neurological conditions associated with aminoacylase 1 deficiency Neuropatie da deficit di aminoacilasi 1 hrdo:pat_id_16715 607598 neant Q68.8 137776 malformation syndrome LCCS2 LCCS2 LCCS2 Multiple contracture syndrome, Israeli-Bedouin type Sindrome da contratture multiple, tipo Istraeliano-Beduino Syndrom der multiplen Kontrakturen Typ Israeli-Bedouin Syndrome des contractures congénitales létales type Israeli-Bedouin Síndrome de contractura múltiple tipo Israeli-Bedouin Lethal congenital contracture syndrome type 2 Sindrome da contratture congenite letali, tipo 2 Syndrom der letalen Kontrakturen Typ 2 Syndrome des contractures congénitales létales type 2 Síndrome de contractura letal congénita tipo 2 Síndrome de contratura letal congénita, tipo 2 hrdo:pat_id_16716 611369 614915 neant Q68.8 137783 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome LCCS3 LCCS3 LCCS3 Lethal congenital contracture syndrome type 3 Sindrome da contratture congenite letali, tipo 3 Syndrom der letalen Kontrakturen Typ 3 Syndrome des contractures congénitales létales type 3 Síndrome de contractura letal congénita tipo 3 Síndrome de contratura letal congénita, tipo 3 hrdo:pat_id_16718 10011659 neant E85.4+ L99.0* 137807 201337008 282834007 C0268397 group of phenomes PLCA PLCA Primary localized cutaneous amyloidosis Amiloidose cutânea Amiloidosi cutanea Amiloidosis cutánea Amyloidose, kutane Amylose cutanée primitive Primary cutaneous amyloidosis hrdo:pat_id_16719 10056953 neant E85.4+ L99.0* 137810 C0546394 disease Amiloidosi nodulare cutanea localizzata primitiva Amiloidosis nodular primaria cutánea localizada Amylose cutanée nodulaire primitive localisée NPLCA PLCNA PLCNA PLCNA PLCNA PLCNA Primary localized cutaneous nodular amyloidosis Primär lokal lokalisierte kutane noduläre Amyloidose Amiloidose cutânea, forma nodular Amiloidosi cutanea nodulare Amiloidosis cutánea nodular Amyloidose, kutane, noduläre Form Amylose cutanée nodulaire Nodular cutaneous amyloidosis hrdo:pat_id_16720 neant E85.4+ L99.0* 137814 disease Amiloidose macular Amiloidosi maculare Amiloidosis macular Amyloidose, makuläre Amylose maculeuse Macular amyloidosis hrdo:pat_id_16721 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 182950 D001100 10003074 neant 137817 8217007 C0003708 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Adhesive arachnoiditis Arachnoiditis, adhäsive Arachnoiditis, chronische Arachnoïdite adhésive Arachnoïdite chronique Aracnoidite adesiva Aracnoidite cronica Aracnoiditis adhesiva Aracnoiditis crónica Chronic arachnoiditis Arachnoiditis Arachnoiditis Arachnoïdite Aracnoidite Aracnoidite adesiva Aracnoiditis hrdo:pat_id_16722 neant N80 137820 disease Endometriose, forma rara Endometriose, seltene Form Endometriosi rara Endometriosis rara Endométriose rare Rare endometriosis hrdo:pat_id_16724 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300486 neant 137831 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 OPHN1 syndrome Oligophrenin-1 syndrome Syndrome OPHN1 Syndrome oligonephrin-1 Atraso mental ligado ao X - hipoplasia cerebelosa Déficit intelectual ligado al X - hipoplasia cerebelar Déficit intellectuel lié à l'X - hypoplasie cérébelleuse Geistige Retardierung, X-chromosomale - zerebelläre Hypoplasie Ritardo mentale legato all'X - ipoplasia cerebellare X-linked intellectual deficit - cerebellar hypoplasia hrdo:pat_id_16725 249420 neant 137834 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome di Ter Haar Syndrome de Ter Haar Síndrome de Ter Haar Ter Haar syndrome Frank-Ter Haar syndrome Frank-ter Haar-Syndrom Sindrome di Frank-Ter Haar Syndrome de Frank-Ter Haar Síndrome de Frank-Ter Haar Síndrome de Frank-Ter Haar hrdo:pat_id_16726 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável D057831 10065552 137839 C0343525 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Flebite settica della vena giugulare interna Flebitis séptica de la vena yugular interna Postangina-Sepsis Lemierre Postanginal sepsis secondary to orophyngeal infection Postanginale Sepsis nach oropharyngealer Infektion Sepsi postanginale di Lemierre Sepsi postanginale secondaria a infezioni orofaringee Sepsis post-angine de Lemierre Sepsis post-angine secondaire à une infection oropharyngée Sepsis postangina secundaria a infección orofaríngea Sepsis postanginal de Lemierre Sepsis postanginal of Lemierre Sepsis postanginal secundaria a una infección orofaríngea Septic phlebitis of the internal jugular vein Septische Phlebitis der internen Jugularvene Thrombophlébite septique de la veine jugulaire interne Lemierre syndrome Lemierre-Syndrom Sindrome di Lemierre Syndrome de Lemierre Síndrome de Lemierre Síndrome de Lemierre hrdo:pat_id_1673 neant Q87.5 1506 malformation syndrome Sharma-Kapoor-Ramji syndrome Sharma-Kapoor-Ramji, síndrome de Sharma-Kapoor-Ramji-Syndrom Sindrome di Sharma-Kapoor-Ramji Syndrome de Sharma-Kapoor-Ramji Síndrome de Sharma-Kapoor-Ramji Síndrome de Sharma-Kapoor-Ramji Coste sottili - dismorfismi - ossa tubulari Costelas finas - ossos tubulares - dismorfias Costillas finas - dismorfia - huesos tubulares Côtes fines - os tubulaires fins - dysmorphie Rippen, dünne - tubuläre Knochen - Dysmorphien Thin ribs - tubular bones - dysmorphism hrdo:pat_id_16731 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant 137862 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atresia biliare extraepatica e duodenale - ipoplasia del pancreas - malrotazione intestinale Atrésie biliaire duodénale et extrahépatique - hypoplasie du pancréas - malrotation intestinale Duodenal and extrahepatic biliary atresia - hypoplastic pancreas - intestinal malrotation Duodenale und extrahepatische Gallengangatresie - hypoplastisches Pankreas - intestinale Malrotation Martinez-Frias syndrome Martinez-Frias-Syndrom Sindrome di Martinez-Frias Syndrome de Martinez-Frias Síndrome de Martinez-Frias Síndrome de Martínez-Frías hrdo:pat_id_16732 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 137867 230255008 C0393551 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 MMND MMND MMND Doença do neurónio motor de Madras Enfermedad de las neuronas motoras de Madras Madras motor neuron disease Maladie du motoneurone type Madras Malattia dei motoneuroni di Madras Motoneuron-Krankheit Madras hrdo:pat_id_16733 neant E13 E78.4 137871 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Laminopathie avec un syndrome métabolique sévère et une myopathie Laminopathie mit schwerem metabolischen Syndrom und Myopathie Laminopathy with severe metabolic syndrome and myopathy Laminopatia associata a sindrome/miopatia metabolica grave Laminopatia com síndrome metabólico grave e miopatia Laminopatía con síndrome metabólico grave y miopatía Laminopathie Typ Decaudain-Vigouroux Laminopathie type Decaudain-Vigouroux Laminopathy type Decaudain-Vigouroux Laminopatia, tipo Decaudain-Vigouroux Laminopatia, tipo Decaudain-Vigouroux Laminopatía tipo Decaudain-Vigouroux hrdo:pat_id_16737 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 602483 614669 C538270 neant Q75.8 137888 C1865295 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 'Fragezeichenohr'-Syndrom Question mark ear syndrome Sindrome delle orecchie a forma di "punto interrogativo" Syndrome des oreilles en forme de point d'interrogation Síndrome de la oreja en punto de interrogación Síndrome de orejas en signo de interrogación Auriculo-condylar syndrome Aurikulo-kondyläres Syndrom Sindrome auricolocondilare Syndrome auriculo-condylaire Síndrome Auriculo-condilar Síndrome aurículo-condilar hrdo:pat_id_16738 243060 neant 137893 disease Infertilidad masculina asociada a espermatozoides poliploides multiflagelados con grandes cabezas Infertilidade masculina associada com espermatozóides poliplóides multiflagelados e de cabeça grande Infertilité masculine associée à des spermatozoïdes à tête large, polyploide, multiflagéllaire Male infertility associated with large-headed multiflagellar polyploid spermatozoa Männliche Infertilität durch großköpfige multiflagelläre poloploide Spermatozoen Sterilità maschile associata a spermatozoi poliploidi multiflagellati a testa grande hrdo:pat_id_16739 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 611105 neant E75.2 137898 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 LBSL LBSL Leucoencefalopatia com envolvimento do tronco cerebral e medula - lactato aumentado Leucoencefalopatia con coinvolgimento del tronco cerebrale e del midollo spinale - livelli elevati di lattato Leucoencefalopatía asociada al tronco del encéfalo y a la médula espinal - elevación del lactato Leucoencéphalopathie avec atteinte du tronc cérébral et de la moëlle épinière - lactate élevé Leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation Leukoenzephalopathie mit Hirnstamm- und Rückenmarkbeteiligung - Laktaterhöhung hrdo:pat_id_1674 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 268310 C535863 neant Q87.1 1507 C1849334 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anomalie de segmentation costovertébrale - mésomélie COVESDEM syndrome COVESDEM-Syndrom Costovertebral segmentation defect - mesomelia Defecto de la segmentación costovertebral - mesomelia Defeito de segmentação costo-vertebral - mesomelia Difetto della segmentazione costovertebrale - mesomelia RRS RRS RRS RRS RRS Robinow forma recessiva , síndrome de Sindrome COVESDEM Syndrome COVESDEM Síndrome COVESDEM Síndrome de Robinow, forma recessiva Autosomal recessive Robinow syndrome Robinow-Syndrom, autosomal-rezessives Sindrome di Robinow autosomica recessiva Syndrome Robinow autosomique récessif Síndrome COVESDEM Síndrome de Robinow autosómico recesivo hrdo:pat_id_16740 165550 neant H47.0 137902 disease Hipoplasia del nervio óptico, aislada Hipoplasia do nervo ótico, isolada Hypoplasie isolée du nerf optique Ipoplasia isolata del nervo ottico Isolated optic nerve hypoplasia Sehnerv-Hypoplasie, isolierte hrdo:pat_id_16741 137905 group of phenomes Hipoplasia do nervo ótico, sindrómica Hipoplasia sindrómica del nervio óptico Hypoplasie syndromique du nerf optique Ipoplasia sindromica del nervo ottico Sehnerv-Hypoplasie, syndromale Syndromic optic nerve hypoplasia hrdo:pat_id_16742 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 611719 neant 137908 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 COXPD5 COXPD5 COXPD5 COXPD5 Combined oxidative phosphorylation defect type 5 Deficit combinato della fosforilazione ossidativa, tipo 5 Déficit combiné de la phosphorylation oxydative type 5 Fosforilación oxidativa de tipo 5 combinada Hipotonia com acidemia láctica e hiperamonemia Hipotonia con acidemia láctica e hiperamonemia Hypotonia with lactic acidemia and hyperammonemia Hypotonie - Laktatazidose - Hyperammonämie Hypotonie avec acidose lactique et hyperammonémie Ipotonia con acidemia lattica e iperammoniemia hrdo:pat_id_16743 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 137911 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Autism - facial port-wine stain Autisme - angiome facial Autismo - angioma facciale color ''vino Porto'' Autismo - mancha facial cor vinho do porto Autismo, mancha en vino de Oporto Autismus - fazialer Portwein-Nävus hrdo:pat_id_16744 608911 D002754 10008587 neant Q30.0 137914 204508009 C0008297 morphological anomaly 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Atresia coanale Atresia das coanas Atresia de coanas Atrésie choanale Choanal atresia Choanalatresie hrdo:pat_id_16745 neant Q30.0 137917 clinical subtype Atresia coanale unilaterale Atresia das coanas, unilateral Atresia de coanas, unilateral Atrésie choanale unilatérale Choanalatresie, unilaterale Unilateral choanal atresia hrdo:pat_id_16746 neant Q30.0 137920 clinical subtype Atresia coanale bilaterale Atresia das coanas, bilateral Atresia de coanas, bilateral Atrésie choanale bilatérale Bilateral choanal atresia Choanalatresie, bilaterale hrdo:pat_id_16747 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant D18.1 137923 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Cervicofacial lymphatic malformation Linfangioma cervico-facciale Linfangioma cervicofacial Linfangioma, cervicofacial Lymphangiom, zervikofaziales Malformation lymphatique cervico-faciale hrdo:pat_id_16748 137926 malformation syndrome Linfangioma primario de laringe Linfangioma primario della laringe Linfangioma, laringeo, primário Lymphangiom, laryngeales, primäres Lymphangiome laryngé primaire Primary laryngeal lymphangioma hrdo:pat_id_16749 137929 disease Anomalie fonctionnelle du tronc cérébral néonatale Disfunción neonatal del tronco del encéfalo Disfunzione del tronco cerebrale associata a sequenza di Pierre-Robin, tipo neonatale Disfunção do tronco cerebral, neonatal Hirnstamm-Dysfunktion, neonatale Neonatal brainstem dysfunction hrdo:pat_id_1675 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 122780 Q87.1 1508 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Coxo-aurikuläres Syndrom Coxoauricular syndrome Sindrome coxoauricolare Syndrome coxo-auriculaire Síndrome coxo-auricular Síndrome coxo-auricular hrdo:pat_id_16750 neant J38.0 137932 malformation syndrome Congenital vocal cord paralysis Paralysie congénitale des cordes vocales Parálisis congénita de cuerdas vocales Parálisis congénita de las cuerdas bucales Congenital laryngeal palsy Paralisi laringea congenita Paralisia laríngea, congénita Paralysie laryngée congénitale Parálisis congénita de la laringe Stimmbandlähmung, kongenitale hrdo:pat_id_16751 neant D18.0 137935 disease Angiom, laryngotracheales Angioma laringotracheale Angioma laringotraqueal Angioma laringotraqueal Angiome laryngotrachéal Laryngotracheal angioma hrdo:pat_id_16759 138041 group of phenomes Pierre Robin sequence associated with collagen disease Pierre Robin-Syndrom - Kollagen-Störung Secuencia de Pierre Robin asociada con enfermedad del colágeno Sequenza di Pierre Robin associata a malattie del collagene Séquence de Pierre Robin associée à une collagénopathie Pierre Robin syndrome associated with collagen disease Pierre-Robin-Sequenz mit assoziierter Kollagen-Störung Sequência de Pierre Robin associada a doença do colagénio Sindrome di Pierre Robin associata a malattia del collagene Syndrome de Pierre Robin associée à une collagénopathie Síndrome de Pierre Robin asociado con enfermedad del colágeno hrdo:pat_id_1676 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 147891 Q74.1 1509 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Coxo-podo-patellares Syndrom Dysplasie ischio-patellaire Dysplasie, ischiopatellare Ischiopatellar dysplasia Rótula pequena, síndrome da SPS SPS Scott-Taor syndrome Scott-Taor-Syndrom Small patella syndrome Syndrome de Scott-Taor Syndrome de la petite rotule Síndrome coxo-podo-patelar Síndrome da rótula pequena Síndrome de Scott-Taor Coxo-podo-patellar syndrome Displasia isquio-rotuliano Sindrome coxo-podo-patellare Sindrome rótula-parva Small-Patella-Syndrom Syndrome coxo-podo-patellaire hrdo:pat_id_16760 138044 group of phenomes Pierre-Robin-Syndrom, syndromales Pierre-Robin-Sequenz, syndromale Secuencia de Pierre Robin sindrómica Sequenza sindromica di Pierre Robin Sequência de Pierre Robin, sindrómica Syndromic Pierre Robin sequence Séquence de Pierre Robin syndromique hrdo:pat_id_16761 138047 group of phenomes Pierre Robin sequence associated with a chromosomal anomaly Pierre-Robin-Syndrom - Chromosomenanomalie Secuencia de Pierre Robin asociada con anomalía cromosómica Sequenza di Pierre Robin associata a una anomalia cromosomica Séquence de Pierre Robin associée à une anomalie chromosomique Pierre Robin syndrome associated with a chromosomal anomaly Pierre-Robin-Sequenz mit assoziierter Chromosomenstörung Sequência de Pierre Robin associada a anomalia cromossómica Sindrome di Pierre Robin associata a una anomalia cromosomica Syndrome de Pierre Robin associée à une anomalie chromosomique Síndrome de Pierre Robin asociado con anomalía cromosómica hrdo:pat_id_16762 138050 group of phenomes Pierre Robin sequence associated with branchial archs anomalies Pierre-Robin-Syndrom - Kiemenbogendefekt Secuencia de Pierre Robin asociada con anomalías de los arcos branquiales Sequenza di Pierre Robin associata a anomalie degli archi branchiali Séquence de Pierre Robin associée à une anomalie des arcs branchiaux Pierre Robin syndrome associated with branchial archs anomalies Pierre-Robin-Sequenz mit assoziierter Kiemenbogen-Fehlbildung Sequência de Pierre Robin associada a anomalia dos arcos branquiais Sindrome di Pierre Robin associata a anomalie degli archi branchiali Syndrome de Pierre Robin associée à une anomalie des arcs branchiaux Síndrome de Pierre Robin asociado con anomalías de los arcos branquiales hrdo:pat_id_16763 138055 group of phenomes Pierre Robin sequence associated with bone disease Pierre-Robin-Syndrom - Knochendefekt Secuencia de Pierre Robin asociada con enfermedad ósea Sequenza di Pierre Robin associata a malattia ossea Séquence de Pierre Robin associée à une maladie osseuse Pierre Robin syndrome associated with bone disease Pierre-Robin-Sequenz mit assoziierter Knochenkrankheit Sequência de Pierre Robin associada a doença óssea Sindrome di Pierre Robin associata a malattia ossea Syndrome de Pierre Robin associée à une maladie osseuse Síndrome de Pierre Robin asociado con enfermedad ósea hrdo:pat_id_16764 138059 group of phenomes Pierre-Robin-Syndrom durch teratogene Substanzen Secuencia de Pierre Robin teratogénica Sequenza teratogenica di Pierre Robin Séquence de Pierre Robin d'origine tératogène Teratogenic Pierre Robin sequence Pierre-Robin-Sequenz, teratogene Sequência de Pierre Robin teratogénica Sindrome teratogenica di Pierre Robin Syndrome de Pierre Robin d'origine tératogène Síndrome de Pierre Robin teratogénico Teratogenic Pierre Robin syndrome hrdo:pat_id_16765 138063 group of phenomes Sindrome associata alla sequenza di Pierre Robin Syndrom in Assoziation mit Pierre-Robin-Syndrom Syndrome associated with Pierre Robin sequence Syndrome associé à une séquence de Pierre Robin Síndrome asociado con la secuencia de Pierre Robin Sindrome associata alla sindrome di Pierre Robin Syndrom mit assoziierter Pierre-Robin-Sequenz Syndrome associated with Pierre Robin syndrome Syndrome associé à un syndrome de Pierre Robin Síndrome asociado con el síndrome de Pierre Robin Síndrome associado a sequência de Pierre Robin hrdo:pat_id_16766 138066 group of phenomes Pierre Robin sequence associated with miscellaneous anomalies Pierre-Robin-Syndrom in Assoziation mit gemischen Anomalien Secuencia de Pierre Robin asociada con anomalías misceláneas Sequenza di Pierre Robin associata a anomalie miscellanee Séquence de Pierre Robin associée à des anomalies diverses Pierre Robin syndrome associated with miscellaneous anomalies Pierre-Robin-Sequenz mit assoziierter gemischer Anomalie Sequência de Pierre Robin associada a anomalias variadas Sindrome di Pierre Robin associata a anomalie miscellanee Syndrome de Pierre Robin associée à des anomalies diverses Síndrome de Pierre Robin asociado con anomalías misceláneas hrdo:pat_id_16767 138069 group of phenomes Desorden para succionar/tragar no relacionado con la secuencia de Pierre Robin Disturbo dell'allattamento/deglutizione non associato alla sequenza di Pierre Robin Sucking/swallowing disorder not related with Pierre Robin sequence Trouble de la succion/déglutition non associé à une séquence de Pierre Robin Alterações da sucção/deglutição não relacionadas com sequência de Pierre Robin Desorden para succionar/tragar no relacionado con el síndrome de Pierre Robin Disturbo dell'allattamento/deglutizione non associato alla sindrome di Pierre Robin Saug-/Schluckstörung (nicht zurückzuführen auf Pierre Robin-Sequenz) Sucking/swallowing disorder not related with Pierre Robin syndrome Trouble de la succion/déglutition non associé à un syndrome de Pierre Robin hrdo:pat_id_16768 138072 group of phenomes Alterações da sucção/deglutição associadas a síndrome identificável Desorden para succionar/tragar asociado con un síndrome identificado Disturbo dell'allattamento/deglutizione associato a sindrome identificata Saug-/Schluckstörung in Assoziation mit einem identifizierten Syndrom Sucking/swallowing disorder associated with an identified syndrome Trouble de la succion/déglutition associé à un syndrome identifié hrdo:pat_id_16769 138076 group of phenomes Alterações da sucção/deglutição associadas a anomalia cromossómica Desorden para succionar/tragar asociado a una anomalía cromosómica Disturbo dell'allattamento/deglutizione associato ad anomalia cromosomica Saug-/Schluckstörung mit assoziierter Chromosomenstörung Sucking/swallowing disorder associated to a chromosomal anomaly Trouble de la succion/déglutition associé à une anomalie chromosomique hrdo:pat_id_16770 138080 group of phenomes Desorden para succionar/tragar, sindrómico, sin síndrome identificado Disturbo dell'allattamento/deglutizione associato a sindrome non identificata Doença sindrómica de sucção/deglutição sem síndrome identificável Saug-/Schluckstörung in Assoziation mit einem unbekannten Syndrom Syndromic sucking/swallowing disorder with unidentifyed syndrome Trouble de la succion/déglutition syndromique sans syndrome identifié hrdo:pat_id_16771 138084 group of phenomes Alteración para la succión/deglución asociado a malformación cervical o esofágica Alterações da sucção/deglutição associadas a malformação ORL ou esofágica Disturbo dell'allattamento/deglutizione associato a malformazione esofagea o cervico-facciale Saug-/Schluckstörung mit assoziierter HNO- oder oesophagealer Fehlbildung Sucking/swallowing disorder associated to cervicofacial or esophageal malformation Trouble de la succion/déglutition associé à une malformation cervico-faciale ou oesophagienne hrdo:pat_id_16772 138095 group of phenomes Alterações da sucção/deglutição associadas a anomalias neurológicas Desorden para succionar/tragar asociado a anomalías neurológicas Disturbo del'allattamento/deglutizione associato a anomalie neurologiche Saug-/Schluckstörung mit assoziierten neurologischen Anomalien Sucking/swallowing disorder associated with neurologic anomalies Trouble de la succion/déglutition associé à des anomalies neurologiques hrdo:pat_id_16773 138101 group of phenomes Alterações da sucção/deglutição associadas a anomalias suprabulbares Desorden para succionar/tragar asociado a anomalías suprabulbares Disturbo dell'allattamento/deglutizione associato a anomalie soprabulbari Saug-/Schluckstörung mit assoziierten suprabulbären Anomalien Sucking/swallowing disorder associated with suprabulbar anomalies Trouble de la succion/déglutition associé à des anomalies suprabulbaires hrdo:pat_id_16774 138104 group of phenomes Alterações da sucção/deglutição associada a anomalias dos gânglios basais Desorden para succionar/tragar asociado a anomalías de los ganglios basales Disturbo dell'allattamento/deglutizione associato a anomalie dei gangli basali Saug-/Schluckstörung mit assoziierten Basalganglien-Anomalien Sucking/swallowing disorder associated with basal ganglia anomalies Trouble de la succion/déglutition associé à des anomalies des noyaux de la base hrdo:pat_id_16775 138109 group of phenomes Alterações da sucção/deglutição associada a anomalias da fossa posterior Desorden para succionar/tragar asociado a anomalías de la fosa posterior Disturbo dell'allattamento/deglutizione associato a anomalie della fossa posteriore Saug-/Schluckstörung mit assoziierten Anomalien der hinteren Schädelgrube Sucking/swallowing disorder associated with posterior fossa anomalies Trouble de la succion/déglutition associé à des anomalies de la fosse postérieure hrdo:pat_id_16776 138112 group of phenomes Alterações da sucção/deglutição associada a anomalias cerebelosas Desorden para succionar/tragar asociado a anomalías cerebelares Disturbo dell'allattamento/deglutizione associato a anomalie cerebellari Saug-/Schluckstörung mit assoziierten zerebellären Anomalien Sucking/swallowing disorder associated with cerebellar anomalies Trouble de la succion/déglutition associé à des anomalies du cervelet hrdo:pat_id_16777 138115 group of phenomes Alterações da sucção/deglutição associada a doença neuromuscular Desorden para succionar/tragar asociado a una enfermedad neuromuscular Disturbo dell'allattamento/deglutizione associato a malattia neuromuscolare Saug-/Schluckstörung mit assoziierter neuromuskulärer Krankheit Sucking/swallowing disorder associated with a neuromuscular disease Trouble de la succion/déglutition associé à une maladie neuromusculaire hrdo:pat_id_16778 138118 group of phenomes Acquired alimentary behavior disorder of infancy Desórdenes en el comportamiento alimentario en la infancia, adquirido Disturbi alimentari comportamentali acquisiti dell'infanzia Doença adquirida do comportamento alimentar da infância Erworbene Störung des kindlichen Ernährungsverhaltens Trouble du comportement alimentaire acquis du nourrisson hrdo:pat_id_16780 138221 group of phenomes Alterações da sucção/deglutição Desorden para succionar/tragar Disturbo dell'allattamento/deglutizione Saug-/Schluckstörung Sucking/swallowing disorder Trouble de la succion/déglutition hrdo:pat_id_1679 218090 C536452 neant Q87.5 1512 C1857532 malformation syndrome Crane-Heise syndrome Crane-Heise-Syndrom Sindrome di Crane-Heise Syndrome Crane-Heise Síndrome de Crane Heise Síndrome de Crane-Heise hrdo:pat_id_168 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 311250 D020163 10052450 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=ornithine+carbamoyltransferase+deficiency+disease%5Bmh%5D+OR+Ornithine+carbamoyltransferase+deficiency%5Bti%5D E72.2 664 80908008 C0268542 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Deficit di OCT Deficit di OTC Deficit di ornitina carbamoiltransferasi Deficiência de OCT Déficit de OCT Déficit de OTC Déficit de ornitina carbamil transferasa Déficit en OCT Déficit en OTC Déficit en ornithine carbamyl transférase OCT deficiency OCT, deficiência de OCT-Mangel OTC deficency Ornithine carbamoyltransferase deficiency Ornithine-Carbamoyltransferase-Mangel Deficit di ornitina transcarbamilasi Deficiência de ornitina carbamoiltransferase Déficit de ornitina transcarbamilasa Déficit en ornithine transcarbamylase Ornithin-Transcarbamylase-Mangel Ornithine transcarbamylase deficiency hrdo:pat_id_1680 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 122860 218300 neant M85.2 1513 205506004 C0410539 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Craniodiaphyseal dysplasia Displasia craneodiafisaria Displasia cranio-diafisária Displasia craniodiafisaria Dysplasie cranio-diaphysaire Dysplasie, kraniodiaphysäre hrdo:pat_id_1681 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 312860 neant Q87.0 1514 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Scott craniodigital syndrome Scott-Bryant-Graham syndrome Scott-Bryant-Graham, síndrome de Sindrome di Scott-Bryant-Graham Syndrome craniodigital de Scott Syndrome de Scott-Bryant-Graham Síndrome de Scott-Bryant-Graham Anomalías cráneo-digitales - déficit intelectual Craniodigital syndrome - intellectual deficit Kraniodigitales Syndrom - Intelligenzminderung Sindrome craniodigitale - ritardo mentale Syndrome cranio-digital - déficit intellectuel Síndrome cranio-digital - atraso mental hrdo:pat_id_1682 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 218330 613610 614099 614378 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Sensenbrenner%5B1au%5D+hair%2Fab)+OR+cranioectodermal+dysplasia%5Bti%5D+OR+Sensenbrenner*%5Btw%5D+syndrome Q87.5 1515 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CED CED CED CED CED Levin, síndrome de Sensenbrenner syndrome Sensenbrenner, síndrome de Sensenbrenner-Syndrom Sindrome di Sensenbrenner Syndrome de Sensenbrenner Síndrome de Levin Síndrome de Sensenbrenner Síndrome de Sensenbrenner Cranioectodermal dysplasia Displasia cranio-ectodérmica Displasia cranioectodermica Displasia cráneo-ectodérmica Dysplasie cranio-ectodermique Dysplasie, kranioektodermale hrdo:pat_id_1683 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 218350 C536455 neant Q75.0 1516 C1857511 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Craniofacial dyssynostosis Disinostosis craneofacial Dissinostose cranio-facial Dissinostosi craniofacciale Dyssynostose cranio-faciale Dyssynostose, kraniofaziale hrdo:pat_id_1684 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 239850 neant Q82.8 1517 239087008 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cantu-Sanchez-Corona-Hernandes, síndrome de Craniofaciocardioskeletal syndrome Kranio-fazio-kardio-skeletales-Syndrom Sindrome cranio-facio-cardio-scheletrica Syndrome cranio-facio-cardio-squelettique Síndrome de Cantu-Sanchez-Corona-Hernandes Síndrome de Cantu-Sanchez-Corona-Hernandes Cantu syndrome Cantu-Syndrom Sindrome di Cantu Syndrome de Cantu Síndrome cranio-facio-cardio-esquelético Síndrome de Cantu hrdo:pat_id_16845 139006 group of phenomes Secuencia o asociación Sequence or association Sequenz oder Assoziation Sequenza o associazione Sequência ou associação Séquence ou association hrdo:pat_id_16846 139009 group of phenomes Dysmorphie-Syndrom metabolischen Ursprungs Malformation syndrome of metabolic origin Sindrome dismorfica di origine metabolica Syndrome malformatif d'origine métabolique Síndrome dismórfico de origem metabólica Síndrome malformativo de origen metabólico hrdo:pat_id_16847 139012 group of phenomes Dysmorphie-Syndrom mit Knochenbeteiligung Malformative syndrome affecting bones Sindrome dismorfica che interessa le ossa Syndrome malformatif avec anomalies osseuses Síndrome dismórfico afectando a los huesos Síndrome dismórfico com envolvimento ósseo hrdo:pat_id_16848 139015 group of phenomes Chondrodysplasie-Syndrom Chondrodysplastic malformation syndrome Condrodisplasia Condrodisplasia Syndrome malformatif chondrodysplasique Síndrome malformativo condrodisplásico hrdo:pat_id_16849 139018 group of phenomes Dysmorphie-Syndrom mit Knochenbeteiligung, nicht-chondrodysplastisch Non-chondrodysplastic malformation syndrome affecting bones Sindrome dismorfica non condrodisplasica con anomalie scheletriche Syndrome malformatif non-chondrodysplasique avec anomalies osseuses Síndrome dismórfico com envolvimento ósseo, não-condrodisplástico Síndrome malformativo que afecta huesos, no condrodisplásico hrdo:pat_id_16850 139021 group of phenomes Dysmorphie-Syndrom mit Kleinwuchs Malformation syndrome with short stature Sindromi dismorfiche con statura bassa Syndrome malformatif avec petite taille Síndrome dismórfico com baixa estatura Síndrome malformativo con baja estatura hrdo:pat_id_16851 139024 group of phenomes Großwuchssyndrom/Adipositas-Syndrom Overgrowth/obesity syndrome Sindrome da iperaccrescimento/obesità Syndrome avec obésité/croissance excessive Síndrome de hipercrecimiento/obesidad Síndrome de sobrecrescimento/obesidade hrdo:pat_id_16852 139027 group of phenomes Dysmorphie-Syndrom mit Haut/Schleimhaut-Beteiligung Malformation syndrome with skin/mucosae involvement Sindrome dismorfica con coinvolgimento cutaneo/delle mucose Syndrome malformatif avec anomalies de la peau ou des muqueuses Síndrome dismórfico com envolvimento da pele ou mucosas Síndrome malformativo con afectación de piel/mucosa hrdo:pat_id_16853 139030 group of phenomes Dysmorphie-Syndrom mit Bindegewebsbeteiligung Malformation syndrome with connective tissue involvement Sindrome dismorfica con coinvolgimento del tessuto connettivo Syndrome malformatif avec anomalies du tissu conjonctif Síndrome dismórfico com envolvimento do tecido conjuntivo Síndrome malformativo con afectación del tejido conectivo hrdo:pat_id_16854 139033 group of phenomes Progeroid syndrome Progeroid-Syndrome Sindrome progeroide Syndrome progeroïde Síndrome progeroide Síndrome progeróide hrdo:pat_id_16855 139036 group of phenomes Branchial arch or oral-acral syndrome Kiemenbogen- oder oroakrales-Syndrom Sindrome dell'arco branchiale o orale-acrale Syndrome des arcs branchiaux ou syndrome oro-acral Síndrome del arco branquial u oral-acro Síndrome dos arcos branquiais ou oral-acrais hrdo:pat_id_16856 139039 group of phenomes Orofacial clefting syndrome Orofaziale Spaltbildung Sindrome della schisi orofacciale Syndrome avec fente oro-faciale Síndrome de fenda orofacial Síndrome de hendidura orofacial hrdo:pat_id_16857 neant K00 139042 group of phenomes Dysmorphie-Syndrom mit odontaler und/oder periodontaler Komponente Malformation syndrome with odontal and/or periodontal component Sindrome dismorfica con componente dentale e/o periodontica Syndrome malformatif avec composante odontique et/ou péri-odontique Síndrome dismórfico com componente dentário e/ou peridodontal Síndrome malformativo con componente odontal y/o peridontal hrdo:pat_id_1686 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 145420 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Brachycephalofrontonasal%5Btw%5D+OR+craniofrontonasal%5Btw%5D+OR+cranio+fronto+nasal%5Btw%5D+OR+hypertelorism+syndrome%5Btw%5D%29+AND+teebi%5Btw%5D Q87.0 1519 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Brachycephalofrontonasal dysplasia Craniofrontonasal dysplasia, Teebi type Displasia brachicefalo-fronto-nasale Displasia braqui-cefalo-fronto-nasal Displasia braquicefalofrontonasal Displasia cranio-fronto-nasale, tipo Teebi Displasia cráneofrontonasal, tipo Teebi Dysplasie brachy-céphalo-fronto-nasale Dysplasie cranio-fronto-nasale type Teebi Dysplasie, brachy-zephalo-fronto-nasale Dysplasie, kranio-fronto-nasale, Typ Teebi Sindrome da ipertelorismo di Teebi Syndrome de Teebi Síndrome de Teebi Síndrome de Teebi Síndrome de hipertelorismo de Teebi Teebi hypertelorism syndrome Teebi syndrome Teebi, síndrome de Teebi-Hypertelorismus-Syndrom Teebi-Syndrom Hipertelorismo, tipo Teebi Hypertelorism, Teebi type Hypertelorismus vom Typ Teebi Hypertélorisme de Teebi Ipertelorismo, tipo Teebi Síndrome cranio-fronto-nasal tipo Teebi hrdo:pat_id_1687 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 304110 C536456 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Craniofrontonasal%5Bti%5D+OR+Cranio+fronto+nasal%5Bti%5D Q87.1 1520 C0220767 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CFND CFND CFND CFND CFNS CFNS CFNS CFNS Craniofrontonasal syndrome DCFN SCFN Sindrome cranio-fronto-nasale Syndrome cranio-fronto-nasale Síndrome craneofrontonasal Craniofrontonasal dysplasia Displasia craneofrontonasal Displasia cranio-fronto-nasal Displasia cranio-fronto-nasale Dysplasie cranio-fronto-nasale Dysplasie, kranio-fronto-nasale hrdo:pat_id_1688 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Cranio+fronto+nasal%5Btw%5D+OR+Craniofrontonasal%5Btw%5D%29+AND+poland%5Btw%5D Q87.8 1521 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome di Webster-Deming Syndrome de Webster-Deming Síndrome de Webster-Deming Síndrome de Webster-Deming Webster-Deming syndrome Webster-Deming, síndrome de Craniofrontonasal dysplasia - Poland anomaly Displasia cranio-fronto-nasal - anomalia de Poland Displasia cranio-fronto-nasale - anomalia di Poland Displasia cráneo-fronto-nasal - anomalía de Poland Dysplasie cranio-fronto-nasale - anomalie de Poland Kranio-fronto-nasale Dysplasie - Poland-Anomalie hrdo:pat_id_16880 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 250800 neant D74.0 139373 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Déficit congénital en NADH-cytochrome b5 réductase type I Déficit de NADH-citocromo-b5-reductasa de tipo 1 Déficit de NADH-diaforasa de tipo 1 Déficit en NADH-diaphorase type I Déficit en ferrihémoglobine-réductase Methämoglobinämie, kongenitale, rezessive, Typ I Méthémoglobinémie congénitale autosomique récessive type 1 NADH Cytochrom b5-Reduktase-Mangel Typ I NADH-Diaphorase-Mangel Typ I NADH-cytochrome b5reductase deficiency type 1 NADH-diaphorase deficiency type 1 Recessive congenital methemoglobinemia type 1 Metahemoglobinemia hereditaria recesiva de tipo 1 Metemoglobinemia ereditaria recessiva, tipo 1 Metemoglobinemia tipo I, congénita, autossómica recessiva Methämoglobinämie, hereditäre, rezessive, Typ I Méthémoglobinémie héréditaire autosomique récessive type 1 Recessive hereditary methemoglobinemia type 1 hrdo:pat_id_16881 Adulte jeune Adultos jóvenes Giovani adulti Jovem adulto Junge Erwachsene Young adult Young adult Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 250800 neant D74.0 139380 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Déficit de NADH-citocromo-b5-reductasa de tipo 2 Déficit en NADH-cytochrome b5réductase type II Déficit en NADH-diaphorase type II Methämoglobinämie, kongenitale, rezessive, Typ II Méthémoglobinémie congénitale autosomique récessive type 2 NADH Cytochrom b5-Reduktase-Mangel Typ II NADH-Diaphorase-Mangel Typ II NADH-cytochrome b5reductase deficiency type 2 NADH-diaphorase deficiency type 2 Recessive congenital methemoglobinemia type 2 Metahemoglobinemia hereditaria recesiva de tipo 2 Metemoglobinemia ereditaria recessiva, tipo 2 Metemoglobinemia tipo II, congénita, autossómica recessiva Methämoglobinämie, hereditäre, rezessive, Typ II Méthémoglobinémie héréditaire autosomique récessive type 2 Recessive hereditary methemoglobinemia type 2 hrdo:pat_id_16882 neant Q75.0 139390 group of phenomes Craneosionostosis aislada Craniosinostosi isolata Craniossinostose isolada Craniosynostose isoléee Isolated craniosynostosis Kraniosynostose, isolierte hrdo:pat_id_16883 600593 606529 neant 139393 group of phenomes Craneosionostosis sindrómica Craniosinostosi sindromica Craniossinostose sindrómica Craniosynostose syndromique Kraniosynostose, syndromale Syndromic craniosynostosis hrdo:pat_id_16884 Variabel Variabile Variable Variable Variable Variable Variável 300100 neant E71.3 139396 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Adrenoleucodistrofia legata all'X, forma cerebrale Adrenoleucodistrofia ligada al cromosoma X, forma cerebral Adrenoleucodistrofia, ligada ao X, forma cerebral Adrenoleukodystrophie, X-chromosomale, zerebrale Form Adrénoleucodystrophie liée à l'X, forme cérébrale X-linked cerebral adrenoleukodystrophy hrdo:pat_id_16885 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 300100 neant E71.3 139399 C1527231 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive clinical subtype AMN Adrenomieloneuropatia Adrenomieloneuropatia Adrenomieloneuropatía Adrenomyeloneuropathie Adrenomyeloneuropathy Adrénomyéloneuropathie hrdo:pat_id_16886 Variabel Variabile Variable Variable Variable Variable Variável 139402 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Arzneimittelexanthem mit Eosinophilie und systemischen Manifestationen DRESS syndrome Drug reaction eosinophilic systemic syndrome Erupción por medicamentos con eosinofilia y síntomas sistémicos Hypersensibilité médicamenteuse avec éosinophiles et manifestations systémiques Sindrome DRESS Sindrome sistemica eosinofilica da reazione farmacologica Syndrome DRESS Síndrome DRESS Síndrome eosinofílico sistémico por reacciones a medicamentos Arzneimittelexanthem mit Eosinophilie und systemischen Manifestationen Drug rash with eosinophilia and systemic symptoms Erupción con eosinofilia y síntomas sistémicos causada por medicamentos Eruption cutanée avec éosinophilie et symptômes systémiques Sindrome DRESS Síndrome DRESS hrdo:pat_id_16887 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 611721 neant E75.2 139406 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Combined prosaposin deficiency Deficiencia de prosaposina combinada Deficit combinato di prosaposina Déficit combinado de prosaposina Déficit global en prosaposine Prosaposin-Mangel, kombinierter Encefalopatia da deficit di prosaposina Encefalopatia por deficiência de prosaposina Encefalopatía debida a una deficiencia de prosaposina Encephalopathy due to prosaposin deficiency Encéphalopathie due à un déficit en prosaposine Enzephalopathie durch Prosaposin-Mangel hrdo:pat_id_16888 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 604287 neant D44.8 139411 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Carney triad Carney-Trias (Triade) Triade de Carney Triade di Carney Tríada de Carney Tríade de Carney hrdo:pat_id_16889 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 139414 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Congenital panfollicular nevus Naevus, panfollikulärer, kongenitaler Nevo panfolicular congénito Nevo panfollicolare congenito Nevus panfolicular congénito Nevus panfolliculaire congénital hrdo:pat_id_1689 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 123000 218400 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Craniometaphyseal%5Btw%5D Q78.8 1522 36601008 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CMD CMD CMD CMD Craniometaphyseal dysplasia Displasia craneometafisaria Displasia cranio-metafisária Displasia craniometafisaria Dysplasie cranio-métaphysaire Dysplasie, kranio-metaphysäre hrdo:pat_id_16890 neant G37.3 139417 47000000 C0270627 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Querschnittsmyelitis Acute transverse myelitis Mielite transversa, aguda Mielite trasversa acuta Mielitis transversa aguda Myelitis, akute transverse Myélite transverse aïgue hrdo:pat_id_16891 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável neant G37.3 139420 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch etiological subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Disease-associated transverse myelitis Krankheitsassoziierte transverse Myelitis Mielite transversa, aguda, secundária Mielite trasversa acuta secondaria Mielitis transversa aguda secundaria Myelitis, akute transverse, sekundäre Myélite transverse aïgue secondaire Secondary acute transverse myelitis hrdo:pat_id_16892 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável neant G37.3 139423 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown ATM/TM ATM/TM Idiopathic acute transverse myelitis Mielite transversa, aguda, idiopática Mielite trasversa acuta idiopatica Mielitis transversa aguda idiopática Myelitis, akute transverse, idiopathische Myélite transverse aïgue idiopathique hrdo:pat_id_16893 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 139426 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 POMA POMA POMA POMA Mioclonia perioral com ausências Mioclonia perioral con ausencias Mioclonia periorale con assenze Myoclonie périorale avec absence Perioral myoclonia with absences Periorale Myoklonie mit Absencen hrdo:pat_id_16894 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 139431 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Augenlid-Myoklonie mit und ohne Absencen EMEA EMEA EMEA EMEA EMEA Eyelid myoclonia with and without absences Mioclonia palpebrale con e senza assenze Mioclonía palpebral con o sin ausencias Myoclonie des paupières avec ou sans absence Jeavons syndrome Jeavons-Syndrom Sindrome di Jeavons Syndrome de Jeavons Síndrome de Jeavons Síndrome de Jeavons hrdo:pat_id_16895 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant D76.3 139436 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dermatoarthrite lipoïdique Dermatoartrite lipoide Dermoartritis lipoidea Giant cell histiocytomatosis Hystiocytomatose à cellule géante Lipoid dermatoarthritis Lipoiddermatoarthritis Multicentric reticulohistiocytosis Reticoloistiocitosi multicentrica Reticulohistiocitose multicêntrica Reticulohistiocitosis multicéntrica Retikulohistiozytose, multizentrische Réticulohistiocytose multicentrique hrdo:pat_id_16896 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 612438 neant E75.2 139441 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 H-ABC H-ABC H-ABC H-ABC Hipomielinización con atrofia de los ganglios basales y del cerebelo Hipomielinização com atrofia dos gânglios basais e do cerebelo Hypomyelination with atrophy of basal ganglia and cerebellum Hypomyelinisierung mit Atrophie der Basalganglien und des Kleinhirns Hypomyélination avec atrophie du ganglion basal et du cervelet Ipomielinizzazione con atrofia dei gangli basali e del cervelletto hrdo:pat_id_16897 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant E75.2 139444 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Leucoencefalopatia com quistos bilaterais do lobo temporal anterior Leucoencefalopatia con cisti bilaterali dei lobi temporali anteriori Leucoencefalopatía con quistes anteriores y bilaterales en el lóbulo temporal Leucoencéphalopathie avec kystes bilateraux de la partie antérieure du lobe temporal Leukoencephalopathy with bilateral anterior temporal lobe cysts Leukoenzephalopathie mit beiderseitigen vorderen Temporallappen-Zysten hrdo:pat_id_16898 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant E75.2 139447 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Leucoencefalopatia cavitante progressiva Leucoencefalopatia cavitante, progressiva Leucoencefalopatía cavitada progresiva Leucoencéphalopathie cavitaire progressive Leukoenzephalopathie, kavitierende progressive Progressive cavitating leukoencephalopathy hrdo:pat_id_16899 611863 neant Q15.8 139450 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Balikova-Vermeesch syndrome Sindrome di Balikova-Vermeesch Syndrome de Balikova-Vermeesch Síndrome Balikova-Vermeesch Síndrome de Balikova-Vermeesch Microtia - coloboma - imperforación del conducto nasolacrimal Microtia - coloboma ocular - ducto nasolacrimal imperfurado Microtia - coloboma oculare - imperforazione del dotto nasolacrimale Microtia - eye coloboma - imperforation of the nasolacrimal duct Microtie - colobome oculaire - imperforation du canal lacrymonasal Mikrotie - Augenkolobom - imperforierter nasolakrimaler Gang hrdo:pat_id_169 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 313200 10068600 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Kennedy+disease%5BTw%5D+OR+%22spinal+muscular+atrophy%22%5BText+Word%5D+OR+%22muscular+atrophy%2C+spinal%22%5BMeSH+Terms%5D G12.2 481 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Amiotrofia bulboespinal ligada al X Amiotrofia bulboespinhal, ligada ao X Amiotrofia bulbospinale legata all'X Amyotrophie bulbo-spinale liée à l'X Amyotrophie bulbospinale Amyotrophie spino-bulbaire Amyotrophie, spinobulbäre X-chromosomale Atrofia muscolare bulbospinale Atrofia muscolare spinale e bulbare Atrofia muscular bulbar y espinal Atrofia muscular bulboespinal Atrofia muscular espinhal e bulbar Atrophie musculaire spinale et bulbaire Bulbospinal muscular atrophy Muskelatrophie, spinobulbäre SBMA SBMA SBMA SBMA SBMA SBMA Spinal and bulbar muscular atrophy Spinale und bulbäre Muskelatrophie Spinobulbar muscular atrophy X-linked bulbospinal amyotrophy Doença de Kennedy Enfermedad de Kennedy Kennedy disease Kennedy-Krankheit Maladie de Kennedy Malattia di Kennedy hrdo:pat_id_16900 611809 neant H35.5 139455 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Autosomal recessive bestrophinopathy Bestrofinopatia, autosomatica recessiva Bestrofinopatía, autosómica recesiva Bestrophinopathie autosomique récessive Bestrophinopathie, autosomal-rezessive Retinopathie Typ Burgess-Black Retinopathy, Burgess-Black type Retinopatia, tipo Burgess-Black Retinopatia, tipo Burgess-Black Retinopatía, tipo Burgess-Black Rétinopathie type Burgess-Black hrdo:pat_id_16903 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 611812 neant 139466 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Geschlechtsumkehr - Nieren-, Nebenieren- und Lungendysgenesie Reversione sessuale - disgenesia surrenale, renale e polmonare Reversione sessuale - disgenesia surrenalica, renale e polmonare Reversión sexual - disgenesia adrenal, renal y pulmonar Reversión sexual - disgenesia renal, suprarrenal y pulmonar Réversion sexuelle - dysgénesies rénale, surrénalienne et pulmonaire Sex reversion - kidneys, adrenal and lung dysgenesis SERKAL syndrome SERKAL-Syndrom Sindrome SERKAL Syndrome SERKAL Síndrome SERKAL Síndrome de SERKAL hrdo:pat_id_16904 607932 neant Q11.2 139471 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Bakrania-Ragge syndrome MCOPS6 MCOPS6 MCOPS6 MCOPS6 Microftalmia sindromica, tipo 6 Microftalmía sindrómica tipo 6 Microphtalmie syndromique type 6 Mikrophthalmie, syndromale, Typ 6 Sindrome di Bakrania-Ragge Syndrome de Bakrania-Ragge Syndromic microphthalmia type 6 Síndrome de Bakrania-Ragge Bakrania-Ragge-Syndrom Microftalmia con anomalie cerebrali e delle mani Microftalmía con anomalías cerebrales y de las manos Microphtalmie avec anomalies cérébrales et des mains Microphthalmia with brain and digit anomalies Síndrome de Bakrania-Ragge hrdo:pat_id_16905 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613675 neant Q92.3 139474 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dup(17)(q11.2) Dup(17)(q11.2) Dup(17)(q11.2) Dup(17)(q11.2) Dup(17)(q11.2) Grisart-Destrée syndrome Grisart-Destrée-Syndrom Sindrome di Grisart-Destrée Syndrome de Grisart-Destrée Síndrome Grisart-Destrée Trisomia 17q11.2 Trisomie 17q11.2 Trisomie 17q11.2 Trisomy 17q11.2 Trisomía 17q11.2 17q11.2 microduplication syndrome Mikrodeletionssyndrom 17q11.2 Sindrome da microduplicazione 17q11.2 Syndrome de microduplication 17q11.2 Síndrome de Grisart-Destrée Síndrome de microduplicación 17q11.2 hrdo:pat_id_16906 612379 neant E77.8 139477 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CDG1Q CDG1Q CDG1Q CDG1Q CDG1Q CDGIq Al-Gazali-Dattani syndrome Al-Gazali-Dattani-Syndrom Sindrome di Al-Gazali-Dattani Syndrome d'Al-Gazali-Dattani Síndrome de Al-Gazali-Dattani Síndrome de Al-Gazali-Dattani hrdo:pat_id_16907 612020 neant G11.4 139480 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Paraplegia spastica da mutazione dell'esterasi bersaglio per la neuropatia Paraplegia spastica da mutazione di NTE Paraplégie spastique due à une mutation de l'estérase neurotoxique Paraplégie spastique due à une mutation de la NTE SPG39 SPG39 SPG39 SPG39 Spastic paraplegia due to NTE mutation Spastic paraplegia due to neuropathy target esterase mutation Spastische Paraplegie durch NTE (neuropathy target esterase)-Genmutation Autosomal recessive spastic paraplegia type 39 Paraparésia espástica por mutação na esterase neurotóxica Paraplegia spastica autosomica recessiva, tipo 39 Paraplejía espástica autosómica recesiva tipo 39 Paraplégie spastique autosomique récessive type 39 Spastische Paraplegie, autosomal-rezessive, Typ 39 hrdo:pat_id_16908 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 612016 neant G11.1 139485 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown ARCA2 ARCA2 ARCA2 ARCA2 ARCA2 Atassia autosomica recessiva da deficit del coenzima Q10 Atassia cerebellare recessiva 2 Atassia spinocerebellare autosomica recessiva 9 Ataxia autosómica recesiva por déficit de coenzima Q10 Ataxia cerebelosa recesiva 2 Ataxia espinocerebelosa autosómica recesiva 9 Ataxia por deficiência da coenzima Q(10), autossómica recessiva Ataxie cérébelleuse autosomique récessive-2 Ataxie due à un déficit en coenzyme Q(10) autosomique récessive Ataxie durch Coenzym Q(10)-Mangel Ataxie spinocérébelleuse autosomique récessive-9 Ataxie, autosomal-rezessive, 9 Autosomal recessive ataxia due to coenzyme Q10 deficiency Autosomal recessive spinocerebellar ataxia-9 Recessive cerebellar ataxia-2 SCAR9 SCAR9 SCAR9 SCAR9 SCAR9 Zerebelläre Ataxie, rezessive, 2 Atassia autosomica recessiva da deficit di ubichinone Ataxia autosómica recesiva por déficit de ubiquinona Ataxia por deficiência de ubiquinona, autossómica recessiva Ataxie cérébelleuse due à un déficit en ubiquinone autosomique recessive Ataxie durch Ubiquinon-Mangel, autosomal-rezessive Autosomal recessive ataxia due to ubiquinone deficiency hrdo:pat_id_16909 Variabel Variabile Variable Variable Variable Variable Variável 606069 C537249 neant E83.1 139491 C1853733 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Autosomal dominant hereditary hemochromatosis Emocromatosi da difetto della ferroportina Emocromatosi ereditaria autosomica dominante Enfermedad de la ferroportina Ferroportin disease Ferroportin-Krankheit Hemochromatosis due to defect in ferroportin Hemocromatosis hereditaria autosómica dominante Hämochromatose durch Ferroportin-Defekt Hämochromatose, autosomal-dominante Hämochromatose, hereditäre, autosomal-dominante Hémochormatose héréditaire autosomique dominante Hémochromatose par défaut en ferroportine Maladie ferroportine Malattia da ferroportina Doença da ferroportina Emocromatosi, tipo 4 Hemochromatosis type 4 Hemocromatosis tipo 4 Hämochromatose Typ 4 Hémochromatose type 4 hrdo:pat_id_1691 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 259100 neant M89.4 1525 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Currarino disease Currarino idiopathic osteoarthropathy Enfermedad de Currarino Maladie de Currarino Osteoartropatía idiopática de Currarino Ostéo-arthropathie idiopathique de Currarino Reginato-Schiapachasse syndrome Reginato-Schiapachasse, síndrome de Reginato-Schiapachasse-Syndrom Syndrome de Reginato-Schiapachasse Síndrome de Reginato-Schiapachasse Síndrome de Reginato-Schiapachasse Cranio-osteo-artropatia Cranio-osteoarthropathy Cranio-osteoartropatia Cranio-ostéo-arthropathie Cráneo-osteo-artropatía Kranio-Osteoarthropathie hrdo:pat_id_16910 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 235200 neant E83.1 139498 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 C282Y/C282Y Hämochromatose C282Y/C282Y hemochromatosis Classic hemochromatosis Emocromatosi C282Y/C282Y Emocromatosi classica Emocromatosi legata a HFE HFE-related hemochromatosis Hemocromatosis C282Y/C282Y Hemocromatosis clásica Hemocromatosis relacionada con el HFE Hämochromatose, HFE-Gen-assoziierte Hämochromatose, klassische Hémochromatose C282Y/C282Y Hémochromatose classique Hémochromatose lièe à HFE Emocromatosi, tipo 1 Hemochromatosis type 1 Hemocromatose, forma adulta Hemocromatosis tipo 1 Hämochromatose Typ 1 Hémochromatose type 1 hrdo:pat_id_16911 601195 neant E83.1 139507 disease Bantu siderosis Bantu-Siderose Siderosi dei Bantu Sidérose des Bantous African iron overload Eisenüberladung, afrikanische Form Hémochromatose africaine Sobrecarga de ferro, tipo africano Sobrecarga de hierro, tipo africano Sovraccarico di ferro, tipo Africano hrdo:pat_id_16912 neant G60.0 H90.5 139512 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Neuropathie avec trouble de l'audition Neuropathie mit Schwerhörigkeit Neuropathy with hearing impairment Neuropatia com diminuição da acuidade auditiva Neuropatia con deficit uditivo Neuropatía con discapacidad auditiva hrdo:pat_id_16913 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 611228 neant G60.0 139515 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CMT4J CMT4J CMT4J CMT4J CMT4J Charcot-Marie-Tooth disease type 4J Charcot-Marie-Tooth-Krankheit Typ 4J Doença de Charcot-Marie-Tooth tipo 4J Enfermedad de Charcot-Marie-Tooth de tipo 4J Maladie de Charcot-Marie-Tooth type 4J Malattia di Charcot-Marie-Tooth, tipo 4J hrdo:pat_id_16914 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 182960 neant G12.2 139518 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Atrofia muscular espinal distal juvenil autosómica dominante tipo 1 Atrofia spinale muscolare distale giovanile, autosomica dominante, tipo 1 Atrophie musculaire spinale distale juvénile autosomique dominante type 1 Autosomal dominant distal juvenile spinal muscular atrophy type 1 Distale-HMN 1 HMN-1distale Spinale Muskelatrophie, distale, juvenile, autosomal-dominante, Typ 1 dHMN1 dHMN1 dHMN1 Distal hereditary motor neuropathy type 1 Neuropathie motrice distale héréditaire type 1 Neuropathie, distale hereditäre motorische, Typ 1 Neuropatia motoria distale ereditaria, tipo 1 Neuropatia, motora, distal, hereditária, tipo 1 Neuropatía motora distal hereditaria tipo 1 hrdo:pat_id_16915 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 158590 608634 613376 neant G12.2 139525 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Atrofia muscular espinal distal tipo 2 Atrofia spinale muscolare distale, tipo 2 Atrophie musculaire spinale distale type 2 Distal spinal muscular atrophy type 2 Distale-HMN 2 HMN-2 distale Spinale Muskelatrophie, distale, Typ 2 dHMN2 dHMN2 dHMN2 dSMA2 dSMA2 dSMA2 Distal hereditary motor neuropathy type 2 Neuropathie motrice distale héréditaire type 2 Neuropathie, distale hereditäre motorische, Typ 2 Neuropatia motoria distale ereditaria, tipo 2 Neuropatia, motora, distal, hereditária, tipo 2 Neuropatía motora distal hereditaria tipo 2 hrdo:pat_id_16916 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 600794 614751 neant G12.2 139536 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Amyotrophie spinale distale type 5 Atrofia muscular espinal distal tipo 5 Atrofia spinale muscolare distale, tipo 5 Distal spinal muscular atrophy type 5 Distale-HMN 5 HMN-5 distale Spinale Muskelatrophie, distale, Typ 5 dHMN5 dHMN5 dHMN5 dSMA5 Distal hereditary motor neuropathy type 5 Neuropathie motrice distale héréditaire type 5 Neuropathie, distale hereditäre motorische, Typ 5 Neuropatia motoria distale ereditaria, tipo 5 Neuropatia, motora, distal, hereditária, tipo 5 Neuropatía motora distal hereditaria tipo 5 hrdo:pat_id_16917 Variabel Variabile Variable Variable Variable Variable Variável 607088 neant G12.2 139547 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Amyotrophie spinale distale autosomique récessive type 3 Atrofia muscolare spinale distale autosomica recessiva, tipo 3 Atrofia muscular espinal distal autosómica recesiva tipo 3 Atrophie musculaire spinale distale autosomique récessive type 3 Autosomal recessive distal spinal muscular atrophy type 3 DSMA3 DSMA3 Distal hereditary motor neuropathy type 3 and type 4 Distale-HMN 3 und Distale-HMN 4 HMN-3 distale e HMN-4 distale Muskelatrophie, distale spinale, Typ 3 Neuropathie motrice distale héréditaire types 3 et 4 Neuropathie, distale hereditäre motorische, Typ 3 und Typ 4 Neuropatia motoria ereditaria distale, tipo 3 e 4 Neuropatía motora hereditaria distal tipo 3 y tipo 4 dHMN3 and dHMN4 dHMN3 et dHMN4 dHMN3 y dHMN4 dSMA3 dSMA3 dSMA3 Amyotrophie spinale distale type 3 Atrofia muscolare spinale distale, tipo 3 Atrofia muscular espinal distal tipo 3 Distal spinal muscular atrophy type 3 Neuropatia, motora, distal, hereditária, tipo 3 e tipo 4 Spinale Muskelatrophie, distale, Typ 3 hrdo:pat_id_16918 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 605726 neant G12.2 139552 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Amyotrophie spinale distale autosomique récessive type 2 Atrophie musculaire spinale distale autosomique récessive type 2 Autosomal recessive distal spinal muscular atrophy type 2 Distale-HMN J HMN-J distale dHMNJ dHMNJ dHMNJ Distal hereditary motor neuropathy, Jerash type Neuropathie motrice distale héréditaire type Jerash Neuropathie, distale hereditäre motorische, Typ Jerash Neuropatia motoria distale ereditaria, tipo Jerash Neuropatia, motora, distal, hereditária, tipo Jerash Neuropatía motora distal hereditaria, tipo Jerash hrdo:pat_id_16919 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 300489 neant G12.2 139557 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Distale-HMN, X-chromosomale HMN distale legata all'X Neuropathie motrice distale héréditaire liée à l'X Neuropathie, distale hereditäre motorische, X-chromosomale Neuropatia motoria distale ereditaria legata all'X Neuropatía motora distal hereditaria ligada al X X-linked dHMN X-linked dSMA X-linked distal hereditary motor neuropathy dHMN ligada al X dHMN liée à l'X dSMA ligada al X dSMA liée à l'X Atrofia muscular espinal distal ligada al X Atrofia muscular espinhal, distal, ligada ao X Atrofia spinale muscolare distale legata all'X Atrophie musculaire spinale distale liée à l'X Spinale Muskelatrophie, distale, X-chromosomale X-linked distal spinal muscular atrophy hrdo:pat_id_1692 neant Q87.0 1526 malformation syndrome Acro-cefalo-sinostose Acro-cephalo synostosis Acro-céphalo-synostoses Acrocefalosinostosi Allain-Babin-Demarquez syndrome Allain-Babin-Demarquez, síndrome de Allain-Babin-Demarquez-Syndrom Sindrome di Allain-Babin-Demarquez Syndrome d'Allain-Babin-Demarquez Synostosen, akrozephale Síndrome de Allain-Babin-Demarquez Síndrome de Allain-Babin-Demarquez Craneo sinostosis - sinostosis múltiples - nefropatía Craniosinostosi - sinostosi multiple - nefropatia Craniossinostose - sinostose - nefropatia hipertensiva Craniosynostose - synostoses multiples - néphropathie Craniosynostosis - synostoses - hypertensive nephropathy Kraniosynostose - Synostosen - hypertensive Nephropathie hrdo:pat_id_16920 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 608088 neant G60.8 139564 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 HSAN con tosse e reflusso gastroesofageo HSAN mit Husten und gastro-ösophagealem Reflux HSAN with cough and gastroesophageal reflux HSAN1B HSAN1B HSAN1B Hereditary sensory and autonomic neuropathy type 1 with cough and gastrooesophageal reflux NHSA avec toux et reflux gastrique NHSA1B NSAH con tos y reflujo gastroesofágico NSAH1B Neuropathie héréditaire sensitive et autonome type 1 avec toux et reflux gastrique Neuropatia autonoma e sensoriale ereditaria tipo 1 - tosse - reflusso gastroesofageo Neuropatía sensitiva y autónoma, hereditaria tipo 1, con tos y reflujo gastroesofágico Hereditary sensory and autonomic neuropathy type 1B Neuropathie héréditaire sensitive et autonomique type 1B Neuropathie, sensorische und autonome, hereditäre, Typ 1B Neuropatia autonoma e sensoriale ereditaria, tipo 1B Neuropatia hereditária sensitiva e autonómica, tipo 1B Neuropatía sensitiva y autónoma tipo 1B, hereditaria hrdo:pat_id_16921 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant G60.8 139573 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 HSAN con sordità e ritardo globale HSAN mit Taubheit und allgemeiner Entwicklungsverzögerung HSAN with deafness and global delay NSAH avec surdité et retard de dévelopement NSAH con sordera y retraso global Hereditary sensory and autonomic neuropathy with deafness and global delay Neuropathie sensitive et autonomique héréditaire avec surdité et retard de développement Neuropathie, sensorische und autonome, hereditäre, Taubheit und allgemeiner Entwicklungsverzögerung Neuropatia autonoma e sensoriale ereditaria - sordità - ritardo globale Neuropatia hereditária sensitiva e autonómica, com surdez e atraso global Neuropatía sensitiva y autónoma, hereditaria, con sordera y retraso global hrdo:pat_id_16922 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 256840 neant G60.8 139578 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 HSAN con paraplegia spastica HSAN mit spastischer Paraplegie HSAN with spastic paraplegia NHSA avec paraplégie spastique NSAH con paraplejía espástica Hereditary sensory and autonomic neuropathy with spastic paraplegia Neuropathie sensitive et autonomique héréditaire avec paraplégie spastique Neuropathie, sensorische und autonome, hereditäre, mit spastischer Paraplegie Neuropatia autonoma e sensoriale ereditaria - paraplegia spastica Neuropatia hereditária sensitiva e autonómica, com paraparésia espástica Neuropatía sensitiva y autónoma, hereditaria, con paraplejía espástica hrdo:pat_id_16923 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 300614 neant G60.8 139583 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Auditorische Neuropathie mit peripherer sensibler Neuropathie, X-chromosomal, Typ 1 HSAN con sordità legata all'X HSAN mit Schwerhörigkeit, X-chromosomal NHSA avec surdité liée à l'X NSAH con sordera, ligada a X Neuropathie auditive avec neuropathie sensitive périphérique de type 1 liée à l'X Neuropatia acustica con neuropatia sensitiva periferica legata all'X, tipo 1 Neuropatía auditiva con neuropatía periférica sensitiva, ligada a X, tipo 1 X-linked HSAN with deafness X-linked auditory neuropathy with peripheral sensory neuropathy type 1 Neuropathie sensitive et autonomique héréditaire liée à l'X avec surdité Neuropathie, sensorische und autonome, hereditäre, mit Taubheit, X-chromosomale Neuropatia autonoma e sensoriale ereditaria - sordità legata all'X Neuropatia hereditária sensitiva e autonómica, com surdez, ligada ao X Neuropatía sensitiva y autónoma, hereditaria, con sordera, ligada al cromosoma X X-linked hereditary sensory and autonomic neuropathy with deafness hrdo:pat_id_16924 158580 607641 neant G12.2 139589 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Atrofia musculas espinal distal con parálisis en las cuerdas vocales Atrofia spinale muscolare con paralisi delle corde vocali Atrophie musculaire spinale distale avec paralysie des cordes vocales Distal spinal muscular atrophy with vocal cord paralysis Distale-HMN 7 HMN-7 distale Spinale Muskelatrophie, distale, mit Stimmbandlähmung dHMN7 dHMN7 dHMN7 Distal hereditary motor neuropathy type 7 Neuropathie motrice distale héréditaire type 7 Neuropathie, distale motorische, hereditäre, Typ 7 Neuropatia motoria distale ereditaria, tipo 7 Neuropatia, motora, distal, hereditária, tipo 7 Neuropatía motora distal hereditaria tipo 7 hrdo:pat_id_1693 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601222 neant Q75.0 1527 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Craneosinostosis, tipo Filadelfia Craniosinostosi, tipo Filadelfia Craniossinostose, tipo Filadélfia Craniosynostose type Philadelphie Craniosynostosis, Philadelphia type Kraniosynostose Typ Philadelphia hrdo:pat_id_1694 218670 C535597 neant Q04.3 1528 C1857471 malformation syndrome Craniotelencephalic dysplasia Displasia craneo telencefálica Displasia craniotelencefalica Displasia craniotelencefálica Dysplasie cranio-télencéphalique Dysplasie, kraniotelenzephale hrdo:pat_id_16945 140162 group of phenomes Inherited cancer-predisposing syndrome Inherited cancer-predisposing syndrome Krebsprädispositionssyndrom, hereditäres Syndrome familial avec prédisposition aux cancers Síndrome de predisposición heredada al cáncer Síndrome predisposição hereditária para cancro hrdo:pat_id_1695 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 122880 C536453 neant Q87.0 1529 C1852510 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CDHS CDHS CDHS CDHS CDHS Sindrome di Sommer-Young-Wee-Frye Sommer-Young-Wee-Frye syndrome Sommer-Young-Wee-Frye, síndrome de Sommer-Young-Wee-Frye-Syndrom Syndrome de Sommer-Young Wee-Frye Síndrome de Sommer-Young-Wee-Frye Síndrome de Sommer-Young-Wee-Frye Anomalies craniofaciales - surdité - anomalie de la main Craniofacial-deafness-hand syndrome Schädel-Gesicht-Schwerhörigkeit-Hand-Syndrom Sindrome craniofacciale-sordità-mani Síndrome craneofacial-sordera-mano Síndrome craniofacial-surdez-mão hrdo:pat_id_1696 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601853 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Craniosynostos*+alopecia%5Bti%5D+OR+Lopez+Hernandez%5Btw%5D+OR+%28%28Cerebello+trigeminal+OR+cerebellotrigeminal%29+AND+dermal%29 Q07.8 1532 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cerebellotrigeminal - dermal dysplasia Craneosinostosis - alopecia - ventrículo cerebral anormal Craniosinostosi - alopecia - anomalie dei ventricoli cerebrali Craniosynostose - alopécie - ventricule cérébral anormal Craniosynostosis - alopecia - brain defect Lopez-Hernandez, síndrome de Lopez-Hernandez-Syndrom Síndrome de Lopez-Hernandez Craniossinostose - alopecia - anomalia cerebral Kraniosynostose - Alopezie - Hirndefekt Lopez-Hernandez syndrome Sindrome di Lopez-Hernandez Syndrome de Lopez-Hernandez Síndrome de Lopez-Hernandez hrdo:pat_id_16962 neant E20.8 140286 group of phenomes Hipoparatiroidismo debido a una secreción deficiente de paratohormona, secundario Hipoparatiroidismo por secreção reduzida da paratormona, secundária Hypoparathyreoidismus durch gestörte Parathormon-Sekretion, sekundärer Hypoparathyroidism due to impaired parathormon secretion, secondary Hypoparathyroïdie secondaire due à un défaut de sécrétion de parathormone Secondary hypoparathyroidism due to impaired parathormon secretion hrdo:pat_id_16963 140428 group of phenomes Eisenüberladung, hereditäre, mit neurologischer Manifestation Hereditary iron overload with neurologic manifestation Iron overload, hereditary, with neurologic manifestation Sobrecarga hereditaria de hierro, con manifestación neurológica Sobrecarga hereditária de ferro com manifestação neurológica Surcharge en fer héréditaire avec manifestation neurologique hrdo:pat_id_16964 140432 group of phenomes Eisenüberladung, hereditäre, mit Anämie Hereditary iron overload with anemia Iron overload, hereditary, with anaemia Sobrecarga hereditaria de hierro, con anemia Sobrecarga hereditária de ferro com anemia Surcharge en fer héréditaire avec anémie hrdo:pat_id_16965 606893 neant D18.0 140436 disease Hemangioma intraóseo Hémangiome intraosseux Intraosseous hemangioma Malformación vascular ósea Malformation vasculaire osseuse Osseous vascular malformation Malformación intraósea vascular primaria Malformation vasculaire osseuse primaire Malformazione vascolare intraossea primitiva Malformação vascular intra-óssea, primária Primary intraosseous vascular malformation Vaskuläre Fehlbildung, intraossäre, primäre hrdo:pat_id_16966 D015417 neant G60.0 140450 398100001 C0027888 group of phenomes Hereditary motor and sensory neuropathy Neuropathie sensitivo-motrice héréditaire Neuropathie, motorische und sensorische, hereditäre Neuropathy, motor and sensory, hereditary Neuropatia hereditária sensitiva e motora Neuropatía motora y sensitiva hereditaria hrdo:pat_id_16967 neant G60.0 140453 group of phenomes Autosomal dominant hereditary demyelinating motor and sensory neuropathy Neuropathie sensitivo-motrice démyélinisante héréditaire autosomique dominante Neuropathie, motorische und sensorische, demyelinisierende, hereditäre, autosomal-dominante Neuropathy, motor and sensory, demyelinating, hereditary, autosomal dominant Neuropatia hereditária desmielinizante sensitiva e motora, autossómica dominante Neuropatía motora y sensitiva desmielinizante, hereditaria, autosómica dominante hrdo:pat_id_16968 neant G60.0 140456 group of phenomes Autosomal dominant hereditary axonal motor and sensory neuropathy Neuropathie sensitivo-motrice axonale héréditaire autosomique dominante Neuropathie, motorische und sensorische, axonale, hereditäre, autosomal-dominante Neuropathy, motor and sensory, axonal, hereditary, autosomal dominant Neuropatia sensitiva e motora axonal hereditária, autossómica dominante Neuropatía motora y sensitiva axonal, hereditaria, autosómica dominante hrdo:pat_id_16969 neant G60.0 140459 group of phenomes Autosomal recessive hereditary demyelinating motor and sensory neuropathy Neuropathie sensitivo-motrice démyélinisante héréditaire autosomique récessive Neuropathie, motorische und sensorische, demyelinisierende, hereditäre, autosomal-rezessive Neuropathy, motor and sensory, demyelinating, hereditary, autosomal recessive Neuropatia hereditária desmielinizante sensitiva e motora, autossómica recessiva Neuropatía motora y sensitiva desmielinizante, hereditaria, autosómica recesiva hrdo:pat_id_1697 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 218550 neant Q87.0 1533 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Lowry syndrome Lowry, síndrome de Lowry-Syndrom Sindrome di Lowry Syndrome de Lowry Síndrome de Lowry Síndrome de Lowry Craneosinostosis - aplasia de peroné Craniosinostosi - aplasia del perone Craniossinostose - aplasia peronial Craniosynostose - aplasie du péroné Craniosynostosis - fibular aplasia Kraniosynostose - Fibula-Aplasie hrdo:pat_id_16970 neant G60.0 140462 group of phenomes Neuropathie sensitivo-motrice axonale héréditaire liée à l'X Neuropathie, motorische und sensorische, axonale, hereditäre, X-chromosomal-rezessive Neuropathy, motor and sensory, axonal, hereditary, X-linked recessive Neuropatia hereditária axonal sensitiva e motora, ligada ao X recessiva Neuropatía motora y sensitiva axonal, hereditaria, recesiva ligada a X X-linked recessive hereditary axonal motor and sensory neuropathy hrdo:pat_id_16971 neant G12.1 140465 group of phenomes Amyotrophie spinale distale autosomique dominante Atrofia muscular espinal distal autosómica dominante Autosomal dominant dHMN Autosomal dominant distal spinal muscular atrophy dHMN autosomique dominante dHMN autosómica dominante dSMA autosomique dominante Autosomal dominant distal hereditary motor neuropathy Neuropathie motrice distale héréditaire autosomique dominante Neuropathy, motor, distal, hereditary, autosomal dominant Neuropathy, motorische, distale, hereditäre, autosomal-dominante Neuropatia hereditária motora distal, autossómica dominante Neuropatía motora distal hereditaria autosómica dominante hrdo:pat_id_16972 neant G12.2 140468 group of phenomes Amyotrophie spinale distale autosomique récessive Atrofia muscular espinal distal autosómica recesiva Autosomal recessive dHMN Autosomal recessive dSMA Autosomal recessive distal spinal muscular atrophy dHMN autosomique récessive dHMN autosómica recesiva dSMA autosomique récessive dSMA autosómica recesiva Autosomal recessive distal hereditary motor neuropathy Neuropathie motrice distale héréditaire autosomique récessive Neuropathy, motor, distal, hereditary, autosomal recessive Neuropathy, motorische, distale, hereditäre, autosomal-rezessive Neuropatia hereditária motora distal, autossómica recessiva Neuropatía motora distal hereditaria autosómica recesiva hrdo:pat_id_16973 D009477 neant G60.8 140471 128205005 C0027889 group of phenomes HSAN NSAH Hereditary sensory and autonomic neuropathy Neuropathie sensitive et autonomique héréditaire Neuropathy, sensorische und autonome, hereditäre Neuropathy, sensory and autonomic, hereditary Neuropatia hereditária sensitiva e autonómica Neuropatía sensitiva y autónoma hereditaria hrdo:pat_id_16974 neant G60.8 140474 group of phenomes Autosomal dominant hereditary sensory and autonomic neuropathy Neuropathie sensitive et autonomique héréditaire autosomique dominante Neuropathy, sensorische und autonome, hereditäre, autosomal-dominante Neuropathy, sensory and autonomic, hereditary, autosomal dominant Neuropatia hereditária sensitiva e autonómica, autossómica dominante Neuropatía sensitiva y autónoma, hereditaria, autosómica dominante hrdo:pat_id_16975 neant G60.8 140477 group of phenomes Autosomal recessive hereditary sensory and autonomic neuropathy Neuropathie sensitive et autonomique héréditaire autosomique récessive Neuropathy, sensorische und autonome, hereditäre, autosomal-rezessive Neuropathy, sensory and autonomic, hereditary, autosomal recessive Neuropatia hereditária sensitiva e autonómica, autossómica recessiva Neuropatía sensitiva y autónoma, hereditaria, autosómica recesiva hrdo:pat_id_16976 608236 neant G60.0 140481 disease Autosomal dominant slowed nerve conduction velocity Ralentissement de la vitesse de conduction nerveuse autosomique dominante Slowed nerve conduction velocity, autosomal dominant Velocidad de conducción nerviosa enlentecida, autosómica dominante Velocidade reduzida da condução nervosa, autossómica dominante Verlangsamte Nervenleitgeschwindigkeit, autosomal-dominante hrdo:pat_id_16979 140500 group of phenomes Canalopathie neurologique Canalopatia neurológica Canalopatía neurológica Channelopathy, neurological Ionenkanalkrankheit, neurologische Neurological channelopathy hrdo:pat_id_1698 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q87.0 1535 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Glass-Chapman-Hockley syndrome Glass-Chapman-Hockley, síndrome de Glass-Chapman-Hockley-Syndrom Sindrome di Glass-Chapman-Hockley Syndrome de Glass-Chapman-Hockley Síndrome de Glass-Chapman-Hockley Síndrome de Glass-Chapman-Hockley Craneosinostosis - braquidactilia Craniosinostosi - brachidattilia Craniossinostose - braquidactilia Craniosynostose - brachydactylie Craniosynostosis - dysmorphism - brachydactyly Kraniosynostose - Dysmorphien - Brachydaktylie hrdo:pat_id_16980 D053447 140503 C1720983 group of phenomes Canalopathie Canalopatia Canalopatía Channelopathy Channelopathy Ionenkanalkrankheit hrdo:pat_id_1699 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 123150 C537559 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Jackson+Weiss%5Btw%5D Q87.8 1540 C0795998 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Craniosinostosi - ipoplasia della parte media del viso - anomalie dei piedi Craniossinostose - hipoplasia do terço médio da face - anomalias dos pés Craniosynostose - hypoplasie du milieu du visage - malformation des pieds Craniosynostosis - midfacial hypoplasia - foot abnormalities JWS JWS JWS JWS JWS Kraniosynostose - Mittelgesichtshypoplasie - Fußanomalien Jackson-Weiss syndrome Jackson-Weiss-Syndrom Sindrome di Jackson-Weiss Syndrome de Jackson-Weiss Síndrome de Jackson-Weiss Síndrome de Jackson-Weiss hrdo:pat_id_16991 140653 group of phenomes Doença neuro-oftalmológica Enfermedad neuro-oftalmológica Maladie neuro-ophtalmologique Neuro-ophthalmological disease Neuro-ophthalmological disease Neuro-ophthalmologische Krankheit hrdo:pat_id_16992 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 140874 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown JSRD JSRD JSRD Joubert syndrome and related disorders Joubert-Syndrom und verwandte Krankheiten Sindrome di Joubert e sindromi correlate Syndrome de Joubert et maladies associées Síndrome de Joubert e doenças relacionadas Síndrome de Joubert y trastornos relacionados hrdo:pat_id_16993 D045169 10061982 neant U04 140896 398447004 C1175175 disease SARS SARS SARS SARS-CoV SARS-CoV SARS-CoV SARS-associated corona virus SARS-associé au corona virus SARS-assoziiertes Coronavirus Schweres akutes respiratorisches Syndrom Severe acute respiratory syndrome Severe acute respiratory syndrome Syndrome respiratoire aigu sévère Síndrome respiratorio agudo grave Síndrome respiratório agudo grave hrdo:pat_id_16994 neant E78.4 140905 disease Hiperlipidemia debido a un déficit de triglicérido-lipasa hepática Hiperlipidemia por deficiência de triglicerídeo-lipase hepática Hyperlipidemia due to hepatic triglyceride lipase deficiency Hyperlipidämie durch hepatischen Triglyceridlipase-Mangel Hyperlipidémie due à un déficit en triglycéride lipase hépatique Iperlipidemia da deficit di triglicerido-lipasi epatica hrdo:pat_id_16995 611377 neant Q73.8 140908 malformation syndrome Brachidattilia, tipo B2 Brachydactylie type B2 Brachydactyly type B2 Brachydaktylie Typ B2 Braquidactilia tipo B2 Braquidatilia tipo B2 hrdo:pat_id_16998 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 184460 neant Q87.8 140917 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Syndrome de Teunissen-Cremers Síndrome de Teunissen-Cremers Teunissen-Cremers syndrome Anchilosi della staffa associata a pollici e dita dei piedi larghi Ankylose de l'étrier avec pouces et orteils larges Anquilose do estribo com polegares e dedos dos pés largos Anquilosis del estribo con pulgar y dedo gordo del pie anchos Stapes ankylosis with broad thumbs and toes Stapesankylose mit breiten Daumen und Zehen hrdo:pat_id_16999 608807 neant G71.0 140922 disease LGMD2J LGMD2J Autosomal recessive limb-girdle muscular dystrophy type 2J Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2J Distrofia muscular das cinturas, autossómica recessiva, tipo 2J Distrofia muscular de cinturas, autosómica recesiva, tipo 2J Dystrophie musculaire des ceintures autosomique récessive type 2J Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2J hrdo:pat_id_17 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 232600 C537276 D006012 10018462 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=glycogen+storage+disease+type+v%5Bmajr%5D E74.0 368 55912009 C0017924 C2936916 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficit di miofosforilasi Deficiência de Miofosforilase Doença de McArdle Doença no armazenamento de glicogénio, tipo 5 Déficit de miofosforilasa Déficit en myophosphorylase Enfermedad de McArdle Enfermedad de almacenamiento de glucógeno tipo 5 GSD da deficit di glicogeno fosforilasi muscolare GSD due to muscle glycogen phosphorylase deficiency GSD par déficit en glycogène phosphorylase musculaire GSD por déficit de glucógeno fosforilasa muscular GSD tipo 5 GSD type 5 GSD type 5 GSD, tipo 5 Glicogenosi da deficit di glicogeno fosforilasi muscolare Glicogenosi, tipo 5 Glicogénio, doença no armazenamento de, tipo 5 Glucogenosis por déficit de glucógeno fosforilasa muscular Glucogenosis tipo 5 Glycogen storage disease type 5 Glycogenosis due to muscle glycogen phosphorylase deficiency Glycogénose type 5 Glykogen-Speicherkrankheit Typ 5 Maladie de McArdle Malattia da deposito di glicogeno, tipo 5 Malattia di McArdle McArdle disease McArdle, doença de McArdle-Krankheit Miofosforilase, deficiência de Myophosphorylase deficiency Myophosphorylase-Mangel Type 5 glycogenosis Enfermedad de almacenamiento de glucógeno por déficit de glucógeno fosforilasa muscular Glicogenose tipo 5 Glycogen storage disease due to muscle glycogen phosphorylase deficiency Glycogénose par déficit en glycogène phosphorylase musculaire Glykogenose Typ 5 Malattia da deposito di glicogeno da deficit di glicogeno fosforilasi muscolare hrdo:pat_id_170 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300400 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=severe+combined+immunodeficiency%5Bmajr%5D+AND+x-chromosome%5Bmajr%5D D81.2 276 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive etiological subtype 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Déficit immunitaire combiné sévère T- B+ lié à l'X Immundefekt, kombinierter schwerer, X-chromosomaler, T- B+ Immunodeficienza combinata grave T- B+ legata all'X Inmunodeficiencia combinada severa T- B+ ligada al X SCIDX1 SCIDX1 SCIDX1 SCIDX1 SCIDX1 Severe combined immunodeficiency T- B+, X-linked Immundefekt, kombinierter schwerer, durch Gamma-Ketten-Defekt, T- B+ Immunodeficienza combinata grave T- B+ da deficit della catena gamma Immunodéficience combinée sévère T-B+ due à un déficit en chaîne gamma Imunodeficiência combinada grave ligada ao X, T- B+ Inmunodeficiencia combinada severa T- B+ por déficit de cadena gamma Severe combined immunodeficiency T- B+ due to gamma chain deficiency hrdo:pat_id_17000 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 607745 10067866 neant G40.4 140927 230410004 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 BFNIS Benign neonatal-infantile epilepsy Epilepsie néonatale-infantile bénigne Benign familial neonatal-infantile seizures Convulsiones neonatales-infantiles familiares benignas Convulsioni benigne familiari neonatali-infantili Convulsions néonatales-infantiles bénignes familiales Convulsões benignas neonatais-infantis familiares Krampfanfälle, benigne familiäre neonatale/infantile hrdo:pat_id_17001 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 140933 403395007 C1274753 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atrofoderma lineal de Moulin Atrofoderma lineare di Moulin Atrofodermia linear de Moulin Atrophoderma, lineares, Typ Moulin Atrophodermie linéaire de Moulin Linear atrophoderma of Moulin hrdo:pat_id_17002 608290 neant 140936 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia ectodérmica - acantosis nigricans Displasia ectodérmica - acantosis pigmentaria Dysplasie ectodermique - acanthosis nigricans Ectodermal dysplasia - acanthosis nigricans Lelis syndrome Lelis-Syndrom Sindrome di Lelis Syndrome de Lelis Síndrome de Lelis Síndrome de Lelis hrdo:pat_id_17003 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant E34.3 140941 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Baixa estatura por deficiência primária da subunidade ácido-lábil Baja estatura debido a deficiencia primaria de subunidad ácido-lábil Bassa statura da deficit primitivo della subunità acido-labile Kleinwuchs durch primären Mangel der säurelabilen Untereinheit Petite taille due à un déficit primaire en sous-unité acide labile Short stature due to primary acid-labile subunit deficiency hrdo:pat_id_17004 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 612918 neant Q87.3 140944 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Congenital lipomatous overgrowth - vascular malformation - epidermal nevi Excroissance lipomateuse congénitale - malformation vasculaire - névus épidermique Sobrecrecimiento lipomatoso congénito - malformación vascular - nevus epidérmico CLOVE syndrome CLOVE-Syndrom Sindrome CLOVE Syndrome CLOVE Síndrome CLOVE Síndrome CLOVE hrdo:pat_id_17005 140949 particular clinical situation in a disease or syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Low-flow priapism Priapisme à flux réduit Priapismo a basso flusso Priapismo de baixo fluxo Priapismo de bajo flujo Priapismus, Low-Flow-Typ hrdo:pat_id_17006 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300707 neant Q87.8 140952 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 STAR syndrome STAR-Syndrom Syndrome STAR Síndrome STAR Sindactilia - telecanto - malformaciones renales y anogenitales Sindactilia - telecanto - malformações anogenitais e renais Sindattilia - telecanto - malformazioni anogenitali e renali Syndactylie - télécanthus - malformations rénale et anogénitale Syndactyly - telecanthus - anogenital and renal malformations Syndaktylie - Telekanthus - anogenitale und renale Fehlbildungen hrdo:pat_id_17007 613112 615193 neant D69.4 140957 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Autosomal dominant macrothrombocytopenia Macrothrombocytopénie autosomique dominant Macrotrombocitopenia autosomica dominante Macrotrombocitopenia autosómica dominante Macrotrombocitopenia com formação anormal pró-plaquetária, autossómica dominante Makrothrombozytopenie, autosomal-dominante hrdo:pat_id_1701 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601378 C536214 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Crisponi%5Btw%5D+OR+%28Trismus+AND+%28camptodactyly+OR+Facial+Muscles/ab%29%29 Q87.8 1545 C1832409 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Crisponi syndrome Crisponi-Syndrom Sindrome di Crisponi Syndrome de Crisponi Síndrome de Crisponi Síndrome de Crisponi hrdo:pat_id_17010 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 612290 neant 140963 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Bilateral microtia - deafness - cleft palate Bilaterale Mikrotie - Schwerhörigkeit - Gaumenspalte Microtia bilateral - sordera - paladar hendido Microtia bilateral - surdez - fenda do palato Microtia bilaterale - sordità - palatoschisi Microtie bilatérale - surdité - fente palatine hrdo:pat_id_17011 neant Q82.8 140966 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hiperqueratosis palmoplantar, tipo Nagashima Hyperkératose palmoplantaire type Nagashima Ipercheratosi palmoplantare, tipo Nagashima KPP type Nagashima PPK type Nagashima PPK, Nagashima type PPK, tipo Nagashima PPK, tipo Nagashima Palmoplantar hyperkeratosis, Nagashima type Cheratoderma palmoplantare, tipo Nagashima Keratose, Nagashima-Typ Kératodermie palmoplantaire type Nagashima Palmoplantar keratoderma, Nagashima type Queratodermia palmoplantar, tipo Nagashima Queratose tipo Nagashima hrdo:pat_id_17012 266920 C535463 neant Q87.5 140969 C1849437 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Conorenal syndrome Displasia renal - distrofia pigmentaria de la retina - ataxia cerebelosa - displasia del esqueleto Displasia renal - distrofia pigmentaria retiniana - ataxia cerebelosa - displasia esquelética Dysplasie rénale - dystrophie pigmentaire de la rétine - ataxie cérébelleuse - dysplasie osseuse Renal dysplasia - retinal pigmentary dystrophy - cerebellar ataxia - skeletal dysplasia Syndrome conorénal Síndrome cono-renal Síndrome conorenal Saldino-Mainzer syndrome Saldino-Mainzer-Syndrom Sindrome di Saldino-Mainzer Syndrome de Saldino-Mainzer Síndrome de Saldino-Mainzer Síndrome de Saldino-Mainzer hrdo:pat_id_17013 602152 C537612 neant 140976 C1865794 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Retinitis pigmentosa - hypopituitarism - nephronophthisis - skeletal dysplasia Rétinite pigmentaire - hypopituitarisme - néphronophtise - dysplasie osseuse RHYNS syndrome RHYNS-Syndrom Sindrome RHYNS Syndrome RHYNS Síndrome RHYNS Síndrome RHYNS hrdo:pat_id_17015 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Variabel Variabile Variable Variable Variable Variable Variável C535276 D020293 neant I67.7 140989 230733004 C0751881 C2930862 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown APSNC Angeítis del sistema nervioso central, aislada Angéite isolée du système nerveux central Isolated angiitis of the central nervous system PACNS Primary vasculitis of the central nervous system Vascularite primaire du système nerveux central Vasculitis primaria del sistema nervioso central Angeitis primaria del sistema nervioso central Angeíte primária do sistema nervoso central Angiitis, primary, of the central nervous system Angiitis, primäre, des zentralen Nervensystems Angéite primaire du système nerveux central Primary angiitis of the central nervous system hrdo:pat_id_17016 neant Q87.0 140997 52868006 group of phenomes OFD OFD OFD OFD OFD Orofaciodigital syndrome Sindrome orofaciodigitale Syndrome orofaciodigital Síndrome orofaciodigital Oral-facial-digital syndrome Oro-fazio-digitales Syndrom Sindrome orale-facciale-digitale Syndrome oro-facio-digital Síndrome oral-facial-digital Síndrome orofaciodigital hrdo:pat_id_17017 612913 neant Q87.0 141000 malformation syndrome OFD11 OFD11 OFD11 OFD11 OFD11 Oral-facial-digital syndrome, Gabrielli type Oro-fazio-digitales Syndrom Typ Gabrielli Orofaciodigital syndrome type 11 Orofaciodigital syndrome, Gabrielli type Sindrome oro-facio-digitale, tipo Gabrielli Sindrome orofaciodigitale, tipo 11 Sindrome orofaciodigitale, tipo Gabrielli Syndrome orofaciodigital de type 11 Syndrome orofaciodigital type Gabrielli Síndrome orofaciodigital tipo Gabrielli Oral-facial-digital syndrome type 11 Oro-fazio-digitales Syndrom Typ 11 Sindrome oro-facio-digitale, tipo 11 Syndrome oro-facio-digital de type 11 Síndrome orofaciodigital tipo 11 Síndrome orofaciodigital tipo 11 hrdo:pat_id_17018 258865 neant Q87.0 141007 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 OFD9 OFD9 OFD9 OFD9 OFD9 Oral-facial-digital syndrome with retinal abnormalities Oro-fazio-digitales Syndrom mit retinalen Anomalien Orofaciodigital syndrome type 9 Orofaciodigital syndrome with retinal abnormalities Sindrome oro-facio-digitale con anomalie retiniche Syndrome orofaciodigital avec anomalies rétiniennes Syndrome orofaciodigital de type 9 Síndrome orofaciodigital con anomalías de la retina Oral-facial-digital syndrome type 9 Oro-fazio-digitales Syndrom Typ 9 Sindrome oro-facio-digitale, tipo 9 Syndrome oro-facio-digital de type 9 Síndrome orofaciodigital tipo 9 Síndrome orofaciodigital tipo 9 hrdo:pat_id_17019 neant Q18.0 141013 morphological anomaly First branchial cleft cyst First branchial cleft fistula Fistule de la première fente branchiale Fístula de la primera hendidura branquial Kyste de la première fente branchiale Quiste de la primera hendidura branquial Anomalia da primeira fenda branquial Anomalie de la première fente branchiale Anomalía de la primera hendidura branquial Branchial cleft anomaly, first First branchial cleft anomaly Kiemenbogen, 1., Anomalie des hrdo:pat_id_1702 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 123560 neant Q87.8 1547 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome di Tonoki-Ohura-Niikawa Syndrome de Tonoki-Ohura-Niikawa Síndrome de Tonoki-Ohura-Niikawa Síndrome de Tonoki-Ohura-Niikawa Tonoki-Ohura-Niikawa syndrome Tonoki-Ohura-Niikawa, síndrome de Tonoki-Ohura-Niikawa-Syndrom Criptomicrotia - braquidactilia - anomalías de dermatoglifos Critptomicrotia - brachidattilia - anomalie dei dermatoglifi Cryptomicrotia - brachydactyly - excess fingertip arch Cryptomicrotie - brachydactylie - anomalies des dermatoglyphes Kryptomikrotie - Brachydaktylie - Anomalie der Dermatoglyphen Síndrome criptomicrotia - braquidactilia com excesso de arcos digitais hrdo:pat_id_17020 113600 neant Q18.0 141022 morphological anomaly Fistule de la seconde fente branchiale Fístula de la segunda hendidura branquial Kyste de la seconde fente branchiale Quiste de la segunda hendidura branquial Second branchial cleft cyst Second branchial cleft fistula Anomalia da segunda fenda branquial Anomalia della seconda fessura brianchiale Anomalie de la seconde fente branchiale Anomalía de la segunda hendidura branquial Kiemenbogen, 2., Anomalie des Second branchial cleft anomaly hrdo:pat_id_17021 neant Q18.0 141030 morphological anomaly Fistule de la troisième fente branchiale Fístula de la tercera hendidura branquial Kyste de la troisième fente branchiale Quiste de la tercera hendidura branquial Third branchial cleft cyst Third branchial cleft fistula Anomalia da terceira fenda branquial Anomalie de la troisième fente branchiale Anomalía de la tercera hendidura branquial Kiemenbogen, 3., Anomalie des Third branchial cleft anomaly Third branchial cleft anomaly hrdo:pat_id_17022 neant Q18.0 141037 morphological anomaly Fistule de la quatrième fente branchial Fourth branchial cleft cyst Fourth branchial cleft fistula Fístula de la cuarta hendidura branquial Kyste de la quatrième fente branchiale Quiste de la cuarta hendidura branquial Anomalia da quarta fenda branquial Anomalie de la quatrième fente branchiale Anomalía de la cuarta hendidura branquial Fourth branchial cleft anomaly Fourth branchial cleft anomaly Kiemenbogen, 4., Anomalie des hrdo:pat_id_17023 neant Q18.8 141046 morphological anomaly Dermoid cyst of the neck Kyste dermoïde du cou Quiste dermoide de cuello Quiste dermoide del cuello Cervical dermoid cyst Cervical dermoid kyst Dermoidzyste, zervikale Kyste dermoïde cervical Quiste dermoide cervical Quisto dermóide cervical hrdo:pat_id_17024 neant Q18.8 141051 morphological anomaly Dermoid cyst of the face Kyste dermoïde du visage Quiste dermoide de cara Quiste dermoide de la cara Dermoidzyste, faziale Facial dermoid cyst Facial dermoid cyst Kyste dermoïde de la face Quiste dermoide facial Quisto dermóide facial hrdo:pat_id_17026 neant Q38.0 141061 morphological anomaly Commissural lip fistula Fistule de la commisure labiale Fístula da comissura do lábio Fístula en la comisura del labio Lip fistula, commissural Lippenfistel, kommissurale hrdo:pat_id_17027 neant Q38.0 141064 morphological anomaly Fistule labiale inférieure Fistule de la lèvre inférieure Fístula do lábio inferior Fístula en labio inferior Lip fistula, lower Lower lip fistula Unterlippenfistel hrdo:pat_id_17028 141067 morphological anomaly Cervicofacial enchondroma Enchondrome cervicofacial Encondroma cervicofacial Cervicofacial fibrochondroma Fibrochondrom, zervikofaziales Fibrochondroma, cervicofacial Fibrochondrome cervicofacial Fibrocondroma cervicofacial Fibrocondroma cervicofacial hrdo:pat_id_17029 neant Q38.3 141071 morphological anomaly Duplication entérique de la langue Duplication gastrique linguale Duplication intestinale linguale Enteric duplication cyst of the tongue Foregut duplication cyst of the tongue Gastric duplication cyst of the tongue Quiste de duplicación de la lengua en intestino proximal Quiste de duplicación en lengua, de intestino anterior Quiste entérico de duplicación de la lengua Quiste entérico de duplicación en lengua Quiste gástrico de duplicación de la lengua Quiste gástrico de duplicación en lengua Digestive duplication cyst of the tongue Duplication cyst of tongue Duplication digestive linguale Quiste de duplicación en lengua Quisto de duplicação da língua, digestivo Zunge, zystische Duplikatur der hrdo:pat_id_1703 neant Q87.8 1548 malformation syndrome Bentham-Driessen-Hanveld, síndrome de Sindrome di Van Benthem-Driessen-Hanveld Syndrome de Van Benthem-Driessen-Hanveld Síndrome de Bentham-Driessen-Hanveld Síndrome de Van Benthem-Driessen-Hanveld Van Benthem-Driessen-Hanveld syndrome Van Benthem-Driessen-Hanveld-Syndrom Criptorchidismo - aracnodattilia - ritardo mentale Criptorquidia - aracnodactilia - atraso mental Criptorquidia - aracnodactilia - déficit intelectual Cryptorchidie - arachnodactylie - déficit intellectuel Cryptorchidism - arachnodactyly - intellectual deficit Kryptorchismus - Arachnodaktylie - Intelligenzminderung hrdo:pat_id_17030 108760 neant Q16.1 141074 morphological anomaly Estenosis/atresia del conducto auditivo externo External auditory canal stenosis/atresia Sténose/atrésie du conduit auditif externe Aplasia del canal auditivo, externa Aplasia do canal auditivo externo Aplasia/ipoplasia del canale uditivo esterno Aplasie/Hypoplasie des äußeren Gehörgangs Aplasie/hypoplasie du conduit auditif externe External auditory canal aplasia/hypoplasia hrdo:pat_id_17031 neant D10.5 141077 31248004 C0266725 disease Oropharyngeal teratoma Teratoma orofaríngeo Tératome oropharyngé mature Epignathus Epignathus Epignathus Epignato Epignato Tératome épignathe hrdo:pat_id_17032 neant H04.6 141083 malformation syndrome Congenital nasolacrimal duct obstruction Congenital nasolacrimal mucocele Dacriocistocele Dacryocystocele Mucocele nasolacrimal congénito Mucocele nasolagrimal congénita Mucocèle lacrymonasal congénital Obstrucción congénita del conducto nasolacrimal Obstrucción congénita del conducto nasolagrimal Obstruction congénitale du canal lacrymonasal Dakryozystozele Kyste lacrymonasal Nasolacrimal duct cyst Nasolacrimal duct cyst Quiste en el conducto nasolacrimal Quisto do ducto nasolacrimal hrdo:pat_id_17033 neant Q30.8 141091 malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Double nose Nariz doble Nez double Polirinia Polirrinia Polirrinia Polyrhinie Polyrhinie Polyrrhinia hrdo:pat_id_17034 neant Q30.8 141096 malformation syndrome Narina supranumerária Narine surnuméraire Nasenlöcher, überzählige Supernumerary nostril Supernumerary nostrils Ventana nasal supernumeraria hrdo:pat_id_17035 neant Q30.8 141099 malformation syndrome Congenital tubular nose Nariz tubular congénita Nez tubulaire congénital Proboscis lateral Proboscis lateralis Proboscis lateralis Proboscis lateralis Proboscis lateralis Proboscis latéral hrdo:pat_id_17036 600679 neant Q18.8 141103 morphological anomaly Nasal dermoid sinus cyst Quiste dermoide de la cavidad nasal Quiste dermoide nasal del sino Cisti dermoide nasale Dermoidzyste, nasale Kyste dermoïde nasal Nasal dermoid cyst Quiste dermoideo nasal Quisto dermóide nasal hrdo:pat_id_17037 neant D10.6 141107 disease Quiste sinusal dermoide nasal Teratoma nasofaríngeo Teratoma of the nasopharynx Tératome du nasopharynx Nasopharyngeal teratoma Nasopharyngeal teratoma Teratom, nasopharyngeales Teratoma nasofaringeo Teratoma nasofaríngeo Tératome nasopharyngé hrdo:pat_id_17038 141112 disease Glioma nasal Glioma nasale Gliome nasal Nasal glioma Nasengliom Eterotopia gliale nasale Gliom, nasales Glioma nasal Heterotopia glial nasal Hétérotopie gliale nasale Nasal glial heterotopia hrdo:pat_id_17039 141115 clinical subtype Gangliogliom, nasales Ganglioglioma nasal Ganglioglioma nasal Gangliogliome nasal Nasal ganglioglioma Nasal ganglioglioma hrdo:pat_id_17040 neant Q01.1 141118 65455002 C0014066 clinical subtype Encefalocele nasal Encefalocelo nasal Encéphalocèle nasal Enzephalozele, frontonasale Nasal encephalocele Nasal encephalocele hrdo:pat_id_17041 neant Q31.1 141121 204552001 C0396051 malformation syndrome Congenital subglottic stenosis Estenose subglótica, congénita Estenosis subglótica congénita Sténose sous-glottique congénitale Subglottic stenosis, congenital Subglottisstenose, kongenitale hrdo:pat_id_17042 neant Q31.8 141124 malformation syndrome Cisti laringea congenita Congenital laryngeal cyst Kyste laryngé congénital Larynxzyste, kongenitale Quiste laríngeo congénito Quisto laríngeo congénito hrdo:pat_id_17043 603569 C536975 neant Q32.1 141127 morphological anomaly Congenital tracheal stenosis Estenose traqueal, congénita Estenosis traqueal congénita Stenosi congenita delle trachea Sténose trachéale congénitale Trachealstenose, kongenitale hrdo:pat_id_17044 141132 group of phenomes Displasia otomandibular uni o bilateral asimétrica Dysplasie oto-mandibulaire unilatérale ou bilatérale et asymétrique Espectro OAV OAV spectrum Spectre OAV Unilateral or bilateral and asymmetric otomandibular dysplasia Espectro oculo-auriculo-vertebral Espectro óculo-aurículo-vertebral Oculo-auriculo-vertebral spectrum Oculo-auriculo-vertebral spectrum Okulo-aurikulo-vertebrales Spektrum (OAVS) Spectre oculo-auriculo-vertébral hrdo:pat_id_17045 neant Q75.8 141136 254025006 malformation syndrome Disostosis oromandibular Disostosis otomandibular Dysostose oto-mandibulaire First branchial arch syndrome Laterofacial microsomia Microsomie latéro-faciale Microsomía laterofacial Otomandibular dysostosis Otomandibular syndrome Syndrome du premier arc branchial Syndrome otomandibulaire Síndrome del primer arco branquial Síndrome oromandibular Síndrome otomandibular Hemifacial microsomia Hemifacial microsomia Microsomie hémifaciale Microsomía hemifacial Microssomia hemifacial Mikrosomie, hemifaziale hrdo:pat_id_17046 133900 neant Q67.4 141145 malformation syndrome Hemifacial hypertrophy Hipertrofia hemifacial Hipertrofia hemifacial Hypertrophie hémifaciale Hypertrophie, hemifaziale Ipertrofia emifacciale hrdo:pat_id_17047 606773 C535862 neant Q67.4 141148 C1847521 malformation syndrome Hemifacial myohyperplasia Mio-hiperplasia hemifacial Miohiperplasia hemifacial Mioiperplasia emifacciale Myohyperplasie hémifaciale Myohyperplasie, hemifaziale hrdo:pat_id_17048 612776 neant Q38.3 141152 morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hipoaglosia/aglosia aislada, congénita Hipoglossia/aglossia, isolada, congénita Hypoglossie/Aglossie, isoliert, kongenital Hypoglossie/aglossie isolée congénitale Ipoglossia/aglossia isolata congenita Isolated congenital hypoglossia/aglossia hrdo:pat_id_1705 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601707 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Curry+Jones%5Btw%5D Q87.0 1553 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Agenesia de cuerpo calloso - polisindactilia Agenesia del corpo calloso - polisindattilia Agenesia do corpo caloso - polissindactilia Agénésie du corps calleux - polysyndactylie Corpus callosum agenesis - polysyndactyly Corpus-callosum-Agenesie - Polysyndaktylie Curry-Jones syndrome Curry-Jones-Syndrom Sindrome di Curry-Jones Syndrome de Curry-Jones Síndrome de Curry-Jones Síndrome de Curry-Jones hrdo:pat_id_17051 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 141163 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cosack syndrome Syndrome de Cosack Síndrome de Cosack Anchilosi glossopalatina Ankylose glossopalatine Ankylose, glossopalatine Anquilose glossopalatina Anquilosis glosopalatina Glossopalatine ankylosis hrdo:pat_id_17052 neant Q27.3 141168 malformation syndrome Arteriovenous malformation, frontonasal Arteriovenöse Fehlbildung, frontonasale Frontonasal arteriovenous malformation Malformación arteriovenosa frontonasal Malformation artério-veineuse fronto-nasale Malformação arteriovenosa frontonasal hrdo:pat_id_17053 neant Q27.3 141171 malformation syndrome Arteriovenous malformation, maxillary Arteriovenöse Fehlbildung, maxilläre Malformación arteriovenosa maxilar Malformation artério-veineuse du maxillaire Malformação arteriovenosa maxilar Maxillary arteriovenous malformation hrdo:pat_id_17054 neant Q27.3 141174 malformation syndrome Arteriovenöse Fehlbildung, mandibuläre Arterivenous malformation, mandibular Malformación arteriovenosa mandibular Malformation artério-veineuse mandibulaire Malformação arteriovenosa mandibular Mandibular arteriovenous malformation hrdo:pat_id_17055 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant D18.0 141179 399973007 C1275417 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown NICH NICH NICH Emangioma congenito non involutivo Hemangioma congénito no involutivo Hemangioma não evolutivo, congénito Hämangiom, kongenitales, ohne Spontanrückbildung Hémangiome congénital non-involutif Non-involuting congenital hemangioma hrdo:pat_id_17056 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant D18.0 141184 400162006 C1275421 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown RICH RICH RICH Emangioma congenito a rapida involuzione Hemangioma congénito rápidamente involutivo Hemangioma rapidamente evolutivo, congénito Hämangiom, kongenitales, mit guter Spontanrückbildung Hémangiome congénital rapidement involutif Rapidly involuting congenital hemangioma hrdo:pat_id_17057 neant Q28.2 141189 group of phenomes CAMS CAMS CAMS Cerebrofacial arteriovenous metameric syndrome Cerebrofacial arteriovenous metameric syndrome Syndrome métamérique artérioveineux cérébro-facial Síndrome metamérico arteriovenoso cerebrofacial Síndrome metamérico arteriovenoso cerebrofacial Zerebrofaziales arteriovenöses metameres Syndrom hrdo:pat_id_17058 neant Q28.2 141194 malformation syndrome CAMS 1 CAMS 1 CAMS 1 Cerebrofacial arteriovenous metameric syndrome type 1 Cerebrofacial arteriovenous metameric syndrome, type 1 Syndrome métamérique arterioveineux cérébro facial type 1 Síndrome metamérico arteriovenoso cerebrofacial tipo 1 Síndrome metamérico arteriovenoso cerebrofacial, tipo 1 Zerebrofaziales arteriovenöses metameres Syndrom Typ 1 hrdo:pat_id_17059 neant Q28.2 141199 malformation syndrome CAMS 3 CAMS 3 CAMS 3 Cerebrofacial arteriovenous metameric syndrome type 3 Cerebrofacial arteriovenous metameric syndrome, type 3 Syndrome métamérique artérioveineux cérébro-facial type 3 Síndrome metamérico arteriovenoso cerebrofacial tipo 3 Síndrome metamérico arteriovenoso cerebrofacial, tipo 3 Zerebrofaziales arteriovenöses metameres Syndrom Typ 3 hrdo:pat_id_17061 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant D18.1 141209 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype Diffuse lymphangioma Diffuse lymphangiomatosis Disseminated lympangioma Disseminated lymphangiomatosis Disseminated lymphatic malformation Linfagiomatosi diffusa Linfangioma diffuso Linfangioma difuso Linfangioma diseminado Linfangioma disseminato Linfangiomatosi disseminata Linfangiomatosis difusa Lympangiomatose disséminée Lymphangiom, diffuses Lymphangiom, disseminiertes Lymphangiomatose diffuse Lymphangiomatose, diffuse Lymphangiomatose, disseminierte Lymphangiome diffus Lymphangiome disséminé Lymphatische Fehlbildung, disseminierte Malformación linfática diseminada Malformation lymphatique disséminée Malformazione linfatica disseminata Diffuse lymphatic malformation Linfangiomatose difusa Lymphatische Fehlbildung, diffuse Malformación linfática difusa Malformation lymphatique diffuse Malformazione linfatica diffusa hrdo:pat_id_17062 neant Q67.4 141214 malformation syndrome Congenital maxillomandibular fusion Fusion maxillomandibulaire congénitale Fusión maxilomandibular congénita Congenital syngnathia Signatia congénita Singnatia congénita Syngnathia, congenital Syngnathie congénitale Syngnathie, kongenitale hrdo:pat_id_17063 neant Q18.8 141219 morphological anomaly Fistole/cisti del dorso del naso Fistule/kyste du dos du nez Fístula do dorso nasal Fístula dorso nasal Nasal dorsum fistula/cyst Nasenrückenfistel/-zyste hrdo:pat_id_17064 neant Q18.8 141229 group of phenomes Craniofacial cleft Fente cranio-faciale Hendidura craneofacial Facial cleft Facial cleft Fenda facial Fente faciale Gesichtsspalte Hendidura facial hrdo:pat_id_17065 neant Q18.8 141234 group of phenomes Fente faciale 0-14 et 30 de Tessier Fisuras de Tessier 0-14 y fisura facial 30 Hendidura de la línea media facial Hendidura de la parte media de la cara Hendiduras faciales de Tessier número 0-14 y 30 Midline facial cleft Tessier number 0-14 and 30 facial cleft Fenda mediana da face Fente médiane de la face Hendidura medio-facial Median facial cleft Median facial cleft Mediane Gesichtsspalte hrdo:pat_id_17066 neant Q18.8 141239 morphological anomaly Fente médiane de l'étage moyen de la face Hendidura de la parte media de la cara en estado medio Hendidura mediofacial en línea media Fenda labio-maxilar mediana Fente médiane labio-maxillaire Hendidura mediana en labio superior y maxila Median cleft of the upper lip and maxilla Median cleft of the upper lip and maxilla Mediane Spalte der Oberlippe und des Oberkiefers hrdo:pat_id_17067 neant Q18.8 141242 morphological anomaly Cleft nose Fente du nez Fente faciale 1 de Tessier à l'étage nasal Fisura facial 1 de Tessier, nasal Hendidura nasal Hendidura nasal de Tessier número 1 Nariz hendida Tessier number 1 cleft Fenda nasal Fente nasale paramédiane Hendidura nasal Nasal cleft Nasenspalte, paramediane Paramedian nasal cleft hrdo:pat_id_17069 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q18.8 141253 group of phenomes 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Fente orbito-faciale Hendidura orbitofacial Orbitofacial cleft Fenda oblíqua facial Fente faciale oblique Gesichtsspalte, schräge Hendidura facial oblicua Oblique facial cleft Oblique facial cleft hrdo:pat_id_1707 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 123790 neant Q87.8 1555 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Beare-Stevenson cutis gyrata syndrome Beare-Stevenson, síndrome de Beare-Stevenson-Cutis gyrata-Syndrom Sindrome da cutis gyrata di Beare-Stevenson Syndrome de Beare-Stevenson Síndrome cutis gyrata de Beare-Stevenson Síndrome de Beare-Stevenson Cutis gyrata - Acanthosis nigricans - Kraniosynostose Cutis gyrata - acanthosis nigricans - craniosinostosi Cutis gyrata - acanthosis nigricans - craniosynostose Cutis gyrata - acanthosis nigricans - craniosynostosis Cutis gyrata - acantose nigricans - craniossinostose Cutis gyrata - acantosis nigricans - craneosinostosis hrdo:pat_id_17070 600251 neant Q18.8 141258 morphological anomaly Fenda facial número 4 de Tessier Fente faciale 4 de Tessier Gesichtsspalte, Tessier 4 Hendidura facial número 4 de Tessier Tessier number 4 facial cleft Tessier number 4 facial cleft hrdo:pat_id_17071 neant Q18.8 141261 morphological anomaly Fenda facial número 5 de Tessier Fente faciale 5 de Tessier Gesichtsspalte, Tessier 5 Hendidura facial número 5 de Tessier Tessier number 5 facial cleft Tessier number 5 facial cleft hrdo:pat_id_17072 neant Q18.8 141265 morphological anomaly Fenda facial número 6 de Tessier Fente faciale 6 de Tessier Gesichtsspalte, Tessier 6 Hendidura facial número 6 de Tessier Tessier number 6 facial cleft Tessier number 6 facial cleft hrdo:pat_id_17073 neant Q18.8 141269 group of phenomes Fente faciale 7 de Tessier Fente faciale transverse Fisura facial 7 de Tessier Hendidura facial de Tessier número 7 Hendidura facial oblicua Hendidura facial transversal Tessier number 7 facial cleft Transverse facial cleft Fenda facial lateral Fente faciale latérale Gesichtsspalte, laterale Hendidura facial lateral Lateral facial cleft Lateral facial cleft hrdo:pat_id_17074 613545 neant Q18.4 141276 morphological anomaly Macrostomia Macrostomie Macrostomía Commissural facial cleft Fenda facial comissural Fente faciale commissurale Gesichtsspalte, kommissurale Hendidura facial en la comisura Schisi facciale commissurale hrdo:pat_id_17076 neant Q18.8 141288 403557001 C1274890 morphological anomaly Fenda cervical da linha-média Fente cervicale médiane Hendidura cervical de la línea media Mediane Halsspalte Midline cervical cleft Midline cervical cleft hrdo:pat_id_17077 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q36 141291 373643003 C1298692 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 Fente labio-maxillaire Cleft lip alveolus Fenda lábio-alveolar Fente labio-alvéolaire Fisura labioalveolar Lippenspalte mit Spalte des alveolären Anteils Schisi labio-alveolare hrdo:pat_id_17078 C548034 neant Q87.0 141327 C2932679 malformation syndrome OFD12 OFD12 Orofaciodigital syndrome type 12 Syndrome orofaciodigital de type 12 Oral-facial-digital syndrome type 12 Oro-fazio-digitales Syndrom Typ 12 Orofaciodigital syndrome, type 12 Syndrome oro-facio-digital de type 12 Síndrome orofaciodigital tipo 12 Síndrome orofaciodigital, tipo 12 hrdo:pat_id_17079 C548035 neant Q87.0 141330 C2932680 malformation syndrome OFD13 OFD13 Syndrome orofaciodigital de type 13 Oro-fazio-digitales Syndrom Typ 13 Orofaciodigital syndrome type 13 Orofaciodigital syndrome, type 13 Syndrome oro-facio-digital de type 13 Síndrome orofaciodigital tipo 13 Síndrome orofaciodigital, tipo 13 hrdo:pat_id_17080 141333 disease Biemon syndrome type 2 Biemon-Syndrom Typ 2 Biemond syndrome type 2 Syndrome de Biemond type 2 Síndrome de Biemon, tipo 1 Síndrome de Biemond tipo 2 hrdo:pat_id_17081 155712 group of phenomes Condición rara con designación huérfana Condição rara com designação orfã Particolare condizione clinica rara con designazione orfana Rare clinical particular situation with an orphan designation Seltene klinische Kondition mit Orphan-Drug-Designation Situation clinique particulière rare avec une désignation orpheline hrdo:pat_id_17082 155832 group of phenomes Kopf- und Nackenfehlbildung, seltene Malformación rara de cabeza y cuello Malformation rare de la tête et du cou Malformazione rara di testa e collo Malformação rara da cabeça e pescoço Rare head and neck malformation hrdo:pat_id_17083 neant Q18.0 155835 group of phenomes Cisti e fistole del viso e della cavità orale Cysts and fistulae of the face and oral cavity Fisteln und Zysten des Gesichts und der Mundhöhle Kyste ou fistule de la face et de la cavité orale Quistes y fístulas en la cara y en la cavidad oral Quistos e fístulas orofaciais hrdo:pat_id_17084 neant Q18.8 155838 morphological anomaly Cisiti o fistola del padiglione Fístula/quisto dos pavilhões auriculares Kyste ou fistule du pavillon de l'oreille Ohrmuschelfistel oder -zyste Pinnae fistula or cyst Quiste o fístula auricular hrdo:pat_id_17085 neant Q18.8 155867 group of phenomes Fente faciale 1-1 et 2-12 de Tessier Fisura de Tessier 1-1 y fisura facial 2-12 Hendiduras faciales de Tessier número 1-1 y 2-12 Schisi facciale di Tessier 1-1 e 2-12 Tessier number 1-1 and 2-12 facial cleft Fenda facial paramediana Fente faciale paramédiane Gesichtsspalte, paramediane Hendidura facial paramediana Paramedian facial cleft Schisi facciale paramediana hrdo:pat_id_17086 neant Q35.9 155878 clinical subtype Fenda palatina submucosa Fente palatine submuqueuse Gaumenspalte, submuköse Hendidura submucosa del paladar Palatoschisi sottomucosale Submucosal cleft palate hrdo:pat_id_17088 neant Q10.3 155884 morphological anomaly Coloboma palpebral superior Coloboma palpebrale superiore Colobome palpébral supérieur Lidkolobom, superior Superior palpebral coloboma Coloboma da pálpebra superior Coloboma del párpado superior Coloboma della palpebra superiore Coloboma of superior eyelid Colobome de la paupière supérieure Kolobom des Oberlides hrdo:pat_id_17089 neant Q10.3 155889 morphological anomaly Coloboma palpebral inferior Coloboma palpebrale inferiore Colobome palpébral inférieur Inferior palpebral coloboma Lidkolobom, inferior Coloboma da pálpebra inferior Coloboma del párpado inferior Coloboma della palpebra inferiore Coloboma of inferior eyelid Colobome de la paupière inférieure Kolobom des Unterlides hrdo:pat_id_17090 155896 group of phenomes Displasia otomandibolare Displasia otomandibular Displasia otomandibular Dysplasie oto-mandibulaire Dysplasie, otomandibuläre Otomandibular dysplasia hrdo:pat_id_17091 D008342 10051456 neant Q75.4 155899 C0242387 group of phenomes Bilateral and symmetric oto-mandibular dysplasia Displasia oromandibular bilateral y simétrica Displasia otomandibolare bilaterale e simmetrica Displasia otomandibular bilateral y simétrica Dysplasie oto-mandibulaire bilatérale et symétrique Dysplasie, otomandibuläre, bilaterale und symmetrische Disostose mandibulofacial Disostosi mandibolofacciale Disóstosis mandibulofacial Dysostose mandibulo-faciale Dysostose, mandibulofaziale Mandibulofacial dysostosis hrdo:pat_id_17092 156005 group of phenomes Glaucoma primario Glaucoma primario Glaucoma primário Glaucome primitif Glaukom, primäres Primary glaucoma hrdo:pat_id_17093 D007640 10023353 neant H18.6 156071 65636009 C0022578 group of phenomes Cheratocono Keratoconus Keratokonus Kératocône Queratocono Queratoconos hrdo:pat_id_17095 156140 group of phenomes Predominantly large-vessel vasculitis Vascularite des vaisseaux de gros calibre Vasculite predominantemente dos grandes vasos Vasculitis de vasos grandes predominantemente Vasculitis, predominantly large-vessel Vaskulitis großer Gefäße hrdo:pat_id_17096 156143 group of phenomes Predominantly medium-vessel vasculitis Vascularite des vaisseaux de moyen calibre Vasculite predominantemente dos vasos médios Vasculitis de vasos medios predominantemente Vasculitis, predominantly medium-vessel Vaskulitis mittelgroßer Gefäße hrdo:pat_id_17097 156146 group of phenomes Predominantly small-vessel vasculitis Vascularite des vaisseaux de petit calibre Vasculite predominantemente dos pequenos vasos Vasculitis de vasos pequeños predominantemente Vasculitis, predominantly small-vessel Vaskulitis kleiner Gefäße hrdo:pat_id_17098 156149 group of phenomes Immune complex mediated vasculitis Vascularite à complexes immuns Vasculite mediada por complexos imunes Vasculitis complejo-mediada inmune Vasculitis, immune complex mediated Vaskulitis, Immunkomplex-vermittelte hrdo:pat_id_17099 D056648 156152 C2717865 group of phenomes AAV AAV AAV AAV AAV ANCA-associated vasculitis ANCA-assoziierte Vaskulitis Antineutrophil cytoplasmic antibody-associated vasculitis Vascularite associée aux ANCA Vascularite pauci-immune à ANCA Vasculite associata ad ANCA Vasculitis asociada a ANCA Anti-neutrophil cytoplasmic antibody-associated vasculitis Vascularite associée aux anticorps antineutrophiles cytoplasmiques Vasculite associada a anticorpos anti-neutrofilo citoplasmáticos (ANCA) Vasculite associata agli anticorpi anti-citoplasma nei neutrofili Vasculitis asociada a anticuerpos anticitoplasma de neutrófilo Vaskulitis mit assoziierten antineutrophilen zytoplasmatischen Antikörpern hrdo:pat_id_171 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%28dwarfism%5Btw%5D+OR+Nanism%5Btw%5D%29+AND+growth+hormone%5Bti%5D+AND+deficiency%5Btw%5D%29+OR+Pituitary+dwarfism%5Ball%5D E23.0 631 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Congenital IGHD Congenital isolated GH deficiency Congenital isolated growth hormone deficiency Deficit congenito dell'ormone della crescita isolato Deficiti congenito di GH isolato Déficit aislado congénito de GH Déficit aislado congénito de hormona del crecimiento Déficit congénital isolé en STH Déficit congénital isolé en hormone de croissance GH-Mangel, isolierter kongenitaler IGHD congenito IGHD congénito IGHD, kongenital Nanismo hipofisário Nanismo primário Wachstumshormonmangel, isolierter kongenitaler Deficit isolato dell'ormone della crescita non acquisito Déficit aislado no adquirido de hormona del crecimiento Insuffisance somatotrope non acquise isolée Nanismo por deficiência isolada de hormona do crescimento Nonacquired isolated growth hormone deficiency Wachstumshormonmangel, isolierter, nicht erworbener hrdo:pat_id_17100 156156 disease Lipoatrofia com diabetes, pápulas leucomelanodérmicas, esteatose hepática e miocardiopatia hipertrófica Lipoatrofia con diabetes, pápulas leucomelanodérmicas, esteatosis hepática y miocardiopatía hipertrófica Lipoatrophie avec diabète, papules leucomélanodermiques, stéatose hépatique et cardiomyopathie hypertrophique Lipoatrophie mit Diabetes - leukomelanodermale Papeln - Lebersteatose - hypertrophe Kardiomyopathie Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy hrdo:pat_id_17101 neant G24.1 156159 group of phenomes Distonia primária de torção Distonia pura Distonía pura Dystonie pure Dystonie, reine Pure dystonia hrdo:pat_id_17102 156162 group of phenomes Ciliopathie avec néphronophtise Ciliopatia associada a nefronoftise Ciliopatia associata a nefronoftisi Ciliopatía asociada a nefronoptisis Nephronophthisis-associated ciliopathy Ziliopathie, Nephronophthisis-assoziierte hrdo:pat_id_17103 156165 group of phenomes Ciliopathie rétinienne Ciliopatia retiniana Ciliopatia retinica Ciliopatía retinal Retinal ciliopathy Ziliopathie, retinale hrdo:pat_id_17104 156168 group of phenomes Ciliopatia retinica da mutazione del gene RP1 Ciliopatia retinica dovuta a mutazione del gene RP1 Retinal ciliopathy due to mutation in RP1 gene Ciliopathie rétinienne due à une mutation du gène retinitis pigmentosa-1 Ciliopatia retiniana por mutação no gene da retinite pigmentosa-1 (RP1) Ciliopatia retinica da mutazione del gene della retinite pigmentosa-1 Ciliopatía retinal debida a una mutación en el gen de la retinosis pigmentaria-1 Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene Ziliopathie, retinale, durch RP1 (retinitis pigmentosa-1)-Genmutation hrdo:pat_id_17105 156171 group of phenomes Ciliopathie rétinienne due à une mutation du gène RPGR Ciliopatia retiniana por mutação no gene RPGR Ciliopatia retinica da mutazione del gene di RPGR Ciliopatía retinal debida a una mutación en el gen RPGR Retinal ciliopathy due to mutation in the RPGR gene Ziliopathie, retinale, durch RPGR-Genmutation hrdo:pat_id_17106 156174 group of phenomes Ciliopathie rétinienne due à une mutation du gène RPGRIP Ciliopatia retiniana por mutação no gene RPGRIP Ciliopatia retinica da mutazione del gene di RPGRIP Ciliopatía retinal debida a una mutación en el gen RPGRIP Retinal ciliopathy due to mutation in the RPGRIP gene Ziliopathie, retinale, durch RPGRIP-Genmutation hrdo:pat_id_17107 156177 group of phenomes Ciliopathie rétinienne due à une mutation du gène Usher Ciliopatia retiniana por mutação no gene do síndrome de Usher Ciliopatia retinica da mutazione del gene di Usher Ciliopatía retinal debida a una mutación en el gen Usher Retinal ciliopathy due to mutation in Usher gene Ziliopathie, retinale, durch Mutationen im Usher-Gen hrdo:pat_id_17108 156180 group of phenomes Ciliopathie rétinienne due à une mutation du gène néphronophtise Ciliopatia retiniana por mutação no gene da nefronoptise Ciliopatia retinica da mutazione del gene della nefronoftisi Ciliopatía retinal debida a una mutación en el gen nefronoptisis Retinal ciliopathy due to mutation in nephronophthisis gene Ziliopathie, retinale, durch Mutationen im Nephronophthise-Gen hrdo:pat_id_17109 156183 group of phenomes Ciliopathie rétinienne due à une mutation du gène Bardet-Biedl Ciliopatia retiniana por mutação no gene de Bardet-Biedl Ciliopatia retinica da mutazione del gene di Bardet-Biedl Ciliopatía retinal debida a una mutación en el gen Bardet-Biedl Retinal ciliopathy due to mutation in Bardet-Biedl gene Ziliopathie, retinale, durch BBS-Genmutation hrdo:pat_id_17110 156202 group of phenomes Displasia oto-mandibolare associata a sindromi monogeniche Displasia otomandibular asociada con síndromes monogénicos Displasia otomandibular como parte de síndromes monogénicos Dysplasie oto-mandibulaire des syndromes monogéniques Dysplasie, otomandibuläre, mit assoziierten monogenetischen Syndromen Otomandibular dysplasia associated with monogenic syndromes hrdo:pat_id_17111 C531735 D008260 10025391 neant Q38.2 156207 270516002 C0009677 C0024421 group of phenomes Macroglosia Macroglossia Macroglossia Macroglossia Macroglossie Makroglossie hrdo:pat_id_17112 neant Q38.3 156212 group of phenomes Hipoglosia/aglosia Hipoglossia/aglossia Hypoglossia/aglossia Hypoglossie/Aglossie Hypoglossie/aglossie Ipoglossia/aglossia hrdo:pat_id_17113 156215 group of phenomes Oromandibular-limb anomalies syndrome Oromandibuläre Fehlbildung und Extremitätenanomalien Sindrome da anomalie oromandibolari e degli arti Syndrome oro-mandibulaire-anomalies des membres Síndrome de anomalía oromandibular y de las extremidades Síndrome oromandibular-anomalias dos membros hrdo:pat_id_17114 neant Q87.0 156224 group of phenomes Gesichtsfehlbildung, paralytische Malformación paralítica facial Malformation faciale paralytique Malformazione facciale paralitica Malformação com paralisia facial Paralytic facial malformation hrdo:pat_id_17115 neant Q27.3 156230 group of phenomes Arteriovenöse Fehlbildungen des Gesichts Facial arteriovenous malformation Malformación arteriovenosa facial Malformation artério-veineuse faciale Malformazione facciale arterovenosa Malformação facial arteriovenosa hrdo:pat_id_17116 156237 group of phenomes Sindromi e malformazioni associate a malformazioni ORL Sindromi e malformazioni associate a malformazioni otorino-laringoiatriche Syndrome or malformation associated with head and neck malformations Syndrome ou malformation associés à des malformations de la tête et du cou Syndrome und Fehlbildungen mit assoziierten Ohren-, Nasen- und Rachenfehlbildungen Síndrome/malformação associada com malformação dos pavilhões auriculares, nariz e garganta Síndromes y malformaciones asociados con oído, nariz y malformaciones de garganta hrdo:pat_id_17117 156243 group of phenomes Anomalia auricular e do canal auditivo externo Anomalie del padiglione e condotto uditivo esterno Anomalie du pavillon de l'oreille et conduit auditif externe Anomalía en el pabellón de la oreja y en el canal auditivo externo Ohrmuschel und äußerer Gehörgang, Anomalie Pinnae and external auditory canal anomaly hrdo:pat_id_17118 neant Q30 156246 group of phenomes Anomalia del naso e del cavo Anomalia do nariz e cavidade nasal Anomalie du nez et du cavum Anomalía de nariz y nasofaringe Nasen- und Nasenrachenraumanomalie Nose and cavum anomaly hrdo:pat_id_17119 neant Q31 156249 group of phenomes Anomalia da laringe Anomalia della laringe Anomalie du larynx Anomalía laríngea Larynx anomaly Larynx-Anomalie hrdo:pat_id_1712 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 219300 304200 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=%22Cutis+verticis+gyrata%22+mental+retardation 1557 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 McDowall syndrome McDowall, síndrome de Mcdowall-Syndrom Sindrome di McDowall Syndrome de McDowall Síndrome de McDowall Síndrome de Mcdowall Cutis verticis gyrata - atraso mental Cutis verticis gyrata - déficit intellectuel Cutis verticis gyrata - déficit mental Cutis verticis gyrata - geistige Retardierung Cutis verticis gyrata - intellectual deficit Cutis verticis gyrata - ritardo mentale hrdo:pat_id_17120 neant 156252 group of phenomes Luftröhrenanomalie Anomalia da traquéia Anomalia della trachea Anomalie de la trachée Anomalía traqueal Tracheal anomaly Trachealanomalie hrdo:pat_id_17121 156532 group of phenomes Rare syndrome with cardiac malformations Seltenes Syndrom mitHerzfehlbildungen Sindromi rare con malformazioni cardiache Syndrome rare avec malformations cardiaques Síndrome raro com malformações cardíacas Síndromes raros con malformaciones cardiacas hrdo:pat_id_17122 156601 group of phenomes Doença hepática genética Enfermedad hepática genética rara Leberkrankheit, genetische, seltene Maladie hépatique génétique rare Malattia epatica genetica Rare genetic hepatic disease hrdo:pat_id_17123 156604 group of phenomes Doença parenquimatosa do fígado, genética Enfermedad hepática parenquimatosa genética Genetic parenchymatous liver disease Leberkrankheit, parenchymatische, genetisch bedingte Maladie génétique du parenchyme hépatique Malattia epatica parenchimatosa genetica hrdo:pat_id_17124 156607 group of phenomes Doença do trato biliar, genética Enfermedad genética del tracto biliar Gallenwegskrankheit, genetisch bedingte Genetic biliary tract disease Maladie génétique du tractus biliaire Malattia genetica del tratto biliare hrdo:pat_id_17125 156610 group of phenomes Atemwegskrankeit, genetisch bedingte Doença respiratória genética Enfermedad genética respiratoria Maladie respiratoire génétique rare Malattia respiratoria genetica Rare genetic respiratory disease hrdo:pat_id_17128 156619 group of phenomes Anomalia urogenital genética Anomalia urogenitale genetica Anomalía genética urogenital Maladie uro-génitale génétique rare Rare genetic urogenital disease Urogenitale Anomalie, genetisch bedingte hrdo:pat_id_17129 156622 group of phenomes Genetic urogenital tract malformation Harnwegsfehlbildung, genetisch bedingte Malformación genética del tracto urogenital Malformation uro-génitale génétique Malformazione genetica del tratto urogenitale Malformação do trato urogenital, genética hrdo:pat_id_17131 156629 group of phenomes Genetic hypertension Hipertensión genética Hipertensão genética Hypertension artérielle génétique Hypertension, genetisch bedingte Ipertensione genetica hrdo:pat_id_17132 156638 group of phenomes Doença endócrina genética Endokrine Krankheit, genetisch bedingte Enfermedad genética endocrina Maladie endocrinienne génétique rare Malattia endocrina genetica Rare genetic endocrine disease hrdo:pat_id_17133 156643 group of phenomes Doença endócrina do crescimento, genética Enfermedad endocrina de crecimiento, genética Genetic endocrine growth disease Maladie endocrinienne génétique de la croissance Malattia endocrina della crescita, tipo genetico Wachstumsstörung, endokrine, genetisch bedingte hrdo:pat_id_17134 156723 disease Coste corte - craniosinostosi - polisindattilia Costillas cortas - craneosinostosis - polisindactilia Costillas pequeñas - craneosinostosis - polisindactilia Côtes courtes - craniosynostose - polysyndactylie Kurze Rippen - Kraniosynostose - Polysyndaktylie Short ribs - craniosynostosis - polysyndactyly Displasia de Piepkorn Displasia de Piepkorn Displasia di Piepkorn Dysplasie de Piepkorn Piepkorn dysplasia Piepkorn-Dysplasie hrdo:pat_id_17135 608728 neant Q77.7 156728 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SEMD type MATN3 SEMD type matrilin-3 SEMD, MATN3-related SEMD, matrilin-3 type SEMD, tipo MATN3 SEMD, tipo matrilin-3 Displasia espondiloepimetafisaria, tipo matrilina-3 Displasia espondiloepimetafisária, tipo Matrilin Displasia spondiloepimetafisaria, tipo matrilin-3 Dysplasie spondyloépimethaphysaire type matrilin-3 Spondyloepimetaphyseal dysplasia, matrilin-3 type Spondyloepimetaphysäre Dysplasie, MATN3-Gen-assoziierte hrdo:pat_id_17136 224400 C537999 neant Q77.7 156731 95243004 C0432209 disease Displasia disegmentaria tipo Rolland-Desbuquois Displasia dissegmentar, tipo Rolland-Desbuquois Displasia dissegmentaria, tipo Rolland-Desbuquois Dysplasie dyssegmentaire type Rolland-Desbuquois Dysplasie, dyssegmentale, Typ Rolland-Desbuquois Dyssegmental dysplasia, Rolland-Desbuquois type hrdo:pat_id_17137 Variabel Variabile Variable Variable Variable Variable Variável 241530 neant E83.3 157215 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 HHRH HHRH HHRH HHRH HHRH Hereditary hypophosphatemic rickets with hypercalciuria Rachitis, hypophosphatämische, mit Hyperkalziurie Rachitisme hypophosphatémique héréditaire avec hypercalciurie Rachitismo ipofosfatemico ereditario con ipercalciuria Raquitismo hipofosfatémico com hipercalciúria Raquitismo hipofosfatémico hereditario con hipercalciuria hrdo:pat_id_17139 603896 neant E75.2 157713 clinical subtype CACH-Syndrom, kongenitales oder früh-infantile Form Congenital or early infantile CACH syndrome Sindrome CACH, forma congenita o precoce dell'infanzia Syndrome CACH congénitale ou infantile à début précoce Síndrome CACH congénito ou infantil precoce Síndrome CACH, congénito o aparición en infancia temprana hrdo:pat_id_17140 603896 neant E75.2 157716 clinical subtype CACH-Syndrom, spät-infantile Form Late infantile CACH syndrome Sindrome CACH, forma tarda dell'infanzia Syndrome CACH infantile tardif Síndrome CACH infantil tardio Síndrome CACH, aparición en infancia tardía hrdo:pat_id_17141 603896 neant E75.2 157719 clinical subtype CACH-Syndrom, juvenile oder adulte Form Juvenile or adult CACH syndrome Sindrome CACH, forma giovanile o adulta Syndrome CACH juvénile ou de l'adulte Síndrome CACH juvenil ou do adulto Síndrome CACH, forma adulta o juvenil hrdo:pat_id_17142 601086 605376 606325 613751 614779 10059119 neant Q89.3 157769 14821001 C0266642 C1167664 morphological anomaly Incomplete situs inversus Partial situs inversus Situs ambiguo Situs ambiguous Situs ambiguous Situs ambiguous Situs inverse Situs inversus incomplet Situs inversus incompleto Situs inversus incompleto Situs inversus parcial Situs inversus partiel Situs inversus parziale Situs inversus, inkompletter Situs inversus, partieller Situs ambigus Situs ambiguus Situs ambiguus Situs ambiguus Situs ambiguus Situs ambiguus hrdo:pat_id_17143 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 603463 neant Q87.0 157788 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hipospadias - hipertelorismo - coloboma y sordera Hipóspadias - hipertelorismo - coloboma - surdez Hypospadias-hypertelorism-coloboma and deafness Hypospadias-hypertélorisme-colobome et surdité Hypospadie - Hypertelorismus - Kolobom - Schwerhörigkeit Ipospadia - ipertelorismo - coloboma - sordità hrdo:pat_id_17144 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D018323 neant D18.0 157791 403981003 84290008 C0206732 disease Emangioendotelioma epitelioide Epithelioid hemangioendothelioma Hemangioendotelioma epitelioide Hemangioendotelioma epitelióide Hämangioendotheliom, epitheloides Hémangioendothéliome épithélioïde hrdo:pat_id_17145 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 601228 610069 neant D12.6 157794 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Hereditary mixed polyposis syndrome Polypose mixte héréditaire Polyposis-Syndrom, gemischtes, hereditäres Sindrome ereditaria da poliposi mista Síndrome com polipose mista, hereditário Síndrome de poliposis mixta hereditaria hrdo:pat_id_17146 175020 neant D12.6 157798 disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Hyperplastic polyposis syndrome Polypose hyperplasique Polyposis-Syndrom, hyperplastisches Sindrome da poliposi iperplastica Síndrome com polipose hiperplástica Síndrome de poliposis hiperplástico hrdo:pat_id_17147 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 609432 neant Q70 157801 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo morphological anomaly <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 MSSD MSSD MSSD MSSD Sindactilia de tipo 9 Sindactilia de tipo Malik-Percin Sindattilia, tipo 9 Sindattilia, tipo Malik-Percin Syndactylie type 9 Syndactylie type Malik-Percin Syndactyly type 9 Syndactyly, Malik-Percin type Syndaktylie Typ 9 Syndaktylie Typ Malik-Percin Mesoaxial synostotic syndactyly with phalangeal reduction Mesoaxiale synostotische Syndaktylie mit phalangealer Reduktion Sindactilia mesoaxial sinostótica con reducción de las falanges Sindactilia sinostótica mesoaxial com redução das falanges Sindattilia sinostosica mesoassiale con riduzione delle falangi Syndactylie méso-axiale synostosique avec réduction phalangienne hrdo:pat_id_17148 609143 neant Q74.2 157808 morphological anomaly Congenital pseudoarthrosis of the leg Pseudoarthrose congénitale de la jambe Pseudoarthrose der Beine, kongenitale Pseudoartritis congénita de la pierna Pseudoartrose da perna, congénita Pseudoartrosi congenita della gamba hrdo:pat_id_17149 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 272430 610313 neant G60.8 157820 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CISS CISS CISS CISS CISS Cold-induced sweating syndrome Kälteinduziertes Schwitzen Sindrome della sudorazione indotta dal freddo Syndrome de la transpiration induite par le froid Síndrome de sudoración inducida por frío Síndrome do suor induzido pelo frio hrdo:pat_id_1715 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis 166705 C536061 1562 C1833698 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Gunal-Seber-Basaran syndrome Gunal-Seber-Basaran, síndrome de Gunal-Seber-Basaran-Syndrom Sindrome di Gunal-Seber-Basaran Syndrome de Gunal-Seber-Basaran Síndrome de Gunal-Seber-Basaran Síndrome de Gunal-Seber-Basaran Dacriocistite - osteopoichilosi Dacriocistite - osteopoiquilose Dacriocistitis - osteopoiquilosis Dacryocystite - ostéopoïkilose Dacryocystitis - osteopoikilosis Dakryozystitis - Osteopoikilose hrdo:pat_id_17150 D020232 10066431 157823 C0270707 disease Klüver-Bucy syndrome Klüver-Bucy-Syndrom Sindrome di Klüver-Bucy Syndrome de Klüver-Bucy Síndrome de Klüver-Bucy Síndrome de Klüver-Bucy hrdo:pat_id_17151 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 157826 disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Congenital gingival cell tumor Congenital granular cell tumor Granularzelltumor, kongenitaler Tumeur gingivale à cellules granuleuses congénitale Tumor de células gingivales congénito Tumor de células granulares congénito Tumor gingival congénito Tumore congenito delle cellule gengivali Tumore congenito delle cellule granulari Congenital epulis Epulide congenita Epulis congénital Epulis congénito Epulis, congénita Epulis, kongenitale hrdo:pat_id_17152 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 123050 neant Q30.8 157832 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Craniorhinie Craniorhiny Craniorinia Craniorinia Craniorrinia Kraniorhinie hrdo:pat_id_17153 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D051302 10019461 neant G44.8 157835 443094001 C1399352 disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Emicrania parossistica Hemicranea paroxística Hemicrania paroxística Hemikranie, paroxysmale Hémicranie paroxystique Paroxysmal hemicrania hrdo:pat_id_17154 D051303 neant G44.8 157843 C1565172 disease Cefalalgia autonomico-trigeminale Cefalalgia autonónimca do trigémio Cefalalgia trigémino-autonómica Céphalée trigémino-autonomique Trigeminal autonomic cephalalgia Trigeminoautonome Kopfschmerzen hrdo:pat_id_17155 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 606159 C548080 neant G23.0 157846 C1853578 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Adult basal ganglia disease Basalganglien-Erkrankungen, adulte Enfermedad de los ganglios del adulto Ferritin-abhängige Neurodegeneration Ferritin-related neurodegeneration Ferritinopathie héréditaire Ferritinopathie, hereditäre Ferritinopatia ereditaria Ferritinopatía hereditaria Hereditary ferritinopathy Malattia dei gangli basali a esordio nell'età adulta Neurdégénérescence associée à la ferritine Neurodegeneración relacionada con la ferritina Neurodegenerazione legata alla ferritina Neuroferritinopathie Neuroferritinopathie Neuroferritinopathy Neuroferritinopatia Neuroferritinopatia Neuroferritinopatía hrdo:pat_id_17156 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 234200 D006211 neant G23.0 157850 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Hallervorden-Spatz syndrome Hallervorden-Spatz-Syndrom NBIA1 NBIA1 NBIA1 NBIA1 NBIA1 Neurodegeneración con acúmulo cerebral de hierro tipo 1 Neurodegeneration mit Eisenspeicherung im Gehirn Typ 1 Neurodegeneration with brain iron accumulation type 1 Neurodegenerazione con deposito cerebrale di ferro, tipo 1 Neurodégénérescence avec surcharge cérébrale en fer de type 1 PKAN PKAN PKAN PKAN PKAN Sindrome di Hallervorden-Spatz Syndrome de Hallervorden-Spatz Síndrome de Hallervorden-Spatz Neurodegeneración asociada a pantotenato-quinasa Neurodegenerazione associata a pantotenato-chinasi Neurodegenerescência associada à pantotenato quinase Neurodégénérescence associée à un déficit en panthoténate-kinase Pantothenat-Kinase-assoziierte Neurodegeneration Pantothenate-kinase-associated neurodegeneration hrdo:pat_id_17157 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 607236 neant G23.0 157855 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hipoprebetalipoproteinemia - acantocitosis - retinitis pigmentosa - degeneración del pálido Hipoprebetalipoproteinemia - acantocitosis - retinosis pigmentaria - degeneración palidal Hypoprebetalipoproteinemia - acanthocytosis - retinitis pigmentosa - pallidal degeneration Hypopräbetalipoproteinämie - Akanthozytose - Retinitis pigmentosa - Pallidumdegeneration Hypoprébétalipoprotéinémie - acanthocytose - rétinite pigmentaire - dégénérescence du globus pallidus Ipoprebetalipoproteinemia - acantocitosi - retinite pigmentosa - degenerazione pallidale HARP syndrome HARP syndrome HARP-Syndrom Sindrome HARP Síndrome de HARP Síndrome de HARP hrdo:pat_id_17158 157938 disease Doença de Joker Enfermedad de Joker Joker disease Joker disease Joker disease Maladie joker hrdo:pat_id_17159 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 603218 neant 157941 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Early onset prion disease with prominent psychiatric features Enfermedad priónica con aparición temprana de manifestaciones psiquiátricas destacadas HDL1 HDL1 HDL1 HDL1 Maladie à prion à début précoce et signe psychiatrique prédominant Malattia da prioni a esordio precoce con prominenza dei segni psichiatrici Chorea Huntington-ähnliche Krankheit 1 Doença de Huntington-like 1 Enfermedad de Huntington-like 1 Huntington disease-like 1 Maladie de Huntington-like 1 Malattia Huntington-simile 1 hrdo:pat_id_1716 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 247410 C535769 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=lymphedema%5Bti%5D+hypoparathyroidism%5Bti%5D 1563 C1855477 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Linfedema - hipoparatiroidismo, síndrome de Linfedema - ipoparatiroidismo Lymphedema - hypoparathyroidism Lymphoedème - hypoparathyroïdisme Lymphödem mit Hypoparathyreoidismus Síndrome de linfedema - hipoparatiroidismo Dahlberg-Borer-Newcomer syndrome Dahlberg-Borer-Newcomer-Syndrom Sindrome di Dahlberg-Borer-Newcomer Syndrome de Dahlberg-Borer-Newcomer Síndrome de Dahlberg-Borer-Newcomer Síndrome de Dahlberg-Borer-Newcomer hrdo:pat_id_17160 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 604802 neant 157946 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 HDL3 HDL3 HDL3 HDL3 Chorea Huntington-ähnliche Krankheit 3 Doença de Huntington-like 3 Enfermedad de Huntington-like 3 Huntington disease-like 3 Maladie de Huntington-like 3 Malattia Huntington-simile 3 hrdo:pat_id_17161 233650 neant D81.1 157949 disease CID due to RAG 1/2 deficiency CID par déficit en RAG 1/2 Combined immunodeficiency due to RAG 1/2 deficiency DIC oar déficit en RAG 1/2 Deficiencia combinada celular y humoral y múltiples granulomas Deficit cellulari e umorali combinati e granulomi multipli Déficit immunitaire combiné par déficit en RAG1/2 Déficits celular y humoral combinados con granulomas múltiples Déficits combinés de l'immunité humorale et cellulaire avec granulomes multiples Kombinierte zelluläre/humorale Abwehrschwäche und multiple Granulome Combined immunodeficiency with skin granulomas Déficit immunitaire combiné avec granulomes cutanés Immundefekt, primärer, mit Hautgranulomen Immunodeficienza primitiva con granulomi cutanei Imunodeficiência primária com granulomas da pele Inmunodeficiencia primaria con granulomas en la piel hrdo:pat_id_17162 612079 neant 157954 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Alopecia - defecto neurológico progresivo - endocrinopatía Alopecia - difetto neurologico progressivo - endocrinopatia Alopecia - progressive neurological defect - endocrinopathy Alopezie - progressiver neurologischer Defekt - Endokrinopathie Alopécie - trouble neurologique progressif - endocrinopathie ANE syndrome ANE-Syndrom Sindrome ANE Syndrome ANE Síndrome ANE Síndrome ANE hrdo:pat_id_17163 612109 neant Q87.8 157962 malformation syndrome Oculoauricular syndrome, Schorderet type Okuloaurikuläres Syndrom Typ Schorderet Sindrome oculoauriculare, tipo Schorderet Syndrome oculo-auriculaire type Schorderet Síndrome oculoauricular tipo Schorderet Síndrome oculoauricular, tipo Schorderet hrdo:pat_id_17164 612350 neant Q79.6 157965 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 EDS type spondylocheiro dysplasique EDS, spondylocheiro dysplastic type EDS, tipo spondilo-cheiro-displasica SED type spondylocheiro dysplasique SED, tipo displásico espondiloqueiral Ehlers-Danlos syndrome, spondylocheiro dysplastic type Ehlers-Danlos-Syndrom, spondylo-cheiro dysplastische Form Sindrome di Ehlers-Danlos, tipo spondilo-cheiro-displasica Syndrome d'Ehlers-Danlos type spondylocheiro dysplasique Síndrome de Ehlers-Danlos, forma displásica espondiloqueirótica Síndrome de Ehlers-Danlos, tipo displásico espondiloqueiral hrdo:pat_id_17166 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613205 neant G71.2 157973 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Distrofia muscolare congenita legata a LMNA Distrofia muscular congénita relacionada con LMNA Dystrophie musculaire congénitale liée à LMNA L-CMD L-CMD L-CMD L-CMD L-CMD LMNA-abhängige kongenitale Muskeldystrophie LMNA-related congenital muscular dystrophy Congenital muscular dystrophy due to LMNA mutation Distrofia muscolare congenita da mutazione di LMNA Distrofia muscular congénita por mutación en el gen LMNA Distrofia muscular congénita relacionada com laminopatia Dystrophie musculaire congénitale dû à une mutation de LMNA Muskeldystrophie, kongenitale, durch Lamin-A/C-Mangel hrdo:pat_id_17167 109800 10005003 neant D09.0 157980 disease Bladder cancer Blasenkrebs Cancer de la vessie Cancro da bexiga Cancro della vescica Cáncer de vejiga hrdo:pat_id_17169 D015616 neant D76.3 157987 C0019624 group of phenomes Histiocitose de células não-Langerhans Histiocitosis de células no Langerhans Histiocytose non-Langerhansienne Istiocitosi delle cellule non Langerhans Nicht-Langerhans-Zell-Histiozytose Non-Langerhans cell histiocytosis hrdo:pat_id_17170 neant D76.3 157991 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Generalized eruptive histiocytoma Histiocitoma eruptivo generalizado Histiocytome éruptif généralisé Histiozytom, eruptives generalisiertes Istiocitoma generalizzato eruttivo Generalized eruptive histiocytosis Histiocitose generalizada eruptiva Histiocitosis eruptiva generalizada Histiocytose éruptive généralisée Histiozytose, eruptive generalisierte Istiocitosi generalizzata eruttiva hrdo:pat_id_17171 neant D76.3 157997 255192005 C0347403 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Benign cephalic histiocytosis Histiocitoma cefálico benigno Histiocitosis cefálica benigna Histiocytose céphalique bénigne Histiozytose, benigne zephale Istiocitosi cefalica benigna hrdo:pat_id_17172 D014972 neant D76.3 158000 400031009 400204000 C0043324 disease Juvenile xanthogranuloma Xanthogranulom, juveniles Xanthogranulome juvénile Xantogranuloma giovanile Xantogranuloma juvenil Xantogranuloma juvenil hrdo:pat_id_17173 neant D76.3 158003 399970005 C0043322 disease Montgomery syndrome Montgomery-Syndrom Sindrome di Montgomery Syndrome de Montgomery Síndrome de Montgomery Xanthoma disseminatum Xanthoma disseminatum Xanthoma disseminatum Xanthome disséminé Xantoma diseminado Xantoma disseminado hrdo:pat_id_17174 neant D76.3 158008 disease Papular xanthoma Xanthom, papuläres Xanthome papuleux Xantoma papular Xantoma papular Xantoma papulare hrdo:pat_id_17175 D058252 neant D76.3 158011 404164003 C1275339 disease Necrobiotic xanthogranuloma Xanthogranulom, nekrobiotisches Xanthogranulome nécrobiotique Xantogranuloma necrobiotico Xantogranuloma necrobiótico Xantogranuloma necrobiótico hrdo:pat_id_17176 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 602782 neant D76.3 158014 34287003 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Destombes-Rosaï-Dorfman disease Destombes-Rosaï-Dorfman-Krankheit Enfermedad de Destombes-Rosaï-Dorfman Enfermedad de Rosaï-Dorfman Enfermedad de Rosaï-Dorfman-Destombes HSLM Histiocitosis sinusal con linfadenopatía masiva Histiocytose sinusale avec lymphadénopathie massive Maladie de Destombes-Rosaï-Dorfman Maladie de Rosaï-Dorfman-Destombes Malattia di Destombes-Rosaï-Dorfman Malattia di Rosaï-Dorfman Malattia di Rosaï-Dorfman-Destombes Rosaï-Dorfman-Destombes disease Rosaï-Dorfman-Krankheit SHML SHML SHML SHML SHML Sinus histiocytosis with massive lymphadenopathy Enfermedad de Rosaï-Dorfman Histiocitose sinusal com linfadenopatia maciça Istiocitosi sinusale associata a linfoadenopatia massiva Maladie de Rosaï-Dorfman Rosaï-Dorfman disease Sinushistiozytose mit massiver Lymphadenopathie hrdo:pat_id_17177 neant D76.3 158019 disease Histiocitose de células não-determinadas Histiocitosis de células indeterminadas Histiocytose à cellule indeterminée Histiozytose der indeterminierten Zelle Indeterminate cell histiocytosis Istiocitosi a cellule indeterminate hrdo:pat_id_17178 neant D76.3 158022 disease Histiocitose progressiva nodular Histiocitosis progresiva nodular Histiocytose progresive nodulaire Histiozytose, progressive, noduläre Istiocitosi nodulare progressiva Progressive nodular histiocytosis hrdo:pat_id_17179 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 142630 neant D76.3 158025 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hereditary progressive mucinous histiocytosis Histiocitose progressiva mucinosa hereditária Histiocitosis progresiva mucinosa hereditaria Histiocytose progressive mucineuse héréditaire Histiozytose, progressive, muzinöse, hereditäre Istiocitosi progressiva ereditaria delle mucose hrdo:pat_id_1718 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 220220 C535771 neant Q87.8 1566 C1857351 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dandy-Walker - polydactylie postaxiale Dandy-Walker malformation - postaxial polydactyly Dandy-Walker-Malformation - postaxiale Polydaktylie Malformación de Dandy-Walker - polidactilia postaxial Malformação de Dandy-Walker - polidactilia pós-axial Polidattilia postassiale di Dandy Walker hrdo:pat_id_17180 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 269600 neant D76.3 158029 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Histiocitose azul-marinho Histiocitosis azul marino Histiocytose bleu de mer Histiozytose, seeblaue Istiocitosi ''blu mare'' Sea-blue histiocytosis hrdo:pat_id_17181 158032 127069007 group of phenomes HLH HLH HLH HLH HLH Hemophagocytic lymphohistiocytosis Linfohistiocitosis hemofagocítica Linfoistiocitosi emofagocitica Lymphohistiocytose hémophagocytaire Lymphohistiocytose hémophagocytique Lymphohistiozytose, hämophagozytische Hemophagocytic syndrome Hämophagozytisches Syndrom Sindrome emofagocitica Syndrome hémophagocytaire Síndrome hemofagocítico Síndrome hemofagocítico hrdo:pat_id_17182 158038 group of phenomes Genetic hemophagocytic lymphohistiocytosis Linfohistiocitosis hemofagocítica genética Linfoistiocitosi emofagocitica genetica Lymphohistiocytose hémophagocytaire génétique Lymphohistiozytose, hämophagozytische, genetisch bedingte Linfo-histiocitose hemofagocítica primária Linfohistiocitosis hemofagocítica primaria Linfoistiocitosi emofagocitica primaria Lymphohistiocytose hémophagocytaire primaire Lymphohistiozytose, hämophagozytische, primäre Primary hemophagocytic lymphohistiocytosis hrdo:pat_id_17183 158041 group of phenomes Acquired hemophagocytic lymphohistiocytosis Hämophagozytisches Syndrom, reaktives Linfohistiocitosis hemofagocítica adquirida Linfoistiocitosi emofagocitica acquisita Lymphohistiocytose hémophagocytaire acquis Lymphohistiozytose, hämophagozytische, erworbene Reactive hemophagocytic syndrome Sindrome emofagocitica reattiva Syndrome hémophagocytaire réactionnel Síndrome hemofagocítico reactivo Linfo-histiocitose hemofagocítica secundária Linfohistiocitosis hemofagocítica secundaria Linfoistiocitosi emofagocitica secondaria Lymphohistiocytose hémophagocytaire secondaire Lymphohistiozytose, hämophagozytische, sekundäre Secondary hemophagocytic lymphohistiocytosis hrdo:pat_id_17184 158048 190959006 particular clinical situation in a disease or syndrome Hämophagozytisches Syndrom, Viren-assoziiertes Hémophagocytaire, syndrome, viro-induit IAHS IAHS IAHS IAHS SHAI SHAV Sindrome emofagocitica associata a virus Syndrome hémophagocytaire viro-induit Síndrome hemofagocítico asociado a virus VAHS VAHS VAHS VAHS Virus-associated hemophagocytis syndrome Hemophagocytic syndrome associated with an infection Hämophagozytisches Syndrom, infektionsbedingtes Sindrome emofagocitica associata a infezione Syndrome hémophagocytaire associé à une infection Síndrome hemofagocítico asociado a infección Síndrome hemofagocítico associado a infecção hrdo:pat_id_17185 158057 particular clinical situation in a disease or syndrome Acquired hemophagocytic lymphohistiocytosis associated with a malignant disease Linfo-histiocitose hemofagocítica adquirida, associada a doença maligna, adquirida Linfohistiocitosis hemofagocítica asociada a enfermedad maligna, adquirida Linfoistiocitosi emofagocitica associata a malattia maligna acquisita Lymphohistiocytose hémophagocytaire acquise associée à une maladie maligne Lymphohistiozytose, hämophagozytische, erworbene, mit assoziierter maligner Krankheit hrdo:pat_id_17186 D055501 10053867 158061 430478003 C1096155 particular clinical situation in a disease or syndrome Macrophage activation syndrome Makrophagen-Aktivierungssyndrom (MAS) Sindrome da attivazione dei macrofagi Syndrome d'activation macrophagique Síndrome de activación macrofágica Síndrome de activação macrofágica hrdo:pat_id_17191 158124 group of phenomes Demencia, genética Demenz, genetisch bedingte Demenza genetica Demência genética Démence génétique Genetic dementia hrdo:pat_id_17192 158266 group of phenomes Chorea Huntington-Phänokopie-Syndrom Huntington disease phenocopy syndrome Chorea Huntington-ähnliches Syndrom Doença de Huntington-like Huntington disease-like syndrome Sindrome pseudo-Huntington Syndrome pseudo-Huntington Síndrome Huntington like hrdo:pat_id_17193 158300 group of phenomes Doença hematológica genética Enfermedad hematológica genética Hämatologische Krankheit, genetisch bedingte Maladie hématologique génétique rare Malattia ematologica genetica Rare genetic hematologic disease hrdo:pat_id_172 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 246200 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Leprechaunism%5Btw%5D+OR+%28hyperinsulin*%5Btw%5D+AND+%28Receptor%2CInsulin/deficiency+OR+%28Insulin+receptor%5Ball%5D+AND+deficiency%5Btw%5D%29%29%29 E34.8 508 111307005 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Donohue syndrome Donohue, síndrome de Donohue-Syndrom Sindrome di Donohue Syndrome de Donohue Síndrome de Donohue Síndrome de Donohue Leprecaunismo Leprechaunism Leprechaunismo Leprechaunismo Leprechaunismus Lepréchaunisme hrdo:pat_id_1720 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 304340 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Dandy+Walker%5Btw%5D+Basal+ganglia%5Btw%5D+Mental+retardation,+X-linked+Seizures Q23.8 1568 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Déficit intelectual ligado al X - malformación de Dandy-Walker - enfermedad de los ganglios basales - convulsiones Déficit intellectuel lié à l'X - malformation de Dandy-Walker - anomalies des ganglions de la base - convulsions Geistige Retardierung, X-chromosomale - Dandy-Walker-Malformation - Basalganglienkrankheit - Krämpfe Intellectual deficit, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures Ritardo mentale legato all'X - malformazione di Dandy-Walker - malattia dei gangli basali - convulsioni Síndrome de Dandy-Walker, ligado ao X, recessivo hrdo:pat_id_1721 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 278800 C535992 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=sanctis+cacchione%5Btw%5D 1569 414673004 C0265201 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Xeroderma pigmentosum avec manifestations neurologiques Xeroderma pigmentosum mit neurologischen Manifestationen Xeroderma pigmentosum with neurologic manifestation De Sanctis-Cacchione syndrome De Sanctis-Cacchione-Syndrom Sindrome di De Sanctis-Cacchione Syndrome de De Sanctis-Cacchione Síndrome de De Sanctis-Cacchione Síndrome de De Sanctis-Cacchione hrdo:pat_id_1722 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 267750 608454 C537209 neant Q15.8 1571 C1849409 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Desprendimiento de retina encefalocele occipital Distacco della retina - encefalocele occipitale Décollement de la rétine - encéphalocèle occipital Knobloch-Layer syndrome Knobloch-Layer, síndrome de Knobloch-Layer-Syndrom Netzhautablösung - okzipitale Enzephalozele Retinal detachment - occipital encephalocele Sindrome di Knobloch-Layer Syndrome de Knobloch-Layer Síndrome de Knobloch-Layer Descolamento da retina - encefalocelo occipital Knobloch syndrome Knobloch-Syndrom Sindrome di Knobloch Syndrome de Knobloch Síndrome de Knobloch hrdo:pat_id_1723 121270 C535468 neant E83.0 1551 C1852576 disease Deficiencia de cobre familiar benigna Deficit familiare benigno di rame Deficiência familiar benigna de cobre Déficit familial bénin en cuivre Familial benign copper deficiency Kupfermangel, benigner familiärer hrdo:pat_id_17230 neant Q81.0 158661 group of phenomes Epidermolisis bullosa simple suprabasal Epidermolisi bollosa semplice soprabasale Epidermolisis ampollosa simple suprabasal Epidermolyse bulleuse simple suprabasale Epidermolysis bullosa simplex, suprabasale Epidermólise bolhosa simples suprabasal Suprabasal epidermolysis bullosa simplex hrdo:pat_id_17231 neant Q81.0 158665 group of phenomes Epidermolisis bullosa simple basal Basal epidermolysis bullosa simplex Epidermolisi bollosa semplice basale Epidermolisis ampollosa simple basal Epidermolyse bulleuse simple basale Epidermolysis bullosa simplex, basale Epidermólise bolhosa simples basal hrdo:pat_id_17232 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 604536 C536183 neant Q81.0 158668 C1858302 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Dysplasie ectodermique - fragilité cutanée Ectodermal dysplasia - skin fragility syndrome McGrath syndrome Syndrome de McGrath Síndrome de McGrath Síndrome de displasia ectodérmica - fragilidad de la piel Deficit di placofilina Deficiência de placofilina Epidermolyse bulleuse simplex due à un déficit en Plakophiline Epidermolysis bullosa simplex due to plakophilin deficiency Epidermólisis ampollosa simple debida a un déficit de placofilina Plakophilin-Mangel hrdo:pat_id_17233 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q81.2 158673 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 DEB, acral DEB-ac EBD acrale Acral dystrophic epidermolysis bullosa Epidermolisi bollosa distrofica acrale Epidermolisis bullosa, distrófica, acra Epidermolyse bulleuse dystrophique acrale Epidermolysis bullosa, dystrophe, akrale Form Epidermólise bolhosa distrófica das extremidades hrdo:pat_id_17234 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q81.2 158676 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 DEB-na EBD isolée des ongles Nails-only DEB Dystrophic epidermolysis bullosa, nails only Epidermolisi bollosa distrofica esclusivamente ungueale Epidermolisis bullosa, distrófica, sólo ungueal Epidermolyse bulleuse dystrophique isolée des ongles Epidermolysis bullosa, dystrophe (nur Nägel) Epidermólise bolhosa distrófica das unhas hrdo:pat_id_17235 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 609352 neant Q81.0 158681 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown EBS-migr EBS-migr EBS-migr EBS-migr Epidermolisis bullosa simple con eritema migratorio circinado Epidermolisi bollosa semplice con eritema migrante circinato Epidermolisis ampollosa simple con eritema migratorio circinado Epidermolyse bulleuse simple avec érythème circiné migratoire Epidermolysis bullosa simplex mit migratorischem Erythem Epidermolysis bullosa simplex with circinate migratory erythema Epidermólise bolhosa simples com eritema migratório circinado hrdo:pat_id_17236 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 612138 neant Q81.0 158684 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown EBS-PA EBS-PA EBS-PA Epidermolisi bollosa semplice con atresia pilorica Epidermolisis ampollosa simple con atresia pilórica Epidermolyse bulleuse simple avec atrésie pylorique Epidermolysis bullosa simplex mit Pylorusatresie Epidermolysis bullosa simplex with pyloric atresia Epidermólise bolhosa simples - atresia do piloro hrdo:pat_id_17237 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 609638 C535493 neant Q81.0 158687 C1864826 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Epidermólisis bullosa acantolítica letal LAEB LAEB LAEB LAEB Epidermolisi bollosa acantolitica letale Epidermolyse bulleuse létale acantholytique Epidermolysis bullosa, akantholytische letale Epidermólise bolhosa acantolítica letal Epidermólisis ampollosa acantolítica letal Lethal acantholytic epidermolysis bullosa hrdo:pat_id_17238 158766 clinical subtype Orticaria pigmentosa tipica Typical urticaria pigmentosa Urticaire pigmentaire typique Urticaria pigmentosa, típica Urticária pigmentosa típica Urtikaria pigmentosa, typische hrdo:pat_id_17239 158769 clinical subtype Orticaria pigmentosa a placche Plaque-form urticaria pigmentosa Urticaire pigmentaire en plaques Urticaria pigmentosa, en placas Urticária pigmentosa, forma de placa Urtikaria pigmentosa, plaqueförmige hrdo:pat_id_17240 158772 clinical subtype Nodular urticaria pigmentosa Orticaria pigmentosa nodulare Urticaire pigmentaire nodulaire Urticaria pigmentosa, nodular Urticária pigmentosa nodular Urtikaria pigmentosa, noduläre hrdo:pat_id_17241 158775 clinical subtype Mastocitose sistémica do lactente Mastocitosi sistemica "smouldering" Mastocitosis sistémica con quemazón Mastocytose systémique type smouldering Smouldering systemic mastocytosis Smouldering systemische Mastozytose (SSM) hrdo:pat_id_17242 158778 clinical subtype Isolated bone marrow mastocytosis Knochenmarksmastozytose, isolierte (BMM) Mastocitose da medula óssea, isolada Mastocitosi isolata del midollo osseo Mastocitosis de la médula ósea, aislada Mastocytose isolée de la moëlle épinière hrdo:pat_id_17247 158793 clinical subtype Lymphoadenopathic mastocytosis with eosinophilia Mastocitose linfoadenopática com eosinofilia Mastocitosi sistemica associata a eosinofilia Mastocitosis linfoadenopática con eosinofilia Mastocytose lymphoadénopathique avec éosinophiles Mastozytose, lymphoadenopathische, mit Eosinophilie hrdo:pat_id_17248 158796 disease Classic mast cell leukemia Leucemia dos mastócitos, clássica Leucemia mastocitaria classica Leucemia mastocítica clásica Leucémie mastocytaire classique Mastzellleukämie, klassische hrdo:pat_id_17249 158799 disease Aleukemic mast cell leukemia Leucemia dos mastócitos, variante aleucénica Leucemia mastocitaria, variante aleucemica Leucémie mastocytaire aleucémique Mastzellleukämie, aleukämische Variante Variante aleucémica de la leucemia mastocítica hrdo:pat_id_1725 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 233805 neant E88.1 1979 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency Deficiencia combinada de insulina, factor de crecimiento insulímico tipo 1 (IGF1) y factor de crecimiento epidérmico (EGF) Deficit combinato di insulina, fattore di crescita epidermico (EGF), fattore 1 di crescita insulino-simile (IGF1) Déficit combiné en insuline, facteur de croissance IGF1, facteur de croissance épidermique EGF Hoepffner-Dreyer-Reimers syndrome Hoepffner-Dreyer-Reimers, síndrome de Hoepffner-Dreyer-Reimers-Syndrom Kombinierter Mangel an Insulin, IGF1 (insulin-like growth factor 1) und EGF (epidermal growth factor) Sindrome Werner-simile da deficit combinato di fattore di crescita Sindrome di Hoepffner-Dreyer-Reimers Syndrome de Hoepffner-Dreyer-Reimers Syndrome de type Werner dû à un déficit en facteurs de croissance Síndrome de Hoepffner-Dreyer-Reimers Síndrome de Hoepffner-Dreyer-Reimers Síndrome de tipo Werner debido a deficiencia combinada de factores de crecimiento Werner-like syndrome due to combined growth factor deficiency Werner-ähnliches Syndrom durch kombinierten Wachstumsfaktormangel Deficiência de fatores de crecimento peptídicos Lipodistrofia da deficit dei fattori di crescita peptidici Lipodistrofia debido a deficiencia de factores de crecimiento peptídicos Lipodystrophie durch peptidischen Wachstumsfaktormangel Lipodystrophie par déficit en facteurs de croissance peptidiques Lipodystrophy due to peptidic growth factors deficiency hrdo:pat_id_1726 Variabel Variabile Variable Variable Variable Variable Variável 612736 C537622 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Guanidino*%5Bti%5D+AND+methyltransferase%5Btw%5D+AND+deficiency%5Bti%5D+OR+Guanidinoacetate+N-Methyltransferase/df E72.8 382 124239003 C0574080 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cerebral creatine deficiency Creatina, deficiência cerebral de Deficit di GAMT Deficit di creatina cerebrale Deficiência cerebral de creatina Deficiência de GAMT Déficit en GAMT Déficit en créatine cérébrale GAMT deficiency GAMT, deficiência de GAMT-Mangel Kreatin-Mangel, zerebraler Deficit di guanidinoacetato metiltransferasi Deficiência de guanidinoacetato metiltransferase Déficit de guanidinoacetato metiltransferasa Déficit en guanidinoacétate méthyltransférase Guanidinoacetat-Methyltransferase-Mangel Guanidinoacetate methyltransferase deficiency hrdo:pat_id_1727 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 170100 D056732 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Prolidase+deficiency%5Btw%5D+OR+%28dipeptidases/df+AND+proline+dipeptidase%5Bnm%5D%29 E72.8 742 360994007 361010007 410055005 C0268532 C1534653 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hiperimidopeptidúria Hyper-Imidodipeptidurie   Hyperimidodipeptiduria Hyperimidodipeptidurie Iperimidodipeptiduria Deficit di prolidasi Deficiência de prolidase Déficit de prolidasa Déficit en prolidase Prolidase deficiency Prolidase-Mangel hrdo:pat_id_1728 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=dental+aberrations+AND+steroid+oxidoreductases+dehydrogenase+deficiency 3196 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Lyngstadaas syndrome Lyngstadaas, síndrome de Lyngstadaas-Syndrom Sindrome di Lyngtadaas Syndrome de Lyngstadaas Síndrome de Lyngstadaas Síndrome de Lyngtadaas Deficit di steroido deidrogenasi - anomalie dentali Deficiência de esteróide desidrogenase - anomalias dentárias Déficit de esteroide deshidrogenasa - anomalías dentales Déficit en stéroïde deshydrogénase - anomalies dentaires Steroid dehydrogenase deficiency - dental anomalies Steroid-Dehydrogenase-Mangel - Zahnanomalien hrdo:pat_id_1729 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 275350 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=transcobalamins/df%5Bmajr%5D D51.2 859 237934001 C0342701 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Congenital deficiency of transcobalamin Deficit congenito di transcobalamina Déficit congénital en transcobalamine Déficit congénito de transcobalamina Transcobalamin-Mangel, kongenitaler Deficit di transcobalamina II Deficiência de transcobalamina II Déficit de transcobalamina II Déficit en transcobalamine II Transcobalamin II deficiency Transcobalamin-II-Mangel hrdo:pat_id_173 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 236200 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22homocystinuria%22%5BMeSH+Terms%5D+OR+%28Homocystinuria%5BText+Word%5D+NOT+medline%5Bsb%5D%29 E72.1 394 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Cistationina beta-sintetase, deficiência de Cystathionin-beta-Synthase-Mangel Cystathionine beta-synthase deficiency Deficiencia de cistationina beta-sintasa Deficit di cistationina beta-sintasi Deficiência de cistationina beta-sintetase Déficit de cistationina beta-sintasa Déficit en cystathionine bêta-synthase Homocistinuria por deficiencia de cistationina beta-sintasa Homocistinuria por déficit de cistationina beta-sintasa Homocystinuria due to cystathionine beta-synthase deficiency Homocystinurie durch Cystathionin-beta-Synthase-Mangel Homocystinurie par déficit en cystathionine bêta-synthase Omocistinuria da deficit di cistationina beta-sintasi Classical homocystinuria Homocistinuria clásica Homocistinúria por deficiência de cistationina beta-sintetase Homocystinurie classique Homocystinurie, klassische Omocistinuria classica hrdo:pat_id_1730 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 203700 D002549 10062943 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=alpers%5Bti%5D+OR+%28Diffuse+Cerebral+Sclerosis+of+Schilder+AND+alpers%5Btw%5D%29 G31.8 726 20415001 C0205710 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Alpers progressive sclerosing poliodystrophy Alpers-Huttenlocher syndrome Alpers-Huttenlocher-Syndrom Degenerazione neuronale progressiva dell'infanzia associata a malatia epatica Dégénérescence neuronale progressive de l'enfant avec maladie du foie Polidistrofia sclerosante progressiva di Alpers Polydystrophie sclérosante progressive d'Alpers Progressive neuronal degeneration of childhood with liver disease Progressive neuronale Degeneration im Kindesalter mit Lebererkrankung Progressive sklerosierende Poliodystrophie Alpers Sindrome di Alpers-Huttenlocher Syndrome d'Alpers-Huttenlocher Alpers syndrome Alpers-Syndrom Sindrome di Alpers Syndrome d'Alpers Síndrome de Alpers Síndrome de Alpers hrdo:pat_id_1731 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601553 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28macular+degeneration%5Bmh%5D+OR+macular+dystrophy%5Bti%5D%29+AND+hypotrichosis Q84.0 1573 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Distrofia macular juvenil con hipotricosis HJMD HJMD HJMD HJMD HJMD Hypotrichose mit juveniler Makuladystrophie Hypotrichosis with juvenile macular dystrophy Ipotricosi con distrofia maculare giovanile Makuladystrophie - Hypotrichose, juvenile Form Degeneración macular juvenil con hipotricosis Degenerescência macular juvenil - hipotricose Hypotrichose - juvenile Makuladegeneration Hypotrichose avec dégénérescence maculaire juvénile Hypotrichosis with juvenile macular degeneration Ipotricosi con degenerazione maculare giovanile hrdo:pat_id_1732 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 267760 1574 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Mackay-Shek-Carr syndrome Mackay-Shek-Carr, síndrome de Sindrome di Mackay-Shek-Carr Syndrome de Mackay-Shek-Carr Síndrome de Mackay-Shek-Carr Síndrome de Mackay-Shek-Carr Degeneración retiniana - microftalmia - glaucoma Degenerazione retinica - microftalmia - glaucoma Degenerescência retiniana - nanoftalmia - glaucoma Dégénérescence rétinienne - microphtalmie - glaucome Netzhautdegeneration - Nanophthalmus - Glaukom Retinal degeneration - nanophthalmos - glaucoma hrdo:pat_id_1733 neant G31.0 1575 disease Degeneración estriado talámica infantil Degenerazione striato- talamica infantile Degenerescência estriato-talâmica infantil Dégénérescence striato-thalamique infantile Infantile striato thalamic degeneration Striatum- und Thalamusdegeneration, infantile hrdo:pat_id_1734 neant G31.0 1577 disease Degeneración talámica infantil Degenerazione talamica infantile Degenerescência talâmica infantil Dégénérescence thalamique infantile Infantile thalamic degenerescence Thalamusdegeneration, infantile hrdo:pat_id_1737 612626 neant Q93.5 1596 malformation syndrome 15q26 deletion Deleción 15q25 Delezione 15q distale Delezione 15q telomerica Delezione 15q26 Distal 15q deletion Délétion 15q26 Délétion distale 15q Délétion télomérique 15q Monosomia 15q26 Monosomie 15q25 Monosomie 15q26 Monosomy 15q26 Monossomia 15q25 Telomeric 15q deletion Deletion 15q25 Deleção 15q25 Distal monosomy 15q Monosomia 15q distale Monosomie distale 15q Monosomía distal 15q hrdo:pat_id_1738 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 607872 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(deletion%5Bti%5D+OR+monosomy+OR+loss%5Bti%5D)+1p36%5Bti%5D Q93.5 1606 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Del(1)(p36) Del(1)(p36) Del(1)(p36) Del(1)(p36) Del(1)(p36) Deleción 1p36 Deleción 1pter Deleción subtelomérica 1p36 Deletion 1p36 Deletion 1p36 Deletion 1pter Deletion 1pter Delezione 1p36 Delezione 1p36 subtelomerica Delezione 1pter Délétion 1p36 Délétion 1pter Délétion subtélomérique 1p36 Monosomia 1pter Monosomie 1p36 Monosomie 1pter Monosomie 1pter Monosomy 1p36 Monosomy 1pter Monosomía 1p36 Monosomía 1pter Monossomia 1p36 Subtelomere 1p36-Deletion Subtelomeric 1p36 deletion 1p36 deletion syndrome Deleção 1p36 Monosomia 1p36 Monosomie 1p36 Syndrome de délétion 1p36 Síndrome de deleción 1p36 hrdo:pat_id_1739 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance C538316 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Monosomy+OR+deletion%5Bti%5D%29+AND+2q24*%5Bti%5D Q93.5 1617 C2931816 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Del(2)(q24) Del(2)(q24) Del(2)(q24) Del(2)(q24) Del(2)(q24) Monosomia 2q24 Monosomie 2q24 Monosomie 2q24 Monosomy 2q24 Monosomía 2q24 Monossomia 2q24 2q24 microdeletion syndrome Deleção 2q24 Mikrodeletionssyndrom 2q24 Sindrome da microdelezione 2q24 Syndrome de microdélétion 2q24 Síndrome de microdeleción 2q24 hrdo:pat_id_1741 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 164180 C538088 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Oculocerebrocutaneous%5Bti%5D Q87.8 1647 403554008 C0796092 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cisti orbitaria con malformazioni cerebrali e cutanee focali Delleman syndrome Delleman-Oorthuys syndrome Delleman-Oorthuys, síndrome de Delleman-Oorthuys-Syndrom Delleman-Syndrom Kyste orbitaire - malformations cérébrales - hypoplasie dermique en aires Leichtman-Wood-Rohn syndrome Leichtman-Wood-Rohn, síndrome de Leichtman-Wood-Rohn-Syndrom OCCS OCCS OCCS OCCS OCCS Orbital cyst with cerebral and focal dermal malformations Orbitazyste mit zerebralen und fokal-dermalen Fehlbildungen Quiste orbitario con malformaciones dérmicas focales y cerebrales Quisto orbital - Malformações cerebrais e dérmicas focais Quisto orbital - malformações cerebrais e dérmicas focais Sindrome di Delleman Sindrome di Delleman-Oorthuys Sindrome di Leichtman-Wood-Rohn Syndrome de Delleman Syndrome de Delleman-Oorthuys Syndrome de Leichtman-Wood-Rohn Síndrome de Delleman Síndrome de Delleman-Oorthuys Síndrome de Delleman-Oorthuys Síndrome de Leichtman-Wood-Rohn Síndrome de Leichtman-Wood-Rohn Oculocerebrocutaneous syndrome Okulo-zerebro-kutanes Syndrom Sindrome oculo-cerebro-cutanea Syndrome oculo-cérébro-cutané Síndrome oculo-cerebro-cutâneo Síndrome óculo-cerebro-cutáneo hrdo:pat_id_1742 1651 group of phenomes Dennis-Cohen syndrome Dennis-Cohen-Syndrom Sindrome di Dennis-Cohen Syndrome de Dennis-Cohen Síndrome de Dennis Cohen Síndrome de Dennis-Cohen hrdo:pat_id_1743 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável D003805 neant K00.5 1653 109492001 C0011430 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown DD DD DD DD Dysplasie dentinaire Dentin dysplasia Dentindysplasie Displasia da dentina Displasia de la dentina Displasia della dentina Dysplasie de la dentine hrdo:pat_id_1744 243185 neant 1654 malformation syndrome Dentes neonatais - pseudo-oclusão intestinal - canal patente Denti neonatali - pseudo-ostruzione intestinale - dotto arterioso pervio Dents néonatales - pseudo-obstruction intestinale - canal artériel perméable Dientes neonatales - pseudo obstrucción intestinal - ductus arterioso persistente Natal teeth - intestinal pseudoobstruction - patent ductus Zähne, konnatale - intestinale Pseudoobstruktion - persistierender Ductus arteriosus hrdo:pat_id_1745 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 221810 C535373 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=ulcer+skin+osteolysis+anodontia+oligodontia 1657 C1857301 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dermato osteolisis tipo Kirghize Dermato-Osteolyse, kirgisischer Typ Dermato-osteolisi, tipo Kirghizi Dermato-ostéolyse type Kirghize Dermatoosteolysis, Kirghizian type Dermatosteolíse, tipo Kirghizian hrdo:pat_id_17459 Variabel Variabile Variable Variable Variable Variable Variável neant D12.6 160148 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Eroded polypoid hyperplasia Hiperplasia polipoide erosionada Hyperplasie polypoïde érodée Inflammatory myoglandular polyps Pliegues polipoides prolapsados Pliegues polipoides prolapsantes Polype myoglandulaire inflammatoire Polypen, entzündliche myoglanduläre Polypoid prolapsing folds Polypoide Hyperplasie, erodierte Pólipos inflamatorios mioglandulares Pólipos mioglandulares inflamatorios Cap polyposis Kappen-Polypose Polipose Cap Poliposi a ''cappuccio'' Poliposis con capuchón Polypose "capé" hrdo:pat_id_1746 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 129200 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(dermatoglyphics%2Fab+OR+Fingerprints+absence)+congenital+milia Q82.8 1658 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Absence of dermatoglyphics - congenital milia Assenza dei dermatoglifi - milia congenita Ausência de dermatoglifos - milia congénita Ausência de dermatóglifos - milia congénita Baird syndrome Baird, síndrome de Baird-Syndrom Sindrome di Baird Syndrome de Baird Síndrome de Baird Absence de dermatoglyphes - miliaire congénital Absence of fingerprints - congenital milia Assenza delle impronte digitali - milia congenita Ausencia de dermatogifos sindactilia miliar Ausência de impressões digitais - milia congénita Dermatoglyphen, fehlende - kongenitale Milien hrdo:pat_id_1747 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 221790 C538220 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Dermatoleukodystrophy%5BAll+Fields%5D E75.2 1659 C1857314 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dermato-Leukodystrophie Dermatoleucodistrofia Dermatoleucodistrofia Dermatoleucodistrofia Dermatoleucodystrophie Dermatoleukodystrophy hrdo:pat_id_1749 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 125640 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=DERMOODONTODYSPLASIA Q82.4 1660 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dermato-odontodisplasia Dermo odonto displasia Dermo-odonto dysplasia Dermo-odonto-displasia Dermoodontodysplasie Dysplasie dermo-dentaire hrdo:pat_id_17490 neant Q30.8 162516 malformation syndrome Estenosis aislada de la abertura piriforme Estenosis de la apertura piriforme, aislada Hipoplasia aislada de la abertura piriforme nasal Hipoplasia de apertura nasal piriforme, aislada Hypoplasie des orifices piriformes Ipoplasia isolata degli orifizi piriformi nasali Isolated apertura pyriformis stenosis Isolated nasal pyriform aperture hypoplasia Stenosi isolata degli orifizi piriformi Estenose da abertura piriforme nasal congénita, isolada Estenosis de la apertura piriforme nasal, congénita, aislada Isolated congenital nasal pyriform aperture stenosis Stenose der Apertura piriformis, kongenitale, isolierte Stenosi congenita e isolata degli orifizi piriformi nasali Sténose congénitale isolée des orifices piriformes hrdo:pat_id_17491 neant Q30.8 162521 malformation syndrome Abertura piriforme con holoprosencefalia Apertura piriforme con holoprosencefalia Apertura pyriformis with holoprosencephaly Orifizi piriformi associati a oloprosencefalia Congenital nasal pyriform aperture stenosis with holoprosencephaly Estenose da abertura piriforme nasal congénita, com holoprosencefalia Estenosis de la apertura piriforme nasal, congénita, con holoprosencefalia Stenose der Apertura piriformis, kongenitale, mit Holoprosenzephalie Stenosi congenita degli orifizi piriformi nasali associata a oloprosencefalia Sténose congénitale des orifices piriformes - holoprosencéphalie hrdo:pat_id_17492 neant Q16.3 162526 morphological anomaly Congenital auditory ossicle malformation without external ear abnormality Malformación congénita de los osículos auditivos sin anomalías del oído externo Malformation ossiculaire sans anomalie du canal auditif externe Malformazione congenita degli ossicini dell'orecchio medio senza anomalie dell'orecchio esterno Fehlbildung der Gehörknöchelchen, kongenitale, isolierte Isolated congenital auditory ossicle malformation Malformación de la cadena osicular, congénita, aislada Malformation congénitale isolée de la chaîne ossiculaire Malformazione congenita e isolata degli ossicini dell'orecchio medio Malformação auditiva ossicular congénita, isolada hrdo:pat_id_17496 neant Q04.8 163209 group of phenomes Brain malformation due to abnormal neuronal migration Hirnfehlbildung durch Anomalie der neuronalen Migration Malformación del cerebro por migración neuronal anormal Malformación del cerebro por una migración neuronal anormal Malformazione cerebrale da difetto della migrazione neuronale Doença neurológica por migração neuronal anómala Malformación cerebral no sindrómica por migración neuronal anormal Malformation cérébrale non syndromique due à une anomalie de la migration neuronale Malformazione cerebrale non sindromica da difetto della migrazione neuronale Nonsyndromic cerebral malformation due to abnormal neuronal migration Zerebrale Fehlbildung durch neuronalen Migrationsdefekt, nichtsyndromal hrdo:pat_id_17499 hrdo:pat_id_1750 304730 neant Q13.4 1661 disease Corneal dystrophy epithelial - short stature Dermoïdes cornéens - petite taille Distrofia corneal epitelial - estatura baja Guizar-Vasquez-Luengas syndrome Guizar-Vasquez-Luengas, síndrome de Guizar-Vasquez-Luengas-Syndrom Hornhautdystrophie, epitheliale - Kleinwuchs Sindrome di Guizar-Vasquez-Luengas Syndrome de Guizar-Vasquez-Luengas Síndrome de Guizar-Vasquez-Luengas Síndrome de Guizar-Vasquez-Luengas Dermoide corneal, ligado a X Dermoide corneale legato all'X Dermoïde cornéen lié à l'X Distrofia epitelial da córnea - baixa estatura Korneales Demoid, X-chromosomales X-linked corneal dermoid hrdo:pat_id_17500 10057903 neant L93.1 163525 239891002 C0024140 disease Lupus eritematoso cutaneo subacuto Lupus eritematoso cutáneo subagudo Lupus eritematoso cutâneo subagudo Lupus erythematodes, kutaner, subakuter Lupus érythémateux cutané subaigu Subacute cutaneous lupus erythematosus hrdo:pat_id_17501 10057928 neant L93.2 163528 C1142226 group of phenomes Acute cutaneous lupus erythematosus Lupus eritematoso cutaneo acuto Lupus eritematoso cutáneo agudo Lupus eritematoso cutâneo agudo Lupus erythematodes, kutaner, akuter Lupus érythémateux cutané aigu hrdo:pat_id_17502 10057929 neant L93.0 L93.2 163531 group of phenomes Chronic cutaneous lupus erythematosus Lupus eritematoso cutaneo cronico Lupus eritematoso cutáneo crónico Lupus eritematoso cutâneo crónico Lupus erythematodes, kutaner, chronischer Lupus érythémateux cutané chronique hrdo:pat_id_17503 163582 group of phenomes Doença infecciosa bacteriana rara Enfermedad rara por infección bacteriana Infektionskrankheit, bakterielle, seltene Maladie infectieuse bactérienne rare Malattia infettiva batterica rara Rare bacterial infectious disease hrdo:pat_id_17504 163585 group of phenomes Doença vírica rara Enfermedad rara viral Maladie virale rare Malattia virale rara Rare viral disease Virenkrankheit, seltene hrdo:pat_id_17505 163588 group of phenomes Doença parasitária rara Enfermedad rara parasitaria Malattia parassitica rara Parasitose rare Parasitäre Krankheit, seltene Rare parasitic disease hrdo:pat_id_17506 163591 group of phenomes Micose rara Micosi rara Micosis rara Mycose rare Mykose, seltene Rare mycosis hrdo:pat_id_17507 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 236750 neant D56.0 163596 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Alfa talassemia idrope fetale Alfa talassemia major Alfa talassemia omozigote Alfa-talasemia mayor Alfa0-talasemia homocigota Alpha-thalassemia hydrops fetalis Alpha-thalassemia major Alpha-thalassémie majeure Bart's hydrops fetalis Hemoglobin Bart's hydrops fetalis Hidropesía fetal alfa-talasemia Hidropesía fetal con hemoglobina de Bart Hidropesía fetal de Bart Homozygous alpha0-thalassemia Hémoglobinose de Bart Idrope fetale da emoglobina di Bart Idrope fetale di Bart Thalassémie alpha majeure Hb Bart's Hydrops Fetalis Hb-Bart’s-Hydrops fetalis-Syndrom Hidropesía fetal con Hb de Bart Hidrópsia fetal de Bart Hydrops foetalis de Bart Idrope fetale da Hb di Bart hrdo:pat_id_17508 neant K76.8 163631 group of phenomes Bile acid synthesis defect with cholestasis and malabsorption Defecto en la síntesis de ácido biliar Deficiência da síntese de ácidos biliares Difetto della sintesi degli acidi biliari Défaut de synthèse des acides biliaires avec cholestase et malabsorption Gallensäuresynthesedefekt mit Cholestase und Malabsorption hrdo:pat_id_17509 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 614569 neant Q78.4 163634 46041001 C0024454 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Maffucci syndrome Maffucci-Syndrom Sindrome di Maffucci Syndrome de Maffucci Síndrome de Maffucci Síndrome de Maffucci hrdo:pat_id_1751 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 275210 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=dermopathy+AND+restrictive%5Bti%5D+OR+%28%28tight+skin%5Btw%5D+OR+HYPERKERATOSIS%5Bti%5D%29+contracture%29 Q82.8 1662 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dermopathie restrictive létale Dermopathie, letale restriktive Dermopatia restritiva letal Dermopatia restrittiva letale Dermopatía restrictiva letal Lethal restrictive dermopathy hrdo:pat_id_17510 163637 group of phenomes Condition rare associée à la grossesse et la perinatalité Doença rara relacionada com gravidez, parto e puerpério Malattia rara associata a gravidanza, parto e puerperio Rare disorder related with pregnancy, childbirth and puerperium Schwangerschaft, Geburt und Wochenbett, seltene Krankheiten in Relation zu Trastornos raros relacionados con embarazo, nacimiento y puerperio hrdo:pat_id_17514 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 602611 neant Q77.7 163649 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia espondiloepifisaria - craneosinostosis - fisura palatina - cataratas - déficit intelectual Displasia spondiloepifisaria - craniosinostosi - palatoschisi - cataratta - deficit cognitivo Dysplasie spondylo-épiphysaire - craniosynostose - fente palatine - cataracte - déficit intellectuel Spondyloepiphyseal dysplasia - craniosynostosis - cleft palate - cataract - intellectual deficit Spondyloepiphysäre Dysplasie - Kraniosysnostose - Gaumenspalte - Katarakt - Intelligenzminderung Displasia espondiloepifisaria tipo Nishimura Displasia espondiloepifisária, tipo Nishimura Displasia spondiloepimetafisaria, tipo Nishimura Dysplasie spondylo-épiphysaire type Nishimura Dysplasie, spondyloepiphysäre, Typ Nishimura Spondyloepiphyseal dysplasia, Nishimura type hrdo:pat_id_17515 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 611717 neant Q77.7 163654 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia en tatuaje Displasia espondiloepifisaria - braquidactilia - trastorno del habla Dysplasie spondylo-épiphysaire - brachydactylie - trouble du langage Fantasy Island syndrome SED-BDS Spondyloepiphyseal dysplasia - brachydactyly - speech disorder Síndrome de la Isla de la Fantasía Tattoo dysplasia Displasia espondiloepifisaria tipo Cantu Displasia espondiloepifisária, tipo Cantu Displasia spondiloepifisaria, tipo Cantu Dysplasie spondylo-épiphysaire type Cantu Dysplasie, spondyloepiphysäre, Typ Cantu Spondyloepiphyseal dysplasia, Cantu type hrdo:pat_id_17516 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 600561 neant Q77.7 163662 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia espondiloepifisaria tipo Reardon Displasia espondiloepifisária, tipo Reardon Displasia spondiloepifisaria, tipo Reardon Dysplasie spondylo-épiphysaire type Reardon Dysplasie, spondyloepiphysäre, Typ Reardon Spondyloepiphyseal dysplasia, Reardon type hrdo:pat_id_17517 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 271620 neant Q77.7 163665 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia espondiloepifisaria tarda tipo Kohn Displasia espondiloepifisária tardia, tipo Kohn Displasia spondiloepifisaria tardiva, tipo Kohn Dysplasie spondylo-épiphysaire tardive type Kohn Dysplasie, spondyloepiphysäre, verzögerte, Typ Kohn Spondyloepiphyseal dysplasia tarda, Kohn type hrdo:pat_id_17518 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 184000 neant Q77.7 163668 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia espondiloepifisaria - miopía - sordera neurosensorial Displasia spondilometafisaria - miopia - sordità neurosensoriale Dysplasie spondylo-épiphysaire - myopie - surdité sensorielle Spondyloepiphyseal dysplasia - myopia - sensorineural deafness Spondyloepiphysäre Dysplasie - Myopie - sensorineuraler Hörverlust Displasia espondiloepifisaria tipo MacDermot Displasia espondiloepifisária tardia, tipo MacDermot Displasia spondiloepifisaria tardiva, tipo MacDermot Dysplasie spondylo-épiphysaire type MacDermot Dysplasie, spondyloepiphysäre, Typ MacDermot Spondyloepiphyseal dysplasia, MacDermot type hrdo:pat_id_17519 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 183850 neant Q77.7 163673 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia espondiloepifisaria - distrofia corneal punteada Displasia espondiloepifisiaria - Distrofia puntiforme de la córnea Dysplasie spondylo-épiphysaire - dystrophie cornéenne ponctuée Spondyloepiphyseal dysplasia - punctate corneal dystrophy Displasia espondiloepifisaria tipo Byers Displasia espondiloepifisária, tipo Byers Displasia spondiloepifisaria, tipo Byers Dysplasie spondylo-épiphysaire type Byers Dysplasie, spondyloepiphysäre, Typ Byers Spondyloepiphyseal dysplasia, Byers type hrdo:pat_id_17520 163678 disease Displasia espondilometafisária, outros tipos Displasia spondiloepifisaria non classificata Dysplasie spondylométaphysaire non classifiée Dysplasie, spondylometaphysäre (weitere Typen) Otros tipos de displasia espondiloepifisaria Unclassified spondylometaphyseal dysplasia hrdo:pat_id_17521 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 610042 neant Q04.8 163681 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Cortical dysplasia - focal epilepsy syndrome Displasia cortical - síndrome de epilepsia focal Displasia corticale - epilessia focale sindromica Dysplasie, kortikale - fokales Epilepsie-Syndrom Syndrome de dysplasie corticale - épilepsie focale Síndrome displasia cortical - epilepsia focal hrdo:pat_id_17522 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 613724 neant E75.2 163684 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Leucoencefalopatia - distonia - neuropatia motora Leucoencefalopatia - distonia - neuropatia motoria Leucoencefalopatía - distonía - neuropatía motora Leucoencéphalopathie - dystonie - neuropathie motrice Leukoencephalopathy - dystonia - motor neuropathy Leukoenzephalopathie - Dystonie - motorische Neuropathie hrdo:pat_id_17524 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 606407 neant 163690 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 HCS HCS Hypotonia - cystinuria syndrome Hypotonie - Cystinurie-Syndrom Sindrome ipotonia-cistinuria Syndrome d'hypotonie-cystinurie Síndrome de hipotonía - cistinuria Síndrome hipotonia - cistinúria hrdo:pat_id_17525 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 606407 neant Q93.5 163693 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 2p21 deletion Del(2)(p21) Del(2)(p21) Del(2)(p21) Del(2)(p21) Del(2)(p21) Deleción 2p21 Deletion 2p21 Delezione 2p21 Délétion 2p21 Monosomia 2p21 Monosomie 2p21 Monosomie 2p21 Monosomy 2p21 Monosomía 2p21 2p21 microdeletion syndrome Deleção 2p21 Mikrodeletionssyndrom 2p21 Sindrome da microdelezione 2p21 Syndrome de microdélétion 2p21 Síndrome de microdeleción 2p21 hrdo:pat_id_17526 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 254900 neant 163696 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Action myoclonus - renal failure syndrome Aktionsmyoklonus - Nierenversagen Mioclono de acción - síndrome de insuficiencia renal Sindrome da mioclono d'azione - insufficienza renale Syndrome de myoclonus d'action-insuffisance rénale Síndrome mioclonias de ação - insuficiência renal hrdo:pat_id_17527 Variabel Variabile Variable Variable Variable Variable Variável 606243 D018234 10001882 neant 163699 404056007 88195001 C0206657 disease Sarcome alvéolaire des parties molles Alveolar soft-part sarcoma Sarcoma alveolar das partes moles Sarcoma alveolare delle parti molli Sarcoma de parte blanda alveolar Sarcome alvéolaire des tissus mous Weichteilsarkom, alveoläres hrdo:pat_id_17528 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 163703 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 AERRPS AERRPS AERRPS AERRPS Acute encephalitis with refractory repetitive partial seizures Acute non-herpetic encephalitis with severe refractory status epilepticus DESC syndrome Devastating epileptic encephalopathy in school-aged children Encefalite acuta con convulsioni parziali ripetitive refrattarie Encefalite non erpetica acuta con grave stato epilettico refrattario Encefalitis aguda con convulsiones parciales repetitivas refractarias Encefalitis no herpética aguda con estado epiléptico refractario grave Encefalopatia epilettica catastrofica idiopatica Encefalopatia epilettica devastante nei bambini in età scolare Encefalopatia epilettica refrattaria indotta dalla febbre nei bambini in età scolare Encefalopatía epiléptica catastrófica en niños en edad escolar Encefalopatía epiléptica catastrófica idiopática Encefalopatía epiléptica refractaria inducida por fiebre en niños en edad escolar Encéphalite aigüe avec épilepsie partielle répétitive réfractaire Encéphalite non-herpétque aigüe avec épilepsie réfractaire sévère Encéphalopathie épileptique catastrophique idiopathique Encéphalopathie épileptique dévastatrice des enfants en âge scolaire Encéphalopathie épileptique réfractaire induite par la fièvre chez l'enfant Estado epiléptico refractario grave debido a una presunta encefalitis FIRES FIRES FIRES FIRES FIRES Fever-induced refractory epileptic encephalopathy in school-aged children Idiopathic catastrophic epileptic encephalopathy Severe refractory status epilepticus owing to presumed encephalitis Sindrome DESC Stato epilettico refrattario grave dovuto a presunta encefalite Syndrome DESC Síndrome DESC Febrile infection-related epilepsy syndrome Infekt-assoziierter Status epilepticus ohne Erregernachweis im Liquor Sindrome epilettica da infezione febbrile Syndrome épileptique par infection fébrile Síndrome DESC Síndrome epiléptico por infección febril hrdo:pat_id_17529 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 163708 disease Espasmos infantiles de aparición tardía Espasmos infantiles tardíos Late-onset infantile spasms Spasme infantile à début tardif Cryptogenic late-onset epileptic spasms Epilepsie, kryptogenetische, spät beginnende Espasmos epilépticos criptogénicos de início tardio Espasmos epilépticos de aparición tardía criptogénicos Spasme cryptogénique à début tardif Spasmi epilettici criptogenetici a esordio tardivo hrdo:pat_id_1753 neant Q02 1665 malformation syndrome '''Fetal brain disruption''-Sequenz' Fetal brain disruption sequence Hirnfehlbildung, fetale komplexe Secuencia disruptiva del cerebro fetal Sequência de disrupção cerebral fetal Sindrome della distruzione del cervello fetale Syndrome de destruction du cerveau foetal hrdo:pat_id_17531 611630 neant 163717 disease Benign familial mesial temporal lobe epilepsy Epilepsia familiar, mesial temporal Epilepsia temporal mesial familiar benigna Epilepsie temporale mésiale familiale bénigne Epilessia temporale mesiale familiare benigna Temporallappenepilepsie, mesiale, familiäre Form hrdo:pat_id_17532 300643 601085 neant 163721 disease Epilepsia rolándica con dispraxia del habla Epilepsia rolândica - dispraxia do discurso Epilepsie rolandique - dyspraxie de la parole Epilessia rolandica - disprassia verbale Rolandic epilepsy - speech dyspraxia Rolando-Epilepsie - Sprachdyspraxie hrdo:pat_id_17533 608105 C535499 neant 163727 C1842531 disease Epilepsia rolándica - distonia paroxística inducida por ejercicio - calambre del escritor Epilepsia rolândica - distonia induzida por exercício paroxismal - cãibra do escrivão Epilepsie rolandique - dystonie paroxystique induite par l'effort - crampe de l'écrivain Epilessia rolandica - distonia parossistica indotta dall'esercizio - crampo dello scrivano Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer's cramp Rolando-Epilepsie - paroxysmal anstrengungsinduzierte Dyskinesie - Schreibkrampf hrdo:pat_id_17538 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 609136 neant E75.2 163746 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Neuropathie périphérique-leukodystrophie centrale dysmyélinisante-syndrome de Waardenburg-maladie de Hirschsprung PCWH PCWH PCWH Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease Periphere demyelinisierende Neuropathie-zentrale demyelinisierende Leukodystrophie-Waardenburg-Syndrom-Hirschsprung Krankheit WS4 "plus" WS4 "plus" WS4 'plus' WS4 plus WS4"plus" WS4"plus" Neurologic Waardenburg-Shah syndrome Sindrome di Waardenburg-Shah, variante neurologica Syndrome de Waardenburg-Shah variante neurologique Síndrome de Waardenburg-Shah, variante neurológica Síndrome de Waardenburg-Shah, variante neurológica Waardenburg-Shah-Syndrom, neurologische Variante hrdo:pat_id_17539 D020363 163892 230192003 C0338430 group of phenomes Encefalite limbica Encefalite límbica Encefalitis límbica Encéphalite limbique Limbic encephalitis Limbische Enzephalitis hrdo:pat_id_1754 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 226980 C536739 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Wolcott+Rallison%5Btw%5D E10 1667 254066006 C0432217 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Diabete mellito a esordio precoce - displasia epifisaria multipla Diabetes mellitus precoz con displasia epifisaria múltiple Diabète précoce et dysplasie épiphysaire multiple Displasia epifisária múltipla com diabetes mellitus precoce Early-onset diabetes mellitus with multiple epiphyseal dysplasia Multiple epiphysäre Dysplasie - früh einsetzender Diabetes WRS WRS WRS WRS Sindrome di Wolcott-Rallison Syndrome de Wolcott-Rallison Síndrome de Wolcott-Rallison Síndrome de Wolcott-Rallison Wolcott-Rallison syndrome Wolcott-Rallison-Syndrom hrdo:pat_id_17540 neant G13.1 163895 445014002 group of phenomes Encefalite limbica paraneoplastica Encefalite límbica paraneoplásica Encefalitis límbica paraneoplásica Encéphalite limbique paranéoplasique Limbische Enzephalitis, paraneoplastische Paraneoplastic limbic encephalitis hrdo:pat_id_17541 neant G13.1 163898 disease Classic paraneoplastic limbic encephalitis, with or without intracellular antigens Encefalitis límbica paraneoplásica clásica con o si antígenos intracelulares Encefalitis límbica paraneoplásica clásica, con o sin antígenos intracelulares Encéphalite limbique paranéoplasique classique avec ou sans antigènes intracellulaires Classic paraneoplastic limbic encephalitis Encefalite limbica paraneoplastica, forma classica Encefalite límbica paraneoplásica, forma clássica Encéphalite limbique paranéoplasique classique Forma clásica de encefalitis límbica paraneoplásica Limbische Enzephalitis, paraneoplastische, klassische Form hrdo:pat_id_17542 neant G13.1 163903 group of phenomes Encefalite limbica associata ad anticorpi contro antigeni della membrana cellulare Encefalite límbica associada a anticorpos dos antigénios da membrana celular Encefalitis límbica asociada a anticuerpos contra antígenos de membrana celular Encéphalite limbique avec anticorps anti-membrane cellulaire Limbic encephalitis associated with antibodies to cell membrane antigens Limbische Enzephalitis mit assoziierten Antikörpern gegen Zellwandantigene hrdo:pat_id_17543 neant G13.1 163908 disease Encefalitis límbica con anticuerpos contra canales de potasio voltaje-dependientes Encefalitis límbica con anticuerpos para los canales de potassio dependientes de voltaje Encéphalite limbique avec anticorps anti-leucine-rich glioma-inactivated 1 Limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies Encefalite limbica con anticorpi VGKC Encefalite límbica com anticorpos VGKC Encefalitis límbica con anticuerpos VGKC Encéphalite limbique avec anticorps anti-LGI1 Limbic encephalitis with LGI1 antibodies VGKC-Antikörper-assoziierte limbische Enzephalitis hrdo:pat_id_17544 neant G13.1 163914 disease Encefalitis límbica con anticuerpos noveles de Antígenos de Membrana Celular Encefalitis límbica con anticuerpos/antígenos de membrana celular nuevos/recientes Limbic encephalitis with novel Cell Membrane Antigens antibodies Encefalite limbica con anticorpi nCMAgs Encefalite límbica com anticorpos nCMAgs Encefalitis límbica con anticuerpos nCMAgs Encéphalite limbique avec anticorps anti-nCMAgs Limbic encephalitis with nCMAgs antibodies Limbische Enzephalitis, mit nCMAgs Antikörper hrdo:pat_id_17545 163918 group of phenomes Encefalite limbica non paraneoplastica Encefalite límbica não-paraneoplásica Encefalitis límbica no paraneoplásica Encéphalite limbique non paranéoplasique Limbische Enzephalitis, nicht-paraneoplastische Non-paraneoplastic limbic encephalitis hrdo:pat_id_17546 163921 particular clinical situation in a disease or syndrome Encefalite limbica acuta post-trapianto Encefalite límbica aguda pós-tranplante Encefalitis límbica aguda post-trasplante Encéphalite limbique aigüe post-transplantation Limbische Enzephalitis, akute, nach Transplantation Post-transplant acute limbic encephalitis hrdo:pat_id_17547 163924 disease Encefalite limbica acuta non erpetica Encefalite límbica aguda não-herpética Encefalitis límbica aguda no herpética Encéphalite limbique aigüe non-herpétique Limbische Enzephalitis, akute, nicht herpetische Non-herpetic acute limbic encephalitis hrdo:pat_id_17548 163927 disease LPP LPP LPP Localized pustular psoriasis PPL PPP PPP PPP PPP Palmoplantar pustulosis Psoriasi pustolosa localizzata Psoriasis pustuleux localisé Psoriasis pustulosa localizada Pustolosi palmoplantare Pustulosis palmoplantar Pustolosi palmare e plantare Pustulose palmo-plantaire Pustulosis Palmaris et Plantaris Pustulosis palmar y plantar Pustulosis palmaris et plantaris Pustulosis palmaris et plantaris hrdo:pat_id_17549 163931 disease Acrodermatite continua suppurativa di Hallopeau Acrodermatite continue de Hallopeau Acrodermatite contínua supurativa de Hallopeau Acrodermatitis continua suppurativa Hallopeau Acrodermatitis continua suppurativa of Hallopeau Acrodermatitis continua supurativa de Hallopeau hrdo:pat_id_17550 10069664 neant H16.2 163934 403434009 C1274788 disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Atopic keratoconjunctivitis Cheratocongiuntivite atopica Keratokonjunktivitis, atopische Kératoconjonctivite atopique Queratoconjuntivite atópica Queratoconjuntivitis atópica hrdo:pat_id_17551 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300749 neant Q04.3 163937 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficit cognitivo - microcefalia - ipoplasia del tronco cerebrale e del cervelletto legato all'X Déficit intelectual ligado al X - microcefalia - hipoplasia del cerebelo y del tronco del encéfalo Déficit intelectual ligado al X - microcefalia - hipoplasia del tronco cerebral y el cerebelo Déficit intellectuel lié à l'X - microcéphalie - hypoplasie pontocérébelleuse MICPCH MICPCH MICPCH MICPCH-Syndrom MICPHC X-chromosomale Intelligenzminderung - Mikrozephalie - Hirnstamm- und Kleinhirn-Hypoplasie X-linked intellectual deficit - microcephaly - pontocerebellar hypoplasia Atraso mental ligado ao X, tipo Najm Deficit cognitivo legato all'X, tipo Najm Déficit intelectual ligado al X, tipo Najm Déficit intellectuel lié à l'X type Najm Intelligenzminderung, X-chromosomale, Typ Najm X-linked intellectual deficit, Najm type hrdo:pat_id_17553 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300799 neant 163953 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Atraso mental ligado ao X, tipo Raymond Déficit intelectual ligado al X, tipo Raymond Déficit intellectuel lié à l'X type Raymond Geistige Retardierung, X-chromosomale, Typ Raymond Intellectual deficit, X-linked, Raymond type Ritardo mentale legato all'X, tipo Raymond hrdo:pat_id_17554 300860 neant 163956 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Déficit intelectual ligado al X - distrofia de las uñas - convulsiones Déficit intelectual ligado al X - distrofia ungueal - convulsiones Déficit intellectuel lié à l'X - dystrophie des ongles - épilepsie X-linked intellectual deficit - nail dystrophy - seizures Atraso mental ligado ao X, tipo Nascimento Déficit intelectual ligado al X, tipo Nascimento Déficit intellectuel lié à l'X type Nascimento Geistige Retardierung, X-chromosomale, Typ Nascimento Intellectual deficit, X-linked, Nascimento type Ritardo mentale legato all'X, tipo Nascimento hrdo:pat_id_17555 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300864 neant 163961 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Syndrome cérébral-cérébelleux-colobome Síndrome cerebral-cerebeloso coloboma ligado al X Síndrome del coloboma cerebral cerebelar, ligado al X X-linked cerebral - cerebellar - coloboma syndrome Atraso mental ligado ao X, tipo Kroes Déficit intelectual ligado al X, tipo Kroes Déficit intellectuel lié à l'X type Kroes Geistige Retardierung, X-chromosomale, Typ Kroes Intellectual deficit, X-linked, Kroes type Ritardo mentale legato all'X, tipo Kroes hrdo:pat_id_17556 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300863 neant 163966 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Chondrodysplasie dominante liée à l'X - hydrocéphalie - microphtalmie Condrodisplasia - idrocefalia - microftalmia- dominante legata all'X Condrodisplasia dominante ligada al X - hidrocefalia - microftalmia X-linked dominant chondrodysplasia - hydrocephaly - microphthalmia Atraso mental ligado ao X, tipo Chassaing Chondrodysplasie dominante liée à l'X type Chassaing-Lacombe Chondrodysplasie, X-chromosomal-dominate, Typ Chassaing-Lacombe Condrodisplasia dominante legata all'X, tipo Chassaing-Lacombe Condrodisplasia dominante ligada al X, tipo Chassaing-Lacombe X-linked dominant chondrodysplasia, Chassaing-Lacombe type hrdo:pat_id_17557 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 163971 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Déficit intelectual ligado al X - microcefalia - fallo testicular Déficit intelectual ligado al X - microcefalia - insuficiencia testicular Déficit intellectuel lié à l'X - microcéphalie - insuffisance testiculaire X-linked intellectual deficit - microcephaly - testicular failure Atraso mental ligado ao X, tipo Cilliers Déficit intelectual ligado al X, tipo Cilliers Déficit intellectuel lié à l'X type Cilliers Geistige Retardierung, X-chromosomale, Typ Cilliers Intellectual deficit, X-linked, Cilliers type Ritardo mentale legato all'X, tipo Cilliers hrdo:pat_id_17558 163976 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso mental ligado ao X, tipo Van Esch Déficit intelectual ligado al X, tipo Van Esch Déficit intellectuel lié à l'X type Van Esch Geistige Retardierung, X-chromosomale, Typ Van Esch Intellectual deficit, X-linked, Van Esch type Ritardo mentale legato all'X, tipo Van Esch hrdo:pat_id_17559 300712 neant 163979 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso mental ligado ao X - síndrome craniofacioesquelético Déficit intelectual ligado al X - síndrome craneofacioesquelético Déficit intellectuel lié à l'X - syndrome cranio-facio-squelettique Geistige Retardierung, X-chromosomale - kranio-fazio-skeletales Syndrom Intellectual deficit, X-linked - craniofacioskeletal syndrome Ritardo mentale legato all'X - sindrome cranio-facio-scheletrica hrdo:pat_id_17560 309640 neant 163982 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso mental ligado ao X - tetraparesia espástica Déficit intelectual ligado al X - cuadriparesia espástica Déficit intellectuel lié à l'X - quadriparésie spastique Geistige Retardierung, X-chromosomale - spastische Quadriparese Ritardo mentale legato all'X - tetraparesi spastica X-linked intellectual deficit - spastic quadriparesis hrdo:pat_id_17561 300607 neant G25.8 163985 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hiperecplexia - epilepsia Hiperekplexia - epilepsia Hyperekplexia - epilepsy Hyperekplexie - Epilepsie Hyperexplexie - épilepsie Ipereplexia - epilessia hrdo:pat_id_17562 163988 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso do desenvolvimento - surdez, tipo Hildebrand Developmental delay - deafness, Hildebrand type Entwicklungsverzögerung - Schwerhörigkeit, Typ Hildebrand Retard de développement - surdité, type Hildebrand Retraso en el desarrollo - sordera, tipo Hildebrand Ritardo dello sviluppo - sordità, tipo Hildebrand hrdo:pat_id_17563 164001 group of phenomes Affection dentaire ou parodontaire rare Doença rara odontológica ou periodontal Malattia odontale o periodontale rara Odontale oder periodontale Krankheiten, seltene Rare odontal or periodontal disorder Trastornos dentales y periodontales raros hrdo:pat_id_17564 neant Q16.3 Q16.4 164004 group of phenomes Anomalia dell'orecchio medio Anomalia do ouvido médio Anomalie de l'oreille moyenne Anomalía del oído medio Middle ear anomaly Mittelohranomalien hrdo:pat_id_17567 164726 disease Acute myeloid leukemia and myelodysplastic syndromes related to radiation Akute myeloische Leukämie und Myelodysplastische Syndrome durch alkylierende Agenzien Leucemia mieloide acuta e sindromi mielodisplastiche da radiazioni Leucemia mieloide aguda y síndromes mielodisplásicos relacionados con la radiación Leucemia mielóide aguda e síndromes mielodisplásicos relacionados com radiação Leucémie aiguë myéloïde et syndromes myélodysplasique liés aux radiations hrdo:pat_id_17568 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 604348 neant 164736 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease FASPS Familial advanced sleep-phase syndrome Sindrome da fase ritardata del sonno familiare Syndrome d'avance de phase du sommeil Síndrome de fase avanzada del sueño, familiar Síndrome familiar da fase avançada do sono Verzögertes Schlafphasensyndrom, familiäres hrdo:pat_id_17569 neant D61.1 D61.2 164823 group of phenomes Aplasia constitucional medular do adulto Aplasia medular adquirida rara Aplasia midollare acquisita dell'età adulta Aplasie médullaire acquise rare Aplasie, medulläre, erworbene, adulte Rare acquired medullar aplasia hrdo:pat_id_1757 222500 10012750 Q06.2 1671 49351009 C0011999 morphological anomaly Diastematomielia Diastematomielia Diastematomielia Diastematomyelia Diastematomyelie Diastématomyélie hrdo:pat_id_17572 165652 group of phenomes Doença genética gastroenterológica Enfermedad gastroenterológica, genética Gastroenterological disease, genetic Gastroenterologische Krankheit, genetisch bedingte Maladie gastroentérologique génétique rare Rare genetic gastroenterological disease hrdo:pat_id_17573 165655 group of phenomes Doença genética intestinal Enfermedad intestinal, genética Genetic intestinal disease Intestinal disease, genetic Intestinale Krankheit, genetisch bedingte Maladie intestinale génétique hrdo:pat_id_17574 165658 group of phenomes Doença genética gastro-esofágica Enfermedad gastroesofágica, genética Gastro-esophageal disease, genetic Gastro-ösophageale Krankheit, genetisch bedingte Genetic gastro-esophageal disease Maladie gastro-oesophagienne génétique hrdo:pat_id_17575 165661 group of phenomes Doença genética pancreática Enfermedad pancreática, genética Genetic pancreatic disease Maladie pancréatique génétique Pancreatic disease, genetic Pankreaskrankheit, genetisch bedingte hrdo:pat_id_17576 165704 group of phenomes Fehlbildung des Urogenitaltraktes, nicht-syndromale Malformación del tracto urogenital, no sindrómica Malformation uro-génitale non syndromique Malformazione non sindromica del tratto urogenitale Malformação do trato urogenital, não-sindrómica Nonsyndromic urogenital tract malformation hrdo:pat_id_17577 165707 group of phenomes Fehlbildung des Urogenitaltraktes, syndromale Malformación del tracto urogenital, sindrómica Malformation uro-génitale syndromique Malformazione sindromica del tratto urogenitale Malformação sindrómica do trato urogenital, sindrómica Syndromic urogenital tract malformation hrdo:pat_id_17578 165711 group of phenomes Doença cirúrgica abdominal rara Enfermedad abdominal quirúrgica, rara Maladie rare en chirurgie abdominale Malattia chirurgica addominale rara Rare abdominal surgical disease Seltene Krankheiten der Abdominalchirurgie hrdo:pat_id_17579 614417 neant 165805 disease Epilepsia familiar, mesial temporal, con crisis febriles Epilepsia temporal mesial familiar com convulsões febris Epilepsie temporale mésiale familiale avec convulsions fébriles Epilepsy, mesial temporal, familial, with febrile seizures Familial mesial temporal lobe epilepsy with febrile seizures Temporallappenepilepsie, mesiale, mit Fieberkrämpfen, familiäre Form hrdo:pat_id_17588 neant B87.1 165955 240880004 C0344061 disease Miasi delle piaghe Miasis Miíase das feridas Myiase des plaies Myiasis, sekundäre Wound myiasis hrdo:pat_id_17589 neant B87.8 165958 disease Cavitary myiasis Miasi cavitaria Miasis cavitaria Miíase cavitária Myiase des cavités Myiasis des Kopfes hrdo:pat_id_1759 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 222760 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=digito+reno+cerebral%5Btw%5D+OR+Eronen+syndrome%5Btw%5D Q87.8 1674 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Brachidattilia - assenza delle falangi distali Braquidactilia - ausencia de falanges distales Eronen-Somer-Gustafsson syndrome Eronen-Somer-Gustafsson, síndrome de Eronen-Somer-Gustafsson-Syndrom Sindrome di Eronen-Somer-Gustafsson Syndrome d'Eronen-Somer-Gustafsson Síndrome de Eronen-Somer-Gustafsson Síndrome de Eronen-Somer-Gustafsson Digito-reno-zerebrales Syndrom Digitorenocerebral syndrome Sindrome digito-reno-cerebrale Syndrome digito-réno-cérébral Síndrome digito-reno-cerebral Síndrome digito-reno-cerebral hrdo:pat_id_17590 neant B87.0 165961 240879002 C0344060 group of phenomes Miasi sottocutanea Miasis subcutánea Miíase subcutânea Myiase sous-cutanée Myiasis, subkutane Subcutaneous myiasis hrdo:pat_id_17593 neant E16.1 165985 group of phenomes Hipoglucemia hiperinsulinémica, forma difusa sensible al diazóxido Hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form Hyperinsulinämische Hypoglykämie, Diazoxid-sensitive diffuse Form Hypoglycémie hyperinsulinémique, forme diffuse sensible au diazoxide Ipoglicemia iperinsulinemica, forma diffusa sensibile al diazossido Diazoxide-sensitive diffuse hyperinsulinism Hiperinsulinismo difuso, sensible al diazóxido Hiperinsulinismo difuso, sensível ao diazóxido Hyperinsulinisme diffus sensible au diazoxide Hyperinsulinismus, diffuser, Diazoxid-sensitiver Iperinsulinismo diffuso sensibile al diazossido hrdo:pat_id_17594 neant E16.1 165988 group of phenomes Hipoglucemia hiperinsulinémica, forma difusa resistente al diazóxido Hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form Hyperinsulinämische Hypoglykämie, Diazoxid-resistente diffuse Form Hypoglycémie hyperinsulinémique, forme diffuse résistante au diazoxide Ipoglicemia iperinsulinemica, forma diffusa resistente al diazossido Diazoxide-resistant diffuse hyperinsulinism Hiperinsulinismo difuso, resistente al diazóxido Hiperinsulinismo difuso, resistente ao diazóxido Hyperinsulinisme diffus résistant au diazoxide Hyperinsulinismus, diffuser, Diazoxid-resistenter Iperinsulinismo diffuso resistente al diazossido hrdo:pat_id_17595 610021 neant E16.1 165991 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease EIHI EIHI EIHI EIHI Exercise-induced hyperinsulinemic hypoglycemia HIIE Hiperinsulinismo por déficit de SLC16A1 Hiperinsulinismo por déficit del transportador de monocarboxilato 1 Hipoglucemia hiperinsulinémica inducida por el ejercicio Hyperinsulinism due to SLC16A1 deficiency Hyperinsulinism due to monocarboxylate transporter 1 deficiency Hyperinsulinisme par déficit en SLC16A1 Hyperinsulinisme par déficit en monocarboxylate transporter 1 Hyperinsulinismus durch Monocarboxylat-Transporter 1-Mangel Hyperinsulinismus durch SLC16A1-Mangel Hyperinsulinämische Hypoglykämie, anstrengungsinduzierte Hypoglycémie hyperinsulinémique induite par l'effort Iperinsulinismo da deficit del trasportatore monocarbossilato 1 Iperinsulinismo da deficit di SLC16A1 Ipoglicemia iperinsulinemica indotta dall'esercizio Exercise-induced hyperinsulinism Hiperinsulinismo inducido por ejercicio Hiperinsulinismo induzido pelo exercício Hyperinsulinisme induit par l'effort Hyperinsulinismus, anstrengungsinduzierter Iperinsulinismo indotto dall'esercizio hrdo:pat_id_17596 145650 neant E05.8 165994 disease Résistance pituitaire aux hormones thyroïdienne Schilddrüsenhormonresistenz vom thyreotoxischen Typ Resistencia hipofisaria selectiva a las hormonas tiroideas Resistenza ipofisaria selettiva agli ormoni tiroidei Resistência pituitária seletiva à hormona tiroideia Résistance hypophysaire aux hormones thyroïdiennes Selective pituitary resistance to thyroid hormone Selektive Hypophysen-Resistenz gegen Schilddrüsenhormone hrdo:pat_id_17597 600204 600969 614135 neant Q77.3 166002 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Displasia epifisaria multipla da anomalia del collagene 9 Displasia epifisaria múltiple por anomalía del colágeno 9 Displasia epifisária múltipla por anomalia no colagénio 9 Dysplasie épiphysaire multiple due à une anomalie du collagène 9 Dysplasie, epiphysäre multiple, durch Kollagen 9-Anomalie Multiple epiphyseal dysplasia due to collagen 9 anomaly hrdo:pat_id_17598 132450 neant Q77.3 166011 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia epifisaria multipla - miopia - sordità Displasia epifisaria múltiple - miopía - sordera Displasia múltiple epifisaria - miopía - sordera Dysplasie épiphysaire multiple - myopie - surdité Dysplasie, epiphysäre multiple - Myopie - Schwerhörigkeit Multiple epiphyseal dysplasia - myopia - deafness Displasia epifisaria multipla, tipo Beighton Displasia epifisaria múltiple tipo Beighton Displasia epifisária múltipla, tipo Beighton Dysplasie épiphysaire multiple type Beighton Dysplasie, epiphysäre multiple, Typ Beighton Multiple epiphyseal dysplasia, Beighton type hrdo:pat_id_17599 601560 neant Q78.8 166016 disease Displasia epifisaria multipla con fenotipo Robin Displasia epifisaria múltiple con fenotipo Robin Displasia múltiple epifisaria con fenotipo de Pierre Robin Dysplasie épiphysaire multiple avec phénotype de Robin Dysplasie, epiphysäre multiple, mit Robin Phänotyp Multiple epiphyseal dysplasia with Robin phenotype Displasia epifisaria multipla, tipo Lowry Displasia epifisaria múltiple tipo Lowry Displasia epifisária múltipla, tipo Lowry Dysplasie épiphysaire multiple type Lowry Dysplasie, epiphysäre multiple, Typ Lowry Multiple epiphyseal dysplasia, Lowry type hrdo:pat_id_176 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 233670 233690 233700 233710 306400 613960 D006105 10008906 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%22chronic+granulomatous+disease%22%5BTw%5D+NOT+medline%5Bsb%5D%29+OR+%22granulomatous+disease%2C+chronic%22%5BMeSH+Terms%5D D71 379 191352003 387759001 C0018203 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Chronic septic granulomatosis Granulomatose septique chronique Granulomatosi settica cronica Granulomatosis séptica crónica Chronic granulomatous disease Doença granulomatosa crónica Enfermedad granulomatosa crónica Granulomatose chronique Granulomatose, chronische Malattia granulomatosa cronica hrdo:pat_id_1760 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601016 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=cleft+lip+palate+hypotelorism+short+limbs 1678 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dismorfia facial - ambiguidade dos genitais - hipopituitarismo - membros curtos Dismorfismi facciali - genitali ambigui - ipopituitarismo - arti corti Dysmorphie - ambiguïté génitale - hypopituitarisme - membres courts Facial dysmorphism - ambiguous genitalia - hypopituitarism - short limbs Faziale Dysmorphien - intersexuelles Genitale - Hypopituitarismus - kurze Extremitäten Dincsoy-Salih-Patel syndrome Dincsoy-Salih-Patel-Syndrom Sindrome di Dincsoy-Salih-Patel Syndrome de Dincsoy-Salih-Patel Síndrome de Dincsoy-Salih-Patel Síndrome de Dincsoy-Salih-Patel hrdo:pat_id_17601 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 607131 neant Q77.3 166024 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia epifisaria multipla - macrocefalia - facies caratteristica Displasia epifisaria múltiple - macrocefalia - facies distintivas Displasia epifisaria múltiple - macrocefalia- facies distintivas Displasia múltiple epifisaria con macrocefalia - rostro distintivo Dysplasie épiphysaire multiple - macrocéphalie - faciès particulier Dysplasie, epiphysäre multiple - Makrozephalie - charakteristischer Gesichtsausdruck Multiple epiphyseal dysplasia - macrocephaly - distinctive facies Displasia epifisaria multipla, tipo Al Gazali Displasia epifisaria múltiple tipo Al-Gazali Displasia epifisária múltipla, tipo Al-Gazali Dysplasie épiphysaire multiple type Al-Gazali Dysplasie, epiphysäre multiple, Typ Al-Gazali Multiple epiphyseal dysplasia, Al-Gazali type hrdo:pat_id_17602 609324 neant Q77.3 166029 disease Displasia epifisaria multipla con displasia femorale prossimale grave Displasia epifisaria múltiple con displasia grave femoral proximal Displasia epifisária múltipla, com displasia femoral proximal grave Dysplasie épiphysaire multiple avec dysplasie fémorale sévère Dysplasie, epiphysäre multiple, mit schwerer proximaler Femur-Dysplasie Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia hrdo:pat_id_17603 609325 neant Q77.3 166032 disease Displasia epifisaria multipla con miniepifisi Displasia epifisaria múltiple con miniepífisis Displasia epifisária múltipla, com miniepifises Dysplasie épiphysaire multiple avec miniépiphyse Dysplasie, epiphysäre multiple, mit Miniepiphysen Multiple epiphyseal dysplasia, with miniepiphyses hrdo:pat_id_17604 250410 neant 166035 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Chondrodysplasie métaphysaire - rétinite pigmentaire Chondrodysplasie, metaphysäre - Retinitis pigmentosa Condrodisplasia metafisaria - retinite pigmentosa Condrodisplasia metafisaria - retinosis pigmentaria Condrodisplasia metafisária - retinite pigmentosa Metaphyseal chondrodysplasia - retinitis pigmentosa hrdo:pat_id_17605 250230 neant 166038 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Chondrodysplasie métaphysaire type Kaitila Chondrodysplasie, metaphysäre, Typ Kaitila Condrodisplasia metafisaria tipo Kaitila Condrodisplasia metafisaria, tipo Kaitila Condrodisplasia metafisária, tipo Kaitila Metaphyseal chondrodysplasia, Kaitila type hrdo:pat_id_17608 225753 C536716 neant Q04.3 166063 C1856974 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Encefalopatia infantile fatale con ipoplasia olivopontocerebellare Encefalopatía infantil fatal con hipoplasia olivopontocerebelosa Encefalopatía mortal infantil con hipoplasia olivopontocerebelosa Encéphalopathie fatale infantile avec hypoplasie olivopontocérébelleuse Fatal infantile encephalopathy with olivopontocerebellar hypoplasia Fatale infantile Enzephalopathie mit olivopontozerebellärer Hypoplasie Hipoplasia pontocerebelosa tipo 4 Hipoplasia pontocerebelosa tipo 4 Hypoplasie pontocérébelleuse type 4 Hypoplasie, pontozerebelläre, Typ 4 Ipoplasia pontocerebellare, tipo 4 Pontocerebellar hypoplasia type 4 hrdo:pat_id_17609 610204 neant Q04.3 166068 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Fetal-onset olivopontocerebellar hypoplasia Hipoplasia olivopontocerebelosa de aparición fetal Hipoplasia olivopontocerebelosa en el feto Hypoplasie olivopontocérébelleuse foetale Ipoplasia olivopontocerebellare a esordio fetale Olivopontozerebellärer Hypoplasie, fötale Hipoplasia olivopontocerebelosa, tipo 5 Hipoplasia pontocerebelosa tipo 5 Hypoplasie pontocérébelleuse type 5 Hypoplasie, pontozerebelläre, Typ 5 Ipoplasia pontocerebellare, tipo 5 Pontocerebellar hypoplasia type 5 hrdo:pat_id_1761 270600 C537481 G83.8 1680 C1849139 disease Little syndrome Little, síndrome de Little-Syndrom Sindrome di Little Syndrome de Little Síndrome de Little Diplegia espástica tipo infantil Diplegia spastica, tipo infantile Diplejia espástica tipo infantil Diplégie spastique infantile Infantile spastische Diplegie Spastic diplegia, infantile type hrdo:pat_id_17610 611523 C548074 neant Q04.3 166073 C1969084 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Encefalopatia infantile fatale con difetti della catena respiratoria mitocondriale Encefalopatía infantil fatal con defectos en la cadena respiratoria mitocondrial Encefalopatía mortal infantil con defectos en la cadena respiratoria mitocondrial Encéphalopathie fatale infantile avec anomalie de la chaine respiratoire mitochondriale Fatal infantile encephalopathy, with mitochondrial respiratory chain defects Fatale infantile Enzephalopathie mit mitochondrialen Atmungskettendefekten Hipoplasia olivopontocerebelosa, tipo 6 Hipoplasia pontocerebelosa tipo 6 Hypoplasie pontocérébelleuse type 6 Hypoplasie, pontozerebelläre, Typ 6 Ipoplasia pontocerebellare, tipo 6 Pontocerebellar hypoplasia type 6 hrdo:pat_id_17611 Variabel Variabile Variable Variable Variable Variable Variável 193400 D056725 neant D68.0 166078 128106003 C1264039 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Maladie de Willebrand type 1 Malattia di Willebrand, tipo 1 Von-Willebrand-Syndrom Typ 1 Willebrand disease type 1 Doença de Von Willebrand, tipo 1 Enfermedad de Von Willebrand tipo 1 Maladie de Von Willebrand type 1 Malattia di Von Willebrand, tipo 1 Von Willebrand disease type 1 Von-Willebrand-Syndrom Typ 1 hrdo:pat_id_17612 Variabel Variabile Variable Variable Variable Variable Variável 613554 D056728 neant D68.0 166081 128107007 C1264040 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo clinical subtype 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Maladie de Willebrand type 2 Malattia di Willebrand, tipo 2 Von-Willebrand-Syndrom Typ 2 Willebrand disease type 2 Doença de von Willebrand, tipo 2 Enfermedad de Von Willebrand tipo 2 Maladie de Von Willebrand type 2 Malattia di Von Willebrand, tipo 2 Von Willebrand disease type 2 Von-Willebrand-Syndrom Typ 2 hrdo:pat_id_17613 613554 neant D68.0 166084 359711001 359714009 87397002 C1282968 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Doença de Von Willebrand, tipo 2A Enfermedad de Von Willebrand tipo 2A Maladie de Von Willebrand type 2A Malattia di Von Willebrand, tipo 2A Von Willebrand disease type 2A Von-Willebrand-Syndrom Typ 2A hrdo:pat_id_17614 613554 neant D68.0 166087 19520006 359717002 359721009 C1282971 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Doença de Von Willebrand, tipo 2B Enfermedad de Von Willebrand tipo 2B Maladie de Von Willebrand type 2B Malattia di Von Willebrand, tipo 2B Von Willebrand disease type 2B Von-Willebrand-Syndrom Typ 2B hrdo:pat_id_17615 613554 neant D68.0 166090 359729006 C1282974 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Doença de Von Willebrand, tipo 2M Enfermedad de Von Willebrand tipo 2M Maladie de Von Willebrand type 2M Malattia di Von Willebrand, tipo 2M Von Willebrand disease type 2M Von-Willebrand-Syndrom Typ 2M hrdo:pat_id_17616 613554 neant D68.0 166093 359732009 C1282975 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Doença de Von Willebrand, tipo 2N Enfermedad de Von Willebrand tipo 2N Maladie de Von Willebrand type 2N Malattia di Von Willebrand, tipo 2N Von Willebrand disease type 2N Von-Willebrand-Syndrom Typ 2N hrdo:pat_id_17617 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 277480 D056729 neant D68.0 166096 128108002 C1264041 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Maladie de Willebrand type 3 Malattia di Willebrand, tipo 3 Von-Willebrand-Syndrom Typ 3 Willebrand disease type 3 Doença de Von Willebrand, tipo 3 Enfermedad de Von Willebrand tipo 3 Maladie de Von Willebrand type 3 Malattia di Von Willebrand, tipo 3 Von Willebrand disease type 3 Von-Willebrand-Syndrom Typ 3 hrdo:pat_id_17618 184840 C537494 neant Q87.5 166100 C1861481 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Sindrome di Stickler, tipo non oculare Stickler syndrome, nonocular type Stickler-Syndrom, nicht-okulärer Typ Sindrome di Stickler, tipo 3 Stickler syndrome type 3 Stickler-Syndrom Typ 3 Syndrome de Stickler type 3 Síndrome de Stickler tipo 3 Síndrome de Stickler, tipo 3 hrdo:pat_id_17619 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 166105 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Encefalomiopatia mitocondrial, tipo Ghezzi-Zeviani Encefalomiopatia mitocondriale infantile legata a FASTKD2 Encefalomiopatía mitocondrial infantil asociada con FASTKD2 Encéphalomyopathie mitochondriale infantile associée à FASTKD2 Enzephalomyopathie, mitochondriale, Typ Ghezzi-Zeviani FASTKD2-related infantile mitochondrial encephalomyopathy hrdo:pat_id_1762 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 600459 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28aneurysm%2C+dissecting+OR+arterial+dissection*%5Btw%5D%29+%28lentiginosis+OR+lentiginose*%29 Q87.8 1682 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Aortendissektion mit Lentiginosis Arterial dissection - lentiginosis Disección arterial con lentiginosis Dissection artérielle - lentiginose Dissecção arterial - lentiginose Dissezione arteriosa con lentigginosi hrdo:pat_id_17620 612292 neant 166108 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Déficit intelectual - hipotonía - dismorfismo facial Déficit intellectuel - hypotonie - dysmorphie faciale Intellectual deficit - hypotonia - facial dysmorphism Intelligenzminderung - Hypotonie - Gesichtsdysmorphie Ritardo mentale - ipotonia - dismorfismi facciali Atraso mental, tipo Birk-Barel Déficit intelectual tipo Birk-Barel Déficit intellectuel type Birk-Barel Geistige Retardierung Typ Birk-Barel Intellectual deficit, Birk-Barel type Ritardo mentale, tipo Birk-Barel hrdo:pat_id_17621 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 166113 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acrocheratosi di Bazex Acrocheratosi paraneoplastica Acrokeratosis of Bazex Acrokeratosis paraneoplastica Acrokératose of Bazex Acrokératose paranéoplasique Acroqueratosis de Bazex Acroqueratosis paraneoplásica Akrokeratose Typ Bazex Akrokeratose, paraneoplastische Bazex syndrome Bazex-Syndrom Sindrome di Bazex Syndrome de Bazex Síndrome de Bazex Síndrome de Bazex hrdo:pat_id_17622 166700 neant Q78.8 166119 disease Isolated osteopoikilosis Osteopoichilosi isolata Osteopoikilose, isolierte Osteopoiquilose isolada Osteopoiquilosis, aislada Ostéopoecilie isolée hrdo:pat_id_17624 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 125490 605594 neant K00.5 166260 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Capdepont teeth DGI-2 DGI-2 DGI-2 DGI-2 DI-2 DI-2 DI-2 DI-2 Denti di Capdepont Dentinogenesis imperfecta Typ Shields II Dentinogenesis imperfecta, Shields type 2 Dentinogenèse imparfaite type Shields 2 Dentinogénesis imperfecta Shields tipo 2 Dentinogénesis imperfecta, Shields tipo 2 Dientes de Capdepont Dysplasie de Capdepont Dentinogenesi imperfetta, tipo 2 Dentinogenesis imperfecta Typ 2 Dentinogenesis imperfecta type 2 Dentinogenèse imparfaite type 2 Dentinogénese imperfeita, tipo 2 Dentinogénesis imperfecta tipo 2 hrdo:pat_id_17625 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 125500 neant K00.5 166265 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Dentinogenesi imperfetta, tipo Shields 3 Dentinogenesis imperfecta , Shields type 3 Dentinogenesis imperfecta Typ Shields III Dentinogenèse imparfaite type Shields 3 Dentinogénesis imperfecta Shields tipo 3 Dentinogénesis imperfecta de Shields de tipo 3 Dentinogenesi imperfetta, tipo 3 Dentinogenesis imperfecta Typ 3 Dentinogenesis imperfecta type 3 Dentinogenèse imparfaite type 3 Dentinogénese imperfeita, tipo 3 Dentinogénesis imperfecta tipo 3 hrdo:pat_id_17626 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 184260 neant 166272 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Chondrodysplasia - dentinogenesis imperfecta - joint laxity Chondrodysplasie - Dentinogenesis imperfecta - Gelenkschlaffheit Chondrodysplasie - dentinogenèse imparfaite - laxité articulaire Chondrodysplasie de Goldblatt Condrodisplasia - dentinogenesi imperfetta - lassità articolare Condrodisplasia - dentinogénesis imperfecta - laxitud articular Condrodisplasia - dentinogénesis imperfecta - laxitud de las articulaciones Condrodisplasia de Goldblatt Condrodisplasia di Goldblatt Goldblatt chondrodysplasia Goldblatt-Chondrodysplasie Odonto-condrodisplasia Odontochondrodysplasia Odontochondrodysplasie Odontochondrodysplasie Odontocondrodisplasia Odontocondrodisplasia Goldblatt syndrome Goldblatt-Syndrom Sindrome di Goldblatt Syndrome de Goldblatt Síndrome de Goldblatt Síndrome de Goldblatt hrdo:pat_id_17627 604922 neant 166277 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia esquelética con huesos wormianos - fracturas múltiples - anomalías de la dentina Displasia scheletrica con ossa wormiane - fratture multiple - anomalia della dentina Dysplasie squelettique avec os wormien - fractures multiples - anomalie de la dentine Skeletal dysplasia with wormian bone - multiple fractures - dentin abnormality Skelettdysplasie mit Wormschen Knochen - multiplen Frakturen - Dentinanomalien Sindrome di Suarez-Stickler Suarez-Stickler syndrome Suarez-Stickler-Syndrom Syndrome de Suarez-Stickler Síndrome de Suarez-Stickler Síndrome de Suarez-Stickler hrdo:pat_id_17628 163800 608567 614090 D012804 10040639 neant 166282 36083008 C0037052 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Disfunción del nodo sinusal Disfunción del nódulo sinusal Disfunzione del nodo del seno Sinus node dysfunction Sinusknotensyndrom Maladie du noeud sinusal Sick sinus syndrome Sick-Sinus-Syndrom Sindrome del nodo del seno Síndrome del sinus enfermo Síndrome do nodo sinual hrdo:pat_id_17629 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q82.5 166286 239118007 C0473579 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Comedo nevus of the palm Comedonevus de la palma Komedonennaevus der Handflächen Nevo comedonico del palmo Nevo eccrino porocheratosico Nevus comedogénico en la palma Nevus exocrino poroqueratósico Nevus poroqueratósico ecrino PEODDN Porokeratotic eccrine nevus Nevo eccrino porocheratosico del dotto dermico e dell'ostio Nevo poroqueratótico écrino ostial e ductal dérmico Nevus poroqueratósico del ostio y conducto dérmico ecrinos Névus éccrin porokératotique Ostiumnaevus, ekkriner porokeratotischer Porokeratotic eccrine ostial and dermal duct nevus hrdo:pat_id_1763 126320 neant Q87.8 1683 malformation syndrome Distichiasi - anomalie cardiovascolari Distichiasis - anomalies cardio-vasculaires Distichiasis - congenital heart defects - peripheral vascular anomalies Distichiasis - kongenitaler Herzfehler - periphere vaskuläre Anomalien Distiquiase - cardiopatia congénita Distiquiasis anomalías cardiovasculares hrdo:pat_id_17630 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance D004184 neant B74.8 166291 73328005 C0012602 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dirofilariasi Dirofilariasis Dirofilariasis Dirofilariose Dirofilariose Dirofilaríase hrdo:pat_id_17631 neant G40.4 166295 group of phenomes Benign non-familial infantile seizures Convulsioni infantili non familiari benigne Convulsions infantiles bénignes non-familiales Convulsões infantis benignas, não familiares Crisis infantiles no familiares benignas Neugeborenenkrämpfe, benigne nicht-familiäre hrdo:pat_id_17632 neant G40.2 166299 disease Benign partial epilepsy of infancy with complex partial seizures Benigne Partialepilepsie der frühen Kindheit mit komplex fokalen Anfällen Epilepsia parcial benigna da infância com convulsões parciais complexas Epilepsia parcial benigna de la infancia con crisis parciales complejas Epilepsie bénigne partielle de l'enfant avec crises partielles complexes Epilessia parziale benigna dell'infanzia con convulsioni parziali complesse hrdo:pat_id_17633 neant G40.1 166302 disease Benign partial epilepsy with secondarily generalized seizures in infancy Benigne Partialepilepsie der frühen Kindheit mit sekundär generalisierten Anfällen Epilepsia parcial benigna con crisis con generalización secundaria en la infancia Epilepsia parcial benigna da infância com convulsões secundariamente generalizadas Epilepsie partielle bénigne du nourrisson avec crises généralisées secondaires Epilessia parziale benigna dell'infanzia con convulsioni generalizzate secondarie hrdo:pat_id_17634 neant 166305 disease Benign infantile seizures associated to mild gastroenteritis Convulsioni infantili benigne associate a gastroenterite moderata Convulsions infantiles bénignes associées à une gastroentérite modérée Convulsões infantis benignas associadas a gastroenterite ligeira Crisis infantiles benignas asociadas con gastroenteritis leve Krämpfe, beninge infantile, assoziiert mit milder Gastroenteritis hrdo:pat_id_17635 neant 166308 disease Benign infantile focal epilepsy with midline spikes and wave during sleep Epilepsia focal benigna de la infancia con puntas y ondas en línea media durante el sueño Epilepsia focal benigna infantil com pontas e ondas da linha média durante o sono Epilepsie focale infantile bénigne avec pointes-ondes centrales au cours du sommeil Epilessia focale infantile benigna con punte e onde sulla linea mediana durante il sonno Fokalepilepsie, beninge infantile, mit Midline-Spikes und Waves im Schlaf hrdo:pat_id_17636 166311 group of phenomes Benign partial infantile seizures Convulsioni infantili parziali benigne Convulsions infantiles partielles bénignes Convulsões infantis benignas parciais Crisis infantiles parciales benignas Partialepilepsie, benigne infantile hrdo:pat_id_17639 166409 disease Epilepsia fotosensitiva Epilepsia fotossensitiva Epilepsie photosensible Epilepsie, lichtsensitive Epilessia fotosensibile Photosensitive epilepsy hrdo:pat_id_17640 166412 disease Epilepsia refleja por agua caliente Epilepsia reflexa a água quente Epilepsie réflexe à l'eau chaude Epilessia riflessa da acqua calda Heißwasser-Reflexepilepsie Hot water reflex epilepsy hrdo:pat_id_17641 166415 disease Audiogenic seizures Convulsioni audiogeniche Convulsões audiogénicas Crises audiogènes Crisis inducidas por sonidos Reflexepilepsie, audiogene hrdo:pat_id_17642 166418 230450001 C0393725 disease Convulsioni da assunzione di cibo Convulsões alimentares Crises réflexes à la nourriture Crisis inducidas por alimentación Eating seizures Essepilepsie hrdo:pat_id_17643 166421 disease Convulsioni indotte dall'orgasmo Convulsões induzidas pelo orgasmo Crises induites par l'orgasme Crisis inducidas por orgasmo Krampfanfälle, Orgasmus-induzierte Orgasm-induced seizures hrdo:pat_id_17644 166424 disease Convulsioni legate all'attività mentale Convulsões induzidas pelo pensamento Crises induites par la pensée Crisis inducidas por pensamiento Denkepilepsie Thinking seizures hrdo:pat_id_17645 166427 disease Epilepsia del sobresalto Epilepsia do susto Epilepsie sursaut Epilessia indotta da sussulti Schreckepilepsie Startle epilepsy hrdo:pat_id_17646 166430 disease Convulsioni indotte dalla minzione Convulsões induzidas pela micção Crises induites par la miction Crisis inducidas por micción Micturation-induced seizures Miktionssynkope hrdo:pat_id_17647 166433 disease Convulsioni indotte dalla lettura Convulsões induzidas pela leitura Crises réflexes à la lecture Crisis por lectura Leseepilepsie Reading seizures hrdo:pat_id_17648 166457 group of phenomes Autres encéphalites limbiques non-paranéopalsiques Encefalite limbica non paraneoplastica, altre forme Encefalite límbica, não-paraneoplásica, outras formas Limbische Enzephalitis, nicht-paraneoplastische, weitere Formen Other forms of non-paraneoplastic limbic encephalitis Otras formas de encefalitis límbica no paraneoplásica hrdo:pat_id_17649 neant G40.4 166463 group of phenomes Epileptic syndrome Epileptische Syndrome Sindrome epilettica Syndrome épileptique Síndrome epiléptico Síndrome epiléptico hrdo:pat_id_17650 166466 group of phenomes Neurocutaneous syndrome with epilepsy Neurokutanes Syndrom mit Epilepsie Sindrome neurocutanea associata ad epilessia Syndrome neurocutané associé à une épilepsie Síndrome neurocutáneo con epilepsia Síndrome neurocutâneo com epilepsia hrdo:pat_id_17651 166469 group of phenomes Anomalia cromosomica con epilessia come segno principale Anomalia cromossómica com epilepsia como característica major Anomalie chromosomique avec épilepsie comme manifestation majeure Anomalía cromosómica con epilepsia como rasgo mayor Chromosomal anomaly with epilepsy as a major feature Chromosomenanomalie mit Epilepsie als Hauptmerkmal hrdo:pat_id_17652 166472 group of phenomes Doença monogénica com epilepsia Enfermedad monogénica con epilepsia Maladie monogénique avec épilepsie Malattia monogenica con epilessia Monogene Krankheit mit Epilepsie Monogenic disease with epilepsy hrdo:pat_id_17653 166475 group of phenomes Familiäres Epilepsiesyndrom, idiopathisches oder kryptogenes, mit bekanntem Gen/-ort Idiopathic or cryptogenic familial epileptic syndrome with identified loci/genes Sindrome epilettica familiare idiopatica o criptogenetica con geni/loci identificati Syndrome épileptique familial idiopathique ou cryptogénique avec gènes/loci identifiés Síndrome epiléptico familiar, idiopático o criptogénico, con genes/loci identificados Síndrome epiléptico familiar, idiopático ou criptogénico, com locus/gene identificado hrdo:pat_id_17654 166478 group of phenomes Cerebral malformation with epilepsy Malformación cerebral con epilepsia Malformations cérébrales associées à une épilepsie Malformazione cerebrale con epilessia Malformação cerebral com epilepsia Zerebrale Fehlbildung mit Epilepsie hrdo:pat_id_17655 166481 371022006 C1299598 group of phenomes Doenças metabólicas com epilepsia Enfermedades metabólicas con epilepsia Maladie métabolique associée à une épilepsie Malattia metabolica con epilessia Metabolic diseases with epilepsy Stoffwechselstörung mit Epilepsie hrdo:pat_id_17656 166484 group of phenomes Doença inflamatória e autoimune com epilepsia Enfermedad autoinmune e inflamatoria con epilepsia Inflammatorische und autoimmune Krankheit mit Epilepsie Inflammatory and autoimmune disease with epilepsy Maladie inflammatoire ou auto-immune associée à une épilepsie Malattia infiammatoria e autoimmune con epilessia hrdo:pat_id_17657 166487 group of phenomes Cerebral diseases of vascular origin with epilepsy Doença cerebral vascular com epilepsia Enfermedades cerebrales de origen vascular con epilepsia Maladie vasculaire cérébrale associée à une épilepsie Malattie cerebrali di origine vascolare con epilessia Zerebrale Gefäßkrankheiten mit Epilepsie hrdo:pat_id_17658 166490 group of phenomes Doença infecciosa com epilepsia Enfermedad infecciosa con epilepsia Infectious disease with epilepsy Infektionskrankheit mit Epilepsie Maladie infectieuse associée à une épilepsie Malattia infettiva con epilessia hrdo:pat_id_17672 neant 166775 group of phenomes Coagulopathie rare par déficit acquis en facteurs de coagulation Coagulopatia rara da difetto acquisito dei fattori della coagulazione Desorden hemorrágico raro debido a una anomalía plaquetaria adquirida Rare bleeding disorder due to an acquired coagulation factor defect Rare coagulopathy due to an acquired coagulation factor defect Blutgerinnungsstörung, erworbene Defeito adquirido da coagulação Disturbo emorragico raro da difetto acquisito dei fattori della coagulazione Maladie hémorragique rare par déficit acquis en facteurs de coagulation Rare hemorrhagic disorder due to an acquired coagulation factor defect Trastorno hemorrágico raro debido a una deficiencia adquirida de factores de coagulación hrdo:pat_id_17682 D053718 10055046 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Scleromyxoedema[ti]+OR+scleromyxedema[mh]+OR+scleromyxedema[ti] L98.5 167635 111197009 402468007 C0263390 disease Arndt-Gottron disease Arndt-Gottron-Syndrom Enfermedad de Arndt-Gottron Erupción papular liquenoide generalizada Eruzione papulosa lichenoide generalizzata Generalized lichenoid papular eruption Generalized papular and sclerodermoid lichen myxedematosus Lichen mixedematoso sclerodermoide e papuloso generalizzato Lichen myxoedematosus, papuläre sklerodermoide, generalisierte Variante Lichen myxoedémateux généralisé Líquen mixedematoso generalizado papular y esclerodermoide Maladie d'Arndt-Gottron Malattia di Arndt-Gottron Mixedematosis papular y esclerodermoide generalizada Mucinose papuloscléreuse généralisée Muzinose, lichenoide papuläre, generalisierte Variante Escleromixedema Escleromixedema Scleromixedema Scleromyxedema Scléromyxoedème Skleromyxödem hrdo:pat_id_17684 167714 group of phenomes Akute myeloische Leukämie, unklassifizierte Leucemia aguda mielóide não classificada Leucemia mieloide acuta non classificata Leucemia mieloide aguda no clasificada Leucémie myéloïde aiguë non-classifiée Unclassified acute myeloid leukemia hrdo:pat_id_17686 neant K00.5 167759 group of phenomes Anomalie héréditaire de la dentine Defecto hereditario de la dentina Deficiência hereditária da dentina Dentindefekt, hereditärer Difetto ereditario della dentina Hereditary dentin defect hrdo:pat_id_17687 167762 group of phenomes Dentinogenesi imperfetta sindromica Dentinogénese imperfeita sindrómica Enfermedad rara con dentinogénesis imperfecta Maladie rare avec dentinogénèse imparfaite Rare disease with dentinogenesis imperfecta Seltene Krankheit mit Dentinogenesis imperfecta hrdo:pat_id_177 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 303700 C536238 C538165 H53.5 16 24704003 C0339537 C2931753 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Achromatopsie atypique liée à l'X Achromatopsie incomplète liée à l'X Achromatopsie, atypische X-chromosomale Achromatopsie, inkomplette X-chromosomale Acromatopsia atipica legata all'X Acromatopsia atípica ligada al X Acromatopsia incompleta legata all'X Acromatopsia incompleta ligada al X Atypical X-linked achromatopsia Blue cone monochromacy Distrofia dos cones, ligada ao X Monochromatisme à cônes S Monocromatismo de cones azuis S cone monochromacy S cone monochromatism X-linked incomplete achromatopsia Acromatopsia incompleta, ligada ao X Blauzapfenmonochromasie Blue cone monochromatism Monochromatisme à cônes bleus Monocromatismo de conos azules Monocromatismo dei coni blu hrdo:pat_id_17712 D009202 10007636 167848 57809008 85898001 C0878544 group of phenomes Cardiomiopatía Cardiomiopatia Cardiomiopatia Cardiomyopathie Cardiomyopathy Kardiomyopathie Miocardiopatía hrdo:pat_id_1772 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 607864 neant Q87.8 1756 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Dipigo Dipigo Dipigo Dipygus Dipygus Dipygus Fenda do notocórdio, síndrome Sindrome da schisi della notocorda Split notochord syndrome Syndrom des 'Doppelsteiß' Syndrome de la chorde dorsale fendue Síndrome de notocorda dividida Síndrome fenda do notocórdio ’Split notochord’-Syndrom Caudal duplication Duplicación caudal Duplication caudale Duplicazione caudale Duplicação caudal Duplikation, kaudale hrdo:pat_id_1773 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=2309762%5Bpmid%5D+OR+11143474%5Bpmid%5D+OR+8884081%5Bpmid%5D+OR+8459012%5Bpmid%5D+OR+2394051%5Bpmid%5D+OR+10525205%5Bpmid%5D Q74.8 1757 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Beinverdoppelung - Fußverdoppelung Duplication de la jambe et du pied en miroir Duplicazione a specchio della gamba e del piede Duplicação da perna - pé em espelho Leg duplication - mirror foot Spiegelbildliche Polydaktylie - Duplikation des Fußes Dimelia peroneale - diplopodia Dimelia peroniana - diplopodia Dimélie fibulaire - diplopodie Duplicación de la pierna y del pie en espejo Fibular dimelia - diplopodia Fibuläre Dimelie - Diplopodie hrdo:pat_id_17740 168194 group of phenomes Rare cardiac tumor Seltener Herztumor Tumeur cardiaque rare Tumor cardíaco Tumor cardíaco raro Tumore cardiaco hrdo:pat_id_1776 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis 127350 1765 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Discondrosteose - nefrite Discondrosteosi - nefrite Discondrosteosis nefropatía Dyschondrosteose - Nephritis Dyschondrosteosis - nephritis Dyschondrostéose - néphropathie hrdo:pat_id_17761 183849 C535783 neant Q77.7 168443 C1866728 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia espondiloepimetafisaria - hipotricosis Displasia espondiloepimetafisária - hipotricose Displasia spondiloepimetafisaria - ipotricosi Dysplasie spondylométaphysaire - hypotrichose Dysplasie, spondyloepimetaphysäre - Hypotrichose Spondyloepimetaphyseal dysplasia - hypotrichosis hrdo:pat_id_17762 300232 neant Q77.7 168448 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia espondiloepimetafisaria tipo Bieganski Displasia espondiloepimetafisária, tipo Bieganski Displasia spondiloepimetafisaria, tipo Bieganski Dysplasie spondyloépimethaphysaire type Bieganski Dysplasie, spondyloepimetaphysäre, Typ Bieganski Spondyloepimetaphyseal dysplasia, Bieganski type hrdo:pat_id_17763 601668 neant Q77.7 168451 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia espondiloepimetafisaria - dentición anormal Displasia espondiloepimetafisária - dentição anormal Displasia spondiloepimetafisaria - anomalie della dentizione Dysplasie spondyloépimethaphysaire - dentition anormale Dysplasie, spondyloepimetaphysäre - gestörte Zahnentwicklung Spondyloepimetaphyseal dysplasia - abnormal dentition hrdo:pat_id_17764 610442 C535785 neant Q77.7 168454 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia espondiloepimetafisaria tipo Genevieve Displasia espondiloepimetafisária, tipo Genevieve Displasia spondiloepimetafisaria, tipo Genevieve Dysplasie spondyloépimethaphysaire type Geneviève Dysplasie, spondyloepimetaphysäre, Typ Genevieve Spondyloepimetaphyseal dysplasia, Genevieve type hrdo:pat_id_17765 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 610127 neant E75.4 168486 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CLN congénitale CLN10 Ceroid-Lipofuszinose, neuronale (CLN10) Congenital NCL Enfermedad LNC10 LNC congénita Lipofuscinosis neuronal ceroide 10 NCL congenita NCL congénitale NCL, kongenitale Ceroid-Lipofuszinose, neuronale, kongenitale Ceroidolipofuscinosi neuronale congenita Congenital neuronal ceroid lipofuscinosis Céroïde-lipofuscinose neuronale congénitale Lipofuscinose ceróide neuronal congénita Lipofuscinosis neuronal ceroide congénita hrdo:pat_id_17766 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 204500 256730 256731 600143 601780 610127 610951 neant E75.4 168491 14637005 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 CLN infantile tardive Jansky-Bielschowsky disease LINCL LINCL LINCL LNC tardía infantil Late infantile NCL Maladie de Jansky-Bielschowsky Malattia di Jansky-Bielschowsky NCL della tarda infanzia NCL infantile tardive NCL, spät-infantile Ceroid-Lipofuszinose, neuronale, spät-infantile Ceroidolipofuscinosi neuronale della tarda infanzia Céroïde-lipofuscinose neuronale infantile tardive Late infantile neuronal ceroid lipofuscinosis Lipofuscinose ceróide neuronal infantil tardia Lipofuscinosis neuronal ceroide tardía infantil hrdo:pat_id_17767 313420 neant Q77.8 168544 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia espondilometafisaria ligada a X Displasia espondilometafisaria ligada al cromosoma X Displasia spondilometafisaria legata all'X Dysplasie spondylométaphysaire liée à l'X Dysplasie, spondyloepimetaphysäre, X-chromosomale X-linked spondylometaphyseal dysplasia Displasia espondiloepimetafisaria tipo Golden Displasia espondilometafisária, tipo Golden Displasia spondilometafisaria, tipo Golden Dysplasie spondylométaphysaire de type Golden Dysplasie, spondyloepimetaphysäre, Typ Golden Spondylometaphyseal dysplasia, Golden type hrdo:pat_id_17768 602271 C535795 neant Q77.8 168549 C1865695 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Axial spondylometaphyseal dysplasia Displasia espondiloepimetafisaria axial Displasia espondilometafisária axial Displasia spondilometafisaria assiale Dysplasie spondylométaphysaire axiale Dysplasie, spondyloepimetaphysäre, axiale Form hrdo:pat_id_17769 607543 C535791 neant Q77.8 168552 C1843706 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia espondiloepimetafisaria - antebrazos arqueados - dismorfismo facial Displasia espondilometafisária - antebraços arqueados - dismorfismo facial Displasia spondilometafisaria - avambracci incurvati - dismorfismi facciali Dysplasie spondylométaphysaire - avant-bras incurvé - dysmorphie faciale Dysplasie, spondyloepimetaphysäre - gebogene Unterarme - Gesichtsdysmorphien Spondylometaphyseal dysplasia - bowed forearms - facial dysmorphism hrdo:pat_id_1777 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 224050 610185 613227 C535731 10013140 neant G11.8 1766 230782004 C0394006 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Ataxie cérébelleuse non-progressive - déficit intellectuel CAMRQ syndrome Cerebellar ataxia - intellectual deficit - dysequilibrium syndrome Non progressive cerebellar ataxia - intellectual deficit Dysequilibrium syndrome Dysäquilibrium-Syndrom Sindrome da disequilibrio Syndrome dysequilibrium Síndrome de desequilibrio Síndrome de desequilíbrio hrdo:pat_id_17770 609052 neant Q77.8 168555 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia espondiloepimetafisaria tipo A4 Displasia espondilometafisária, tipo A4 Displasia spondilometafisaria, tipo A4 Dysplasie spondylométaphysaire type A4 Dysplasie, spondyloepimetaphysäre, Typ A4 Spondylometaphyseal dysplasia, A4 type hrdo:pat_id_17771 613743 neant Q56.1 168558 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cambio de sexo XY - insuficiencia suprarrenal Inversión sexual XY - fallo adrenal Inversión sexual XY - fallo suprarrenal Reversione sessuale XY - insufficienza surrenalica XY sex reversal - adrenal failure XY-Geschlechtsumkehr - Nebennierenversagen 46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency Anomalie du développement sexuel 46,XY - insuffisance surrénalienne par déficit en CYP11A1 Disturbo dello sviluppo sessuale 46,XY - insufficienza surrenalica Doença do desenvolvimento sexual 46,XY - insuficiência suprarrenal Störung der Geschlechtsentwicklung 46,XY - Nebenniereninsuffizienz Trastorno del desarrollo sexual 46,XY - insuficiencia suprarrenal por déficit de CYP11A1 hrdo:pat_id_17772 607080 neant Q56.1 168563 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 XY-Gonadendysgenesie - minifaszikuläre Neuropathie 46,XY gonadal dysgenesis - motor and sensory neuropathy Disgenesia gonadal 46 XY - neuropatía motora y sensorial Disgenesia gonadica 46,XY - neuropatia sensitivo-motoria Disgenesia gonádica 46,XY - neuropatia motora e sensitiva Dysgénésie gonadique 46,XY - neuropathie motrice et sensitive Gonadendysgenesie 46,XY-Typ - motorisch-sensorische Neuropathie hrdo:pat_id_17773 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 610505 neant 168566 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Doença mitocondrial fatal por deficiência combinada da fosforilação oxidadativa 3 Enfermedad mitocondrial fatal debida a una deficiencia de fosforilación oxidativa tipo 3 combinada Fatal mitochondrial disease due to combined oxidative phosphorylation deficiency 3 Maladie mitochondriale fatale due à un déficit combiné de la phosphorylation oxydative de type 3 Malattia mitocondriale fatale da deficit combinato della fosforilazione ossidativa 3 Mitochondriale Krankheit durch kombinierten Defekt der oxidativen Phosphorylierung Typ 3 hrdo:pat_id_17774 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 602782 neant D76.3 168569 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 H syndrome H-Syndrom Sindrome H Syndrome H Síndrome H Síndrome H hrdo:pat_id_17775 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 255995 C538343 neant G71.2 168572 C1850625 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Congenital myopathy - cleft palate - malignant hyperthermia Miopatia congenita - palatoschisi - ipertermia maligna Miopatía congénita - paladar hendido - hipertemia maligna Myopathie congénitale - fente palatine - hyperthermie maligne Miopatia dei Nativi Americani Miopatia nativo-americana Miopatía de los nativos amerindios Myopathie des natifs amérindiens Native American myopathy Native-American-Myopathie hrdo:pat_id_17776 608885 neant D58.8 168577 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CHC tipo 2 CHC type 2 CHC type 2 CHC type 2 CHC, tipo 2 Criohidrocitosis con déficit de estomatina Criohidrocitosis hereditaria tipo 2 Crioidrocitosi con deficit di stomatina Crioidrocitosi ereditaria, tipo 2 Cryohydrocytose avec déficit en stomatine Cryohydrocytose héréditaire type 2 Hereditary cryohydrocytosis type 2 Hereditäre Kryohydrozytose Typ 2 Kryohydrozytose vom Stomatin-Mangeltyp Stomatin-deficient cryohydrocytosis sdCHC sdCHC sdCHC sdCHC sdCHC Criohidrocitose hereditária com estomatina reduzida Criohidrocitosis hereditaria con estomatina reducida Crioidrocitosi ereditaria con riduzione della stomatina Cryohydrocytose héréditaire avec réduction de stomatine Hereditary cryohydrocytosis with reduced stomatin Kryohydrozytose mit reduziertem Stomatin, hereditäre Form hrdo:pat_id_17777 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 604901 neant K74.6 168583 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cirrhose héréditaire des enfants indiens d'Amérique du Nord Cirrose infantil hereditária em índios norte-americanos Cirrosi infantile ereditaria degli Indiani del Nord America Cirrosis hereditaria de los niños indios de América del Norte Hereditary North American Indian childhood cirrhosis Leberzirrhose, hereditäre, nordamerikanische-indianische hrdo:pat_id_17778 604931 614662 neant E25.8 168588 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 11-beta-Hydroxysteroid-Dehydrogenase-Mangel Typ I 11-beta-hydroxysteroid dehydrogenase deficiency type 1 Deficiencia de 11-beta-hidroxiesteroide deshidrogenasa tipo I Deficit di 11-beta-idrossisteroido deidrogenasi, tipo 1 Déficit de 11-beta-hidroxiesteroide deshidrogenasa de tipo 1 Déficit en 11-béta-hydroxystéroïde déhydrogénase de type 1 Hiperandrogenismo debido a deficiencia de cortisona reductasa Hiperandrogenismo por deficiência da cortisona-reductase Hyperandrogenism due to cortisone reductase deficiency Hyperandrogenismus durch Cortison-Reduktase-Mangel Hyperandrogénie due à un déficit en cortisone réductase Iperandrogenismo da deficit di cortisone reduttasi hrdo:pat_id_17779 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 608800 neant G90.8 168593 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SIDDT SIDDT SIDDT SIDDT Mort subite du nourrisson - dysgénésie des testicules Morte improvvisa del neonato - disgenesia dei testicoli Muerte infantil súbita - disgenesia de los testículos Plötzlicher Kindstod - Hodendysgenesie Sudden infant death - dysgenesis of the testes Síndrome da morte súbita infantil e disgenesia testicular hrdo:pat_id_1778 193005 neant H83.8 1767 disease Disfunción vestibulococlear progresiva familiar Disfunzione vestibolo-cocleare progressiva familiare Disfunção vestibulo-coclear progressiva tipo familiar Dysfonctionnement vestibulocochléaire progressif familial Familial progressive vestibulocochlear dysfunction Vestibulocochleäre Dysfunktion, progressive, familiärer Typ hrdo:pat_id_17780 250850 neant E72.1 168598 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficiencia de MAT Deficiencia de MAT I/III Deficiencia de metionina adenosiltransferasa Deficit di MAT Deficit di MAT I/III Deficit di metionina adenosiltransferasi Desmielinización cerebral debida a una deficiencia de metionina adenosiltransferasa Déficit de MAT Déficit de MAT I/III Déficit de metionina adenosiltransferasa Déficit en MAT Déficit en MAT I/III Déficit en méthionine adénosyltransférase MAT I/III deficiency MAT I/III-Mangel MAT deficiency MAT-Mangel Methionin-Adenosyltransferase-Mangel Methionine adenosyltransferase deficiency Brain demyelination due to methionine adenosyltransferase deficiency Demielinizzazione cerebrale da deficit di metionina-adenosil-transferasi Demyelinisierung des Gehirns durch Methionin-Adenosyltransferase-Mangel Desmielinización cerebral debida a un déficit de metionina adenosiltransferasa Desmielinização cerebral por deficiência de metionina adenosiltransferase Démyélinisation du cerveau due à un déficit en méthionine adénosyltransférase hrdo:pat_id_17781 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 226200 neant K90.8 168601 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Congenital enterokinase deficiency Deficiencia congénita de enteroquinasa Deficit congenito di enterochinasi Déficit congénital en entérokinase Déficit congénito de enteroquinasa Enterokinase-Mangel, kongenitaler Congenital enteropathy due to enteropeptidase deficiency Enteropathie, kongenitale, durch Enteropeptidase-Mangel Enteropatia congenita da deficit di enteropeptidasi Enteropatia congénita por deficiência de enteropeptidase Enteropatía congénita debida a un déficit de enteropeptidasa Entéropathie congénitale due à un déficit de l'entéropeptidase hrdo:pat_id_17782 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 610227 neant 168606 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dermatite seborréica-like com elementos psoriasiformes Dermatite simil-seborroica con elementi psoriasiformi Dermatite séborrhéïque-like avec des éléments psoriasiques Dermatitis seborreica-like con elementos psoriasiformes Seborrhea-like dermatitis with psoriasiform elements Seborrhö-ähnliche Dermatitis mit psoriasiformen Ausschlägen hrdo:pat_id_17783 Variabel Variabile Variable Variable Variable Variable Variável 580000 neant 168609 Herencia mitocondrial Hérédité mitochondriale Mitochondrial inheritance Mitochondrial inheritance Mitochondriale Vererbung Modo de hereditariedade mitocondrial Trasmissione mitocondriale etiological subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hipoacusia neurosensorial mitocondrial aislada susceptible a una exposición a aminoglucósidos Hipoacusia neurosensorial mitocondrial no sindrómica susceptible a una exposición a aminoglucósidos Hörverlust, isolierter mitochodrialer neurosensorischer, mit erhöhter Empfindlichkeit gegen Aminoglykoside Mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure Mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure Mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure Mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure Mitochondrial nonsyndromic neurosensory deafness with susceptibility to aminoglycoside exposure Mitochondrial nonsyndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure Mitochondrial nonsyndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure Perdita dell'udito neurosensoriale isolata mitocondriale con suscettibilità all'esposizione ad aminoglicosidi Perdita dell'udito neurosensoriale non sindromica mitocondriale con suscettibilità all'esposizione ad aminoglicosidi Sordera neurosensorial mitocondrial aislada susceptible a una exposición a aminoglucósidos Sordera sensorineural mitocondrial no sindrómica susceptible a una exposición a aminoglucósidos Sordità neurosensoriale isolata mitocondriale con suscettibilità all'esposione ad aminoglicosidi Surdité de perception mitochondriale isolée secondaire à une exposition aux aminoglycosides Surdité de perception mitochondriale non syndromique secondaire à une exposition aux aminoglycosides Surdité neurosensorielle mitochondriale isolée secondaire à une exposition aux aminoglycosides Mitochondrial nonsyndromic sensorineural deafness with susceptibility to aminoglycoside exposure Schwerhörigkeit, mitochondriale nichtsyndromale sensorineurale, mit erhöhter Empfindlichkeit gegen Aminoglykoside Sordera neurosensorial mitocondrial no sindrómica susceptible a una exposición a aminoglucósidos Sordità sensorineurale non sindromica mitocondriale con suscettibilità all'esposizione ad aminoglicosidi Surdez hereditária não-sindrómica com suscetibilidade à exposição a aminoglicosídeos Surdité neurosensorielle mitochondriale non syndromique secondaire à une exposition aux aminoglycosides hrdo:pat_id_17784 neant 168612 morphological anomaly AFP-Mangel, kongenitaler Congenital deficiency in alpha-fetoprotein Deficit congenito di alfa-feto-proteina Deficiência congénita de alfa-fetoproteína Déficit congénital en alpha-foetoprotéine Déficit congénito de alfa-fetoproteína hrdo:pat_id_17785 neant 168615 malformation syndrome Alpha-Fetoprotein-Persistenz, hereditäre Hereditary persistence of alpha-fetoprotein Persistence héréditaire en alpha-foetoprotéine Persistencia hereditaria de alfa-fetoproteína Persistenza ereditaria dell'alfa-fetoproteina Persistência hereditária de alfa-fetoproteína hrdo:pat_id_17787 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q78.8 168621 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Displasia de Meyer de la cabeza femoral Displasia da cabeça do femur, tipo Meyer Displasia de la cabeza femoral de tipo Meyer Displasia della testa del femore, tipo Meyer Dysplasia of head of femur, Meyer type Dysplasie de la tête du fémur type Meyer Femurkopfdysplasie Typ Meyer hrdo:pat_id_17788 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 609579 neant Q87.0 168624 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Escafocefalia - macrocefalia - retrusión maxilar - déficit intelectual Scafocefalia - macrocefalia - retrusione mandibolare - ritardo mentale Scaphocephaly - macrocephaly - maxillary retrusion - intellectual deficit Scaphocéphalie - macrocéphalie - rétrusion maxillaire - déficit intellectuel Skaphokephalie - Makrozephalie - Oberkieferretrusion - Intelligenzminderung Familial scaphocephaly syndrome, McGillivray type Scaphocéphalie familiale type McGillivray Sindrome da scafocefalia familiare, tipo McGillivray Skaphozephalie-Syndrom, familiäres, Typ McGillivray Síndrome de escafocefalia familiar tipo McGillivray Síndrome de escafocefalia familiar, tipo McGillivray hrdo:pat_id_17789 188000 273900 612004 neant D69.4 168629 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate etiological subtype Autosomal thrombocytopenia with normal platelets Thrombocytopénie autosomique avec plaquettes normales Thrombozytopenie mit normalen Plättchen, autosomale Form Trombocitopenia autosomica con piastrine normali Trombocitopenia autosómica con plaquetas normales Trombocitopenia não-síndrómica hrdo:pat_id_17790 605827 neant Q82.5 168632 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Generalized basaloid follicular hamartoma syndrome Sindrome da amartoma follicolare basaloide generalizzato Syndrom der generalisierten basaloiden follikulären Hamartome Syndrome d'hamartome basaloïde folliculaire généralisé Síndrome de hamartoma folicular basaloide generalizado Síndrome hamartoma folicular basalóide, generalizado hrdo:pat_id_17791 D002659 10061345 neant F84 168778 35919005 C0524528 group of phenomes Autism spectrum disorder Autismusspektrumstörung Disturbi dello spettro autistico Trastorno del espectro autista Troubles du spectre autistique Disturbi pervasivi dello sviluppo Doença global do desenvolvimento Pervasive developmental disorder Tiefgreifende Entwicklungsstörung Trastorno pervasivo del desarrollo Trouble envahissant du développement hrdo:pat_id_17792 10008522 neant F84.3 168782 71961003 C0236791 disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Demencia infantil Dementia Infantilis Dementia Infantilis Dementia infantilis Demenza infantile Démence infantile Heller syndrome Heller-Syndrom Sindrome di Heller Syndrome de Heller Síndrome de Heller Childhood disintegrative disorder Disintegrative Störung der Kindheit Disturbo disintegrativo dell'infanzia Doença desintegrativa infantil Syndrome désintégratif de l'enfance Trastorno desintegrativo de la infancia hrdo:pat_id_17793 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 610140 C535852 neant Q87.2 168796 C1857829 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atrio-digital dysplasia, Slovenian type Cardiac conduction disease - dilated cardiomyopathy - brachydactyly Dysplasie atriodigitale type slovène Syndrome coeur-main type slovène Syndrome coeur-membres type slovène Trouble du rythme - cardiomyopathie dilatée - brachydactylie Heart-hand syndrome, Slovenian type Herz-Hand-Syndrom, Slowenischer Typ Sindrome cuore-mano, tipo Sloveno Syndrome cardiomélique type slovène Síndrome corazón-mano tipo esloveno Síndrome mão-coração, tipo esloveno hrdo:pat_id_17794 168803 group of phenomes Peritonealtumor, primärer Primary peritoneal tumor Tumeur péritonéale primaire Tumor primario peritoneal Tumor primário peritoneal Tumore peritoneale primario hrdo:pat_id_17795 neant C48.2 168807 group of phenomes Peritonealtumor, maligner primärer Primary malignant peritoneal tumor Tumeur péritonéale primaire maligne Tumor peritoneal maligno primário Tumor primario peritoneal maligno Tumore peritoneale maligno primario hrdo:pat_id_17796 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 156240 10056558 neant 168811 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Diffuse malignant peritoneal mesothelioma Mesotelioma peritoneal maligno difuso Mesotelioma peritoneal maligno primario Mesotelioma peritoneale maligno diffuso Mesotelioma peritoneale maligno primitivo Mesotheliom, malignes primäres Mésothéliome malin primitif Mésothéliome péritonéal malin diffus Primary malignant peritoneal mesothelioma Malignant peritoneal mesothelioma Mesotelioma peritoneal maligno Mesotelioma peritoneal maligno Mesotelioma peritoneale maligno Mésothéliome péritonéal malin Peritonealmesotheliom, malignes hrdo:pat_id_17797 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant C48.2 168816 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Benign multicystic peritoneal mesothelioma Cisti peritoneale multioculare da inclusione Inklusionszyste, multilokuläre peritoneale Kyste à inclusion péritonéal multiloculaire Mesotelioma multicistico Mesotelioma multiquístico Mesotelioma multiquístico peritoneal benigno Mesotelioma peritoneal multiquístico benigno Mesotelioma peritoneale multicistico benigno Mesotheliom, beninges mulitzystisches peritoneales Mesotheliom, multizystisches Multicystic mesothelioma Multilocular peritoneal inclusion cyst Mésothéliome multikystique Mésothéliome péritonéal multikystique bénin Quiste de inclusión multilocular peritoneal Quiste de inclusión peritoneal multilocular Mesotelioma cistico peritoneale Mesotelioma peritoneal quístico Mesotelioma quistico peritoneal Mésothéliome kystique du péritoine Peritoneal cystic mesothelioma Peritonealmesotheliom, zystisches hrdo:pat_id_17798 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant C48.2 168829 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CPP CPP CPPEO Carcinoma papilar de la superficie serosa Carcinoma papillare superficiale sieroso Carcinoma peritoneal primario seroso Carcinoma peritoneale primitivo extra-ovarico Carcinoma primario peritoneal extraovárico Carcinoma sieroso peritoneale primitivo Carcinome papillaire séreux du péritoine Carcinome péritonéal primitif extra-ovarien Carcinome séreux péritonéal primitif Ccarcinome séreux primitif du péritoine EOPPC EOPPC EOPPC Extra-ovarian primary peritoneal carcinoma Oberflächenkarzinom, seröses papilliäres PPC PPC PPC Primary peritoneal serous carcinoma Serous surface papillary carcinoma Carcinoma peritoneal primário Carcinoma peritoneale primitivo Carcinoma primario peritoneal Carcinome péritonéal primaire Peritonealkarzinom, primäres Primary peritoneal carcinoma hrdo:pat_id_1780 Normal Normal Normal Normal Normal Normal Normale Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Gonadal+Dysgenesis%2C+Mixed%5Bmh%5D+OR+Gonadal+dysgenesis%5Bti%5D+mixed%5Bti%5D Q98.7 1772 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown 45,X/46,XY MGD 45,X/46,XY MGD 45,X/46,XY MGD 45,X0/46,XY MGD 45,X0/46,XY MGD 45,X0/46,XY MGD 45,X0/46,XY mixed gonadal dysgenesis Disgenesia gonadal mixta 45,X0/46,XY Disgenesia gonadica mista 45,X0/46,XY Dysgénésie gonadique mixte 45,X0/46,XY Gonadendysgenesie, gemischte, 45,X0/46,XY MGD 45,X/46,XY MGD 45,X/46,XY MGD 45,X0/46,XY MGD 45,X0/46,XY 45,X/46,XY mixed gonadal dysgenesis 45,X/46,XY-Gonadendysgenesie, gemischte Disgenesia gonadal mista Disgenesia gonadal mixta 45,X/46,XY Disgenesia gonadica mista 45,X/46,XY Dysgénésie gonadique mixte 45,X/46,XY hrdo:pat_id_17800 10065854 neant D47.5 168940 188733003 413836008 C0346421 disease Chronic eosinophilic leukemia Leucemia eosinofilica cronica Leucemia eosinofílica crónica Leucemia eosinofílica crónica Leucémie chronique éosinophile Leukämie, chronische eosinophile hrdo:pat_id_17801 168943 group of phenomes Myeloid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB or FGFR1 Myeloproliferative Neoplasie mit assoziierter Eosinophilie und Veränderungen von PDGFRA, PDGFRB oder FGRF1 Neoplasias mielóides associadas a eosinofilia e anomalia de PDGFRA, PDGFRB ou FGRF1 Neoplasie mieloidi associate ad eosinofilia e anomalie di PDGFRA, PDGFRB o FGRF1 Neoplasías mieloides asociadas a eosinofilia y anormalidad de PDGFRA, PDGFRB o FGFR1 Tumeur myéloïde avec éosinophiles associée à une anomalie de PDGFRA, PDGFRB ou FGFR1 hrdo:pat_id_17802 168947 disease Myeloid neoplasm associated with PDGFRA rearrangement Myeloproliferative Neoplasie mit assoziiertem PDGFRA-Gen-Rearrangement Neoplasia mieloide associata a riarrangiamento di PDGFRA Neoplasias mielóides associadas a rearranjos do PDGFRA Neoplasías mieloides asociadas a un reordenamiento de PDGFRA Tumeur myéloïde associée à un réarrangement de PDGFRA hrdo:pat_id_17803 168950 disease Myeloid neoplasm associated with PDGFRB rearrangement Myeloproliferative Neoplasie mit assoziiertem PDGFRB-Gen-Rearrangement Neoplasia mieloide associata a riarrangiamento di PDGFRB Neoplasias mielóides associadas a rearranjos do PDGFRB Neoplasías mieloides asociadas a un reordenamiento de PDGFRB Tumeur myéloïde associée à un réarrangement de PDGFRB hrdo:pat_id_17804 613523 neant 168953 disease 8p11 myeloproliferative syndrome 8p11-myeloproliferatives Syndrom Leucemia/linfoma de células madre Leucemia/linfoma delle cellule staminali Sindrome mieloproliferativa 8p11 Stammzell-Lymphom/Leukämie Stem cell leukemia/lymphoma Syndrome myéloprolifératif 8p11 Síndrome 8p11 mieloproliferativo Síndrome mieloproliferativo 8p11 Myeloid neoplasm associated with FGFR1 rearrangement Myeloproliferative Neoplasie mit assoziiertem FGR1-Gen-Rearrangement Neoplasia mieloide associata a riarrangiamento di FGR1 Neoplasias mielóides associadas a rearranjos do FGR1 Neoplasías mieloides asociadas a un reordenamiento de FGR1 Tumeur myéloïde associée à un réarrangement de FGFR1 hrdo:pat_id_17805 Variabel Variabile Variable Variable Variable Variable Variável D017681 10048643 neant D47.5 168956 128835008 C1540912 disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Hypereosinophile Syndrome Hypereosinophilic syndrome Sindromi ipereosinofile Syndrome hyperéosinophilique Síndromes hipereosinofílicos Síndromes hipereosinofílicos hrdo:pat_id_17806 neant D46.3 168960 110000005 128848007 C0280028 disease AREB-t RAEB-t RAEB-t RAEB-t RAEB-t Anemia refractaria con exceso de blastos en transformación Anemia refrattaria con eccesso di blasti in trasformazione Anemia refratária com excesso de blastos em transformação Anémie réfractaire avec excès de blastes en transformation Refractory anemia with excess blasts in transformation Refraktäre Anämie mit Vermehrung von Blasten in Transformation hrdo:pat_id_17807 D058617 168966 128798004 C0545080 C1266191 disease Composite Hodgkin and non-Hodgkin lymphoma Kombinationslymphom von HL und Non-HL Linfoma Hodgkin y no Hodgkin compuesto Linfoma composito di Hodgkin e non-Hodgkin Linfoma de Hodgkin y no Hodgkin compuesto Lymphome composite Hodgkinien et non Hodgkinien Composite lymphoma Kombinationslymphome Linfoma composito Linfoma composto Linfoma compuesto Lymphome composite hrdo:pat_id_17808 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 612713 neant E77.8 168972 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CDG-Syndrom durch Steroid 5alpha-Reduktase Typ 3-Mangel Deficit cognitivo - cataratta - coloboma - cifosi Deficit cognitivo, tipo Kahrizi Deficit di steroido 5 alfa-reduttasi 3 Disturbo congenito della glicosilazione da deficit di steroido 5alfa-reduttasi tipo 3 Déficit de esteroide 5 alfa-reductasa Déficit intelectual - cataratas - coloboma - cifosis Déficit intelectual - cataratas - coloboma - quifosis Déficit intelectual, tipo Kahrizi Déficit intellectuel - cataracte - colobome -cyphose Déficit intellectuel type Kahrizi Intellectual deficit - cataract - coloboma - kyphosis Intellectual deficit, Kahrizi type Intelligenzminderung - Katarakt - Kolobom - Kyphose Kahrizi-Syndrom SRD5A3-CDG Sindrome di Kahrizi Síndrome de Kahrizi Trastorno congénito de la glicosilación por déficit de esteroide 5-alfa-reductasa tipo 3 Atraso mental, tipo Kahrizi Intelligenzminderung Typ Kahrizi Kahrizi syndrome Sindrome SRD5A3-CDG Syndrome de Kahrizi Síndrome SRD5A3-CDG hrdo:pat_id_17810 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613089 neant Q87.3 168984 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CLAPO syndrome CLAPO-Syndrom Sindrome CLAPO Syndrome CLAPO Síndrome CLAPO Síndrome CLAPO hrdo:pat_id_17811 168999 disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Malignant melanoma of the mucosa Malignes Melanom der Mukosa Melanoma maligno da mucosa Melanoma maligno delle mucose Melanoma maligno mucoso Mélanome malin muqueux hrdo:pat_id_17815 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 611291 neant D81.1 169079 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo etiological subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cernunnos XLFD Cernunnos XLFD Cernunnos deficiency Combined immunodeficiency - microcephaly - growth retardation - sensitivity to ionizing radiation Deficiencia de NHEJ1 Deficiencia de cernunnos Deficiencia de cernunnos-XLF Deficit di Cernunnos Deficit di NHEJ1 Déficit de NHEJ1 Déficit de cernunnos Déficit en NHEJ1 Déficit en cernunnos Déficit immunitaire combiné - microcéphalie - retard de croissance - sensibilité aux radiations ionisantes Immunodeficienza combinata - microcefalia - ritardo della crescita - sensibilità alle radiazioni ionizzanti Inmunodeficiencia combinada - microcefalia - retraso en el crecimiento - sensibilidad a la radiación ionizante NHEJ1 deficiency XLFD di Cernunnos Cernunnos-XLF deficiency Deficit di Cernunnos-XLF Déficit de cernunnos-XLF Déficit en cernunnos-XLF Immundefekt, kombinierter schwerer - Mikrozephalie - Wachstumsretardierung - Strahlenempfindlichkeit Imunodeficiência combinada grave - microcefalia - atraso de crescimento - sensibilidade às radiações ionizantes hrdo:pat_id_17816 neant D81.2 169082 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Combined immunodeficiency due to CD3gamma deficiency Déficit immunitaire combiné dû à un déficit en CD3gamma Immundefekt, kombinierter, durch CD3-gamma-Mangel Immunodeficienza combinata da deficit di CD3gamma Imunodeficiência combinada por deficiência em CD3 gama Inmunodeficiencia combinada debida a un déficit de CD3gamma hrdo:pat_id_17817 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 608957 neant D84.8 169085 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CD8-Mangel, familiärer Deficiencia familiar de CD8 Deficit familiare di CD8 Déficit de CD8 familiar Déficit familial en CD8 Familial CD8 deficiency Erhöhte Anfälligkeit für Atemwegsinfektionen durch CD8-Mangel Susceptibilidad a infecciones respiratorias asociadas con mutaciones en la cadena CD8alpha Susceptibility to respiratory infections associated with CD8alpha chain mutation Susceptibilité aux infections respiratoires associée à une mutation de la chaîne alpha de CD8 Suscetibilidade a infeções respiratórias associada com mutação na cadeia CD8alfa Suscettibilità alle infezioni respiratorie associata alla mutazione della catena di CD8alfa hrdo:pat_id_17818 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 612782 612783 neant D81.8 169090 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo etiological subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Disfunción inmune por la inactivación de células T por un defecto de la entrada de calcio Disfunzione immunitaria dovuta a inattivazione dei linfociti T da difetto di ingestione del calcio Immune dysfunction due to T-cell inactivation due to calcium entry defect TMEM142-Mangel Combined immunodeficiency due to CRAC channel dysfunction Déficit immunitaire combiné dû à un dysfonctionnement du canal CRAC Immundefekt, kombinierter schwerer, durch Defekt des CRAC-Kanals Immunodeficienza combinata da disfunzione del canale CRAC Imunodeficiência combinada grave por anomalia do canal CRAC Inmunodeficiencia combinada por disfunción en el canal CRAC hrdo:pat_id_17819 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601705 neant D82.8 169095 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficiencia de de la hélice alada Deficit "winged helix" Deficit dell'elice alata Déficit de la hélice alada Déficit en hélice "winged" Winged helix deficiency Winged-Helix-Nude (WHN)-Defekt Immunodeficienza grave dei linfociti T - alopecia congenita - distrofia ungueale Immunodéficience sévère en cellules T - alopécie congénitale - dystrophie des ongles Imunodeficiência grave de células T - alopecia congénita - distrofia das unhas Inmunodeficiencia severa de linfocitos T - alopecia congénita - distrofia ungueal Schwerer T-Zell-Immundefekt - kongenitale Alopezie - Nageldystrophie Severe T-cell immunodeficiency - congenital alopecia - nail dystrophy hrdo:pat_id_1782 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 218340 C536959 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Craniofacial+%28abnormalities+OR+dysmorphism%29+coloboma+AND+corpus+callosum Q87.8 1777 C1857512 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Craniofacial dysmorphism - coloboma - corpus callosum agenesis Dismorfia craneofacial - coloboma - agenesia del cuerpo calloso Dismorfismi craniofacciali - coloboma - agenesia del corpo calloso Dysmorphie craniofaciale - colobome - agénésie du corps calleux Kraniofaziale Dysmorphien - Kolobome - Corpus-callosum-Agenesie Sindrome di Temtamy-Shalash Syndrome de Temtamy-Shalash Síndrome de Temtamy-Shalash Síndrome de Temtamy-Shalash Temtamy-Shalash syndrome Temtamy-Shalash, síndrome de Temtamy-Shalash-Syndrom Dismorfia craniofacial - coloboma - agenesia do corpo caloso Sindrome di Temtamy Syndrome de Temtamy Síndrome de Temtamy Temtamy syndrome Temtamy-Syndrom hrdo:pat_id_17820 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 606367 neant D81.2 169100 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Defekt der Interleukin-2R alpha-Kette Deficiencia de cadena alpha del receptor de la interleuquina 2 Deficit della catena alfa del recettore dell'interleuchina-2 Déficit de la cadena alfa del receptor de la interleuquina-2 Déficit en chaine alpha du recepteur de l'interleukine-2 Interleukin-2 receptor alpha chain deficiency Immundefekt durch CD25-Mangel Immunodeficiency due to CD25 deficiency Immunodeficienza da deficit di CD25 Immunodéfience due à un déficit en CD25 Imunodeficiência por deficiência de CD25 Inmunodeficiencia debida a déficit de CD25 hrdo:pat_id_17821 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 169105 disease Inmunodeficiencia con timoma Thymom - Immundefekt Thymoma-immunodeficiency Thymome-immunodéficience Timoma - immunodeficienza Timoma-immunodeficiencia Good syndrome Good-Syndrom Sindrome di Good Syndrome de Good Síndrome de Good Síndrome de Good hrdo:pat_id_17822 neant D80.8 169110 234539005 C0398692 disease Defekt der schweren Immunglobulinkette Deficit della catena pesante dell'immunoglobulina Deficiência de cadeias pesadas da imunoglobulina Déficit de cadenas pesadas de inmunoglobulinas Déficit en chaîne lourde d'immunoglobuline Immunoglobulin heavy chain deficiency hrdo:pat_id_17825 10044388 neant D80.7 169139 88714009 C0272238 disease Hipogamaglobulinemia transitória da infância Hipogammaglobulinemia transitoria de la infancia Hypoglammaglobulinémie transitoire de l'enfance Ipogammaglobulinemia transitoria dell'infanzia Transient hypogammaglobulinemia of infancy Transiente Hypogammaglobulinämie der Kindheit hrdo:pat_id_17826 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 245480 neant D71 169142 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Deficiencia de gránulos específicos de neutrófilos Deficit dei granuli specifici dei neutrofili Déficit de gránulos específicos de neutrófilos Déficit en granules spécifiques des neutrophiles Neutrophil-specific granule deficiency Neutrophilen-spezifischer Granulamangel Infecciones recurrentes debidas a deficiencia de gránulos específicos Infection récurrente due à déficit en granules spécifiques Infezione ricorrente da deficit di granuli specifici Infeção recorrente por deficiência granular específica Recurrent infection due to specific granule deficiency Rekurrente Infektionen durch spezifischen Granulamangel hrdo:pat_id_17827 120790 216950 217000 613652 613783 614379 614380 neant D84.1 169147 disease Immunodeficiency due to a C1, C4, or C2 component complement deficiency Immunodeficienza da deficit dei componenti del complemento C1, C4 o C2 Immunodéficence due à un déficit de C1, C2 ou C4 Inmunodeficiencia debida a déficit de los componentes C1, C4 o C2 del complemento Deficiência de componentes precoces do complemento (C1, C4 or C2) Immunodeficiency due to an early component of complement deficiency Immunodeficienza da deficit dei componenti precoci del complemento Immunodéficence due à un déficit des composés précoces de la voie classique du complément Inmunodeficiencia debida a déficit de componentes tempranos del complemento Komplementdefekt bei Mangel der frühen Komponenten (C1, C4 oder C2) hrdo:pat_id_17828 609536 610102 612446 613789 613790 613825 neant D84.1 169150 disease Deficiency of complement of terminal pathway Deficit della via terminale del complemento Déficit en la vía terminal del complemento Immunodeficiency due to a C5 to C9 component complement deficiency Immunodeficienza da deficit dei componenti del complemento da C5 a C9 Immunodéficience due à un déficit d'un des composés C5 à C9 du complément Inmunodeficiencia debida a déficit de los componentes C5 a C9 del complemento Störung des terminalen Komplementkomplex Deficiência dos componentes tardios do complemento (C5 to C9) Immunodeficiency due to a late component of complements deficiency Immunodeficienza da deficit dei componenti tardivi del complemento Immunodéficience due à un déficit des composés terminaux de la voie classique du complément Inmunodeficiencia debida a déficit de componentes tardíos del complemento Komplementdefekt bei terminalen C-Defekt (C5 bis C9) hrdo:pat_id_17829 608971 neant D81.2 169154 etiological subtype Immundefekt, kombinierter schwerer, T- B+, durch IL-7Ralpha-Mangel Immunodeficienza combinata grave T- B+ da deficit di IL-7Ralfa Immunodéficience combinée sévère T-B+ due à un déficit en IL-7Ralpha Imunodeficiência grave combinada T- B+ por deficiência de IL-7R-alfa Inmunodeficiencia combinada severa, T- B+ debida a deficiencia de IL-7Ralpha Severe combined immunodeficiency T- B+ due to IL-7Ralpha deficiency hrdo:pat_id_1783 227255 neant Q87.8 1780 malformation syndrome Sindrome di Thakker-Donnai Syndrome de Thakker-Donnai Síndrome de Thakker-Donnai Síndrome de Thakker-Donnai Thakker-Donnai syndrome Thakker-Donnai, síndrome de Thakker-Donnai-Syndrom Dismorfia - malformaciones múltiples Dismorfias - anomalias múltiplas estruturais Dismorfismi - malformazioni multiple Dysmorphie - malformations multiples Dysmorphien - multpile strukturelle Anomalien Dysmorphism - multiple structural anomalies hrdo:pat_id_17830 608971 neant D81.2 169157 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo etiological subtype Immundefekt, kombinierter schwerer, T- B+, durch CD45-Mangel Immunodeficienza combinata grave T- B+ da deficit di CD45 Immunodéficience combinée sévère T-B+ due à un déficit en CD45 Imunodeficiência grave combinada T- B+ por deficiência de CD45 Inmunodeficiencia combinada severa, T- B+ debida a deficiencia de CD45 Severe combined immunodeficiency T- B+ due to CD45 deficiency hrdo:pat_id_17831 608971 610163 neant D81.2 169160 etiological subtype Immundefekt, kombinierter schwerer, T- B+, durch CD3delta/CD3epsilon/CD3dzeta-Defekt Immunodeficienza combinata grave T- B+ da deficit di CD3delta/CD3epsilon/CD3dzeta Immunodéficience combinée sévère T-B+ due à un déficit en CD3delta/epsilon/zeta Imunodeficiência grave combinada T- B+ por deficiência de CD3 delta / CD3 epsilon/ CD3 zeta Inmunodeficiencia combinada grave T- B+ debida a CD3delta/CD3epsilon/CD3dzeta Severe combined immunodeficiency T- B+ due to CD3delta/CD3epsilon/CD3zeta hrdo:pat_id_17832 neant Q75.0 169163 group of phenomes Escafocefalia sindrómica familiar Familial scaphocephaly syndrome Sacophocépalie syndromique familiale Sindrome da scafocefalia familiare Skaphokephalie-Syndrom, familiäres Síndrome de escafocefalia familiar hrdo:pat_id_17833 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 255200 neant G71.2 169186 240081004 C0410204 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown AR-CNM AR-CNM AR-CNM AR-CNM AR-CNM MCN-AR Autosomal recessive centronuclear myopathy Miopatia centronuclear, autossómica recessiva Miopatia centronucleare autosomica recessiva Miopatía centronuclear autosómica recesiva Myopathie centronucléaire autosomique récessive Myopathie, zentronukleäre, autosomal-rezessive hrdo:pat_id_17834 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 160150 614408 neant G71.2 169189 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown AD-CNM AD-CNM AD-CNM AD-CNM AD-CNM MCN-AD Autosomal dominant centronuclear myopathy Miopatia centronuclear, autossómica dominante Miopatia centronucleare autosomica dominante Miopatía centronuclear autosómica dominante Myopathie centronucléaire autosomique dominante Myopathie, zentronukleäre, autosomal-dominante hrdo:pat_id_17836 169346 group of phenomes Anomalie de réparation de l'ADN autre qu'un déficit immunitaire combiné en cellules B et T DNA repair defect other than combined T-cell and B-cell immunodeficiencies DNA-Reparaturdefekt, ungleich kombinierter B- und T-Zell-Immundefekt Defecto en la reparación del ADN, diferente a las inmunodeficiencias combinadas de linfocitos T y B Defeitos de reparação do DNA, que não imunodeficiências combinadas de células T e B Difetto di riparazione del DNA diverso dalle immunodeficienze combinate dei linfociti T e B hrdo:pat_id_17837 169349 254067002 C0432218 group of phenomes Displasia immuno-ossea Displasia imuno-óssea Displasia inmuno-ósea Dysplasie immuno-osseuse Dysplasie, immuno-ossäre Immuno-osseous dysplasia hrdo:pat_id_17839 169355 group of phenomes Immunodeficiency syndrome with autoimmunity Sindrome da immunodeficienza con autoimmunità Syndrom mit Autoimmunität Syndrome d'immunodéficience avec autoimmunité Síndrome de autoimunidade Síndrome de inmunodeficiencia con autoinmunidad hrdo:pat_id_1784 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 224300 Q78.8 1782 254123002 C0432262 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Disosteosclerose Disosteosclerosis Disostosclerosi Dysosteosclerosis Dysosteosklerose Dysostéosclérose hrdo:pat_id_17841 169361 group of phenomes Maladie avec dérèglement immunitaire avec immunodéficience Doença de desregulação imune Enfermedad de desregulación inmune con inmunodeficiencia Immune dysregulation disease with immunodeficiency Maladie avec dérèglement et déficit immunitaire Malattia da disregolazione immunitaria con immunodeficienza Störung der Immunantwort mit Immundefekt hrdo:pat_id_17856 neant D80.6 169443 disease Anticorpos específicos com concentrações normais de imunoglobina e contagem normal de células B, deficiência de Antikörpermangel mit normalen Immunglobulinen und B-Zellen Deficiencia específica de anticuerpos con concentraciones normales de inmunoglobulina y valores normales de células B Deficit di anticorpi specifici associato a concentrazioni normali di immunoglobuline e normale numero di linfociti B Déficit en anticorps spécifiques avec une quantité normale d'immunoglobuline et de cellules B Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells hrdo:pat_id_17857 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 243700 611521 neant D82.4 169446 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 AR-HIES Autosomal recessive HIES HIES autosomica recessiva HIES autosomique recessif HIES, autosomal-rezessives Hyperimmunoglobulin E syndrome type 2 Hyperimmunoglobulinämie E-Syndrom Typ 2 Nonskeletal hyper IgE syndrome Sindrome da iperimmunoglobuline E, tipo 2 Sindrome da iperimmunoglobulinemia E, tipo 2 Syndrome d'hyper IgE non-squelettique Syndrome d'hyperimmunoglobuline E type 2 Autosomal recessive hyper IgE syndrome Hyper IgE-Syndrom, autosomal-rezessives Sindrome iper-IgE, autosomica recessiva Syndrome hyper IgE autosomique récessif Síndrome de hiper-IgE autosómico recesivo Síndrome hiper-IgE, autossómico recessivo hrdo:pat_id_1786 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 201180 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Acro+fronto+facio+nasal+OR+acrofrontofacionasal Q75.1 1784 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Richieri-Costa-Colletto syndrome Richieri-Costa-Colletto, síndrome de Richieri-Costa-Colletto-Syndrom Sindrome di Richieri Costa-Colletto Syndrome de Richieri Costa-Colletto Síndrome de Richieri-Costa-Colletto Síndrome de Richieri-Costa-Colletto Acro-fronto-facio-nasal dysostosis Disostose acro-fronto-facio-nasal Disostosi acro-fronto-facio-nasale Disostosis acro-fronto-facio-nasal Dysostose acro-fronto-facio-nasale Dysostose, akro-fronto-fazio-nasale hrdo:pat_id_17863 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 612300 neant D84.1 169464 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CD59-Mangel Deficiencia de CD59 Deficit di CD59 Deficiência de CD59 Déficit primaire en CD59 Primary CD59 deficiency hrdo:pat_id_17864 613912 neant D84.1 169467 disease Infecciones recurrentes de Neisseria debidas a deficiencia de factor D Infections récurrentes à Neisseria due à un déficit en facteur D Infezioni ricorrenti da Neisseria dovute a deficit del fattore D Infeções recorrentes por Neisseria por deficiência de fator D Neisseria-Infektionen, rekurrente, durch Faktor D-Mangel Recurrent Neisseria infections due to factor D deficiency hrdo:pat_id_17866 neant E22.8 169615 237817008 C0342544 etiological subtype Idiopathic central precocious puberty Puberdade precoce central idiopática Pubertad precoz central idiopática Pubertas praecox, zentrale, idiopathische Pubertà precoce centrale idiopatica Puberté précoce centrale idiopathique hrdo:pat_id_17867 169618 etiological subtype Puberdade precoce central secundária Pubertad precoz central secundaria Pubertas praecox, zentrale, sekundäre Pubertà precoce centrale secondaria Puberté précoce central secondaire Secondary central precocious puberty hrdo:pat_id_17869 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 306900 neant D67 169793 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive clinical subtype 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Deficit grave del fattore IX Déficit de factor IX grave Déficit sévère en facteur IX Faktor IX-Mangel mit Restaktivität < 1 % Severe factor IX deficiency Emofilia B grave Hemofilia B grave Hemofilia B grave Hämophilie B, schwere Hémophilie B sévère Severe hemophilia B hrdo:pat_id_17870 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 306900 neant D67 169796 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive clinical subtype 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Deficit moderatamente grave del fattore IX Déficit de factor IX moderadamente grave Déficit modéré en facteur IX Faktor IX-Mangel mit Restaktivität 1 - 5 % Moderately severe factor IX deficiency Emofilia B moderatamente grave Hemofilia B moderadamente grave Hemofilia B moderadamente grave Hämophilie B, mittelschwere Hémophilie B modérée Moderately severe hemophilia B hrdo:pat_id_17871 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 306900 neant D67 169799 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive clinical subtype 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Deficit lieve del fattore IX Déficit de factor IX leve Déficit mineur en facteur IX Faktor IX-Mangel mit Restaktivität 5 - 15 % Mild factor IX deficiency Emofilia B lieve Hemofilia B leve Hemofilia B ligeira Hämophilie B, leichte Hémophilie B mineure Mild hemophilia B hrdo:pat_id_17872 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 306700 neant D66 169802 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive clinical subtype 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Deficit grave del fattore VIII Déficit de factor VIII grave Déficit sévère en facteur VIII Faktor VIII-Mangel mit Restaktivität < 1 % Severe factor VIII deficiency Emofilia A grave Hemofilia A grave Hemofilia A grave Hämophilie A, schwere Hémophilie A sévère Severe hemophilia A hrdo:pat_id_17873 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 306700 neant D66 169805 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive clinical subtype 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Deficit moderatamente grave del fattore VIII Déficit de factor VIII moderamente grave Déficit modéréen facteur VIII Faktor VIII-Mangel mit Restaktivität 1 - 5 % Moderately severe factor VIII deficiency Emofilia A moderatamente grave Hemofilia A moderadamente grave Hemofilia A moderamente grave Hämophilie A, mittelschwere Hémophilie A modérée Moderately severe hemophilia A hrdo:pat_id_17874 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 306700 neant D66 169808 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive clinical subtype 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Deficit lieve del fattore VIII Déficit de factor VIII leve Déficit mineur en facteur VIII Faktor VIII-Mangel mit Restaktivität 5 - 15 % Mild factor VIII deficiency Emofilia A lieve Hemofilia A leve Hemofilia A ligeira Hämophilie A, milde Hémophilie A mineure Mild hemophilia A hrdo:pat_id_17875 neant D68.2 169826 group of phenomes Congenital vitamin K-dependent coagulation factors deficiency Deficiência congénita de fatores de coagulação dependentes da vitamina K Déficit congénital en facteurs Vitamino-K dépendants Factores de coagulación vitamina K-dependientes congénitos Fattori di coagulazione congeniti dipendenti dalla vitamina K Vitamin K-abhängige Gerinnungsfaktoren, kongenitaler Mangel hrdo:pat_id_1788 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 101805 C538182 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28dysostoses%5Bmh%5D+OR+dysostose*%5Btw%5D+OR+dysostosis%5Btw%5D%29+AND+catania%5Btw%5D Q75.4 1786 C2931762 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Opitz-Caltabiano syndrome Opitz-Mollica-Sorge, síndrome de Opitz-Mollica-Sorge-Syndrom Sindrome di Opitz-Mollica-Sorge Syndrome d'Opitz-Caltabiano Síndrome de Opitz-Mollica-Sorge Síndrome de Opitz-Mollica-Sorge Acrofacial dysostosis, Catania type Disostose acrofacial, forma de Catania Disostosi acrofacciale, tipo Catania Disostosis acrofacial forma catania Dysostose acrofaciale type Catane Dysostose, akrofaziale, Catania-Typ hrdo:pat_id_1789 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 201170 C538183 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28dysostoses%5Bmh%5D+OR+dysostos*%5Btw%5D%29+AND+rodriguez%5Btw%5D Q75.4 1788 C1860119 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dysostose acrofaciale Rodriguez type Acrofacial dysostosis, Rodriguez type Disostose acro-facial tipo Rodriguez Disostosi acrofacciale, tipo Rodriguez Disostosis acrofacial tipo Rodríguez Dysostose acrofaciale type Rodriguez Dysostose, akrofaziale, Typ Rodriguez hrdo:pat_id_1790 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 241310 C537154 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Hypomandibular+faciocranial+dysostosis Q75.4 1790 C1855848 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Disostose facio-cranio-hipomandibular Disostosi faciocraniale ipomandibolare Disostosis faciocranenana hipomandibular Dysostose facio-crânienne hypomandibulaire Dysostose, faziokraniale hypomandibuläre Hypomandibular faciocranial dysostosis hrdo:pat_id_17901 neant Q42.0 Q42.1 171201 253771003 C0345210 morphological anomaly Anorektale Fehlbildung, hohe Form High anorectal malformation High anorectal malformation Malformation anorectale haute Malformazione anorettale alta Malformação anoretal alta hrdo:pat_id_17902 171208 morphological anomaly Anorektale Fehlbildung, intermediäre Form Intermediate anorectal malformation Intermediate anorectal malformation Malformation anorectale intermédiaire Malformazione anorettale intermedia Malformação anoretal intermédia hrdo:pat_id_17903 neant Q42.2 Q42.3 171215 253772005 C0345218 morphological anomaly Anorektale Fehlbildung, tiefe Form Low anorectal malformation Low anorectal malformation Malformation anorectale basse Malformazione anorettale bassa Malformação anoretal baixa hrdo:pat_id_17904 neant Q43.4 171220 morphological anomaly Duplication rectale Duplicazione rettale Duplicação retal Rectal duplication Rectal duplication Rektumduplikation hrdo:pat_id_17906 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant G71.2 171430 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Miopatia nemalinica congenita grave Miopatia nemalínica congénita grave Miopatía nemalínica congénita grave Myopathie congénitale sévère à némaline Nemalin-Myopathie, kongenitale schwere Severe congenital nemaline myopathy hrdo:pat_id_17907 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant G71.2 171433 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Intermediate nemaline myopathy Miopatia nemalinica di grado intermedio Miopatia nemalínica intermédia Miopatía nemalínica intermedia Myopathie némaline intermédiaire Nemalin-Myopathie, intermediäre hrdo:pat_id_17908 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant G71.2 171436 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo clinical subtype 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Miopatia nemalinica tipica Miopatia nemalínica típica Miopatía nemalínica típica Myopathie némaline typique Nemalin-Myopathie, typische Typical nemaline myopathy hrdo:pat_id_17909 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant G71.2 171439 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Mild nemaline myopathy Miopatia nemalinica a esordio infantile Miopatía nemalínica de aparición en la infancia Myopathie némaline modérée Nemalin-Myopathie, im Kindesalter beginnende Childhood-onset nemaline myopathy Miopatia nemalinica lieve Miopatia nemalínica ligeira Miopatía nemalínica leve Myopathie némaline de l'enfant Nemalin-Myopathie, milde hrdo:pat_id_1791 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=humero+spinal+dysostos*%5Btw%5D Q77.8 1792 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Kozlowski-Celermajer, síndrome de Síndrome de Kozlowski-Celermajer Disostose humero-vertebral - cardiopatia congénita Disostosi omerospinale Disostosis humero espinal Dysostose huméro-spinale Dysostose, humerospinale Humerospinal dysostosis hrdo:pat_id_17910 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant G71.2 171442 C0546123 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Adult-onset nemaline myopathy Miopatia nemalinica a insorgenza in età adulta Miopatia nemalínica de início na idade adulta Miopatía nemalínica de aparición en adultos Myopathie némaline de l'adulte Nemalin-Myopathie, adult (-onset) hrdo:pat_id_17911 609524 neant G71.8 171445 disease Filaminopathie Filaminopathie musculaire Filaminopatia Filaminopatía Malattia della filamina Muscle filaminopathy hrdo:pat_id_17912 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 300750 neant G11.4 171607 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SPG34 SPG34 SPG34 SPG34 Paraparésia espástica ligada ao X, tipo 34 Paraplegia spastica legata all'X, tipo 34 Paraplejia espástica ligada al X tipo 34 Paraplégie spastique liée à l'X type 34 Spastische Paraplegie, X-chromosomale, Typ 34 X-linked spastic paraplegia type 34 hrdo:pat_id_17913 Variabel Variabile Variable Variable Variable Variable Variável 611945 neant G11.4 171612 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SPG37 SPG37 SPG37 SPG37 Autosomal dominant spastic paraplegia type 37 Paraparésia espástica autossómica dominante, tipo 37 Paraplegia spastica, autosomica dominante, tipo 37 Paraplejia espástica autosómica dominante tipo 37 Paraplégie spastique autosomique dominante type 37 Spastische Paraplegie, autosomal-dominante, Typ 37 hrdo:pat_id_17914 612335 neant G11.4 171617 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SPG38 SPG38 SPG38 SPG38 Autosomal dominant spastic paraplegia type 38 Paraparésia espástica autossómica dominante, tipo 38 Paraplegia spastica, autosomica dominante, tipo 38 Paraplejia espástica autosómica dominante tipo 38 Paraplégie spastique autosomique dominante type 38 Spastische Paraplegie, autosomal-dominante, Typ 38 hrdo:pat_id_17915 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 611252 neant G11.4 171622 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SPG32 SPG32 SPG32 SPG32 Autosomal recessive spastic paraplegia type 32 Paraparésia espástica autossómica recessiva, tipo 32 Paraplegia spastica, autosomica recessiva, tipo 32 Paraplejia espástica autosómica dominante tipo 32 Paraplégie spastique autosomique récessive type 32 Spastische Paraplegie, autosomal-dominante, Typ 32 hrdo:pat_id_17916 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 612319 neant G11.4 171629 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SPG35 SPG35 SPG35 SPG35 Autosomal recessive spastic paraplegia type 35 Paraparésia espástica autossómica recessiva, tipo 35 Paraplegia spastica, autosomica recessiva, tipo 35 Paraplejia espástica autosómica dominante tipo 35 Paraplégie spastique autosomique récessive type 35 Spastische Paraplegie, autosomal-dominante, Typ 35 hrdo:pat_id_17923 171673 particular clinical situation in a disease or syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Corneal lesions with associated corneal stem cell deficiency due to ocular burns Corneal lesions, with associated corneal (limbal) stem cell deficiency, due to ocular burns Hornhaut-Läsionen mit assoziierter Limbusstammzellinsuffizienz durch Augenverbrennung Lesioni corneali da deficit delle cellule staminali (limbali) corneali, secondarie a bruciature oculari Lesões da córnea, com deficiência associada a células estaminiais da córnea (limbo), por queimaduras oculares Lésions cornéennes avec déficit en cellules souches cornéennes due à une brulûre oculaire hrdo:pat_id_17924 D007969 10052594 171676 230769007 C0023529 disease Leucomalacia periventricolare Leucomalacia periventricular Leucomalácia periventricular Leukomalacie périventriculaire Periventricular leukomalacia Periventrikuläre Leukomalazie hrdo:pat_id_17925 611603 neant Q04.3 171680 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Lisencefalia por mutação no gene TUBA1A Lisencefalia debido a mutaciones en TUBA1A Lissencefalia da mutazioni di TUBA1A Lissencephaly due to TUBA1A mutation Lissencéphalie due à une mutation de TUBA1 Lissenzephalie durch TUBA1A-Genmutation hrdo:pat_id_17926 171684 disease Idiopathic bilateral vestibulopathy Vestibulopathie bilatérale idiopathique Vestibulopathie, bilaterale idiopathische Vestibulopatia bilateral idiopática Vestibulopatia idiopatica bilaterale Vestibulopatía bilateral idopática hrdo:pat_id_17927 245340 neant 171690 disease Anomalie du transporteur de lactate de l'érythrocyte Defecto en el trasportador del lactacto eritrocitario Difetto del trasportatore eritrocitario del lattato Erythrocyte lactate transporter defect Laktat-Transporter-Defekt der Erythrozyten Metabolic myopathy due to lactate transporter defect Miopatia metabolica da difetto del trasportatore del lattato Miopatia metabólica por deficiência do transportador de lactato Miopatía metabólica debida al defecto en el trasportador de lactato Myopathie métabolique avec défaut de transport du lactate Myopathie, metabolische, durch Laktat-Transporter-Defekt hrdo:pat_id_17928 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 168100 260300 neant G20 171695 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Pallido-pyramidales Syndrom Pallidopyramidal syndrome Sindrome pallidopiramidale Syndrome pallido-pyramidal Síndrome palidopiramidal Parkinson-pyramidales Syndrom Parkinsonian-pyramidal syndrome Sindrome parkinsoniana piramidale Syndrome parkinsonien-pyramidal Síndrome parkinsoniano piramidal Síndrome parkinsoniano-piramidal hrdo:pat_id_17929 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 604809 C536174 10062952 neant 171700 430476004 C0878555 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Diffuse panbronchiolitis Panbronchiolite diffusa Panbronchiolite diffuse Panbronchiolitis, diffuse Panbronquiliolitis difusa Panbronquiolite difusa hrdo:pat_id_1793 C537736 neant Q75.5 1794 C1838348 malformation syndrome Richieri-Costa-Gorlin syndrome Richieri-Costa-Gorlin, síndrome de Richieri-Costa-Gorlin-Syndrom Sindrome di Richieri Costa-Gorlin Syndrome de Richieri Costa-Gorlin Síndrome de Richieri-Costa-Gorlin Síndrome de Richieri-Costa-Gorlin Disostose óculo-maxilo-facial Disostosi oculo-maxillo-facciale Disostosis oculo-maxilo-facial Dysostose oculo-maxillo-faciale Dysostose, okulo-maxillo-faziale Oculomaxillofacial dysostosis hrdo:pat_id_17930 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q04.3 171703 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Microcefalia - polimicrogiria - agenesia del corpo calloso Microcefalia - polimicrogiria - agenesia do corpo caloso Microcefalia - polimicrogiria- agenesia del cuerpo calloso Microcephaly - polymicrogyria - corpus callosum agenesis Microcéphalie - polymicrogyrie - agénésie du corps calleux Microzephalie - Polymikrogyrie - Corpus callosum-Agenesie hrdo:pat_id_17931 609698 neant E03.8 171706 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Baixa estatura-atraso da idade óssea por deficiência no metabolismo da hormona da tiroide Baja estatura- retraso en la edad ósea debido al déficit en el metabolismo de hormonas tiroideas Bassa statura - età ossea ritardata da deficit degli ormoni tiroidei Kleinwuchs - retardiertes Knochenalter, durch stoffwechselbedingten Schilddrüsenhormonmangel Petite taille-retard d'âge osseux due à un déficit du métabolisme de l'hormone thyroïdienne Short stature-delayed bone age due to thyroid hormone metabolism deficiency hrdo:pat_id_17932 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 102530 613958 neant 171709 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Espermatozoides de cabeza redondeada Round-headed spermatozoa Rundkopf-Spermien Spermatozoi a testa tonda Spermatozoïdes à tête ronde Globozoospermia Globozoospermia Globozoospermia Globozoospermia Globozoospermie Globozoospermie hrdo:pat_id_17933 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 609056 neant E77.8 171714 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Deficiencia de GM3 sintetasa Deficit di GM3 sintasi Déficit de GM3 sintetasa Déficit en GM3 synthase Epilepsie-Syndrom des Kleinkindalters - Entwicklungsstillstand - Blindheit GM3 Synthase-Mangel GM3 synthase deficiency ST3GAL5-CDG syndrome ST3GAL5-CDG syndrome Sindrome epilettica sintomatica a esordio infantile - arresto dello sviluppo - cecità Syndrome ST3GAL5-CDG Syndrome d'épilepsie infantile symptomatique - arrêt de développement - cécité Síndrome ST3GAL5-CDG Síndrome epiléptico sintomático de aparición infantil - estancamiento del desarrollo - ceguera infantile-onset symptomatic epilepsy syndrome - developmental stagnation - blindness Amish infantile epilepsy syndrome Epilepsie-Syndrom, infantiles, Amish-Typ Sindrome dell'epilessia infantile degli Amish Syndrome d'épilepsie infantile type Amish Síndrome de epilepsia infantil tipo Amish Síndrome epiléptico infantil de los Amish hrdo:pat_id_17934 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614100 neant 171719 malformation syndrome Cutis laxa-Marfanoid syndrome Cutix laxa - sindrome Marfanoide Cutix laxa-mafanoides Syndrom Syndrome cutis laxa-marfanoïde Síndrome marfanoide-cutis laxa Síndrome marfanóide - cutis laxa hrdo:pat_id_17935 193900 neant Q38.6 171723 389203001 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Hereditary mucosal leukokeratosis Leucocheratosi ereditaria delle mucose Leucoqueratosis mucosa hereditaria Leukokeratose, mukosale, hereditäre Leukokératose mucosale héréditaire Nevo bianco spongiforme di Cannon Nevus blanco esponjoso de Cannon Névus spongieux blanc de Cannon Weißer Schleimhaut-Naevus Typ Cannon White sponge nevus White sponge nevus of Cannon Nevo bianco spongiforme Nevo branco esponjoso Nevus blanco esponjoso Névus blanc spongieux Schleimhaut-Naevus, weißer White sponge nevus hrdo:pat_id_17936 neant Q93.5 171829 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Del(6)(q16) Del(6)(q16) Del(6)(q16) Del(6)(q16) Del(6)(q16) Monosomia 6q16 Monosomie 6q16 Monosomie 6q16 Monosomy 6q16 Monosomía 6q16 Prader-Willi-like syndrome due to deletion 6q16 Prader-Willi-ähnliches Syndrom durch Deletion 6q16 Sindrome Prader-Willi-simile da delezione 6q16 Syndrome de Prader-Willi-like due à une délétion 6q16 Síndrome tipo Prader-Willi por deleción 6q16 6q16 deletion syndrome Mikrodeletionssyndrom 6q16 Sindrome da delezione 6q16 Syndrome de délétion 6q16 Síndrome de Bonaglia-Zuffardi Síndrome de deleción 6q16 hrdo:pat_id_17937 614253 neant K00.5 171836 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Amelogenesis imperfecta - gingivale Hyperplasie Amelogenesis imperfecta and gingival hyperplasia syndrome Fibromatose gengival - anomalias dentárias Sindrome da amelogenesi imperfetta e iperplasia gengivale Syndrome d'amélogénèse imparfaite et hyperplasie gingivale Síndrome de amelogénesis imperfecta e hiperplasia gingival hrdo:pat_id_17938 neant Q87.8 171839 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Berant syndrome Berant-Syndrom Capra-DeMarco syndrome Capra-DeMarco-Syndrom Escafocefalia familiar - sinostosis radiocubital Familial scaphocephaly - radioulnar synostosis Scafocefalia familiare - sinostosi radioulnare Scaphocéphallie familiale - sysnostose radio-ulnaire Sindrome di Berant Sindrome di Capra-DeMarco Skaphokephalie - radioulnare Synostose, familiär Syndrome de Berant Syndrome de Capra-DeMarco Síndrome de Berant Síndrome de Capra-DeMarco Craneosinostosis - hidrocefalia - malformación de Chiari I - sinostosis radioulnar Craniosinostosi - idrocefalo - malformazione di Chiari I - sinostosi radioulnare Craniosynostose - hydrocéphalie - malformation de Chiari 1 - synostose radiocubitale Craniosynostosis - hydrocephalus - Chiari I malformation - radioulnar synostosis Kraniosynostose - Hydrozephalus - Chiari-Fehlbildung I - radioulnare Synostose Síndrome de Capra-DeMarco hrdo:pat_id_17939 612445 neant 171844 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Blindheit - Skoliose - Arachnodaktylie Blindness - scoliosis - arachnodactyly Cecità - scoliosi - aracnodattilia Cegueira - escoliose - aracnodactilia Ceguera - escoliosis- aracnodactilia Cécité - scoliose - arachnodactylie hrdo:pat_id_1794 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 122900 Q78.8 1798 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Autosomal dominant osteosclerosis, Stanescu type CFC, síndrome Craniofacial dysostosis - diaphyseal hyperplasia Disostosi craniofacciale - iperplasia diafisaria Disostosis craneofacial - hiperplasia diafisaria Dysostose craniofaciale - hyperplasie diaphysaire Kraniofaziale Dysostose - diaphysäre Hyperplasie Osteoesclerosis Stanescu Osteoesclerosis autómica dominante tipo Stanescu Osteosclerose, tipo Stanescu Osteosclerosi autosomica dominante, tipo Stanescu Osteosclerosi di Stanescu Osteosklerose, autosomal-dominante, Typ Stanescu Ostéosclérose type Stanescu Ostéosclérose type Stanescu autosomique dominant Stanescu osteosclerosis Stanescu-Osteosklerose Síndrome CFC Disostose, tipo Stanescu Disostosi, tipo Stanescu Disostosis tipo Stanescu Dysostose Typ Stanescu Dysostose type Stanescu Dysostosis, Stanescu type hrdo:pat_id_17940 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 612674 neant 171848 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 PHARC PHARC PHARC syndrome Peripheral neuropathy, Fiskerstrand type Polineuropatia - perdita dell'udito - atassia - retinite pigmentosa - cataratta Polineuropatía - pérdida de audición - ataxia - retinosis pigmentaria - cataratas Polyneuropathie - Hörverlust - Ataxie - Retinitis pigmentosa - Katarakt Syndrome PHARC Neuropathie, periphere, Typ Fiskerstrand Neuropatia periferica, tipo Fiskerstrand Neuropatia periférica, tipo Fiskerstrand Neuropatía periférica, tipo Fiskerstrand Polyneuropathie - surdité - ataxie - rétinite pigmentaire - cataracte Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract hrdo:pat_id_17941 609313 neant 171851 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Déficit intelectual - enteropatía - sordera - neuropatía periférica - ictiosis - queratodermia Déficit intellectuel - entéropathie - surdité - neuropathie périphérique - ichtyose - kératodermie EKV3 Erythrokeratodermia variabilis 3 Erythrokeratodermia variabilis, Kamouraska type Erythrokératodermie variable 3 Erythrokératodermie variable, type Kamouraska Intellectual deficit - enteropathy - deafness - peripheral neuropathy - ichthyosis - keratodermia Intelligenzminderung - Enteropathie - Schwerhörigkeit - periphere Neuropathie - Ichthyose - Keratodermie Ritardo mentale - enteropatia - sordità - neuropatia periferica - ittiosi - cheratodermia MEDNIK syndrome MEDNIK-Syndrom Sindrome di MEDNIK Syndrome MEDNIK Síndrome MEDNIK Síndrome MEDNIK hrdo:pat_id_17944 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 171860 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficit intellettivo- cataratta - cifosi Défice intelectual - cataratas - cifose Déficit intelectual - cataratas - cifosis Déficit intellectuel - cataracte - cyphose Intellectual deficit - cataracts - kyphosis Intelligenzminderung - Katarakte - Kyphose hrdo:pat_id_17945 Variabel Variabile Variable Variable Variable Variable Variável 612539 neant G11.4 171863 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease SPG42 SPG42 SPG42 SPG42 Autosomal dominant spastic paraplegia type 42 Paraparesia espástica autossómica dominante, tipo 42 Paraplegia spastica autosomica dominante, tipo 42 Paraplejía espástica autosómica dominante tipo 42 Paraplégie spastique autosomique dominante type 42 Spastische Paraplegie, autosomal-dominante, Typ 42 hrdo:pat_id_17946 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 612813 neant Q77.7 171866 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SEMD type aggrecane SEMD, Aggrecan-Typ SEMD, aggrecan type SEMD, tipo aggrecano Displasia espondiloepimetafisária tipo aggrecan Displasia espondilometafisaria tipo agrecán Displasia spondiloepimetafisaria, tipo aggrecano Dysplasie spondyloépimétaphysaire type aggrecane Dysplasie, spondyloepimetaphysäre, Typ Aggrecan Spondyloepimetaphyseal dysplasia, aggrecan type hrdo:pat_id_17947 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 177735 neant N25.8 171871 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Autosomal dominant pseudohypoaldosteronism type 1 Pseudohypoaldosteronismus, autosomal-dominanter, Typ 1 Pseudohypoaldostéronisme type 1 autosomique dominant Pseudoipoaldosteronismo autosomico dominante, tipo 1 Pseudo-hipoaldosteronismo renal, tipo 1 Pseudohipoaldosteronismo renal tipo 1 Pseudohypoaldosteronismus, renaler, Typ 1 Pseudohypoaldostéronisme type 1 rénal Pseudoipoaldosteronismo renale, tipo 1 Renal pseudohypoaldosteronism type 1 hrdo:pat_id_17948 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 264350 neant N25.8 171876 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Autosomal recessive pseudohypoaldosteronism type 1 Pseudohipoaldosteronismo autosómico recesivo tipo 1 Pseudohypoaldosteronismus, autosomal-rezessiver, Typ 1 Pseudohypoaldostéronisme type 1 autosomique récessif Pseudoipoaldosteronismo autosomico recessivo, tipo 1 Generalized pseudohypoaldosteronism type 1 Pseudo-hipoaldosteronismo tipo 1, generalizado Pseudohipoaldosteronismo generalizado tipo 1 Pseudohypoaldosteronismus, generalisierter, Typ 1 Pseudohypoaldostéronisme type 1 généralisé Pseudoipoaldosteronismo generalizzato, tipo 1 hrdo:pat_id_17949 Variabel Variabile Variable Variable Variable Variable Variável 609285 neant G71.2 171881 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cap disease Enfemedad con capuchón Myopathie à "cap" Cap myopathy Cap-Myopathie Miopatia a ''cappello'' Miopatia con capuchón Miopatia de Cap Myopathie à casquette hrdo:pat_id_1795 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 600117 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(specific+language+impairment%5Btw%5D+OR+Developmental+dysphasia%5Btw%5D)+(familial+OR+hereditary+OR+inherited)+OR+Language+Development+Disorders%2Fge F80.1 1799 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Billard-Toutain-Maheut syndrome Billard-Toutain-Maheut, síndrome de Billard-Toutain-Maheut-Syndrom Disfasia associata a FOXP2 Dysphasie associée à FOXP2 FOXP2-associated dysphasia Sindrome di Billard-Toutain-Maheut Sprachentwicklung, familiäre verzögerte Syndrome de Billard-Toutain-Maheut Síndrome de Billard-Toutain-Maheut Síndrome de Billard-Toutain-Maheut Disfasia congenita familiare Disfasia congénita familiar Disfasia do desenvolvimento, forma familiar Dysphasie congénitale familiale Dysphasie, familiäre kongenitale Familial developmental dysphasia hrdo:pat_id_17950 171886 disease Cylindrical spirals myopathy Miopatia a spirali cilindriche Miopatia de espirais cilíndricas Miopatía de espirales cilindricos Myopathie mit zylindrischen Spiralen Myopathie à spirales cynlindriques hrdo:pat_id_17951 171889 disease Miopatia com matrizes tubulares com ligação hexagonal Miopatia con strutture tubulari incrociate in modo esagonale Miopatía con formaciones tubulares hexagonalmente cruzadas Myopathie avec configuration hexagonale des tubules Myopathie mit hexagonal verknüpften tubulären Aggregaten Myopathy with hexagonally cross-linked tubular arrays hrdo:pat_id_17952 171895 group of phenomes Emopatia mieloide Hemopatia mielóide Hemopatía mieloide Hémopathie myéloïde Myeloid hemopathy Myeloische Hämopathie hrdo:pat_id_17953 171898 group of phenomes Emopatia linfoide Hemopatia linfóide Hemopatía linfoide Hémopathie lymphoïde Lymphoid hemopathy Lymphoide Hämopathie hrdo:pat_id_17954 D016410 10011677 171901 28054005 400122007 C0079773 group of phenomes Linfoma cutaneo primitivo a cellule T Linfoma cutáneo primario de células T Linfoma cutâneo de células T Lymphome T cutané primitif Primary cutaneous T-cell lymphoma Primär kutanes T-Zell-Lymphom hrdo:pat_id_17955 neant C85.1 171915 group of phenomes B-Zell-NHL B-cell NHL HNL de células B LMNH-B Lymphome non hodgkinien à cellules B NHL a cellule B B-Zell-Non-Hodgkin-Lymphom B-cell non-Hodgkin lymphoma Linfoma no-Hodgkin de células B Linfoma non-Hodgkin a cellule B Linfoma não-Hodgkin de células B Lymphome B non hodgkinien hrdo:pat_id_17956 neant C84 171918 group of phenomes LMNH-T Lymphome non hodgkinien à cellules T NHL a cellule T NHL de células T T-Zell-NHL T-cell NHL Linfoma no-Hodgkin de células T Linfoma non-Hodgkin a cellule T Linfoma não-Hodgkin de células T Lymphome T non hodgkinien T-Zell-Non-Hodgkin-Lymphom T-cell non-Hodgkin lymphoma hrdo:pat_id_17957 neant Q92.2 171929 malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Trisomia 10p Trisomia 10p Trisomie 10p Trisomie 10p Trisomy 10p Trissomia 10p hrdo:pat_id_17958 neant G71.2 172973 group of phenomes Congenital myopathy with protein accumulation Kongenitale Myopathie mit Protein-Akkumulation Miopatia congenita con accumulo di proteine Miopatia congénita com acumulação de proteínas Miopatia congénita con acumulación de proteinas Myopathie congénitale avec accumulation de protéine hrdo:pat_id_17959 neant G71.2 172976 group of phenomes Congenital myopathy with cores Kongenitale Myopathie mit Kern (Core-Krankheiten) Miopatia congenita con strutture centrali Miopatia congénita com núcleos Miopatía congénita con cores Myopathie congénitale avec cores hrdo:pat_id_1796 neant Q87.0 1800 malformation syndrome Bazopoulou-Kyrkanidou syndrome Bazopoulou-Kyrkanidou, síndrome de Sindrome di Bazopoulou-Kyrkanidou Syndrome de Bazopoulou-Kyrkanidou Síndrome de Bazopoulou-Kyrkanidou Síndrome de Bazopoulou-Kyrkanidou Craniofaciocervical osteoglyphic dysplasia Displasia craneo-cervico-facial osteoglífica Displasia cranio-cervico-facciale osteoglifica Displasia cranio-facio-cervical osteoglífica Dysplasie cranio-cervico-faciale ostéoglyphique Dysplasie, kranio-fazio-zerviko-osteoglyphische hrdo:pat_id_17960 neant G71.2 172979 group of phenomes Congenital myopathy with central nuclei Kongenitale Myopathie mit zentralständigen Kernen Miopatia congenita con nuclei centrali Miopatia congénita com núcleo central Miopatía congénita con núcleo central Myopathie congénitale avec noyaux centraux hrdo:pat_id_17961 neant G71.2 172982 group of phenomes Congenital myopathy with fibre size variation Kongenitale Myopathie mit Kalibervariationen der Muskelfasern Miopatia congenita con variazione delle dimensioni delle fibre Miopatia congénita com variação do tamanho das fibras Miopatía congénita con variación del tipo de fibra Myopathie congénitale avec taille de fibre variable hrdo:pat_id_17962 neant G71.2 172985 group of phenomes Congenital myopathy with vacuoles Kongenitale Myopathie mit Vakuolen Miopatia congenita con vacuoli Miopatia congénita com vacúolos Miopatía congénita con vacuolas Myopathie congénitale avec vacuoles hrdo:pat_id_1797 211350 C538128 1801 254096001 C0432239 malformation syndrome Displasia cifomelica Displasia cifomélica Dysplasie kyphomélique Dysplasie, kyphomele Encurvamento congénito dos ossos curtos Kyphomelic dysplasia hrdo:pat_id_1798 231095 1802 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Diaphyseal dysplasia - anemia Displasia diafisaria - anemia Dysplasie diaphysaire - anémie Dysplasie, diaphysäre - Anämie Ghosal syndrome Ghosal, síndrome de Ghosal-Syndrom Sindrome di Ghosal Syndrome de Ghosal Síndrome de Ghosal Síndrome de Ghosal Displasia diafisaria - anemia Displasia diafisária - anemia Displasia emato-diafisaria di Ghosal Dysplasie hémato-diaphysaire de Ghosal Dysplasie, hämatodiaphysäre, Typ Ghosal Ghosal hematodiaphyseal dysplasia hrdo:pat_id_17985 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant E23.0 174590 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Congenital hypogonadotropic hypogonadism Hipogonadismo hipogonadotrófico congénito Hipogonadismo hipogonadotrópico congénito Hypergonadotroper Hypogonadismus, kongenitaler Hypogonadisme hypogonadotrope congénital Ipogonadismo ipogonadotropo congenito hrdo:pat_id_17989 177101 group of phenomes Hipotiroidismo do adulto, raro Hipotiroidismo raro adulto Hypothyreose, adulte, seltene Hypothyroïdie rare de l'adulte Ipotiroidismo dell'adulto raro Rare adult hypothyroidism hrdo:pat_id_1799 273740 neant Q77.2 1803 disease Rivera-Perez-Salas syndrome Rivera-Perez-Salas, síndrome de Rivera-Perez-Salas-Syndrom Sindrome di Rivera-Perez-Salas Syndrome de Rivera-Perez-Salas Síndrome de Rivera-Perez-Salas Síndrome de Rivera-Perez-Salas Displasia do tórax e membros, tipo Rivera Displasia toracomelica Displasia toracomélica Dysplasie thoracomélique Dysplasie, thorakomelische Thoracomelic dysplasia hrdo:pat_id_17991 177107 group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hipotiroidismo sindrómico Hipotiroidismo sindrómico Hypothyreose, syndromale Hypothyroïdie syndromique Ipotiroidismo sindromico Syndromic hypothyroidism hrdo:pat_id_17992 neant Q87.1 177901 etiological subtype Syndrome de Prader-Willi dû à une monosomie 15q11q13 d'origine paternelle de type 1 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 Prader-Willi-Syndrom durch paternale Deletion von 15q11.13, Typ 1 Sindrome di Prader-Willi da delezione paterna di 15q11q13, tipo 1 Syndrome de Prader-Willi dû à une délétion 15q11q13 d'origine paternelle de type 1 Síndrome de Prader-Willi por deleción paterna de 15q11q13 tipo 1 Síndrome de Prader-Willi por deleção paterna de 15q11.13, tipo 1 hrdo:pat_id_17993 neant Q87.1 177904 etiological subtype Syndrome de Prader-Willi dû à une monosomie 15q11q13 d'origine paternelle de type 2 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 Prader-Willi-Syndrom durch paternale Deletion von 15q11.13, Typ 2 Sindrome di Prader-Willi da delezione paterna di 15q11q13, tipo 2 Syndrome de Prader-Willi dû à une délétion 15q11q13 d'origine paternelle de type 2 Síndrome de Prader-Willi por deleción paterna de 15q11q13 tipo 2 Síndrome de Prader-Willi por deleção paterna de 15q11.13, tipo 2 hrdo:pat_id_17994 neant Q87.1 177907 etiological subtype Prader-Willi syndrome due to translocation Prader-Willi-Syndrom durch Translokation Sindrome di Prader-Willi da traslocazione Syndrome de Prader-Willi dû à une translocation Síndrome de Prader-Willi debido a traslocación Síndrome de Prader-Willi por translocação hrdo:pat_id_17995 neant Q87.1 177910 etiological subtype Prader-Willi syndrome due to imprinting mutation Prader-Willi-Syndrom durch Imprinting-Mutation Sindrome de Prader-Willi debido a mutaciones de impronta Sindrome di Prader-Willi da mutazione del centro di imprinting Syndrome de Prader-Willi dû à une mutation d'empreinte Síndrome de Prader-Willi por alteração do imprinting hrdo:pat_id_17996 306700 neant D66 177926 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Forma sintomatica femminile dell'emofilia A Forma sintomática de Hemofilia A em portadoras Forma sintomática de hemofilia A en mujeres portadoras Forme symptomatique d'hémophilie A de la femme conductrice Symptomatic form of hemophilia A in female carriers Symptomatische Form der Hämophilie A in weiblichen Anlageträgerinnen hrdo:pat_id_17997 306900 neant D67 177929 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Forma sintomatica femminile dell'emofilia B Forma sintomática de Hemofilia B em portadoras Forma sintomática de hemofilia B en mujeres portadoras Forme symptomatique d'hémophilie B de la femme conductrice Symptomatic form of hemophilia B in female carriers Symptomatische Form der Hämophilie B in weiblichen Anlageträgerinnen hrdo:pat_id_17998 neant E23.0 178025 group of phenomes Deficiencia hipofisaria múltiple no adquirida sin malformaciones extra-hipofisarias asociadas Deficiências não adquiridas combinadas de hormona pituitária sem malformações extra-pituitárias Hypophysenhormon-Mangel, nicht erworbener, kombinierter, ohne assoziierte Fehlbildung Insuffisance hypophysaire multiple non acquise sans malformations extra-hypophysaires associées Nonacquired combined pituitary hormone deficiencies without extra-pituitary malformations Nonacquired combined pituitary hormone deficiencies without extra-pituitary malformations hrdo:pat_id_17999 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter D020790 10068587 neant E23.2 178029 45369008 C0687720 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 CDI CDI CDI CDI DIC Diabete insipido neurogeno Diabetes insipidus, neurogener Typ Diabetes insípida neurogénica Diabète insipide central Diabète insipide neurogène Neurogenic diabetes insipidus Central diabetes insipidus Diabete insipido centrale Diabetes insipidus central Diabetes insipidus, zentraler Diabetes insípida central Diabète insipide d'origine centrale hrdo:pat_id_18 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 232700 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=glycogen+storage+disease+type+vi+OR+(glycogen+storage+disease+(vi%5BTw%5D+OR+vib%5Btw%5D+OR+(Glycogen+Phosphorylase,+Liver+Form)+deficiency)) E74.0 369 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficit di glicogeno fosforilasi del fegato Deficit di glicogeno fosforilasi epatica Doença no armazenamento de glicogénio, tipo 6A Déficit de fosforilasa hepática Déficit de glucógeno fosforilasa en el hígado Déficit de glucógeno fosforilasa hepática Enfermedad de Hers Enfermedad de almacenamiento de glucógeno tipo 6B GSD da deficit di glicogeno fosforilasi epatica GSD due to liver glycogen phosphorylase deficiency GSD par déficit en phosphorylase hépatique GSD por déficit de glucógeno fosforilasa hepática GSD tipo 6B GSD type 6B GSD type 6B GSD, tipo 6B Glicogenosi da deficit di glicogeno fosforilasi epatica Glicogenosi, tipo 6B Glicogénio, doença no armazenamento de, tipo 6A Glucogenosis por déficit de glucógeno fosforilasa hepática Glucogenosis tipo 6B Glycogen storage disease type 6B Glycogenosis due to liver glycogen phosphorylase deficiency Glycogenosis type 6B Glycogénose type 6B Hepatic glycogen phosphorylase deficiency Hepatic phosphorylase deficiency Hers disease Liver glycogen phosphorylase deficiency Maladie de Hers Malattia da deposito di glicogeno, tipo 6B Malattia di Hers Enfermedad de almacenamiento de glucógeno por déficit de glucógeno fosforilasa hepática Glicogenose tipo 6B, por deficiência de fosforilase hepática Glycogen storage disease due to liver glycogen phosphorylase deficiency Glycogénose par déficit en phosphorylase hépatique Leberphosphorylase-Mangel Malattia da deposito di glicogeno da deficit della glicogeno fosforilasi epatica hrdo:pat_id_180 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 305100 D053358 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Christ-Siemens-Touraine+Syndrome%5Btw%5D Q82.4 181 239007005 C0162359 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive etiological subtype 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Christ-Siemens-Touraine syndrome Displasia ectodermica anidrotica legata all'X Displasia ectodermica ipoidrotica legata all'X Displasia ectodérmica anhidrótica ligada al X Displasia ectodérmica anidrótica ligada ao X Displasia ectodérmica hipoidrótica ligada ao X Dysplasie ectodermique anhidrotique liée à l'X Dysplasie, ektodermale, anhidrotische, X-chromosomale Dysplasie, ektodermale, hypohidrotische, X-chromosomale Syndrome de Christ-Siemens-Touraine Síndrome de Christ-Siemens-Touraine X-linked anhidrotic ectodermal dysplasia XHED XHED XHED Christ-Siemens-Touraine-Syndrom Displasia ectodérmica hipohidrótica ligada al X Dysplasie ectodermique hypohidrotique liée à l'X Sindrome di Christ-Siemens-Touraine Síndrome de Christ-Siemens-Touraine X-linked hypohidrotic ectodermal dysplasia hrdo:pat_id_1800 601561 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Dyssegmental+dysplasia+glaucoma 1804 malformation syndrome Displasia disegmentaria glaucoma Displasia dissegmentar - glaucoma Displasia dissegmentaria - glaucoma Dysplasie dyssegmentaire - glaucome Dysplasie, dyssegmentale - Glaukom Dyssegmental dysplasia - glaucoma hrdo:pat_id_18001 neant E30.1 178040 group of phenomes Peripheral precocious puberty Peripheral precocious puberty Puberdade precoce periférica Pubertad precoz periférica Pubertät, periphere vorzeitige Puberté précoce périphérique hrdo:pat_id_18002 neant P72.2 178045 group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hipotiroidismo congénito transitorio Hipotiroidismo congénito transitório Hypothyreose, kongenitale transiente Hypothyroïdie congénitale transitoire Transient congenital hypothyroidism Transient congenital hypothyroidism hrdo:pat_id_18007 117000 neant G71.2 178145 clinical subtype Doença multiminocore moderada, com envolvimento da mão Malattia ''multiminicore'' attenuata con interessamento della mano Miopatía de multiminicores moderada con afectación de manos Moderate Multiminicore-Krankheit mit Beteiligung der Hand Moderate multiminicore disease with hand involvement Myopathie à multi-minicores modérée avec atteinte des mains hrdo:pat_id_18008 607552 neant G71.2 178148 clinical subtype Antenatal multiminicore disease with arthrogryposis multiplex congenita Doença multiminocore antenatal com artrogripose múltipla congénita Malattia ''multiminicore'' prenatale con artrogriposi multipla congenita Miopatía de multiminicores prenatal con artrogriposis múltiple congénita Multiminicore-Krankheit, antenatale, mit kongenitaler Arthrogryposis multiplex Myopathie à multi-minicores anténatale avec arthrogrypose multiple congénitale hrdo:pat_id_18009 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 608156 neant Q93.5 178303 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Mikrodeletionssyndrom 8q22.1 Monosomia 8q22.1 Monosomie 8q22.1 Monosomie8q22.1 Monosomy 8q22.1 Monosomía 8q22.1 Nablus mask-like facial syndrome Sindrome facial tipo 'máscara de Nablus' Sindrome simil-maschera facciale di Nablus Syndrome "mask-like facial" de Nablus 8q22.1 microdeletion syndrome Microdélétion 8q22.1 Nablus mask-like facial-Syndrom Sindrome da microdelezione 8q22.1 Síndrome de microdeleción 8q22.1 Síndrome máscara facial de Nablus-like hrdo:pat_id_1801 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 268320 neant Q87.8 1806 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia ectodermica - cecità Displasia ectodérmica - cegueira Displasia ectodérmica ceguera Dysplasie ectodermique - cécité Dysplasie, ektodermale - Blindheit Ectodermal dysplasia - blindness hrdo:pat_id_18010 neant L81.8 178307 239133004 C0406811 disease RAPK RAPK RAPK Acropigmentación reticulada de Kitamura Acropigmentation réticulée de Kitamura Acropigmentação reticulada de Kitamura Reticulate acropigmentation of Kitamura Reticulate acropigmentation of Kitamura Retikuläre Hyperpigmentierung vom Typ Kitamura hrdo:pat_id_18011 178311 disease Hiperostose esternocostoclavicular isolada Hiperostosis esternocostoclavicular aislada Hyperostose sternocostoclaviculaire isolée Hyperostose, isolierte sternokostoklavikuläre Isolated sternocostoclavicular hyperostosis Isolated sternocostoclavicular hyperostosis hrdo:pat_id_18012 178315 disease Embryonal sarcoma of the liver Lebersarkom, embryonales Lebersarkom, undifferenziertes Sarcoma embrionale del fegato Sarcoma indifferenziato del fegato Sarcome embryonnaire isolé du foie Sarcome non-différencié du foie UES UES UES UES Undifferentiated sarcoma of the liver Lebersarkom, embryonales undifferenziertes Sarcoma embrionale indifferenziato del fegato Sarcoma embrionario hepático indiferenciado Sarcoma embrionário do fígado Sarcome embryonnaire indifférencié du foie Undifferentiated embryonal sarcoma of the liver hrdo:pat_id_18013 D055371 10069351 178320 315345002 C0242488 particular clinical situation in a disease or syndrome 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Acute lung injury Agression pulmonaire aiguë Lesione polmonare acuta Lesión pulmonar aguda Lesão pulmonar aguda Lungenverletzung, akute hrdo:pat_id_18014 140700 10002058 neant D58.2 178330 C0700299 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anemia com corpos de Heinz Anemia da corpi di Heinz Anemia de cuerpos de Heinz Anémie avec corps de Heinz Heinz body anemia Heinz-Körper-Anämie hrdo:pat_id_18015 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300600 neant H35.5 178333 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown AIED AIED Albinisme oculaire lié à l'X type Forsius-Eriksson Albinismo ocular tipo Forsius-Eriksson Albinismo oculare, tipo Forsius-Eriksson Albinismus, okulärer, Typ Forsius-Eriksson Forsius-Eriksson syndrome Forsius-Eriksson type ocular albinism Forsius-Eriksson-Syndrom Sindrome di Forsius-Eriksson Syndrome de Forsius-Eriksson Síndrome de Forsius-Eriksson Doença ocular tipo ilha Aland Enfermedad ocular de la isla de Åland Maladie ophtalmique de l'île d'Åland Malattia oculare dell'isola di Åland Åland Island eye disease Åland Island-Augenkrankheit hrdo:pat_id_18016 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 600630 614621 614640 neant 178338 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome da ipersensibilità agli UV (raggi ultravioletti) Syndrome de sensibilité aux UV Síndrome de sensibilidad a UV Síndrome de sensibilidade aos UV UV-sensitive syndrome UV-sensitives Syndrom hrdo:pat_id_18017 10067917 178342 116064009 C0334121 disease Inflammatory myofibroblastic tumor Inflammatory myofibroblastic tumor Tumeur myofibroblastique inflammatoire Tumor miofibroblástico inflamatorio Tumor miofibroblástico inflamatório Tumor, inflammatorischer myofibroblastischer hrdo:pat_id_18018 139300 neant E30.1 178345 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Familial hyperestrogenism Ginecomastia prepuberal hereditaria Gynécomastie prépubertaire héréditaire Hereditary prepubertal gynecomastia Hiperestrogenismo familiar Hyperöstrogenismus, familiärer Präpubertäre Gynäkomastie, hereditäre Aromatase excess syndrome Aromatase-Exzess-Syndrom Sindrome da eccesso di aromatosi Syndrome d'excès d'aromatase Síndrome de exceso de aromatasa Síndrome de excesso de aromatase hrdo:pat_id_18019 607326 neant Q77.7 178355 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Displasia de Smith-McCort Displasia de Smith-McCort Displasia di Smith-McCort Dysplasie de Smith-McCort Smith-McCort dysplasia Smith-McCort-Dysplasie hrdo:pat_id_1802 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601375 C536180 neant Q82.8 1808 C1832411 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Christianson-Fourie syndrome Christianson-Fourie, síndrome de Christianson-Fourie-Syndrom Sindrome di Christianson Fourie Syndrome de Christianson-Fourie Síndrome de Christianson-Fourie Síndrome de Christianson-Fourie Displasia ectodermica idrotica, tipo Christianson-Fourie Displasia ectodérmica hidrótica tipo Christianson-Fourie Displasia ectodérmica hidrótica, tipo Christianson-Fourie Dysplasie ectodermique hidrotique type Christianson-Fourie Dysplasie, ektodermale hidrotische, Typ Christianson-Fourie Hidrotic ectodermal dysplasia, Christianson-Fourie type hrdo:pat_id_18020 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 610125 neant Q11.2 178364 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 MCOPS5 MCOPS5 MCOPS5 Microftalmia sindrómica tipo 5 Microphtalmie/anophtalmie syndromique due à une mutation de OTX2 Syndromale Mikrophthalmie durch OTX2-Genmutation Syndromic microphthalmia/anophthalmia due to OTX2 mutation Microftalmia sindromica da mutazione di OTX2 Microftalmia sindrómica debido a una mutación en OTX2 Microftalmia sindrómica por mutação no gene OTX2 Microphtalmie syndromique type 5 Syndromale Mikrophthalmie Typ 5 Syndromic microphthalmia type 5 hrdo:pat_id_18021 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q75.8 178377 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Osteoesclerosis - retraso en el desarrollo - craneosinostosis Osteosclerose - atraso do desenvolvimento - craniossinostose Osteosclerosis - developmental delay - craniosynostosis Osteosclerosis - developmental delay - craniosynostosis Osteosklerose - Entwicklungsverzögerung - Kraniosynostose Ostéosclérose - retard de développement - crâniosynostose hrdo:pat_id_18022 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 192950 neant Q66.8 178382 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown 'Piede ''rocker-bottom'' congenito ' Congenital convex foot Congenital convex pes valgus Congenital rocker-bottom foot Fuß, konvexer, kongenitaler Pes valgus convesso congenito Pie convexo congénito Pie en mecedora congénito Pie valgo convexo congénito Pied en piolet congénital Piede convesso congenito Schaukelfuß Astrágalo vertical congénito Astrágalo vertical, isolado, congénito Congenital vertical talus Pied convexe congénital Piede talo verticale congenito Vertikaler Talus, kongenitaler hrdo:pat_id_18023 612301 neant Q78.2 178389 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia Autosomal recessive osteopetrosis type 7 Osteopetrose mit Osteoklastenmangel und Hypogammaglobulinämie, autosomal-rezessive Form Osteopetrose, autosomal-rezessive, Typ 7 Osteopetrosis autosómica recesiva tipo 7 Osteopetrosis pobre en osteoclastos autosómica recesiva con hipogammaglobulinemia Ostéopétrose autosomique récessive de type 7 Osteopetrose - Hypogammaglobulinämie Osteopetrose - hipogamaglobulinemia Osteopetrosi - ipogammaglobulinemia Osteopetrosis - hipogammaglobulinemia Osteopetrosis - hypogammaglobulinemia Ostéopétrose - hypogammaglobulinémie hrdo:pat_id_18024 neant 178396 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Doença hemorrágica por mutação de Pittsburg na alfa-1 antitripsina Enfermedad hemorrágica debido a mutación Pittsburgh en alfa 1-antitripsina Hemorrhagic disease due to alpha-1 antitrypsin Pittsburgh mutation Hämorrhagische Krankheit durch Alpha-1-Antitrypsin Pittsburg Mutation Hémorragie due à une mutation le l'alpha-1 antittrypsine type Pittsburgh Malattia emorragica da mutazione di alfa-1 antitripsina Pittsburgh hrdo:pat_id_18025 606768 neant G71.0 178400 disease Distal anterior compartment myopathy Miopatía de compartimento distal anterior Myopathie du compartiment distal antérieur Distal myopathy with anterior tibial onset Distale Myopathie mit Beginn am vorderen Schienenbein Miopatia distal com início tibial anterior Miopatia distale a esordio nella tibia anteriore Miopatía distal de inicio en músculo tibial anterior Myopathie distale du muscle tibial antérieur hrdo:pat_id_18026 300696 neant G71.0 178461 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Miopatia legata all'X con atrofia muscolare posturale Miopatia ligada ao X com atrofia dos músculos posturais Miopatía ligada a X con atrofia del músculo postural Myopathie liée à l'X avec atrophie des muscles posturaux X-chromosomale Myopathie mit posturaler Muskelatrophie X-linked myopathy with postural muscle atrophy hrdo:pat_id_18027 603689 neant G71.0 178464 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ADMERF ADMERF ADMERF Edström Myopathy Edström-Myopathie HIBM-ERF HIBM-ERF HIBM-ERF Hereditary inclusion body myopathy with early respiratory failure Miopatía de Esdtröm Miopatía distal con fallo respiratorio precoz Miopatía hereditaria con cuerpos de inclusión con fallo respiratorio precoz Miopatía miofibrilar con fallo respiratorio precoz Myofibrillar myopathy with early respiratory failure Myopathie d'Edström Myopathie myofibrillaire avec atteinte respiratoire précoce Myopathie à corps d'inclusion héréditaire avec atteinte respiratoire précoce Myopathie à inclusions héréditaire avec atteinte respiratoire précoce Hereditary proximal myopathy with early respiratory failure Hereditäre Myopathie mit frühem Atemversagen Miopatia ereditaria con insufficienza respiratoria precoce Miopatia hereditária com insuficiência respiratória precoce Miopatía hereditaria con fallo respiratorio precoz Myopathie proximale héréditaire avec atteinte respiratoire précoce hrdo:pat_id_18028 156200 612580 612581 612621 613970 614104 614113 614254 614255 614256 614257 614563 615074 615075 neant 178469 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate etiological subtype Autosomal dominant nonsyndromic intellectual deficit Défice intelectual não sindrómico, autossómico dominante Déficit intelectual autosómico dominante no sindrómico Déficit intellectuel autosomique dominant non-syndromique Intelligenzminderung, nicht-syndromale, autosomal-dominante Ritardo mentale non sindromico, autosomico dominante hrdo:pat_id_18029 Variabel Variabile Variable Variable Variable Variable Variável neant A05.1 178475 398530003 C1306794 etiological subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Botulisme des plaies Botulisme par inoculation Botulisme par toxi-infection cutanée Botulismo cutaneo tossino-mediato Botulismo cutáneo mediado por toxina Botulismo da inoculazione Botulismo infettivo cutaneo Botulismo infettivo della cute Botulismo por infecciones de piel Botulismo por infección cutánea Botulismo por inoculación Botulismo por toxiinfección de la piel Botulismo tossino-mediato della cute Botulismus, infektiöser kutaner Cutaneous infectious botulism Cutaneous toxin-mediated botulism Impfbotulismus Inoculation botulism Kutaner Toxin-vermittelter Botulismus Skin infectious botulism Skin toxin-mediated botulism Botulisme par blessure Botulismo da ferita Botulismo de ferida Botulismo por herida Wound botulism Wundbotulismus hrdo:pat_id_1803 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q82.8 1809 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Halal-Setton-Wang syndrome Halal-Setton-Wang, síndrome de Halal-Setton-Wang-Syndrom Sindrome di Halal-Setton-Wang Syndrome de Halal-Setton-Wang Síndrome de Halal-Setton-Wang Síndrome de Halal-Setton-Wang Displasia ectodermica idrotica, tipo Halal Displasia ectodérmica hidrótica, tipo Halal Displasia ectodérmica hidrótica, tipo Halal Dysplasie ectodermique hidrotique type Halal Dysplasie, ektodermale hidrotische, Typ Halal Hidrotic ectodermal dysplasia, Halal type hrdo:pat_id_18030 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant A05.1 178478 414488002 C0238027 clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Botulisme du nourrisson Botulisme intestinal de l'enfant Botulisme néonatal Botulisme par colonisation intestinale de l'enfant Botulisme par toxi-infection intestinale de l'enfant Botulismo con toxemia intestinal infantil Botulismo infantile da tossiemia intestinale Botulismo intestinal infantil Botulismo intestinal infantil por toxinas Botulismo intestinale neonatale Botulismo intestinale tossino-mediato infantile Botulismo neonatale Infant intestinal botulism Infant intestinal toxemia botulism Infant intestinal toxin-mediated botulism Infantile botulism Botulisme infantile Botulismo infantil Botulismo infantil Botulismo infantile Infant botulism Säuglingsbotulismus hrdo:pat_id_18031 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável neant A05.1 178481 clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Botulisme par colonisation intestinale Botulisme par toxi-infection intestinale Botulismo con toxemia intestinal Botulismo da colonizzazione intestinale Botulismo da tossiemia intestinale Botulismo intestinal por toxinas Botulismo intestinale tossino-mediato Botulismo por colonización intestinal Botulismus, intestinaler, toxämischer Intestinal colonization botulism Intestinal toxemia botulism Intestinal toxin-mediated botulism Toxi-infection botulique intestinale Botulisme intestinal Botulismo intestinal Botulismo intestinale Botulismus, intestinaler Intestinal botulism Toxemia por botulismo intestinal hrdo:pat_id_18032 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant A05.1 178487 clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Adult intestinal colonization botulism Adult intestinal toxemia botulism Adult intestinal toxin-mediated botulism Botulisme "infant-like" de l'adulte Botulisme colonisant Botulisme par colonisation intestinale de l'adulte Botulisme par toxi-infection intestinale de l'adulte Botulismo con toxemia intestinal de adultos Botulismo dell'adulto da colonizzazione intestinale Botulismo dell'adulto da tossiemia intestinale Botulismo infantile-simile Botulismo intestinal del adulto por toxinas Botulismo intestinale tossino-mediato dell'adulto Botulismo por colonización intestinal en el adulto Botulismo tipo infantil Botulismus, intestinaler, des Erwachsenen Erwachsenenbotulismus Infant-like botulism Adult intestinal botulism Botulisme intestinal de l'adulte Botulismo intestinal del adulto Botulismo intestinal do adulto Botulismo intestinale dell'adulto Botulismus, intestinaler, adulter hrdo:pat_id_18033 neant H35.3 178493 312898002 C0730271 disease Maculopathie myopique Maculopatía miópica Makulopathie, myopische Myopic maculopathy Degeneración macular miópica Degeneração macular miópica Makuladegeneration, myopische Myopic macular degeneration Myopic macular degeneration Myopie maculaire dégénérante hrdo:pat_id_18035 612541 neant D82.2 178503 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hipertensión arterial pulmonar - leucopenia - defecto septal atrial Hypertension artérielle pulmonaire - leucopénie - communication interauriculaire Ipertensione arteriosa polmonare - leucopenia - difetto del setto atriale Pulmonale arterielle Hypertonie - Leukopenie - Vorhofseptumdefekt Pulmonary arterial hypertension - leukopenia - atrial septal defect Sindrome di Dursun Dursun syndrome Dursun-Syndrom Hipertensão arterial pulmonar - leucopenia - comunicação inter-auricular Sindrome di Dursun Syndrome de Dursun Síndrome de Dursun hrdo:pat_id_18036 613658 neant 178506 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Brain calcification, Rajab type Brain calcification, Rajab type Calcificación cerebral tipo Rajab Calcification cérébrale type Rajab Calcificação cerebral, tipo Rajab Verkalkung des Gehirns vom Typ Rajab hrdo:pat_id_18037 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 168605 neant 178509 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Parkinsonism avec hypoventilation alvéolaire et depression Parkinsonism with alveolar hypoventilation and mental depression Parkinsonismo con hipoventilación alveolar y depresión mental Perry syndrome Perry-Syndrom Sindrome di Perry Syndrome de Perry Síndrome de Perry Síndrome de Perry hrdo:pat_id_18038 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant C84.0 178512 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Mucinosis folicular asociada a micosis fungoide Muzinose, follikuläre, Mycosis fungoides-assoziierte Mycosis fongoïde avec mucinose folliculaire Mycosis fungoides-associated follicular mucinosis Folliculotropic mycosis fungoides Micose fungóide foliculotrópica Micosi fungoide follicolotropica Micosis fungoide foliculotropa Mycosis fongoïde folliculotrope Mycosis fungoides, follikulotrope hrdo:pat_id_18039 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D056267 neant C84.0 178517 404120006 C1276140 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Pagetoid reticulosis, Woringer-Kolopp type Pagetoide Retikulose Typ Woringer-Kolopp Reticulosis pagetoide tipo Woringer-Kolopp Réticulose pagétoïde type Woringer-Kolopp Localized pagetoid reticulosis Reticulose pagetóide localizada Reticulosi localizzata pagetoide Reticulosis pagetoide localizada Retikulose, lokalisierte pagetoide Réticulose pagétoïde localisée hrdo:pat_id_1804 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 601319 C537741 1811 C1832473 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia ectodermica odonto-micro-ungueale Displasia odonto-microniquial Displasia odontomicroniquial Dysplasie ectodermique odonto-micronychiale Dysplasie, ektodermale odonto-mikronychiale Odontomicronychial dysplasia hrdo:pat_id_18040 neant C84.4 178522 disease Linfoma cutáneo primario pleomórfico de células pequeñas/medianas T CD4+ Linfoma primário cutâneo de células T CD4+ pleomórficas e de pequeno/médio tamanho Lymphome T cutané à cellules pléomorphes de taille petite à moyenne CD4+ Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma T-Zell-Lymphom, primär kutanes, klein/mittelgroßzelliges pleomorphes, CD4-+ hrdo:pat_id_18042 neant C84.4 178528 disease Linfoma cutáneo primario epidermotropo agresivo de células T CD8+ Linfoma primário cutâneo epidermotrópico agressivo de celúlas T CD8+ Lymphome T cutané épidermotrope CD8+ d'évolution agressive Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma T-Zell-Lymphom, primär kutanes, aggressives epidermotropes, CD8+ hrdo:pat_id_18044 neant C84.4 178533 disease Linfoma cutaneo primitivo a cellule T gamma/delta-positivo Linfoma cutáneo de células T gamma/delta-positivo Linfoma cutâneo de células gama/delta-positivas Lymphome T cutané primitif de phénotype TCRgamma/delta Primary cutaneous gamma/delta-positive T-cell lymphoma Primär kutanes T-Zell-Lymphom, gamma/delta-positives hrdo:pat_id_18045 D018442 178536 404140004 420028002 C1275321 disease PCMZL PCMZL PCMZL Linfoma cutáneo primario de células B de la zona marginal Linfoma primário cutâneo de células B da zona marginal Lymphome B cutané de la zone marginale Primary cutaneous marginal zone B-cell lymphoma Primary cutaneous marginal zone B-cell lymphoma Primär kutanes Marginalzonen-B-Zell-Lymphom hrdo:pat_id_18046 neant C82.6 178540 disease PCFCL PCFCL PCFCL Linfoma cutáneo primario del centro folicular Linfoma primário cutâneo do centro folicular Lymphom, primär kutanes, follikuläres Lymphomes B centrofolliculaire cutané primitif Primary cutaneous follicle center lymphoma Primary cutaneous follicle center lymphoma hrdo:pat_id_18047 neant C83.3 178544 disease PCDLBCL,LT PCLBCL,LT B-Zell-Lymphom, diffuses großzelliges, primär kutanes, vom leg Typ Linfoma difuso cutáneo primario de células B grandes, tipo pierna Linfoma primário cutâneo difuso de células B de grande tamanho, tipo perna Lymphome cutané à grandes cellules "de type jambe" Primary cutaneous diffuse large B-cell lymphoma, leg type Primary cutaneous diffuse large B-cell lymphoma, leg type hrdo:pat_id_18048 178548 group of phenomes Indolent primary cutaneous T-cell lymphoma Linfoma cutaneo primitivo indolente a cellule T Linfoma cutáneo primario de células T indolente Linfoma cutâneo de células T, indolente Lymphome T cutané primitif d'évolution indolente Primär kutanes T-Zell-Lymphom, indolentes hrdo:pat_id_18049 178551 group of phenomes Aggressive primary cutaneous T-cell lymphoma Linfoma cutaneo primitivo aggressivo a cellule T Linfoma cutáneo primario de células T agresivo Linfoma cutâneo de células T, agressivo Lymphome T cutané primitif d'évolution agressive Primär kutanes T-Zell-Lymphom, aggressives hrdo:pat_id_1805 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 225040 1812 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Displasia ectodermica - ritardo mentale - malformazioni del sistema nervoso centrale Displasia ectodérmica - atraso mental - malformação do SNC Displasia ectodérmica - déficit intelectual - malformación del sistema nervioso central Dysplasie ectodermique - déficit intellectuel - malformation du système nerveux central Dysplasie, ektodermale - geistige Retardierung - Fehlbildungen des Zentralnervensystems Ectodermal dysplasia - intellectual deficit - central nervous system malformation hrdo:pat_id_18050 neant 178554 group of phenomes Aggressive primary cutaneous B-cell lymphoma Linfoma cutaneo primitivo aggressivo a cellule B Linfoma cutáneo primario de células B agresivo Linfoma cutâneo de células B, agressivo Lymphome B cutané primitif d'évolution agressive Primär kutanes B-Zell-Lymphom, aggressives hrdo:pat_id_18051 178557 group of phenomes Indolent primary cutaneous B-cell lymphoma Linfoma cutaneo primitivo indolente a cellule B Linfoma cutáneo primario de células B indolente Linfoma cutâneo de células B, indolente Lymphome B cutané primitif d'évolution indolente Primär kutanes B-Zell-Lymphom, indolentes hrdo:pat_id_18053 neant 178563 group of phenomes Linfoma cutaneo primitivo a cellule B Linfoma cutáneo primario de células B Linfoma cutâneo de células B Lymphome B cutané primitif Primary cutaneous B-cell lymphoma Primär kutanes B-Zell-Lymphom hrdo:pat_id_18054 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant C84.0 178566 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Micose fungóide e variantes Micosis fungoide y variantes Mycosis fongoïde et variants Mycosis fungoides and variants Mycosis fungoides and variants Mycosis fungoides-Varianten hrdo:pat_id_18067 178996 group of phenomes Immunologic neutropenia Neutropenia inmunológica Neutropenie, immunologische Neutropénie immunologique Acquired neutropenia Acquired neutropenia Neutropenia adquirida Neutropenia adquirida Neutropenie, erworbene Neutropénie acquise hrdo:pat_id_18068 179006 group of phenomes Defect in adaptive immunity Defecto en la inmunidad adaptativa Defekt der adaptiven Immunität Deficiência na imunidade adaptativa Immunodéficience primaire par défaut de l'immunité adaptative Primary immunodeficiency due to a defect in adaptive immunity hrdo:pat_id_1808 1823 malformation syndrome Displasia epifisaria localizada Displasia epifisaria localizzata Displasia epifisária localizada Dysplasie épiphysaire localisée Dysplasie, epiphysäre lokalisierte Localized epiphyseal dysplasia hrdo:pat_id_18082 neant E66.8 179490 group of phenomes Adipositas durch kongenitale Leptin-Resistenz Obesidad debido a resistencia congénita a la leptina Obesidade por resistência congénita à leptina Obesity due to congenital leptin resistance Obesity due to congenital leptin resistance Obésité due à une résistance congénitale à la leptine hrdo:pat_id_18083 614963 neant E66.8 179494 disease Adipositas durch Leptin-Rezeptor-Genmutationen Obesidad debido a déficit del gen receptor de leptina Obesidade por deficiência no gene do recetor da leptina Obesity due to leptin receptor gene deficiency Obesità da deficit del recettore della leptina Obésité due à un déficit du recepteur de la leptine hrdo:pat_id_18084 180062 group of phenomes Malformación uterovaginal Malformation utéro-vaginale Malformazione uterovaginale Malformação uterovaginal Uterovaginal malformation Uterovaginale Fehlbildung hrdo:pat_id_18085 192000 neant 180065 group of phenomes Malformación uterovaginal no sindrómica Malformation utéro-vaginale non syndromique Malformazione uterovaginale non sindromica Malformação uterovaginal, não-sindrómica Non-syndromic uterovaginal malformation Uterovaginale Fehlbildung, nicht-syndromale hrdo:pat_id_18086 neant Q51.8 180068 group of phenomes Aplasia bilateral incompleta del conducto de Müller Aplasia bilaterale incompleta del dotto mülleriano Aplasie bilatérale incomplète des canaux de Müller Incomplete bilateral aplasia of the Müllerian duct Partielle bilaterale Aplasie des Müllerschen Gangs Aplasia bilateral parcial del conducto de Müller Aplasia bilaterale parziale del dotto mülleriano Aplasia parcial bilateral do ducto mulleriano Aplasie bilatérale partielle des canaux de Müller Aplasie des Müller-Ganges, bilaterale inkomplette Partial bilateral aplasia of the Müllerian duct hrdo:pat_id_18087 neant Q51.4 180071 group of phenomes Unicornuate uterus Utero unicorne Uterus unicornis Utérus unicorne Útero unicorne Aplasia monolaterale del dotto Mülleriano Aplasia unilateral del conducto de Müller Aplasia unilateral do ducto mulleriano Aplasie des Müller-Ganges, unilaterale Aplasie unilatérale des canaux de Müller Unilateral aplasia of the Müllerian duct hrdo:pat_id_18088 neant Q51.4 180074 morphological anomaly Aplasia unilateral completa del conducto de Müller Aplasia unilaterale completa del dotto mülleriano Aplasie des Müller-Ganges, komplette unilaterale Aplasie müllerienne unilatérale complète Complete unilateral aplasia of the Müllerian duct Unicornuate uterus without rudimentary horn Utero unicorne senza corno rudimentale Uterus unicorne sans utérus rudimentaire Uterus unicornis ohne rudimentäres Horn Útero unicorne sin cuerno rudimentario Echter Uterus unicornis True unicornuate uterus Utero unicorne vero Uterus unicorne vrai Útero unicorne verdadero Útero unicórneo verdadeiro hrdo:pat_id_18089 neant Q51.4 180079 morphological anomaly Aplasia monolaterale incompleta del dotto Mülleriano Aplasia unilateral incompleta del conducto de Müller Aplasie des Müller-Ganges, inkomplette unilaterale Aplasie müllerienne unilatérale incomplète Incomplete unilateral aplasia of the Müllerian duct Unicornuate uterus with rudimentary horn Utero unicorne con corno rudimentale Uterus unicornis mit rudimentärem Horn Utérus unicorne avec utérus rudimentaire controlatérale Útero unicorne con cuerno rudimentario Pseudo unicornuate uterus Pseudo-Uterus unicornis Utero pseudounicorne Utérus pseudo-unicorne Útero pseudo-unicorne Útero pseudo-unicórneo hrdo:pat_id_1809 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 10028197 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Epiphyseal+dysplasia%5Btw%5D+AND+multiple%5Bti%5D Q77.3 251 59708000 C0026760 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Displasia poliepifisaria Displasia poliepifisaria Displasia poliepifisária Dysplasie polyépiphysaire Dysplasie, polyepiphysäre Polyepiphyseal dysplasia Displasia epifisaria multipla Displasia epifisaria múltiple Displasia epifisária múltipla Dysplasie épiphysaire multiple Dysplasie, epiphysäre multiple Multiple epiphyseal dysplasia hrdo:pat_id_18090 neant Q51.1 180086 morphological anomaly Bicervical bicornuate uterus Utero bicorne bicervicale Uterus bicornis, bizervikaler Utérus bicorne bicervical Útero bicorne bicervical Didelphys uterus Utero didelfo Uterus Didelphys Utérus didelphe Útero didelfo Útero didelfo hrdo:pat_id_18091 neant Q51.1 180106 clinical subtype Bicervical bicornuate uterus one-eyed hemi-vagina Utero bicorne bicervicale con ritenzione mestruale monolaterale Utérus bicorne bicervical avec hémivagin borgne Útero bicorne bicervical con vagina con orificio único Bicervical bicornuate uterus and blind hemi-vagina Utero bicorne bicervicale ed emivagina cieca Uterus bicornis, bizervikaler, mit einseitiger Vaginalatresie Utérus bicorne bicervical avec rétention menstruelle unilatérale Útero bicorne bicervical y hemivagina ciega Útero bicórneo bicervical e hemi-vagina cega hrdo:pat_id_18092 neant Q51.1 180111 clinical subtype Bicervical bicornuate uterus with patent cervix and vagina Utero bicorne bicervicale con cervice e vagina pervie Uterus bicornis, bizervikaler, mit offenem Zervix und Vagina Utérus bicorne bicervical avec vagin et col utérin perméables Útero bicorne bicervical con cuello del útero y vagina patentes Útero bicórneo bicervical com colo e vagina patentes hrdo:pat_id_18093 neant Q51.3 180114 group of phenomes Unicervical bicornuate uterus Utero bicorne unicervicale Uterus bicorne unicervical Uterus bicornis, unizervikaler Útero bicorne unicervical Útero bicórneo unicervical hrdo:pat_id_18094 neant Q51.3 180118 14689000 C0266397 morphological anomaly Utérus cordiforme Cordiformis uterus Utero cordiforme Uterus cordiformis Utérus à fond échancré Útero cordiforme Útero cordiforme hrdo:pat_id_18095 10062606 neant Q51.2 180122 group of phenomes Utérus communiquant Septate uterus Utero settato Uterus Septus Utérus cloisonné Útero septado Útero septo hrdo:pat_id_18096 neant Q51.2 180126 morphological anomaly Total septate uterus Utero settato totale Uterus, komplett septierter Utérus cloisonné total Útero septo total Útero totalmente septado hrdo:pat_id_18097 neant Q51.2 180129 morphological anomaly Subtotal septate uterus Utero settato subtotale Uterus, teilseptierter Utérus cloisonné subtotal Útero septo subtotal Útero subseptado hrdo:pat_id_18098 10004550 neant Q51.3 180134 31401003 C0266387 group of phenomes Hémi-utérus Hémimatrice Bicornuate uterus Utero bicorne Uterus bicornis Utérus bicorne Útero bicorne Útero bicórneo hrdo:pat_id_18099 10063146 neant Q51.8 180139 morphological anomaly Hipoplasia uterina Hipoplasia uterina Hypoplasie utérine Ipoplasia uterina Uterine hypoplasia Uterushypoplasie hrdo:pat_id_18100 neant Q51.0 180142 morphological anomaly Agenesia e aplasia del corpo uterino Agenesia e aplasia do corpo uterino Agenesia y aplasia del cuerpo uterino Agenesis and aplasia of uterine body Agénésie et aplasie du corps de l'utérus Uterusagenesie oder -aplasie hrdo:pat_id_18101 neant Q51.5 180145 morphological anomaly Agenesia y aplasia del cuello del útero Agénésie et aplasie du col de l'utérus Aplasia e agenesia cervical uterina Aplasia e agenesia del collo dell'utero Cervix uteri, Agenesie oder Aplasie Uterine cervical aplasia and agenesis hrdo:pat_id_18102 180148 group of phenomes Malformación uterovaginal sindrómica Malformation utéro-vaginale syndromique Malformazione uterovaginale sindromica Malformação uterovaginal sindrómica Syndromic uterovaginal malformation Uterovaginale Fehlbildung, syndromale hrdo:pat_id_18103 180151 group of phenomes Malformación vaginal rara Malformation vaginale rare Malformazione vaginale rara Malformação vaginal rara Rare vaginal malformation Seltene Fehlbildung der Vagina hrdo:pat_id_18104 neant Q52.1 180154 47054003 C0266411 morphological anomaly Septate vagina Vagin cloisonné Vagina septada Vagina septada Vagina settata Vagina, septierte hrdo:pat_id_18105 neant Q52.1 180157 clinical subtype Longitudinal vaginal septum Septo vaginal longitudinal Septo vaginal longitudinal Setto vaginale longitudinale Vagin cloisonné longitudinal Vaginalseptum, longitudinales hrdo:pat_id_18106 neant Q52.1 180160 clinical subtype Diaphragme vaginal Septo vaginal transversal Septo vaginal transverso Setto vaginale trasversale Transverse vaginal septum Vagin cloisonné transversal Vaginalseptum, transversales hrdo:pat_id_18107 180163 group of phenomes Malformación mamaria rara Malformation mammaire rare Malformazione rara della mammella Malformação rara da mama Rare breast malformation Seltene Brustfehlbildung hrdo:pat_id_18109 180170 group of phenomes Eccessivo volume della mammella o mammella soprannumeraria Exceso de volumen o número de mamas Excess breast volume or number Excesso de volume ou de número mamário Malformation mammaire rare par excès Überzählige Brustanlagen (Mamillen und/oder Drüsengewebe) hrdo:pat_id_1811 neant Q87.0 1825 malformation syndrome Finucane-Kurtz-Scott syndrome Finucane-Kurtz-Scott, síndrome de Finucane-Kurtz-Scott-Syndrom Sindrome di Finucane-Kurtz-Scott Syndrome de Finucane-Kurtz-Scott Síndrome de Finucane-Kurtz-Scott Síndrome de Finucane-Kurtz-Scott Displasia epifisaria - sordera - dismorfia Displasia epifisaria - sordità - dismorfismi Displasia epifisária - surdez - dismorfia Dysplasie épiphysaire - surdité - dysmorphie Dysplasie, epiphysäre - Hörverlust - Dysmorphien Epiphyseal dysplasia - hearing loss - dysmorphism hrdo:pat_id_18110 180173 group of phenomes Defecto de volumen o número de mamas Deficient breast volume or number Deficit di volume o numero delle mammelle Fehlende Brustanlagen (Mamillen und/oder Drüsengewebe) Malformation mammaire rare par défaut Volume mamário ou número deficiente hrdo:pat_id_18111 113670 neant N62 180176 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly Familial juvenile gigantomastia Gigantomastie juvénile familiale Gigantomastie, juvenile Hipertrofia juvenil de la mama Hypertrophie mammaire virginale Ipertrofia mammaria giovanile Ipertrofia mammaria virginale Virginal breast hypertrophy Familial juvenile hypertrophy of the breast Gigantomastia Gigantomastia Gigantomastia Gigantomastie Hypertrophie mammaire juvénile familiale hrdo:pat_id_18112 neant Q83.1 180182 morphological anomaly Accessory breasts Brustdrüse, akzessorische Mamas accesorias Mammelle accessorie Polimastia Polimastia Polymastia Polymastie Polymastie Brustdrüse, überzählige Mamas supernumerarias Mamilos supranumerários Mammelle soprannumerarie Sein surnuméraire Supernumerary breasts hrdo:pat_id_18113 113700 neant Q83.0 180188 morphological anomaly Amasie, isolierte Amastia Amastia aislada Amastia isolata Amastie isolée Isolated amastia Mammaaplasie Aplasia mamaria aislada Aplasia mammaria isolata Aplasia mamária Aplasie mammaire isolée Brustaplasie Isolated breast aplasia hrdo:pat_id_18114 180193 group of phenomes Aplasia mamária sindrómica Aplasia/ipoplasia mammaria sindromica Brustaplasie, syndromale Hipoplasia/aplasia mamaria sindrómica Hypoplasie/aplasie mammaire syndromique Syndromic breast hypoplasia/aplasia hrdo:pat_id_18116 180199 group of phenomes Doença genital externa ou interna, não-malformativa Enfermedad genital externa o interna no malformativa Malattia non malformativa dei genitali interni o esterni Non-malformative external or internal genital disease Pathologie génitale externe ou interne autre que malformative Seltene Krankheit der externen oder inneren Genitalorgane, nicht-malformativ hrdo:pat_id_18117 180202 group of phenomes Doença mamária rara, não-malformativa Enfermedad mamaria rara no malformativa Malattia non malformativa rara della mammella Pathologie mammaire rare autre que malformative Rare non-malformative breast disease Seltene Krankheit der Brust, nicht-malformativ hrdo:pat_id_18118 180205 group of phenomes Doença úterovaginal ou vulvovaginal rara, não-malformativa Enfermedad uterovaginal o vulvovaginal rara no malformativa Malattia vulvo-vaginale o utero-vaginale non malformativa rara Pathologie utéro-vaginale ou vulvo-vaginale rare autre que malformative Rare non-malformative utero-vaginal or vulvo-vaginal disease Seltene uterovaginale oder vulvovaginale Krankheit, nicht-malformativ hrdo:pat_id_18119 180208 group of phenomes Anomalia da puberdade e/ou do ciclo menstrual Anomalia della pubertà e/o del ciclo mestruale Anomalie du cycle menstruel et/ou de la puberté Anomaly of puberty or/and menstrual cycle Anomalía de la pubertad y/o del ciclo menstrual Störungen der Pubertät und/oder der Menstruation hrdo:pat_id_1812 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 242900 C536629 10048699 1830 C0877024 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia espondilo epifisaria - síndrome nefrótico Displasia espondilo-epifisária - síndrome nefrótico Dysplasie spondyloépiphysaire - syndrome néphrotique Schimke syndrome Schimke, síndrome de Schimke-Syndrom Sindrome di Schimke Sindrome nefrosica da displasia spondiloepifisaria Spondyloepiphyseal dysplasia - nephrotic syndrome Spondyloepiphysäre Dysplasie - nephrotisches Syndrom Syndrome de Schimke Síndrome de Schimke Síndrome de Schimke Displasia immuno-ossea di Schimke Displasia imuno-óssea, tipo Schimke Displasia inmuno ósea de Schimke Dysplasie immuno-osseuse de Schimke Knochendysplasie, immuno-ossäre, Typ Schimke Schimke immuno-osseous dysplasia hrdo:pat_id_18123 180220 group of phenomes Tumeur rare des annexes de l'utérus Adnextumor, seltener Rare uterine adnexal tumor Tumeur rare des annexes utérines Tumor dos anexos uterino raro Tumor raro de los anexos uterinos Tumore annessiale raro dell'utero hrdo:pat_id_18125 D018236 180226 28047004 C0206659 group of phenomes Carcinoma embrionale Carcinoma embrionario Carcinoma embrionário Carcinome embryonnaire Embryonal carcinoma Embryonales Karzinom hrdo:pat_id_18126 180229 28325008 C0334518 disease Poliembrioma Poliembrioma Poliembrioma Polyembryom Polyembryoma Polyembryome hrdo:pat_id_18128 180234 32844007 C0334524 disease Keimzelltumor, gemischter Mixed germ cell tumor Tumeur germinale maligne mixte Tumor misto de células germinativas Tumor mixto de celulas germinales Tumore a cellule germinali miste hrdo:pat_id_18129 neant D28.2 180237 disease Benign tumor of fallopian tube Benigner Tumor der Tuba Fallopia Tumeur bénigne de la trompe Tumor benigno das trompas de falópio Tumor benigno de la trompa de Falopio Tumore benigno delle tube di Falloppio hrdo:pat_id_1813 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 109120 C535537 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=iris+dysplasia+hypertelorism+psychomotor+retardation 1831 C2930925 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 De Hauwere - Leroy - Adriaenssens, síndrome de De Hauwere-Chitty syndrome De Hauwere-Leroy-Adriaenssens-Syndrom Displasia del iris - hipertelorismo - sordera Dysplasie irienne - hypertélorisme - surdité Iris dysplasia - hypertelorism - deafness Sindrome di De Hauwere-Leroy-Adriaenssens Syndrome de De Hauwere-Chitty Síndrome de De Hauwere - Leroy - Adriaenssens Síndrome de De Hauwere-Chitty De Hauwere syndrome Displasia da íris - hipertelorismo - surdez Displasia iridea - ipertelorismo - sordità Irisdysplasie - Hypertelorismus - Schwerhörigkeit Syndrome de De Hauwere Síndrome de De Hauwere hrdo:pat_id_18131 neant C57.0 180242 363444001 disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Cancer de la trompe Cancer of fallopian tube Cancro delle tube di Falloppio Cáncer de la trompa de Falopio Tubenkarzinom, primäres Malignant tumor of fallopian tube Maligner Tumor der Tuba Fallopia Tumeur maligne de la trompe Tumor maligno da trompa de Falópio Tumor maligno de la trompa de Falopio Tumore maligno delle tube di Falloppio hrdo:pat_id_18133 neant C52 180247 254893005 C0262659 disease Tumeur épithéliale maligne du vagin Tumor epitelial maligno de vagina Tumore epiteliale maligno della vagina Vaginal malignant epithelial tumor Vaginaltumor, epithelialer maligner Cancro vaginal Carcinoma de vagina Carcinoma della vagina Carcinome du vagin Vaginal carcinoma Vaginalkrebs hrdo:pat_id_18134 180250 group of phenomes Cancro da mama raro Rare breast tumor Seltener Tumor der Brust Tumeur rare du sein Tumor de mama raro Tumore della mammella raro hrdo:pat_id_18135 neant D24 180253 group of phenomes Cancro da mama benigno, raro Rare benign breast tumor Seltener benigner Tumor der Brust Tumeur bénigne rare du sein Tumor de mama benigno raro Tumore della mammella raro benigno hrdo:pat_id_18136 180257 group of phenomes Cancer rare du sein Cancro raro della mammella Cáncer de mama raro Rare breast cancer Seltener Brustkrebs Cancro da mama maligno, raro Rare malignant breast tumor Seltener maligner Tumor der Brust Tumeurs malignes rare du sein Tumor maligno raro de mama Tumore maligno raro della mammella hrdo:pat_id_18137 D003557 10011813 neant D24 180261 C0010701 disease Cistosarcoma filodes Cistosarcoma filoides Cystosarcoma phyllode Cystosarcoma phylloide Cystosarcoma phylloides Phylloide tumor Tumor filoides Tumor, phylloider Phyllode tumor Phylloidestumor Tumeur phyllode Tumor filodes Tumor filóide Tumore fillode hrdo:pat_id_18138 neant D24 180267 disease Adenofibroma gigante da mama Adénofibrome géant du sein Fibroadenoma gigante de mama Fibroadenoma gigante della mammella Giant adenofibroma of the breast Riesenfibroadenom der Brust hrdo:pat_id_1814 C537790 neant Q87.8 1834 C2931613 malformation syndrome Anomalie della blastogenesi Anomalies de la blastogenèse Anomalías de blastogénesis Blastogeneseanomalien Blastogenesis defect Blastogénese, defeito na Defeito na blastogénese Russell-Weaver-Bull syndrome Russell-Weaver-Bull, síndrome de Russell-Weaver-Bull-Syndrom Sindrome di Russell-Weaver-Bull Syndrome de Russell-Weaver-Bull Síndrome de Russell-Weaver-Bull Síndrome de Russell-Weaver-Bull Axial mesodermal dysplasia spectrum Displasia axial mesodérmica Displasia mesodermica assiale Displasia mesodérmica axial Dysplasie mésodermique axiale Dysplasie, axiale mesodermale hrdo:pat_id_18141 D010144 10033367 neant C50.0 180275 2985005 403946000 C0030185 C1704323 disease Doença de Paget do mamilo Enfermedad de Paget del pezón Maladie de Paget du mamelon Malattia di Paget del capezzolo Morbus Paget der Brustwarze Paget's disease of the nipple hrdo:pat_id_18143 neant D24 180284 disease Benign ductal tumor of breast Tumeur bénigne intracanalaire du sein Tumor benigno ductal de la mama Tumor der Brust, beninger duktaler Tumor ductal da mama, benigno Tumore duttale benigno della mammella hrdo:pat_id_18146 180303 group of phenomes Doença dos anexos uterinos, rara Enfermedad de los anexos uterinos rara no malformativa Maladie rare non malformative des annexes utérines Malattia annessiale uterina non malformativa rara Rare non-malformative uterine adnexal disease Seltene Krankheit des Uterus und der Adnexen, nicht-malformativ hrdo:pat_id_18149 180312 group of phenomes Tumeur rare des annexes de l'utérus Rare vulvovaginal tumor Seltener vulvovaginaler Tumor Tumeur vulvo-vaginale rare Tumor raro vulvovaginal Tumor vulvovaginal raro Tumore vulvovaginale raro hrdo:pat_id_1815 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 156232 613681 C535547 neant Q78.8 1836 C1835009 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia mesomelica di Kantaputra Displasia mesomelica, tipo Thai Displasia mesomélica de Kantaputra Displasia mesomélica de tipo Thai Dysplasie mésomélique de Kantaputra Dysplasie mésomélique type Thaï Kantaputra mesomelic dysplasia MDK MDK MDK MDK Mesomelic dysplasia, Thai type Displasia mesomelica, tipo Kantaputra Displasia mesomélica de tipo Kantaputra Displasia mesomélica, tipo Thai Dysplasie mésomélique type Kantaputra Dysplasie, mesomele, Typ Kantaputra Mesomelic dysplasia, Kantaputra type hrdo:pat_id_18155 180766 group of phenomes Fehlbildungssyndrom mit Dentinogenesis imperfecta Malformative syndrome with dentinogenesis imperfecta Malformative syndrome with dentinogenesis imperfecta Syndrome malformatif avec dentinogénèse imparfaite Síndrome malformativo com dentinogénese imperfeita Síndrome malformativo con dentinogénesis imperfecta hrdo:pat_id_18156 180772 group of phenomes Doença rara com autismo Enfermedad rara con autismo Maladie rare avec autisme Rare disease with autism Rare disease with autism Seltene Krankheit in Kombination mit Autismus hrdo:pat_id_18157 180776 group of phenomes Malformación torácica o diafragmática no sindrómica Malformation non-syndromique du diaphragme ou du thorax Malformação não sindrómica diafragmática ou torácica Nonsyndromic diaphragmatic or thoracic malformation Nonsyndromic diaphragmatic or thoracic malformation Zwerchfell- oder Thorax-Fehlbildung, nicht-syndromale hrdo:pat_id_18158 180779 group of phenomes Malformación torácica o diafragmática sindrómica Malformation syndromique du diaphragme ou du thorax Malformação sindrómica diafragmática ou torácica Syndromic diaphragmatic or thoracic malformation Syndromic diaphragmatic or thoracic malformation Zwerchfell- oder Thorax-Fehlbildung, syndromale hrdo:pat_id_1816 191420 C536935 neant Q78.5 1837 C1860615 disease Rosenberg-Lohr syndrome Rosenberg-Lohr, síndrome de Rosenberg-Lohr-Syndrom Sindrome di Rosenberg-Lohr Syndrome de Rosenberg-Löhr Síndrome de Rosenberg-Lohr Síndrome de Rosenberg-Lohr Displasia metafisaria cubital Displasia metafisaria-cubitale Dysplasie métaphysaire cubitale Síndrome de displasia metafisária cubital Ulna metaphyseal dysplasia syndrome Ulna-Dysplasie, metaphysäre hrdo:pat_id_18160 180821 group of phenomes Gastro-esophageal tumor Gastro-esophageal tumor Tumeur gastro-oesophagienne Tumor gastro-esofágico Tumor gastro-esofágico Tumor, gastro-oesophagealer hrdo:pat_id_18161 180824 group of phenomes Pancreatic tumor Pancreatic tumor Pankreastumor Tumeur pancréatique Tumor pancreático Tumor pancreático hrdo:pat_id_18169 neant E11 181368 group of phenomes Insulin-resistance syndrome Insulin-resistance syndrome Insulinresistenz-Syndrom Syndrome de résistance à l'insuline Síndrome de resistencia a la insulina Síndrome de resistência à insulina hrdo:pat_id_1817 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 250460 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Pyle%5Bti%5D+AND+Bone+Diseases%5Bmh%5D+OR+Metaphyseal+dysplasia%5Bti%5D+NOT+hypotrichosis Q78.5 1838 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown 'Hypoplasie ''cartilage-cheveux''-like sans hypotrichose' Cartilage-hair hypoplasia-like - skeletal dysplasia without hypotrichosis Cartilago-Haarhypoplasie-ähnliches Syndrom Displasia óssea hipoplasia cartilagem-cabelo like, sem hipotricose Hipoplasia cartilagem-cabelo like, sem hipotricose Hypoplasie "cartilage-cheveux" like sans hypotrichose Ipoplasia cartilagine-capelli-simile senza ipotricosi Knorpel-Haar-Hypoplasie ähnliche Skelettdysplasie ohne Hypotrichose Displasia metafisaria senza ipotricosi Displasia metafisaria sin hipotricosis Displasia metafisária sem hipotricose Dysplasie métaphysaire sans hypotrichose Dysplasie, metaphysäre, ohne Hypotrichose Metaphyseal dysplasia without hypotrichosis hrdo:pat_id_18170 neant E10 181371 group of phenomes Diabetes mellitus Typ 1, seltene Formen Diabetes mellitus tipo 1 rara Diabète sucré de type 1 rare Rare type 1 diabetes mellitus Diabetes mellitus insulino-dependente, raros Diabetes mellitus insulinodependiente rara Diabète insulinodépendant rare Insulinabhängiger Diabetes mellitus, seltene Formen Rare insulin-dependent diabetes mellitus Rare insulin-dependent diabetes mellitus hrdo:pat_id_18171 neant E11 181376 group of phenomes Diabetes mellitus Typ 2, seltene Formen Diabetes mellitus tipo 2 rara Diabète sucré de type 2 rare Rare type 2 diabetes mellitus Diabetes mellitus no insulinodependiente rara Diabetes mellitus não insulino-dependente, raros Diabète non insulinodépendant rare Insulinunabhängiger Diabetes mellitus, seltene Formen Rare insulin-independent diabetes mellitus Rare insulin-independent diabetes mellitus hrdo:pat_id_18172 neant E13 181381 group of phenomes Andere seltene Formen des Diabetes mellitus Autre forme rare de diabète sucré Diabetes mellitus de outros tipos, raros Other rare diabetes mellitus Other rare diabetes mellitus Otra forma rara de diabetes mellitus hrdo:pat_id_18173 181384 group of phenomes Doença rara hipotalámica ou pituitária Enfermedad hipofisaria o hipotalámica rara Hypothalamus- oder Hypophysenkrankheit, seltene Maladie hypophysaire ou hypothalamique rare Rare hypothalamic or pituitary disease Rare hypothalamic or pituitary disease hrdo:pat_id_18174 neant 181387 group of phenomes Syndrome avec hypogonadisme hypogonadotrope Syndrome mit hypogonadotropen Hypogonadismus Syndrome with hypogonadotropic hypogonadism Syndrome with hypogonadotropic hypogonadism Syndrome with hypogonadotropic hypogonadism Síndrome com hipogonadismo hipogonadotrópico hrdo:pat_id_18175 181390 group of phenomes Hipogonadismo hipogonadotrópico asociado con otras endocrinopatías Hipogonadismo hipogondatrópico associado a outras endocrinopatias Hypergonadotroper Hypogonadismus in Assoziation mit weiteren Endokrinopathien Hypogonadisme hypogonadotrope associé à d'autres endocrinopathies Hypogonadotropic hypogonadism associated with other endocrinopathies Hypogondatropic hypogonadism associated with other endocrinopathies hrdo:pat_id_18176 neant E34.3 181393 group of phenomes Bassa statura da difetto del recettore o del pathway post-recettoriale dell'ormone della crescita Estatura baja debido a un defecto en la vía del receptor o post-receptor de la hormona del crecimiento GHIS GHIS GHIS GHIS Kleinwuchs durch Wachstumshormonrezeptor-Defekt oder Störung im nachfolgenden Stoffwechselweg Petite taille par défaut du récepteur ou de la voie post-récepteur de l'hormone de croissance Short stature due to a defect in growth hormone receptor or post-receptor pathway Baixa estatura por defeito do recetor da hormona de crescimento ou na via pós-recetor Growth hormone insensitivity syndrome Sindrome da resistenza all'ormone della crescita Syndrom der Wachstumshormoninsensivität Syndrome d'insensibilité à l'hormone de croissance Síndrome de insensibilidad a la hormona del crecimiento hrdo:pat_id_18177 181396 group of phenomes Hipotiroidismo raro Hipotiroidismo raro Hypothyreose, seltene Hypothyroïdie rare Rare hypothyroidism Rare hypothyroidism hrdo:pat_id_18178 neant E05 181399 group of phenomes Hipertiroidismo raro Hipertiroidismo raro Hyperthyreose, seltene Hyperthyroïdie rare Rare hyperthyroidism Rare hyperthyroidism hrdo:pat_id_18179 neant 181402 group of phenomes Syndrom mit Hypoparathyroidismus Syndrome avec hypoparathyroïdie Syndrome with hypoparathyroidism Syndrome with hypoparathyroidism Síndrome com hipoparatiroidismo Síndrome con hipoparatiroidismo hrdo:pat_id_1818 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 158310 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=mucoepithelial+dysplasia%5Btw%5D 1839 403442005 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Sindrome di Urban-Schosser-Spohn Syndrome d'Urban-Schosser-Spohn Síndrome de Urban-Schosser-Spohn Síndrome de Urban-Schosser-Spohn Urban-Schosser-Spohn syndrome Urban-Schosser-Spohn, síndrome de Urban-Schosser-Spohn-Syndrom Displasia muco-epitelial Displasia mucoepitelial hereditaria Displasia mucoepiteliale ereditaria Dysplasie mucoépithéliale héréditaire Dysplasie, mukoepitheliale hereditäre Hereditary mucoepithelial dysplasia hrdo:pat_id_18180 neant E20 181405 group of phenomes Hipoparatiroidismo raro Hipoparatiroidismo raro Hypoparathyroidismus, seltener Hypoparathyroïdie rare Rare hypoparathyroidism Rare hypoparathyroidism hrdo:pat_id_18181 neant E21 181408 group of phenomes Hiperparatiroidismo raro Hiperparatiroidismo raro Hyperparathyroidismus, seltener Hyperparathyroïdie rare Rare hyperparathyroidism Rare hyperparathyroidism hrdo:pat_id_18182 D047808 10061630 neant E25 181412 190511001 267395000 271077003 C0302280 C0701163 group of phenomes Adrenogenital syndrome Adrenogenital syndrome Adrenogenitales Syndrom Syndrome adrenogenital Síndrome adrenogenital Síndrome adrenogenital hrdo:pat_id_18183 neant E26 181415 group of phenomes Aldosteronismo primario raro Aldosteronismo primitivo raro Aldosteronismus, primärer, seltener Aldostéronisme primitif rare Rare primary aldosteronism Hiperaldosteronismo primario raro Hiperaldosteronismo raro Hyperaldosteronismus, primärer, seltener Hyperaldostéronisme primitif rare Iperaldosteronismo primitivo raro Rare primary hyperaldosteronism hrdo:pat_id_18184 neant E27.4 181419 group of phenomes Hipoaldosteronismo raro Hipoaldosteronismo raro Hypoaldosteronismus, seltener Hypoaldostéronisme rare Rare hypoaldosteronism Rare hypoaldosteronism hrdo:pat_id_18185 neant E78 181422 group of phenomes Hiperlipidemia rara Hiperlipidemia rara Hyperlipidämie, seltene Hyperlipidémie rare Rare hyperlipidemia Rare hyperlipidemia hrdo:pat_id_18186 Variabel Variabile Variable Variable Variable Variable Variável neant E78.1 181425 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hipertrigliceridemia major Hipertrigliceridemia mayor Hypertriglyceridämie, Major-Form Hypertriglycéridémie majeure Major hypertriglyceridemia Major hypertriglyceridemia hrdo:pat_id_18187 neant E78.4 181428 238080004 C0342883 group of phenomes Hiperalfalipoproteinemia Hiperalfalipoproteinemia Hyperalphalipoproteinemia Hyperalphalipoproteinemia Hyperalphalipoproteinämie Hyperalphalipoprotéinémie hrdo:pat_id_18188 neant E78.6 181431 group of phenomes Hipolipidemia rara Hipolipidemia rara Rare hypolipidemia Rare hypolipidemia Rare hypolipidémie Seltene Hypolipidämie hrdo:pat_id_18190 181437 group of phenomes Dislipidemia sindrómica rara Dislipidemia sindrómica rara Dyslipidämie, seltene syndromale Dyslipidémie syndromique rare Rare syndromic dyslipidemia Rare syndromic dyslipidemia hrdo:pat_id_18191 181441 group of phenomes Hipogonadismo no hipogonadotrópico Hipogonadismo não-hipogonadotrópico Hypogonadisme non hypogonadotrophique Hypogonadismus, nicht-hypergonadotroper Non-hypogonadotropic hypogonadism Non-hypogonadotropic hypogonadism hrdo:pat_id_18195 neant D61 182040 group of phenomes Aplasia medular Aplasia medular Aplasie médullaire Aplasie, medulläre Medullar aplasia Medullar aplasia hrdo:pat_id_18196 182043 group of phenomes Anemia hemolítica constitucional rara Anemia hemolítica constitucional rara Anémie hémolytique constitutionnelle rare Hämolytische Anämie, konstitutionelle, seltene Rare constitutional hemolytic anemia Rare constitutional hemolytic anemia hrdo:pat_id_18197 neant D59 182047 group of phenomes Anemia hemolítica adquirida rara Anemia hemolítica adquirida rara Anémie hémolytique acquise rare Hämolytische Anämie, erworbene, seltene Rare acquired hemolytic anemia Rare acquired hemolytic anemia hrdo:pat_id_18198 600208 neant D69.4 182050 disease MYH9-related thrombocytopenia MYH9-related thrombocytopenia Macrothrombocytopénie liée à MYH9 Thrombozytopenie durch MYH9-Genmutation Trombocitopenia ligada a MYH9 Trombocitopenia relacionada com MYH9 hrdo:pat_id_18199 182054 group of phenomes Doença trombótica de origem hematológica rara Enfermedad trombótica rara de origen hematológico Rare thrombotic disease of hematologic origin Rare thrombotic disease of hematologic origin Syndrome thrombotique rare d'origine hématologique Thrombotische Krankheit hämatologischen Ursprungs, seltene hrdo:pat_id_182 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 551500 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=NARP+syndr*%5Bti%5D+OR+%28neurogeni*%5Btw%5D+OR+muscular+atrop*%5Ball%5D+OR+muscular+weakn*%5Btw%5D%29+ataxia%5Ball%5D+retinitis+pigment*%5Ball%5D G31.8 644 Herencia mitocondrial Hérédité mitochondriale Mitochondrial inheritance Mitochondrial inheritance Mitochondriale Vererbung Modo de hereditariedade mitocondrial Trasmissione mitocondriale disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Ataxia, neuropatia e retinite pigmentosa Leigh mitocondrial, síndrome de MILS, síndrome Neurogenic muscle weakness - ataxia - retinitis pigmentosa Neuropathie - Ataxie - Retinitis pigmentosa Neuropathie - ataxie - rétinite pigmentaire Neuropathy - ataxia - retinitis pigmentosa Neuropatia - atassia - retinite pigmentosa Neuropatía - ataxia - retinosis pigmentaria Síndrome MILS Síndrome MILS Síndrome de Leigh mitocondrial NARP syndrome NARP-Syndrom Sindrome NARP Syndrome NARP Síndrome NARP Síndrome NARP hrdo:pat_id_18200 182058 group of phenomes Hipotensión ortostática primaria Hipotensão ortostática primária Hypotension orthostatique primaire Primary orthostatic hypotension Primary orthostatic hypotension Primäre orthostatische Hypotension hrdo:pat_id_18201 neant 182061 group of phenomes Cerebellar malformation Cerebellar malformation Malformación del cerebelo Malformation cérébelleuse Malformação cerebelar Zerebelläre Fehlbildung hrdo:pat_id_18202 182064 group of phenomes Doença neuroinflamatória ou neuroimunológica rara Enfermedad neuroinmunológica o neuroinflamatoria rara Maladie neuroinflammatoire ou neuroimmunologique rare Rare neuroinflammatory or neuroimmunological disease Rare neuroinflammatory or neuroimmunological disease Seltene neuroinflammatorische oder neuroimmunologische Krankheit hrdo:pat_id_18203 137800 607248 613029 613030 613031 613032 613033 D005910 10018338 neant 182067 115240006 393564001 C0017638 group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Glioma Glioma Glioma Gliome Glial tumor Gliom Glioma Tumeur gliale Tumor glial Tumore gliale hrdo:pat_id_18204 182070 group of phenomes Doença neurodegenerativa rara Enfermedad neurodegenerativa rara Maladie neurodégénérative rare Rare neurodegenerative disease Rare neurodegenerative disease Seltene neurodegenerative Krankheit hrdo:pat_id_18205 182073 group of phenomes Doença neurometabólica sindrómica com atraso mental não ligado ao X Enfermedad neurometabólica sindrómica con déficit intelectual no ligado a X Maladie neurométabolique syndromique avec déficit intellectuel non lié à l'X Syndromale neurometabolische Krankheit mit nicht X-chromosomaler geistiger Retardierung Syndromic neurometabolic disease with non-X-linked intellectual deficit Syndromic neurometabolic disease with non-X-linked intellectual deficit hrdo:pat_id_18206 182076 group of phenomes Doença neurometabólica sindrómica com atraso mental ligado ao X Enfermedad neurometabólica sindrómica con déficit intelectual ligado a X Maladie neurométabolique syndromique avec déficit intellectuel lié à l'X Syndromale neurometabolische Krankheit mit X-chromosomaler geistiger Retardierung Syndromic neurometabolic disease with X-linked intellectual deficit Syndromic neurometabolic disease with X-linked intellectual deficit hrdo:pat_id_18207 182079 group of phenomes ARX-related epileptic encephalopathy ARX-related epileptic encephalopathy Encefalopatia epiléptica relacionada com ARX Encefalopatía epiléptica ligada a ARX Encéphalopathie épileptique liée à ARX Enzephalopathie, epileptische, ARX-Gen-assoziierte hrdo:pat_id_18208 182083 group of phenomes Canalopathie avec épilepsie Canalopatia com epilepsia Canalopatía con epilepsia Channelopathy with epilepsy Channelopathy with epilepsy Ionenkanalkrankheit mit Epilepsie hrdo:pat_id_18209 182086 group of phenomes Acquired peripheral neuropathy Acquired peripheral neuropathy Erworbene periphere Neuropathie Neuropathie périphérique acquise Neuropatia periférica adquirida Neuropatía periférica adquirida hrdo:pat_id_1821 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 211120 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=diastrophic+dysplasia%5Bti%5D+lethal%5Bti%5D Q77.8 1842 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia ossea letale, tipo Holmgren-Forsell Displasia ósea letal tipo Holmgren Forsell Displasia óssea letal, tipo Holmgren Dysplasie osseuse létale type Holmgren-Forsell Knochendysplasie, letale, Typ Holmgren-Forsell Lethal bone dysplasia, Holmgren type hrdo:pat_id_18210 Variabel Variabile Variable Variable Variable Variable Variável C536282 10064911 182090 26174007 C0152171 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 HAP PAH PAH PAH Hipertensión arterial pulmonar Hipertensão arterial pulmonar Hypertension artérielle pulmonaire Hypertension, arterielle pulmonale Ipertensione arteriosa polmonare Pulmonary arterial hypertension hrdo:pat_id_18211 D017563 10022611 182095 233703007 C0206062 group of phenomes EPI ILD ILD ILD ILD ILD Enfermedad pulmonar intersticial Interstitial lung disease Interstitielle Lungenkrankheit Pneumopathie interstitielle Pneumopatia interstiziale Pulmonar intersticial, doença hrdo:pat_id_18212 D011009 10035653 182098 40122008 C0032273 group of phenomes Neumoconiosis Pneumoconiose Pneumoconiose Pneumoconiosis Pneumoconiosis Pneumokoniose hrdo:pat_id_18213 neant J82 182101 group of phenomes Idiopathic eosinophilic pneumonia Neumonía eosinofílica idiopática Pneumonia esinofílica Pneumonie à éosinophiles idiopathique Pneumonie, eosinophile idiopathische Polmonite eosinofila idiopatica hrdo:pat_id_18214 182104 group of phenomes EPI secundaria de la infancia y la edad adulta asociada a enfermedad del tejido conectivo ILD secondaire de l'enfant et de l'adulte associé à une maladie du tissu conjonctif ILD secondaria dell'infanzia e dell'età adulta associata a malattia del tessuto connettivo Secondary ILD in childhood and adulthood associated with a connective tissue disease Doença do tecido conjuntivo com envolvimento respiratório Enfermedad pulmonar intersticial secundaria de la infancia y la edad adulta asociada a enfermedad del tejido conectivo Pneumopathie interstitielle secondaire de l'enfant et de l'adulte associé à une maladie du tissu conjonctif Pneumopatia interstiziale secondaria dell'infanzia e dell'età adulta associata a malattia del tessuto connettivo Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease Sekundäre interstitielle Lungenkrankheit im Kindes- und Erwachsenenalter mit assoziierter Bindegewebsstörung hrdo:pat_id_18215 182108 group of phenomes Malformación torácica Malformation thoracique Malformação torácica Thoracic malformation Thoracic malformation Thoraxfehlbildung hrdo:pat_id_18216 182111 group of phenomes Fehlbildung des Respiratorischen System Malformación respiratoria Malformation respiratoire Malformação respiratória Respiratory malformation Respiratory malformation hrdo:pat_id_18217 182114 group of phenomes Rare urogenital tumor Rare urogenital tumor Tumeur urogénitale rare Tumor urogenital raro Tumor urogenital raro Urogenitaler Tumor, seltener hrdo:pat_id_18218 182117 group of phenomes Malformación no sindrómica del tracto urogenital femenino Malformation uro-génitale non syndromique de la femme Malformação do trato genito-urinário feminino, não sindrómica Nonsyndromic urogenital tract malformation of female Nonsyndromic urogenital tract malformation of female Urogenitale Fehlbildungen, weibliche, nichtsyndromale Formen hrdo:pat_id_18219 182121 group of phenomes Malformación no sindrómica del tracto urogenital masculino Malformation uro-génitale non syndromique de l'homme Malformação do trato genito-urinário masculino, não sindrómica Nonsyndromic urogenital tract malformation of male Nonsyndromic urogenital tract malformation of male Urogenitale Fehlbildungen, männliche, nichtsyndromale Formen hrdo:pat_id_18220 182124 group of phenomes Malformación no sindrómica del tracto urogenital masculino y femenino Malformation uro-génitale non syndromique de l'homme et de la femme Malformação do trato genito-urinário masculino e feminino, não sindrómica Nonsyndromic urogenital tract malformation of male and female Nonsyndromic urogenital tract malformation of male and female Urogenitale Fehlbildungen, weibliche und männliche, nichtsyndromale Formen hrdo:pat_id_18221 D018237 10018207 182127 28307001 C0206660 group of phenomes Germinom Germinoma Germinoma Germinoma Germinoma Germinome hrdo:pat_id_18222 182130 group of phenomes Tumeur des glandes endocrines Tumor de glândulas endócrinas Tumor de las glándulas endocrinas Tumor der endokrinen Drüsen Tumor of endocrine glands Tumor of endocrine glands hrdo:pat_id_18223 182214 group of phenomes Doença ocular inflamatória rara Enfermedad ocular inflamatoria rara Maladie inflammatoire de l'oeil rare Rare inflammatory eye disease Rare inflammatory eye disease Seltene inflammatorische Augenkrankheit hrdo:pat_id_18224 182222 group of phenomes Doença sistémica rara Enfermedad rara sistémica Maladie systémique rare Rare systemic disease Rare systemic disease Seltene systemische Krankheit hrdo:pat_id_18225 182228 group of phenomes Autoimmune Krankheit, systemische Doença autoimune sistémica Enfermedad autoinmune sistémica Maladie systémique auto-immune Systemic autoimmune disease Systemic autoimmune disease hrdo:pat_id_18226 182231 group of phenomes Doença reumatológica rara Maladie rhumatologique rare Rare rheumatologic disease Rare rheumatologic disease Rare rheumatologic disease Rheumatologische Krankheit, seltene hrdo:pat_id_18229 182734 group of phenomes Genetic urticaria Genetic urticaria Urticaria de origen genético Urticária genética Urtikaria, genetisch bedingte urticaire d'origine génétique hrdo:pat_id_18230 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 183422 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Polymalformative genetic syndrome with increased risk of develop cancer Polymalformative genetic syndrome with increased risk of developing cancer Polymalformatives genetisches Syndrom mit erhöhter Krebsanfälligkeit Syndrome polymalformatif génétique à risque de développer un cancer Síndrome genético polimalformativo com risco aumentado de desenvolvimento de neoplasias Síndrome polimalformativo genético con riesgo de desarrollar un cáncer hrdo:pat_id_18231 183426 group of phenomes Doença epidérmica genética Enfermedad genética de la epidermis Genetic epidermal disease Genetic epidermal disease Hautkrankheit, genetisch bedingte Maladie génétique de l'épiderme hrdo:pat_id_18232 183435 group of phenomes Genetic ichthyosis Ichthyose, genetisch bedingte Ichtyose génétique Ictiosis genética Ittiosi genetica Ichthyose, hereditäre Ichtyose héréditaire Ictiose genética Ictiosis hereditaria Inherited ichthyosis Ittiosi ereditaria hrdo:pat_id_18233 183438 group of phenomes Eritroqueratodermia genética Eritroqueratodermia genética Erythrokeratodermie, genetisch bedingte Erythrokératodermie génétique Genetic erythrokeratoderma Genetic erythrokeratoderma hrdo:pat_id_18234 183441 group of phenomes Acrokératodermie génétique Acroqueratodermia genética Acroqueratodermia genética Akrokeratodermie, genetisch bedingte Genetic acrokeratoderma Genetic acrokeratoderma hrdo:pat_id_18235 183444 group of phenomes Genetic porokeratosis Genetic porokeratosis Porokeratose, genetisch bedingte Porokératose génétique Poroqueratose genética Poroqueratosis genética hrdo:pat_id_18236 183447 group of phenomes Anomalia genética dos apêndices epidérmicos Anomalie génétique des phanères Anomalien der Hautanhangsgebilde, genetisch bedingte Anomalía genética de los apéndices epidérmicos Genetic epidermal appendage anomaly Genetic epidermal appendage anomaly hrdo:pat_id_18237 183450 group of phenomes Anomalia genética dos pelos Anomalie génétique des cheveux Anomalía genética del pelo Genetic hair anomaly Genetic hair anomaly Haaranomalie, genetisch bedingte hrdo:pat_id_18238 183454 group of phenomes Anomalia genética das unhas Anomalie génétique des ongles Anomalía genética de las uñas Genetic nail anomaly Genetic nail anomaly Nagelanomalie, genetisch bedingte hrdo:pat_id_18240 183460 group of phenomes Anomalia genética das glândulas sebáceas Anomalie génétique des glandes sébacées Anomalía genética de las glándulas sebáceas Genetic sebaceus gland anomaly Genetic sebaceus gland anomaly Talgdrüsenanomalie, genetisch bedingte hrdo:pat_id_18241 183463 group of phenomes Anomalia genética da pigmentação da pele Anomalie génétique de la pigmentation cutanée Anomalía genética en la pigmentación de la piel Genetic pigmentation anomaly of the skin Genetic pigmentation anomaly of the skin Pigmentanomalien der Haut, genetisch bedingte hrdo:pat_id_18242 183466 group of phenomes Genetic hyperpigmentation of the skin Genetic hyperpigmentation of the skin Hiperpigmentación genética de la piel Hiperpigmentação da pele, genética Hyperpigmentation cutanée génétique Hyperpigmentierung der Haut, genetisch bedingte hrdo:pat_id_18243 183469 group of phenomes Genetic hypopigmentation of the skin Genetic hypopigmentation of the skin Hipopigmentación genética de la piel Hipopigmentação da pele, genética Hypopigmentation cutanée génétique Hypopigmentierung der Haut, genetisch bedingte hrdo:pat_id_18244 183472 group of phenomes Anomalie génétique du derme Doença genética da derme Genetic dermis disorder Genetic dermis disorder Hautkrankheit, genetisch bedingte Trastorno genético de la dermis hrdo:pat_id_18246 183478 group of phenomes Anomalie vasculaire cutanée génétique Doença dermatológica vascular, genética Enfermedad vascular cutánea genética Genetic skin vascular disease Genetic skin vascular disease Hautkrankheit, vaskuläre, genetisch bedingte hrdo:pat_id_18247 183481 group of phenomes Anomalie génétique mixte du derme Dermale Krankheit, gemischte, genetisch bedingte Doença genética mista da derme Genetic mixed dermis disorder Genetic mixed dermis disorder Trastorno genético mixto de la dermis hrdo:pat_id_18248 183484 group of phenomes Doença genética do tecido subcutâneo Enfermedad genética del tejido subcutáneo Genetic subcutaneous tissue disease Genetic subcutaneous tissue disease Gewebekrankheit, subkutane, genetisch bedingte Maladie génétique du tissu sous-cutané hrdo:pat_id_18249 183487 group of phenomes Genetic skin tumor Genetic skin tumor Hauttumor, genetisch bedingter Tumeur génétique de la peau Tumor de la piel de origen genético Tumor dermatológico genético hrdo:pat_id_1825 neant Q87.8 1850 malformation syndrome Selig-Benacerraf-Greene syndrome Selig-Benacerraf-Greene, síndrome de Selig-Benacerraf-Greene-Syndrom Sindrome di Selig-Benacerraf-Greene Syndrome de Selig-Benacerraf-Greene Síndrome de Selig-Benacerraf-Greene Síndrome de Selig-Benacerraf-Greene Displasia renal - megacistis - sirenomelia Displasia renal - megacistis - sirenomelia Displasia renale - megalocisti - sirenomelia Dysplasie rénale - mégavessie - sirénomelie Nierendysplasie - Megazystis - Sirenomelie Renal dysplasia - megalocystis - sirenomelia hrdo:pat_id_18250 183490 group of phenomes Fotogenodermatosi Fotogenodermatosis Fotosensibilidad cutánea genética Fotosensibilità cutanea genetica Genetic skin photosensitivity Photogenodermatose Photogenodermatosis Photogénodermatose Photosensibilité cutanée génétique Photosensitivität der Haut, genetisch bedingte Fotodermatosi genetica Fotodermatosis genética Fotossensibilidade da pele genética Genetic photodermatosis Photodermatose génétique Photodermatose, genetische hrdo:pat_id_18251 183494 group of phenomes Deficiência imune genética com envolvimento dermatológico Genetic immune deficiency with skin involvement Genetic immune deficiency with skin involvement Immundefekt mit Hautbeteiligung, genetisch bedingt Immunodéficience génétique avec atteinte cutanée Inmunodeficiencia genética con afectación cutánea hrdo:pat_id_18252 183497 group of phenomes Doença neuromuscular genética Enfermedad neuromuscular genética Genetic neuromuscular disease Genetic neuromuscular disease Maladie neuromusculaire génétique Neuromuskuläre Krankheit, genetisch bedingte hrdo:pat_id_18253 183500 group of phenomes Doença neurodegenerativa genética Enfermedad neurodegenerativa genética Genetic neurodegenerative disease Genetic neurodegenerative disease Maladie neurodégénérative génétique Neurodegenerative Krankheit, genetisch bedingte hrdo:pat_id_18254 183503 group of phenomes Doença genética do sistema nervoso central e vascular retiniana Enfermedad vascular del sistema nervioso central y de la retina de origen genético. Genetic central nervous system and retinal vascular disease Genetic central nervous system and retinal vascular disease Maladie vasculaire du système nerveux central et de la rétine de cause génétique ZNS-Fehlbildung und vaskuläre Netzhautkrankheit, genetisch bedingt hrdo:pat_id_18255 183506 group of phenomes Genetic central nervous system malformation Genetic central nervous system malformation Malformación genética del sistema nervioso central Malformation du système nerveux central d'origine génétique Malformação do sistema nervoso central, genético ZNS-Fehlbildung, genetisch bedingte hrdo:pat_id_18256 183509 group of phenomes Cefalea genética rara Céphalée rare de cause génétique Enxaqueca genética rara Kopfschmerzen, genetisch bedingte, seltene Rare genetic headache Rare genetic headache hrdo:pat_id_18257 183512 group of phenomes Epilepsia genética rara Epilepsia genética rara Epilepsie rare de cause génétique Epilepsie, genetisch bedingte, seltene Rare genetic epilepsy Rare genetic epilepsy hrdo:pat_id_18258 183515 group of phenomes Doença medular genética rara Enfermedad genética rara de la médula espinal Maladie génétique de la moëlle épinière Medulläre Krankheit, genetisch bedingte, seltene Rare genetic medullar disease Rare genetic medullar disease hrdo:pat_id_18259 183518 group of phenomes Atassia ereditaria rara Ataxia genética rara Ataxia hereditaria rara Ataxie héréditaire rare Ataxie, hereditäre, seltene Rare hereditary ataxia hrdo:pat_id_1826 312550 Q14.1 1852 disease Displasia da retina ligada ao X Displasia retiniana ligada a X Displasia retinica legata all'X Dysplasie rétinienne liée à l'X Retinadysplasie, X-chromosomale Retinopatia ligada ao X X-linked retinal dysplasia hrdo:pat_id_18260 183521 group of phenomes Anomalie du mouvement rare de cause génétique Bewegungsstörung, genetisch bedingte, seltene Doença do movimento, genética, raro Rare genetic movement disorder Rare genetic movement disorder Trastorno raro del movimiento de origen genético hrdo:pat_id_18261 183524 group of phenomes Doença óssea genética rara Enfermedad ósea rara de origen genético Knochenkrankheit, genetisch bedingte, seltene Maladie osseuse rare d'origine génétique Rare genetic bone disease Rare genetic bone disease hrdo:pat_id_18262 183527 group of phenomes Genetic bone tumor Knochentumor, genetisch bedingter, seltener Rare genetic bone tumor Tumeur osseuse d'origine génétique Tumor óseo raro de origen genético Tumor ósseo genético rara hrdo:pat_id_18263 183530 group of phenomes Anomalia do desenvolvimento durante a embriogénese, genética, rara Anomalie rare du développement embryonnaire d'origine génétique Defecto raro del desarrollo embrionario de origen genético Rare developmental defect during embryogenesis of genetic origin Rare genetic developmental defect during embryogenesis Seltener Entwicklungsdefekt während der Embryogenese, genetisch bedingt hrdo:pat_id_18264 183533 group of phenomes Anomalias congénitas múltiplas, genéticas/síndrome dismórfico Anomalies congénitales multiples/syndrome dysmorphique d'origine génétique Anomalías congénitas múltiples/síndrome dismórfico de origen genético Genetic multiple congenital anomalies/dysmorphic syndrome Genetic multiple congenital anomalies/dysmorphic syndrome Multiple kongenitale Anomalien/Dysmorphie-Syndrom, genetisch bedingt hrdo:pat_id_18265 183536 group of phenomes Anomalie congénitale des membres d'origine génétique Extremitätenfehlbildung, kongenitale, genetisch bedingte Genetic congenital limb malformation Genetic congenital limb malformation Malformación congénita de las extremidades de origen genético Malformação genética congénita dos membros hrdo:pat_id_18266 183539 group of phenomes Genetic renal or urinary tract malformation Genetic renal or urinary tract malformation Malformación renal o de las vías urinarias de origen genético Malformation rénale ou des voies urinaires de cause génétique Malformação genética renal ou do trato urinário Nieren/Harnwegsfehlbildung, genetisch bedingte hrdo:pat_id_18267 183542 group of phenomes Fehlbildung, kraniale, genetisch bedingte Genetic cranial malformation Genetic cranial malformation Malformación craneal de origen genético Malformation crânienne d'origine génétique Malformação genética do crânio hrdo:pat_id_18268 183545 group of phenomes Fehlbildung des Verdauungstrakts, genetisch bedingte Genetic digestive tract malformation Genetic digestive tract malformation Malformación del tubo digestivo de origen genético Malformation du tube digestif d'origine génétique Malformação genética do trato digestivo hrdo:pat_id_18269 183548 group of phenomes Genetic visceral malformation of the liver, biliary tract, pancreas or spleen Genetic visceral malformation of the liver, biliary tract, pancreas or spleen Malformación visceral de hígado, vías biliares, páncreas o bazo de origen genético Malformation viscérale du foie, des voies biliaires, du pancréas ou de la rate d'origine génétique Malformação genética visceral do fígado, trato biliar, pâncreas ou baço Viszerale Fehlbildung der Leber, Gallengänge, Pankreas, Milz, genetisch bedingt hrdo:pat_id_18271 183554 group of phenomes Atemwegs- oder Mediastinum-Fehlbildung, genetisch bedingte Genetic respiratory or mediastinal malformation Genetic respiratory or mediastinal malformation Malformación respiratoria o del mediastino de origen genético Malformation respiratoire et du médiastin d'origine génétique Malformação genética respiratória ou do mediastino hrdo:pat_id_18272 183557 group of phenomes Anomalia do desenvolvimento ocular, genética Anomalie du développement de l'œil d'origine génétique Entwicklungsstörung der Augen, genetisch bedingte Genetic developmental defect of the eye Genetic developmental defect of the eye Trastorno de origen genético en el desarrollo de los ojos hrdo:pat_id_18274 183570 group of phenomes Fehlbildungs-Syndrom mit Kleinwuchs, genetisch bedingt Genetic malformation syndrome with short stature Genetic malformation syndrome with short stature Syndrome malformatif avec petite taille Síndrome de malformação genética com baixa estatura Síndrome genético malformativo con baja estatura hrdo:pat_id_18275 183573 group of phenomes Genetic overgrowth/obesity syndrome Genetic overgrowth/obesity syndrome Großwuchssyndrom/Adipositas-Syndrom, genetisch bedingt Syndrome de croissance excessive ou d'obésité d'origine génétique Síndrome de sobrecrecimiento/obesidad de origen genético Síndrome de sobrecrescimento/obesidade genética hrdo:pat_id_18276 183576 group of phenomes Genetic branchial arch or oral-acral syndrome Genetic branchial arch or oral-acral syndrome Kiemenbogen- oder oroakrales-Syndrom, genetisch bedingt Syndrome des archs branchiaux ou syndrome oro-acral d'origine génétique Síndrome genético dos arcos branquiais ou orais-acrais Síndrome oral-acro o del arco branquial de origen genético hrdo:pat_id_18277 183580 group of phenomes Dysmorphie-Syndrom mit odontaler und/oder periodontaler Komponente, genetisch bedingt Genetic malformation syndrome with odontal and/or periodontal component Genetic malformation syndrome with odontal and/or periodontal component Syndrome malformatif avec composante odontique et/ou péri-odontique d'origine génétique Síndrome de malformação genética com componente odontológico e/ou periodontológico Síndrome genético malformativo con componente dental y/o periodontal hrdo:pat_id_18278 183583 group of phenomes Genetic head and neck malformation Genetic head and neck malformation Kopf- und Nackenfehlbildung, genetisch bedingte Malformación de cuello y cabeza de origen genético Malformation de la tête et du cou d'origine génétique Malformação genética da cabeça e pescoço hrdo:pat_id_18279 183586 group of phenomes Doença glomerular genética Enfermedad glomerular de origen genético Genetic glomerular disease Genetic glomerular disease Glomerulopathie, genetisch bedingte Néphropathie glomérulaire génétique hrdo:pat_id_18280 183589 group of phenomes Genetic thrombotic microangiopathy Genetic thrombotic microangiopathy Genetic thrombotic microangiopathy Microangiopathie thrombotique génétique Microangiopatia trombótica genética Mikroangiopathie, thrombotische, genetisch bedingte hrdo:pat_id_18281 183592 group of phenomes Doença renal tubular, genética Genetic renal tubular disease Genetic renal tubular disease Nefropatía tubular de origen genético Néphropathie tubulaire génétique Renal-tubuläre Störung, genetisch bedingte hrdo:pat_id_18282 183595 group of phenomes Genetic renal tumor Genetic renal tumor Genetic renal tumor Nierentumor, genetisch bedingter Tumeur rénale génétique Tumor renal, genético hrdo:pat_id_18283 183598 group of phenomes Doença palpebral, do sistema lacrimal e conjuntiva, genética rara Enfermedad de los párpados, del sistema lagrimal y de la conjuntiva de origen genético Maladie génétique de la paupière, de l'appareil lacrymal et de la conjonctive Rare genetic palpebral, lacrimal system and conjunctival disease Rare genetic palpebral, lacrymal system and conjunctival disease Seltene Krankheiten des palpebralen, lakrimalen und konjunktivalen Systems, genetisch bedingt hrdo:pat_id_18284 183601 group of phenomes Anomalia de refração genética rara Anomalie génétique rare de la réfraction Anomalía genética rara de refracción Rare genetic refraction anomaly Rare genetic refraction anomaly Refraktionsanomalie, genetisch bedingte, seltene hrdo:pat_id_18285 183604 group of phenomes Glaucoma genético raro Glaucoma raro de origen genético Glaucome rare d'orgine génétique Glaukom, genetisch bedingtes, seltenes Rare genetic glaucoma Rare genetic glaucoma hrdo:pat_id_18286 183607 group of phenomes Anomalia genética do cristalino e zónula Anomalie génétique du cristallin et de la zonule Anomalía del cristalino y de la zónula de origen genético Genetic lens and zonula anomaly Genetic lens and zonula anomaly Linsen/Zonula-Anomalie, genetisch bedingte hrdo:pat_id_18289 183616 group of phenomes Doença neuro-oftalmológica genética Enfermedad neuro-oftalmológica de origen genético Genetic neuro-ophthalmological disease Genetic neuro-ophthalmological disease Maladie neuro-ophtalmologique génétique Neuro-ophthalmologische Krankheit, genetisch bedingte hrdo:pat_id_18290 183619 group of phenomes Augentumor, genetisch bedingter Genetic eye tumor Genetic eye tumor Tumeur génétique de l'oeil Tumor ocular de origen genético Tumor ocular genético hrdo:pat_id_18291 183622 group of phenomes Atemwegsfehlbildung, genetisch bedingte Genetic respiratory malformation Genetic respiratory malformation Malformación genética del aparato respiratorio Malformation de l'appareil respiratorire d'origine génétique Malformação respiratória genética hrdo:pat_id_18292 183625 group of phenomes Diabetes mellitus genéticos raros Diabetes mellitus rara de origen genético Diabetes mellitus, genetisch bedingter, seltener Diabète sucré d'origine génétique Rare genetic diabetes mellitus Rare genetic diabetes mellitus hrdo:pat_id_18293 183628 group of phenomes Doença genética hipotalámica ou pituitária, rara Enfermedad hipofisaria o hipotalámica rara de origen genético Hypothalamus- oder Hypophysenkrankheit, genetisch bedingte, seltene Maladie hypophysaire ou hypothalamique rare d'origine génétique Rare genetic hypothalamic or pituitary disease Rare genetic hypothalamic or pituitary disease hrdo:pat_id_18294 183631 group of phenomes Doença da tiroide genética rara Enfermedad rara de la tiroides de origen genético Maladie rare de la thyroïde d'origine génétique Rare genetic thyroid disease Rare genetic thyroid disease Schilddrüsenkrankheit, genetisch bedingte, seltene hrdo:pat_id_18295 183634 group of phenomes Doença genética e rara da paratiroide e do metabolismo fosfo-cálcio Enfermedad rara de la paratiroides y trastorno del metabolismo fosfocálcico de origen genético Maladie parathyroïdienne rare et anomalie du métabolisme phosphocalcique d'origine génétique Nebenschilddrüsen- und Calcium/Phosphor-Stoffwechselkrankheiten, genetisch bedingte, seltene Rare genetic parathyroid disease and phosphocalcic metabolism disorder Rare genetic parathyroid disease and phosphocalcic metabolism disorder hrdo:pat_id_18296 183637 group of phenomes Doença suprarrenal genética rara Enfermedad adrenal rara de origen genético Maladie génétique rare des surrénales Nebennierenkrankheit, genetisch bedingte, seltene Rare genetic adrenal disease Rare genetic adrenal disease hrdo:pat_id_18298 183643 group of phenomes Genetic polyendocrinopathy Genetic polyendocrinopathy Poliendocrinopatia genética Poliendocrinopatía genética Polyendocrinopathie génétique Polyendokrinopathie, genetisch bedingte hrdo:pat_id_183 Variabel Variabile Variable Variable Variable Variable Variável 101000 D009464 D016518 10000523 10029271 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=neurofibromatosis+2%5Bmajr%5D Q85.0 637 126949007 92503002 C0027832 C0027859 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Akustikusneurinom Familial acoustic neurinoma Familial acoustic neuroma Familial vestibular schwannoma NF2 NF2 NF2 NF2 Neuinome de l'acoustique familial Neurinoma dell'acustico familiare Neurinoma do acústico Neurom, akustisches Neuroma familiare dell'acustico Neurome de l'acoustique familial Schwannom, vestibuläres Schwannoma vestibolare familiare Schwannome vestibulaire familial Neurofibromatose Typ 2 Neurofibromatose tipo 2 Neurofibromatose type 2 Neurofibromatosi, tipo 2 Neurofibromatosis tipo 2 Neurofibromatosis type 2 hrdo:pat_id_18301 183651 group of phenomes Anemia constitucional Anämie, konstitutionelle, seltene Anémie constitutionnelle rare Rare constitutional anemia Rare constitutional anemia Rare constitutional anemia hrdo:pat_id_18302 183654 group of phenomes Blutgerinnungsstörung, genetisch bedingte, seltene Coagulopathie génétique rare Coagulopatia genética rara Coagulopatía rara de origen genético Rare genetic coagulation disorder Rare genetic coagulation disorder hrdo:pat_id_18303 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance D016511 10069566 neant D81.0 D81.1 D81.2 D81.3 183660 31323000 C0085110 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown IDCS SCID SCID SCID SCID Immundefekt, kombinierter schwerer Immunodeficienza combinata grave Immunodéficience combinée sévère Imunodeficiência combinada grave Inmunodeficiencia combinada severa Severe combined immunodeficiency hrdo:pat_id_18304 308230 606843 neant D80.5 183663 disease HIGM avec susceptibilité aux infections opportunistes HIGM con sucettibilità alle infezioni opportunistiche HIGM con susceptibilidad a infecciones oportunistas HIGM mit opportunistischen Infektionen HIGM with susceptibility to opportunistic infections Hyper-IgM syndrome with susceptibility to opportunistic infections Hyper-IgM-Syndrom mit opportunistischen Infektionen Sindrome iper-IgM con suscettibilità alle infezioni opportunistiche Syndrome hyper-IgM avec susceptibilité aux infections opportunistes Síndrome de hiper IgM con susceptibilidad a infecciones oportunistas Síndrome hiper-IgM com infeções oportunísticas hrdo:pat_id_18305 605258 608106 608184 neant D80.5 183666 disease HIGM ohne opportunistischen Infektionen HIGM sans susceptibilité aux infections opportunistes HIGM senza suscettibilità alle infezioni opportunistiche HIGM sin susceptibilidad a infecciones oportunistas HIGM without susceptibility to opportunistic infections Hyper-IgM syndrome without susceptibility to opportunistic infections Hyper-IgM-Syndrom ohne opportunistischen Infektionen Sindrome iper-IgM senza suscettibilità alle infezioni opportunistiche Syndrome hyper-IgM sans susceptibilité aux infections opportunistes Síndrome de hiper IgM sin susceptibilidad a infecciones oportunistas Síndrome hiper-IgM sem infeções oportunísticas hrdo:pat_id_18306 D000361 183669 119249001 C0001768 group of phenomes 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Agamaglobulinemia Agammaglobulinemia Agammaglobulinemia Agammaglobulinemia Agammaglobulinämie Agammaglobulinémie hrdo:pat_id_18307 240500 613494 neant D83.8 183672 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo etiological subtype CVID da deficit di TNFR CVID due to TNFR deficiency CVID durch TNFR-Mangel CVID dû au déficit en TNFR CVID por déficit de TNFR Common variable immunodeficiency due to TNFR deficiency Déficit immunitaire commun variable dû au déficit en TNFR Hipogamaglobulinemia por deficiência de CD19 ou ICOS Immundefekt, kombinierter schwerer, durch TNFR-Mangel Immunodeficienza variabile comune da deficit di TNFR Inmunodeficiencia común variable por déficit de TNFR hrdo:pat_id_18308 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 614102 neant 183675 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficit della sottoclasse delle IgG associata a deficit della sottoclasse delle IgA Deficit delle catene kappa Deficit isolato della sottoclasse delle IgG Deficit selettivo della sottoclasse IgG Déficit de cadena Kappa Déficit de subclase de IgG aislado Déficit de subclase de IgG con déficit de subclase de IgA Déficit en chaîne kappa Déficit en sous-classe d'IgG avec déficit en sous-classe d'IgA Déficit isolé en sous-classe d'IgG Déficit selectivo de subclases de IgG Déficit sélectif en IgG IgG subclass deficiency with IgA subclass deficiency Isolated IgG subclass deficiency Kappa-chain deficiency Selective IgG subclass deficiency Infecciones recurrentes asociadas a un déficit raro de isotipos de inmunoglobulinas Infection recurrente associée à un déficit rare en isotype d'immunoglobuline Infezioni ricorrenti associate a deficit raro degli isotipi dell'immunoglobulina Infeções recorrentes associadas com isotipos de imunoglobulina Recurrent infections associated with rare immunoglobulin isotypes deficiency Rekurrente Infektionen mit assoziierten Immunoglobulin-Isotypen hrdo:pat_id_18309 608233 neant E70.3 183678 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 HPS2 HPS2 HPS2 HPS2 HPS2 Hermansky-Pudlak syndrome type 2 Hermansky-Pudlak-Syndrom Typ 2 SHP2 Sindrome di Hermansky-Pudlak, tipo 2 Syndrome d'Hermansky-Pudlak type 2 Síndrome de Hermansky-Pudlak tipo 2 Hermansky-Pudlak syndrome with neutropenia Hermansky-Pudlak-Syndrom mit Neutropenie Sindrome di Hermansky-Pudlak con neutropenia Syndrome d'Hermansky-Pudlak avec neutropénie Síndrome de Hermansky-Pudlak con neutropenia Síndrome de Hermansky-Pudlak tipo 2 hrdo:pat_id_1831 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Spondylometaphyseal%5Bti%5D Q77.8 254 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Displasia espondilo-metafisaria Displasia espondilo-metafisária Displasia spondilometafisaria Dysplasie spondylo-métaphysaire Dysplasie, spondylometaphysäre Spondylometaphyseal dysplasia hrdo:pat_id_18310 neant D71 183681 group of phenomes Defectos funcionales de los neutrófilos Difetto funzionale dei neutrofili Déficit fonctionnel des neutrophiles Functional neutrophil defect Infeções recorrentes graves com neutrofília Schwere rekurrente Infektionen mit neutrophiler Dysfunktion hrdo:pat_id_18311 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 608203 neant D71 183707 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Neutrophil immunodeficiency syndrome Neutrophiles Immundefekt-Syndrom Sindrome da immunodeficienza dei neutrofili Syndrome d'immunodéficience neutrophile Síndrome de imunodeficiência neutrofílica Síndrome de inmunodeficiencia de neutrófilos hrdo:pat_id_18312 neant D84.8 183710 group of phenomes Genetic susceptibility to infections due to particular pathogens Predisposición a infecciones bacterianas invasivas Predisposition to invasive bacterial infections Predisposição para infeções bacterianas invasivas Prädisposition für invasive Bakterieninfektionen Prédisposition génétique aux infections à pathogènes particuliers hrdo:pat_id_18313 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 612260 neant D84.8 183713 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficiencia de MyD88 Deficit di MyD88 Déficit de MyD88 Déficit en MyD88 Infecciones bacterianas piógenas por deficiencia de MyD88 MyD88 deficiency MyD88-Mangel Infecciones bacterianas piógenas por déficit de MyD88 Infections à bactéries pyogènes associées à un déficit en MyD88 Infezioni batteriche piogeniche da deficit di MyD88 Infeções bacterianas piogénicas por deficiência de MyD88 Pyogene Bakterieninfektion durch MyD88-Mangel Pyogenic bacterial infections due to MyD88 deficiency hrdo:pat_id_18314 183716 group of phenomes Autre syndrome complexe d'immunodéficience primaire Other complex syndrome of primary immunodeficiency Other complex syndrome of primary immunodeficiency Otro síndrome complejo de inmunodeficiencia primaria Outro síndrome complexo de imunodeficiência primária Sonstiges komplexes Syndrom mit primärem Immundefekt hrdo:pat_id_18315 183731 group of phenomes Doenças obstétricas e ginecológicas genéticas, raras Gynäkologische oder geburtshilfliche Krankheit, seltene, genetisch bedingte Maladies gynéco-obstétriques rares d'origine génétique Rare genetic gynecological and obstetrical diseases Rare genetic gynecological and obstetrical diseases Rare genetic gynecological and obstetrical diseases hrdo:pat_id_18316 183734 group of phenomes Genetic gynecological tumor Genetic gynecological tumor Gynäkologischer Tumor, genetisch bedingter Tumeur gynécologique génétique Tumor ginecológico de origen genético Tumor ginecológico genético hrdo:pat_id_18317 183744 group of phenomes Doença metabólica não-rara Maladie métabolique non rare Non-rare metabolic disease Non-rare metabolic disease Non-rare metabolic disease Stoffwechselkrankheit, nicht seltene hrdo:pat_id_18318 183748 group of phenomes Doença hepática não-rara Leberkrankheit, nicht seltene Maladie hépatologique non rare Non-rare hepatic disease Non-rare hepatic disease Non-rare hepatic disease hrdo:pat_id_18319 183752 group of phenomes Doença psiquiátrica não-rara Maladie psychiatrique non rare Non-rare psychiatric disease Non-rare psychiatric disease Non-rare psychiatric disease Psychiatrische Krankheit, nicht seltene hrdo:pat_id_18320 183757 group of phenomes Atraso mental, genético raro Déficit intelectual raro de origen genético Déficit intellectuel rare d'origine génétique Intelligenzminderung, genetisch bedingte, seltene Rare genetic intellectual deficiency Rare genetic intellectual deficit hrdo:pat_id_18322 183763 group of phenomes Atraso mental, genético raro, com anomalia do desenvolvimento Déficit intelectual raro de origen genético con anomalías en el desarrollo Déficit intellectuel rare d'origine génétique avec anomalie du développement Intelligenzminderung mit Entwicklungsanomalie, genetisch bedingt, selten Rare genetic intellectual deficiency with developmental anomaly Rare genetic intellectual deficit with developmental anomaly hrdo:pat_id_18323 183770 group of phenomes Enfermedad inmunológica rara de origen genético Immunkrankheit, genetisch bedingte, seltene Imune genética rara, doença Maladie immunologique rare d'origine génétique Rare genetic immune disease Rare genetic immune disease hrdo:pat_id_18324 183779 group of phenomes Doença cardíaca não-rara Herzkrankheit, nicht seltene Maladie cardiaque non rare Non-rare cardiac disease Non-rare cardiac disease Non-rare cardiac disease hrdo:pat_id_18325 183784 group of phenomes Doença do sistema circulatório não-rara Herz-Kreislaufsystemstörung, nicht seltene Maladie non rare du système circulatoire Non-rare circulatory system disease Non-rare circulatory system disease Non-rare circulatory system disease hrdo:pat_id_18326 183787 group of phenomes Doença gastro-enterológica não-rara Gastroenterologische Krankheit, nicht seltene Maladie gastroentérologique non rare Non-rare gastroenterologic disease Non-rare gastroenterologic disease Non-rare gastroenterologic disease hrdo:pat_id_18327 183790 group of phenomes Doença obstétrica e ginecológica não-rara Gynäkologische oder geburtshilfliche Krankheit, nicht seltene Maladie gynécologique et obstétrique non rare Non-rare gynecologic and obstetric disease Non-rare gynecologic and obstetric disease Non-rare gynecologic and obstetric disease hrdo:pat_id_18328 183794 group of phenomes Doença óssea não-rara Knochenkrankheit, nicht seltene Maladie osseuse non rare Non-rare bone disease Non-rare bone disease Non-rare bone disease hrdo:pat_id_18329 183797 group of phenomes Doença cirúrgica maxilo-facial não-rara Maladie non rare en chirurgie maxillo-faciale Maxillofaziale Anomalie, nicht seltene Non-rare maxillo-facial surgical disease Non-rare maxillo-facial surgical disease Non-rare maxillo-facial surgical disease hrdo:pat_id_18330 183800 group of phenomes Doença imune não-rara Immundefekt, nicht seltener Maladie immunologique non rare Non-rare immune disease Non-rare immune disease Non-rare immune disease hrdo:pat_id_18331 183804 group of phenomes Doença de infertilidade não-rara Infertilität, nicht seltene Form Infertilité non rare Non-rare infertility disease Non-rare infertility disease Non-rare infertility disease hrdo:pat_id_18332 183807 group of phenomes Herzfehlbildung, nicht seltene Malformation cardiaque non rare Malformação cardíaca não-rara Non-rare cardiac malformation Non-rare cardiac malformation Non-rare cardiac malformation hrdo:pat_id_18333 183811 group of phenomes Doença neurológica não-rara Maladie neurologique non rare Neurologische Krankheit, nicht seltene Non-rare neurologic disease Non-rare neurologic disease Non-rare neurologic disease hrdo:pat_id_18334 183814 group of phenomes Doença odontológica não-rara Maladie odontologique non rare Non-rare odontologic disease Non-rare odontologic disease Non-rare odontologic disease Odontologische Krankheit, nicht seltene hrdo:pat_id_18335 183817 group of phenomes Doença otorrinolaringológica não-rara Maladie otorhinolaryngologique non rare Non-rare otorhinolaryngologic disease Non-rare otorhinolaryngologic disease Non-rare otorhinolaryngologic disease Otorhinolaryngologische Krankheit, nicht seltene hrdo:pat_id_18336 183820 group of phenomes Doença hematológica não-rara Hämatologische Krankheit, nicht seltene Maladie hématologique non rare Non-rare hematologic disease Non-rare hematologic disease Non-rare hematologic disease hrdo:pat_id_18337 183830 group of phenomes Doença urogenital não-rara Maladie urogénitale non rare Non-rare urogenital disease Non-rare urogenital disease Non-rare urogenital disease Urogenitale Krankheit, nicht seltene hrdo:pat_id_18338 183835 group of phenomes Non-rare tumor Non-rare tumor Non-rare tumor Tumeur non rare Tumor não-raro Tumor, nicht seltener hrdo:pat_id_18339 183838 group of phenomes Doença dermatológica não-rara Hautkrankheit, nicht seltene Maladie dermatologique non rare Non-rare skin disease Non-rare skin disease Non-rare skin disease hrdo:pat_id_18340 183841 group of phenomes Doença sistémica e reumatológica não-rara Maladie systémique et rhumatologique non rare Non-rare systemic and rhumatologic disease Non-rare systemic and rhumatologic disease Non-rare systemic and rhumatologic disease Systemische oder Rheumatologische Krankheit, nicht seltene hrdo:pat_id_18341 183844 group of phenomes Augenkrankheit, nicht seltene Doença oftalmológica não-rara Maladie ophtalmologique non rare Non-rare eye disease Non-rare eye disease Non-rare eye disease hrdo:pat_id_18342 183847 group of phenomes Doença ranal não-rara Maladie rénale non rare Nierenkrankheit, nicht seltene Non-rare renal disease Non-rare renal disease Non-rare renal disease hrdo:pat_id_18343 183851 group of phenomes Doença endocrinológica não-rara Endokrinologische Krankheit, nicht seltene Maladie endocrinologique non rare Non-rare endocrinologic disease Non-rare endocrinologic disease Non-rare endocrinologic disease hrdo:pat_id_18344 183854 group of phenomes Doença ortopédica não-rara Maladie orthopédique non rare Non-rare orthopedic disease Non-rare orthopedic disease Non-rare orthopedic disease Orthopädische Krankheit, nicht seltene hrdo:pat_id_18345 183862 group of phenomes Doença não-rara da Orphanet Maladie non rare Nicht seltene Krankheit Non-rare disease Non-rare disease of Oprhanet Non-rare disease of Oprhanet hrdo:pat_id_1835 601187 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Gurrieri%5Btw%5D Q87.5 1858 malformation syndrome Gurrieri-Sammito-Bellussi syndrome Gurrieri-Sammito-Bellussi, síndrome de Gurrieri-Sammito-Bellussi-Syndrom Sindrome di Gurrieri-Sammito-Bellussi Syndrome de Gurrieri-Sammito-Bellussi Síndrome de Gurrieri-Sammito-Bellussi Síndrome de Gurrieri-Sammito-Bellussi Displasia esquelética - epilepsia - talla baja Displasia scheletrica - epilessia - bassa statura Displasia óssea - epilepsia - baixa estatura Dysplasie squelettique - épilepsie - petite taille Skeletal dysplasia - epilepsy - short stature Skelettdysplasie - Epilepsie - Kleinwuchs hrdo:pat_id_18358 184051 group of phenomes Anomalias não-raras do desenvolvimento, durante a embriogénese Anomalie non rare du développement embryonnaire Entwicklungsbedingte Anomalien der Embryogenese, nicht seltene Non-rare developmental anomalies during embryogenesis Non-rare developmental anomalies during embryogenesis Non-rare developmental anomalies during embryogenesis hrdo:pat_id_18359 184054 group of phenomes Doença genética não-rara Genetische bedingte Krankheit, nicht selten Maladie génétique non rare Non-rare genetic disease Non-rare genetic disease Non-rare genetic disease hrdo:pat_id_1837 187600 neant Q77.1 1860 clinical subtype Displasia esquelética tipo San Diego Displasia scheletrica, tipo San Diego Dysplasie squelettique type San Diego Skeletal dysplasia, San Diego type Skelettdysplasie, San Diego-Typ Displasia óssea tipo San Diego Dysplasie, thanatophore, Typ I Enanismo tanatofórico tipo I Nanisme thanatophore type I Nanismo tanatoforo, tipo 1 Thanatophoric dwarfism type I hrdo:pat_id_18373 neant E24.8 189424 group of phenomes ACTH independent Cushing syndrome due to bilateral adrenocortical hyperplasia Cushing-Syndrom, ACTH-unabhängiges, durch bilaterale Nebennierenrindenhyperplasie Sindrome di Cushing ACTH-indipendente da iperplasia adrenocorticale bilaterale Syndrome de Cushing indépendant de l'ACTH dû à une hyperplasie adrénocorticale bilatérale Síndrome de Cushing ACTH-independiente debido a hiperplasia adrenocortical Síndrome de Cushing independente da ACTH por hiperplasia adrenocortical bilateral hrdo:pat_id_18374 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 219080 neant E24.8 189427 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 AIMAH AIMAH AIMAH AIMAH Adrenocorticotropic hormone-independent macronodular adrenal hyperplasia Corticotropin-independent macronodular adrenal hyperplasia Hiperplasia suprarrenal macronodular independiente de corticotropina Hiperplasia suprarrenal macronodular independiente de la hormona adrenocorticotropa Hyperplasie macronodulaire des surrénales indépendante de l'adrénocorticotropine ACTH-independent macronodular adrenal hyperplasia Hiperplasia macronodular adrenal independente da ACTH Hiperplasia suprarrenal macronodular ACTH-independiente Hyperplasie macronodulaire des surrénales indépendante de l'ACTH Iperplasia macronodulare dei surreni ACTH-indipendente Nebennierenhyperplasie, ACTH-unabhängige makronoduläre hrdo:pat_id_18376 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 610475 610489 614190 neant E24.8 189439 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 PPNAD PPNAD PPNAD Doença adrenocortical nodular pigmentar primária Enfermedad adrenocortical nodular pigmentada primaria Maladie adrénocorticale nodulaire pigmentée primaire Malattia nodulare pigmentata primitiva della corteccia surrenale Primary pigmented nodular adrenocortical disease Primäre pigmentierte noduläre adrenokortikale Krankheit (PPNAD) hrdo:pat_id_18377 146200 neant E20.8 189466 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo clinical subtype Familial isolated hypoparathyroidism due to impaired PTH secretion Hipoparatiroidismo familiar aislado debido a deficiencia de secreción de PTH Hipoparatiroidismo isolado familiar por secreção de PTH diminuída Hypoparathyreoidismus, isolierter familiärer, durch gestörte PTH-Sekretion Hypoparathyroïdie isolée familiale due à un défaut de sécrétion de la PTH Ipoparatiroidismo isolato familiare da anomalia della secrezione di PTH hrdo:pat_id_18379 234810 C535861 neant D18.0 199241 233949008 C0340548 disease Emangiomatosi capillare polmonare Hemangiomatose pulmonar capilar Hemangiomatosis capilar pulmonar Hämangiomatose, kapilläre pulmonale Hémangiomatose capillaire pulmonaire Pulmonary capillary hemangiomatosis hrdo:pat_id_1838 273730 neant Q87.8 1861 malformation syndrome Displasia toracica - idrocefalo Displasia tóracica hidrocefalia Dysplasie thoracique - hydrocéphalie Síndrome displasia torácica - hidrocefalia Thoracic dysplasia-hydrocephalus syndrome Thoraxdysplasie-Hydrozephalus-Syndrom hrdo:pat_id_18380 D009347 10028913 neant E24.1 199244 43019009 C0027577 disease Nelson syndrome Nelson-Syndrom Sindrome di Nelson Syndrome de Nelson Síndrome de Nelson Síndrome de Nelson hrdo:pat_id_18381 611489 neant E27.8 199247 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficiencia de transcortina Transcortin deficiency Transcortin-Mangel CBG (Cortisol-bindendes Globulin)-Mangel Corticosteroid-binding globulin deficiency Deficiencia de globulina de unión a corticosteroide Deficit di transcortina Deficiência de globulina ligadora de corticoesteróides Déficit en transcortine hrdo:pat_id_18382 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta C537000 10035154 neant M72.2 199251 13370002 C0158360 disease Fibromatose plantaire Fibromatose, plantare Fibromatosi plantare Fibromatosis plantar Plantar fibromatosis Doença de Ledderhose Enfermedad de Ledderhose Ledderhose disease Ledderhose-Krankheit Maladie de Ledderhose Morbo di Ledderhose hrdo:pat_id_18383 199257 238853007 C0406571 group of phenomes Fibromatose superficial Fibromatose superficielle Fibromatose, superfizielle Fibromatosi superficiale Fibromatosis superficial Superficial fibromatosis hrdo:pat_id_18384 neant M72.8 199260 disease Fibrom, aponeurotisches kalzifizierendes Fibromatose aponévrotique juvénile Fibromatosi aponeurotica giovanile Fibromatosis aponeurótica juvenil Juvenile aponeurotic fibromatosis Keasby tumor Keasby-Tumor Tumeur de Keasby Tumor de Keasby Tumore di Keasby Calcified aponeurotic fibroma Fibrom, aponeurotisches juveniles Fibroma aponeurotico calcificante Fibroma aponeurótico calcificado Fibroma aponevrótico calcificado Fibrome aponévrotique calcifié hrdo:pat_id_18385 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant M72.8 199267 399903008 C1318562 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Fibroblastentumor mit Zytoplasmaeinschlüssen Fibromatose à corps d'inclusion Fibromatosi con corpi inclusi Fibromatosis con cuerpos de inclusión Inclusion body fibromatosis Recurring digital fibrous tumor of childhood Reye tumor Reye-Tumor Rezidivierender digitaler fibröser Tumor der Kindheit Tumeur de Reye Tumeur fibreuse digitale récurrente de l'enfance Tumor de Reye Tumor fibroso digital recurrente de la infancia Tumore di Reye Tumore fibroso digitale ricorrente dell'infanzia Fibromatose digital infantil Fibromatose digitale infantile Fibromatose, digitale infantile Fibromatosi digitale infantile Fibromatosis digital infantil Infantile digital fibromatosis hrdo:pat_id_18386 151900 neant E88.2 199276 disease Familial multiple lipomatosis Lipomatose multiple familiale Lipomatose múltipla familiar Lipomatose, multiple, familiäre Form Lipomatosi multipla familiare Lipomatosis familiar múltiple hrdo:pat_id_18387 206550 neant 199279 disease Angiolipomatose familiale Angiolipomatose familiar Angiolipomatose, familiäre Angiolipomatosi familiare Angiolipomatosis familiar Familial angiolipomatosis hrdo:pat_id_18388 Variabel Variabile Variable Variable Variable Variable Variável C535634 neant G90.8 199282 C2029348 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Harlequin syndrome Harlequin-Syndrom Sindrome di Arlecchino Syndrome d'Harlequin Síndrome de Harlequin Síndrome del arlequín hrdo:pat_id_18389 115300 277350 neant E50 199285 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Déficit en vitamine A et hypercarotinémie héréditaire Hereditary hypercarotenemia and vitamin A deficiency Hipercarotenemia e deficiência de vitamina A, hereditárias Hipercarotinemia hereditaria y deficiencia de vitamina A Hyperkarotinämie, hereditäre, mit Vitamin A-Mangel Ipercatotenemia ereditaria - deficit di vitamina A hrdo:pat_id_1839 224410 neant Q77.7 1865 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Displasia disegmentaria tipo Silverman Handmaker Displasia dissegmentar tipo Silverman-Handmaker Displasia dissegmentaria, tipo Silverman Handmaker Dysplasie dyssegmentaire type Silverman-Handmaker Dysplasie, dyssegmentale, Typ Silverman-Handmaker Dyssegmental dysplasia, Silverman-Handmaker type hrdo:pat_id_18391 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q40.2 199293 83714006 C0266150 morphological anomaly <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Congenital microgastria Microgastria congenita Microgastria congénita Microgastria congénita Microgastrie congénitale Mikrogastrie, kongenitale hrdo:pat_id_18392 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 201400 neant E23.6 199296 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease ACTH-Mangel, isolierter, kongenitaler Congenital isolated ACTH deficiency Deficiencia de ACTH congénita aislada Deficit congenito isolato di ACTH Deficiência isolada de ACTH, congénita Déficit congénital isolé en ACTH hrdo:pat_id_18393 neant E23.6 199299 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease ACTH-Mangel, isolierter, spät beginnender Deficiencia de ACTH aislada de aparición tardía Deficit isolato di ACTH a esordio tardivo Deficiência isolada de ACTH, de início tardio Déficit isolé tardif en ACTH Late-onset isolated ACTH deficiency hrdo:pat_id_18394 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q36 199302 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 Fenda do lábio isolada Fente labiale isolée Isolated cleft lip Labio leporino aislado Labioschisi isolata Lippenspalte, isolierte hrdo:pat_id_18395 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 10009260 neant Q37 199306 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 Alveolar cleft lip and palate Cleft lip - alveolus - palate Cleft lip and palate FLP FLP FLP FLP FLP Fente labio-alvéolo-maxillo-palatine Fente labio-alvéolo-maxillo-vélo-palatine Fente labio-alvéolo-palatine Fente labio-maxillo-palatine Fente labio-maxillo-vélo-palatine Fisura labio-alveolo-palatina Fisura labiopalatina Labiopalatoschisi alveolare Lippen-, Oberkiefer- und Gaumenspalte Lippen-Kiefer-Spalte Lippengaumenspalte, alveoläre Schisi labio/alveolo/palatina Schisi labiopalatina Cleft lip/palate Fenda do lábio/palato Fente labio-palatine Labio leporino/paladar hendido Labio/palatoschisi Lippen-Kiefer-Gaumenspalten hrdo:pat_id_18396 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q99.0 199310 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome 46,XX/46,XY Chimerismus 46,XX/46,XY chimerism Chimerismo 46,XX/46,XY Chimère 46,XX/46,XY Quimerismo 46,XX/46,XY Chimerismo tetragametico Chimère tétragamétique Quimerismo tetragamético Quimerismo tetragamético Tetragametic chimerism Tetragametischer Chimärismus hrdo:pat_id_18398 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q66.8 199315 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Familial clubfoot with or without associated lower limb anomalies Hemimelia tibial - pé boto Klumpfuß, familiärer, mit oder ohne untere Extremitätenanomalie Pie zambo familiar con o sin anomalías de los miembros inferiores Pied bot familial avec ou sans autres anomalies des membres inférieurs Piede torto familiare con o senza anomalie degli arti inferiori correlate hrdo:pat_id_18399 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 612001 neant Q93.5 199318 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Del(15)(q13.3) Del(15)(q13.3) Del(15)(q13.3) Del(15)(q13.3) Del(15)(q13.3) Monosomia 15q13.3 Monosomie 15q13.3 Monosomie 15q13.3 Monosomy 15q13.3 Monosomía 15q13.3 15q13.3 microdeletion syndrome Mikrodeletionssyndrom 15q13 Sindrome da microdelezione 15q13.3 Syndrome de microdélétion 15q13.3 Síndrome de microdeleción 15q13.3 Síndrome de microdelecção 15q13.3 hrdo:pat_id_1840 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 302000 Q81.8 1867 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Distrofia bullosa hereditaria, tipo macular Bullous dystrophy, macular type Distrofia ampollosa hereditaria, tipo macular Distrofia bollosa ereditaria, tipo maculare Dystrophie bulleuse héréditaire type maculaire Dystrophie, bullöse, makulärer Typ Epidermólise bolhosa, tipo macular hrdo:pat_id_18400 D009877 10014801 neant H44.0 H44.1 199323 1847009 C0014236 disease Endoftalmite Endoftalmite Endoftalmitis Endophtalmite Endophthalmitis Endophthalmitis hrdo:pat_id_18401 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant E83.4 199326 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hipomagnesemia aislada autosómica dominante, tipo Glaudemans Hipomagnesemia isolada, autossómica dominante, tipo Glaudemans Hypomagnesiämie, isolierte, autosomal-dominante, Typ Glaudemans Hypomagnésémie isolée autosomique dominante type Glaudemans Ipomagnesemia isolata autosomica dominante, tipo Glaudemans Isolated autosomal dominant hypomagnesemia, Glaudemans type hrdo:pat_id_18402 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant G71.2 199329 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Congenital myopathy, Paradas type Miopatia congenita, tipo Paradas Miopatia congénita, tipo Paradas Miopatía congénita tipo Paradas Myopathie congénitale type Paradas Myopathie, kongenitale, Typ Paradas hrdo:pat_id_18403 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 612651 neant Q87.8 199332 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ECO syndrome Sindrome ECO Syndrome ECO Síndrome ECO Endocrine-cerebro-osteodysplasia syndrome Endokrin-zerebral-osteodysplastisches Syndrom Sindrome endocrino-cerebro-osteodisplastica Syndrome endocrino-cérébro-ostéodysplasique Síndrome endocrino-cerebro-osteodisplásico Síndrome endocrino-cérebro-osteodisplasia hrdo:pat_id_18404 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 612714 neant 199337 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Insufficienza pancreatica - anemia - iperostosi Insuffisance pancréatique - anémie - hyperostose Insuficiencia pancreática - anemia - hiperostosis Insuficiência pancreática - anemia - hiperostose Pancreatic insufficiency - anemia - hyperostosis Pankreasinsuffizienz - Anämie - Hyperostose hrdo:pat_id_18405 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 612954 neant G71.8 199340 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Distrofia muscolare, tipo Selcen Distrofia muscular tipo Selcen Distrofia muscular, tipo Selcen Dystrophie musculaire type Selcen Muscular dystrophy, Selcen type Muskeldystrophie Typ Selcen hrdo:pat_id_18406 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 612780 neant 199343 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Convulsiones - sordera neurosensorial - ataxia - déficit intelectual - desequilibrio electrolítico Convulsioni - sordità neurosensoriale - atassia - deficit cognitivo - squilibrio elettrolitico EAST syndrome Epilepsie - surdité neurosensorielle - ataxie - déficit intellectuel - déséquilibre électrolytique Krämpfe - sensorineurale Schwerhörigkeit - Ataxie - intelligenzminderung - Elektrolytimbalance SESAME-Syndrom Seizures - sensorineural deafness - ataxia - intellectual deficit - electrolyte imbalance Sindrome EAST Syndrome EAST Síndrome EAST SeSAME syndrome SeSAME-Syndrom Sindrome SeSAME Syndrome SeSAME Síndrome SeSAME Síndrome SeSAME hrdo:pat_id_18407 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 607483 neant 199348 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Encefalopatia sensibile alla tiamina Encefalopatia sensível à tiamina Encefalopatía sensible a la tiamina Encéphalopathie sensible à la thiamine Enzephalopathie, Thiamin-responsive Thiamine-responsive encephalopathy hrdo:pat_id_18408 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 612953 neant G24.1 199351 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dystonia-parkinsonism, Paisan-Ruiz type Dystonie-parkinsonisme type Paisan-Ruiz Adult-onset dystonia-parkinsonism Distonia-parkinsonismo, tipo Paisan-Ruiz Distonia-parkinsonismo, tipo Paisan-Ruiz Distonía-parkinsonismo tipo Paisan-Ruiz Dystonie-Parkinson-Syndrom Typ Paisan-Ruiz Dystonie-parkinsonisme de l'adulte hrdo:pat_id_18409 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 600142 neant F01.1 I67.8 199354 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Arteriopatia cerebrale, autosomica recessiva, con infarti subcorticali e leucoencefalopatia Arteriopatía cerebral autosómica recesiva con infarto subcortical y leucoencefalopatía Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy Maeda syndrome Maeda-Syndrom Sindrome di Maeda Syndrome Maeda Síndrome Maeda Zerebrale Arteriopathie mit subkortikalen Infarkten und Leukoenzephalopathie, autosomal-rezessiv CARASIL CARASIL CARASIL-Syndrom Sindrome CARASIL Síndrome CARASIL Síndrome CARASIL hrdo:pat_id_18410 10003747 neant F84.1 199627 231536004 C0338986 disease Atypical autism Autisme atypique Autismo atipico Autismo atípico Autismo atípico Autismus, atypischer hrdo:pat_id_18411 neant Q04.3 199630 morphological anomaly Hipoplasia del vermis cerebeloso aislada Hipoplasia isolada do vermis cerebelar Hypoplasie isolée du vermis cérébelleux Ipoplasia isolata del verme cerebellare Isolated cerebellar vermis hypoplasia Vermishypoplasie, isolierte zerebelläre hrdo:pat_id_18412 neant 199633 group of phenomes Brain malformation Hirnfehlbildung Malformación del cerebro Malformazione del cervello Cerebral malformation Malformación cerebral Malformation cérébrale Malformazione cerebrale Malformação cerebelar Zerebrale Fehlbildung hrdo:pat_id_18414 199639 group of phenomes Sindrome con agenesia/disgenesia del corpo calloso come segno cardinale Syndrom mit Corpus callosum-Agenesie als Hauptmerkmal Syndrome avec une agénésie/dysgénésie du corps calleux comme manifastation majeure Syndrome with corpus callosum agenesis /dysgenesis as a major feature Síndrome com agenesia do corpo caloso Síndrome con agenesia/disgenesia del cuerpo calloso como característica principal hrdo:pat_id_18415 neant Q02 199642 group of phenomes Mikrozephalie Isolated congenital microcephaly Microcefalia congenita isolata Microcefalia congénita aislada Microcéphalie congénitale isolée Microencefalia Mikrozephalie, isolierte congenitale hrdo:pat_id_18416 D004677 10014617 neant Q01 199647 55999004 morphological anomaly Encefalocele aislado Encefalocele isolato Encefalocelo Encéphalocèle isolé Enzephalozele, isolierte Isolated encephalocele hrdo:pat_id_1842 180020 300085 304030 602093 613093 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=cone%5Bti%5D+dystroph*%5Bti%5D+dominant H35.5 1871 267613004 C0271092 disease Cone dystrophy Distrofia de conos Distrofie dei coni Dystrophie des cônes Zapfendystrophie Distrofia de conos progresiva Distrofia dos cones de início tardio, forma dominante Distrofia progressiva dei coni Dystrophie progressive des cônes Progressive cone dystrophy Zapfendystrophie, progressive hrdo:pat_id_18420 200037 group of phenomes Distonia parossistica Distonia paroxística Distonía paroxística Dystonie paroxystique Dystonie, paroxysmale Paroxysmal dystonia hrdo:pat_id_18421 610984 neant D84.1 200418 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Immundefekt mit Faktor I-Anomalie Immunodeficiency with factor I anomaly Immunodeficienza con anomalia del fattore I Immunodéficience associée à une anomalie du facteur I Imunodeficiência com anomalia do fator I Inmunodeficiencia con anomalía de factor I hrdo:pat_id_18422 609814 neant D84.1 200421 disease Immundefekt mit Faktor H-Anomalie Immunodeficiency with factor H anomaly Immunodeficienza con anomalia del fattore H Immunodéficience associée à une anomalie du facteur H Imunodeficiência com anomalia do fator H Inmunodeficiencia con anomalía de factor H hrdo:pat_id_1843 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 120970 300476 300834 304020 600624 600977 601777 602093 603649 604116 604393 605549 608194 610283 610381 610478 612657 612775 613660 614500 615163 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=cone+rod%5Bti%5D+dystroph*%5Bti%5D H35.5 1872 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 'Cone-rod' dystrophie Dystrophies mixtes cônes-bâtonnets Dystrophies à cônes prédominants Cone rod dystrophy Distrofia de conos y bastones Distrofia dei coni e dei bastoncelli Distrofia dos cones e bastonetes Dystrophie des cônes et des bâtonnets Zapfen-Stäbchen-Dystrophie hrdo:pat_id_1844 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 217080 neant H35.5 1873 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cone rod dystrophy - amelogenesis imperfecta Distrofia de conos y bastones - amelogénesis imperfecta Distrofia dei coni e dei bastoncelli - amelogenesi imperfetta Dystrophie des cônes et des batonnets - amélogenèse imparfaite Zapfen-Stäbchen-Dystrophie - Amelogenesis imperfecta Distrofia dos cones e bastonetes - amelogénese imperfeita Jalili syndrome Jalili-Syndrom Sindrome di Jalili Syndrome de Jalili Síndrome de Jalili hrdo:pat_id_1845 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 254000 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=cataract+hypogonadism+muscular+dystrophy+OR+(Bassoe%5B1au%5D+Muscular+Dystrophies) 1875 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Bassoe syndrome Bassoe, síndrome de Bassoe-Syndrom Sindrome di Bassoe Syndrome de Bassoe Síndrome de Bassoe Síndrome de Bassoe Congenital muscular dystrophy - infantile cataract - hypogonadism Distrofia muscolare congenita - cataratta infantile - ipogonadismo Distrofia muscular - cataratas congénitas - hipogonadismo Distrofia muscular congénita - catarata infantil - hipogonadismo Dystrophie musculaire congénitale - cataracte infantile - hypogonadisme Muskeldystrophie, kongenitale - infantile Katarakt - Hyogonadismus hrdo:pat_id_1847 neant M85.8 1879 malformation syndrome Distrofia ossea sclerosante mista Distrofia ósea esclerosante mixta Dystrophie osseuse sclérosante mixte Knochendystrophie, gemischte sklerotisierende MSBD syndrome MSBD, síndrome MSBD-Syndrom Mixed sclerosing bone dystrophy Sindrome MSBD Syndrome MSBD Síndrome MSBD Síndrome MSBD Distrofia óssea esclerosante mista Meloreostosi con osteopoichilosi Melorheostose mit Osteopoikilosis Melorheostosis with osteopoikilosis Melorreostosis con osteopoiquilia Mélorhéostose avec ostéopoecilie hrdo:pat_id_18483 202940 group of phenomes Anomalia da puberdade e/ou do ciclo menstrual, de origem genética Anomalia della pubertà e/o del ciclo mestruale di origine genetica Anomalie du cycle menstruel et/ou de la puberté d'origine génétique Anomaly of puberty or/and menstrual cycle of genetic origin Anomalía de la pubertad y/o del ciclo menstrual de origen genético Genetisch bedingte Störungen der Pubertät und/oder der Menstruation hrdo:pat_id_18484 202948 group of phenomes Microftalmia sindromica Microftalmia sindrómica Microftalmia sindrómica Microphtalmie syndromique Mikrophthalmie, syndromale Syndromic microphthalmia hrdo:pat_id_18494 Variabel Variabile Variable Variable Variable Variable Variável neant E79.8 206428 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficit di HPRT Deficit di HPRT1 Deficit di ipoxantina-guanina fosforibosiltransferasi 1 Déficit de HPRT Déficit de HPRT1 Déficit de hipoxantina-guanina fosforibosiltransferasa 1 Déficit en HPRT Déficit en HPRT1 Déficit en hypoxanthine-guanine phosphoryl transférase 1 HPRT deficiency HPRT-Mangel HPRT1 deficiency HPRT1-Mangel Hypoxanthin-Guanin-Phosphoribosyltransferase-1-Mangel Hypoxanthine-guanine phosphoribosyltransferase 1 deficiency Deficit di ipoxantina-guanina fosforibosiltransferasi Deficiência da hipoxantina-guanina fosforribosiltransferase Déficit de hipoxantina-guanina fosforibosiltransferasa Déficit en hypoxanthine-guanine phosphoryl transférase Hypoxanthin-Guanin-Phosphoribosyltransferase-Mangel Hypoxanthine-guanine phosphoribosyltransferase deficiency hrdo:pat_id_18495 neant E75.2 206436 clinical subtype Enfermedad de Krabbe, aparición temprana Enfermedad de Krabbe, forma clásica Krabbe disease, classic form Krabbe disease, early-onset Krabbe-Syndrom, früh beginnendes Krabbe-Syndrom, klassische Form Maladie de Krabbe classique Maladie de Krabbe à début précoce Malattia di Krabbe a esordio precoce Malattia di Krabbe, forma classica Doença de Krabbe, forma infantil Enfermedad de Krabbe, forma infantil Infantile Krabbe disease Krabbe-Syndrom, infantile Form Maladie de Krabbe infantile Malattia di Krabbe, forma infantile hrdo:pat_id_18496 neant E75.2 206443 clinical subtype Enfermedad de Krabbe, aparición tardía Krabbe disease, late-onset Krabbe-Syndrom, spät beginnendes Maladie de Krabbe à début tardif Malattia di Krabbe a esordio tardivo Doença de Krabbe, forma infantil, tardia ou juvenil Enfermedad de Krabbe, infantil tardía o forma juvenil Krabbe-Syndrom, spät-infantiles oder juveniles Late-infantile or juvenile Krabbe disease Maladie de Krabbe infantile tardive ou juvénile Malattia di Krabbe, forma tardoinfantile o giovanile hrdo:pat_id_18497 neant E75.2 206448 clinical subtype Adult Krabbe disease Doença de Krabbe de apresentação no adulto Enfermedad de Krabbe, aparición en adultos Krabbe-Syndrom, mit Beginn im Erwachsenenalter Maladie de Krabbe de l'adulte Malattia di Krabbe a esordio nell'età adulta hrdo:pat_id_18499 neant D27 206470 disease Cistadenoma mucinoso o sieroso dell'infanzia Cistadenoma seroso ou mucinoso Cistoadenoma seroso o mucinoso de la infancia Cystoadénome séreux ou mucineux de l'enfant Serous or mucinous cystadenoma of childhood Zystadenom, seröses oder muzinöses hrdo:pat_id_185 Variabel Variabile Variable Variable Variable Variable Variável 162200 162210 613675 C538607 D009456 10047712 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=neurofibromatosis+1+OR+Neurofibromatosis+type+i%5BTw%5D+OR+Von+Recklinghausen%5Bti%5D Q85.0 636 92824003 C0027831 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Doença de von Recklinghausen Enfermedad de Von Recklinghausen Maladie de Recklinghausen Malattia di Von Recklinghausen NF 1 NF 1 NF 1 NF1 NF1 Neurofibromatose 1 Neurofibromatose 1 Neurofibromatosi 1 Neurofibromatosis 1 Neurofibromatosis 1 Von Recklinghausen disease Von Recklinghausen, doença de Von Recklinghausen-Erkrankung Neurofibromatose Typ 1 Neurofibromatose tipo 1 Neurofibromatose type 1 Neurofibromatosi, tipo 1 Neurofibromatosis tipo 1 Neurofibromatosis type 1 hrdo:pat_id_1850 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 225050 1882 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ANOTHER syndrome ANOTHER, síndrome Sindrome ANOTHER Syndrome ANOTHER Síndrome ANOTHER Displasia ectodermica ipoidrotica - ipotiroidismo - discinesia ciliare Displasia ectodérmica - hipoidrose - hipotiroidismo - discinesia ciliar Displasia ectodérmica hipohidrosis hipotiroidismo Dysplasie ectodermique - hypohidrose - hypothyroïdie - dyskinésie ciliaire Dysplasie, ektodermale hypohidrotische - Hypothyreose - Ziliendyskinesie Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia hrdo:pat_id_18500 neant C56 206473 disease Ovarialtumor mit niedrigem malignen Potential Ovarian tumor of low malignant potential Tumeur épithéliale de l'ovaire "borderline" Tumor ovárico de bajo potencial maligno Tumore ovarico a basso potenziale di malignità Borderline ovarian epithelial tumor Ovarialtumor, epithelialer, Borderline-Typ Tumeur épithéliale de l'ovaire, à la limite de la malignité Tumor epitelial ovárico borderline Tumor epitelial ovárico borderline Tumore epiteliale borderline dell'ovaio hrdo:pat_id_18502 424500 neant C56 206484 disease Gonadoblastom Gonadoblastoma Gonadoblastoma de ovario Gonadoblastoma ovarico Gonadoblastome ovarien Ovarian gonadoblastoma hrdo:pat_id_18503 neant C52 206489 disease Cancer germinal du vagin Cancro vaginale a cellule germinali Cáncer de células germinales de vagina Vaginal germ cell cancer Keimzelltumor der Vagina Tumeur germinale maligne du vagin Tumor maligno de células germinales de vagina Tumor maligno vaginal de células germinativas Tumore vaginale maligno a cellule germinali Vaginal germ cell malignant tumor hrdo:pat_id_18504 neant C52 206492 disease Rabdomiosarcoma vulvovaginal Rabdomiosarcoma vulvovaginale Rabdomiossarcoma do trato genital Rhabdomyosarcome vulvo-vaginal Rhabdomyosarkom des Genitaltraktes Vulvovaginal rhabdomyosarcoma hrdo:pat_id_1851 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 224800 1883 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Displasia ectodermica - sordità neurosensoriale Displasia ectodérmica - sordera neurosensorial Displasia ectodérmica - surdez neuro-sensorial Dysplasie ectodermique - surdité neurosensorielle Dysplasie, ektodermale - Schallempfindungsschwerhörigkeit Ectodermal dysplasia - sensorineural deafness hrdo:pat_id_18518 neant C56 206538 disease Cancer germinal non-dysgerminomateux Cancro non disgerminomatoso a cellule germinali Cáncer de células germinales no disgerminomatoso Nondysgerminomatous germ cell cancer Keimzelltumor des Ovars, nicht-dysgerminomatöser Malignant nondysgerminomatous germ cell tumor Tumeur germinale maligne non-dysgerminomateuse Tumor de células germinativas ováricas, não-disgerminoma Tumor maligno de células germinales no disgerminomatoso Tumore non disgerminomatoso maligno a cellule germinali hrdo:pat_id_18519 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant G71.0 206546 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Forma sintomatica femminile della distrofia muscolare di Duchenne e di Becker Forma sintomática de distrofia muscular de Duchenne e Becker em portadoras Forma sintomática de la distrofia muscular de Duchenne y Becker en mujeres portadoras Forme symptomatique de la dystrophie musculaire de Duchenne et Becker de la femme conductrice Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers Symptomatische Form der Muskeldystrophie Duchenne und Becker in weiblichen Trägerinnen hrdo:pat_id_18520 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 611307 neant G71.0 206549 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 LGMD2L LGMD2L LGMD2L LGMD2L LGMD2L Autosomal recessive limb-girdle muscular dystrophy type 2L Distrofia muscolare dei cingoli autosomica recessiva, tipo 2L Distrofia muscular das cinturas, autossómica recessiva, tipo 2L Distrofia muscular de cinturas autosómica recesiva tipo 2L Dystrophie musculaire des ceintures autosomique récessive type 2L Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2L hrdo:pat_id_18521 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 611588 neant G71.0 206554 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 LGMD2M LGMD2M LGMD2M LGMD2M LGMD2M Autosomal recessive limb-girdle muscular dystrophy type 2M Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2M Distrofia muscular das cinturas, autossómica recessiva, tipo 2M Distrofia muscular de cinturas y extremidades autosómica recesiva tipo 2M Dystrophie musculaire des ceintures autosomique récessive type 2M Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2M hrdo:pat_id_18522 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 613158 neant G71.0 206559 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 LGMD2N LGMD2N LGMD2N LGMD2N LGMD2N Autosomal recessive limb-girdle muscular dystrophy type 2N Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2N Distrofia muscular das cinturas, autossómica recessiva, tipo 2N Distrofia muscular de cinturas autosómica recesiva tipo 2N Dystrophie musculaire des ceintures autosomique récessive type 2N Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2N hrdo:pat_id_18523 613157 neant G71.0 206564 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease LGMD2O LGMD2O LGMD2O LGMD2O Autosomal recessive limb-girdle muscular dystrophy type 2O Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2O Distrofia muscular das cinturas, autossómica recessiva, tipo 2O Distrofia muscular de cinturas autosómica recesiva tipo 2O Dystrophie musculaire des ceintures autosomique récessive type 2O Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2O hrdo:pat_id_18524 206569 disease Anti-SRP myopathy Immune-mediated necrotizing myopathy Miopatia anti-SRP Miopatia necrotizzante immunomediata Miopatía anti-SRP Miopatía necrotizante mediada por el sistema inmune Myopathie associée aux anti=SRP Autoimmune necrotizing myopathy Miopatia necrotizante autoimune Miopatia necrotizzante autoimmune Miopatía necrotizante autoinmune Myopathie nécrosante à médiation autoimmune Nekrotisierende Myopathie, autoimmune hrdo:pat_id_18525 206572 group of phenomes Adult-onset overlap myositis Myosite de chevauchement de l'adulte Miosite da sovrapposizione Miosite de sobreposição Miositis overlap Myosite de chevauchement Myositis-Overlap-Syndrom Overlap myositis hrdo:pat_id_18526 neant G70.8 206575 disease "Rippling muscle disease" adquirida "Rippling muscle disease" inmunomediado Acquired rippling muscle disease Immune-mediated rippling muscle disease Malattia immunomediata da increspatura muscolare Miopatia con increspatura muscolare con miastenia gravis Rippling-muscle'-Krankheit, erworbene Rippling-muscle'-Krankheit, immunvermittelte "Rippling muscle disease" con miastenia gravis Doença muscular com ondulações com miastenia grave Malattia da increspatura muscolare con miastenia grave Rippling muscle disease avec myasthenia gravis Rippling muscle disease with myasthenia gravis Rippling-muscle'-Krankheit mit Myasthenia gravis hrdo:pat_id_18527 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 611067 neant G12.2 206580 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Amyotrophie spinale distale type 4 Amyotrophie spinale distale type 4 autosomique récessive Atrofia espinal distal autosómica recesiva tipo 4 Atrofia muscolare spinale distale autosomica recessiva, tipo 4 Atrofia muscolare spinale distale, tipo 4 Atrofia muscular espinal distal tipo 4 Autosomal recessive distal spinal muscular atrophy type 4 DSMA4 DSMA4 DSMA4 DSMA4 DSMA4 Distal spinal muscular atrophy type 4 Muskelatrophie, distale spinale, Typ 4 Autosomal recessive lower motor neuron disease with childhood onset Doença do segundo neurónio motor, autossómica recessiva, com apresentação na infância Enfermedad de la motoneurona inferior autosómica recesiva de la infancia Maladie du motoneurone inférieur autosomique récéssive de l'enfance Malattia dei motoneuroni inferiori autosomica recessiva a esordio infantile Vorderhornerkrankung, autosomal-rezessive, des Kindes hrdo:pat_id_18528 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 263570 neant E74.0 206583 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 APBD APBD APBD APBD Adult polyglucosan body disease Doença de corpos de poliglucosano do adulto Enfermedad con cuerpos de poliglucosano del adulto Maladie des corps de polyglucosane de l'adulte Malattia da corpi di poliglucosano dell'adulto Polyglukosankörper-Krankheit, adulte hrdo:pat_id_18529 206586 disease Neurolinfomatose Neurolinfomatosi Neurolinfomatosis Neurolymphomatose Neurolymphomatose Neurolymphomatosis hrdo:pat_id_1853 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 246500 Q82.4 1816 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Leucomelanoderma - déficit intelectual - hipotricosis Leucomelanodermia - atraso mental - hipotricose Leucomelanodermia - ritardo mentale - ipotricosi Leukomelanoderma - intellectual deficit - hypotrichosis Leukomelanodermie - geistige Retardierung - Hypotrichose Leukomélanoderme - déficit intellectuel - hypotrichosis Displasia ectodermica, tipo Berlin Displasia ectodérmica tipo Berlin Displasia ectodérmica, tipo Berlin Dysplasie ectodermique type Berlin Dysplasie, ektodermale, Typ Berlin Ectodermal dysplasia, Berlin type hrdo:pat_id_18530 neant G61.8 206594 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Poliradicoloneuropatia infiammatoria demielinizzante subacuta Polirradiculoneuropatía desmielinizante inflamatoria subaguda Polyradikuloneuropathie, demyelinisierende entzündliche subakute Subacute inflammatory demyelinating polyradiculoneuropathy Polineuropatia infiammatoria demielinizzante subacuta Polineuropatia inflamatória desmielinizante subaguda Polineuropatía desmielinizante inflamatoria subaguda Polyneuropathie, demyelinisierende inflammatorische subakute Polyradiculonévrite dysimmunitaire subaigue Subacute inflammatory demyelinating polyneuropathy hrdo:pat_id_18531 206599 disease Elévation isolée de la CPK hyperCKémie isolée asymptomatique Aumento asintomatico isolato dei livelli di creatina fosfochinasi Elevación aislada asintomática de creatinfosfoquinasa Elevação isolada e assintomática de creatina fosfoquinase Elévation isolée asymptomatique de la créatine phosphokinase Erhöhung der Kreatinphosphokinase, isolierte asymptomatische Form Isolated asymptomatic elevation of creatine phosphokinase hrdo:pat_id_18532 206606 group of phenomes Altre forme di debolezza muscolare e/o dolore muscolare cronico Autre syndrome de fatigabilité et/ou douleur musculaire chronique Muskelerschöpfung und/oder Muskelschmerz, sonstige Form Other muscle weakness and/or chronic muscle pain Otras debilidades musculares y/o dolor muscular crónico Outra fraqueza muscular e/ou dor muscular crónica hrdo:pat_id_18533 206610 group of phenomes Affaticamento muscolare cronico e/o dolore muscolare cronico Chronic muscular fatigue and/or chronic muscle pain Fadiga muscular crónica e/ou dor muscular crónica Fatiga muscular crónica y/o dolor muscular crónico Muskelerschöpfung und/oder Muskelschmerz, chronische Form Syndrome musculaire de fatigabilité chronique et/ou douleur hrdo:pat_id_18534 206613 group of phenomes Enfermedad infecciosa con neuropatía periférica Infecciosa com neuropatia periférica, doença Infectious disease with peripheral neuropathy Infektionskrankheit mit peripherer Neuropathie Maladie infectieuse avec neuropathie périphérique Malattia infettiva con neuropatia periferica hrdo:pat_id_18535 206616 disease Acquired metabolic neuropathy Neuropathie métabolique acquise Neuropathie, metabolische, erworbene Neuropatia metabolica acquisita Neuropatia metabólica adquirida Neuropatía metabólica adquirida hrdo:pat_id_18536 206619 disease Neuropathie toxique et/ou iatrogène Neuropathie, toxische und/oder iatrogene Neuropatia iatrogena e/o tossica Neuropatia tóxica e/ou iatrogénica Neuropatía yatrogénica y/o tóxica Toxic or/and iatrogenic neuropathy hrdo:pat_id_18537 206634 group of phenomes Doença genética do músculo esquelético Enfermedad muscular esquelética genética Genetic skeletal muscle disease Genetisch bedingte Krankheit der Skelettmuskeln Maladie génétique du muscle squelettique Malattia genetica del muscolo scheletrico hrdo:pat_id_18538 206638 group of phenomes Acquired skeletal muscle disease Doença adquirida do músculo esquelético Enfermedad muscular esquelética adquirida Erworbene Krankheit der Skelettmuskeln Maladie acquise du muscle squelettique Malattia acquisita del muscolo scheletrico hrdo:pat_id_18539 neant G71.0 206644 group of phenomes Distrofia muscolare progressiva Distrofia muscular progresiva Distrofia muscular progressiva Dystrophie musculaire progressive Muskeldystrophie, progressive Progressive muscular dystrophy hrdo:pat_id_1854 129510 neant Q82.4 1818 malformation syndrome Displasia ectodermica, tipo onico-trico-dentale Displasia ectodérmica, tipo trico-odonto-oniquial Displasia ectodérmica, tipo trico-odonto-ungueal Dysplasie ectodermique tricho-odonto-onychial Dysplasie, ektodermale, tricho-odonto-onychaler Typ Ectodermal dysplasia, tricho-odonto-onychial type hrdo:pat_id_18540 D009223 10068871 neant G71.1 206647 C0027126 group of phenomes Distrofia miotonica Distrofia miotónica Distrofia miotónica Dystrophie myotonique Myotone Dystrophie Myotonic dystrophy hrdo:pat_id_18541 neant G71.0 206650 group of phenomes Autosomal dominant distal myopathy Miopatia distal, autossómica dominante Miopatia distale, autosomica dominante Miopatía distal autosómica dominante Myopathie distale autosomique dominante Myopathie, distale, autosomal-dominante hrdo:pat_id_18542 neant G71.0 206653 group of phenomes Autosomal recessive distal myopathy Miopatia distal, autossómica recessiva Miopatia distale, autosomica recessiva Miopatía distal autosómica recesiva Myopathie distale autosomique récessive Myopathie, distale, autosomal-rezessive hrdo:pat_id_18543 206656 group of phenomes Miopatia non distrofica Miopatia não-distrófica Miopatía no distrófica Myopathie, nichtdystrophe Myopathies non dystrophiques Non-dystrophic myopathy hrdo:pat_id_18544 206659 disease Miopatia non distrofica con difetto del collagene 6 Miopatía no distrófica con anomalías del colágeno 6 Myopathie non dystrophique avec anomalie du collagène 6 Nichtdystrophe Myopathien mit Kollagen-6-Anomalie Non-dystrophic myopathy with collagen 6 anomaly Outra miopatia não-distrófica com anomalia do colagéneo 6 hrdo:pat_id_18545 neant G71.8 206662 group of phenomes Einschlusskörper-Myopathie Inclusion myopathy Miopatia da inclusione Miopatia de inclusão Miopatía por cuerpos de inclusión Myopathie à inclusion hrdo:pat_id_18547 neant G12.2 206701 group of phenomes Amyotrophie bulbospinale Atrofia muscolare bulbospinale Atrofia muscular bulbo-espinhal Atrofia muscular bulboespinal Bulbospinal muscular atrophy Muskelatrophie, bulbospinale hrdo:pat_id_18548 neant G12.2 206704 group of phenomes Amyotrophie bulbospinale de l'enfant Atrofia muscolare bulbospinale del bambino Atrofia muscular bulbo-espinhal das crianças Atrofia muscular bulboespinal infantil Bulbospinal muscular atrophy of children Muskelatrophie, bulbospinale, des Kindes hrdo:pat_id_18549 neant G12.2 206707 group of phenomes Amyotrophie bulbospinale de l'adulte Atrofia muscolare bulbospinale dell'adulto Atrofia muscular bulbo-espinhal do adulto Atrofia muscular bulboespinal del adulto Bulbospinal muscular atrophy of adult Muskelatrophie, bulbospinale, des Erwachsenen hrdo:pat_id_1855 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 227260 C536385 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Setleis+syndrome%5Btw%5D+OR+Setleis%5B1au%5D Q82.4 1807 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Displasia dermica facciale focale, tipo 2 Displasia dérmica focal facial , de tipo II Dysplasie dermo-faciale focale type II Dysplasie, dermale faziale fokale, Typ II Focal facial dermal dysplasia type 2 Setleis syndrome Setleis, síndrome de Setleis-Syndrom Sindrome di Setleis Syndrome de Setleis Síndrome de Setleis Síndrome de Setleis Displasia ectodermica facciale Displasia ectodérmica facial Displasia ectodérmica facial Dysplasie ectodermique faciale Dysplasie, ektodermale faziale Facial ectodermal dysplasia hrdo:pat_id_18550 neant G12.2 206710 group of phenomes Amyotrophie spinale généralisée Atrofia muscolare bulbospinale generalizzata Atrofia muscular bulbo-espinhal generalizada Atrofia muscular bulboespinal generalizada Generalized bulbospinal muscular atrophy Muskelatrophie, bulbospinale generalisierte hrdo:pat_id_18551 neant G12.1 206713 230247001 C0393541 group of phenomes Amyotrophie spinale distale Atrofia muscolare spinale distale Atrofia muscular espinal distal Atrofia muscular espinhal distal Distal spinal muscular atrophy Muskelatrophie, distale spinale hrdo:pat_id_18553 255100 neant 206953 group of phenomes Lipid storage myopathy Lipidspeicherkrankheit Miopatia da accumulo di lipidi Miopatía por almacenamiento de lípidos Myopathie avec anomalie du métabolisme des lipides Myopathie avec surcharge en lipide Lipidose musculaire Lipidose muscular Lipidose, muskuläre Lipidosi muscolare Lipidosis muscular Muscular lipidosis hrdo:pat_id_18554 neant E74.0 206959 group of phenomes Glycogen storage myopathy Glykogenspeicher-Myopathie Miopatia da accumulo di glicogeno Miopatía por almacenamiento de glucógeno Myopathie avec anomalie du métabolisme du glycogène Myopathie avec surcharge en glycogène Glicogenose muscular Glicogenosi muscolare Glucogenosis muscular Glycogénose musculaire Glykogenose, muskuläre Muscular glycogenosis hrdo:pat_id_18555 251900 251945 D017240 10027710 neant 206966 16851005 C0162670 group of phenomes Miopatia mitocondrial Miopatia mitocondriale Miopatía mitocondrial Mitochondrial myopathy Mitochondriale Myopathie Myopathie mitochondriale hrdo:pat_id_18556 D020967 10028658 neant G71.1 206970 193237003 C0553604 group of phenomes Myotones Syndrom Myotonic syndrome Sindrome miotonica Syndrome myotonique Síndrome miotónico Síndrome miotónico hrdo:pat_id_18557 neant G71.1 206973 group of phenomes Congenital myotonia Miotonia congenita Miotonia congénita Miotonía congénita Myotonie congénitale Myotonie, kongenitale hrdo:pat_id_18558 D010245 10016208 neant G72.3 206976 198030008 267607008 C0030443 C1279412 group of phenomes Paralisi periodica Paralisia periódica Paralysie périodique Parálisis periódica Periodic paralysis Periodische Paralyse hrdo:pat_id_18559 10058957 206979 C1142447 group of phenomes Granulomatous myositis Miosite granulomatosa Miosite granulomatosa Miositis granulomatosa Myosite granulomateuse Myositis, granulomatöse hrdo:pat_id_18560 206982 group of phenomes Muscular tumor Muskeltumor Tumeur musculaire Tumor muscular Tumor muscular Tumore muscolare hrdo:pat_id_18561 206985 group of phenomes Drug and/or toxic myopathy Miopatia di natura farmacologica e/o tossica Miopatia medicamentosa e/ou tóxica Miopatía tóxica y/o por medicamentos Myopathie médicamenteuse et/ou toxique Myopathie, durch Pharmaka oder Toxine induziert hrdo:pat_id_18562 neant M60.0 206988 group of phenomes Infectious, fungal or parasitic myopathy Miopatia fúngica ou parasítica, infecciosa Miopatia infettiva, fungina o parassitaria Miopatía infecciosa, fúngica o parasítica Myopathie bei infektiösen und parasitären Krankheiten Myopathie infectieuse, fongique ou parasitaire hrdo:pat_id_18563 10051512 neant M60.0 206991 240105009 C0150005 disease Miosite viral Miosite virale Miositis viral Myosite virale Myositis, virale Viral myositis hrdo:pat_id_18564 neant M60.0 206994 disease Bacterial myositis Miosite bacteriológica Miosite batterica Miositis bacteriana Myosite bactérienne Myositis, bakterielle hrdo:pat_id_18565 neant M60.0 206997 60970005 C0263997 group of phenomes Miosite parassitaria Miosite por parasita Miositis parasítica Myosite parasitaire Myositis, parasitäre Parasitic myositis hrdo:pat_id_18566 neant M60.0 207000 240111007 C0410251 disease Fungal myositis Miosite fungina Miosite fúngica Miositis fúngica Myosite fongique Myositis bei Pilzerkrankungen hrdo:pat_id_18567 10028643 neant G73.5* 207003 57958006 C0494507 group of phenomes Endocrine myopathy Miopatia endocrina Miopatia endócrina Miopatía endocrina Myopathie endocrinienne Myopathie, endokrine hrdo:pat_id_18568 neant G72.8 207006 group of phenomes Acquired amyloid myopathy Amyloidmyopathie, erworbene Miopatia amiloide acquisita Miopatia amilóide adquirida Miopatía amiloide adquirida Myopathie amyloïde acquise hrdo:pat_id_18569 neant G72.8 207009 group of phenomes Acquired rod-body myopathy Miopatia acquisita con corpi a bastoncello Miopatia de corpos cilíndricos, adquirida Miopatía de los bastones adquirida Myopathie à bâtonnets acquise Stäbchenkörpermyopathie, erworbene hrdo:pat_id_18570 207012 group of phenomes Amyotrophie spinale associée à une malformation du système nerveux central Atrofia muscolare spinale associata ad alterazione del sistema nervoso centrale Atrofia muscular espinal asociada con anomalías del sistema nervioso central Atrofia muscular espinhal associada a anomalia do sistema nervoso central Spinal muscular atrophy associated with central nervous system anomaly Spinale Muskelatrophie mit assoziierten Anomalien des ZNS hrdo:pat_id_18571 207015 group of phenomes Doença rara hereditária com neuropatia periférica Enfermedad rara hereditaria con neuropatía periférica Maladie rare héréditaire avec neuropathie périphérique Malattia ereditaria rara con neuropatia periferica Rare hereditary disease with peripheral neuropathy Seltene Erbkrankheit mit peripherer Neuropathie hrdo:pat_id_18572 207018 group of phenomes Doença rara hereditária metabólica com neuropatia periférica Enfermedad metabólica rara hereditaria con neuropatía periférica Maladie métabolique héréditaire avec neuropathie périphérique Malattia metabolica ereditaria rara con neuropatia periferica Rare hereditary metabolic disease with peripheral neuropathy Seltene hereditäre Stoffwechelkrankheit nit peripherer Neuropathie hrdo:pat_id_18573 207021 group of phenomes Doença rara hereditária sistémica com neuropatia periférica Enfermedad sistémica rara hereditaria con neuropatía periférica Maladie systémique héréditaire avec neuropathie périphérique Malattia sistemica ereditaria rara con neuropatia periferica Rare hereditary systemic disease with peripheral neuropathy Seltene hereditäre systemische Krankheit mit peripherer Neuropathie hrdo:pat_id_18574 207025 group of phenomes Doença rara hereditária neurológica com neuropatia periférica Enfermedad neurológica rara hereditaria con neuropatía periférica Maladie neurologique héréditaire avec neuropathie périphérique Malattia neurologica ereditaria rara con neuropatia periferica Rare hereditary neurologic disease with peripheral neuropathy Seltene erbliche neurologische Krankheit mit peripherer Neuropathie hrdo:pat_id_18575 neant G60.2 207028 group of phenomes Atassia cerebellare con neuropatia periferica Ataxia cerebelosa com neuropatia periférica Ataxia cerebelosa con neuropatía periférica Ataxie cerebelleuse avec neuropathie périphérique Cerebellar ataxia with peripheral neuropathy Kleinhirnataxie mit peripherer Neuropathie hrdo:pat_id_18576 207031 group of phenomes Corpus callosum-Agenesie mit assoziierter peripherer Neuropathie Doença rara com agenesia do corpo caloso associada com neuropatia periférica Enfermedad rara con agenesia del cuerpo calloso asociado con una neuropatía periférica Maladie rare avec agénésie du corps calleux associé à une neuropathie périphérique Malattia rara con agenesia del corpo calloso associata a neuropatia periferica Rare disease with corpus callosum agenesis associated with peripheral neuropathy hrdo:pat_id_18577 207038 group of phenomes Acute and subacute inflammatory demyelinating polyradiculoneuropathy Poliradicoloneuropatia demielinizzante infiammataria acuta e subacuta Polirradiculoneuropatía desmielinizante inflamatoria aguda y subaguda Polyradikuloneuropathie, demyelinisierende entzündliche, akute oder subakute Acute and subacute inflammatory demyelinating polyneuropathy Polineuropatia demielinizzante infiammatoria acuta e subacuta Polineuropatia desmielinizante inflamatória aguda e subaguda Polineuropatía desmielinizante inflamatoria aguda y subaguda Polyneuropathie dysimmunitaire aigue et subaigue Polyneuropathie, demyelinisierende inflammatorische, akute oder subakute hrdo:pat_id_18579 207046 group of phenomes Linfoma maligno Linfoma maligno associato a neuropatia periferica Linfoma maligno con neuropatía periférica Lymphom, malignes, mit peripherer Neuropathie Lymphome malin avec neuropathie périphérique Malignant lymphoma with peripheral neuropathy hrdo:pat_id_1858 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 129810 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=split-hand/split-foot+ectodermal+dysplasia+normal+lip 1888 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 EEC syndrome sans fente labiopalatine EEC syndrome without cleft lip/palate EEC-Syndrome ohne Lippen-Kiefer-Gaumen-Spalte Sindrome EEC senza labiopalatoschisi Síndrome EEC sem fenda lábio-palatina Ectrodactilia - displasia ectodérmica Ectrodactilia - displasia ectodérmica Ectrodactylie - dysplasie ectodermique sans fente labiopalatine Ectrodactyly - ectodermal dysplasia without clefting Ectrodattilia - displasia ectodermica senza labiopalatoschisi Ektrodaktylie - ektodermale Dysplasie ohne Lippen-Kiefer-Gaumen-Spalte hrdo:pat_id_18580 207049 group of phenomes Alterazioni quantitative o qualitative delle proteine nelle malattie neuromuscolari Anomalie qualitative ou quantitative des protéines dans les maladies neuromusculaires Anomalías cualitativas o cuantitativas de proteínas en enfermedades neuromusculares Deficiências qualitativas ou quantitativas proteicas em doenças neuromusculares Qualitative oder quantitative Protein-Defekte bei Neuromuskulären Krankheiten Qualitative or quantitative protein defects in neuromuscular diseases hrdo:pat_id_18581 207052 group of phenomes Sarcoglicanopatia Sarcoglicanopatía Sarcoglycanopathie Sarcoglycanopathy Sarkoglykanopathie Alterazioni qualitative o quantitative dei sarcoglicani Anomalie qualitative ou quantitative des sarcoglycanes Anomalías cualitativas o cuantitativas de sarcoglicanos Deficiências qualitativas ou quantitativas de sarcoglicano Qualitative or quantitative defects of sarcoglycan Sarkoglycan, qualitative oder quantitative Defekte hrdo:pat_id_18582 207060 group of phenomes Alpha-Sarkoglycan, qualitative oder quantitative Defekte Alterazioni qualitative o quantitative dell'alfa-sarcoglicano Anomalie qualitative ou quantitative de l'alpha-sarcoglycane Anomalías cualitativas o cuantitativas de alfa-sarcoglicano Deficiências qualitativas ou quantitativas de alfa-sarcoglicano Qualitative or quantitative defects of alpha-sarcoglycan hrdo:pat_id_18583 207063 group of phenomes Anomalie qualitative ou quantitative du béta-sarcoglycane Beta-Sarkoglycan, qualitative oder quantitative Defekte Deficiências qualitativas ou quantitativas do beta-sarcoglicano Qualitative or quantitative defects of beta-sarcoglycan Qualitative or quantitative defects of beta-sarcoglycan Qualitative or quantitative defects of beta-sarcoglycan hrdo:pat_id_18584 207067 group of phenomes Anomalie qualitative ou quantitative du gamma-sarcoglycane Deficiências qualitativas ou quantitativas do gama-sarcoglicano Gamma-Sarkoglycan, qualitative oder quantitative Defekte Qualitative or quantitative defects of gamma-sarcoglycan Qualitative or quantitative defects of gamma-sarcoglycan Qualitative or quantitative defects of gamma-sarcoglycan hrdo:pat_id_18585 207070 group of phenomes Anomalie qualitative ou quantitative du delta-sarcoglycane Deficiências qualitativas ou quantitativas do delta-sarcoglicano Delta-Sarkoglycan, qualitative oder quantitative Defekte Qualitative or quantitative defects of delta-sarcoglycan Qualitative or quantitative defects of delta-sarcoglycan Qualitative or quantitative defects of delta-sarcoglycan hrdo:pat_id_18586 207073 group of phenomes Dysferlinopathie Dysferlinopathy Anomalie qualitative ou quantitative de la dysferline Deficiências qualitativas ou quantitativas da disferlina Dysferlin, qualitative oder quantitative Defekte Qualitative or quantitative defects of dysferlin Qualitative or quantitative defects of dysferlin Qualitative or quantitative defects of dysferlin hrdo:pat_id_18587 207078 group of phenomes Caveolinopathy Cavéolinopathie Anomalie qualitative ou quantitative de la cavéoline-3 Caveolin-3, qualitative oder quantitative Defekte Deficiências qualitativas ou quantitativas da caveolina-3 Qualitative or quantitative defects of caveolin-3 Qualitative or quantitative defects of caveolin-3 Qualitative or quantitative defects of caveolin-3 hrdo:pat_id_18588 207085 group of phenomes Dystrophinopathie Dystrophinopathy Anomalie qualitative ou quantitative de la dystrophine Deficiências qualitativas ou quantitativas da distrofina Dystrophin, qualitative oder quantitative Defekte Qualitative or quantitative defects of dystrophin Qualitative or quantitative defects of dystrophin Qualitative or quantitative defects of dystrophin hrdo:pat_id_18589 207090 group of phenomes Anomalie qualitative ou quantitative du collagène 6 Deficiências qualitativas ou quantitativas do colagéneo-6 Kollagen 6, qualitative oder quantitative Defekte Qualitative or quantitative defects of collagen 6 Qualitative or quantitative defects of collagen 6 Qualitative or quantitative defects of collagen 6 hrdo:pat_id_1859 129830 Q87.8 1889 malformation syndrome ECP syndrome ECP syndrome ECP, síndrome ECP-Syndrom Sindrome ECP Syndrom der Ektrodaktylie und Gaumenspalte Síndrome ECP Ectrodactilia - fisura palatina Ectrodactylie - fente palatine Ectrodactyly - cleft palate Ectrodattilia - palatoschisi Ektrodaktylie - Gaumenspalte Síndrome de ectrodactilia - fenda palatina hrdo:pat_id_18590 207094 group of phenomes Anomalie qualitative ou quantitative de la mérosine Deficiências qualitativas ou quantitativas da merosina Merosin, qualitative oder quantitative Defekte Qualitative or quantitative defects of merosin Qualitative or quantitative defects of merosin Qualitative or quantitative defects of merosin hrdo:pat_id_18591 207098 group of phenomes Integrinopathy Intégrinopathie Anomalie qualitative ou quantitative de l'intégrine alpha 7 Deficiências qualitativas ou quantitativas da integrina alfa-7 Integrin alpha-7, qualitative oder quantitative Defekte Qualitative or quantitative defects of integrin alpha-7 Qualitative or quantitative defects of integrin alpha-7 Qualitative or quantitative defects of integrin alpha-7 hrdo:pat_id_18592 207101 group of phenomes Anomalie qualitative ou quantitative du perlecan Deficiências qualitativas ou quantitativas do perlecano Perlecan, qualitative oder quantitative Defekte Qualitative or quantitative defects of perlecan Qualitative or quantitative defects of perlecan Qualitative or quantitative defects of perlecan hrdo:pat_id_18593 207104 group of phenomes Anomalie qualitative ou quantitative de la calpaïne Calpaïn, qualitative oder quantitative Defekte Deficiências qualitativas ou quantitativas de calpaïn Qualitative or quantitative defects of calpain Qualitative or quantitative defects of calpaïn Qualitative or quantitative defects of calpaïn hrdo:pat_id_18594 207107 group of phenomes Anomalie qualitative ou quantitative de la TRIM32 Deficiências qualitativas ou quantitativas de TRIM32 Qualitative or quantitative defects of TRIM32 Qualitative or quantitative defects of TRIM32 Qualitative or quantitative defects of TRIM32 TRIM32, qualitative oder quantitative Defekte hrdo:pat_id_18595 207110 group of phenomes Anomalie qualitative ou quantitative de la myotubularine Deficiências qualitativas ou quantitativas da miotubularina Myotubularin, qualitative oder quantitative Defekte Qualitative or quantitative defects of myotubularin Qualitative or quantitative defects of myotubularin Qualitative or quantitative defects of myotubularin hrdo:pat_id_18596 207113 group of phenomes Alpha-dystroglycanopathie Alpha-dystroglycanopathy Dystroglycanopathie Dystroglycanopathy Anomalie qualitative ou quantitative de protéines impliquées dans la O-glycosylation de l'alpha-dystroglycane Deficiências qualitativas ou quantitativas da proteína envolvida na O-glicosilação do alfa-distroglicano Proteine der O-Glykosylierung des alpha-Dystroglycan, qualitative oder quantitative Defekte Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan hrdo:pat_id_18597 207119 group of phenomes Anomalie qualitative ou quantitative de la FKRP Deficiências qualitativas ou quantitativas de FKRP FKRP, qualitative oder quantitative Defekte Qualitative or quantitative defects of FKRP Qualitative or quantitative defects of FKRP Qualitative or quantitative defects of FKRP hrdo:pat_id_18598 207122 group of phenomes Anomalie qualitative ou quantitative de la fukutine Deficiências qualitativas ou quantitativas de fukutina Fukutin, qualitative oder quantitative Defekte Qualitative or quantitative defects of fukutin Qualitative or quantitative defects of fukutin Qualitative or quantitative defects of fukutin hrdo:pat_id_1860 246555 1891 malformation syndrome Jancar syndrome Jancar, síndrome de Jancar-Syndrom Sindrome di Jancar Syndrome de Jancar Síndrome de Jancar Atraso mental - espasticidade - ectrodactilia Ectrodactilia - paraplejia espástica - déficit intelectual Ectrodactylie - paraplégie spastique - déficit intellectuel Ectrodattilia - paraplegia spastica - ritardo mentale Ektrodaktylie - spastische Paraplegie - geistige Retardierung Intellectual deficit - spasticity - ectrodactyly hrdo:pat_id_18604 612691 neant Q04.3 208441 clinical subtype Bilateral parasagittal parieto-occipital polymicrogyria Polimicrogiria parieto-occipital parassagital bilateral Polimicrogiria parieto-occipitale parasagittale bilaterale Polimicrogiria parietooccipital parasagital bilateral Polymicrogyrie pariéto-occipitale parasagittale bilatérale Polymikrogyrie, bilaterale parasagittale parieto-okzipitale hrdo:pat_id_18605 neant Q04.3 208444 clinical subtype Bilateral frontal polymicrogyria Polimicrogiria bilateral frontal Polimicrogiria frontal bilateral Polimicrogiria frontale bilaterale Polymicrogyrie frontale bilatérale Polymikrogyrie, bilaterale frontale hrdo:pat_id_18606 614833 neant Q04.3 208447 clinical subtype Bilateral generalized polymicrogyria Polimicrogiria bilateral generalizada Polimicrogiria generalizada bilateral Polimicrogiria generalizzata bilaterale Polymicrogyrie généralisée bilatérale Polymikrogyrie, bilaterale generalisierte hrdo:pat_id_18607 164500 neant G11 208508 group of phenomes ADCA2 ADCA2 ADCA2 ADCA2 ADCA2 ADCA2 ADCAII ADCAII ADCAII ADCAII Atassia cerebellare, autosomica dominante, tipo II Ataxia cerebelosa autosómica dominante tipo II Ataxie cérébelleuse autosomique dominante type II Autosomal dominant cerebellar ataxia type II Atassia cerebellare, autosomica dominante, tipo 2 Ataxia cerebelosa autossómica dominante, tipo 2 Ataxia cerebelosa autosómica dominante tipo 2 Ataxie cérébelleuse autosomique dominante type 2 Ataxie, zerebelläre, autosomal-dominante, Typ 2 Autosomal dominant cerebellar ataxia type 2 hrdo:pat_id_18608 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 117360 neant G11 208513 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atassia spinocerebellare non progressiva congenita Ataxia espinocerebelosa congénita não progressiva Ataxia espinocerebelosa no progresiva congénita Ataxie spinocérébelleuse non progressive congénitale Congenital nonprogressive spinocerebellar ataxia SCA29 SCA29 SCA29 SCA29 SCA29 SCA29 Atassia spinocerebellare, tipo 29 Ataxia espinocerebelosa tipo 29 Ataxia espinocerebelosa tipo 29 Ataxie spinocérébelleuse type 29 Ataxie, spinozerebelläre, Typ 29 Spinocerebellar ataxia type 29 hrdo:pat_id_18609 neant L10.2 208524 disease Herpetiform pemphigus Pemfigo erpetiforme Pemphigus herpetiformis Pemphigus herpétiforme Pénfigo herpetiforme Pênfigo herpetiforme hrdo:pat_id_1861 225290 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28ectrodactyly%5Bti%5D+OR+ectromelia%5Bmajr%5D%29+%28polydactyly%5Bmajr%5D+OR+polydactyl*%5Bti%5D%29+humans Q74.8 1892 malformation syndrome Ectrodactilia - polidactilia Ectrodactilia polidactilia Ectrodactylie - polydactylie Ectrodactyly - polydactyly Ectrodattilia - polidattilia Ektrodaktylie - Polydaktylie hrdo:pat_id_18610 208593 group of phenomes Genetic hypoparathyroidism Hipoparatiroidismo genético Hipoparatiroidismo genético Hypoparathyreoidismus, genetisch bedingter Hypoparathyroïdie génétique Ipoparatiroidismo genetico hrdo:pat_id_18611 208596 group of phenomes Genetic hyperparathyroidism Hiperparatiroidismo genético Hiperparatiroidismo genético Hyperparathyreoidismus, genetisch bedingter Hyperparathyroïdie génétique Iperparatiroidismo genetico hrdo:pat_id_18612 208600 disease Cardiac papillary fibroelastoma Fibroelastom, kardiales papilläres Fibroelastoma papilar cardíaco Fibroelastoma papillare cardiaco Fibroélastome papillaire cardiaque Fibroelastoma papilar del corazón Fibroelastoma papilar do coração Fibroelastoma papillare del cuore Fibroélastome papillaire du coeur Papillary fibroelastoma of the heart Papilläres Fibroelastom des Herzens hrdo:pat_id_18613 D056587 10068850 208650 430079001 C2316212 group of phenomes 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 CAPS CAPS Maladie auto-inflammatoire associée à la cryopyrine Cryopyrin-associated periodic syndrome Cryopyrin-associated periodic syndrome Cryopyrin-assoziiertes periodisches Syndrom Syndrome périodique associé à la cryopyrine Síndrome periódico asociado a la criopirina Síndrome periódico associado à criopirina hrdo:pat_id_18614 208974 group of phenomes CADP CADP CADP CADP Chronic acquired demyelinating polyneuropathy Polineuropatia demielinizzante cronica acquisita Polineuropatia desmielinizante adquirida crónica Polineuropatía desmielinizante crónica adquirida Polyneuropathie dysimmunitaire chronique Polyneuropathie, erworbene demyelinisierende inflammatorische hrdo:pat_id_18615 neant G61.8 208978 group of phenomes Chronic polyradiculoneuropathy Poliradicoloneuropatia cronica Polirradiculoneuropatia crónica Polirradiculoneuropatía crónica Polyradiculonévrite chronique Polyradikuloneuropathie, chronische hrdo:pat_id_18616 neant G61.8 208981 disease Poliradiculoneuropatia associada a gamopatia monoclonal IgG/IgA/IgM sem anticorpos conhecidos Poliradiculoneuropatia associata a gammopatia monoclonale IgG/IgA/IgM senza anticorpi conosciuti Polirradiculoneuropatía asociada con gammopatía monoclonal IgG/IgA/IgM sin anticuerpos conocidos Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies Polyradiculonévrite avec gammopathie monoclonale IgG/IgA/IgM sans activité anticorps connue Polyradikuloneuropathie mit assoziierter IgG/IgM/IgA monoklonaler Gammopathie ohne bekannte Antikörper hrdo:pat_id_18617 208984 group of phenomes Acquired sensory neuronopathy Neuronopathie sensitive acquise Neuropathie, erworbene sensorische Neuropatia sensitiva acquisita Neuropatía sensitiva adquirida Acquired sensory ganglionopathy Ganglionopathie sensitive acquise Ganglionopathie, erworbene sensorische Ganglionopatia sensitiva acquisita Ganglionopatia sensitiva adquirida Ganglionopatía sensitiva adquirida hrdo:pat_id_18618 208989 group of phenomes Neuronopathie sensitive non paranéoplasique Neuronopathie, sensorische, nicht-paraneoplastische Neuropatia sensitiva non paraneoplastica Neuropatía sensitiva no paraneoplásica Non-paraneoplastic sensory neuronopathy Ganglionopathie sensitive non paranéoplasique Ganglionopathie, sensorische, nicht-paraneoplastische Ganglionopatia sensitiva non paraneoplastica Ganglionopatia sensitiva não-paraneoplásica Ganglionopatía sensitiva no paraneoplásica Non-paraneoplastic sensory ganglionopathy hrdo:pat_id_18619 208994 group of phenomes Altra neuronopatia legata a malattie autoimmuni Autre neuronopathie des maladies autoimmunes Other neuronopathy related to autoimmune diseases Otra neuropatía ligada a enfermedades autoinmunes Sonstige Neuropathie mit autoimmuner Störung Altra ganglionopatia legata a malattie autoimmuni Autre ganglionopathie des maladies autoimmunes Other ganglionopathy related to autoimmune diseases Otra ganglionopatía ligada a enfermedades autoinmunes Outra ganglionopatia relacionada com doenças autoimunes Sonstige Ganglionopathie mit autoimmuner Störung hrdo:pat_id_18620 208999 group of phenomes Neuronopathie sensitive paranéoplasique Neuropathie, paraneoplastische sensorische Neuropatia sensitiva paraneoplastica Neuropatía sensitiva paraneoplásica Paraneoplastic sensory neuronopathy Ganglionopathie sensitive paranéoplasique Ganglionopathie, paraneoplastische sensorische Ganglionopatia sensitiva paraneoplastica Ganglionopatia sensitiva paraneoplásica Ganglionopatía sensitiva paraneoplásica Paraneoplastic sensory ganglionopathy hrdo:pat_id_18621 neant G61.8 209004 disease Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy Polineuropatia assonale associata a gammopatia monoclonale IgG/IgM/IgA Polineuropatia axonal associada a gamopatia monoclonal IgG/IgM/IgA Polineuropatía axonal asociada con gammopatía monoclonal IgG/IgA/IgM Polyneuropathie axonale avec gammopathie monoclonale IgG/IgM/IgA Polyneuropathie, axonale, mit assoziierter IgG/IgM/IgA monoklonaler Gammopathie hrdo:pat_id_18622 209007 group of phenomes Doença sistémica inflamatória associada a uma neuropatia periférica adquirida Enfermedad inflamatoria sistémica asociada con una neuropatía periférica adquirida Maladie systémique inflammatoire avec neuropathie périphérique acquise Malattia infiammatoria sistemica associata a neuropatia periferica acquisita Systemic inflammatory disease associated with an acquired peripheral neuropathy Systemische Krankheit, entzündliche, mit assoziierter erworbener peripherer Neuropathie hrdo:pat_id_18623 209010 group of phenomes Neuropathie périphérique avec gammopathie monoclonale Neuropatia periferica associata a gammopatia monoclonale Neuropatia periférica associada com gamapatia monoclonal Neuropatía periférica asociada con gammopatía monoclonal Peripheral neuropathy associated with monoclonal gammopathy Periphere Neuropathie mit assoziierter monoklonaler Gammopathie hrdo:pat_id_18624 209013 group of phenomes Acquired amyloid peripheral neuropathy Amyloid-Polyneuropathie, erworbene Neuropathie périphérique amyloïde acquise Neuropatia amilóide periférica adquirida Neuropatia periferica amiloide acquisita Neuropatía amiloide periférica adquirida hrdo:pat_id_18625 209016 group of phenomes Doença hematológica associada a uma neuropatia periférica adquirida Enfermedad hematológica asociada con una neuropatía periférica adquirida Hematological disease associated with an acquired peripheral neuropathy Hämatologische Krankheit mit erworbener peripherer Neuropathie Maladie hématologique avec neuropathie périphérique acquise Malattia ematologica associata a neuropatia periferica acquisita hrdo:pat_id_18626 209019 group of phenomes Solid tumor associated with an acquired peripheral neuropathy Solider Tumor mit assoziierter erworbener peripherer Neuropathie Tumeur solide avec neuropathie périphérique Tumor sólido asociado con una neuropatía periférica adquirida Tumor sólido associado a uma neuropatia periférica adquirida Tumore solido associato a neuropatia periferica acquisita hrdo:pat_id_18627 209024 group of phenomes Alterazioni qualitative o quantitative della proteina POMGNT1 Anomalie qualitative ou quantitative de la protéine POMGNT1 Anomalías cualitativas o cuantitativas de la proteína POMGNT1 Qualitative or quantitative defects of protein POMGNT1 Alterazioni qualitative o quantitative della proteina O-mannosio beta1,2N-acetil glucosamina transferasi Anomalie qualitative ou quantitative de la protéine O-mannose béta1,2N-acétylglucosaminyltransférase Anomalías cualitativas o cuantitativas de la proteína O-manosa beta 1,2N-N-acetilglucosamina transferasa Deficiências qualitativas e quantitativas da proteína O-manose beta1,2N-acetilglucosaminiltransferase Protein-O-Mannose-?-1,2-N-acetylglucosaminyl-Transferase, qualitative oder quantitative Defekte Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase hrdo:pat_id_18628 209027 group of phenomes Alterazioni qualitative o quantitative della proteina glicosiltransferasi-like Anomalie qualitative ou quantitative de la protéine glycosyltransférase-like Anomalías cualitativas o cuantitativas de la proteína glicosiltransferasa-like Deficiências qualitativas e quantitativas da proteína glicosiltransferase-like Glycosyltransferase-like Protein (LARGE-Gen), qualitative oder quantitative Defekte Qualitative or quantitative defects of protein glycosyltransferase-like hrdo:pat_id_18629 209030 group of phenomes Alterazioni qualitative o quantitative della proteina O-mannosil-transferasi 1 Anomalie qualitative ou quantitative de la protéine O-mannosyltransférase 1 Anomalías cualitativas o cuantitativas de la proteína O-manosiltransferasa 1 Deficiências qualitativas e quantitativas da proteína O-manosiltransferase 1 Protein-O-mannosyltransferase 1, qualitative oder quantitative Defekte Qualitative or quantitative defects of protein O-mannosyltransferase 1 hrdo:pat_id_1863 129850 neant Q95.2 1895 malformation syndrome Fehlbildungssyndrom Edinburgh Edinburgh malformation syndrome Edinburgh-Syndrom Sindrome di Edimburgo Syndrome d'Edimbourg Síndrome de Edimbourg Síndrome de malformação de Edinburgo hrdo:pat_id_18630 209033 group of phenomes Alterazioni qualitative o quantitative della proteina O-mannosil-transferasi 2 Anomalie qualitative ou quantitative de la protéine O-mannosyltransférase 2 Anomalías cualitativas o cuantitativas de la proteína O-manosiltransferasa 2 Deficiências qualitativas e quantitativas da proteína O-manosiltransferase 2 Protein-O-mannosyltransferase 2, qualitative oder quantitative Defekte Qualitative or quantitative defects of protein O-mannosyltransferase 2 hrdo:pat_id_18631 209038 group of phenomes Alterazioni qualitative o quantitative delle proteine miofibrillari Anomalie qualitative ou quantitative des protéines myofibrillaires Anomalías cualitativas o cuantitativas de proteínas miofibrilares Deficiências qualitativas e quantitativas de proteína miofibrilares Myofibrilläres Protein, qualitative oder quantitative Defekte Qualitative or quantitative defects of myofibrillar proteins hrdo:pat_id_18632 209041 group of phenomes Alterazioni qualitative o quantitative di desmina Anomalie qualitative ou quantitative de la desmine Anomalías cualitativas o cuantitativas de desmina Deficiências qualitativas e quantitativas de desmina Desmin, qualitative oder quantitative Defekte Qualitative or quantitative defects of desmin hrdo:pat_id_18633 209044 group of phenomes Alpha B-Crystallin, qualitative oder quantitative Defekte Alterazioni qualitative o quantitative di alfa B-cristallina Anomalie qualitative ou quantitative de l'alphaB-cristalline Anomalías cualitativas o cuantitativas de alfaB-cristalina Deficiências qualitativas e quantitativas da alfaB-cristalina Qualitative or quantitative defects of alphaB-cristallin hrdo:pat_id_18634 209047 group of phenomes Alterazioni qualitative o quantitative di filamina C Anomalie qualitative ou quantitative de la filamine C Anomalías cualitativas o cuantitativas de filamina C Deficiências qualitativas e quantitativas de filamina C Filamin C, qualitative oder quantitative Defekte Qualitative or quantitative defects of filamin C hrdo:pat_id_18635 209050 group of phenomes Alterazioni qualitative o quantitative della proteina ZASP Anomalie qualitative ou quantitative de la protéine ZASP Anomalías cualitativas o cuantitativas de proteína ZASP Deficiências qualitativas e quantitativas da proteina ZASP Qualitative or quantitative defects of protein ZASP ZASP-Protein, qualitative oder quantitative Defekte hrdo:pat_id_18636 209053 group of phenomes Alterazioni qualitative o quantitative di titina Anomalie qualitative ou quantitative de la titine Anomalías cualitativas o cuantitativas de titina Deficiências qualitativas e quantitativas de titina Qualitative or quantitative defects of titin Titin, qualitative oder quantitative Defekte hrdo:pat_id_18637 209056 group of phenomes Alterazioni qualitative o quantitative di telethonina Anomalie qualitative ou quantitative de la téléthonine Anomalías cualitativas o cuantitativas de teletonina Deficiências qualitativas e quantitativas de teletonina Qualitative or quantitative defects of telethonin Telethonin, qualitative oder quantitative Defekte hrdo:pat_id_18638 209059 group of phenomes Alterazioni qualitative o quantitative di alfa-actina Anomalie qualitative ou quantitative de l'alpha-actine Anomalías cualitativas o cuantitativas de alfa-actina Apha-Aktinin, qualitative oder quantitative Defekte Deficiências qualitativas e quantitativas da alfa-actina Qualitative or quantitative defects of alpha-actin hrdo:pat_id_18639 209182 group of phenomes Alterazioni qualitative o quantitative di nebulina Anomalie qualitative ou quantitative de la nébuline Anomalías cualitativas o cuantitativas de nebulina Deficiências qualitativas e quantitativas de nebulina Nebulin, qualitative oder quantitative Defekte Qualitative or quantitative defects of nebulin hrdo:pat_id_1864 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 129900 604292 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=EEC+syndrome%5Btw%5D+OR+%28Ectrodactyly+ectodermal+dysplasia+cleft*+syndrome%29 Q82.4 1896 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Ectrodactilia - displasia ectodérmica - fenda lábio-palatina Ectrodactilia - displasia ectodérmica - fisura labiopalatina Ectrodactylie - dysplasie ectodermique - fente labiopalatine Ectrodactyly - ectodermal dysplasia - cleft lip/palate Ectrodattilia - displasia ectodermica - labiopalatoschisi Ektrodaktylie - ektodermale Dysplasie - Lippen-Kiefer-Gaumen-Spalte EEC syndrome EEC-Syndrom Sindrome EEC Syndrome EEC Síndrome EEC Síndrome EEC hrdo:pat_id_18640 209185 group of phenomes Alterazioni qualitative o quantitative della catena pesante della beta-miosina (MYH7) Anomalie qualitative ou quantitative de la chaîne lourde béta de la myosine (MYH7) Anomalías cualitativas o cuantitativas de la cadena pesada de la beta-miosina (MYH7) Beta-Myosinschwerkette (MYH7), qualitative oder quantitative Defekte Deficiências qualitativas e quantitativas da cadeia pesada de beta-miosina (MYH7) Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) hrdo:pat_id_18641 209188 group of phenomes Emerinopatia Anomalie qualitative ou quantitative de l'émerine Anomalías cualitativas o cuantitativas de la emerina Deficiências qualitativas e quantitativas de emerina Difetti qualitativi o quantitativi dell'emerina Emerin, qualitative oder quantitative Defekte Qualitative or quantitative defects of emerin hrdo:pat_id_18642 209193 group of phenomes Alterazioni qualitative o quantitative della selenoproteina N1 Anomalie qualitative ou quantitative de la sélénoprotéine N1 Anomalías cualitativas o cuantitativas de selenoproteína N1 Deficiências qualitativas e quantitativas de selenoproteína N1 Qualitative or quantitative defects of selenoprotein N1 Selenoprotein N1, qualitative oder quantitative Defekte hrdo:pat_id_18643 209196 group of phenomes Alterazioni qualitative o quantitative di plectina Anomalie qualitative ou quantitative de la plectine Anomalías cualitativas o cuantitativas de plectina Deficiências qualitativas e quantitativas de plectina Plektin, qualitative oder quantitative Defekte Qualitative or quantitative defects of plectin hrdo:pat_id_18644 209199 group of phenomes Alterazioni qualitative o quantitative della proteina SERCA1 Anomalie qualitative ou quantitative de la protéine SERCA1 Anomalías cualitativas o cuantitativas de la proteína SERCA1 Deficiências qualitativas e quantitativas da proteína SERCA1 Qualitative or quantitative defects of protein SERCA1 SERCA1-Protein, qualitative oder quantitative Defekte hrdo:pat_id_18645 209203 group of phenomes Alterazioni qualitative o quantitative della glucosamina (UDP-N-acetil)-2-epimerasi/N-acetilmannosamina chinasi Anomalie qualitative ou quantitative de la glucosamine (UDP-N-acétyl)-2-épimérase/N-acétylmannosamine kinase - Anomalías cualitativas o cuantitativas de UDP-N-acetilglucosamina-2-epimerasa//N-acetilmanosamina quinasa Deficiências qualitativas e quantitativas de glucosamine (UDP-N-acetil)-2-epimerase/N-acetilmanosamine quinase Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - UDP-N-Acetylglucosamin-2-Epimerase/N-Acetylmannosamin-Kinase, qualitative oder quantitative Defekte hrdo:pat_id_18646 209224 group of phenomes Alterazioni qualitative o quantitative di miotilina Anomalie qualitative ou quantitative de la myotiline Anomalías cualitativas o cuantitativas de miotilina Deficiências qualitativas e quantitativas de miotilina Myotilin, qualitative oder quantitative Defekte Qualitative or quantitative defects of myotilin hrdo:pat_id_1865 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 225280 Q87.8 1897 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia ectodermica - ectrodattilia - distrofia maculare Displasia ectodérmica - ectrodactilia - distrofia da mácula Displasia ectodérmica - ectrodactilia - distrofia macular Dysplasie ectodermique - ectrodactylie - dystrophie maculaire Dysplasie, ektodermale - Ektrodaktylie - Makuladystrophie Ectodermal dysplasia - ectrodactyly - macular dystrophy EEM syndrome EEM-Syndrom Sindrome EEM Syndrome EEM Síndrome EEM Síndrome EEM hrdo:pat_id_18654 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 182980 neant G12.1 209335 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Enfermedad de Finkel Finkel disease Finkel-Krankheit Maladie de Finkel Malattia di Finkel Adult-onset proximal spinal muscular atrophy, autosomal dominant Amyotrophie spinale proximale autosomique dominante de l'adulte Atrofia muscolare spinale prossimale, autosomica dominante, a esordio nell'età adulta Atrofia muscular espinal proximal de aparición en adultos, autosómica dominante Atrofia muscular espinhal proximal, autossómica dominante, de apresentação no adulto Spinale Muskelatrophie, proximale, autosomal-dominante, des Erwachsenen hrdo:pat_id_18655 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 158600 neant G12.1 209341 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Amyotrophie spinale proximale juvénile autosomique dominante Atrofia muscolare spinale giovanile, autosomica dominante Atrofia muscular espinal juvenil, autosómica dominante Enfermedad de Kugelberg-Welander, autosómica dominante Juvenile spinal muscular atrophy, autosomal dominant Kugelberg-Welander disease, autosomal dominant Kugelberg-Welander-Krankheit, autosomal-dominante Maladie de Kugelberg-Welander autosomique dominante Malattia di Kugelberg-Welander, autosomica dominante Spinale Muskelatrophie, juvenile, autosomal-dominante Amyotrophie spinale proximale autosomique dominante de l'enfance Atrofia muscolare spinale prossimale, autosomica dominante, a esordio nell'infanzia Atrofia muscular espinal proximal infantil, autosómica dominante Atrofia muscular espinhal proximal, autossómica dominante, de apresentação na infância Childhood-onset proximal spinal muscular atrophy, autosomal dominant Spinale Muskelatrophie, proximale, autosomal-dominante, des Kindes hrdo:pat_id_18656 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300673 neant 209370 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Encefalopatia congenita grave da mutazione di MECP2 Encefalopatía congénita grave debido a una mutación de MECP2 Encéphalopathie congénitale sévère due à une mutation du gène MECP2 Enzephalopathy, kongenitale schwere, durch MECP2-Genmutation, Severe congenital encephalopathy due to MECP2 mutation Encefalopatia grave a esordio neonatale con microcefalia Encefalopatia grave de apresentação neo-natal com microcefalia Encefalopatía grave de aparición neonatal, autosómica dominante Encéphalopathie néonatale sévère avec microcéphalie Enzephalopathy, neonatale schwere - Mikrozephalie Severe neonatal-onset encephalopathy with microcephaly hrdo:pat_id_18662 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 609508 neant H33.0 209867 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Autosomal dominant rhegmatogenous retinal detachment Deslocamento da retina regmatogénico, autossómico dominante Desprendimiento de retina regmatógeno autosómico dominante Distacco regmatogeno della retina, autosomico dominante Décollement de la rétine rhegmatogène autosomique dominant Netzhautablösung, rhegmatogene, autosomal-dominate hrdo:pat_id_18663 Variabel Variabile Variable Variable Variable Variable Variável 162000 614227 neant 209886 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown FJHN Typ 1 FJHN associata a UMOD FJHN associé à UMOD FJHN type 1 FJHN type 1 FJHN, tipo 1 Familial juvenile gouty nephropathy Familial nephropathy with gout Gichtnephropathie, juvenile familiäre NHJF asociada a UMOD NHJF tipo 1 Nefropatia familiare con gotta Nefropatia gottosa giovanile familiare Nefropatia iperuricemica giovanile familiare associata a UMOD Nefropatía familiar con gota Nefropatía gotosa familiar juvenil Nefropatía hiperuricémica juvenil familiar asociada a UMOD Nephropathie hyperuricémique juvénile familiale associée à UMOD Nephropathie, familiäre, mit Gicht Néphropathie familiale avec goutte UMOD-associated FJHN UMOD-associated familial juvenile hyperuricemic nephropathy UMOD-assoziierte FJHN UMOD-assoziierte familiäre juvenile hyperurikämische Nephropathie Familial juvenile hyperuricemic nephropathy type 1 Nefropatia hiperuricémica juvenil familiar Nefropatia iperuricemica giovanile familiare, tipo 1 Nefropatía hiperuricémica juvenil familiar tipo 1 Nephropathie hyperuricémique juvénile familiale type 1 Nephropathie, familiäre hyperurikämische juvenile, Typ 1 hrdo:pat_id_18664 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant E07.8 209893 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-dominant X-chromosomal-rezessiv X-linked dominant X-linked dominant X-linked recessive X-linked recessive disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Congenital isolated TBG deficiency Deficit congenito isolato di TBG Déficit congénital isolé en TBG Déficit congénito aislado de TBG TBG-Mangel, kongenitaler Congenital isolated thyroxine-binding globulin deficiency Deficit congenito isolato di globuline leganti la tiroxina Deficiência de globulina de ligação de tiroxina, congénita Déficit congénital isolé en thyroxine-binding globuline Déficit congénito aislado de la globulina de unión a la tiroxina Thyroxinbindendes Globulin, kongenitaler Mangel hrdo:pat_id_18665 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant E78.0 209902 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hipercolesterolemia debido a deficiencia de colesterol 7-alfa-hidroxilasa Hipercolesterolemia por deficiência da colesterol 7alfa-hidroxilase Hypercholesterinämie durch Cholesterol 7-alpha-Hydroxylase-Mangel Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency Hypercholestérolémie due au déficit en cholesterol 7alpha-hydroxylase Ipercolesterolemia da deficit di colesterolo 7alfa-idrossilasi hrdo:pat_id_18666 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 610978 neant E03.1 P22.8 209905 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Choreoathetose - Hypothyreose - neonatale Atemnot Choreoathetosis - hypothyroidism - neonatal respiratory distress Choréoathétose - hypothyroïdie - détresse respiratoire néonatale Coreoatetosi - ipotiroidismo - distress respiratorio neonatale Coreoatetosis - hipotiroidismo - dificultad respiratoria neonatal Brain-lung-thyroid syndrome Coreoatetose - hipotiroidismo - dificuldade respiratória neonatal Hirn-Lunge-Schilddrüsen-Syndrom Sindrome cervello-polmone-tiroide Syndrome cerveau-poumon-thyroïde Síndrome cerebro-pulmón-tiroides hrdo:pat_id_18667 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 602081 neant 209908 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CAS Developmental verbal dyspraxia Disprassia verbale dell'età evolutiva Dispraxia verbal Disturbo del linguaggio con disprassia orofacciale Speech and language disorder with orofacial dyspraxia Speech-language disorder type 1 Sprech- und Sprachstörungen mit orofazialer Dyspraxie Trastorno del habla y del lenguaje con dispraxia orofacial Trouble du langage oral avec dyspraxie orofaciale Trouble du langage oral de type 1 Verbale Entwicklungsdyspraxie Childhood apraxia of speech Dificuldades de linguagem tipo 1 Disturbo della parola e del linguaggio, tipo 1 Dyspraxie verbale de développement Sprech- und Sprachstörungen Typ 1 Trastorno del habla y del lenguaje tipo 1 hrdo:pat_id_18668 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 612237 neant 209916 404079008 C1275278 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Chondrosarcome myxoïde extrasquelettique Chondrosarkom, extraskelettales myxoides Condrosarcoma mixoide extraesquelético Condrosarcoma mixoide extrascheletrico Condrossarcoma mixóide extra-esquelético Extraskeletal myxoid chondrosarcoma hrdo:pat_id_18669 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 215600 neant K74.6 209919 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hepatische Kupfertoxikose des Kindesalters (nicht-Wilson) Non-Wilsonian hepatic copper toxicosis of infancy and childhood Tossicosi epatica da rame non Wilsoniana del periodo neonatale e dell'infanzia Toxicose hépatique au cuivre du nourrisson et de l'enfant de type non-Wilson Toxicose hépatique cuprique du nourisson et de l'enfant de type non-Wilson Toxicose idiopathique au cuivre Toxicosis hepática por cobre no Wilson de la infancia Cirrhose idiopathique associée au cuivre Cirrose idiopática associada ao cobre Cirrosi idiopatica da rame Cirrosis idiopática asociada al cobre Idiopathic copper-associated cirrhosis Leberzirrhose, idiopatische Kupfer-assoziierte hrdo:pat_id_18670 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 610356 neant H35.5 209932 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cone dystrophy with supernormal rod ERG Cone dystrophy with supernormal rod electroretinogram Cone dystrophy with supernormal scotopic electroretinogram Distrofia de conos con respuesta al electrorretinograma escotópico supranormal Distrofia de conos con respuesta supranormal de los bastones al ERG Distrofia de conos con respuesta supranormal de los bastones al electrorretinograma Distrofia dei coni con elettroretinogramma scotopico anomalo Distrofia dei coni con risposta supernormale dei bastoncelli all'elettroretinogramma Dystrophie des cônes avec réponse supranormale des batonnêts à l'éléctrorétinogramme Dystrophie des cônes avec réponse à l'ERG scotopique supranormale Dystrophie des cônes avec réponse à l'éléctrorétinogramme scotopique supranormale Zapfendystrophie mit supernormalem Ganzfeld-Elektroretinogramm Zapfendystrophie mit supernormalem Stäbchen-ERG Zapfendystrophie mit supernormalem Stäbchen-Elektroretinogramm Cone dystrophy with supernormal rod response Distrofia de conos con respuesta escotópica supranormal Distrofia dei coni con risposta supernormale dei bastoncelli Distrofia dos cones com resposta supernormal dos bastonetes Dystrophie des cônes avec réponse scotopique supranormale Zapfendystrophie mit supernormalen Stäbchen-B-Wellen hrdo:pat_id_18671 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant H35.0 209943 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Idiopathic retinal-aneurysms-neuroretinitis syndrome Idiopathische retinale Vaskulitis - Aneurysmen - Neuroretinitis Sindrome retina-aneurismi-neuroretinite idiopatica Síndrome vasculitis retiniana idiopática, aneurismas y neurorretinitis Vascularite rétinienne idiopathique - anévrysmes - neurorétinite IRVAN syndrome IRVAN-Syndrom Sindrome IRVAN Syndrome IRVAN Síndrome IRVAN Síndrome IRVAN hrdo:pat_id_18672 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 611225 neant G11.4 209951 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SPG18 SPG18 SPG18 SPG18 SPG18 Autosomal recessive spastic paraplegia type 18 Paraparésia espástica, autossómica recessiva, tipo 18 Paraplegia spastica, autosomica recessiva, tipo 18 Paraplejía espástica autosómica recesiva tipo 18 Paraplégie spastique autosomique récessive type 18 Spastische Paraplegie, autosomal-rezessive, Typ 18 hrdo:pat_id_18673 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 209956 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Idiopathic uveal effusion syndrome Sindrome idiopatica da effusione uveale Syndrome d'effusion uvéale idiopathique Síndrome de efusión uveal idiopático Síndrome derrame uveal idiopática Uveales Effusions-Syndrom, idiopathisches hrdo:pat_id_18674 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant H20.2 209959 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Endophtalmie phaco-anaphylactique Endophthalmitis phacoanaphylactica Lens-induced endophthalmitis Lens-induced iridocyclitis Lens-induced uveitis Phaco-allergic endophthalmitis Phaco-anaphylactic uveitis Phaco-antigenic endophthalmitis Phacoanaphylaxis Phako-anaphylactic endophthalmitis Uvéite antigénique Phako-anaphylactic uveitis Uveite facoanafilattica Uveitis facoanafilática Uveitis, phakoanaphylaktische Uveíte facoanafilática Uvéite phaco-anaphylactique hrdo:pat_id_18675 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant K62.6 209964 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Rektumulkus, solitärer Sindrome dell'ulcera solitaria del retto Solitary rectal ulcer syndrome Solitary-rectal-ulcer-Syndrom Syndrome de l'ulcère solitaire du rectum Síndrome de úlcera rectal solitaria Síndrome úlcera retal solitária hrdo:pat_id_18676 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 612656 neant G11.8 209967 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atassia episodica, tipo 6 Ataxia episódica tipo 6 Ataxia episódica tipo 6 Ataxie épisodique type 6 Ataxie, episodische, Typ 6 Episodic ataxia type 6 hrdo:pat_id_18677 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 611907 neant G11.8 209970 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atassia episodica, tipo 7 Ataxia episódica tipo 7 Ataxia episódica tipo 7 Ataxie épisodique type 7 Ataxie, episodische, Typ 7 Episodic ataxia type 7 hrdo:pat_id_18678 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 209973 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Benign familial nocturnal alternating hemiplegia in childhood Emiplegia alternante familiare notturna benigna dell'infanzia Hemiplejia alternante familiar nocturna benigna de la infancia Alternierende Hemiplegie des Kindesalters, beninge nächtliche Benign familial nocturnal alternating hemiplegia of childhood Emiplegia alternante familiare notturna benigna del bambino Hemiplegia alternante noturna familiar benigna da infância Hemiplejia alternante familiar nocturna benigna infantil Hémiplégie alternante nocturne familiale bénigne de l'enfance hrdo:pat_id_18679 209978 404689008 group of phenomes Alternating hemiplegia Emiplegia alternante Hemiplegia alternante Hemiplegie, alternierende Hemiplejia alternante Hémiplégie alternante hrdo:pat_id_1868 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 609442 C536525 10016524 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Fetal+valproic+syndrome+OR+%28Valproic+Acid/ae+Abnormalities%2C+Drug-Induced%29 Q86.8 1906 17231009 C0236026 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Embriofetopatia por valproato Embryopathie au valproate Esposizione prenatale all'acido valproico Exposición fetal al acido valproico Exposition anténatale au valproate Exposition anténatale à l'acide valproïque Fetal valproic acid syndrome Vaalproate antenatal infection Valproic acid antenatal infection Valproinsäure-Exposition, vorgeburtliche Embriopatia da acido valproico Embriopatía por ácido valproico Embryopathie à l'acide valproïque Fetal valproate syndrome Síndrome valproato fetal Valproat-Embryopathie hrdo:pat_id_18680 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 206200 http://www.ncbi.nlm.nih.gov/pubmed?term=IRIDA[tw]+OR+(Iron-refractory+AND+iron+deficiency+anemia)&cmd=DetailsSearch&dispmax=50&report=Abstract D50.8 209981 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anemia por deficiencia de hierro resistente al tratamiento por hierro Anemia sideropenica refrattaria al trattamento con ferro Anémie par déficit en fer réfractaire au traitement par le fer Eisenmangelanämie, eisenrefraktäre Iron-refractory iron deficiency anemia IRIDA syndrome IRIDA-Syndrom Sindrome IRIDA Syndrome IRIDA Síndrome IRIDA Síndrome IRIDA hrdo:pat_id_18681 neant C67 209989 disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Carcinoma no papilar urotelial Carcinoma uroteliale non papillare Carcinome urothélial non papillaire Non-papillary urothelial carcinoma Urotheliales Karzinom, nicht-papilläres Carcinoma no papilar de células transicionales de la vejiga Carcinoma non papillare della vescica a cellule transizionali Carcinoma não papilar das células de transição da bexiga Carcinome de la vessie à cellules transitionnelles non papillaire Harnblasenkarzinom, nicht-papilläres transitionales Non-papillary transitional cell carcinoma of the bladder hrdo:pat_id_18682 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 611497 neant Q78.2 210110 254121000 C0432261 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Autosomal recessive intermediate osteopetrosis Osteopetrosi intermedia, autosomica recessiva Osteopetrosis intermedia autosómica recesiva Osteopetrosis, intermediäre, autosomal-rezessive Ostéopetrose intermédiaire autosomique récessive Intermediate osteopetrosis Osteopetrose intermédia Osteopetrosi intermedia Osteopetrosis intermedia Osteopetrosis, intermediäre Ostéopetrose intermédiaire hrdo:pat_id_18683 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 612852 neant 210115 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Autoinflammatorische Krankheit durch Interleukin-1-Rezeptorantagonist-Mangel Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency DIRA DIRA DIRA DIRA DIRA Deficiencia del antagonista del receptor de interleuquina 1 Deficit dell'antagonista del recettore dell'interleuchina-1 Déficit de l'antagoniste du récepteur à l'interleukine-1 Déficit del antagonista del receptor de interleuquina 1 Enfermedad autoinflamatoria por deficiencia del antagonista del receptor de interleuquina 1 Enfermedad autoinflamatoria por déficit del antagonista del receptor de interleuquina 1 Interleukin-1 receptor antagonist deficiency Interleukin-1-Rezeptorantagonist-Mangel Maladie autoinflammatoire due au déficit de l'antagoniste du récepteur à l'interleukine-1 Malattia autoinfiammatoria da deficit dell'antagonista del recettore dell'interleuchina-1 OMPP OMPP OMPP OMPP Doença autoinflamatória por deficiência do antagonista do recetor da interleucina-1 Osteomielite multifocale sterile con periostosi e pustolosi Osteomielitis multifocal estéril con periostitis y pustulosis Ostéomyélite stérile multifocale avec périostéite et pustulose Sterile multifocal osteomyelitis with periostitis and pustulosis Sterile multifokale Osteomyelitis mit Periostitis und Pustulose hrdo:pat_id_18684 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 265380 neant 210122 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Alveolar capillary dysplasia with misalignment of pulmonary veins Alveolar capillary dysplasia with misalignment of pulmonary vessels Alveoläre kapilläre Dysplasie mit Fehlausrichtung der pulmonalen Gefäße Alveoläre kapilläre Dysplasie mit Misalignment der Lungenvenen Displasia alveolo-capilar con mal alineamiento de las vasos pulmonares Displasia alveolo-capilar con mal alineamiento de las venas pulmonares Displasia alveolocapillare con difetto di allineamento dei vasi polmonari Displasia alveolocapillare con difetto di allineamento delle vene polmonari Dysplasie alvéolo-capillaire avec défaut d'alignement des vaisseaux pulmonaires Congenital alveolar capillary dysplasia Displasia alveolo-capilar congénita Displasia alveolocapillare congenita Displasia congénita dos capilares alveolares Dysplasie alvéolo-capillaire congénitale Dysplasie, alveolar-kapilläre, kongenitale hrdo:pat_id_18685 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 276880 neant E70.8 210128 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Encefalopatia da deficit di urocanasi Encefalopatía por déficit de urocanasa Encephalopathy due to urocanase deficiency Encéphalopathie due au déficit en urocanase Enzephalopathie durch Urocanase-Mangel Aciduria urocanica Aciduria urocánica Acidurie urocanique Encefalopatia por deficiência de urocanase Urocanase-Azidurie Urocanic aciduria hrdo:pat_id_18686 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q82.8 210133 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Leuconichia totale - lesioni simili ad acantosi nigricans - anomalie dei capelli Leuconiquia total - lesiones similares a acantosis nigricans - pelo anormal Leuconiquia total - lesões tipo acantose nigricans - anomalias dos pelos Leuconychie totale - lésions de type acanthosis nigricans - cheveux anormaux Leukonychia totalis - Acanthosis-nigricans-artige Läsionen - Haarveränderungen Leukonychia totalis - acanthosis-nigricans-like lesions - abnormal hair hrdo:pat_id_18687 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 210136 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Fibrose pulmonaire - hyperplasie hépatique - hypoplasie de la moelle osseuse Fibrose pulmonar - hiperplasia hepática - hipoplasia de medula óssea Fibrosi polmonare - iperplasia epatica - ipoplasia del midollo osseo Fibrosis pulmonar - hiperplasia hepática - hipoplasia de médula ósea Lungenfibrose - Leberhyperplasie - Knochenmarkhypoplasie Pulmonary fibrosis - hepatic hyperplasia - bone marrow hypoplasia hrdo:pat_id_18688 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 603513 612900 neant 210141 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cuadriplejia espástica congénita hereditaria Inherited congenital spastic quadriplegia Quadriplegia spastica congenita ereditaria Quadriplégie spastique congénitale héréditaire Inherited congenital spastic tetraplegia Spastische Tetraplegie, kongenitale Tetraparésia espastica congénita Tetraplegia spastica congenita ereditaria Tetraplejia espástica congénita hereditaria Tetraplégie spastique congénitale héréditaire hrdo:pat_id_18689 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 612938 neant Q87.8 210144 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Letales polymalformatives Syndrom Typ Boissel Lethal polymalformative syndrome, Boissel type Sindrome polimalformativa letale, tipo Boissel Syndrome polymalformatif létal type Boissel Síndrome polimalformativo letal tipo Boissel Síndrome polimalformativo letal, tipo Boissel hrdo:pat_id_18690 neant C22.0 210159 clinical subtype Adult hepatocellular carcinoma Carcinoma epatocellulare a esordio nell'età adulta Carcinoma hepatocelular de aparición en edad adulta Carcinoma hepatocelular, apresentação no adulto Carcinome hépatocellulaire de l'adulte Hepatozelluläres Karzinom im Erwachsenenalter hrdo:pat_id_18691 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 612540 neant G71.2 210163 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Congenital lethal myopathy, Compton-North type Miopatia letal congénita, tipo Compton-North Miopatia letale congenita, tipo Compton-North Miopatía congénita letal tipo Compton-North Myopathie létale congénitale type Compton-North Myopathie, letale, kongenitale, Typ Compton-North hrdo:pat_id_18692 C537840 10064924 210272 C1608983 clinical syndrome Landsickness MDD MDD MDD Mal de debarquement Mal de debarquement syndrome MdD MdD MdDS Sickness of disembarkment Sindrome "mal de debarquement" Síndrome de la enfermedad del desembarco Síndrome del desembarco disembarkment syndrome Enfermedad del desembarco Mal de debarquement Mal de débarquement Mal do viajante Mal-de-Débarquement-Syndrom Malattia dello sbarco hrdo:pat_id_18693 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 605309 neant 210548 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Macrocephaly-autism syndrome Makrozephalie-Autismus-Syndrom Sindrome macrocefalia-autismo Syndrome d'autisme et macrocéphalie Síndrome de autismo y macrocefalia Síndrome macrocefalia-autismo hrdo:pat_id_18694 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 607488 C538002 neant G24.1 210566 C1843786 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 DYT15 DYT15 DYT15 DYT15 DYT15 Distonia mioclonica 15 Distonia mioclónica 15 Distonía mioclónica 15 Dystonie myoclonique 15 Myoclonic dystonia 15 Myoklonus-Dystonie 15 hrdo:pat_id_18695 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 612067 neant G24.1 210571 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 DYT16 DYT16 DYT16 DYT16 DYT16 Distonia 16 Distonia 16 Distonía 16 Dystonia 16 Dystonie 16 Dystonie 16 hrdo:pat_id_18696 210576 disease Congenital trismus Trisma congenito Trismus congénital Trismus congénito Trismus, kongenitaler Anchilosi congenita dell'articolazione temporomandibolare Ankylose congénitale temporo-mandibulaire Anquilose congénita das articulações temporomandibulares Anquilosis congénita de la articulación temporomandibular Congenital temporomandibular joint ankylosis Kiefergelenksankylose, kongenitale hrdo:pat_id_18697 210581 group of phenomes Anomalia das articulações temporomandibulares Anomalia dell'articolazione temporo-mandibolare Anomalie temporo-mandibulaire Anomalía de la articulación temporomandibular Temporomandibular joint anomaly Temporomandibuläre Gelenkstörung hrdo:pat_id_18698 neant D18.0 210584 128769003 403967000 C1304508 disease Emangioendotelioma a cellule fusiformi Hemangioendotelioma de célula fusiforme Hémangioendothéliome à cellules fusiformes Spindelzellhämangioendotheliom Spindle cell hemangioendothelioma Emangioma a cellule fusiformi Hemangioma de célula fusiforme Hemangioma de células fusiformes Hémangiome à cellules fusiformes Spindelzellhämangiom Spindle cell hemangioma hrdo:pat_id_18699 210589 group of phenomes Emangioma infantile con localizzazione rara Hemangioma infantil com localização rara Hemangioma infantil de localización rara Hémangiome infantile de localisation rare Infantile hemangioma of rare localization Infantiles Hämangiom mit ungewöhnlicher Lokalisation hrdo:pat_id_1870 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Aminopterin/ae%5Bmh%3Anoexp%5D+%28Abnormalities%2C+Drug-Induced+OR+embryopathy%29+humans Q86.8 1908 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Aminopterin embryopathy syndrome Aminopterin-Embryopathie Aminopterin-Exposition, vorgeburtliche Aminopterin-Syndrom, fetales Aminopterina fetal, síndrome Embriopatia sindromica da aminopterina Exposition anténatale au méthotrexate Exposition anténatale à l'aminoptérine Fetal aminopterin syndrome Sindrome fetale da aminopterina Síndrome aminopterina fetal Síndrome de aminopterina fetal Síndrome de embriopatía por aminopterina Aminopterin/Methotrexat-Embryopathie Aminopterin/methotrexate embryofetopathy Embriofetopatia da aminopterina/metotrexato Embriofetopatia por aminopterina Embriofetopatía por aminopterina/metotrexato Embryofoetopathie à l'aminoptérine/méthotrexate hrdo:pat_id_18700 neant D18.0 210592 group of phenomes Emangioma infantile gigante Giant infantile hemangioma Hemangioma gigante infantil Hemangioma infantil gigante Hémangiome infantile géant Riesenhämangiom, infantiles hrdo:pat_id_18704 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 613371 C537206 neant G11 211017 C2936793 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SCA30 SCA30 SCA30 SCA30 SCA30 SCA30 Atassia spinocerebellare, tipo 30 Ataxia espinocerebelosa tipo 30 Ataxia espinocerebolosa tipo 30 Ataxie spinocérébelleuse type 30 Ataxie, spinozerebelläre, Typ 30 Spinocerebellar ataxia type 30 hrdo:pat_id_18705 neant G12.1 211037 group of phenomes Amyotrophie spinale proximale autosomique dominante Atrofia muscolare spinale prossimale, autosomica dominante Atrofia muscular espinal proximal autosómica dominante Atrofia muscular espinal proximal, autossómica dominante Autosomal dominant proximal spinal muscular atrophy Spinale Muskelatrophie, proximale, autosomal-dominante hrdo:pat_id_18706 211047 group of phenomes Difficoltà specifica di apprendimento Dificultad específica de aprendizaje Disturbo specifico dell'apprendimento Specific learning difficulty Specific learning disorder Spezifische Lernbehinderungen Spezifische Lernsschwäche TSA Trastorno específico de aprendizaje Disabilità specifica dell'apprendimento Défice de aprendizagem específico Incapacidad específica de aprendizaje Specific learning disability Spezifische Lernstörung Trouble spécifique des apprentissages hrdo:pat_id_18707 211053 group of phenomes Disfasia Disfasia Dysphasia Dysphasie Dificuldade específica de linguagem Disturbo specifico del linguaggio Dysphasie Specific language disorder Spezifische Sprachentwicklungsstörung Trastorno específico del lenguaje hrdo:pat_id_18708 neant G11.8 211062 group of phenomes Atassia episodica ereditaria Ataxia episódica hereditaria Ataxia episódica hereditária Ataxie épisodique héréditaire Episodische Ataxie, hereditäre Hereditary episodic ataxia hrdo:pat_id_18709 Variabel Variabile Variable Variable Variable Variable Variável 613855 neant G11.8 211067 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Atassia episodica, tipo 5 Ataxia episódica tipo 5 Ataxia episódica tipo 5 Ataxie épisodique type 5 Ataxie, episodische, Typ 5 Episodic ataxia type 5 hrdo:pat_id_1871 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Indomethacin/ae+%28Abnormalities%2C+Drug-Induced+OR+embryopathy%29+humans Q86.8 1909 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Esposizione prenatale all'indometacina Exposición fetal a la indometacina Exposition anténatale à l'indometacine Fetal indomethacin syndrome Indometacin-Exposition, vorgeburtliche Indometacina fetal, síndrome Síndrome indometacina fetal Embriofetopatia por indometacina Embriopatia da indometacina Embriopatía por indometacina Embryofoetopathie à l'indométacine Indometacin-Embryopathie Indomethacin embryofetopathy hrdo:pat_id_18710 211237 group of phenomes Tumeur vasculaire Tumor vascular Tumor vascular Tumor, vaskulärer Tumore vascolare Vascular tumor hrdo:pat_id_18711 211240 group of phenomes Anomalia vascolare genetica Anomalia vascular genética Anomalie vasculaire génétique Anomalía genética vascular Genetic vascular anomaly Vaskuläre Anomalie, genetisch bedingte hrdo:pat_id_18712 neant Q27 211243 group of phenomes Malformación vascular Malformation vasculaire Malformazione vascolare Malformação vascular Vascular malformation Vaskuläre Fehlbildung hrdo:pat_id_18713 211247 234118009 C0340803 group of phenomes Capillary malformation Kapilläre Fehlbildung Malformación capilar Malformation capillaire Malformazione capillare Malformação capilar hrdo:pat_id_18714 10025532 neant Q27.8 211252 234124003 C0265950 group of phenomes Malformación venosa Malformation veineuse Malformazione venosa Malformação venosa Venous malformation Venöse Fehlbildung hrdo:pat_id_18715 211255 group of phenomes Fehlbildung des Lymphatischen Systems Lymphatic system malformation Malformación del sistema linfático Malformation du système lymphatique Malformazione del sistema linfatico Malformação do sistema linfático hrdo:pat_id_18716 D001165 10003193 neant Q27.3 211266 234141001 24551003 C0003857 C0334533 group of phenomes Arteriovenous malformation Arteriovenöse Fehlbildungen Malformación arteriovenosa Malformation artério-veineuse Malformazione arterovenosa Malformação arteriovenosa hrdo:pat_id_18717 211277 group of phenomes Emangiolinfangioma Hemangiolymphangioma Hämangiolymphangiome Hémangiolymphangiome Complex - combined vascular malformation Malformación vascular combinada - compleja Malformation vasculaire complexe combinée Malformazione vascolare complessa/combinata Malformação vascular complexa/combinada Vaskuläre Fehlbildung, komplexe/kombinierte hrdo:pat_id_1872 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 228355 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Fetal+iodine%5Bti%5D+OR+endemic+cretinism%5Btw%5D+Congenital+Hypothyroidism P72.2 1910 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Embriopatia da iodio Exposición fetal a la iodina, síndrome por Fetal iodine syndrome Hypothyroïdie congénitale par insuffisance/excès d'apport en iode Jodmangelsyndrom, fetales Síndrome iodo fetal hrdo:pat_id_1873 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Cocaine/ae+%28Abnormalities%2C+Drug+Induced+OR+embryopathy+OR+Neonatal+Abstinence+Syndrome%29+humans Q86.8 1911 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cocaína fetal, síndrome de Esposizione prenatale alla cocaina Exposición fetal a la cocaína Exposition anténatale à la cocaïne Fetal cocaine syndrome Fetales Kokain-Syndrom Kokain-Exposition, vorgeburtliche Síndrome de cocaína fetal Cocaine embryofetopathy Embriofetopatia da cocaina Embriofetopatia por cocaína Embriopatía por cocaína Embryofoetopathie à la cocaïne Kokain-Embryofetopathie hrdo:pat_id_1874 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=minoxidil+%28Abnormalities%2C+Drug+Induced+OR+embryopathy%29 Q86.8 1918 254251003 C0432373 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Embriofetopatia por minoxidil Esposizione prenatale al minoxidil Exposición fetal a minoxidil Exposition anténatale au minoxidil Minoxidil antenatal infection Minoxidil-Exposition, vorgeburtliche Embriopatia da minoxidil Embriopatía por minoxidil Embryopathie au minoxidil Fetal minoxidil syndrome Minoxidil-Embryopathie Síndrome de minoxidil fetal hrdo:pat_id_18741 neant C56 213500 group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Eierstockkrebs Rare ovarian malignant tumor Seltener maligner Tumor des Ovars Tumeur maligne rare de l'ovaire Tumor maligno raro del ovario Tumore ovarico maligno raro Cancer rare de l'ovaire Cancro do ovário raro Cancro ovarico raro Cáncer raro del ovario Rare ovarian cancer Seltener Krebs des Ovars hrdo:pat_id_18742 10051938 neant C56 213504 C0948216 disease Adenocarcinoma del ovario Adenocarcinoma do ovário Adenocarcinoma ovarico Adenokarzinom, ovarielles Adénocarcinome de l'ovaire Ovarian adenocarcinoma hrdo:pat_id_18743 neant C56 213512 disease Carcinosarcoma de ovario Carcinosarcoma dell'ovaio Carcinosarcome de l'ovaire Karzinosarkom des Ovars Ovarian carcinosarcoma Gemischte epitheliale und mesenchymale Tumoren des Ovars Malignant mixed epithelial mesenchymal tumor of the ovary Tumeur maligne mixte épithéliale et mésenchymateuse de l'ovaire Tumor maligno mesenquimatoso e epitelial misto do ovário Tumor maligno mixto epitelial y mesenquimatoso del ovario Tumore misto maligno mesenchimale ed epiteliale dell'ovaio hrdo:pat_id_18744 neant C56 213517 group of phenomes Familial ovarian malignant tumor Ovarialtumor, familiärer maligner Tumer maligne de l'ovaire, forme familiale Tumor maligno de ovario, forma familiar Tumore ovarico maligno familiare Cancer de l'ovaire, forme familiale Cancro do ovário, familiar Cancro ovarico familiare Cáncer de ovario familiar Familial ovarian cancer Ovarialkrebs, familiärer hrdo:pat_id_18745 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant C56 213524 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Hereditary site-specific ovarian cancer syndrome Ovarialkarzinom, lagespezifisches Sindrome del cancro ovarico sito-specifico ereditario Syndrome héréditaire de prédispostition au cancer de l'ovaire Síndrome cancro do ovário local-específico hereditário Síndrome de cáncer de ovario de localización específica hereditario hrdo:pat_id_18746 neant C50 213528 disease Adenocarcinoma da mama, raro Adenocarcinoma della mammella raro Adenocarcinoma raro de mama Adénocarcinome rare du sein Rare adenocarcinoma of the breast Seltenes Adenokarzinom der Brust hrdo:pat_id_18747 neant C50 213531 disease Carcinoma metaplastico della mammella Carcinoma metaplásico da mama Carcinoma metaplásico de mama Carcinome métaplasique du sein Metaplastic carcinoma of the breast Metaplastisches Karzinom der Brust hrdo:pat_id_18748 neant C50 213557 disease Carcinoma de mama de tipo glándula salivar Carcinoma della mammella tipo ghiandola salivare Carcinome du sein type glande salivaire Mammakarzinom vom Speicheldrüsentyp Salivary gland type carcinoma of the breast Cancer du sein type glande salivaire Cancro da mama, tipo glândula salivar Cancro della mammella tipo ghiandola salivare Cáncer de mama de tipo glándula salivar Mammatumor vom Speicheldrüsentyp Salivary gland type cancer of the breast hrdo:pat_id_18749 213564 group of phenomes Cancro dell'utero raro Cáncer uterino raro Rare cancer of the uterus Rare malignant tumor of the uterus Rare uterine malignant tumor Seltener Krebs der Gebärmutter Seltener maligner Tumor des Uterus Tumeur maligne rare de l'utérus Tumor maligno raro de útero Tumor maligno uterino raro Tumore maligno dell'utero raro Tumore uterino maligno raro Uteruskarzinom Cancer rare de l'utérus Cancro uterino raro Cáncer raro de útero Rare uterine cancer Tumor uterino raro Uterustumor, seltener hrdo:pat_id_1875 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance C537922 10016508 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28fetal+hydantoin+syndrome%5Btw%5D+OR+%28phenytoin/ae+%28Abnormalities%2C+Drug+Induced+OR+embryopathy%29%29%29+humans Q86.1 1912 70065001 C0265372 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Embriofetopatia da fentoina Embriofetopatia por fenitoína Embriofetopatía por fenitoina Embryofoetopathie à la diphénylhydantoïne Exposition anténatale à la diphénylhydantoïne Fetal dihydantoin syndrome Hydantoin-Embryopathie Phenytoin embryofetopathy Phenytoin-Embryopathie Sindrome fetale da diidantoina Síndrome fetal por dihidantoína Dihydantoin-Embryopathie Embryofoetopathie à la phénylhydantoïne Fetal hydantoin syndrome Sindrome fetale da idantoina Síndrome de hidantoína fetal Síndrome fetal por hidantoína hrdo:pat_id_18750 neant C54 213569 group of phenomes Rare malignant tumor of the corpus uteri Seltener maligner Tumor des Corpus uteri Tumeur maligne rare du corps de l'utérus Tumor maligno raro de cuerpo de útero Tumore maligno del corpo uterino raro Cancer rare du corps de l'utérus Cancro del corpo uterino raro Cáncer raro de cuerpo de útero Rare cancer of the corpus uteri Seltener Krebs des Corpus uteri Tumor maligno do corpo uterino, raro hrdo:pat_id_18751 neant C54 213574 disease Adenocarcinoma do corpo uterino, raro Adenocarcinoma raro de cuerpo de útero Adenocarcinoma raro del corpo uterino Adenokarzinom des Corpus uteri Adénocarcinome rare du corps de l'utérus Rare adenocarcinoma of the corpus uteri hrdo:pat_id_18752 neant C54 213589 group of phenomes Cancer mésenchymateux et épithélial du corps de l'utérus Cancro mesenchimale ed epiteliale misto del corpo uterino Cáncer mixto epitelial y mesenquimatoso de cuerpo de útero Mixed epithelial and mesenchymal cancer of the corpus uteri Cancro mesenquimatoso e epitelial misto maligno do corpo uterino Gemischte epitheliale und mesenchymale Tumoren des Corpus uteri Malignant mixed epithelial and mesenchymal tumor of the corpus uteri Tumeur mésenchymateuse et épithéliale maligne du corps de l'utérus Tumor maligno mixto epitelial y mesenquimatoso de cuerpo de útero Tumore mesenchimale ed epiteliale misto maligno del corpo uterino hrdo:pat_id_18753 neant C54 213600 disease Adenosarcoma de cuerpo de útero Adenosarcoma del corpo uterino Adenosarcoma of the corpus uteri Adenosarkom des Corpus uteri Adenossarcoma do corpo uterino Adénosarcome du corps de l'utérus hrdo:pat_id_18754 neant C54 213605 disease Carcinofibroma de cuerpo de útero Carcinofibroma del corpo uterino Carcinofibroma do corpo uterino Carcinofibroma of the corpus uteri Carcinofibrome du corps de l'utérus Karzinofibrom des Corpus uteri hrdo:pat_id_18755 neant C54 213610 disease Cancro mülleriano misto del corpo uterino Cáncer mülleriano mixto de cuerpo de útero Mixed müllerian cancer of the corpus uteri Malignant mixed müllerian tumor of the corpus uteri Maligner Müller-Mischtumor des Corpus uteri Tumeur müllérienne mixte maligne du corps de l'utérus Tumor misto mulleriano do corpo uterino Tumor mülleriano mixto maligno de cuerpo de útero Tumore mülleriano misto maligno del corpo uterino hrdo:pat_id_18756 neant C54 213615 disease Rabdomiosarcoma de cuerpo de útero Rabdomiosarcoma del corpo uterino Rabdomiossarcoma do corpo uterino Rhabdomyosarcoma of the corpus uteri Rhabdomyosarcome du corps de l'utérus Rhabdomyosarkom des Corpus uteri hrdo:pat_id_18757 10039497 neant C54 213620 254877001 C0338113 group of phenomes Sarcoma de cuerpo de útero Sarcoma del corpo uterino Sarcoma do corpo uterino Sarcoma of the corpus uteri Sarcome du corps de l'utérus Sarkom des Corpus uteri hrdo:pat_id_18758 neant C54 213625 disease Leiomiosarcoma de cuerpo de útero Leiomiosarcoma del corpo uterino Leiomiossarcoma do corpo uterino Leiomyosarcoma of the corpus uteri Leiomyosarkom des Corpus uteri Léiomyosarcome du corps de l'utérus hrdo:pat_id_18759 neant C54 213630 disease Cancer neuroectodermique périphérique du corps de l'utérus Cancro neuroectodermico periferico del corpo uterino Cáncer neuroectodérmico periférico de cuerpo de útero Karzinom des Corpus uteri, neuroektodermales peripheres Peripheral neuroectodermal cancer of the corpus uteri Malignant peripheral neuroectodermal tumor of the corpus uteri Maligner peripherer neuroektodermaler Tumor des Corpus uteri Tumeur neuroectodermique périphérique maligne du corps de l'utérus Tumor maligno neuroectodérmico periférico do corpo uterino Tumor neuroectodérmico periférico maligno de cuerpo de útero Tumore mesenchimale periferico maligno del corpo uterino hrdo:pat_id_1876 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance C537798 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=trimethadione/ae+%28Abnormalities%2C+Drug+Induced+OR+embryopathy%29+humans Q86.8 1913 66351003 C0265373 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Embriofetopatia por trimetadiona Esposizione prenatale al trimetadione Exposición fetal a la trimetadiona Exposition anténatale à la triméthadione Trimethadion-Exposition, vorgeburtliche Trimethadion-Syndrom, fetales Trimethadione antenatal infection Embriopatia da trimetadione Embriopatía por trimetadiona Embryopathie à la triméthadione Fetal trimethadione syndrome Síndrome trimetadiona fetal Trimethadion-Embryopathie hrdo:pat_id_18760 D018203 10057649 neant C50 213711 C0206630 disease Sarcoma estromal de cuerpo de útero Sarcoma stromale del corpo uterino Sarcome stromal du corps de l'utérus Stromal sarcoma of the corpus uteri Stromasarkom, endometriales Endometrial stromal sarcoma Sarcoma del estroma endometrial Sarcoma do estroma do endométrio Sarcoma stromale dell'endometrio Sarcome stromal de l'endomètre Stromasarkom des Corpus uteri hrdo:pat_id_18761 neant C50 213716 disease Carcinoma a cellule squamose dell'endometrio Carcinoma endometrial de células escamosas Carcinome épidermoïde de l'endomètre Endometrial squamous cell carcinoma Plattenepithelkarzinom, endometriales Carcinoma a cellule squamose del corpo uterino Carcinoma de células escamosas de cuerpo de útero Carcinoma de células escamosas do corpo uterino Carcinome épidermoïde du corps de l'utérus Plattenepithelkarzinom des Corpus uteri Squamous cell carcinoma of the corpus uteri hrdo:pat_id_18762 neant C50 213721 disease Carcinoma indiferenciado del endometrio Carcinoma non differenziato dell'endometrio Carcinome indifférencié de l'endomètre Endometrial undifferentiated carcinoma Karzinom, endometriales undifferenziertes Carcinoma indiferenciado de cuerpo de útero Carcinoma indiferenciado do corpo uterino Carcinoma non differenziato del corpo uterino Carcinome indifférencié du corps de l'utérus Undifferentiated carcinoma of the corpus uteri Undifferenziertes Karzinom des Corpus uteri hrdo:pat_id_18763 neant C54 213726 disease Carcinoma Papillare dell'endometrio Carcinoma papilar del endometrio Carcinome papillaire de l'endomètre Endometrial capillary carcinoma Karzinom, endometriales kapilläres Carcinoma papilar de cuerpo de útero Carcinoma papilar do corpo uterino Carcinoma papillare del corpo uterino Carcinome papillaire du corps de l'utérus Papillary carcinoma of the corpus uteri Papilläres Karzinom des Corpus uteri hrdo:pat_id_18764 neant C54 213731 disease Carcinoma endocrino poco diferenciado del endometrio Carcinoma endocrino scarsamente differenziato dell'endometrio Carcinome endocrine peu différencié de l'endomètre Karzinom, endokrines endometriales, wenig differenziertes Poorly differentiated endocrine carcinoma of the endometrium Carcinoma endocrino poco diferenciado de cuerpo de útero Carcinoma endocrino scarsamente differenziato del corpo uterino Carcinoma endócrino pouco diferenciado do corpo uterino Carcinome endocrine peu différencié du corps de l'utérus Poorly differentiated endocrine carcinoma of the corpus uteri Wenig differenziertes endokrines Karzinom des Corpus uteri hrdo:pat_id_18765 neant C54 213736 disease Gut differenzierte Neoplasie des Endometriums Gut differenzierter endokriner Tumor des Corpus uteri Gut differenzierter endokriner Tumor des Endometriums Neoplasia endocrina ben differenziata dell'endometrio Neoplasia endocrina bien diferenciada del endometrio Néoplasie endocrine bien différenciée de l'endomètre Tumeur endocrine bien différenciée de l'endomètre Tumeur endocrine bien différenciée du corps de l'utérus Tumor endocrino bien diferenciado de cuerpo de útero Tumor endocrino bien diferenciado del endometrio Tumore endocrino ben differenziato del corpo uterino Tumore endocrino ben differenziato dell'endometrio Well differentiated endocrine neoplasm of the endometrium Well differentiated endocrine tumor of the corpus uteri Well differentiated endocrine tumor of the endometrium Gut differenzierte Neoplasie des Corpus uteri Neoplasia endocrina ben differenziata del corpo uterino Neoplasia endocrina bien diferenciada de cuerpo de útero Neoplasia endócrino bem diferenciada do corpo uterino Néoplasie endocrine bien différenciée du corps de l'utérus Well differentiated endocrine neoplasm of the corpus uteri hrdo:pat_id_18766 neant C54 213741 disease Carcinoma adenoide cistico dell'endometrio Carcinoma adenoide quístico del endometrio Carcinome adénoïde kystique de l'endomètre Endometrial adenoid cystic carcinoma Karzinom, adenoides endometriales zystisches Adenoid cystic carcinoma of the corpus uteri Adenoides zystisches Karzinom des Corpus uteri Carcinoma adenoide cistico del corpo uterino Carcinoma adenoide quístico de cuerpo de útero Carcinoma adenóide quístico do corpo uterino Carcinome adénoïde kystique du corps de l'utérus hrdo:pat_id_18767 neant C54 213746 disease Carcinoma a cellule transizionali dell'endometrio Carcinoma de células transicionales del endometrio Carcinome à cellules transitionnelles de l'endomètre Endometrial transitional cell carcinoma Carcinoma a cellule transizionali del corpo uterino Carcinoma de células de transição do corpo uterino Carcinoma de células transicionales de cuerpo de útero Carcinome à cellules transitionnelles du corps de l'utérus Transitional cell carcinoma of the corpus uteri Transitionalzellkarzinom des Corpus uteri hrdo:pat_id_18768 neant C54 213751 disease Cancer germinal du corps de l'utérus Cancro a cellule terminali del corpo uterino Cáncer de células germinales de cuerpo de útero Germ cell cancer of the corpus uteri Malignant germ cell tumor of the corpus uteri Maligner Keimzelltumor des Corpus uteri Tumeur germinale maligne du corps de l'utérus Tumor maligno de células germinales de cuerpo de útero Tumor maligno de células germinativas do corpo uterino Tumore maligno a cellule germinali del corpo uterino hrdo:pat_id_18769 neant C53 213761 group of phenomes Cancer cervical rare Cancro cervicale raro Cáncer cervical raro Rare cervical cancer Rare cervical malignant tumor Rare malignant tumor of the cervix uteri Seltener Krebs des Gebärmutterhalses Seltener maligner Tumor der Zervix Tumeur maligne cervicale rare Tumeur maligne rare du col de l'utérus Tumor maligno cervical raro Tumor maligno raro de cuello de útero Tumore maligno raro della cervice Tumore maligno raro della cervice uterina Cancer rare du col de l'utérus Cancro do colo do útero, raro Cancro raro della cervice uterina raro Cáncer raro de cuello de útero Rare cancer of the cervix uteri Seltener Krebs des Cervix uteri hrdo:pat_id_1877 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=warfarin/ae+%28Abnormalities%2C+Drug+Induced+OR+embryopathy%29+humans Q86.2 1914 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Coumarin embryopathy Cumarin-Embryopathie Embriofetopatia da antagonisti della vitamina K Embriofetopatia por varfarina Embriopatia da cumarina Embriopatía por coumarina Embryofoetopathie par exposition aux antagonistes de la vitamine K Embryofoetopathie à la warfarine Embryopathie coumarinique Embryopathie durch Vitamin K-Antagonisten Fetal warfarin syndrome Fetales Warfarinsyndrom Sindrome fetale da warfarin Syndrome foetal de la warfarine Síndrome fetal por warfarina Vitamin K antagonists embryofetopathy Embriofetopatia secondaria a terapia anticoagulante orale Embriofetopatía por terapia anticoagulante oral Embryofetopathy due to oral anticoagulant therapy Embryofoetopathie due aux anticoagulants oraux Embryopathie durch oral verabreichte Antikoagulanzien Síndrome varfarina fetal hrdo:pat_id_18770 neant C53 213767 disease Carcinoma cervical raro de células escamosas Carcinoma cervicale raro a cellule squamose Carcinome épidermoïde cervical rare Plattenepithelkarzinom des Gebärmutterhalses Rare cervical squamous cell carcinoma Carcinoma de células escamosas do colo do útero, raro Carcinoma raro a cellule squamose della cervice uterina Carcinoma raro de células escamosas de cuello de útero Carcinome épidermoïde rare du col de l'utérus Rare squamous cell carcinoma of the cervix uteri Squamöses Zellkarzinom des Cervix uteri hrdo:pat_id_18771 neant C53 213772 disease Adenocarcinoma cervical Adenocarcinoma cervicale Adenokarzinom, zervikales Adénocarcinome cervical Cervical adenocarcinoma Adenocarcinoma de cuello de útero Adenocarcinoma della cervice uterina Adenocarcinoma do colo do útero Adenocarcinoma of the cervix uteri Adenokarzinom des Cervix uteri Adénocarcinome du col de l'utérus hrdo:pat_id_18772 neant C53 213777 disease Carcinoma cervical endocrino poco diferenciado Carcinoma cervicale endocrino scarsamente differenziato Carcinome endocrine cervical peu différencié Poorly differentiated endocrine cervical carcinoma Zervixkarzinom, endokrines, wenig differenziertes Carcinoma endocrino poco diferenciado de cuello de útero Carcinoma endocrino scarsamente differenziato della cervice uterina Carcinoma endócrino mal diferenciado do colo do útero Carcinome endocrine peu différencié du col de l'utérus Karzinom des Cervix uteri, endokrines, wenig differenziertes Poorly differentiated endocrine carcinoma of the cervix uteri hrdo:pat_id_18773 neant C53 213782 group of phenomes Cancer mésenchymateux et épithélial du col de l'utérus Cancro misto mesenchimale ed epiteliale della cervice uterina Cervical malignant mixed epithelial and mesenchymal tumor Cáncer mixto epitelial y mesenquimatoso de cuello de útero Mixed epithelial and mesenchymal cancer of the cervix uteri Tumeur mésenchymateuse et épithéliale maligne cervicale Tumor cervical maligno mixto epitelial y mesenquimatoso Tumore cervicale maligno misto mesenchimale ed epiteliale Zervixkarzinom, gemischt epithelial-mesenchymales Epithelial-mesenchymaler maligner Mischtumor des Cervix uteri Malignant mixed epithelial and mesenchymal tumor of the cervix uteri Tumeur mésenchymateuse et épithéliale maligne du col de l'utérus Tumor maligno mesenquimatoso e epitelial misto do colo do útero Tumor maligno mixto epitelial y mesenquimatoso de cuello de útero Tumore misto mesenchimale ed epitelialemaligno della cervice uterina hrdo:pat_id_18774 neant C53 213787 disease Cervical malignant müllerian mixed tumor Müller-Mischtumor, zervikaler Tumeur müllérienne mixte maligne cervicale Tumor mülleriano mixto maligno cervical Tumore cervicale mülleriano misto Malignant müllerian mixed tumor of the cervix uteri Maligner Müller-Mischtumor des Cervix uteri Tumeur müllérienne mixte maligne du col de l'utérus Tumor maligno misto mulleriano do colo do útero Tumor mülleriano mixto maligno de cuello de útero Tumore misto mülleriano maligno della cervice uterina hrdo:pat_id_18775 neant C53 213792 disease Adenosarcoma cervical Adenosarcoma cervicale Adenosarkom, zervikales Adénosarcome cervical Cervical adenosarcoma Adenosarcoma de cuello de útero Adenosarcoma della cervice uterina Adenosarcoma of the cervix uteri Adenosarkom des Corpus uteri Adenossarcoma do colo do útero Adénosarcome du col de l'utérus hrdo:pat_id_18776 neant C53 213797 group of phenomes Cervical malignant mesenchymal tumor Cervical sarcoma Malignant mesenchymal tumor of the cervix uterus Maligner mesenchymaler Tumor des Gebärmutterhalses Sarcoma cervical Sarcoma cervicale Sarcome cervical Sarkom, zervikales Tumeur mésenchymateuse maligne cervicale Tumeur mésenchymateuse maligne du col de l'utérus Tumor mesenquimatoso maligno cervical Tumor mesenquimatoso maligno de cuello de útero Tumore cervicale mesenchimale maligno Tumore mesenchimale maligno della cervice dell'utero Zervixtumor, maligner mesemchymaler Sarcoma de cuello de útero Sarcoma della cervice dell'utero Sarcoma do colo do útero Sarcoma of the cervix uteri Sarcome du col de l'utérus Sarkom des Corpus uteri hrdo:pat_id_18777 neant C53 213802 disease Cervical rhabdomyosarcoma Rabdomiosarcoma cervical Rabdomiosarcoma cervicale Rhabdomyosarcome cervical Rhabdomyosarkom, zervikales Rabdomiosarcoma de cuello de útero Rabdomiosarcoma della cervice uterina Rabdomiossarcoma do colo do útero Rhabdomyosarcoma of the cervix uteri Rhabdomyosarcome du col de l'utérus Rhabdomyosarkom des Cervix uteri hrdo:pat_id_18778 neant C53 213807 disease Cervical leiomyosarcoma Leiomiosarcoma cervical Leiomiosarcoma cervicale Leiomyosarkom, zervikales Léiomyosarcome cervical Leiomiosarcoma de cuello de útero Leiomiosarcoma della cervice uterina Leiomiossarcoma do colo do útero Leiomyosarcoma of the cervix uteri Leiomyosarkom des Cervix uteri Léiomyosarcome du col de l'utérus hrdo:pat_id_18779 neant C53 213812 disease Cancer neuroectodermique périphérique cervical Cancer neuroectodermique périphérique du col de l'utérus Cancro cervicale neuroectodermico periferico Cancro neuroectodermico periferico della cervice uterina Cervical malignant peripheral neuroectodermal tumor Cervical peripheral neuroectodermal cancer Cáncer neuroectodérmico periférico cervical Cáncer neuroectodérmico periférico de cuello de útero Peripheral neuroectodermal cancer of the cervix uteri Tumeur neuroectodermique périphérique maligne cervicale Tumor neuroectodérmico periférico maligno cervical Tumore cervicale neuroectodermico periferico maligno Zervixkarzinom, neuroektodermales peripheres Zervixtumor, maligner neuroektodermaler peripherer Malignant peripheral neuroectodermal tumor of the cervix uteri Maligner peripherer neuroektodermaler Tumor des Cervix uteri Tumeur neuroectodermique périphérique maligne du col de l'utérus Tumor maligno neuroectodérmico periférico do colo do útero Tumor neuroectodérmico periférico maligno de cuello de útero Tumore neuroectodermico periferico maligno della cervice uterina hrdo:pat_id_1878 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28cytomegalovirus%5Bmajr%5D+OR+cytomegalovirus+infections%5Bmajr%5D%29+%28fetal+diseases%5Bmajr%3Anoexp%5D+OR+fetus%5Bmajr%5D%29 P35.1 294 276701009 C0349499 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 CMV antenatal infection CMV-Infektion, vorgeburtliche Cytomegalovirus antenatal infection Infección fetal por CMV Infección fetal por citomegalovirus Infection anténatale au CMV Infection anténatale au cytomégalovirus Infecção pré-natal por CMV Infecção pré-natal por citomegalovírus Infezione prenatale al CMV Infezione prenatale al citomegalovirus Infeção pré-natal por CMV Infeção pré-natal por citomegalovírus Zytomegalievirus, vorgeburtliche Infektion Embriopatia da citomegalovirus Embriopatía por citomegalovirus Embryopathie à cytomégalovirus Fetal cytomegalovirus syndrome Fetales Zytomegalie-Syndrom Síndrome de citomegalovírus fetal hrdo:pat_id_18780 neant C53 213817 disease Carcinoma cervicale papillare Carcinoma papilar cervical Carcinome papillaire cervical Cervical papillary carcinoma Zervixkarzinom, papilläres Carcinoma papilar de cuello de útero Carcinoma papilar do colo do útero Carcinoma papillare della cervice uterina Carcinome papillaire du col de l'utérus Papillary carcinoma of the cervix uteri Papilläres Karzinom des Cervix uteri hrdo:pat_id_18781 neant C53 213823 disease Carcinoma adenoide quístico cervical Carcinoma adonoide cistico cervicale Carcinome adénoïde kystique cervical Cervical adenoid cystic carcinoma Zervixkarzinom, adenoides zystisches Adenoid cystic carcinoma of the cervix uteri Adenoides zystisches Karzinom des Cervix uteri Carcinoma adenoide quístico de cuello de útero Carcinoma adenoideo cistico della cervice uterina Carcinoma adenóide quístico do colo do útero Carcinome adénoïde kystique du col de l'utérus hrdo:pat_id_18782 neant C53 213828 disease Basalkarzinom, adenoides zervikales Carcinoma adenoide basal cervical Carcinoma adenoide basale cervicale Carcinome adénoïde basal cervical Cervical adenoid basal carcinoma Adenoid basal carcinoma of the cervix uteri Adenoides Basalzellkarzinom des Cervix uteri Carcinoma adenoide basal de cuello de útero Carcinoma adenoide basale della cervice uterina Carcinoma adenóide basal do colo do útero Carcinome adénoïde basal du col de l'utérus hrdo:pat_id_18783 neant C53 213833 disease Carcinome cervical à cellules vitreuses Carcinoma a cellule vitree della cervice uterina Carcinoma das células vítreas do colo do útero Carcinoma de células vidriosas de cuello de útero Carcinome à cellules vitreuses du col de l'utérus Glassy cell carcinoma of the cervix uteri Glaszellkarzinom des Cervix uteri hrdo:pat_id_18784 neant C53 213837 disease Cancer germinal cervical Cancer germinal du col de l'utérus Cancro a cellule germinali della cervice uterina Cancro cervicale a cellule germinali Cervical germ cell cancer Cervical malignant germ cell tumor Cáncer cervical de células germinales Cáncer de células germinales de cuello de útero Germ cell cancer of the cervix uteri Keimzellkrebs, zervikaler Keimzelltumor, maligner zervikaler Tumeur cervicale germinale maligne Tumor cervical maligno de células germinales Tumore cervicale maligno a cellule germinali Malignant germ cell tumor of the cervix uteri Maligner Keimzelltumor des Cervix uteri Tumeur germinale maligne du col de l'utérus Tumor maligno das células germinativas do colo do útero Tumor maligno de células germinales de cuello de útero Tumore maligno a cellule germinali della cervice uterina hrdo:pat_id_18785 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 216445 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Herencia mitocondrial Hérédité mitochondriale Ligado ao X recessivo Mitochondrial inheritance Mitochondrial inheritance Mitochondriale Vererbung Modo de hereditariedade mitocondrial Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X Trasmissione mitocondriale X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Isolated prelingual genetic deafness Prälinguale Schwerhörigkeit, isolierte, genetisch bedingte Sordera genética prelingual aislada Sordità genetica prelinguale isolata Surdité génétique isolée prélinguale Prelingual nonsyndromic genetic deafness Prälinguale Schwerhörigkeit, nichtsyndromale, genetisch bedingte Sordera genética prelingual no sindrómica Sordità genetica prelinguale non sindromica Surdez genética prelingual não-sindrómica Surdité génétique non syndromique prélinguale hrdo:pat_id_18786 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 216452 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Isolated postlingual genetic deafness Postlinguale Schwerhörigkeit, isolierte, genetisch bedingte Sordera genética postlingual aislada Sordità genetica postlinguale isolata Surdité génétique isolée postlinguale Postlingual nonsyndromic genetic deafness Postlinguale Schwerhörigkeit, nichtsyndromale, genetisch bedingte Sordera genética no sindrómica postlingual Sordità genetica postlinguale non sindromica Surdez genética pós-lingual não sindrómica Surdité génétique non syndromique postlinguale hrdo:pat_id_18787 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q20.3 Q20.5 216675 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Complete transposition Komplette Transposition der großen Arterien TGA TGA TGA TGA TGV TGV TGV TGV Transposición completa Transposición de los grandes vasos Transposition complète Transposition der großen Gefäße Transposition des grosses artères Transposition of the great vessels Trasposizione completa Trasposizione dei grandi vasi Transposición de las grandes arterias Transposition der großen Arterien Transposition des gros vaisseaux Transposition of the great arteries Transposição das grandes artérias Trasposizione delle grandi arterie hrdo:pat_id_18788 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável C535426 10011120 neant Q20.5 216694 83799000 C0344616 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Atrioventrikuläre und ventrikuloarterielle Diskordanz Congenitally corrected transposition of the great vessels Connessioni ventricoloarteriose e atrioventricolari discordanti Discordances ventriculo-artérielle et atrio-ventriculaire Discordancia de la conexión atrioventricular y ventriculoarterial Discordancia ventriculoarterial y atrioventricular Discordant ventriculoarterial and atrioventricular connections Discordanza ventricoloarteriosa e atrioventricolare Doble discordancia Doppelte Diskordanz Doppia discordanza Double discordance Double discordance Inversion ventriculaire Inversione ventricolare Inversión ventricular Kongenital korrigierte Transposition der großen Gefäße L-Transposition der großen Arterien L-transposición de las grandes arterias L-transposition des gros vaisseaux L-transposition of the great arteries L-trasposizione delle grandi arterie Levo-transposición de las grandes arterias Levo-transposition des gros vaisseaux Levo-transposition of the great arteries Levo-trasposizione delle grandi arterie Transposición congénitamente corregida de los grandes vasos Transposition congénitalement corrigée des grosses artères Trasposizione congenitamente corretta dei grandi vasi Ventricular inversion Ventriculoarterial and atrioventricular discordance Ventrikelinversion Congenitally corrected transposition of the great arteries Kongenital korrigierte Transposition der großen Arterien Transposición congénitamente corregida de las grandes arterias Transposition congénitalement corrigée des gros vaisseaux Transposição das grandes artérias, corrigida congenitamente Trasposizione congenitamente corretta delle grandi arterie hrdo:pat_id_18789 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q20.3 216718 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Isolated congenitally uncorrected transposition of the great vessels Isolierte Kongenitale korrigierte Transposition der großen Gefäße Transposición aislada congénitamente corregida de los grandes vasos Transposition isolée congénitalement non corrigée des grosses artères Trasposizione congenitamente corretta isolata dei grandi vasi Isolated congenitally uncorrected transposition of the great arteries Isolierte Kongenitale korrigierte Transposition der großen Arterien Transposición aislada congénitamente corregida de las grandes arterias Transposition isolée congénitalement non corrigée des gros vaisseaux Transposição das grandes artérias, isolada, corrigida congenitamente Trasposizione congenitamente corretta isolata delle grandi arterie hrdo:pat_id_1879 Variabel Variabile Variable Variable Variable Variable Variável 10012780 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Diethylstilbestrol/ae+%28Abnormalities%2C+drug+induced+OR+Prenatal+Exposure+Delayed+Effects%29+humans Q86.8 1916 C0853695 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 DES embryofetopathy DES syndrome DES-Syndrom Diethylstilbestrol (DES)-Embryopathie Diethylstilbestrol embryofetopathy Distilben-Embryopathie Distilbene embryofetopathy Embriofetopatia da DES Embriofetopatia da dietilstilbestrolo Embriofetopatia da distilbene Embriofetopatia por Dietilstilbestrol Embriofetopatía por dietilestilbestrol (DES) Embriofetopatía por distilben Embryofoetopathie au distilbène Exposition anténatale au diéthylstilbestrol Sindrome da DES Syndrome DES Síndrome DES Diethylstilbestrol syndrome Diethylstilbestrol-Syndrom Embriofetopatia por Distilbeno Sindrome da dietilstilbestrolo Syndrome diethylstilbestrol Síndrome por dietilestilbestrol hrdo:pat_id_18790 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q20.3 216729 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Congenitally uncorrected transposition of the great vessels with cardiac malformation Kongenitale unkorrigierte Transposition der großen Gefäße mit Herzfehlbildung TGA con malformación cardiaca TGA con malformazione cardiaca TGA mit Herzfehlbildung TGA with cardiac malformation TGV avec malformation cardiaque Transposición congénitamente no corregida de los grandes vasos con malformación cardiaca Transposition congénitalement non corrigée des grosses artères avec malformation cardiaque Trasposizione congenitamente non corretta dei grandi vasi con malformazione cardiaca Congenitally uncorrected transposition of the great arteries with cardiac malformation Kongenitale unkorrigierte Transposition der großen Arterien mit Herzfehlbildung Transposición congénitamente no corregida de las grandes arterias con malformación cardiaca Transposition congénitalement non corrigée des gros vaisseaux avec malformation cardiaque Transposição das grandes artérias com malformação cardíaca, não corrigida congenitamente Trasposizione congenitamente non corretta delle grandi arterie con malformazione cardiaca hrdo:pat_id_18791 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 166200 166230 neant Q78.0 216796 385482004 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Adair-Dighton syndrome Adair-Dighton-Syndrom OI Typ 1 OI tipo 1 OI type 1 OI type 1 OI, tipo 1 Sindrome di Adair-Dighton Sindrome di Van der Hoeve Syndrome d'Adair-Dighton Syndrome de Van der Hoeve Síndrome de Adair-Dighton Síndrome de Van der Hoeve Van der Hoeve syndrome Van der Hoeve-Syndrom Osteogenesi imperfetta, tipo 1 Osteogenesis imperfecta Typ 1 Osteogenesis imperfecta type 1 Osteogénese imperfeita, tipo 1 Osteogénesis imperfecta tipo 1 Ostéogenèse imparfaite type 1 hrdo:pat_id_18792 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 166210 259440 610682 610915 neant Q78.0 216804 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown OI Typ 2 OI tipo 2 OI type 2 OI type 2 OI, tipo 2 Osteogenesi imperfetta, tipo 2 Osteogenesis imperfecta Typ 2 Osteogenesis imperfecta type 2 Osteogénese imperfeita, tipo 2 Osteogénesis imperfecta tipo 2 Ostéogenèse imparfaite type 2 hrdo:pat_id_18793 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 259420 259440 610682 610915 613848 613982 614856 615220 C536044 neant Q78.0 216812 385483009 C0268362 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown OI Typ 3 OI tipo 3 OI type 3 OI type 3 OI, tipo 3 Osteogenesi imperfetta, tipo 3 Osteogenesis imperfecta Typ 3 Osteogenesis imperfecta type 3 Osteogénese imperfeita, tipo 3 Osteogénesis imperfecta tipo 3 Ostéogenèse imparfaite type 3 hrdo:pat_id_18794 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 166220 259440 610682 613849 615066 615220 C536045 neant Q78.0 216820 205497004 C0268363 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown OI Typ 4 OI tipo 4 OI type 4 OI type 4 OI, tipo 4 Osteogenesi imperfetta, tipo 4 Osteogenesis imperfecta Typ 4 Osteogenesis imperfecta type 4 Osteogénese imperfeita, tipo 4 Osteogénesis imperfecta tipo 4 Ostéogenèse imparfaite type 4 hrdo:pat_id_18795 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 610967 610968 C536046 neant Q78.0 216828 C2931093 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 OI Typ 5 OI tipo 5 OI type 5 OI type 5 OI, tipo 5 Osteogenesi imperfetta, tipo 5 Osteogenesis imperfecta Typ 5 Osteogenesis imperfecta type 5 Osteogénese imperfeita, tipo 5 Osteogénesis imperfecta tipo 5 Ostéogenèse imparfaite type 5 hrdo:pat_id_18796 neant G23.0 216866 clinical subtype NBIA1, classic form NBIA1, forma classica NBIA1, forma clásica NBIA1, forme classique NBIA1, klassische Form Neurodegeneración con acumulación de hierro en el cerebro tipo 1, forma clásica Neurodegeneration mit Eisenspeicherung im Gehirn Typ 1, klassische Form Neurodegeneration with brain iron accumulation type 1, classic form Neurodegenerazione con accumulo cerebrale di ferro di tipo 1, forma classica Neurodegenerazione con accumulo cerebrale di ferro, tipo 1, forma classica Neurodégénérescence avec surcharge cérébrale en fer de type 1, forme classique PKAN, classic form PKAN, forma classica PKAN, forma clásica PKAN, forme classique PKAN, klassische Form Classic pantothenate kinase associated neurodegeneration Neurodegeneración asociada a pantotenato quinasa, forma clásica Neurodegenerazione associata a deficit di pantotenato chinasi, forma classica Neurodegeneração associada a pantotenato cinase, forma clássica Neurodégénérescence associée à un déficit en panthoténate-kinase, forme classique Pantothenat-Kinase-assoziierte Neurodegeneration, klassische Form hrdo:pat_id_18797 neant G23.0 216873 clinical subtype NBIA1, atypical form NBIA1, atypische Form NBIA1, forma atipica NBIA1, forma atípica NBIA1, forme atypique Neurodegeneración con acumulación de hierro en el cerebro tipo 1, forma atípica Neurodegeneration mit Eisenspeicherung im Gehirn Typ 1, atypische Form Neurodegeneration with brain iron accumulation type 1, atypical form Neurodegenerazione con accumulo cerebrale di ferro, tipo 1, forma atipica Neurodégénérescence avec surcharge cérébrale en fer de type 1, forme atypique PKAN, atypical form PKAN, atypische Form PKAN, forma atipica PKAN, forma atípica PKAN, forme atypique Atypical pantothenate kinase associated neurodegeneration Neurodegeneración asociada a pantotenato quinasa, forma atípica Neurodegenerazione associata a deficit di pantotenato chinasi, forma atipica Neurodegeneração associada a pantotenato cinase, forma atípica Neurodégénérescence associée à un déficit en panthoténate-kinase, forme atypique Pantothenat-Kinase-assoziierte Neurodegeneration, atypische Form hrdo:pat_id_1880 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Methylmercury+Compounds/ae+%28Abnormalities%2C+drug+induced+OR+embryopathy+OR+Prenatal+Exposure+Delayed+Effects%29+humans T56.1 1917 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Embriofetopatia por metilmercúrio fetal Enfermedad de Minamata Exposición prenatal a metilmercurio Exposition anténatale au méthyl-mercure Infezione prenatalae da metilmercurio Maladie de Minamata Malattia di Minamata Methyl mercury antenatal infection Methylquecksilber-Exposition, vorgeburtliche Minamata disease Minamata-Krankheit Quecksilber-Exposition, vorgeburtliche Embryopathie au méthyl-mercure Fetal methylmercury syndrome Methylquecksilber-Embryopathie Sindrome fetale da metilmercurio Síndrome de metilmercúrio fetal Síndrome del metilmercurio fetal hrdo:pat_id_18801 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 257220 607625 neant E75.2 216972 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Doença de Niemann-Pick tipo C perinatal grave Enfermedad de Niemann-Pick tipo C perinatal grave Maladie de Niemann-Pick type C périnatale sévère Malattia di Niemann-Pick, tipo C, forma perinatale grave Niemann-Pick disease type C, severe perinatal Niemann-Pick-Krankheit Typ C, schwere perinatale Form hrdo:pat_id_18802 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 257220 607625 neant E75.2 216975 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Doença de Niemann-Pick tipo C, com apresentação neurológica grave precoce do latente Enfermedad de Niemann-Pick tipo C grave, forma neurológica de aparición en la infancia temprana Maladie de Niemann-Pick type C sévère, forme neurologique précoce de l'enfant Malattia di Niemann-Pick, tipo C, con insorgenza infantile precoce grave del quadro neurologico Niemann-Pick disease type C, severe early infantile neurologic onset Niemann-Pick-Krankheit Typ C, schwere früh-infantile neurologische Form hrdo:pat_id_18803 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 257220 607625 neant E75.2 216978 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Doença de Niemann-Pick tipo C, com apresentação neurológica tardia do latente Enfermedad de Niemann-Pick tipo C, forma neurológica de aparición en la infancia tardía Maladie de Niemann-Pick type C, forme neurologique tardive de l'enfant Malattia di Niemann-Pick, tipo C, con insorgenza tardoinfantile del quadro neurologico Niemann-Pick disease type C, late infantile neurologic onset Niemann-Pick-Krankheit Typ C, spät-infantile neurologische Form hrdo:pat_id_18804 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 257220 607625 neant E75.2 216981 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Enfermedad de Niemann-Pick tipo C, forma clásica Maladie de Niemann-Pick type C, forme classique Malattia di Niemann-Pick, tipo C, forma classica Niemann-Pick disease type C, classic form Niemann-Pick-Krankheit Typ C, klassische Form Doença de Niemann-Pick tipo C com apresentação neurológica juvenil Enfermedad de Niemann-Pick tipo C, forma neurológica juvenil Maladie de Niemann-Pick type C, forme neurologique juvénile Malattia di Niemann-Pick, tipo C, con insorgenza giovanile del quadro neurologico Niemann-Pick disease type C, juvenile neurologic onset Niemann-Pick-Krankheit Typ C, juvenile neurologische Form hrdo:pat_id_18805 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 257220 607625 neant E75.2 216986 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Doença de Niemann-Pick tipo C com apresentação neurológica no adulto Enfermedad de Niemann-Pick tipo C, forma neurológica del adulto Maladie de Niemann-Pick type C, forme neurologique de l'adulte Malattia di Niemann-Pick, tipo C, con insorgenza del quadro neurologico nell'adulto Niemann-Pick disease type C, adult neurologic onset Niemann-Pick-Krankheit Typ C, adulte neurologische Form hrdo:pat_id_18806 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q81.2 216989 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype DDEB, Pasini type DDEB, tipo Pasini EBDD type Pasini Epidermólisis bullosa distrófica autosómica dominante tipo Pasini Autosomal dominant dystrophic epidermolysis bullosa, Pasini type Epidermolisi bollosa distrofica, autosomica dominante, tipo Pasini Epidermolyse bulleuse dystrophique autosomique dominante, type Pasini Epidermolysis bullosa, dystrophe, autosomal-dominante, Typ Pasini Epidermólise bolhosa distrófica tipo Pasini, autossómica dominante Epidermólisis ampollosa distrófica autosómica dominante tipo Pasini hrdo:pat_id_18807 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q27.4 217008 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Flebectasia diffusa genuina Flebectasia difusa genuina Genuine diffuse phlebectasia Phlebektasie, diffuse genuine Bockenheimer syndrome Bockenheimer-Syndrom Sindrome di Bockenheimer Syndrome de Bockenheimer Síndrome de Bockenheimer Síndrome de Bockenheimer hrdo:pat_id_18808 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 117210 neant G11 217012 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SCA31 SCA31 SCA31 SCA31 SCA31 SCA31 Atassia spinocerebellare, tipo 31 Ataxia espinocerebelosa tipo 31 Ataxia espinocerebelosa tipo 31 Ataxie spinocérébelleuse type 31 Ataxie, spinozerebelläre, Typ 31 Spinocerebellar ataxia type 31 hrdo:pat_id_18809 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 612916 neant Q87.8 217017 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cefalocele occipitale atresico - facies atipica - piedi grandi Encefalocele atrésico occipital - facies inusual - pies grandes Encéphalocèle atrétique occipitale - visage atypique - pieds larges Occipital atretic cephalocele - unusual facies - large feet Okzipitale atretische Zephalozele - ungewöhnliche Fazies - große Füße Sindrome di Zechi-Ceide Syndrome de Zechi-Ceide Síndrome de Zechi-Ceide Síndrome de Zechi-Ceide Zechi-Ceide syndrome Zechi-Ceide-Syndrom hrdo:pat_id_1881 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Phenobarbital/ae+%28Abnormalities%2C+drug+induced+OR+embryopathy+OR+Prenatal+Exposure+Delayed+Effects%29+humans Q86.8 1919 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Antiepileptika-Embryofetopathie Esposizione prenatale al fenobarbital Exposición fetal a fenobarbital Exposition anténatale au phénobarbital Fenobarbital fetal, síndrome Phenobarbital antenatal infection Phenobarbital-Exposition, vorgeburtliche Síndrome fenobarbital fetal Embriofetopatia por fenobarbital Embriopatia da fenobarbital Embriopatía por fenobarbital Embryopathie au phénobarbital Phenobarbital embryopathy Phenobarbital-Embryopathie hrdo:pat_id_18810 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 612926 neant D58.8 217023 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo etiological subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atypical hemolytic uremic syndrome with thrombomodulin anomaly Hämolytisch-urämisches Syndrom, atypische Form, mit Thrombomodulin-Anomalie Sindrome emolitico-uremica atipica con anomalia della trombomodulina Syndrome hémolytique et urémique atypique associé à une anomalie de la thrombomoduline Síndrome hemolítico y urémico atípico asociado a una anomalía de la trombomodulina Síndrome hemolítico-urémico atípico com anomalia da trombomodulina hrdo:pat_id_18811 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 612946 neant Q87.8 217026 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hadziselimovic syndrome Hadziselimovic-Syndrom Sindrome di Hadziselimovic Syndrome d'Hadziselimovic Síndrome de Hadziselimovic Microcefalia - síndrome facio-cardio-esquelético tipo Hadziselimovic Microcefalia - síndrome facio-cardio-esquelético, tipo Hadziselimovic Microcephalie - syndrome facio-cardio-quelettique, type Hadziselimovic Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type Mikrozephalie - fazio-kardio-skeletales Syndrom, Typ Hadziselimovic Sindrome microcefalia-facio-cardio-scheletrica, tipo Hadziselimovic hrdo:pat_id_18812 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 602025 neant E66.8 217031 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Adipositas durch MC3R-Mangel Obesidad debido a déficit de MC3R Obesidade por deficiência de MC3R Obesity due MC3R deficiency Obesità da deficit di MC3R Obésité due au déficit en MC3R hrdo:pat_id_18813 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 258150 270960 309120 neant 217034 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Azoospermia da arresto della maturazione Azoospermia da difetto della meiosi Azoospermia due to maturation arrest Azoospermia due to meiosis defect Azoospermia por anomalía en la meiosis Azoospermia por detención de la maduración Azoospermie due à un arrêt de maturation Azoospermie due à une anomalie de la méiose Azoospermie durch Meiose-Defekt Azoospermie durch Reifungsarrest Infertilidad masculina con virilización normal debido a detención de la maduración Infertilité masculine avec virilisation normale due à un arrêt de la maturation Male infertility with normal virilization due to maturation arrest Männliche Infertilität bei normaler Virilisierung durch Reifungsarrest Sterilità maschile con virilizzazione normale da arresto della maturazione Infertilidad masculina con virilización normal debido a anomalía en la meiosis Infertilidade masculina com virilização normal por anomalia na meiose Infertilità maschile con virilizzazione normale da difetto meiotico Infertilité masculine avec virilisation normale due à une anomalie de la méiose Male infertility with normal virilization due to meiosis defect Männliche Infertilität bei normaler Virilisierung durch Meiose-Defekt hrdo:pat_id_18814 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 611391 neant H26.0 217046 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Autosomal recessive childhood-onset cortical cataract Cataracte corticale de l'enfant autosomique récessive Catarata cortical de aparición infantil autosómica recesiva Cataratas corticais, de apresentação na infância Cataratta corticale autosomica recessiva a esordio nell'infanzia Katarakt, kortikale, im Kindesalter hrdo:pat_id_18815 217049 group of phenomes Cataracte rare non syndromique Catarata rara no sindrómica Cataratas não sindrómicas, raras Cataratta non sindromica rara Katarakt, seltene, nicht-syndromale Rare non-syndromic cataract hrdo:pat_id_18816 115660 115700 601547 610202 611391 614422 neant H26.0 217052 disease Cataracte non syndromique à début précoce Catarata no sindrómica de aparición temprana Cataratas não sindrómicas, de apresentação precoce Cataratta non sindromica ad esordio precoce Early-onset non-syndromic cataract Katarakt, frühmanifeste, nicht-syndromale hrdo:pat_id_18817 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 608340 neant G60.0 217055 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 RI-CMT tipo A RI-CMT type A RI-CMT type A RI-CMT, tipo A Autosomal recessive intermediate Charcot-Marie-Tooth disease type A Charcot-Marie-Tooth-Krankheit, intermediäre, autosomal-rezessive, Typ A Doença de Charcot-Marie-Tooth tipo A, intermédia, autossómica recessiva Enfermedad de Charcot-Marie-Tooth intermedia autosómica recesiva tipo A Maladie de Charcot-Marie-Tooth intermédiaire autosomique récessive type A Malattia di Charcot-Marie-Tooth intermedia, autosomica recessiva, tipo A hrdo:pat_id_18818 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 119900 neant Q68.1 217059 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Acropachia congenita isolata Acropachie isolée congénitale Acropaquia aislada congénita Akropachie, isolierte kongenitale Isolated congenital acropachy Isolated congenital nail clubbing Baqueteamento digital congénito, isolado Hipocratismo digital aislado congénito Hippocratisme digital congénital isolé Ippocratismo digitale congenito isolato Isolated congenital digital clubbing Trommelschlägelfinger, isolierte kongenitale hrdo:pat_id_18819 neant T45.1 217064 particular clinical situation in a disease or syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 5-fluorouracil intoxication Intossicazione da 5-fluorouracile Intoxicación por 5-fluorouracilo Surdosage en 5-fluorouracile 5-Fluorouracil-Überdosis 5-fluorouracil poisoning Avvelenamento da 5-fluorouracile Envenenamiento por 5-fluorouracilo Intoxication au 5-fluorouracile Sobredosagem de 5-fluorouracilo hrdo:pat_id_1882 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=toluene%5Bmh%5D+%28Abnormalities%2C+drug+induced+OR+embryopathy+OR+Prenatal+Injuries%29+humans%5Bmh%5D+OR+Toluene+embryopathy%5Btw%5D Q86.8 1920 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Esposizione prenatale al toluene Exposición fetal a tolueno Exposition anténatale au toluène Síndrome tolueno fetal Toluene antenatal infection Tolueno fetal, síndrome Toluol-Exposition, vorgeburtliche Embriofetopatia por tolueno Embriopatia da toluene Embriopatía por tolueno Embryopathie au toluène Toluene embryopathy Toluol-Embryopathie hrdo:pat_id_18820 D019449 10036463 217067 C0376620 particular clinical situation in a disease or syndrome 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Bolsite Pouchite Pouchite Pouchitis Pouchitis Pouchitis hrdo:pat_id_18821 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D002292 10067946 neant C64 217071 41607009 C0007134 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Non-familial RCC RCC RCC no familiar RCC non familial Carcinoma de células renais Carcinoma de células renales no familiar Carcinoma delle cellule renali Carcinome rénal non familial Nierenzellkarzinom Non-familial renal cell carcinoma hrdo:pat_id_18822 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D010190 10033604 10033609 neant C25 217074 372142002 C0235974 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Bauchspeicheldrüsenkrebs Cancer pancréatique Cancro pancreatico Cáncer pancreático Pancreatic cancer Carcinoma pancreatico Carcinoma pancreático Carcinoma pancreático Carcinome pancréatique Pancreatic carcinoma Pankreaskarzinom hrdo:pat_id_18823 217080 particular clinical situation in a disease or syndrome 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Infecciones pulmonares fúngicas en pacientes considerados en riesgo Infezioni polmonari fungine nei pazienti ritenuti a rischio Infeções pulmonares fúngicas em doentes considerados em risco Prévention des infections fongiques pulmonaires chez les patients à risque Pulmonale Pilzinfektion bei Risiko-Patienten Pulmonary fungal infections in patients deemed at risk hrdo:pat_id_18824 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant E76.1 217085 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficit di iduronato 2-solfatasi, tipo A Déficit de iduronato-2-sulfatasa tipo A Déficit en iduronate 2-sulfatase type A Hunter syndrome type A Hunter-Syndrom Typ A Iduronat 2-Sulfatase-Mangel Typ A Iduronate 2-sulfatase deficiency type A Maladie de Hunter type A Sindrome di Hunter, tipo A Síndrome de Hunter tipo A Mucopolisacaridosis tipo 2A Mucopolisaccaridosi, tipo 2A Mucopolissacaridose tipo 2A Mucopolysaccharidose type 2A Mucopolysaccharidosis type 2A Mukopolysaccharidose Typ 2A hrdo:pat_id_18825 Variabel Variabile Variable Variable Variable Variable Variável neant E76.1 217093 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficit di iduronato 2-solfatasi, tipo B Déficit de iduronato-2-sulfatasa tipo B Déficit en iduronate 2-sulfatase type B Hunter syndrome type B Hunter-Syndrom Typ B Iduronat 2-Sulfatase-Mangel Typ B Iduronate 2-sulfatase deficiency type B Maladie de Hunter type B Sindrome di Hunter, tipo B Síndrome de Hunter tipo B Mucopolisacaridosis tipo 2B Mucopolisaccaridosi, tipo 2B Mucopolissacaridose tipo 2B Mucopolysaccharidose type 2B Mucopolysaccharidosis type 2B Mukopolysaccharidose Typ 2B hrdo:pat_id_18827 Variabel Variabile Variable Variable Variable Variable Variável neant G13.1 217253 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Encefalite limbica associata ad anticorpi anti-recettore N-metil-D-aspartasi Encefalitis límbica con anticuerpos anti-receptor N-metil-D-aspartato Encéphalite limbique avec anticorps anti-récepteur N-méthyl-D-aspartate Limbic encephalitis with N-methyl-D-aspartate receptor antibodies Limbische Enzephalitis mit assoziierten NMDA (N-Methyl-D-Aspartat)-Rezeptor-Antikörpern Anti-NMDA-Rezeptor-Enzephalitis Encefalite limbica associata ad anticorpi anti-recettore NMDA Encefalite límbica associada a anticorpos do recetor NMDA Encefalitis límbica con anticuerpos anti-receptor NMDA Encéphalite limbique avec anticorps anti-récepteur NMDA Limbic encephalitis with NMDA receptor antibodies hrdo:pat_id_18828 Variabel Variabile Variable Variable Variable Variable Variável D007968 10036807 217260 22255007 C0023524 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Leucoencefalite multifocale progressiva Leucoencefalitis multifocal progresiva Leucoencéphalite multifocale progressive Leukoenzephalitis, multifokale progressive Progressive multifocal leukoencephalitis Leucoencefalite multifocal progressiva Leucoencefalopatia multifocale progressiva Leucoencefalopatía multifocal progresiva Leucoencéphalopathie multifocale progressive Leukoenzephalopathie, multifokale progressive Progressive multifocal leukoencephalopathy hrdo:pat_id_18829 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 608980 neant Q87.8 217266 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Bifid nose with or without anorectal and renal anomalies Bifide Nase mit/ohne anorektale und renale Anomalien Nariz bífida con o sin anomalías anorrectales y renales Naso bifido con o senza anomalie renali e ano-rettali Naso bifido con o senza anomalie renali e anorettali Nez bifide avec ou sans anomalies anorectales et rénales BNAR syndrome BNAR-Syndrom Sindrome BNAR Syndrome BNAR Síndrome BNAR Síndrome de BNAR hrdo:pat_id_18844 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 605685 neant 217315 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cutis verticis gyrata - Retinitis pigmentosa - neurosensorische Schwerhörigkeit Cutis verticis gyrata - Retinitis pigmentosa - neurosensorischer Hörverlust Cutis verticis gyrata - Retinitis pigmentosa - sensorineuraler Hörverlust Cutis verticis gyrata - retinite pigmentosa - perdita dell'udito neurosensoriale Cutis verticis gyrata - retinitis pigmentosa - neurosensory deafness Cutis verticis gyrata - retinitis pigmentosa - neurosensory hearing loss Cutis verticis gyrata - retinitis pigmentosa - sensorineural hearing loss Pachydermie plicaturée du cuir chevelu - rétinite pigmentaire - surdité de perception Pachydermie vorticellée du cuir chevelu - rétinite pigmentaire - surdité de perception Pachydermie vorticellée du cuir chevelu - rétinite pigmentaire - surdité neurosensorielle Cutis verticis gyrata - Retinitis pigmentosa - sensorineurale Schwerhörigkeit Cutis verticis gyrata - retinite pigmentosa - sordità neurosensoriale Cutis verticis gyrata - retinite pigmentosa - surdez neurossensorial Cutis verticis gyrata - retinitis pigmentosa - sensorineural deafness Cutis verticis gyrata - retinosis pigmentaria - sordera neurosensorial Pachydermie plicaturée du cuir chevelu - rétinite pigmentaire - surdité neurosensorielle hrdo:pat_id_18845 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 613092 neant 217330 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Enfermedad renal asociada a REN FJHN Typ 2 FJHN associata a REN FJHN associé à REN FJHN type 2 FJHN type 2 FJHN, tipo 2 Familial juvenile hyperuricemic nephropathy type 2 Malattia renale associata a REN NHJF asociada a REN NHJF tipo 2 Nefropatia iperuricemica giovanile familiare associata a REN Nefropatia iperuricemica giovanile familiare, tipo 2 Nefropatía hiperuricémica juvenil familiar asociada a REN Nefropatía hiperuricémica juvenil familiar tipo 2 Nephropathie, familiäre hyperurikämische juvenile, Typ 2 Néphropathie hyperuricémique juvénile familiale associée à REN Néphropathie hyperuricémique juvénile familiale type 2 REN-associated FJHN REN-associated familial juvenile hyperuricemic nephropathy REN-associated kidney disease REN-assoziierte FJHN REN-assoziierte Nierenkrankheit REN-assoziierte familiäre juvenile hyperurikämische Nephropathie Hiperuricemia - anemia - insuficiência renal Hiperuricemia - uremia - insuficiencia renal Hyperuricemia - anemia - renal failure Hyperuricémie - anémie - insuffisance rénale Hyperurikämie - Anämie - Nierenversagen Iperuricemia - anemia - insufficienza renale hrdo:pat_id_18846 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613075 neant Q82.8 217335 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficiencia de RIN2 Déficit de RIN2 Déficit en RIN2 Macrocefalia - alopecia - cutis laxa - escoliosis Macrocefalia - alopecia - cutis laxa - scoliosi Macrocephaly - alopecia - cutis laxa - scoliosis Macrocéphalie - alopécie - cutis laxa - scoliose Makrozephalie - Alopezie - Cutis laxa - Skoliose RIN2 deficiency RIN2 syndrome Syndrome RIN2 Síndrome RIN2 MACS syndrome MACS-Syndrom Sindrome MACS Syndrome MACS Síndrome MACS Síndrome de MACS hrdo:pat_id_18847 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613533 neant Q92.3 217340 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Dup(17)(q21.31) Dup(17)(q21.31) Dup(17)(q21.31) Dup(17)(q21.31) Dup(17)(q21.31) Trisomia 17q21.31 Trisomie 17q21.31 Trisomie 17q21.31 Trisomy 17q21.31 Trisomía 17q21.31 17q21.31 microduplication syndrome Mikroduplikationssyndrom 17q21.31 Sindrome da microduplicazione 17q21.31 Syndrome de microduplication 17q21.31 Síndrome de microduplicación 17q21.23 Trissomia 17q21.31 hrdo:pat_id_18848 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613026 neant Q93.5 217346 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Del(19)(q13.11) Del(19)(q13.11) Del(19)(q13.11) Del(19)(q13.11) Del(19)(q13.11) Monosomia 19q13.1 Monosomie 19q13.1 Monosomie 19q13.11 Monosomy 19q13.11 Monosomía 19q13.11 19q13.11 microdeletion syndrome Mikrodeletionssyndrom 19q13.11 Monossomia 19q13.11 Sindrome da microdelezione 19q13.11 Syndrome de microdélétion 19q13.11 Síndrome de microdeleción 19q13.11 hrdo:pat_id_18849 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613070 neant 217371 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acute infantile liver failure due to mitochondrial DNA-encoded proteins synthesis defect Insufficienza epatica infantile acuta da difetto della sintesi delle proteine codificate dal DNA mitocondriale Insuffisance hépatique infantile aiguë due à un défaut de synthèse des protéines codées par l'ADN mitochondrial Insuficiencia hepática infantil aguda debido a un defecto de síntesis de las proteínas codificadas por el ADN mitocondrial Leberversagen, infantiles, transientes Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect Akutes Leberversagen des Kindes durch mtDNA-kodierenden Proteinsynthese-Defekt Insufficienza epatica infantile acuta da difetto della sintesi delle proteine codificate da mtDNA Insuffisance hépatique infantile aiguë due à un défaut de synthèse des protéines codées par l'ADNmt Insuficiencia hepática infantil aguda debido a un defecto de síntesis de las proteínas codificadas por el ADNmt Insuficiência hepática por deficiência na síntese de proteínas codificadas pelo mtDNA hrdo:pat_id_1885 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Methimazole%5Bmh%5D+%28Abnormalities%2C+drug+induced+OR+embryopathy+OR+Prenatal+Injuries%29+humans%5Bmh%5D Q86.8 1923 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Embriopatía por antitiroideos Exposition anténatale au méthimazole Methimazol-Exposition, vorgeburtliche Embriofetopatia por metimazol Embriopatia da metimazolo Embriopatía por metimazol Embryofoetopathie au méthimazole Methimazol-Embryopathie Methimazole embryofetopathy hrdo:pat_id_18850 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300801 neant Q99.8 217377 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Esporádica Esporádico Ligado ao X dominante Sporadic Sporadic Sporadica Sporadique Sporadisch X-chromosomal-dominant X-linked dominant X-linked dominant malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Trisomia Xp11.22-p11.23 Trisomie Xp11.22-p11.23 Trisomie Xp11.22-p11.23 Trisomy Xp11.22-p11.23 Trisomía Xp11.22-p11.23 Microduplication Xp11.22-p11.23 syndrome Mikroduplikations-Syndrom Xp11.22-p11.23 Sindrome da microduplicazione Xp11.22-p11.23 Syndrome de microduplication Xp11.22-p11.23 Síndrome de microduplicación Xp11.22-p11.23 Trissomia Xp11.22-p11.23 hrdo:pat_id_18851 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613068 neant G31.8 217382 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Folattransportdefizienz, zerebrale Neurodegenerative syndrome due to cerebral folate transport deficiency Neurodegeneratives Syndrom durch zerebrale Folattransportstörung Sindrome neurodegenerativa da deficit di trasporto dei folati cerebrali Syndrome neurodégénératif dû au déficit de transport cérébral des folates Síndrome neurodegenerativa por deficiência no transporte cerebral de folato Síndrome neurodegenerativo debido a déficit de transporte cerebral de folatos hrdo:pat_id_18852 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613215 neant Q92.3 217385 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 17p13.3 duplication syndrome Dup(17)(p13.3) Dup(17)(p13.3) Dup(17)(p13.3) Dup(17)(p13.3) Dup(17)(p13.3) Sindrome da duplicazione 17p13.3 Syndrome de duplication 17p13.3 Síndrome de duplicación 17p13.3 Trisomia 17p13.3 Trisomie 17p13.3 Trisomie 17p13.3 Trisomy 17p13.3 Trisomía 17p13.3 17p13.3 microduplication syndrome Mikroduplikationssyndrom 17p13 Sindrome da microduplicazione 17p13.3 Syndrome de microduplication 17p13.3 Síndrome de microduplicación 17p13.3 Trissomia 17p13 hrdo:pat_id_18853 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 243700 neant D81.1 217390 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo etiological subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CID da deficit di DOCK8 CID due to DOCK8 deficiency CID por deficiencia de DOCK8 CID por déficit de DOCK8 Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency DOCK8 immunodeficiency syndrome Déficit immunitaire combiné par déficit en dedicator of cytokinesis 8 Immundefekt, kombinierter schwerer, durch DOCK8-Defekt Immunodeficienza combinata da deficit del dedicatore della proteina di citochinesi 8 Inmunodeficiencia combinada por deficiencia de DOCK8 Inmunodeficiencia combinada por déficit de dedicador de la proteina citocinesis 8 SCID durch DOCK8-Mangel Sindrome da immunodeficienza DOCK8 Síndrome de inmunodeficiencia DOCK8 Combined immunodeficiency due to DOCK8 deficiency Déficit immunitaire combiné par déficit en DOCK8 Immundefekt, kombinierter schwerer, durch DOCK8-Genmutation Immunodeficienza combinata da deficit di DOCK8 Imunodeficiência combinada grave por deficiência de DOCK8 Inmunodeficiencia combinada por déficit de DOCK8 hrdo:pat_id_18854 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 613710 neant 217396 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Neuropathie démyélinisante progressive avec nécrose striatale bilatérale Neuropatia demielinizzante progressiva con necrosi striatale bilaterale Neuropatia desmielinizante progressiva com necrose bilateral do estriado Neuropatía desmielinizante progresiva con necrosis estriatal bilateral Polyneuropathie, demyelinisierende progressive, mit bilateraler striataler Nekrose Progressive demyelinating neuropathy with bilateral striatal necrosis hrdo:pat_id_18855 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 217399 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Analgesia congenita con iperidrosi Analgesia congénita con hiperhidrosis Analgesie mit Hyperhidrose, kongenital Analgésie congénitale avec hyperhidrose Assenza congenita di dolore con iperidrosi Ausencia congénita de dolor con hiperhidrosis Congenital absence of pain with hyperhidrosis Congenital analgesia with hyperhidrosis Congenital indifference to pain with hyperhidrosis Indiferencia congénita al dolor con hiperhidrosis Indifférence congénitale à la douleur avec hyperhidrose Kongenitale Schmerzunempfindlichkeit mit Hyperhidrose indifferenza congenita al dolore con iperidrosi Congenital insensitivity to pain with hyperhidrosis Insensibilidad congénita al dolor con hiperhidrosis Insensibilidade congénita à dor com hiperhidrose Insensibilità al dolore con iperidrosi Insensibilité congénitale à la douleur avec hyperhidrose Schmerzunempfindlichkeit, kongenitale, mit Hyperhidrose hrdo:pat_id_18856 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613102 neant 217407 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hereditary hypotrichosis with recurrent skin vesicles Hipotricose hereditária com vesículas cutâneas recorrentes Hipotricosis hereditaria con vesículas cutáneas recurrentes Hypertrichose, hereditäre, mit rekurrenten Hautläsionen Hypotrichose héréditaire avec recurrence de vesicules cutanées Ipotricosi ereditaria con vescicole cutanee ricorrenti hrdo:pat_id_18857 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant D18.1 217410 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype Circumscribed lymphangioma Linfangioma circoscritto Linfangioma circunscrito Lymphangiom, zirkumskriptes Lymphangiome circonscrit Circumscribed lymphatic malformation Lymphatische Fehlbildung, zirkumskripte Malformación linfática circunscrita Malformation lymphatique circonscrite Malformazione linfatica circoscritta Malformação linfática circunscrita hrdo:pat_id_18858 neant D68.5 217454 group of phenomes Rare hereditary thrombophilia Thrombophilie héréditaire rare Thrombophilie, hereditäre, seltene Trombofilia ereditaria rara Trombofilia hereditaria rara Trombofilia hereditária rara hrdo:pat_id_18859 613116 neant D68.5 217467 disease Hereditary thrombophilia due to congenital HRG deficiency Thrombophilie héréditaire due au déficit congénital en HRG Thrombophilie, hereditäre, durch kongenitalen HRG-Mangel Trombofilia ereditaria da deficit congenito di HRG Trombofilia hereditaria por déficit congénito de HRG Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency Thrombophilie héréditaire due au déficit congénital en histidine-rich (poly-L) glycoprotéine Thrombophilie, hereditäre, durch kongenitalen Mangel des Histidin-reichen (poly-L) Glykoproteins Trombofilia ereditaria da deficit congenito di glicoproteina ricca in istidina (poli-L) Trombofilia hereditaria debido a déficit congénito de glicoproteína rica en histidina (poli-L) Trombofilia hereditária por deficiência congénita da glicoproteina rica em histidina (poly-L) hrdo:pat_id_18860 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 217557 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Infantile cellular interstitial pneumonitis Neumonitis intersticial celular infantil PIG PIG PIG Pneumonite interstitielle cellulaire infantile Pneumonitis , infantile interstitielle zelluläre Polmonite interstiziale cellulare infantile Glicogenose intersticial pulmonar Glicogenosi interstiziale polmonare Glucogenosis pulmonar intersticial Glycogénose interstitielle pulmonaire Glykogenose, interstitielle pulmonale Pulmonary interstitial glycogenosis hrdo:pat_id_18861 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 217560 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown NCHI NCHI NEHI NEHI NEHI Hiperplasia celular neuroendócrina, do latente Hiperplasia de células neuroendocrinas de la infancia Hyperplasie des cellules neuroendocrines du nourrisson Iperplasia infantile delle cellule neuroendocrine Neuroendocrine cell hyperplasia of infancy Neuroendokrine Zellhyperplasie der Kindheit hrdo:pat_id_18862 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant 217563 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Akute neonatale Atemnot mit Stoffwechseldefekt des Surfactant-Systems Distress respiratorio acuto neonatale con deficit del metabolismo del surfattante Distrés respiratorio agudo neonatal con déficit de metabolismo del surfactante Détresse respiratoire aiguë néonatale avec déficit du métabolisme des surfactants Insuficiência respiratória aguda neonatal com deficiência no metabolismo do surfactante Neonatal acute respiratory distress with surfactant metabolism deficiency hrdo:pat_id_18863 Variabel Variabile Variable Variable Variable Variable Variável 610913 neant 217566 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Chronic respiratory distress with surfactant metabolism deficiency Chronische Atemnot mit Stoffwechseldefekt des Surfactant-Systems Distress respiratorio cronico con deficit del metabolismo del surfattante Distrés respiratorio crónico con déficit de metabolismo del surfactante Détresse respiratoire chronique avec déficit du métabolisme des surfactants Insuficiência respiratória crónica com deficiência no metabolismo do surfactante hrdo:pat_id_18864 D002312 10020871 217569 233873004 45227007 C0007194 group of phenomes Cardiomiopatia ipertrofica ostruttiva Cardiomyopathie hypertrophique obstructive Estenosis subaórtica hipertrófica Hypertrophic subaortic stenosis Kardiomyopathie, hypertrophe obstruktive Miocardiopatía hipertrófica obstructiva Myocardiopathie hypertrophique obstructive Obstructive hypertrophic cardiomyopathy Rétrecissement sous-aortique hypertrophique Stenosi ipertrofica subaortica Sténose sous-aortique hypertrophique Subaortenstenose, hypertrophe Cardiomiopatia ipertrofica Cardiomyopathie hypertrophique Hypertrophic cardiomyopathy Kardiomyopathie, hypertrophe Miocardiopatia hipertrófica Miocardiopatía hipertrófica hrdo:pat_id_18865 neant E74.0 217572 group of phenomes GSD avec cardiomyopathie hypertrophique GSD con cardiomiopatia ipertrofica GSD con miocardiopatía hipertrófica GSD mit hypertropher Kardiomyopathie GSD with hypertrophic cardiomyopathy Glicogenosi con cardiomiopatia ipertrofica Glucogenosis con miocardiopatía hipertrófica Glycogenosis with hypertrophic cardiomyopathy Glycogénose avec cardiomyopathie hypertrophique Glykogenose mit hypertropher Kardiomyopathie Doença do armazenamento do glicogénio com miocardiopatia hipertrófica Enfermedad del almacenamiento de glucógeno con miocardiopatía hipertrófica Glycogen storage disease with hypertrophic cardiomyopathy Glykogen-Speicherkrankheit mit hypertropher Kardiomyopathie Maladie de stockage du glycogène avec cardiomyopathie hypertrophique Malattia da accumulo di glicogeno con cardiomiopatia ipertrofica hrdo:pat_id_18866 217581 group of phenomes Doença lisossomal com miocardiopatia hipertrófica Enfermedad lisosomal con miocardiopatía hipertrófica Lysosomal disease with hypertrophic cardiomyopathy Lysosomale Krankheit mit hypertropher Kardiomyopathie Maladie lysosomale avec cardiomyopathie hypertrophique Malattia lisosomiale con cardiomiopatia ipertrofica hrdo:pat_id_18868 217587 group of phenomes Doença mitocondrial com miocardiopatia hipertrófica Enfermedad mitocondrial con miocardiopatía hipertrófica Maladie mitochondriale avec cardiomyopathie hypertrophique Malattia mitocondriale con cardiomiopatia ipertrofica Mitochondrial disease with hypertrophic cardiomyopathy Mitochondriale Krankheit mit hypertropher Kardiomyopathie hrdo:pat_id_18869 217591 group of phenomes Anomalie de l'oxydation des acides gras et de la cétogénèse avec cardiomyopathie hypertrophique Difetto dell'ossidazione degli acidi grassi e della chetogenesi con cardiomiopatia ipertrofica Doença da oxidação dos ácidos gordos e cetogénese com miocardiopatia hipertrófica Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy Fettsäureoxidationsstörung und Ketogenese-Defekt mit hypertropher Kardiomyopathie Trastorno de la cetogénesis y de la oxidación de los ácidos grasos con miocardiopatía hipertrófica hrdo:pat_id_18870 217595 group of phenomes Seltenes Syndrom mit assoziierter hypertropher Kardiomyopathie Sindrome associata a cardiomiopatia ipertrofia Syndrome associated with hypertrophic cardiomyopathy Syndrome associé à une cardiomyopathie hypertrophique Síndrome asociado a una miocardiopatía hipertrófica Síndrome associado a miocardiopatia hipertrófica hrdo:pat_id_18871 217598 group of phenomes Cardiomiopatía hipertrófica no familiar Cardiomiopatia ipertrofica non familiare Cardiomyopathie hypertrophique non familiale Kardiomyopathie, hypertrophe, nicht-familiäre Form Miocardiopatia hipertrófica não familiar Miocardiopatía hipertrófica no familiar Non-familial hypertrophic cardiomyopathy hrdo:pat_id_18872 217601 disease Cardiomiopatía hipertrófica por entrenamiento atlético intensivo Cardiomiopatia ipertrofica da allenamento atletico intenso Cardiomyopathie hypertrophique due à un entrainement athlétique intensif Hypertrophe Kardiomyopathie durch intensives athletisches Training Hypertrophic cardiomyopathy due to intensive athletic training Miocardiopatia hipertrófica por exercício físico excessivo Miocardiopatía hipertrófica por entrenamiento atlético intensivo hrdo:pat_id_18873 D002311 10056370 217604 195021004 399020009 C0007193 group of phenomes DCM Cardiomiopatia dilatativa Cardiomyopathie dilatée Dilated cardiomyopathy Kardiomyopathie, dilatative Miocardiopatia dilatada Miocardiopatía dilatada hrdo:pat_id_18874 C536231 217607 52029003 C0340427 group of phenomes Cardiomiopatia dilatativa familiare Cardiomyopathie dilatée familiale Familial dilated cardiomyopathy Kardiomyopathie, dilatative, familiäre Form Miocardiopatia dilatada, familiar Miocardiopatía dilatada familiar hrdo:pat_id_18875 217610 group of phenomes Doença neuromuscular com miocardiopatia dilatada Enfermedad neuromuscular con miocardiopatía dilatada Maladie neuromusculaire avec cardiomyopathie dilatée Malattia neuromuscolare con cardiomiopatia dilatativa Neuromuscular disease with dilated cardiomyopathy Neuromuskuläre Krankheit mit dilatativer Kardiomyopathie hrdo:pat_id_18876 217613 group of phenomes Doença mitocondrial com miocardiopatia dilatada Enfermedad mitocondrial con miocardiopatía dilatada Maladie mitochondriale avec cardiomyopathie dilatée Malattia mitocondriale con cardiomiopatia dilatativa Mitochondrial disease with dilated cardiomyopathy Mitochondriale Krankheit mit dilatativer Kardiomyopathie hrdo:pat_id_18877 217616 group of phenomes Anomalie de l'oxydation des acides gras et de la cétogénèse avec cardiomyopathie dilatée Difetto dell'ossidazione degli acidi grassi e della chetogenesi con cardiomiopatia dilatativa Doença da oxidação dos ácidos gordos e cetogénese com miocardiopatia dilatada Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy Fettsäureoxidationsstörung und Ketogenese-Defekt mit dilatativer Kardiomyopathie Trastorno de la cetogénesis y de la oxidación de los ácidos grasos con miocardiopatía dilatada hrdo:pat_id_18878 217619 group of phenomes Seltenes Syndrom mit assoziierter dilatativer Kardiomyopathie Sindrome associata a cardiomiopatia dilatativa Syndrome associated with dilated cardiomyopathy Syndrome associé à une cardiomyopathie dilatée Síndrome asociado a una miocardiopatía dilatada Síndrome associado a miocardiopatia dilatada hrdo:pat_id_18879 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 605362 neant 217622 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hipoacusia neurosensorial con miocardiopatía dilatada Innenohrschwerhörigkeit mit dilatativer Kardiomyopathie Neurosensorischer Hörverlust mit dilatativer Kardiomyopathie Neurosensory deafness with dilated cardiomyopathy Neurosensory hearing loss with dilated cardiomyopathy Perdita dell'udito neurosensoriale con cardiomiopatia dilatativa Sensorineural hearing loss with dilated cardiomyopathy Surdité de percéption avec cardiomyopathie dilatée Sensorineural deafness with dilated cardiomyopathy Sensorineurale Schwerhörigkeit mit dilatativer Kardiomyopathie Sordera neurosensorial con miocardiopatía dilatada Sordità neurosensoriale con cardiomiopatia dilatativa Surdez neurossensorial com miocardiopatia dilatada Surdité neurosensorielle avec cardiomyopathie dilatée hrdo:pat_id_1888 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance P00.8 1926 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Diabetes-Embryopathie Diabetic embryopathy Embriopatia diabetica Embriopatia diabética Embriopatía diabética Embryopathie diabétique hrdo:pat_id_18880 217629 group of phenomes Cardiomiopatia dilatativa non familiare Cardiomyopathie dilatée non familiale Kardiomyopathie, dilatative, nicht-familiäre Form Miocardiopatia dilatada não-familiar Miocardiopatía dilatada no familiar Non-familial dilated cardiomyopathy hrdo:pat_id_18881 D002313 10038748 217632 415295002 90828009 C0007196 group of phenomes Cardiomiopatía restrictiva Cardiomiopatia restrittiva Cardiomyopathie restrictive Kardiomyopathie, restriktive Miocardiopatia restritiva Miocardiopatía restrictiva Restrictive cardiomyopathy hrdo:pat_id_18882 217635 233878008 C0340429 group of phenomes Cardiomiopatía restrictiva familiar Cardiomiopatia restrittiva familiare Cardiomyopathie familiale restrictive Familial restrictive cardiomyopathy Kardiomyopathie, restriktive, familiäre Form Miocardiopatia restritiva familiar Miocardiopatía restrictiva familiar hrdo:pat_id_18883 217638 group of phenomes Doença lisossomal com miocardiopatia restritiva Enfermedad lisosomal con miocardiopatía restrictiva Lysosomal disease with restrictive cardiomyopathy Lysosomale Krankheit mit restriktiver Kardiomyopathie Maladie lysosomale avec cardiomyopathie restrictive Malattia lisosomiale con cardiomiopatia restrittiva hrdo:pat_id_18885 107970 600996 602086 602087 604400 604401 607450 609040 610193 610476 611528 neant I42.8 217656 disease ARVC familiale isolée ARVC familiar aislada ARVC isolata familiare ARVC, familiäre isolierte ARVD familiale isolée ARVD familiar aislada ARVD isolata familiare ARVD, familiäre isolierte Arrhythmogene rechtsventrikuläre Dysplasie (ARVD), familiäre isolierte CVDA familiale isolée Cardiomiopatia artimogena isolata familiare del ventricolo destro Cardiomiopatia ventricolare aritmogena isolata familiare Cardiomyopathie ventriculaire arythmogène familiale isolée Cardiomyopathie ventriculaire droite arythmogène familiale isolée DVDA familiale isolée Displasia ventricolare aritmogena isolata familiare Displasia ventricular arritmogénica aislada familiar Familial isolated ARVC Familial isolated ARVD Familial isolated arrhythmogenic right ventricular cardiomyopathy Familial isolated arrhythmogenic ventricular cardiomyopathy Familial isolated arrhythmogenic ventricular dysplasia Kardiomyopathie, arrhythmogene familiäre isolierte rechtsventrikuläre Miocardiopatía ventricular arritmogénica aislada familiar Miocardiopatía ventricular derecha arritmogénica aislada familiar Arrhythmogene rechtsventrikuläre Dysplasie, familiäre isolierte Cardiomiopatia isolada do ventrículo direito familiar Displasia aritmogena isolata familiare del ventricolo destro Displasia ventricular derecha arritmogénica familiar aislada Dysplasie ventriculaire droite arythmogène familiale isolée Familial isolated arrhythmogenic right ventricular dysplasia hrdo:pat_id_18887 217678 group of phenomes Cardiomiopatía no clasificada Cardiomiopata non classificata Cardiomyopathie non classée Kardiomyopathie, nicht klassifizierte Miocardiopatia não-classificada Miocardiopatía no clasificada Unclassified cardiomyopathy hrdo:pat_id_18889 217720 group of phenomes Cardiomiopatía restrictiva no familiar Cardiomiopatia restrittiva non familiare Cardiomyopathie restrictive non familiale Kardiomyopathie, restriktive, nicht-familiäre Form Miocardiopatia restritiva, não familiar Miocardiopatía restrictiva no familiar Non-familial restrictive cardiomyopathy hrdo:pat_id_1889 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 261600 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%28neonatal%5Bti%5D+OR+Maternal%5BTW%5D+OR+fetus%5Bti%5D%29+AND+phenylketonuria%5Bti%5D%29+OR+%22phenylketonuria%2C+maternal%22%5BMH%5D E70.1 P00.8 2209 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Embriopatia da iperfenilalaninemia Embriopatia fenilcetonúrica Embriopatia fenilchetonurica Embriopatia hiperfenilalaninémica Embriopatía fenilcetonúrica Embriopatía hiperfenilalaninémica Embryopathie hyperphénylalaninémique Embryopathie phénylcétonurique Embryopathie, phenylketonurische Fenilcetonuria materna Fenilchetonuria materna Hyperphenylalanin-Embryopathie Hyperphenylalaninemic embryopathy Maternal PKU Maternal phenylketonuria PCU maternelle PKU materna PKU materna PKU maternelle PKU, maternale Phenylketonuric embryopathy Phénylcétonurie maternelle Hiperfenilalaninemia materna Hiperfenilalaninemia materna Hyperphenylalaninämie, maternale Hyperphénylalaninémie maternelle Iperfenilalaninemia materna Maternal hyperphenylalaninemia hrdo:pat_id_18897 612422 neant I42.5 218432 etiological subtype Cardiomiopatía restrictiva familiar tipo 3 RCM3 RCM3 RCM3 RCM3 Cardiomiopatia restrittiva familiare, tipo 3 Cardiomyopathie restrictive familiale type 3 Familial restrictive cardiomyopathy type 3 Kardiomyopathie, restriktive, familiäre Form, Typ 3 Miocardiomiopatia restritiva tipo 3, familiar Miocardiopatía restrictiva familiar tipo 3 hrdo:pat_id_18898 218436 group of phenomes Doença do ritmo cardíaco Enfermedad rara del ritmo cardiaco Herzrhythmusstörung Malattia rara del ritmo cardiaco Rare cardiac rythm disease Trouble rare du rythme cardiaque hrdo:pat_id_18899 218439 group of phenomes Acquired cardiac rythm disease Doença do ritmo cardíaco, adquirida Enfermedad adquirida del ritmo cardiaco Herzrhythmusstörung, erworbene Malattia acquisita del ritmo cardiaco Trouble du rythme cardiaque acquis hrdo:pat_id_1890 139750 neant Q87.8 1927 malformation syndrome Deformazioni delle mani e piedi - faccia piatta Deformação dos pés e mão - face plana Déformation des mains et pieds - face plate Hand and foot deformity - flat facies Hand- und Fußdeformitäten - flaches Gesichtsprofil Emery-Nelson syndrome Emery-Nelson-Syndrom Sindrome di Emery-Nelson Syndrome d'Emery-Nelson Síndrome de Emery-Nelson Síndrome de Emery-Nelson hrdo:pat_id_18903 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 278780 610651 neant Q82.1 Q87.1 220295 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 XP/CS XP/CS XP/CS XP/CS XP/CS Complejo xeroderma pigmentoso/síndrome de Cockayne Complexe Xeroderma pigmentosum/syndrome de Cockayne Complexo xeroderma pigmentoso/síndrome de Cockayne Xeroderma pigmentoso/sindrome di Cockayne complessa Xeroderma pigmentosum/Cockayne syndrome complex Xeroderma pigmentosum/Cockayne-Syndrom-Komplex hrdo:pat_id_18904 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 236100 neant Q04.2 220386 253138008 C0751617 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Holoprosencefalia semilobar Holoprosencefalia semilobar Holoprosencéphalie semi-lobaire Holoprosenzephalie, semilobare Oloprosencefalia semilobare Semilobar holoprosencephaly hrdo:pat_id_18905 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant M34.0 220393 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Diffuse cutaneous systemic scleroderma Esclerodermia sistémica cutánea difusa Esclerodermia sistémica cutánea progresiva Esclerosis sistémica cutánea progresiva Progressive cutaneous systemic scleroderma Progressive cutaneous systemic sclerosis Sclerodermia sistemica cutanea diffusa Sclerodermia sistemica cutanea progressiva Sclerosi sistemica cutanea progressiva Sclérdermie systémique cutanée progressive Sclérodermie systémique cutanée diffuse Sclérose systémique cutanée progressive Sklerose, diffuse kutane systemische Sklerose, kutane progressive systemische Systemische Sklerodermie, progressive Diffuse cutaneous systemic sclerosis Esclerose sistémica cutânea difusa Esclerosis sistémica cutánea difusa Sclerosi sistemica cutanea diffusa Sclérose systémique cutanée diffuse Systemische Sklerodermie, diffuse hrdo:pat_id_18906 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant L94.0 220402 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Esclerodermia sistémica cutánea limitada Limited cutaneous systemic scleroderma Sclerodermia sistemica cutanea limitata Sclérodermie systémique cutanée limitée Sklerose, kutane limitierte systemische Esclerose sistémica cutânea limitada Esclerosis sistémica cutánea limitada Limited cutaneous systemic sclerosis Sclerosi sistemica cutanea limitata Sclérose systémique cutanée limitée Systemische Sklerodermie, limitierte hrdo:pat_id_18907 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant M34.0 220407 299276009 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Esclerosis sistémica sin afectación de la piel Sclerosi sistemica senza sclerodermia Sclérodermie systémique sans sclérose cutanée Sclérose systémique sans sclérodermie Systemic sclerosis sine scleroderma Systemische Sklerose ohne Sklerodermie Esclerose sistémica limitada Esclerosis sistémica limitada Limited systemic sclerosis Sclerosi sistemica limitata Sclérose systémique limitée Systemische Sklerose, limitierte hrdo:pat_id_18908 601709 C536260 neant D69.1 220436 C1866423 disease Anomalie du FV plaquettaire Anomalie du facteur V plaquettaire Factor V Quebec Factor V Quebec Faktor V-Quebec Fattore V del Quebec Quebec Plättchen-Störung Thrombopathie du Québec Disfunção plaquetária do Quebec Enfermedad plaquetaria de Quebec Malattia delle piastrine del Quebec Quebec platelet disorder Quebec-Platelet-Syndrom Syndrome plaquettaire du Québec hrdo:pat_id_18909 614009 neant D69.8 220443 disease Thomboxan-Synthetase-Mangel Bleeding diathesis due to thromboxane synthesis deficiency Diatesi emorragica da deficit di sintesi del trombossano Diátese hemorrágica por deficiência na síntese de tromboxano Diátesis hemorrágica debido a déficit de síntesis de tromboxano Hämorrhagische Diathese durch Thomboxan-Synthetase-Mangel Troubles hémorragiques par déficit de synthèse de la thromboxane hrdo:pat_id_1891 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 135950 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=short+stature+intrauterine+growth+retardation+recurrent+locking+fingers Q87.1 1937 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Baixa estatura - dedos em gatilho Enanismo - dedos bloqueados Kleinwuchs - Fingerklemme Nanisme - doigts bloqués Nanismo - dita bloccate Short stature - locking fingers Eng-Strom syndrome Eng-Strom-Syndrom Sindrome di Eng-Strom Syndrome d'Eng-Strom Síndrome de Eng-Strom Síndrome de Eng-Strom hrdo:pat_id_18910 neant D69.4 220448 disease Macrothrombocytopenia with mitral valve insufficiency Macrothrombocytopenie avec insuffisance mitrale Macrotrombocitopenia associata a insufficienza della valvola mitrale Macrotrombocitopenia com insuficiência da válvula mitral Macrotrombocitopenia con insuficiencia mitral Makrothrombozytopenie mit Mitralklappeninsuffizienz hrdo:pat_id_18911 neant D69.1 220452 group of phenomes Inherited macrothrombocytopenia Macrotrombocitopenia ereditaria Macrotrombocitopenia hereditaria Makrothrombozytopenie, hereditäre Disturbo ereditario delle piastrine giganti Doença hereditária das plaquetas gigantes Giant-Platelet-Syndrom, hereditäres Inherited giant platelet disorder Macrothrombocytopénie héréditaire Trastorno heredado de las plaquetas gigantes hrdo:pat_id_18912 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta C538265 neant D12.6 220460 C2674616 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease AFAP AFAP AFAP Attenuated FAP Attenuated familial polyposis coli FAP atenuada FAP attenuata FAP, attenuierte PAF atenuada PAF attenuée PAFA PAFA Poliposi rettocolica familiare attenuata Poliposis cólica familiar atenuada Polypose rectocolique familiale atténuée Polyposis coli, attenuierte familiäre Attenuated familial adenomatous polyposis Polipose adenomatosa familiar, forma atenuada Poliposi adenomatosa familiare attenuata Poliposis adenomatosa familiar atenuada Polypose adénomateuse familiale atténuée Polyposis , adenomatöse attenuierte familiäre hrdo:pat_id_18913 245590 neant D82.8 E34.3 220465 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Estatura baja debido a déficit de STAT5b Kleinwuchs durch STAT5b-Mangel Laron-like syndrome Laron-ähnliches Syndrom Petite taille due au déficit en Stat5b Short stature due to STAT5b deficiency Sindrome Laron-simile Statura bassa da deficit di STAT5b Syndrome Laron-like Síndrome de Laron-like Laron syndrome with immunodeficiency Laron-Syndrom mit Immundefekt Sindrome di Laron associata immunodeficienza Syndrome de Laron avec déficit immunitaire Síndrome de Laron com imunodeficiência Síndrome de Laron con inmunodeficiencia hrdo:pat_id_18915 Variabel Variabile Variable Variable Variable Variable Variável neant E83.1 220489 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Eisenüberladung Enfermedad de sobrecarga de hierro Iron overload disease Maladie de surcharge en fer Malattia da sovraccarico di ferro Emocromatosi ereditaria rara Hemocromatose rara Hemocromatosis hereditaria rara Hämochromatose, hereditäre seltene Hémochromatose héréditaire rare Rare hereditary hemochromatosis hrdo:pat_id_18916 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 608629 614424 614464 614970 neant H35.5 Q04.3 220493 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown JS-O JS-O JS-O JS-O JS-O Joubert syndrome with retinopathy Joubert-Syndrom mit Retinopathie Sindrome di Joubert associata a retinopatia Syndrome de Joubert avec rétinopathie Síndrome de Joubert con retinopatía Joubert syndrome with ocular defect Joubert-Syndrom mit Augendefekt Sindrome di Joubert associata a difetto oculare Syndrome de Joubert avec anomalie oculaire Síndrome de Joubert com retinopatia Síndrome de Joubert con defecto ocular hrdo:pat_id_18917 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 609583 611560 614424 neant Q04.3 Q61.5 220497 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown JS-R JS-R JS-R JS-R JS-R Joubert-Syndrom Typ 4 Joubert-syndrom Typ 7 Joubert syndrome with renal defect Joubert-Syndrom mit Nierenstörung Sindrome di Joubert associata a difetto renale Syndrome de Joubert avec atteinte rénale Síndrome de Joubert com doença renal Síndrome de Joubert con enfermedad renal hrdo:pat_id_18929 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 268400 neant Q82.8 221008 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Poichilodermia di Rothmund-Thomson, tipo 1 Poikiloderma of Rothmund-Thomson type 1 Poikilodermie Rothmund-Thomson Typ 1 Poiquilodermia de Rothmund-Thomson tipo 1 RTS1 RTS1 RTS1 SRT1 Rothmund-Thomson syndrome type 1 Rothmund-Thomson-Syndrom Typ 1 Sindrome di Rothmund-Thomson, tipo 1 Syndrome de Rothmund-Thomson type 1 Síndrome de Rothmund-Thomson tipo 1 Síndrome de Rothmund-Thomson tipo 1 hrdo:pat_id_1893 neant Q87.8 1940 malformation syndrome Deformação dos ombros e tórax - cardiopatia congénita Malformación de hombro y tórax cardiopatía congénita Malformation de l'épaule et du thorax - cardiopathie congénitale Malformazioni delle spalle e del torace - cardiopatia congenita Schulter- und Thoraxmißbildung - kongenitale Kardiopathie Shoulder and thorax deformity - congenital heart disease hrdo:pat_id_18930 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 268400 neant Q82.8 221016 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Poichilodermia di Rothmund-Thomson, tipo 2 Poikiloderma of Rothmund-Thomson type 2 Poikilodermie Rothmund-Thomson Typ 2 Poiquilodermia de Rothmund-Thomson tipo 2 Poïkilodermie de Rothmund-Thomson type 2 RTS2 RTS2 RTS2 SRT2 Rothmund-Thomson syndrome type 2 Rothmund-Thomson-Syndrom Typ 2 Sindrome di Rothmund-Thomson, tipo 2 Syndrome de Rothmund-Thomson type 2 Síndrome de Rothmund-Thomson tipo 2 Síndrome de Rothmund-Thomson tipo 2 hrdo:pat_id_18931 173700 neant Q82.8 221039 403774004 C1275083 disease Hereditary sclerosing poikiloderma Weary type Poichilodermia sclerosante ereditaria, tipo Weary Poikilodermie, hereditäre sklerosierende, Typ Weary Poiquilodermia esclerosante hereditaria tipo Weary Poiquilodermia esclerosante hereditária, tipo Weary Poïkilodermie sclérosante héréditaire de Weary hrdo:pat_id_18932 neant Q82.8 221043 disease Hereditary sclerosing poikiloderma with tendon and pulmonary involvement Poichilodermia sclerosante ereditaria con coinvolgimento polmonare e tendineo Poikilodermie, hereditäre sklerosierende, mit Sehnen- und Lungenbeteiligung Poiquilodermia esclerosante hereditaria con afectación pulmonar y tendinosa Poiquilodermia esclerosante hereditária com envolvimento dos tendões e pulmonar Poïkilodermie sclérosante héréditaire avec atteintes pulmonaire et tendineuse hrdo:pat_id_18933 604173 neant D82.8 221046 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Poichilodermia associata a neutropenia, tipo Clericuzio Poikiloderma with neutropenia, Clericuzio type Poikilodermie mit Neutropenie vom Typ Clericuzio Poiquilodermia con neutropenia, tipo Clericuzio Poïkilodermie avec neutropénie type Clericuzio Poichilodermia associata a neutropenia Poikiloderma with neutropenia Poikilodermie mit Neutropenie Poiquilodermia com neutropenia Poiquilodermia con neutropenia Poïkilodermie avec neutropénie hrdo:pat_id_18934 200995 neant Q87.0 221054 malformation syndrome Acrocefalopolidattilia displasica Acrocephalopolydactylous dysplasia Akrozephalopolydaktyle Dysplasie Elejalde syndrome Sindrome di Elejalde Syndrome d'Elejalde Síndrome de Elejalde Acro-céphalo-polydactylie Acrocefalopolidactilia Acrocefalopolidactilia Acrocefalopolidattilia Acrocephalopolydactyly Elejalde-Syndrom hrdo:pat_id_18935 116860 603284 603285 neant D18.0 221061 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Angioma cavernoso cerebrale ereditario Angioma cavernoso cerebrale familiare Angioma cavernoso familiar Angioma cavernoso hereditario Cavernoma cerebral familiar Cavernoma cerebral hereditario Cavernoma cerebrale familiare Cavernome cérébral familial Familial cerebral cavernoma Familial cerebral cavernous malformation Hereditary cerebral cavernoma Kavernom, familiäres, des Zentralnervensystems Kavernöses Angiom, hereditäres Kavernöses Hämangiom des Gehirns, familiäre Form Malformación cavernosa cerebral familiar Malformation caverneuse cérébrale familiale Malformation caverneuse cérébrale héréditaire Malformazione cavernosa cerebrale ereditaria Malformazione cavernosa cerebrale familiare Zerebrales Kavernom, familiäre Form Zerebrales Kavernom, hereditäres Cavernoma cerebrale ereditario Cavernome cérébral héréditaire Hereditary cerebral cavernous malformation Malformación cavernosa cerebral hereditaria Malformação cavernosa cerebral hereditária Zerebrale kavernöse Fehlbildung, hereditäre hrdo:pat_id_18936 D054319 10026828 neant G37.1 221074 386766007 C0238265 disease Doença de Marchiafava-Bignami Enfermedad de Marchiafava-Bignami Maladie de Marchiafava-Bignami Malattia di Marchiafava-Bignami Marchiafava-Bignami disease Marchiafava-Bignami-Krankheit hrdo:pat_id_18937 221078 disease Combined hyperactive dysfunction syndrome of the cranial nerves Sindrome da disfunzione iperattiva combinata dei nervi cranici Syndrom der kombinierten hyperaktiven Dysfunktion der kranialen Nerven Syndrome de dysfonctionnement hyperactif combiné des nerfs crâniens Síndrome de disfunción hiperactiva combinada de los nervios craneales Síndrome de disfunção combinada hiperativa dos nervos cranianos hrdo:pat_id_18938 141405 neant G51.3 221083 disease Emispasmo facciale Facial hemispasm Fazialer Hemispasmus Focal myoclonus of face Hemiespasmo facial Hémispasme facial Mioclono focale facciale Mioclonía focal de la cara Myoklonie, fokale, des Gesichts Myokymie hémifaciale Clonic hemifacial spasm Espasmo hemifacial clónico Espasmo hemifacial clónico Hemispasmus facialis, klonisch Spasme hémifacial clonique Spasmo emifacciale clonico hrdo:pat_id_18939 190400 D014277 10044652 neant G50.0 221091 31681005 C0040997 disease Névralgie du trijumeau Tic doloroso Tic doloroso Tic douloureux Tic douloureux Tic douloureux Neuralgia del trigémino Neuralgia do trigémio Nevralgia del trigemino Névralgie trigéminale Trigeminal neuralgia Trigeminusneuralgie hrdo:pat_id_18940 10018391 neant G52.1 221098 43763009 C0154731 disease Glossovasopharyngeal neuralgia Neuralgia vagoglosofaríngea Nevralgia glossovasofaringea Névralgie du glossopharyngien Névralgie glossopharyngée Névralgie vago-glossopharyngienne Glossopharyngeal neuralgia Glossopharyngeusneuralgie Neuralgia glosofaríngea Neuralgia glossofaríngea Nevralgia glossofaringea Névralgie glossopharyngienne hrdo:pat_id_18941 neant G51.4 221106 disease Isolated facial myokymia Miochimia facciale isolata Mioquimia facial aislada Mioquimia isolada da face Myokymie faciale isolée Myokymie, isolierte, des Gesichts hrdo:pat_id_18942 neant G50 G51 G52 G53 221109 23096007 C0010269 group of phenomes Facial neuralgia Neuralgia facial Neuralgie, faziale Nevralgia facciale Névralgie faciale Cranial neuralgia Neuralgia craneal Neuralgia craniana Neuralgie, kraniale Nevralgia cranica Névralgie cranienne hrdo:pat_id_18943 221114 group of phenomes Acquired peripheral movement disorder Anomalie du mouvement périphérique acquise Anomalía adquirida del movimiento periférico Bewegungsstörung, erworbene periphere Disturbo del movimento periferico acquisito Doença do movimento periférica, adquirida hrdo:pat_id_18944 D005862 10048608 221117 36785009 C0017494 disease Gerstmann syndrome Gerstmann-Syndrom Sindrome di Gerstmann Syndrome de Gerstmann Síndrome de Gerstmann Síndrome de Gerstmann hrdo:pat_id_18945 600325 neant Q82.0 221120 malformation syndrome ASSA ASSA ASSA Aminopterin syndrome-like sine aminopterin Aminopterin-ähnliches Syndrom sine Aminopterin Sindrome da aminopterina-like senza aminopterina Pseudoaminopterin syndrome Pseudoaminopterin-Syndrom Sindrome da pseudoaminopterina Syndrome pseudo-aminoptérine Síndrome de pseudoaminopterina Síndrome pseudoaminopterina hrdo:pat_id_18946 225790 neant 221126 malformation syndrome Cerebral proliferative glomeruloid vasculopathy Encephaloclastic proliferative vasculopathy Hidrocefalia/hidrancefalia debido a vasculopatía cerebral Hydrocephaly/hydranencephaly due to cerebral vasculopathy Hydrocéphalie/hydranencéphalie due à une vasculopathie cérébrale Hydrozephalie/Hydranenzephalie durch zerebrale Vaskulopathie Idrocefalo/idranencefalia da vasculopatia cerebrale Proliferative Vaskulopathie und Hydranenzephalie/Hydrozephalie Proliferative vasculopathy and hydranencephaly/hydrocephaly Vasculopathie gloméruloïde proliférative cérébrale Vasculopathie proliferative et hydranencéphalie/hydrocéphalie Vasculopatia encefaloclastica proliferativa Vasculopatia glomeruloide proliferativa cerebrale Vasculopatia proliferativa e idranencefalia/idrocefalo Vasculopatía cerebral glomeruloide proliferativa Vasculopatía encefaloclástica proliferativa Vasculopatía proliferativa e hidrocefalia/hidrancefalia Vaskulopathie, enzephaloklastische proliferative Zerebrale Vaskulopathie, glomeruloide proliferative Fowler syndrome Fowler-Syndrom Sindrome di Fowler Syndrome de Fowler Síndrome de Fowler Síndrome de Fowler hrdo:pat_id_18947 613328 neant D82.8 221139 disease Anomalías óculo-facio-esqueléticas con inmunodeficiencia combinada Combined immunodeficiency with facio-oculo-skeletal anomalies Immunodeficienza combinata con anomalie facio-oculo-scheletriche Immunodéficience combinée avec anomalies facio-oculo-squelettiques Imunodeficiência combinada com anomalias facio-oculo-esqueléticas Kombinerter Immundefekt mit fazio-okulo-skeletalen Anomalien hrdo:pat_id_18948 221142 clinical subtype Anetodermie, konfettiartige Atrofia macular confetti-like Atrofia macular tipo confetti-like Atrofia maculare Confetti-simile Atrophie maculaire type confetti-like Confetti-like macular atrophy hrdo:pat_id_18949 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613177 neant Q82.8 221145 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome di Urban-Rifkin-Davis Syndrome d'Urban-Rifkin-Davis Síndrome de Urban-Rifkin-Davis Urban-Rifkin-Davis syndrome Urban-Rifkin-Davis-Syndrom Cutis laxa - anomalie gravi polmonari, gastrointestinali e delle vie urinarie Cutis laxa avec anomalies pulmonaires, gastrointestinales er urinaires sévères Cutis laxa com anomalias graves pulmonares, gastrointestinais e urinárias Cutis laxa con anomalías urinarias, gastrointestinales y pulmonares graves Cutis laxa mit schweren Begleitanomalien (Lunge, Gastrointestinaltrakt, Harntrakt) Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies hrdo:pat_id_18950 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 610042 614325 neant 221150 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Pitt-Hopkins-like syndrome Pitt-Hopkins-ähnliches Syndrom Sindrome Pitt-Hopkins-simile Syndrome Pitt-Hopkins-like Síndrome Pitt-Hopkins-like Síndrome de Pitt-Hopkins-like hrdo:pat_id_1896 127800 C537997 neant Q74.8 1822 205480005 C0432282 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Doença de Trevor Enfermedad de Trevor Maladie de Trevor Malattia di Trevor Trevor disease Trevor, doença de Trevor-Krankheit Displasia epifisaria emimelica Displasia epifisaria hemimélica Displasia epifisária hemimélica Dysplasia epiphysealis hemimelica Dysplasia epiphysealis hemimelica Dysplasie épiphysaire hémimélique hrdo:pat_id_18965 222628 group of phenomes Hereditary poikiloderma Poichilodermia ereditaria Poikilodermie, hereditäre Poiquilodermia hereditaria Poiquilodermia hereditária Poïkilodermie héréditaire hrdo:pat_id_1897 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 226960 C537038 10062600 neant Q87.5 1824 C0796021 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia epifisaria - microcefalia - nistagmo Dysplasie épiphysaire - microcéphalie - nystagmus Dysplasie, epiphysäre - Mikrozephalie - Nystagmus Epiphyseal dysplasia - microcephaly - nystagmus Lowry-Wood, síndrome de Sindrome di Lowry-Wood Síndrome de Lowry-Wood Displasia epifisaria - microcefalia - nistagmo Displasia epifisária - microcefalia - nistagmo Lowry-Wood syndrome Lowry-Wood-Syndrom Syndrome de Lowry-Wood Síndrome de Lowry-Wood hrdo:pat_id_18973 223713 group of phenomes Enfermedad OXPHOS Maladie OXPHOS Malattia OXPHOS OXPHOS disease OXPHOS-Krankheit Anomalie de la phosphorylation oxydative mitochondriale Anomalía de la fosforilación oxidativa mitocondrial Disturbo della fosforilazione ossidativa mitocondriale Doença da fosforilação oxidativa mitocondrial Mitochondrial oxidative phosphorylation disorder Mitochondriale Störungen der oxidativen Phosphorylierung hrdo:pat_id_18974 10006007 223727 C1704327 group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Bone sarcoma Knochensarkom Sarcoma osseo Sarcoma óseo Sarcoma ósseo Sarcome osseux hrdo:pat_id_18975 D008223 10025310 223735 118600007 21964009 C0024299 group of phenomes Linfoma Linfoma Linfoma Lymphom Lymphoma Lymphome hrdo:pat_id_18976 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 604250 C537248 neant E83.1 225123 C1858664 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Emocromatosi legata a TFR2 Hemocromatosis ligada a TFR2 Hämochromatose, TFR2-Gen-assoziierte Hémochromatose liée à TFR2 TFR2-related hemochromatosis Emocromatosi, tipo 3 Hemochromatosis type 3 Hemocromatose tipo 3 Hemocromatosis tipo 3 Hämochromatose Typ 3 Hémochromatose type 3 hrdo:pat_id_18977 Variabel Variabile Variable Variable Variable Variable Variável neant G23.2 225147 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Dégénérescence striatonigrique de l'enfant, forme sporadique IBSN sporadica Necrosi striatonigra infantile sporadica Necrosis estriatonigral infantil esporádica Nécrose striatonigrique de l'enfant, forme sporadique Sporadic IBSN Sporadic infantile striatonigral necrosis Sporadische IBSN Striatonigrale Nekrose, infantile sporadische Necrose do estriado bilateral infantil, esporádica Necrosi striatale bilaterale infantile sporadica Necrosis estriatal bilateral infantil esporádica Nécrose striatale bilatérale de l'enfant, forme sporadique Sporadic infantile bilateral striatal necrosis Striatonigrale Nekrose, bilaterale infantile, sporadische Form hrdo:pat_id_18978 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 271930 500003 neant G23.2 225154 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Herencia mitocondrial Hérédité mitochondriale Mitochondrial inheritance Mitochondrial inheritance Mitochondriale Vererbung Modo de hereditariedade mitocondrial Trasmissione mitocondriale clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dégénérescence striatonigrique de l'enfant, forme familiale Familial IBSN Familial infantile striatonigral necrosis Familiäre IBSN IBSN familiare Necrosi striatonigra infantile familiare Necrosis estriatonigral infantil familiar Nécrose striatonigrique de l'enfant, forme familiale Familial infantile bilateral striatal necrosis Necrose do estriado bilateral infantil, familiar Necrosi striatale bilaterale infantile familiare Necrosis estriatal bilateral infantil familiar Nécrose striatale bilatérale de l'enfant, forme familiale Striatonigrale Nekrose, infantile familiäre hrdo:pat_id_1899 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 167220 C538095 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Pacman+dysplasia+OR+%28epiphyseal+stippling+osteoclastic+hyperplasia%29 Q77.8 1952 C1833676 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Epiphyseal stippling syndrome - osteoclastic hyperplasia Epiphysäre Tüpfelung - osteoklastische Hyperplasie Pacman, síndrome de Sindrome delle epifisi punteggiate - iperplasia osteoclastica Syndrome épiphyses ponctuées - hyperplasie ostéoclastique Síndrome de Pacman Displasia de Pacman Displasia di Pacman Dysplasie de Pacman Epífises pontuadasSíndrome - hiperplasia osteoclástica Pacman dysplasia Pacman-Dysplasie hrdo:pat_id_19 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 232800 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=glycogen+storage+disease+type+vii%5Bmajr%5D E74.0 371 234406005 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficiência de fosfofrutocinase muscular Doença de Tarui Doença no armazenamento de glicogénio, tipo 7 Enfermedad de Tarui Enfermedad de almacenamiento de glucógeno tipo 7 Fosfofrutocinase muscular, deficiência de GSD da deficit di fosfofruttochinasi muscolare GSD due to muscle phosphofructokinase deficiency GSD par déficit en phosphofructokinase musculaire GSD por déficit de fosfofructoquinasa muscular GSD tipo 7 GSD type 7 GSD type 7 GSD, tipo 7 Glicogenosi da deficit di fosfofruttochinasi muscolare Glicogenosi, tipo 7 Glicogénio, doença no armazenamento de, tipo 7 Glucogenosis por déficit de fosfofructoquinasa muscular Glucogenosis tipo 7 Glycogen storage disease type 7 Glycogenosis due to muscle phosphofructokinase deficiency Glycogénose type 7 Glykogen-Speicherkrankheit Typ 7 Maladie de Tarui Malattia da deposito di glicogeno, tipo 7 Malattia di Tarui Phosphofructokinase, Mangel der muskulären Tarui disease Tarui, doença de Tarui-Krankheit Type 7 glycogenosis Enfermedad de almacenamiento de glucógeno por déficit de fosfofructoquinasa muscular Glicogenose tipo 7 Glycogen storage disease due to muscle phosphofructokinase deficiency Glycogènose par déficit en phosphofructokinase musculaire Glykogenose Typ 7 Malattia da deposito di glicogeno da deficit di fosfofruttochinasi muscolare hrdo:pat_id_190 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 310600 C537849 10069760 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Norrie+disease%5Btw%5D H35.5 649 C0266526 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Atrofia bulbare ereditaria Atrofia bulborum hereditaria Atrophia bulborum hereditaria Atrophia bulborum hereditaria Blindheit, episkopische Cecità di Episkopi Ceguera de Episkopi Cécité d'Episkopi Enfermedad de Norrie-Warburg Episkopi blindness Maladie de Norrie-Warburg Malattia di Norrie-Warburg Norrie-Warburg disease Norrie-Warburg-Krankheit Pseudoglioma Doença de Norrie (ND) Enfermedad de Norrie Maladie de Norrie Malattia di Norrie Norrie disease Norrie-Syndrom hrdo:pat_id_1901 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 227090 C535513 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22dermatitis%2C+exfoliative/congenital%22%5BMesh+Terms%5D+AND+lethal%5BAll+Fields%5D L26 1954 C1856898 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Congenital lethal erythroderma Eritrodermia congenita letale Eritrodermia congénita letal Eritrodermia letal congénita Erythrodermie congénitale létale Erythrodermie, kongenitale letale hrdo:pat_id_19010 225681 group of phenomes Doença lisossomal com epilepsia Enfermedad lisosomal con epilepsia Lysosomal disease with epilepsy Lysosomale Störung mit Epilepsie Maladie lysosomale avec épilepsie Malattia lisosomiale associata a epilessia hrdo:pat_id_19011 225686 group of phenomes Doença peroxissomal com epilepsia Enfermedad peroxisomal con epilepsia Maladie péroxysmale avec épilepsie Malattia perossisomiale associata a epilessia Peroxisomal disease with epilepsy Peroxisomale Krankheit mit Epilepsie hrdo:pat_id_19012 225689 group of phenomes Amino acid or protein metabolism disease with epilepsy Aminosäure/Protein-Stoffwechselstörung mit Epilepsie Anomalie du métabolisme des acides aminés ou des protéines avec épilepsie Anomalía del metabolismo de los aminoácidos o de las proteínas con epilepsia Doença do metabolismo dos aminoácidos ou de proteínas com epilepsia Malattia del metabolismo delle proteine o degli aminoacidi associata a epilessia hrdo:pat_id_19013 225692 group of phenomes Anomalie du transport ou de l'utilisation des métaux avec épilepsie Anomalía en el transporte o utilización de metales con epilepsia Disturbo del trasporto o dell'utilizzo dei metalli associato a epilessia Doença do transporte ou da utilização de metais, com epilepsia Metal transport or utilisation disorder with epilepsy Störungen im Stoffwechsel von Metallen mit Epilepsie hrdo:pat_id_19014 225696 group of phenomes Anomalie du métabolisme energétique avec épilepsie Anomalía del metabolismo energético con epilepsia Disturbo del metabolsimo energetico associato a epilessia Doença do metabolismo energético com epilepsia Energiestoffwechselstörung mit Epilepsie Energy metabolism disorder with epilepsy hrdo:pat_id_19015 225700 group of phenomes Doença mitocondrial com epilepsia Enfermedad mitocondrial con epilepsia Maladie mitochondriale avec épilepsie Malattia mitocondriale associata a epilessia Mitochondrial disease with epilepsy Mitochondriale Krankheit mit Epilepsie hrdo:pat_id_19016 225703 group of phenomes Doença mitocondrial com neuropatia periférica Enfermedad mitocondrial con neuropatía periférica Maladie mitochondriale avec neuropathie périphérique Malattia mitocondriale associata a neuropatia periferica Mitochondrial disease with peripheral neuropathy Mitochondriale Krankheit mit peripherer Neuropathie hrdo:pat_id_19017 225707 group of phenomes Anomalia da neurotransmissão metabólica com epilepsia Anomalie metabolica della neurotrasmissione associata a epilessia Enfermedad metabólica por anomalía de la neurotransmisión con epilepsia Maladie métabolique par anomalie de la neurotransmission avec épilepsie Metabolic neurotransmission anomaly with epilepsy Metabolische Neurotransmitter-Anomalie mit Epilepsie hrdo:pat_id_19018 225710 group of phenomes Anomalie du métabolisme des stérols avec épilepsie Anomalía del metabolismo de los esteroles con epilepsia Disturbo del metabolismo degli steroli associata a epilessia Doença do metabolismo dos esteróis com epilepsia Sterol metabolism disorder with epilepsy Sterol-Stoffwechselstörung mit Epilepsie hrdo:pat_id_19019 225713 group of phenomes Altra malattia metabolica associata a epilessia Andere Stoffwechselstörung mit Epilepsie Autre maladie métabolique avec épilepsie Other metabolic disease with epilepsy Otras enfermedades metabólicas con epilepsia Outra doença metabólica com epilepsia hrdo:pat_id_1902 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 133190 C535514 C535738 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Erythrokeratodermia+ataxia 1955 C1851481 C2930921 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Eritrocheratodermia - atassia Eritroqueratodermia - ataxia Eritroqueratodermia ataxia Erythrokeratodermia - ataxia Erythrokeratodermie - Ataxie Erythrokératodermie - ataxie hrdo:pat_id_19020 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 225968 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Familial essential thrombocythemia Thrombocytémie essentielle familiale Thrombozythämie, essenzielle, familiäre Form Trombocitemia essenziale familiare Trombocitopenia esencial familiar Inherited predisposition to essential thrombocythemia Predisposición hereditaria a la trombocitopenia esencial Predisposizione ereditaria alla trombocitemia essenziale Predisposição hereditária a trombocitopenia essencial Prédisposition héréditaire à la thrombocytémie essentielle Thrombozythämie, essenzielle, bei vererbter Prädisposition hrdo:pat_id_19029 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 226292 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hipotiroidismo congénito permanente Hipotiroidismo congénito permanente Hypothyreose, kongenitale permanente Hypothyroïdie congénitale permanente Ipotiroidismo congenito permanente Permanent congenital hypothyroidism hrdo:pat_id_1903 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter D004916 10015284 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=familial+erythromelalgia I73.8 1956 37151006 C0014804 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Eritromelalgia Eritromelalgia Eritromelalgia Erythromelalgia Erythromelalgie Erythromélalgie hrdo:pat_id_19030 226295 group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 HC Hipotiroidismo primario congénito Hipotiroidismo primário Hypothyreose, kongenitale primäre Hypothyroïdie congénitale primitive Ipotiroidismo primitivo congenito Primary congenital hypothyroidism hrdo:pat_id_19031 226298 group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hypothyroïdie secondaire Ipotiroidismo secondario Secondary hypothyroidism Central congenital hypothyroidism Hipotiroidismo central Hipotiroidismo congénito central Hypothyreose, kongenitale zentrale Hypothyroïdie congénitale centrale Ipotiroidismo centrale congenito hrdo:pat_id_19033 226307 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hipotiroidismo debido a factores de transcripción deficientes implicados en el desarrollo o función de la hipófisis Hipotiroidismo por deficiência nos fatores de transcrição envolvidos no desenvolvimento ou função da adenohipófise Hypothyreose durch Mangel von Transkriptionsfaktoren zur Entwicklung oder Funktion der Schilddrüse Hypothyroidism due to deficient transcription factors involved in pituitary development or function Hypothyroïdie par déficit en facteurs de transcription impliqués dans le développement ou la fonction hypophysaire Ipotiroidismo da deficit dei fattori di trascrizione implicati nello sviluppo o nella funzione ipofisaria hrdo:pat_id_19034 226310 group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hipotiroidismo periférico Hipotiroidismo periférico Hypothyreose, periphere Hypothyroïdie périphérique Ipotiroidismo periferico Peripheral hypothyroidism hrdo:pat_id_19035 226313 disease Congenital hypothyroidism due to maternal intake of antithyroid drugs Hipotiroidismo congénito debido a ingesta materna de medicamentos antitiroideos Hipotiroidismo congénito por ingestão materna de drogas antitiroideias Hypothyreose, kongenitale, durch mütterliche Einnahme von Thyreostatica Hypothyroïdie congénitale due à une exposition maternelle aux médicaments antithyroïdiens Ipotiroidismo congenito da assunzione materna di farmaci antitiroidei hrdo:pat_id_19036 226316 disease Genetic transient congenital hypothyroidism Hipotiroidismo congénito debido a mutaciones heterocigotas de THOX2 Hipotiroidismo congénito por mutações em heterozigotia no gene THOX2 Hypothyreose, kongenitale, durch heterozygote THOX2-Genmutationen Hypothyroïdie congénitale transitoire génétique Ipotiroidismo congenito da mutazioni eterozigoti di THOX2 hrdo:pat_id_19053 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 258300 neant G90.3 227510 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype AMS, tipo cerebeloso AMS, type cérébelleux AMS-c AMS-c AOPC AOPC sporadique type 1 Atrofia olivopontocerebellare Atrofia olivopontocerebelosa Atrophie olivopontocérébelleuse sporadique type 1 MSA, cerebellar type MSA, tipo cerebellare MSA, zerebelläre MSA-C MSA-c MSA-c OPCA OPCA Olivopontozerebelläre Atrophie Sporadic OPCA type 1 Sporadic olivopontocerebellar atrophy type 1 Atrofia multisistemica, tipo cerebellare Atrofia multisistémica de tipo cerebeloso Atrofia multissistémica, tipo cerebelar Atrophie multisystématisée, type cérébelleux Multiple system atrophy, cerebellar type Multisystematrophie, zerebellärer Typ hrdo:pat_id_19054 neant C50 227535 disease Brustkrebs, familiärer Cancer du sein familial Cancro familiare della mammella Carcinoma de mama familiar Carcinoma de mama hereditario Carcinoma ereditario della mammella Carcinoma familiare della mammella Carcinome du sein familial Carcinome du sein héréditaire Cáncer de mama familiar Familial breast cancer Familial breast carcinoma Hereditary breast carcinoma Mammakarzinom, familiäres Mammakarzinom, hereditäres Brustkrebs, hereditärer Cancer du sein héréditaire Cancro da mama hereditário Cancro ereditario della mammella Cáncer de mama hereditario Hereditary breast cancer hrdo:pat_id_19055 228980 neant H35.5 227786 group of phenomes Hereditary flecked retinopathy Retinite pigmentosa ereditaria Retinopathie, gefleckte, hereditäre Retinopatía moteada hereditaria Rétinopathie en tache héréditaire Familial flecked retinopathy Retinite pigmentosa familiare Retinopathie, gefleckte, familiäre Form Retinopatia em listras familiar Retinopatía moteada familiar Rétinopathie en tache familiale hrdo:pat_id_19056 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 136880 neant H35.5 227796 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Fondo albipuntato Fundus albipunctatus Fundus albipunctatus Fundus albipunctatus Fundus albipunctatus Fundus albipunctatus hrdo:pat_id_19057 Variabel Variabile Variable Variable Variable Variable Variável 10051222 227972 239910001 C0409998 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Syndrome de l'huile frelatée Sindrome dell'olio tossico Syndrome de l'huile toxique Síndrome del aceite tóxico Síndrome do óleo tóxico Toxic oil syndrome Toxic-oil-Syndrom hrdo:pat_id_19058 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 612989 neant H47.2 227976 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 OPA7 Atrofia ottica, autosomica recessiva, tipo OPA7 Atrofia óptica autosómica recesiva, tipo OPA7 Atrofia ótica autossómica recessiva, tipo OPA7 Atrophie optique autosomique récessive type OPA7 Autosomal recessive optic atrophy, OPA7 type Optikusatrophie, autosomal-rezessive, Typ 7 hrdo:pat_id_19059 Variabel Variabile Variable Variable Variable Variable Variável 227982 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease APS tipo 3 APS type 3 APS type 3 APS, tipo 3 APS-3 APS3 APS3 APS3 APS3 Autoimmun-polyglanduläres Syndrom Typ 3 Autoimmune polyendocrine syndrome type 3 Autoimmune polyglandular syndrome type 3 SAP tipo 3 Sindrome poliendocrina autoimmune, tipo 3 Sindrome polighiandolare autoimmune, tipo 3 Syndrome polyglandulaire autoimmun type 3 Autoimmun-Polyendokrinopathie Typ 3 Autoimmune polyendocrinopathy type 3 Poliendocrinopatia autoimmune, tipo 3 Poliendocrinopatia autoimune tipo 3 Poliendocrinopatía autoinmune tipo 3 Polyendocrinopathie auto-immune type 3 hrdo:pat_id_19060 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 227990 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease APS tipo 4 APS type 4 APS type 4 APS, tipo 4 APS-4 APS4 APS4 APS4 APS4 Autoimmun-polyglanduläres Syndrom Typ 4 Autoimmune polyendocrine syndrome type 4 Autoimmune polyglandular syndrome type 4 Sindrome poliendocrina autoimmune, tipo 4 Sindrome polighiandolare autoimmune, tipo 4 Syndrome polyglandulaire autoimmun type 4 Autoimmun-Polyendokrinopathie Typ 4 Autoimmune polyendocrinopathy type 4 Poliendocrinopatia autoimmune, tipo 4 Poliendocrinopatia autoimune tipo 4 Poliendocrinopatía autoinmune tipo 4 Polyendocrinopathie auto-immune type 4 hrdo:pat_id_19061 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 228000 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CD4-Lymphozytopenie, idiopathische Idiopathic CD4 lymphocytopenia Linfocitopenia CD4 idiopatica Linfocitopenia CD4 idiopática Linfocitopenia CD4 idiopática Lymphocytopénie CD4 idiopathique hrdo:pat_id_19062 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant D81.2 228003 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo etiological subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Déficit immunitaire combiné sévère dû au déficit en coronine -1A Immundefekt, kombinierter schwerer, durch Coronin 1A Defekt Immunodeficienza combinata grave da deficit di coronina-1A Inmunodeficiencia combinada grave por déficit de coronina-1A SCID da deficit di CORO1A SCID da deficiti di coronina-1A SCID due to CORO1A deficiency SCID due to coronin-1A deficiency SCID durch CORO1A-Defekt SCID durch CORO1A-Mangel SCID dû au déficit en CORO1A SCID dû au déficit en coronine-1A SCID por déficit de CORO-1A SCID por déficit de coronina-1A Severe combined immunodeficiency due to coronin-1A deficiency Déficit immunitaire combiné sévère dû au déficit en CORO1A Immundefekt, kombinierter schwerer, durch CORO1A-Mangel Immunodeficienza combinata grave da deficit di CORO1A Imunodeficiência combinada grave por deficiência de CORO1A Inmunodeficiencia combinada grave por déficit de CORO1A Severe combined immunodeficiency due to CORO1A deficiency hrdo:pat_id_19064 Variabel Variabile Variable Variable Variable Variable Variável 606346 neant 228012 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Perdita dell'udito neurosensoriale progressiva - cardiomiopatia ipertrofica Perdita dell'udito sensorineurale progressiva - cardiomiopatia ipertrofica Progressive neurosensorische Taubheit - hypertrophe Kardiomyopathie Progressive neurosensory deafness - hypertrophic cardiomyopathy Progressive neurosensory hearing loss - hypertrophic cardiomyopathy Progressive sensorineural deafness - hypertrophic cardiomyopathy Sordera neurosensorial progresiva - cardiomiopatía hipertrófica Sordità sensorineurale progressiva - cardiomiopatia ipertrofica Surdité de perception progressive - cardiomyopathie hypertrophique Progressive sensorineural hearing loss - hypertrophic cardiomyopathy Progressiver sensorineuraler Hörverlust - hypertrophe Kardiomyopathie Pérdida auditiva neurosensorial progresiva - cardiomiopatía hipertrófica Sordità neurosensoriale progressiva - cardiomiopatia ipertrofica Surdez neurosensorial progressiva - miocardiopatia hipertrófica Surdité neurosensorielle progressive - cardiomyopathie hypertrophique hrdo:pat_id_19068 10002156 neant K60.3 228113 C0205929 disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Anal fistula Analfistel Fistola anale Fistule anale Fístula anal Fístula anal hrdo:pat_id_19069 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant M35.2 228116 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hughes-Stovin syndrome Hughes-Stovin-Syndrom Sindrome di Hughes-Stovin Syndrome de Hughes-Stovin Síndrome de Hughes-Stovin Síndrome de Hughes-Stovin hrdo:pat_id_1907 133690 neant Q87.5 1962 malformation syndrome Esostosi - anectodermia - brachidattilia tipo E Exostose - anetodermia - braquidactilia tipo E Exostosen - Anetodermie - Brachydaktylie Typ E Exostoses - anetodermia - brachydactyly type E Exostoses - anétodermie - brachydactylie type E Exostosis anetodermia braquidactilia tipo e hrdo:pat_id_19070 Variabel Variabile Variable Variable Variable Variable Variável neant B48.7 228119 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Fusarium infection Fusarium-Infektion Infección por Fusarium Infezione da Fusarium Fusariose Fusariose Fusariose Fusariosi Fusariosis Fusariosis hrdo:pat_id_19071 Variabel Variabile Variable Variable Variable Variable Variável D003047 10009825 neant B38 228123 442543009 60826002 C0009186 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown California disease Coccidioides infection Coccidioides-Infektion Desert fever Desert rheumatism Enfermedad de California Febbre del deserto Febbre della valle Febbre della valle di San Joaquin Fiebre del Valle Fiebre del desierto Fiebre del valle de San Joaquín Fièvre de la vallée Fièvre de la vallée de Californie Fièvre de la vallée de San Joaquin Fièvre du désert Infección por Coccidioides Infezione da Coccidioides Maladie de Californie Malattia della California Reumatismo del deserto Reumatismo del desierto Rhumatisme du désert San Joaquin valley fever Talfieber Valley fever Valley-Fieber Wüstenfieber Wüstenrheumatismus Coccidioidomicose Coccidioidomicosi Coccidioidomicosis Coccidioidomycose Coccidioidomycosis Kokzidioidomykose hrdo:pat_id_19072 Variabel Variabile Variable Variable Variable Variable Variável 603829 612956 neant I49.0 228140 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Familial paroxysmal ventricular fibrillation, not Brugada type Fibrilación ventricular paroxística familiar, tipo no Brugada Fibrillation ventriculaire paroxysmale familiale type non Brugada Fibrillazione ventricolare parossistica familiare, non del tipo Brugada Kammerflimmern, familiäres paroxysmales (nicht Brugada-Typ) Fibrilación ventricular idiopática, tipo no Brugada Fibrilação ventricular idiopática, tipo não-Brugada Fibrillation ventriculaire idiopathique type non Brugada Fibrillazione ventricolare idiopatica, non del tipo Brugada Idiopathic ventricular fibrillation, not Brugada type Kammerflimmern, idiopathisches (nicht Brugada-Typ) hrdo:pat_id_19073 228145 group of phenomes Variant de la SEP Multiple Sklerose variante Multiple sclerosis variant Variant de la sclérose en plaques Variante de esclerose múltipla Variante de la esclerosis múltiple Variante della sclerosi multipla hrdo:pat_id_19074 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 228157 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Acute multiple sclerosis, Marburg type Acute multiple sclerosis, Marburg variant Esclerosis múltiple aguda, tipo Marburg Esclerosis múltiple aguda, variante Marburg Marburg-Variante der akuten multiplen Sklerose Multiple Sklerose, akute, Marburg-Variante SEP aiguë de Marburg Sclerosi multipla acuta, tipo Marburg Sclerosi multipla acuta, variante Marburg Sclérose de Marburg Akute multiple Sklerose Marburg Esclerose múltipla aguda de Marburg Esclerosis múltiple aguda de Marburg Marburg acute multiple sclerosis Sclerosi multipla acuta di Marburg Sclérose en plaques aiguë de Marburg hrdo:pat_id_19075 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant G37.5 228165 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Baló-Krankheit Concentric demyelination Demielinizzazione concentrica Demyelinisierung, konzentrische Desmielinización concéntrica Démyélination concentrique Balo's konzentrische Sklerose Balò concentric sclerosis Esclerose concêntrica de Balò Esclerosis concéntrica de Baló Sclerosi concentrica di Balò Sclérose concentrique de Balò hrdo:pat_id_19076 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 609161 neant 228169 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ADSD ADSD ADSD ADSD ADSD Autosomal dominant striatal neurodegeneration Neurodegeneración estriatal autosómica dominante Neurodegeneration, striatale, autosomal-dominante Neurodegenerazione striatale, autosomica dominante Neurodegeneração do estriado, autossómica dominante Neurodégénérescence striatale autosomique dominante hrdo:pat_id_19077 Variabel Variabile Variable Variable Variable Variable Variável 613287 neant G60.0 228174 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CMT2N CMT2N CMT2N CMT2N CMT2N Autosomal dominant Charcot-Marie-Tooth disease type 2N Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2N Doença de Charcot-Marie-Tooth tipo 2N, autossómica dominante Enfermedad de Charcot-Marie-Tooth tipo 2N Maladie de Charcot-Marie-Tooth autosomique dominante type 2N Malattia di Charcot-Marie-Tooth, autosomica dominante, tipo 2N hrdo:pat_id_19078 Variabel Variabile Variable Variable Variable Variable Variável 606482 neant G60.0 228179 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CMT2M CMT2M CMT2M CMT2M CMT2M Autosomal dominant Charcot-Marie-Tooth disease type 2M Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2M Doença de Charcot-Marie-Tooth tipo 2M, autossómica dominante Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2M Maladie de Charcot-Marie-Tooth autosomique dominante type 2M Malattia di Charcot-Marie-Tooth, autosomica dominante, tipo 2M hrdo:pat_id_19079 neant Q87.2 228184 group of phenomes Atriodigital dysplasia Displasia atriodigital Displasia atriodigitale Dysplasie atrio-digitale Dysplasie, atriodigitale Syndrome coeur-main Syndrome coeur-membres Heart-hand syndrome Herz-Hand-Syndrom Sindrome cuore-mano Syndrome cardiomélique Síndrome corazón-mano Síndrome coração-mão hrdo:pat_id_1908 133750 1964 malformation syndrome Char-Douglas-Dungan syndrome Char-Douglas-Dungan, síndrome de Char-Douglas-Dungan-Syndrom Sindrome di Char-Douglas-Dungan Syndrome de Char-Douglas-Dungan Síndrome de Char-Douglas-Dungan Síndrome de Char-Douglas-Dungan Extra-sístoles - baixa estatura - hiperpigmentação - microcefalia Extrasistole - bassa statura - iperpigmentazione - microcefalia Extrasystolen - Kleinwuchs - Hyperpigmentierung - Mikrozephalie Extrasystoles - petite taille - hyperpigmentation - microcéphalie Extrasystoles - short stature - hyperpigmentation - microcephaly Extrasístoles - talla baja - hiperpigmentación - microcefalia hrdo:pat_id_19081 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 604381 neant Q87.2 228190 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Conducto arterioso persistente - válvula aórtica bicúspide - anomalías de las manos Offener Ductus arteriosus - bikuspide Aortenklappe - Handfehlbildungen Patent arterial duct - bicuspid aortic valve - hand anomalies Pervietà del dotto arterioso - valvola aortica bicuspide - anomalie della mano Dotto arterioso pervio - valvola aortica bicuspide - anomalie della mano Ductus arterioso persistente - válvula aórtica bicúspide - anomalías de las manos Patent ductus arteriosus - bicuspid aortic valve - hand anomalies Patente de ducto arterioso - válvula aórtica bicúspide - anomalias das mãos Persistance du canal artériel - valve aortic bicuspide - anomalie des mains Persistierender Ducuts arteriosus - bikuspide Aortenklappe - Handanomalien hrdo:pat_id_19082 228215 group of phenomes Anomalia genetica del tessuto elastico del derma Anomalie génétique de l'élasticité du derme Doença do tecido elástico da derme, genética Genetic dermis elastic tissue disorder Genetischer Defekt des elastischen Hautgewebes Trastorno genético del tejido elástico de la dermis hrdo:pat_id_19083 neant 228218 group of phenomes Acquired dermis elastic tissue disorder Anomalia acquisita del tessuto elastico del derma Anomalie acquise de l'élasticité du derme Doença do tecido elástico da derme, adquirida Erworbener Defekt des elastischen Hautgewebes Trastorno adquirido del tejido elástico de la dermis (de la elasticidad de la dermis) hrdo:pat_id_19084 neant 228221 group of phenomes Acquired dermis elastic tissue disorder with decreased elastic tissue Anomalia acquisita dell'elasticità del derma con perdita di tessuto elastico Anomalie acquise de l'élasticité du derme avec perte de tissus élastique Doença do tecido elástico da derme com diminuição do tecido elástico, adquirida Erworbener Defekt des elastischen Hautgewebes mit verminderter Anzahl der elastischen Fasern Trastorno adquirido del tejido elástico de la dermis con disminución de tejido elástico hrdo:pat_id_19085 228224 group of phenomes Acquired dermis elastic tissue disorder with increased elastic tissue Anomalia acquisita dell'elasticità del derma con eccesso di tessuto elastico Anomalie acquise de l'élasticité du derme avec excès de tissus élastique Doença do tecido elástico da derme com aumento do tecido elástico, adquirida Erworbener Defekt des elastischen Hautgewebes mit erhöhter Anzahl der elastischen Fasern Trastorno adquirido del tejido elástico de la dermis con incremento de tejido elástico hrdo:pat_id_19086 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 228227 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Elastose dermique focale tardive type PXE Elastose dermique focale tardive type pseudoxanthome Elastosi dermica focale PXE-simile a esordio tardivo Elastosi dermica focale pseudoxantoma-simile a esordio tardivo Elastosis dérmica focal de aparición tardía tipo PXE Elastosis dérmica focal de aparición tardía tipo pseudoxantoma PXE-like late-onset focal dermal elastosis PXE-ähnliche fokal-dermale Elastose Pseudoxanthoma-like late-onset focal dermal elastosis Elastose dermique focale tardive Elastose dérmica focal de início tardio Elastose, dermale folkale, spät-beginnende Elastosi dermica focale a esordio tardivo Elastosis dérmica focal de aparición tardía Late-onset focal dermal elastosis hrdo:pat_id_19087 Variabel Variabile Variable Variable Variable Variable Variável 228236 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Elastotic striae Elastotische Striae Estrías elastóticas Strie elastotiche Elastose dérmica focal linear Elastose focale linéaire Elastose, lineare fokale Elastosi dermica focale lineare Elastosis dérmica focal lineal Linear focal dermal elastosis hrdo:pat_id_19088 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 228240 238832003 C0406555 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Elastoderma Elastoderma Elastoderma Elastoderma Elastodermia Elastodermie hrdo:pat_id_19089 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 228243 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Elastofibrome dorsal Elastofibroma dorsal Elastofibroma dorsal Elastofibroma dorsale Elastofibroma dorsi Elastofibroma dorsi Elastofibrome hrdo:pat_id_19090 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 228247 403401007 C1274759 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acquired Gronblad-Strandberg-Touraine syndrome Acquired PXE Groenblad-Strandberg-Syndrom, erworbenes PXE acquis PXE acquisito PXE adquirido PXE, erworbene Form Sindrome acquisita di Gronblad-Strandberg-Touraine Syndrome de Gronblad-Strandberg-Touraine acquis Síndrome de Gronblad-Strandberg-Touraine adquirido Acquired pseudoxanthoma elasticum Pseudoxanthoma elasticum, erworbenes Pseudoxanthome élastique acquis Pseudoxantoma elastico acquisito Pseudoxantoma elástico adquirido Pseudoxantoma elástico adquirido hrdo:pat_id_19091 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 228254 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Elastom, juveniles, Typ Weidman Elastom, juveniles, ohne Osteopoikilose Elastoma giovanile di Weidman Elastoma giovanile senza osteopoichilosi Elastoma juvenil de Weidman Elastoma juvenil sin osteopoiquilosis Elastome juvénile de Weidman Elastome juvénile sans ostéopoécilie Juvenile elastoma without osteopoikilosis Naevus elasticus Nevo elastico Nevo elástico Nevus elasticus Nevus élastique Weidman juvenile elastoma Elastoma Elastoma Elastoma Elastoma Elastoma Elastome hrdo:pat_id_19092 Variabel Variabile Variable Variable Variable Variable Variável 228264 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Colagenoma eruptivo Collagenoma eruttivo Collagénome éruptif Disseminated nevus anelasticus Eruptive collagenoma Kollagenom, eruptives Naevus anelasticus, disseminierter Nevo anelastico Nevo anelastico disseminato Nevo anelástico Nevo anelástico diseminado Nevus anelasticus Nevus anelasticus Nevus anélastique Elastoressi papulosa Elastorrexis papular Elastorrhexie papuleuse Elastorrhexis papular Elastorrhexis, papulöse Papular elastorrhexis hrdo:pat_id_19093 Variabel Variabile Variable Variable Variable Variable Variável neant L90.1 L90.2 228272 238829001 C0406550 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Atrofia macular primaria Atrofia maculare primitiva Atrophie maculaire primitive Makulaatrophie, primäre Primary macular atrophy Anetoderma primitivo Anetoderma primário Anetodermia primaria Anetodermie, primäre Anétodermie primitive Primary anetoderma hrdo:pat_id_19094 neant L90.8 228277 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anetoderma ereditario Anetodermia hereditaria Anetodermie, hereditäre Anétodermie héréditaire Atrofia macular hereditaria Atrofia maculare ereditaria Atrophie maculaire familiale Atrophie maculaire héréditaire Hereditary anetoderma Hereditary macular atrophy Makulaatrophie, hereditäre Anetoderma familiar Anetoderma familiare Anetodermia familiar Anetodermie, familiäre Anétodermie familiale Familial anetoderma hrdo:pat_id_19095 Variabel Variabile Variable Variable Variable Variable Variável 228285 19726003 C0406549 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cutis laxa acquisita Cutis laxa acquisita Cutis laxa acquisita Cutis laxa acquisita Acquired cutis laxa Cutis laxa acquis Cutis laxa acquisita Cutis laxa adquirida Cutis laxa adquirido Cutis laxa, erworbene hrdo:pat_id_19096 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 228290 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Papulose de fibras brancas, do pescoço Papulose der Halsregion, fibröse weiße Papulose fibreuse blanche du cou Papulosi fibrosa bianca del collo Papulosis fibrosa blanca del cuello White fibrous papulosis of the neck hrdo:pat_id_19097 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 228293 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Elastocitosi dermica papillare simil-PXE Elastocytose dermique papillaire, type PXE Elastolisis dérmica papilar tipo PXE PXE-like papillary dermal elastocytosis PXE-ähnliche Elastolyse, papilläre dermale Elastocitose da papila dérmica do tipo pseudoxantoma elástico Elastocitosi dermica papillare smil-pseudoxanthoma elasticum Elastocytose dermique papillaire, type pseudoxanthome élastique Elastolisis dérmica papilar tipo pseudoxantoma elástico Pseudoxanthoma elasticum-like papillary dermal elastocytosis Pseudoxanthoma elasticum-ähnliche papilläre dermale Elastolyse hrdo:pat_id_19098 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 228299 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Elastolisi del derma medio Elastolisis de la dermis media Elastolyse du derme moyen Elastólise da derme média Mid-dermal elastolysis Mid-dermale Elastolyse hrdo:pat_id_19099 Normal Normal Normal Normal Normal Normal Normale Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 255110 neant E71.3 228302 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CPT2 forme adulte CPT2 forme myopathique CPT2, adult-onset form CPT2, adulte Form CPT2, forma a esordio nell'età adulta CPT2, forma adulta CPT2, forma miopatica CPT2, forma miopática CPT2, myopathic form CPT2, myopathische Form CPTII des Erwachsenen CPTII forme adulte CPTII forme myopathique CPTII, adult-onset form CPTII, forma a esordio nell'età adulta CPTII, forma adulta CPTII, forma miopatica CPTII, forma miopática CPTII, myopathic form CPTII, myopathische Form Carnitin-Palmitoyl-Transferase II-Mangel des Erwachsenen Carnitin-Palmitoyl-Transferase-Mangel Typ 2 des Erwachsenen Carnitin-Palmitoyl-Transferase-Mangel Typ 2, myopathische Form Carnitine palmitoyl transferase II deficiency, adult-onset form Carnitine palmitoyl transferase deficiency type 2, adult-onset form Carnitine palmitoyl transferase deficiency type 2, myopathic form Deficit di carnitina-palmitoil transferasi II, forma a esordio in età adulta Deficit di carnitina-palmitoil transferasi tipo 2, forma a esordio nell'età adulta Deficit di carnitina-palmitoil transferasi tipo 2, forma miopatica Déficit de carnitina palmitoiltransferasa II, forma adulta Déficit de carnitina palmitoiltransferasa tipo 2, forma adulta Déficit de carnitina palmitoiltransferasa tipo 2, forma miopática Déficit en carnitine palmitoyltransférase II forme adulte Déficit en carnitine palmitoyltransférase type 2 forme adulte Déficit en carnitine palmitoyltransférase type 2 forme myopathique Carnitin-Palmitoyl-Transferase II-Mangel, myopathische Form Carnitine palmitoyl transferase II deficiency, myopathic form Deficit di carnitina-palmitoil transferasi II, forma miopatica Deficiência da carnitina-palmitoil transferase 2, forma miopática Déficit de carnitina palmitoiltransferasa II, forma miopática Déficit en carnitine palmitoyltransférase II forme myopathique hrdo:pat_id_19100 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 600649 neant E71.3 228305 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CPT2 forme hépatocardiomusculaire CPT2 forme infantile sévère CPT2, forma epato-cardio-muscolare CPT2, forma hepatocardiomuscular CPT2, forma infantil grave CPT2, forma infantile grave CPT2, hepatocardiomuscular form CPT2, hepatokardiomuskuläre Form CPT2, schwere infantile Form CPT2, severe infantile form CPTII forme hépatocardiomusculaire CPTII forme infantile sévère CPTII, forma epato-cardio-muscolare CPTII, forma hepatocardiomuscular CPTII, forma infantil grave CPTII, forma infantile grave CPTII, hepatocardiomuscular form CPTII, hepatokardiomuskuläre Form CPTII, schwere infantile Form CPTII, severe infantile form Carnitin-Palmitoyl-Transferase II-Mangel, hepatokardiomuskuläre Form Carnitin-Palmitoyl-Transferase-Mangel Typ 2, hepatokardiomuskuläre Form Carnitin-Palmitoyl-Transferase-Mangel Typ 2, schwere infantile Form Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form Carnitine palmitoyl transferase deficiency type 2, severe infantile form Deficit di carnitina-palmitoil transferasi II, forma epato-cardio-muscolare Deficit di carnitina-palmitoil transferasi tipo 2, forma infantile grave Deficit di carnitina-palmitoil transferasi tipo 2, tipo epato-cardio-muscolare Déficit de carnitina palmitoiltransferasa II, forma hepatocardiomuscular Déficit de carnitina palmitoiltransferasa tipo 2, forma hepatocardiomuscular Déficit de carnitina palmitoiltransferasa tipo 2, forma infantil grave Déficit en carnitine palmitoyltransférase II forme hépatocardiomusculaire Déficit en carnitine palmitoyltransférase type 2 forme hépatocardiomusculaire Déficit en carnitine palmitoyltransférase type 2 forme infantile sévère Carnitin-Palmitoyl-Transferase II-Mangel, schwere infantile Form Carnitine palmitoyl transferase II deficiency, severe infantile form Deficit di carnitina-palmitoil transferasi II, forma infantile grave Deficiência da carnitina-palmitoil transferase 2, forma grave do latente Déficit de carnitina palmitoiltransferasa II, forma infantil grave Déficit en carnitine palmitoyltransférase II forme infantile sévère hrdo:pat_id_19101 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 608836 neant E71.3 228308 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CPT2 forme néonatale CPT2 forme systémique létale CPT2, forma neonatal CPT2, forma neonatale CPT2, forma sistemica letale CPT2, forma sistémica letal CPT2, letale systemische Form CPT2, lethal systemic form CPT2, neonatal form CPT2, neonatale Form CPTII forme néonatale CPTII forme systémique létale CPTII, forma neonatal CPTII, forma neonatale CPTII, forma sistemica letale CPTII, forma sistémica letal CPTII, letale systemische Form CPTII, lethal systemic form CPTII, neonatal form CPTII, neonatale Form Carnitin-Palmitoyl-Transferase II-Mangel, letale systemische Form Carnitin-Palmitoyl-Transferase-Mangel Typ 2, letale systemische Form Carnitin-Palmitoyl-Transferase-Mangel Typ 2, neonatale Form Carnitine palmitoyl transferase II deficiency, lethal systemic form Carnitine palmitoyl transferase deficiency type 2, lethal systemic form Carnitine palmitoyl transferase deficiency type 2, neonatal form Deficit di carnitina-palmitoil transferasi II, forma sistemica letale Deficit di carnitina-palmitoil transferasi tipo 2, forma neonatale Deficit di carnitina-palmitoil transferasi tipo 2, forma sistemica letale Déficit de carnitina palmitoiltransferasa II, forma sistémica letal Déficit de carnitina palmitoiltransferasa tipo 2, forma neonatal Déficit de carnitina palmitoiltransferasa tipo 2, forma sistémica letal Déficit en carnitine palmitoyltransférase II forme systémique létale Déficit en carnitine palmitoyltransférase type 2 forme néonatale Déficit en carnitine palmitoyltransférase type 2 forme systémique létale Carnitin-Palmitoyl-Transferase II-Mangel, neonatale Form Carnitine palmitoyl transferase II deficiency, neonatal form Deficit di carnitina-palmitoil transferasi II, forma neonatale Deficiência da carnitina-palmitoil transferase 2, forma neonatal Déficit de carnitina palmitoiltransferasa II, forma neonatal Déficit en carnitine palmitoyltransférase II forme néonatale hrdo:pat_id_19102 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Variabel Variabile Variable Variable Variable Variable Variável neant D59.1 228312 398937006 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 AHAI con autoanticuerpos fríos AIHA con autoanticuerpos fríos AIHA fredda AIHA froid Cold AIHA cAHA cAHA cAHA cAIHA cAIHA cAIHA Anemia emolitica autoimmune da autoanticorpi freddi Anemia hemolítica autoimune, do frio Anemia hemolítica autoinmune con autoanticuerpos fríos Anämie, autoimmun-hämolytische, Kälte-Typ Anémie hémolytique auto-immune à auto-anticorps froids Autoimmune hemolytic anemia, cold type hrdo:pat_id_19103 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant F51.1 228315 clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hiperinsónia com sono de longa duração, idiopática Hipersomnia idiopática con sueño nocturno prolongado Hypersomnie idiopathique avec augmentation de la durée du sommeil Hypersomnie, idiopathische, mit langer Schlafzeit Idiopathic hypersomnia with long sleep time Ipersonnia idiopatica con aumento della durata del sonno hrdo:pat_id_19104 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter neant F51.1 228318 442292004 C1561855 clinical subtype 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Hiperinsónia sem sono de longa duração, idiopática Hipersomnia idiopática sin sueño nocturno prolongado Hypersomnie idiopathique sans augmentation de la durée du sommeil Hypersomnie, idiopathische, ohne lange Schlafzeit Idiopathic hypersomnia without long sleep time Ipersonnia idiopatica senza aumento della durata del sonno hrdo:pat_id_19105 Variabel Variabile Variable Variable Variable Variable Variável 256730 neant E75.4 228329 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype CLN1 disease CLN1-Krankheit Doença CLN1 Enfermedad CLN1 Maladie CLN1 Malattia CLN1 hrdo:pat_id_19106 Variabel Variabile Variable Variable Variable Variable Variável 610127 neant E75.4 228337 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Cathepsin D deficiency Cathepsin D-Mangel Deficit di catepsina D Déficit de catepsina D Déficit en cathepsine D CLN10 disease CLN10-Krankheit Doença da CLN10 Enfermedad CLN10 Maladie CLN10 Malattia CLN10 hrdo:pat_id_19107 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 204300 neant E75.4 228340 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype CLN4A disease CLN4A-Krankheit Doença CLN4A Enfermedad CLN4A Maladie CLN4A Malattia CLN4A hrdo:pat_id_19108 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 162350 neant E75.4 228343 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype CLN4B disease CLN4B-Krankheit Doença CLN4B Enfermedad CLN4B Maladie CLN4B Malattia CLN4B hrdo:pat_id_19109 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 204200 neant E75.4 228346 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype CLN3 disease CLN3-Krankheit Doença CLN3 Enfermedad CLN3 Maladie CLN3 Malattia CLN3 hrdo:pat_id_1911 1967 Sindrome di Sondheimer Sondheimer syndrome Sondheimer, síndrome de Sondheimer-Syndrom Syndrome de Sondheimer Síndrome de Sondheimer Síndrome de Sondheimer Coarse face - hypotonia - constipation Dysmorphie - hypotonie - constipation Faccia grossolana - ipotonia - costipazione Face grosseira - hipotonia - obstipação Facies tosca - hipotonía - estreñimiento Grobe Gesichtszüge - Hypotonie - Obstipation hrdo:pat_id_19110 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 204500 neant E75.4 228349 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype CLN2 disease CLN2-Krankheit Doença CLN2 Enfermedad CLN2 Maladie CLN2 Malattia CLN2 hrdo:pat_id_19111 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 600143 neant E75.4 228354 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype CLN8 disease CLN8-Krankheit Doença CLN8 Enfermedad CLN8 Maladie CLN8 Malattia CLN8 hrdo:pat_id_19112 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 609055 neant E75.4 228357 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype CLN9 disease CLN9-Krankheit Doença CLN9 Enfermedad CLN9 Maladie CLN9 Malattia CLN9 hrdo:pat_id_19113 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 256731 neant E75.4 228360 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype CLN5 disease CLN5-Krankheit Doença CLN5 Enfermedad CLN5 Maladie CLN5 Malattia CLN5 hrdo:pat_id_19114 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 601780 neant E75.4 228363 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype CLN6 disease CLN6-Krankheit Doença CLN6 Enfermedad CLN6 Maladie CLN6 Malattia CLN6 hrdo:pat_id_19115 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 610951 neant E75.4 228366 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype CLN7 disease CLN7-Krankheit Doença CLN7 Enfermedad CLN7 Maladie CLN7 Malattia CLN7 hrdo:pat_id_19116 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável neant A05.1 228371 398523009 C1739094 clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Botulisme par intoxination Botulismo da intossicazione Botulismo por intoxicación Botulismus, Lebensmittelbedingter Intoxication botulism Intoxination botulinique Intoxination botulique Botulisme alimentaire Botulismo alimentare Botulismo alimentario Botulismo com origem em produtos alimentares Botulismus, ernährungsbedingter Foodborne botulism hrdo:pat_id_19117 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant G60.0 228374 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Neuropathie axonale sévère précoce due à un défict en chaîne légère des neurofilaments Neuropatia assonale grave a esordio precoce da deficit della subunità dei neurofilamenti a catena leggera Neuropatía axonal grave de inicio temprano por déficit de subunidad ligera de neurofilamentos Schwere früh-einsetzende axonale Neuropathie durch Neurofilament-Leichtketten-Mangel Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency Neuropathie axonale sévère précoce par déficit en NEFL Neuropathie, axonale, schwere früh-einsetzende, durch NEFL-Mangel Neuropatia assonale grave a esordio precoce da deficit di NEFL Neuropatia axonal de início precoce por deficiência NEFL, grave Neuropatía axonal grave de inicio precoz por déficit de NEFL Severe early-onset axonal neuropathy due to NEFL deficiency hrdo:pat_id_19118 Variabel Variabile Variable Variable Variable Variable Variável 228379 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cyclosporin-induzierte Follikulotropie Cyclosporine-induced folliculodystrofy Displasia della pilomatrice Displasia pilomatrix Distrofia folicular inducida por ciclosporina Distrofia follicolare indotta dalla ciclosporina Dystrophie du follicule pileux induite par la cyclosporine Pilomatrix dysplasia Pilomatrix-Dysplasie TS TS TS TS TS Trichodysplasia spinulosa Trichodysplasia spinulosa Tricodisplasia espinulosa Tricodisplasia spinulosa VATS VATS VATS VATS VATS Trichodysplasie spinulosa Tricodisplasia espinulosa asociada a virus Tricodisplasia espinulosa associada a vírus Tricodisplasia spinulosa associata a virus Viren-assoziierte Trichodysplasia spinulosa Virus-associated trichodysplasia spinulosa hrdo:pat_id_19119 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613443 neant Q93.5 228384 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Del(5)(q14.3) Del(5)(q14.3) Del(5)(q14.3) Del(5)(q14.3) Del(5)(q14.3) Monosomia 5q14.3 Monosomie 5q14.3 Monosomie 5q14.3 Monosomy 5q14.3 Monosomía 5q14.3 5q14.3 microdeletion syndrome Mikrodeletionssyndrom 5q14.3 Sindrome da microdelezione 5q14.3 Syndrome de microdélétion 5q14.3 Síndrome de microdeleción 5q14.3 Síndrome de microdeleção 5q14.3 hrdo:pat_id_1912 182150 neant Q87.0 1968 malformation syndrome Blefarofimose - telecanto - microstomia Blefarofimosi - telecanto - microstomia Blefarofimosis - telecanthus - microstomía Blepharophimose - Telekanthus - Mikrostomie Blepharophimosis - telecanthus - microstomia Blépharophimosis - télécanthus - microstomie Simosa-Penchaszadeh-Bustos syndrome Simosa-Penchaszadeh-Bustos, síndrome de Simosa-Syndrom Sindrome di Simosa Syndrome de Simosa Síndrome de Simosa Síndrome de Simosa-Penchaszadeh-Bustos Cara plana - microstomia - anomalías de oído Faccia piatta - microstomia - anomalie dell'orecchio Face plana - microstomia - anomalia do pavilhão auricular Face plate - microstomie - anomalie de l'oreille Flat face - microstomia - ear anomaly Gesicht, flaches - Mikrosomie - Ohranomalien hrdo:pat_id_19120 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613330 neant Q77.7 228387 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia espondilo-megaepifisaria-metafisaria Displasia espondilo-megaepifisária-metafisária Displasia spondilomegaepifisaria/metafisaria Dysplasie spondylo-megaépiphysaire-metaphysaire Dysplasie, spondylo-megaepiphysäre-metaepiphysäre Spondylo-megaepiphyseal-metaphyseal dysplasia hrdo:pat_id_19121 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613451 neant Q87.0 228390 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ALX4-abhängige FNDAG ALX4-related FNDAG Craniofrontonasal dysplasia with alopecia and hypogonadism Displasia cranio-fronto-nasale con alopecia e ipogonadismo Displasia craniofrontonasal con alopecia e hipogonadismo Displasia frontonasal con alopecia y anormalidades genitales Displasia frontonasale con alopecia e anomalie genitali Dysplasie craniofrontonasale - alopécie - hypogonadisme FNDAG associata a ALX4 FNDAG associée à ALX4 Fronto-nasale Dysplasie mit Alopezie und Genitalanomalien Frontonasal dysplasia with alopecia and genital abnomality Displasia frontonasal - alopecia - anomalia genital Displasia frontonasal con alopecia y anomalía genital Displasia frontonasale - alopecia - anomalia dei genitali Dysplasie frontonasale avec alopécie et anomalie génitale Fronto-nasale Dysplasie - Alopezie - Genitalanomalien Frontonasal dysplasia with alopecia and genital anomaly hrdo:pat_id_19123 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q87.0 228396 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Ptose - limitação do movimento ocular superior - ausência do punctum lacrimal Ptosi - limitazione dei movimenti oculari verso l'alto - assenza dei punti lacrimali Ptosis - Bewegungseinschränkung des Auges - Fehlen des Tränenpünktchens Ptosis - mouvement oculaire supérieur limité - absence de point lacrymal Ptosis - movimiento ocular limitado hacia arriba - ausencia del punto lagrimal Ptosis - upper ocular movement limitation - absence of lacrimal punctum hrdo:pat_id_19124 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q92.3 228399 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dup(8)(q12) Dup(8)(q12) Dup(8)(q12) Dup(8)(q12) Trisomia 8q12 Trisomie 8q12 Trisomy 8q12 Trisomía 8q12 8q12 microduplication syndrome Mikroduplikationssyndrom 8q12 Sindrome da microduplicazione 8q12 Syndrome de microduplication 8q12 Síndrome de microdeleção 8q12 Síndrome de microduplicación 8q12 hrdo:pat_id_19125 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q93.5 228402 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Del(2)(q23.1) Del(2)(q23.1) Del(2)(q23.1) Del(2)(q23.1) Del(2)(q23.1) Monosomia 2q23.1 Monosomie 2q23.1 Monosomie 2q23.1 Monosomy 2q23.1 Monosomía 2q21 Pseudo-Angelman syndrome Pseudo-Angelman-Syndrom Sindrome pseudo-Angelman Syndrome pseudo-Angelman Síndrome pseudo-Angelman 2q23.1 microdeletion syndrome Mikrodeletionssyndrom 2q23.1 Sindrome da microdelezione 2q23.1 Syndrome de microdélétion 2q23.1 Síndrome de microdeleción 2q23.1 Síndrome de microdeleção 2q23.1 hrdo:pat_id_19126 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614132 neant Q87.0 228407 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome da deficit di TMCO1 Syndrome de déficit en TMCO1 Síndrome da deficiência no TMCO1 Síndrome de defecto de TMCO1 TMCO1 defect syndrome TMCO1-Defekt-Syndrom hrdo:pat_id_19127 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 157700 neant Q87.8 228410 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Herzkrankheit, polyvalvuläre PHD syndrome PHD-Syndrom Syndrome PHD Síndrome PHD Polyvalvular heart disease syndrome Sindrome della cardiopatia polivalvolare Syndrom der polyvalvulären Herzfehlbildung Syndrome de la maladie cardiaque polyvalvulaire Síndrome de doença de coração polivalvular Síndrome de la enfermedad cardíaca polivalvular hrdo:pat_id_19128 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant Q92.3 228415 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dup(5)(q35) Dup(5)(q35) Dup(5)(q35) Dup(5)(q35) Trisomia 5q35 Trisomie 5q35 Trisomy 5q35 Trisomía 5q35 5q35 microduplication syndrome Mikroduplikationssyndrom 5q35 Sindrome da microduplicazione 5q35 Syndrome de microduplication 5q35 Síndrome de microduplicación 5q35 Síndrome de microduplicação 5q35 hrdo:pat_id_1913 C536384 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Friedman%5B1au%5D+faces%5Btw%5D+Goodman Q87.0 1969 C2931183 malformation syndrome Friedman-Goodman syndrome Friedman-Goodman, síndrome de Frieman-Goodman-Syndrom Sindrome di Friedman-Goodman Syndrome de Friedman-Goodman Síndrome de Friedman-Goodman Síndrome de Frieman-Goodman FACES syndrome Faces-Syndrom Sindrome FACES Syndrome FACES Síndrome FACES Síndrome FACES hrdo:pat_id_19130 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 613402 neant 228418 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 MCSZ MCSZ MCSZ MCSZ MCSZ Microcefalia - convulsiones - retraso del desarrollo Microcefalia - convulsões - atraso do desenvolvimento Microcefalia - epilessia - ritardo dello sviluppo Microcephaly - seizures - developmental delay Microcéphalie - épilepsie - retard de développement Mikrozephalie - Krämpfe - Entwicklungsverzögerung hrdo:pat_id_19131 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 614172 neant 228423 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections Deficiencia de células dendríticas, monocitos, B y NK linfoides Deficiencia de monocitos - células B - natural killer - dendríticas Deficit delle cellule dendritiche, monocitiche, B e NK Deficit delle cellule dendritiche, natural killer, B e monocitiche Dentritic cell, monocyte, B and NK lymphoid deficiency Déficit de células dendríticas, monocitos, B y NK linfoides Déficit de monocitos - células B - natural killer - dendríticas Déficit en celule dendritique, monocyte, B et NK GATA2-Defekt Immundefekt, kombinierter, mit Suszeptivität für Infektionen durch Mykobakterien, Viren und Pilze Immunodeficienza combinata con suscettibilità alle infezioni micobatteriche, virali e micotiche Immunodéficience combinée à une susceptibilité aux mycobactéries et aux infections virales et fongiques Inmunodeficiencia combinada con susceptibilidad a infecciones por micobacterias, virus y hongos Mangel an dendritischen Zellen, Monozyten, NK und B-Zellen MonoMAC MonoMAC MonoMAC MonoMAC MonoMAC Monocitopenia e sindrome da infezione micobatterica Monocitopenia y síndrome de infección micobacteriana Monocyte - B - natural killer - dendritic cell deficiency Monocytopenia and mycobacterial infection syndrome Monocytopénie et syndrome de l'infection bactérienne Monozytopenie und Mykobakterien-Infektionssyndrom Monocitopenia com suscetibilidade a infeções Monocitopenia con susceptibilidad a infecciones Monocitopenia con suscettibilità alle infezioni Monocytopenia with susceptibility to infections Monocytopénie avec susceptibilité aux infections Monozytopenie mit erhöhter Infektionsanfälligkeit hrdo:pat_id_19132 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613385 neant M32 228426 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Autoimmunkrankheit, multisystemische syndromale, durch Itch-Mangel Doença autoimune multissistémica por deficiência no Itch, sindrómica Enfermedad autoinmune multisistémica sindrómica por déficit de Itch Maladie autoimmune multisystémique syndromique due au défict en Itch Malattia autoimmune multisistemica sindromica da deficit di Itch Syndromic multisystem autoimmune disease due to Itch deficiency hrdo:pat_id_19133 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613327 neant E88.1 G71.0 228429 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 GCL4 GCL4 GCL4 GCL4 GCL4 Generalized congenital lipodystrophy type 4 Lipodistrofia congénita generalizada tipo 4 Lipodystrophie congénitale généralisée type 4 Generalisierte Lipodystrophie mit Muskeldystrophie, kongenital Generalized congenital lipodystrophy with myopathy Lipodistrofia congenita generalizzata con distrofia muscolare Lipodistrofia congénita generalizada com distrofia muscular Lipodistrofia congénita generalizada con miopatía Lipodystrophie congénitale généralisée avec myopathie hrdo:pat_id_19134 300310 300755 601495 612692 613500 613501 613502 613506 615214 neant 229717 disease Agamaglobulinemia isolada Agammaglobulinemia aislada Agammaglobulinemia isolata Agammaglobulinämie, isolierte Agammaglobulinémie isolée Isolated agammaglobulinemia hrdo:pat_id_19135 229720 group of phenomes Agamaglobulinemia sindrómica Agammaglobulinemia sindrómica Agammaglobulinämie, syndromale Agammaglobulinémie syndromique Syndromic agammaglobulinemia Syndromic agammaglobulinemia hrdo:pat_id_1914 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 220219 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Facial+dysmorphism+macrocephaly+myopia+dandy+walker Q87.8 1970 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dismorfia facial - macrocefalia - miopia - Dandy-Walker Dismorfia facial - macrocefalia - miopía - malformación de Dandy-Walker Dismorfismo facciale - macrocefalia - miopia - malformazione di Dandy Walker Dysmorphie - macrocéphalie - myopie - malformation de Dandy-Walker Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation Gesichtsdysmorphie - Makrozephalie - Myopie - Dandy-Walker-Malformation hrdo:pat_id_19141 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável neant A05.1 230800 clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Botulisme par toxi-infection Toxi-infection botulinique Toxi-infection botulique Toxin-mediated infective botulism Botulisme toxi-infectieux Botulismo infeccioso Botulismo infeccioso por toxinas Botulismo infettivo tossina-mediato Botulismus, infektiöser Toxin-mediated infectious botulism hrdo:pat_id_19142 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 606408 neant Q79.6 230839 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 EDS type classic-like EDS, classic-like type EDS, tipo simil-classico EDS, ähnlich klassischer Typ Ehlers-Danlos syndrome, classic-like type SED tipo clásico like SED type classic-like Syndrome d'Ehlers-Danlos type classic-like Ehlers-Danlos syndrome due to tenascin-X deficiency Ehlers-Danlos-Syndrom, ähnlich klassischer Typ Sindrome di Ehlers-Danlos, tipo simil-classico Syndrome d'Ehlers-Danlos par déficit en tenascin-X Síndrome de Ehlers-Danlos tipo clásico like Síndrome de Ehlers-Danlos, tipo clássico-like hrdo:pat_id_19143 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q79.6 230845 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 EDS type vasculaire-like EDS, tipo simil-vascolare EDS, vascular-like type EDS, ähnlich vaskulärer Typ SED tipo vascular like SED type vasculaire-like Ehlers-Danlos syndrome, vascular-like type Ehlers-Danlos-Syndrom, ähnlich vaskulärer Typ Sindrome di Ehlers-Danlos, tipo simil-vascolare Syndrome d'Ehlers-Danlos type vasculaire-like Síndrome de Ehlers-Danlos tipo vascular like Síndrome de Ehlers-Danlos, tipo vascular-like hrdo:pat_id_19144 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 225320 neant Q79.6 230851 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 EDS type cardiaque valvulaire EDS, cardiac valvular type EDS, tipo cardiaco valvolare EDS, ähnlich kardialer Typ SED tipo cardiaco valvular SED type cardiaque valvulaire Ehlers-Danlos syndrome, cardiac valvular type Ehlers-Danlos-Syndrom, ähnlich kardialer Typ Sindrome di Ehlers-Danlos, tipo cardiaco valvolare Syndrome d'Ehlers-Danlos type cardiaque valvulaire Síndrome de Ehlers-Danlos tipo cardiaco valvular Síndrome de Ehlers-Danlos, tipo valvular cardíaco hrdo:pat_id_19145 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q78.0 Q79.6 230857 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 EDS/OI syndrome EDS/OI-Syndrom Sindrome di EDS/OI Syndrome EDS/OI Syndrome SED/OI Síndrome SED/OI Ehlers-Danlos/Osteogenesis imperfecta-Syndrom Ehlers-Danlos/osteogenesis imperfecta syndrome Sindrome di Ehlers-Danlos/osteogenesi imperfetta Syndrome d'Ehlers-Danlos/ostéogenèse imparfaite Síndrome Ehlers-Danlos/osteogénese imperfeita Síndrome de Ehlers-Danlos/osteogénesis imperfecta hrdo:pat_id_19146 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 122450 neant G50.8 231013 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Anestesia congenita del nervo trigemino Anestesia congénita del nervio trigémino Anestesia trigeminal congénita Anesthésie congénitale du nerf trijumeau Congenital trigeminal anesthesia Trigeminale Anaesthesie, kongenitale hrdo:pat_id_19147 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 133000 neant L59.8 231031 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Enfermedad de Lane Erythème palmo-plantaire symétrique héréditaire Krankheit der roten Handinnenflächen Lane disease Maladie de Lane Malattia dei palmi rossi Malattia di Lane Red palms disease Syndrome des paumes rouges Síndrome de las palmas rojas Eritema palmar hereditario Eritema palmar hereditário Eritema palmare ereditario Erythema palmare hereditarium Erythema palmaris hereditarium Erythème palmaire héréditaire hrdo:pat_id_19148 Variabel Variabile Variable Variable Variable Variable Variável 150900 151001 neant L81.4 231040 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Familial lentigines profusa Familial multiple lentigines syndrome without systemic involvement Familiäres Multiple-Lentigines-Syndrom ohne systemische Beteiligung Lentiggini diffuse familiari Lentiginosis profusa, familiäre Sindrome delle lentiggini multiple familiari senza interessamento sistemico Syndrome des lentigines multiples familial sans manifestation systémique Síndrome de lentígines múltiples familiar sin afectación sistémica Familial generalized lentiginosis Lentigginosi generalizzata familiare Lentiginose generalizada familiar Lentiginose généralisée familiale Lentiginosis generalizada familiar Lentiginosis, generalisierte, familiäre Form hrdo:pat_id_19152 231080 particular clinical situation in a disease or syndrome Hochgradigen Neoplasie der Barrett-Schleimhaut Displasia de alto grau em doentes com esófago de Barrett Displasia de grado alto en pacientes con esófago de Barrett Displasia di alto grado nei pazienti affetti da esofago di Barrett Dysplasie de haut grade chez les patients présentant un oesophage de Barrett High-grade dysplasia in patients with Barrett esophagus Hochgradige Dysplasie in Patienten mit Barrett-Ösophagus hrdo:pat_id_19153 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 609322 613325 neant 231108 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Familial rhabdoid tumor Rhabdoider Tumor, familiärer Tumeur rhabdoide familiale Tumor rabdoide familiar Tumor rabdóide familiar Tumore rabdoide familiare hrdo:pat_id_19154 Variabel Variabile Variable Variable Variable Variable Variável 10013706 neant M32.0 231111 201436003 80258006 C0263591 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown DILE DILE DILE DILE DILE Drug-induced lupus erythematosus Lupus eritematoso farmaco-indotto Lupus eritematoso inducido por medicamentos Lupus eritmatoso induzido por fármacos Lupus erythematodes, Medikamenteninduzierter Lupus érythémateux induit par les médicaments hrdo:pat_id_19155 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q87.3 231117 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch etiological subtype Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 Beckwith-Wiedemann-Syndrom durch Imprintingdefekt von 11p15 Sindrome di Beckwith-Wiedemann da difetto dell'imprinting di 11p15 Syndrome de Beckwith-Wiedemann dû à un défaut d'empreinte de la région 11p15 Síndrome de Beckwith-Wiedemann por defectos de impronta de la región 11p15 Síndrome de Beckwith-Wiedemann por defeito no 'imprinting' de 11q15 hrdo:pat_id_19156 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q87.3 231120 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch etiological subtype Beckwith-Wiedemann syndrome due to CDKN1C mutation Beckwith-Wiedemann-Syndrom durch CDKN1C-Mangel Sindrome di Beckwith-Wiedemann da deficit di CDKN1C Syndrome de Beckwith-Wiedemann dû à une mutation de CDKN1C Síndrome de Beckwith-Wiedemann por deficiência no gene CDKN1C Síndrome de Beckwith-Wiedemann por déficit de CDKN1C hrdo:pat_id_19158 neant Q87.3 231127 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch etiological subtype Beckwith-Wiedemann syndrome due to 11p15 microdeletion Beckwith-Wiedemann-Syndrom durch Mikrodeletion 11p15 Sindrome di Beckwith-Wiedemann da microdelezione 11p15 Syndrome de Beckwith-Wiedemann dû à une microdélétion 11p15 Síndrome de Beckwith-Wiedemann por microdeleção 11q15 Síndrome de Beckwith-Wiedemann por una microdeleción 11p15 hrdo:pat_id_19159 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q87.3 231130 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch etiological subtype Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion Beckwith-Wiedemann-Syndrom durch 11p15 Translokation/Inversion Sindrome di Beckwith-Wiedemann da traslocazione/inversione 11p15 Syndrome de Beckwith-Wiedemann dû à une translocation/inversion 11p15 Síndrome de Beckwith-Wiedemann por translocación/inversión 11p15 Síndrome de Beckwith-Wiedemann por translocação/inversão 11q15 hrdo:pat_id_1916 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 227270 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Faciocardiomelic+dysplasia+lethal Q87.8 1972 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia facio-cardio-mélica letal Displasia faciocardiomélica Dysplasie facio-cardio-mélique létale Dysplasie, faziokardiomele letale Lethal faciocardiomelic dysplasia Sindrome facio-cardio-melica hrdo:pat_id_19160 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 180860 neant Q87.1 231137 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch etiological subtype Silver-Russell syndrome due to 7p11.2-p13 microduplication Silver-Russell syndrome due to dup(7)(p11.2p13) Silver-Russell syndrome due to trisomy 7p11.2-p13 Silver-Russell syndrome due to trisomy 7p11.2p13 Silver-Russell-Syndrom durch Trisomie 7p11.2-p13 Silver-Russell-Syndrom durch dup(7)(p11.2p13) Sindrome di Silver-Russell da dup(7)(p11.2p13) Sindrome di Silver-Russell da microduplicazione 7p11.2-p13 Sindrome di Silver-Russell da trisomia 7p11.2-p13 Sindrome di Silver-Russell da trisomia 7p11.2p13 Syndrome de Silver-Russell dû à une dup(7)(p11.2p13) Syndrome de Silver-Russell dû à une microduplication 7p11.2-p13 Syndrome de Silver-Russell dû à une trisomie 7p11.2-p13 Syndrome de Silver-Russell dû à une trisomie 7p11.2p13 Síndrome de Silver-Russell debido a una dup(7)(p11.2p13) Síndrome de Silver-Russell debido a una microduplicación 7p11.2-p13 Síndrome de Silver-Russell debido a una trisomía 7p11.2-p13 Síndrome de Silver-Russell debido a una trisomía 7p11.2p13 Silver-Russell syndrome due to 7p11.2p13 microduplication Silver-Russell-Syndrom durch Mikrodeletion 7p11.2p13 Sindrome di Silver-Russell da microduplicazione 7p11.2p13 Syndrome de Silver-Russell dû à une microduplication 7p11.2p13 Síndrome de Silver-Russell debido a una microduplicación 7p11.2p13 Síndrome de Silver-Russell por microduplicação 7p12 hrdo:pat_id_19161 180860 neant Q87.1 231140 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch etiological subtype Silver-Russell syndrome due to imprinting defect of 11p15 Silver-Russell-Syndrom durch Imprintingdefekt von 11p15 Sindrome di Silver-Russell da difetto dell'imprinting di 11p15 Syndrome de Silver-Russell dû à un défaut d'empreinte de la région 11p15 Síndrome de Silver-Russell por defectos de impronta de la región 11p15 Síndrome de Silver-Russell por deficiência de impressão 11q15 hrdo:pat_id_19162 180860 neant Q87.1 231144 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch etiological subtype Silver-Russell syndrome due to 11p15 microduplication Silver-Russell-Syndrom durch Mikroduplikation 11p15 Sindrome di Silver-Russell da microduplicazione 11p15 Syndrome de Silver-Russell dû à une microduplication 11p15 Síndrome de Silver-Russell por microduplicación 11p15 Síndrome de Silver-Russell por microduplicação 11p15 hrdo:pat_id_19163 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q87.1 231147 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch etiological subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 UPD(11)mat UPD(11)mat UPD(11)mat UPD(11)mat UPD(11)mat Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 Silver-Russell-Syndrom durch maternale uniparentale Disomie von Chromosom 11 Sindrome di Silver-Russell da disomia uniparentale materna del cromosoma 11 Syndrome de Silver-Russell dû à une disomie uniparentale maternelle du chromosome 11 Síndrome de Silver-Russell debido a una disomía uniparental materna del cromosoma 11 Síndrome de Silver-Russell por dissomia uniparental materna do cromossoma 11 hrdo:pat_id_19165 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 609889 neant D81.8 231154 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo etiological subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CID T+ B+ da deficit parziale di RAG1 CID T+ B+ due to partial RAG1 deficiency CID T+B+ due à un déficit partiel en RAG1 CID T+B+ por deficiencia parcial de RAG1 CID T+B+ por déficit parcial de RAG1 CID avec expansion des cellules T gamma-delta CID with expansion of gamma delta T cells DIC T+B+ due à un déficit partiel en RAG1 DIC avec expansion des cellules T gamma-delta Inmunodeficiencia combinada T+B+ por deficiencia parcial de RAG1 SCID T+ B+ durch partiellen RAG1-Defekt Combined immunodeficiency T+ B+ due to partial RAG1 deficiency Déficit immunitaire commbiné T+B+ due à un déficit partiel en RAG1 Immundefekt, kombinierter schwerer, T+ B+, durch partiellen RAG1-Mangel Immunodeficienza combinata T+ B+ da deficit parziale di RAG1 Imunodeficiência combinada grave T+ B+ por deficiência parcial do RAG1 Inmunodeficiencia combinada T+B+ por déficit parcial de RAG1 hrdo:pat_id_19166 Variabel Variabile Variable Variable Variable Variable Variável 105800 300870 608542 609122 610213 611892 612161 612162 612586 612587 614252 neant 231160 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease Aneurisma en baya familiar Aneurisma familiare a bacca Anévrisme en baies familial Beerenaneurysma, familiäres Familial berry aneurysm Aneurisma cerebral sacular familiar Aneurisma sacculare cerebrale familiare Aneurisma sacular familiar Aneurysma, sakkuläres zerebrales, familiäre Form Anévrisme cérébral sacculaire familial Familial cerebral saccular aneurysm hrdo:pat_id_19167 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 276900 276904 601067 602083 602097 606943 612632 614869 614990 neant H35.5 231169 232057003 C0339533 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 USH1 USH1 USH1 USH1 USH1 Sindrome di Usher, tipo 1 Syndrome d'Usher type 1 Síndrome de Usher tipo 1 Síndrome de Usher tipo 1 Usher syndrome type 1 Usher-Syndrom Typ 1 hrdo:pat_id_19168 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 276901 605472 611383 neant H35.5 231178 232058008 C0339534 C1568249 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 USH2 USH2 USH2 USH2 USH2 Sindrome di Usher, tipo 2 Syndrome d'Usher type 2 Síndrome de Usher tipo 2 Síndrome de Usher tipo 2 Usher syndrome type 2 Usher-Syndrom Typ 2 hrdo:pat_id_19169 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 276902 500004 614504 neant H35.5 231183 C1568248 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 USH3 USH3 USH3 USH3 USH3 Sindrome di Usher, tipo 3 Syndrome d'Usher type 3 Síndrome de Usher tipo 3 Síndrome de Usher tipo 3 Usher syndrome type 3 Usher-Syndrom Typ 3 hrdo:pat_id_1917 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 227280 C536388 neant Q87.8 1973 C0795936 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Eastman-Bixler syndrome Eastman-Bixler-Syndrom Sindrome di Eastman-Bixler Syndrome d'Eastman-Bixler Síndrome de Eastman-Bixler Faciocardiorenal syndrome Fazio-kardio-renales Syndrom Sindrome facio-cardio-renale Syndrome facio-cardio-rénal Síndrome de facio-cardio-renal Síndrome faciocardiorenal hrdo:pat_id_19170 Variabel Variabile Variable Variable Variable Variable Variável 240500 607594 613493 613494 613495 613496 614699 614700 neant D83.8 231205 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch etiological subtype CVID sans anomalie génétique connue Common variable immunodeficiency without known genetic defect Déficit immunitaire commun variable sans anomalie génétique connue Immundefekt, allgemeiner variabler, ohne genetischen Defekt Immunodeficienza variabile comune senza difetto genetico noto Imunodeficiência variável comum sem deficiência genética Inmunodeficiencia variable común sin anomalía genética conocida hrdo:pat_id_19171 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613985 neant D56.1 231214 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Anemia de Cooley Anemia di Cooley Anemia mediterranea Anemia mediterránea Anémie de Cooley Anémie méditerranéenne Cooley anemia Cooley-Anämie Mediterranean anemia Mittelmeeranämie Thalassémie bêta majeure Beta talassemia major Beta-Thalassämie major Beta-talasemia mayor Beta-thalassemia major Bêta-thalassémie majeure Talassemia beta major hrdo:pat_id_19172 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 613985 neant D56.1 231222 191189009 C0472767 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Thalassémie bêta intermédiaire Beta talassemia intermedia Beta-Thalassämie intermedia Beta-talasemia intermedia Beta-thalassemia intermedia Bêta-thalassémie intermédiaire Talassemia beta intermédia hrdo:pat_id_19173 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 603902 neant D56.1 231226 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Beta talassemia con corpi di inclusione Beta-Thalassämie mit Einschlusskörpern Beta-talasemia con cuerpos de inclusión Bêta-thalassémie à corps d'inclusion Inclusion body beta-thalassemia Thalassémie bêta dominante Thalassémie bêta à corps d'inclusion Beta talassemia dominante Beta-Thalassämie, dominante Beta-talasemia dominante Bêta-thalassémie dominante Dominant beta-thalassemia Talassemia beta dominante hrdo:pat_id_19174 Variabel Variabile Variable Variable Variable Variable Variável neant D58.2 231230 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo group of phenomes Beta talassemia associata a altro difetto dell'Hb Beta talassemia associata ad altra anomalia dell'emoglobina Beta-Thalassämie mit assoziierter sonstiger Hb-Anomalie Beta-talasemia asociada a otra anomalía de la Hb Beta-thalassemia associated with another Hb anomaly Bêta-thalassémie associée à une autre anomalie de l'Hb Thalassémie bêta associée à une autre anomalie de l'Hb Thalassémie bêta associée à une autre anomalie de l'hémoglobine Beta talassemia associata ad altro difetto dell'emoglobina Beta-Thalassämie mit assoziierter sonstiger Hämoglobin-Anomalie Beta-talasemia asociada a otra anomalía de la hemoglobina Beta-thalassemia associated with another hemoglobin anomaly Bêta-thalassémie associée à une autre anomalie de l'hémoglobine Talassemia beta associada a anomalia da hemoglobina hrdo:pat_id_19175 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 141749 10012236 neant D56.2 231237 16360009 C0271985 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Thalassémie delta-bêta Delta-beta talassemia Delta-beta thalassemia Delta-beta-Thalassämie Delta-beta-talasemia Delta-bêta-thalassémie Talassemia delta-beta hrdo:pat_id_19176 neant D58.2 231242 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown C - beta-talasemia C- beta talassemia C- beta-thalassemia C-Beta-Thalassämie C-bêta-thalassémie HbC - Beta-Thalassämie HbC - beta talassemia HbC - beta-talasemia HbC - beta-thalassemia HbC - bêta-thalassémie Thalassémie bêta - hémoglobine C Thalassémie bêta -HbC Emoglobina C - beta talassemia Hemoglobin C - beta-thalassemia Hemoglobina C - beta-talasemia Hemoglobina C - talassemia beta Hämoglobin C - Beta-Thalassämie Hémoglobine C - bêta-thalassémie hrdo:pat_id_19177 neant D58.2 231249 234392002 C0472777 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown E - beta-talasemia E-beta talassemia E-beta-thalassemia E-bêta-thalassémie HbE - Beta-Thalassämie HbE - beta talassemia HbE - beta-talasemia HbE - beta-thalassemia HbE - bêta-thalassémie Thalassémie bêta -HbE Thalassémie bêta -hémoglobine E Emoglobina E - beta talassemia Hemoglobin E - beta-thalassemia Hemoglobina E - beta-talasemia Hemoglobina E - talassemia beta Hämoglobin E - Beta-Thalassämie Hémoglobine E - bêta-thalassémie hrdo:pat_id_19179 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant D56.1 L67.8 231256 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Beta talassemia - tricotiodistrofia Beta-Thalassämie - Trichothiodystrophie Beta-talasemia - tricotiodistrofia Beta-thalassemia - trichothiodystrophy Bêta-thalassémie - trichothiodystrophie Talassemia beta - tricotiodistrofia hrdo:pat_id_1918 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 227330 neant Q87.8 1974 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Aarskog-like syndrome Aarskog-like, síndrome Aarskog-ähnliches Syndrom Facio-digito-genital syndrome, Kuwait type Fazio-digito-genitales Syndrom vom Typ Kuwait Sindrome Aarskog-simile Sindrome di Teebi-Naguib-Al Alawadi Sindrome facio-digito-genitale, tipo Kuwait Syndrome d'Aarskog-like Syndrome de Teebi-Naguib-al Awadi Syndrome facio-digito-génital type Koweït Síndrome Aarskog like Síndrome Aarskog-like Síndrome de Teebi-Naguib-Alawadi Síndrome de Teebi-Naguib-Alawadi Síndrome facio-dígito-genital, tipo Kuwait Teebi-Naguib-Alawadi syndrome Teebi-Naguib-Alawadi, síndrome de Teebi-Naguib-Alawadi-Syndrom Autosomal recessive facio-digito-genital syndrome Fazio-digito-genitales Syndrom, autosomal-rezessive Form Sindrome facio-digito-genitale, forma recessiva Syndrome facio-digito-génital autosomique récessif Síndrome facio-digito-genital tipo recessiva Síndrome facio-dígito-genital autosómico recesivo hrdo:pat_id_19180 neant D58.2 231386 group of phenomes Thalassémie bêta avec maladie associée Beta talassemia associata ad altri segni Beta-Thalassämie mit weiteren Manifestationen Beta-talasemia con enfermedades asociadas Beta-thalassemia with other manifestations Bêta-thalassémie avec maladie associée Talassemia beta associada a uma doença hrdo:pat_id_19182 314050 neant D56.1 D69.4 231393 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Thalassémie bêta - thrombocytopénie liée à l'X XLTT XLTT XLTT XLTT XLTT Beta talassemia - trombocitopenia legata all'X Beta-Thalassämie - X-chromosomale Thrombozytopenie Beta-talasemia - trombocitopenia ligada al X Beta-thalassemia - X-linked thrombocytopenia Bêta-thalassémie - thrombocytopénie liée à l'X Talassemia beta - trombocitopenia ligada ao X hrdo:pat_id_19184 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 300448 neant D46.7 D56.0 231401 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ATMDS ATMDS ATMDS ATMDS ATMDS Acquired HbH disease Acquired hemoglobin H disease Emoglobinopatia H acquisita Enfermedad de la HbH adquirida Enfermedad de la hemoglobina H adquirida HbH-Krankheit, erworbene Hämoglobin-H-Krankheit, erworbene Hémoglobinose H acquise Maladie HbH acquise Malattia HbH acquisita Thalassémie alpha - syndrome myélodysplasique Alfa talassemia - sindrome mielodisplastica Alfa-talasemia - síndrome mielodisplásico Alpha thalassémie - syndrome myélodysplasique Alpha-Thalassämie - Myelodysplastisches Syndrom Alpha-thalassemia - myelodysplastic syndrome Talassemia beta - síndrome mielodisplásico hrdo:pat_id_19185 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável neant G61.0 231413 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes GBS, Variante Variant du SGB Variant of GBS Variante del GBS Variante di GBS Guillain-Barré-Syndrom, Variante Variant du syndrome de Guillain-Barré Variant of Guillain-Barré syndrome Variante del síndrome de Guillain-Barré Variante della sindrome di Guillain-Barré Variante do síndrome de Guillain-Barré hrdo:pat_id_19186 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável neant G61.0 231416 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes Regional variant of GBS Variant régional du SGB Variante regional del GBS Variante regionale di GBS Regional variant of Guillain-Barré syndrome Regionale Variante des Guillain-Barré-Syndroms Variant régional du syndrome de Guillain-Barré Variante regional del síndrome de Guillain-Barré Variante regional do síndrome de Guillain-Barré Variante regionale della sindrome di Guillain-Barré hrdo:pat_id_19187 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável neant G61.0 231419 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes Functional variant of GBS Variant fonctionnel du SGB Variante funcional del GBS Variante funzionale di GBS Functional variant of Guillain-Barré syndrome Funktionale Variante des Guillain-Barré-Syndroms Variant fonctionnel du syndrome de Guillain-Barré Variante funcional del síndrome de Guillain-Barré Variante funcional do síndrome de Guillain-Barré Variante funzionale della sindrome di Guillain-Barré hrdo:pat_id_19189 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável neant G61.0 231426 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch disease Faiblesse pharyngo-cervico-brachiale PCB variant of GBS PCB variant of Guillain-Barré syndrome Pharyngeal-cervical-brachial weakness Pharyngo-cervico-brachial variant of GBS Pharyngo-cervico-brachial variant of Guillain-Barré syndrome Variant PCB du SGB Variant PCB du syndrome de Guillain-Barré Variant pharyngo-cervico-brachial du SGB Guillain-Barré-Syndrom, pharyngeal-zervikal-brachiale Variante Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome Variant pharyngo-cervico-brachial du syndrome de Guillain-Barré Variante faringea-cervical-braqueal da síndrome de Guillain-Barré hrdo:pat_id_19190 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável neant G61.0 231445 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch disease Paraparetic variant of GBS Variant paraparétique du SGB Variante paraparetica di GBS Variante paraparética del GBS Paraparetic variant of Guillain-Barré syndrome Paraparetische Variante des Guillain-Barré-Syndroms Variant paraparétique du syndrome de Guillain-Barré Variante paraparetica della sindrome di Guillain-Barré Variante paraparética da síndrome de Guillain-Barré Variante paraparética del síndrome de Guillain-Barré hrdo:pat_id_19191 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável neant G61.0 231450 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch disease Acute pure sensory GBS Acute pure sensory Guillain-Barré syndrome GBS sensorial puro agudo GBS sensoriale pura acuta Guillain-Barré-Syndrom, akutes reines sensorisches SGB sensoriel pur aiguë Sindrome sensoriale pura acuta di Guillain-Barré Syndrome de Guillain-Barré sensoriel pur aiguë Síndrome de Guillain-Barré sensorial puro agudo Acute pure sensory neuropathy Neuronopathie, akute reine sensorische Neuropathie sensorielle pure aiguë Neuropatia sensorial pura aguda Neuropatia sensoriale pura acuta Neuropatía sensorial pura aguda hrdo:pat_id_19192 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável neant G61.0 231457 430042004 C2315246 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch disease Acute panautonomic GBS Acute panautonomic Guillain-Barré syndrome Acute panautonomic neuropathy GBS panautonomica acuta GBS panautonómico agudo Guillain-Barré-Syndrom, akutes panautonomisches Neuropathie panautonomique aiguë Neuropatia panautonomica acuta Neuropatía panautonómica aguda Panautonomische Neuropathie, akute SGB panautonomique aiguë Sindrome panautonomica acuta di Guillain-Barré Syndrome de Guillain-Barré panautonomique aiguë Síndrome de Guillain-Barré panautonómico agudo Acute pandysautonomia Pandisautonomia acuta Pandisautonomia aguda Pandisautonomía aguda Pandysautonomie aiguë Pandysautonomie, akute hrdo:pat_id_19193 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável neant G61.0 231466 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch disease ASAN ASAN ASAN ASAN ASAN Acute sensory ataxic GBS Acute sensory ataxic Guillain-Barré syndrome GBS atassica sensoriale acuta GBS atáxico sensorial agudo Guillain-Barré-Syndrom, akutes ataxische sensorisches SGB ataxique sensoriel aiguë Sindrome atassica sensoriale acuta di Guillain-Barré Syndrome de Guillain-Barré ataxique sensoriel aiguë Síndrome de Guillain-Barré atáxico sensorial agudo Acute sensory ataxic neuropathy Neuropathie ataxique sensorielle aiguë Neuropathie, akute ataxische sensorische Neuropatia atassica sensoriale acuta Neuropatia atáxica sensorial aguda Neuropatía atáxica sensorial aguda hrdo:pat_id_19195 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 203300 614073 neant E70.3 231500 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown HPS con fibrosi polmonare HPS con fibrosis pulmonar HPS mit Lungenfibrose HPS with pulmonary fibrosis SHP avec fibrose pulmonaire Hermansky-Pudlak syndrome with pulmonary fibrosis Hermansky-Pudlak-Syndrom mit pulmonaler Fibrose Sindrome di Hermansky-Pudlak con fibrosi polmonare Syndrome d'Hermansky-Pudlak avec fibrose pulmonaire Síndrome de Hermansky-Pudlak com fibrose pulmonar Síndrome de Hermansky-Pudlak con fibrosis pulmonar hrdo:pat_id_19196 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614072 614074 614075 neant E70.3 231512 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown HPS senza fibrosi polmonare HPS sin fibrosis pulmonar HPS without pulmonary fibrosis SHP sans fibrose pulmonaire Hermansky-Pudlak syndrome without pulmonary fibrosis Hermansky-Pudlak syndrome without pulmonary fibrosis Sindrome di Hermansky-Pudlak senza fibrosi polmonare Syndrome d'Hermansky-Pudlak sans fibrose pulmonaire Síndrome de Hermansky-Pudlak sem fibrose pulmonar Síndrome de Hermansky-Pudlak sin fibrosis pulmonar hrdo:pat_id_19198 614076 neant E70.3 231531 clinical subtype HPS7 HPS7 HPS7 HPS7 HPS7 SHP7 Hermansky-Pudlak syndrome type 7 Hermansky-Pudlak-Syndrom Typ 7 Sindrome di Hermansky-Pudlak, tipo 7 Syndrome d'Hermansky-Pudlak type 7 Síndrome de Hermansky-Pudlak tipo 7 Síndrome de Hermansky-Pudlak tipo 7 hrdo:pat_id_19199 614077 neant E70.3 231537 clinical subtype HPS8 HPS8 HPS8 HPS8 HPS8 SHP8 Hermansky-Pudlak syndrome type 8 Hermansky-Pudlak-Syndrom Typ 8 Sindrome di Hermansky-Pudlak, tipo 8 Syndrome d'Hermansky-Pudlak type 8 Síndrome de Hermansky-Pudlak tipo 8 Síndrome de Hermansky-Pudlak tipo 8 hrdo:pat_id_192 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 162500 10069382 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Neuropathy%5Btw%5D+hereditary%5Btw%5D+pressure+palsies%5Btw%5D G60.0 640 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown HNPP HNPP HNPP Microdeletion 17p12 Microdelezione 17p12 Microdélétion 17p12 Mikrodeletion 17p12 NHPP Neuropathie tomaculaire Neuropatia tomaculare Neuropatia tumacolosa Neuropatía tomacular Polineuropatia familiar recorrente Tomaculous neuropathy Tomakulöse Neuropathie Hereditary neuropathy with liability to pressure palsies Neuropathie héréditaire avec hypersensibilité à la pression Neuropathie, hereditäre, mit Neigung zu Drucklähmungen Neuropatia ereditaria con paralisi da pressione Neuropatia hereditária com suscetibilidade a paralisia por pressão Neuropatía hereditaria con hipersensibilidad a la presión hrdo:pat_id_19200 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 226440 neant Q81.8 231556 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Epidermólisis bullosa juntural localizada de aparición tardía - déficit intelectual Epidermolisi bollosa giunzionale localizzata a esordio tardivo - ritardo mentale Epidermolyse bulleuse jonctionnelle localisée à début tardif - déficit intellectuel Epidermolysis bullosa, junktionale lokalisierte spät-einsetzende - Intelligenzminderung Epidermólise bolhosa juncional localizada, de início tardio - atraso mental Late-onset localized junctional epidermolysis bullosa - intellectual deficit Late-onset localized junctional epidermolysis bullosa - intellectual deficit hrdo:pat_id_19201 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 131750 neant Q81.2 231568 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Autosomal dominant dystrophic epidermolysis bullosa, Pasini and Cockayne-Touraine types DDEB, Pasini and Cockayne-Touraine types DDEB, generalized DDEB, tipi Pasini e Cockayne-Touraine DDEB-gen EBDD généralisée EBDD types Cockayne-Touraine et Pasini Epidermolyse bulleuse dystrophique autosomique dominante types Pasini et Cockayne-Touraine Epidermólisis bullosa distrófica, autosómica dominante, tipos Pasini y Cockayne -Touraine Epidermolisi bollosa distrofica autosomica dominante, tipi Pasini e Cockayne-Touraine Epidermolyse bulleuse dystrophique dominante généralisée Epidermolysis bullosa, dystrophe, autosomal-dominante, Pasini und Cockayne-Touraine Typen Epidermólise bolhosa distrófica autossómica dominante, tipos Pasini e Cockayne-Touraine Epidermólisis ampollosa distrófica autosómica dominante tipos Pasini y Cockayne-Touraine Generalized dominant dystrophic epidermolysis bullosa hrdo:pat_id_19202 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 231573 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Congenital erosive and vesicular dermatosis Dermatose erosiva e vesicular, congénita Dermatose érosive et vésiculaire congénitale Dermatose, erosive und vesikuläre, kongenital Dermatosi vescicolare ed erosiva congenita Dermatosis vesicular y erosiva congénita hrdo:pat_id_19203 Variabel Variabile Variable Variable Variable Variable Variável 231580 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown PUAH PUAH PUAH PUAH Hiperplasia da suprarrenal unilateral primária Hiperplasia suprarrenal unilateral primaria Hyperplasie surrénalienne unilatérale primitive Iperplasia surrenalica unilaterale primitiva Nebennierenhyperplasie, primäre unilaterale Primary unilateral adrenal hyperplasia hrdo:pat_id_19205 Variabel Variabile Variable Variable Variable Variable Variável 231625 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown APAC pura APAC puro Carcinoma cortico-surrenalico producente aldosterone puro Carcinoma cortico-surrenalico secernente aldosterone puro Carcinoma corticosuprarrenal productor puro de aldosterona Carcinoma corticosuprarrenal secretor puro de aldosterona Corticosurrénalome malin avec excès d'aldostérone Pure APAC Pure aldosterone-producing adrenocortical carcinoma Pure aldosterone-secreting adrenocortical carcinoma Adrenocortical carcinoma with pure aldosterone hypersecretion Adrenokortikales Karzinom mit isolierter Aldosteron-Hypersekretion Carcinoma adrenocortical produtor de aldosterona, puro Carcinoma cortico-surrenalico con ipersecrezione di aldosterone puro Carcinoma corticosuprarrenal con hipersecreción pura de aldosterona Carcinome cortico-surrénalien avec excès d'aldostérone pure hrdo:pat_id_19206 Variabel Variabile Variable Variable Variable Variable Variável 231632 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Extra-adrenal Aldosteron-produzierender Tumor Extra-adrenal aldosterone-producing tumor Tumeur extra-surrénalienne sécrétrice d'aldostérone Tumor extrasuprarrenal productor de aldosterona Tumore extra-surrenalica secernente aldosterone Ectopic aldosterone-producing tumor Tumeur ectopique sécrétrice d'aldostérone Tumor ectópico productor de aldosterona Tumor produtor de aldosterona, ectópico Tumor, ACTH-produzierender ektopischer Tumore secernente aldosterone ectopico hrdo:pat_id_19207 Variabel Variabile Variable Variable Variable Variable Variável 231637 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Forma cirurgicamente corrigível de aldosteronismo primário, rara Hiperaldosteronismo primario raro corregible por cirugía Hyperaldostéronisme primitif rare traitable chirurgicalement Iperaldosteronismo primitivo raro corregibile chirurgicamente Rare surgically correctable form of primary aldosteronism Seltene chirurgisch korrigierbar Formen des primären Hyperaldosteronismus hrdo:pat_id_19208 231641 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes Forma não cirurgicamente corrigível de aldosteronismo primário, rara Hiperaldosteronismo primario raro no corregible por cirugía Hyperaldostéronisme primitif rare non traitable chirurgicalement Iperaldosteronismo primitivo raro non corregibile chirugicamente Rare non surgically correctable form of primary aldosteronism Seltene chirurgisch nicht korrigierbar Formen des primären Hyperaldosteronismus hrdo:pat_id_19209 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 262400 neant E23.0 231662 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Congenital IGHD type IA Congenital isolated GH deficiency type IA Congenital isolated growth hormone deficiency type IA Deficit isolato congenito dell'ormone della crescita, tipo 1A Deficit isolato congenito di GH, tipo 1A Déficit congénital isolé en STH type IA Déficit congénital isolé en hormone de croissance type IA Déficit congénito aislado de GH tipo IA Déficit congénito aislado de hormona de crecimiento tipo IA GH-Mangel, isolierter kongenitaler, Typ IA IGHD congenito, tipo 1A IGHD congénito tipo IA IGHD, kongenitaler, Typ IA Wachstumshormonmangel, isolierter kongenitaler, Typ IA Deficit isolato dell'ormone della crescita, tipo 1A Deficiência isolada da hormona de crescimento tipo IA Déficit aislado de hormona de crecimiento tipo IA Insuffisance somatotrope isolée type IA Isolated growth hormone deficiency type IA Wachstumshormonmangel, isolierter, Typ IA hrdo:pat_id_19210 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 612781 neant E23.0 231671 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Congenital IGHD type IB Congenital isolated GH deficiency type IB Congenital isolated growth hormone deficiency type IB Deficit isolato congenito dell'ormone della crescita, tipo 1B Deficit isolato congenito di GH, tipo 1B Déficit congénital isolé en STH type IB Déficit congénital isolé en hormone de croissance type IB Déficit congénito aislado de GH tipo IB Déficit congénito aislado de hormona de crecimiento tipo IB GH-Mangel, isolierter kongenitaler, Typ IB IGHD congenito, tipo 1B IGHD congénito tipo IB IGHD, kongenitaler, Typ IB Wachstumshormonmangel, isolierter kongenitaler, Typ IB Deficit isolato dell'ormone della crescita, tipo 1B Deficiência isolada da hormona de crescimento tipo IB Déficit aislado de hormona de crecimiento tipo IB Insuffisance somatotrope isolée type IB Isolated growth hormone deficiency type IB Wachstumshormonmangel, isolierter, Typ IB hrdo:pat_id_19211 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 173100 neant E23.0 231679 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype Congenital IGHD type II Congenital isolated GH deficiency type II Congenital isolated growth hormone deficiency type II Deficit isolato congenito dell'ormone della crescita, tipo 2 Deficit isolato congenito di GH, tipo 2 Déficit congénital isolé en STH type II Déficit congénital isolé en hormone de croissance type II Déficit congénito aislado de GH tipo II Déficit congénito aislado de hormona de crecimiento tipo II GH-Mangel, isolierter kongenitaler, Typ II IGHD congenito, tipo 2 IGHD congénito tipo II IGHD, kongenitaler, Typ II Wachstumshormonmangel, isolierter kongenitaler, Typ II Deficit isolato dell'ormone della crescita, tipo 2 Deficiência isolada da hormona de crescimento tipo II Déficit aislado de hormona de crecimiento tipo II Insuffisance somatotrope isolée type II Isolated growth hormone deficiency type II Wachstumshormonmangel, isolierter, Typ II hrdo:pat_id_19212 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300123 307200 neant E23.0 231692 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive clinical subtype Congenital IGHD type III Congenital isolated GH deficiency type III Congenital isolated growth hormone deficiency type III Deficit isolato congenito dell'ormone della crescita, tipo 3 Deficit isolato congenito di GH, tipo 3 Deficit isolato legato all'X dell'ormone della crescita Déficit aislado de hormona de crecimiento ligado al X Déficit congénital isolé en STH type III Déficit congénital isolé en hormone de croissance lié à l'X Déficit congénital isolé en hormone de croissance type III Déficit congénito aislado de GH tipo III Déficit congénito aislado de hormona de crecimiento tipo III GH-Mangel, isolierter kongenitaler, Typ III IGHD congenito, tipo 3 IGHD congénito tipo III IGHD legato all'X IGHD ligado al X IGHD, X-chromosomal IGHD, kongenitaler, Typ III Insuffisance somatotrope isolée liée à l'X Wachstumshormonmangel, isolierter kongenitaler, Typ III Wachstumshormonmangel, isolierter, X-chromosomaler X-linked IGHD X-linked isolated growth hormone deficiency Deficit isolato dell'ormone della crescita, tipo 3 Deficiência isolada da hormona de crescimento tipo III Déficit aislado de hormona de crecimiento tipo III Insuffisance somatotrope isolée type III Isolated growth hormone deficiency type III Wachstumshormonmangel, isolierter, Typ III hrdo:pat_id_19213 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 221750 neant 231720 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficit combinato non acquisito dell'ormone ipofisario con anomalie della colonna vertebrale Deficiência combinada não-adquirida da hormona da pituitária com anomalias da coluna Déficit de hormonas hipofisarias combinado no adquirido con anomalías de la columna vertebral Hypophysenhormon-Mangel, nicht erworbener kombinierter, mit spinalen Fehlbildungen Insuffisance hypophysaire multiple non acquise avec anomalies de la colonne Nonacquired combined pituitary hormone deficiency with spine abnormalities hrdo:pat_id_19214 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q15.8 231736 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 MPCC-Syndrom MPPC syndrome Sindrome MPCC Syndrome MPPC Síndrome MPCC Microcornea - megalolenticono posteriore - persistenza del tessuto vascolare fetale - coloboma Microcornea - posterior megalolenticonus - persistent fetal vasculature - coloboma Microcornée - mégalolenticône postérieur - persistance du tissu vasculaire foetal - colobome Microcórnea - megalolenticonus posterior - persistencia de la vasculatura fetal - coloboma Microcórnea - megalolenticonus posterior - vasculatura fetal persistente - coloboma Mikrokornea - Lenticonus posterior - persistierender primärer Vitreus - Kolobom hrdo:pat_id_19215 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 231742 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate group of phenomes <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Epibulbar lipodermoid - preauricular appendage - polythelia Epibulbäre Lipodermoid - präaurikuläre Anhängsel - Polythelie Lipodermoide epibulbar- apéndice preauricular - politelia Lipodermoide epibulbare - appendice preauricolare - politelia Lipodermoïde du globe oculaire - excroissance préauriculaire - polythélie Lipodermóide epibulbar - apendice pré-auricular - politelia hrdo:pat_id_19216 231957 group of phenomes Disease associated with a genetic susceptibility Disease associated with a genetic susceptibility Disease associated with a genetic susceptibility Doença associada a suscetibilidade genética Krankheit mit assoziierter genetischer Prädisposition Maladie à prédisposition génétique hrdo:pat_id_19217 232035 group of phenomes Embriofetopatia infeciosa Embriofetopatia infettiva Embriofetopatía infecciosa Embryofetopathie, infektiöse Embryofoetopathie infectieuse Infectious embryofetopathy hrdo:pat_id_19226 neant D56.0 232288 group of phenomes Alpha-Thalassämie-verwandte Krankheiten Alpha-thalassemia-related diseases Doenças relacionadas com alfa-talassemia Enfermedades asociadas a una alfa-talasemia Maladies associées à une alpha-thalassémie Malattie associate ad alfa talassemia hrdo:pat_id_1923 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 114100 213600 606656 614540 615007 neant G23.8 1980 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 BSPDC BSPDC BSPDC Basalganglien-Kalzifizierung, idiopathische Calcification idiopathique des ganglions de la base Calcificazione idiopatica dei gangli basali Ferrocalcinose cerebro-vascular Ferrocalcinose cérébrovasculaire Ferrocalcinosi cerebrovascolare Ferrocalcinosis cerebro vascular Ferrokalzinose, zerebrovaskuläre Idiopathic basal ganglia calcification Bilateral striopallidodentate calcinosis Calcinose striopallidodentée bilatérale Calcinosi striopallidodentata bilaterale Calcinosis bilateral estriato-pálido-dentada Striopallidodentate Kalzinose, bilaterale Síndrome de Fahr hrdo:pat_id_19238 233655 group of phenomes Doença vascular genética rara Enfermedad vascular genética rara Gefäßkrankheit, seltene, genetisch bedingte Maladie vasculaire génétique rare Malattia vascolare genetica rara Rare genetic vascular disease hrdo:pat_id_1924 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 153640 C537078 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=%22Fechtner+syndrome%22+OR+((thrombocytopenia+OR+macrothrombocytopenia)+(inclusion*%5Bti%5D+OR+MYH9)) D69.4 1984 236422008 C0403445 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Alport syndrome with leukocyte inclusions and macrothrombocytopenia Alport-Syndrom mit Leukozyteneinschlüssen und Makrothrombozytopenie Sindrome di Alport con inclusioni leucocitarie e macrotrombocitopenia Syndrome d'Alport avec inclusions leucocytaires et macrothrombocytopénie Síndrome de Alport com inclusões leucocitárias e macrotrombocitopenia Fechtner syndrome Fechtner-Syndrom Sindrome di Fechtner Syndrome de Fechtner Síndrome Fechtner Síndrome de Fechtner hrdo:pat_id_19248 235832 group of phenomes Congenital vascular bone syndrome Gefäßknochensyndrom, kongenitales Sindrome vascolare ossea congenita Syndrome vasculaire osseux congénital Síndrome de osso vascular, congénito Síndrome óseo vascular congénito hrdo:pat_id_19249 235835 group of phenomes Congenital vascular bone syndrome with limb overgrowth Gefäßknochensyndrom, kongenitales, mit übermässigem Wachstum der Extremitäten Sindrome vascolare ossea congenita con iperaccrescimento degli arti Syndrome vasculaire osseux congénital avec croissance excessive d'un membre Síndrome congénito de osso vascular com sobrecrescimento do membro Síndrome óseo vascular congénito con crecimiento excesivo de las extremidades hrdo:pat_id_19250 235838 group of phenomes Congenital vascular bone syndrome with limb shortening Gefäßknochensyndrom, kongenitales, mit vermindertem Wachstum der Extremitäten Sindrome vascolare ossea congenita con accorciamento degli arti Syndrome vasculaire osseux congénital avec raccourcissement d'un membre Síndrome congénito de osso vascular com encurtamento dos membros Síndrome óseo vascular congénito con acortamiento de las extremidades hrdo:pat_id_19251 neant E26.0 235936 group of phenomes Familial hyperaldosteronism Hiperaldosteronismo familiar Hiperaldosteronismo familiar Hyperaldosteronismus, familiärer Hyperaldostéronisme familial Iperaldosteronismo familiare hrdo:pat_id_1926 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 228250 neant Q74.8 1986 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Agenesia tibial com duplicação femoral Aplasia tibial, ectrodactilia e bifurcação femoral Bifid femur - monodactylous ectrodactyly Femore bifido - ectrodattilia - monodattilia Femur bífido - ectrodactilia monodactilia Femur, gegabelter - Ektrodaktylie - Monodaktylie Fémur bifide - ectrodactylie monodactyle Fémur bífido com ectrodactilia Fémur, bifido unilateral, com ectrodactilia monodactilosa Complejo de Gollop-Wolfgang Complesso di Gollop-Wolfgang Complexe de Gollop-Wolfgang Complexo Gollop-Wolfgang Gollop-Wolfgang complex Gollop-Wolfgang-Komplex hrdo:pat_id_19260 neant E85.0 238269 disease Amiloidosi da apolipoproteina AII Amiloidosi renale ereditaria da variante dell'apopoliproteina AII Amiloidosis de la apolipoproteína All Amiloidosis renal hereditaria debido a una variante de la apolipoproteína All Amyloid-Nephropathie, familiäre, durch Apolipoprotein AII-Variante Amylose de l'apolipoprotéine AII Amylose rénale héréditaire due à un variant de l'apolipoprotéine AII Apolipoprotein AII amyloidosis Apolipoprotein AII-Amyloidose Familial amyloid nephropathy due to Apolipoprotein AII variant Hereditary amyloid nephropathy due to Apolipoprotein AII variant Hereditary renal amyloidosis due to Apolipoprotein AII variant Nefropatia amiloide ereditaria da apolipoproteina variante ALL Nefropatia amiloide familiare da apolipoprotiena variante AII Nefropatía amiloide familiar debido a una variante de la apolipoproteína All Nefropatía amiloide hereditaria debido a una variante de la apolipoproteína All Néphropathie amyloïde familiale due à un variant de l'apolipoprotéine AII Néphropathie amyloïde héréditaire due à un variant de l'apolipoprotéine AII Amiloidose renal familiar devido a apolipoproteínas, todas as variantes Amiloidosi renale familiare da variante dell'apolipoproteina AII Amiloidosis renal familiar debido a una variante de la apolipoproteína All Amyloidose, familiäre renale, mit Apolipoprotein AII-Variante Amylose rénale familiale due à un variant de l'apolipoprotéine AII Familial renal amyloidosis due to Apolipoprotein AII variant hrdo:pat_id_19261 238305 disease Infundibulo-neuro-hipofisite Infundibulo-neurohypophysitis Infundibulo-neuroipofisite Infundibuloneurohipofisitis Infundibuloneurohypophysitis Neuro-hypophysite infundibulaire hrdo:pat_id_19262 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300816 neant 238329 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Encefalomiopatia mitocondriale da COXPD6 Encefalomiopatia mitocondriale da deficit combinato della fosforilazione ossidativa 6 Encefalomiopatía mitocondrial debido a COXPD6 Encefalomiopatía mitocondrial debido a un déficit combinado de la fosforilación oxidativa de tipo 6 Encéphalomyopathie mitochondriale due à COXPD6 Encéphalomyopathie mitochondriale due à un déficit combiné de la phosphorylation oxydative de type 6 Enzephalomyopathie, mitochondriale, durch COXPD6 Enzephalomyopathie, mitochondriale, kombinierten Defekt der oxidativen Phosphorylierung Typ 6 Mitochondrial encephalomyopathy due to COXPD6 Mitochondrial encephalomyopathy due to combined oxidative phosphorylation deficiency 6 Encefalomiopatia mitocondrial grave ligada ao X Encefalomiopatia mitocondriale grave legata all'X Encefalomiopatía mitocondrial grave ligada al X Encéphalomyopathie mitochondriale sévère liée à l'X Enzephalomyopathie, mitochondriale, schwere, X-chromosomale Severe X-linked mitochondrial encephalomyopathy hrdo:pat_id_19263 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 608636 neant Q92.3 238446 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 15q11-q13 Duplikationssyndrom 15q11-q13 duplication syndrome 15q11-q13 microduplication syndrome 15q11q13 duplication syndrome Dup(15)(q11q13) Dup(15)(q11q13) Dup(15)(q11q13) Dup(15)(q11q13) Dup(15)(q11q13) Sindrome da duplicazione 15q11-q13 Sindrome da duplicazione 15q11q13 Sindrome da microduplicazione 15q11-q13 Syndrome de duplication 15q11-q13 Syndrome de duplication 15q11q13 Syndrome de microduplication 15q11-q13 Síndrome de duplicación 15q11-q13 Síndrome de duplicación 15q11q13 Síndrome de microduplicación 15q11-q13 Trisomia 15q11-q13 Trisomia 15q11q13 Trisomie 15q11-q13 Trisomie 15q11-q13 Trisomie 15q11q13 Trisomy 15q11-q13 Trisomy 15q11q13 Trisomía 15q11-q13 Trisomía 15q11q13 15q11q13 microduplication syndrome Mikroduplikationssyndrom 15q11q13 Sindrome da microduplicazione 15q11q13 Syndrome de microduplication 15q11q13 Síndrome da microduplicação 15q11-q13 Síndrome de microduplicación 15q11q13 hrdo:pat_id_19264 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613135 neant 238455 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Distonia-parkinsonismo infantil Distonía-parkinsonismo infantil Distornia-parkinsonismo infantile Dystonie-Parkinson-Syndrom, infantiles Dystonie-parkinsonisme infantile Infantile dystonia-parkinsonism hrdo:pat_id_19265 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 603585 neant E77.8 238459 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anomalie congénitale de la glycosylation type 2f Anomalie congénitale de la glycosylation type IIf CDG (Congenital Disorder of Glycosylation) Typ IIf CDG syndrome type IIf CDG-IIf CDG-IIf CDG-IIf CDG-IIf CDG2F CDG2F CDG2F CDG2F CDG2F CMP-sialic acid transporter deficiency Carbohydrate deficient glycoprotein syndrome type IIf Congenital disorder of glycosylation type 2f Congenital disorder of glycosylation type IIf Deficit del trasportatore dell'acido CMP-sialico Disturbo congenito della glicosilazione, tipo 2f Disturbo congenito della glicosilazione, tipo IIf Déficit del transportador del CMP-ácido siálico Déficit en CMP-sialic acid transporteur Kohlenhydrat-defizientes Glykoprotein-Syndrom IIf Kongenitaler Defekt der Glycoproteinbiosynthese Typ 2f Sindrome CDG, tipo IIf Sindrome delle glicoproteine carenti in carboidrati, tipo IIf Syndrome CDG type IIf Syndrome des glycoprotéines déficientes en hydrates de carbone type IIf Síndrome CDG tipo IIf Síndrome de glicoproteínas deficientes en carbohidratos tipo IIf Trastorno congénito de la glicosilación tipo 2f Trastorno congénito de la glicosilación tipo IIf CDG-Syndrom Typ IIf SLC35A1-CDG syndrome Sindrome SLC35A1-CDG Syndrome SLC35A1-CDG Síndrome SLC35A1-CDG Síndrome de CDG tipo IIf hrdo:pat_id_19266 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 129490 224900 300291 305100 612132 614940 614941 neant Q82.4 238468 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Anhidrotic ectodermal dysplasia DEH Displasia ectodérmica anhidrótica Dysplasie ectodermique anhidrotique HED HED HED Displasia ectodermica ipoidrotica Displasia ectodérmica hipohidrótica Displasia ectodérmica hipohidrótica Dysplasie ectodermique hypohidrotique Dysplasie, ektodermale, hypohidrotische Hypohidrotic ectodermal dysplasia hrdo:pat_id_19267 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 607748 neant 238475 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 FHC FHC FHC Hereditary hypercholanemia Hipercolanemia hereditaria Hypercholanämie, hereditäre Hypercholanémie héréditaire Ipercolanemia ereditaria Familial hypercholanemia Hipercolanemia familiar Hipercolanemia familiar Hypercholanämie, familiäre Hypercholanémie familiale Ipercolanemia familiare hrdo:pat_id_19269 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 613011 neant 238505 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficiencia de ITK Deficiencia de quinasa de células T inducible por IL-2 Deficit di IL-2-inducibile T-cellule chinasi Deficit di ITK Déficit de ITK Déficit de quinasa de células T inducible por IL-2 Déficit en IL-2-inducible T-cell kinase Déficit en ITK IL-2-inducible T-cell kinase deficiency IL-2-induzierbarer T-Zell-Kinase-Mangel ITK deficiency ITK-Mangel Autosomal recessive lymphoproliferative disease Doença linfoproliferativa autossómica recessiva Enfermedad linfoproliferativa autosómica recesiva Lymphoproliferative Krankheit, autosmal-rezessive Maladie lymphoproliférative autosomique récessive Malattia linfoproliferativa autosomica recessiva hrdo:pat_id_1927 neant Q72.4 1987 malformation syndrome Agénésie/hypoplasie fémorale Congenital short femur Femoral intercalary meromelia Femore corto congenito Femur, kurzer kongenitaler Fémur corto congénito Fémur court congénital Meromelia intercalar femoral Meromelia intercalare femorale Meromelie, femurale interkalare Méromélie intercalaire fémorale Agenesia/hipoplasia femoral Agenesia/ipoplasia femorale Agénésie/hypoplasie du fémur Femoral agenesis/hypoplasia Femuragenesie/-hypoplasie Fémur curto congénito hrdo:pat_id_19270 238510 group of phenomes Doença linfoproliferativa Enfermedad linfoproliferativa con inmunodeficiencia Lymphoproliferative Krankheit mit Immundefekt Lymphoproliferative syndrome Malattia linfoproliferativa con immunodeficienza Syndrome lymphoprolifératif hrdo:pat_id_19271 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 238517 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo group of phenomes <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hipotonia - cistinúria tipo 1 Hipotonía - cistinuria tipo 1 Hypotonia - cystinuria type 1 Hypotonie - Cystinurie Typ 1 Hypotonie - cystinurie type 1 Ipotonia-cistinuria, tipo 1 hrdo:pat_id_19272 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 606407 neant 238523 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atypical HCS HCS atipica HCS atypique HCS atípico HCS, atypisch Atypical hypotonia - cystinuria syndrome Atypische Hypotonie - Cystinurie-Syndrom Hipotonia atípica - síndrome de cistinúria Sindrome ipotonia atipica-cistinuria Syndrome d'hypotonie-cystinurie atypique Síndrome de hipotonía-cistinuria atípico hrdo:pat_id_19273 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant D75.1 238536 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Congenital secondary erythrocytosis Eritrocitosi secondaria congenita Eritrocitosis secundaria congénita Erythrocytose secondaire congénitale Erythrozytose, sekundäre, kongenitale Form Congenital secondary polycythemia Policitemia secondaria congenita Policitemia secundaria congénita Policitemia secundária congénita Polycythémie secondaire congénitale Polyzythämie, sekundäre, kongenitale Form hrdo:pat_id_19275 Variabel Variabile Variable Variable Variable Variable Variável neant D75.1 238547 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Acquired secondary erythrocytosis Eritrocitosi secondaria acquisita Eritrocitosis secundaria adquirida Erythrocytose secondaire acquise Erythrozytose, sekundäre, erworbene Form Acquired secondary polycythemia Policitemia secondaria acquisita Policitemia secundaria adquirida Policitemia secundária adquirida Polycythémie secondaire acquise Polyzythämie, sekundäre, erworbene Form hrdo:pat_id_19276 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 263400 neant D75.1 238557 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Chuvash polycythemia Chuvash-Polyzythämie Erythrocytose tchouvache Policitemia asociada al síndrome de Von Hippel-Lindau Policitemia correlata a Von Hippel-Lindau Policitemia de Chuvash Policitemia di Chuvash Polycythémie associée au facteur VHL Polycythémie de Tchouvachie Polycythémie tchouvache Polyglobulie de Tchouvachie Polyglobulie tchouvache Polyzythämie, von Hippel-Lindau-abhängige Von Hippel-Lindau-dependent polycythemia Chuvash erythrocytosis Chuvash-Erythrozytose Eritrocitose de Chuvash Eritrocitosi di Chuvash Eritrocitosis de Chuvash Erythrocytose de Tchouvachie hrdo:pat_id_19277 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 612567 613148 neant K52.8 238569 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Autosomal recessive early-onset IBD IBD (inflammatory bowel disease), früh-beginnende, autosomal-rezessive IBD autosomica recessiva a esordio precoce Autosomal recessive early-onset inflammatory bowel disease Darmerkrankung, chronisch-entzündliche früh-beginnende, autosomal-rezessive Doença intestinal inflamatória de início precoce, autossómica recessiva Enfermedad inflamatoria precoz del intestino autosómica recesiva Maladie inflammatoire précoce de l'intestin autosomique récessive Malattia intestinale infiammatoria, autosomica recessiva, a esordio precoce hrdo:pat_id_19278 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613618 neant Q66.8 238578 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch etiological subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hereditary clubfoot due to 17q23.1-q23.2 microduplication Pie zambo hereditario debido a una microduplicación 17q23.1-q23.2 Pied bot héréditaire dû à une microduplication 17q23.1-q23.2 Piede torto ereditario da microduplicazione 17q23.1-q23.2 Familial clubfoot due to 17q23.1q23.2 microduplication Klumpfuß, familiärer isolierter, durch Mikroduplikationssyndrom 17q23.1-q23.2 Pie zambo familiar debido a una microduplicación 17q23.1q23.2 Pied bot familial dû à une microduplication 17q23.1q23.2 Piede torto familiare da microduplicazione 17q23.1-q23.2 Pé boto isolado familiar por síndrome de microduplicação do 17q23.1-q23.2 hrdo:pat_id_19279 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 233910 261630 261640 264070 neant E70.1 238583 68528007 C0751436 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Hiperfenilalaninemia debida al déficit de BH4 Hiperfenilalaninemia debida al déficit de tetrahidrobiopterina Hiperfenilalaninemia no fenilcetonúrica Hyperphenylalaninemia due to BH4 deficiency Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Hyperphenylalaninämie durch BH4-Mangel Hyperphenylalaninämie durch Tetrahydrobiopterin-Mangel Hyperphenylalaninämie, nicht-phenylketonurische Hyperphénylalaninémie due au déficit en BH4 Hyperphénylalaninémie due au déficit en tétrahydrobioptérine Hyperphénylalaninémie non phénylcétonurique Iperfenilalaninemia da deficit di BH4 Iperfenilalaninemia da deficit di tetraidrobiopterina Iperfenilalaninemia non fenilchetonurica Nonphenylketonuric hyperphenylalaninemia Hiperfenilalaninemia Hiperfenilalaninemia Hyperphenylalaninemia Hyperphenylalaninämie Hyperphénylalaninémie Iperfenilalaninemia hrdo:pat_id_1928 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 134780 C537916 neant Q87.8 1988 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome FFS FFS FFS FFS FHUFS FHUFS FHUFS FHUFS FHUFS Femoral hypoplasia - unusual facies syndrome Femurhypoplasie - Gesichtsdysmorphie SFF Sindrome ipoplasia femorale-facies caratteristica Syndrome d'hypoplasie du fémur - faciès particulier Síndrome hipoplasia femoral- facies inusual Femoral-facial syndrome Femoral-faziales Syndrom Sindrome femoro-facciale Syndrome fémoro-facial Síndrome facio-femural Síndrome femoral-facial hrdo:pat_id_19280 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 238593 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Isolated mesenteric lipodystrophy Lipodistrofia mesenterica isolata Lipodistrofia mesentérica aislada Lipodystrophie isolée du mésentère Lipodystrophie, isolierte mesenterische Lipogranulom, mesenterisches Lipogranuloma mesenterico Lipogranuloma mesentérico Lipogranulome mésentérique Lipomatous mesenteritis Liposclerotic mesenteritis Mesenteric lipogranuloma Mesenteric panniculitis Mesenterite lipomatosa Mesenterite liposclerotica Mesenteritis lipoesclerótica Mesenteritis lipomatosa Mesenteritis, lipomatöse Mesenteritis, liposklerotische Mésentérite lipomateuse Mésentérite liposclérotique Paniculitis mesentérica Panniculite mesenterica Panniculite mésentérique Pannikulitis, mesenterische Mesenterite esclerosante Mesenterite sclerosante Mesenteritis esclerosante Mesenteritis, sklerosierende Mésentérite sclérosante Sclerosing mesenteritis hrdo:pat_id_19281 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta C536418 238606 C0878578 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 POT POT POT POT TOP TOP Primary orthostatic tremor Temblor ortostático primario Tremblement orthostatique primaire Tremor ortostático primário Tremor, orthostatischer primärer Tremore ortostatico primitivo hrdo:pat_id_19282 neant Q87.3 238613 etiological subtype Beckwith-Wiedemann syndrome due to NSD1 mutation Beckwith-Wiedemann-Syndrom durch NSD1-Genmutation Sindrome di Beckwith-Wiedemann da mutazioni di NSD1 Syndrome de Beckwith-Wiedemann dû à une mutation de NSD1 Síndrome de Beckwith-Wiedemann debido a una mutación de NSD1 Síndrome de Beckwith-Wiedemann por mutação no gene NSD1 hrdo:pat_id_19283 104300 104310 neant 238616 disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Alzheimer disease Alzheimer-Krankheit Doença de Alzheimer Enfermedad de Alzheimer Maladie d'Alzheimer Malattia di Alzheimer hrdo:pat_id_19285 238621 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Anastomosi ileoanale con reservoir associata a incontinenza fecale Ileal pouch anal anastomosis related faecal incontinence Incontinência fecal relacionada com anastomose anal da bolsa ilíaca Stuhlinkontinenz bei Ileum-pouch-anale Anastomose Traitement de l'incontinence fécale liée à une anastomose iléo-anale avec poche Tratamiento de la incontinencia fecal ligada a una anastomosis íleo-anal con bolsa hrdo:pat_id_19286 243200 neant 238624 disease Benign intracranial hypertension HII HII Hipertensión intracraneal benigna Hypertension intracrânienne bénigne IIH IIH IIH IIH IIH Interkraniale Hypertension, benigne Ipertensione intracranica benigna Pseudotumeur cérébrale Pseudotumor cerebri Pseudotumor cerebri Pseudotumor cerebri Pseudotumor cerebri Pseudotumor cerebri Hipertensión intracraneal idiopática Hipertensão intracraniana idiopática Hypertension intracrânienne idiopathique Hypertension, idiopathische interkraniale Idiopathic intracranial hypertension Ipertensione intracranica idiopatica hrdo:pat_id_19287 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q62.7 238637 253904001 C0431752 disease Megaureter-Megazystis-Syndrom Megaureter-megacystis syndrome Sindrome megauretere-megacisti Syndrome mégauretère-mégavéssie Síndrome megauréter-megavejiga Megacystis-megaureter syndrome Megazystis-Megaureter-Syndrom Sindrome megacisti-megauretere Syndrome mégavéssie-mégauretère Síndrome megabexiga-megaureter Síndrome megavejiga-megauréter hrdo:pat_id_19288 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant Q62.2 238642 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Megaureter primário, forma de apresentação no adulto Megaureter, primärer, adulte Form Megauretere primitivo, forma a esordio nell'adulto Megauréter primitivo del adulto Méga-uretère primitif de l'adulte Primary megaureter, adult-onset form hrdo:pat_id_19289 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q62.2 238646 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Congenital primary megaureter, obstructed form Megaureter primário congénito, forma com obstrução Megaureter, kongenitaler primärer, obstruktiver Form Megauretere primitivo congenito, forma ostruttiva Megauréter primitivo congénito obstructivo Méga-uretère primitif obstructif congénital hrdo:pat_id_19290 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q62.2 238650 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Congenital primary megaureter, refluxing form Megaureter primário congénito, forma com refluxo Megaureter, kongenitaler primärer, refluxierende Form Megauretere primitivo congenito con reflusso Megauréter primitivo congénito con reflujo Méga-uretère primitif congénital avec reflux hrdo:pat_id_19291 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q62.2 238654 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Congenital primary megaureter, nonrefluxing and unobstructed form Megaureter primário congénito, forma sem refluxo e sem obstrução Megaureter, kongenitaler primärer, nicht refluxierende und nicht obstruktive Formen Megauretere primitivo congenito, forma non ostruttiva e senza reflusso Megauréter primitivo congénito no obstructivo sin reflujo Méga-uretère primitif congénital nonobstructif sans reflux hrdo:pat_id_19292 neant E23.0 238666 group of phenomes Hipogonadismo hipogonadotrópico congénito aislado Hipogonadismo hipogonadotrópico congénito isolado Hypogonadisme hypogonadotrope congénital isolé Hypogonadotroper Hypogonadismus, isolierter kongenitaler Ipogonadismo ipogonadotropo congenito isolato Isolated congenital hypogonadotropic hypogonadism hrdo:pat_id_19293 Variabel Variabile Variable Variable Variable Variable Variável 275120 neant 238670 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficit isolato del fattore di rilascio della tireotropina Deficit isolato del fattore di rilascio di TSH Deficit isolato di TRF Deficit isolato di TRH Deficit isolato di protirelina Deficit isolato di protireoliberina Deficit isolato di tireoliberina Déficit aislado de TRF Déficit aislado de TRH Déficit aislado de factor liberador de TSH Déficit aislado de factor liberador de tirotropina Déficit aislado de pro-tiroliberina Déficit aislado de protirelina Déficit aislado de tiroliberina Déficit isolé en TRF Déficit isolé en TRH Déficit isolé en facteur de libération de la TSH Déficit isolé en prothyrolibérine Déficit isolé en protiréline Déficit isolé en thyrolibérine Isolated TRF deficiency Isolated TRH deficiency Isolated TSH-releasing factor deficiency Isolated prothyroliberin deficiency Isolated protirelin deficiency Isolated thyroliberin deficiency Isolated thyrotropin-releasing factor deficiency Prothyroliberin-Mangel, isolierter Protirelin-Mangel, isolierter TRF-Mangel, isolierter TRH-Mangel, isolierter Thyroliberin-Mangel, isolierter Deficit isolato dell'ormone di rilascio della tireotropina Deficiência da hormona libertadora de tireotropina Déficit aislado de hormona liberadora de tirotropina Déficit isolé en hormone de libération de la thyrotropine Isolated thyrotropin-releasing hormone deficiency Thyrotropin-Releasing-Hormon (TRH)-Mangel, isolierter hrdo:pat_id_19294 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 238688 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Esposizione neonatale allo iodio Exposición neonatal al yodo Exposition néonatale à l'iode Exposição neonatal a iodo Neonatal iodine exposure Neonatale Jodexposition hrdo:pat_id_19295 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 238691 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Congenital hepatic hemangioma Emangioma congenito del fegato Hemangioma congénito del hígado Hämangiom, hepatisches, kongenitales Hémangiome congénital du foie Congenital liver hemangioma Emangioma epatico congenito Hemangioma hepático congénito Hemangioma hepático congénito Hémangiome hépatique congénital Leberhämangiom, kongenitales hrdo:pat_id_19296 238696 group of phenomes Hipotiroidimo congénito transitorio por causa materna Hipotiroidismo transitório congénito por fator materno Hypothyreose, kongenitale transiente, durch maternalen Faktor Hypothyroïdie congénital transitoire de cause maternelle Ipotiroidismo congenito transitorio di origine materna Transient congenital hypothyroidism due to maternal factor hrdo:pat_id_19297 238699 group of phenomes Hipotiroidismo congénito transitorio debido a un factor neonatal Hipotiroidismo transitório congénito por fator neonatal Hypothyreose, kongenitale transiente, durch neonatalen Faktor Hypothyroïdie congénital transitoire de cause néonatale Ipotiroidismo congenito transitorio di origine neonatale Transient congenital hypothyroidism due to neonatal factor hrdo:pat_id_19298 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 157600 614508 neant 238722 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Familial congenital controlateral synkinesia Hereditary congenital controlateral synkinesia Hereditary congenital mirror movements Isolated congenital controlateral synkinesia Isolated congenital mirror movements Kontralaterale Synkinesie, isolierte kongenitale Mouvements en miroir congénitaux héréditaires Mouvements en miroir congénitaux isolées Movimenti a specchio congeniti ereditari Movimenti a specchio congeniti isolati Movimientos en espejo congénitos aislados Movimientos en espejo congénitos hereditarios Sincinesia contralateral congénita aislada Sincinesia contralateral congénita familiar Sincinesia contralateral congénita hereditaria Sincinesia controlaterale congenita ereditaria Sincinesia controlaterale congenita familiare Sincinesia controlaterale congenita isolata Spiegelbewegungen, isolierte kongenitale Syncinésie controlatérale congénitale familiale Syncinésie controlatérale congénitale héréditaire Syncinésie controlatérale congénitale isolée Synkinesie, kontralaterale, familiäre Familial congenital mirror movements Mouvements en miroir congénitaux familiaux Movimenti a specchio congeniti familiare Movimentos em espelho congénitos familiares Movimientos en espejo congénitos familiares Spiegelbewegungen, familiäre kongenitale hrdo:pat_id_19299 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613689 neant Q87.2 238744 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 MDN syndrome MDN-Syndrom Onycho-digito-mammary-Syndrom Sindrome MDN Sindrome onico-digito-mammaria Syndrome MDN Síndrome MDN onycho-digito-mammary syndrome Mammary-digital-nail syndrome Mammary-digital-nail-Syndrom Sindrome mammella-dita-unghie Syndrome onycho-digito-mammaire Síndrome mamário-digital-ungueal Síndrome onico-digito-mamario hrdo:pat_id_193 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 557000 10062941 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Pearson+syndrome%5Btw%5D+OR+Pearson%27s+syndrome%5Btw%5D+OR+%28Pearson%5Btw%5D+AND+anemia%5Bmh%5D+AND+pancreatic+diseases%5Bmh%5D%29 D64.0 699 237985009 Esporádica Esporádico Herencia mitocondrial Hérédité mitochondriale Mitochondrial inheritance Mitochondrial inheritance Mitochondriale Vererbung Modo de hereditariedade mitocondrial Sporadic Sporadic Sporadica Sporadique Sporadisch Trasmissione mitocondriale disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Pearson syndrome Pearson-Syndrom Sindrome di Pearson Syndrome de Pearson Síndrome de Pearson Síndrome de Pearson hrdo:pat_id_19300 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613509 neant Q93.5 238750 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Del(4)(q21) Del(4)(q21) Del(4)(q21) Del(4)(q21) Del(4)(q21) Monosomia 4q21 Monosomie 4q21 Monosomie 4q21 Monosomy 4q21 Monosomía 4q21 4q21 microdeletion syndrome Mikrodeletionssyndrom 4q21 Sindrome da microdelezione 4q21 Syndrome de microdélétion 4q21 Síndrome da microdeleção 4q21 Síndrome de microdeleción 4q21 hrdo:pat_id_19301 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 613530 neant G71.0 238755 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 LGMD1H LGMD1H LGMD1H LGMD1H LGMD1H Autosomal dominant limb-girdle muscular dystrophy type 1H Distrofia dei cingoli autosomica dominante, tipo 1H Distrofia muscular das cinturas tipo 1H, autossómica dominante Distrofia muscular de cinturas autosómica dominante tipo 1H Dystrophie musculaire des ceintures autosomique dominante type 1H Gliedergürtelmuskeldystrophie, autosomal-dominante, Typ 1H hrdo:pat_id_19302 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q15.8 238763 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Megalocornea - sferofachia - glaucoma secondario Megalocornea - spherophakia - secondary glaucoma Megalocórnea - esferofaquia - glaucoma secundario Megalocórnea - esferofaquia - glaucoma secundário Megalokornea - Sphärophakie - sekundäres Glaukom Mégalocornée - sphérophakie - glaucome secondaire hrdo:pat_id_19304 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 238766 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Ptose - sindactilia - dificuldades de aprendizagem Ptosi - sindattilia - difficoltà di apprendimento Ptosis - Syndaktylie - Lernschwierigkeiten Ptosis - sindactilia - dificultades de aprendizaje Ptosis - syndactylie - difficultés d'apprentissage Ptosis - syndactyly - learning difficulties hrdo:pat_id_19305 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q93.5 238769 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Del(1)(q44) Del(1)(q44) Del(1)(q44) Del(1)(q44) Del(1)(q44) Monosomia 1q44 Monosomie 1q44 Monosomie 1q44 Monosomy 1q44 Monosomía 1q44 1q44 microdeletion syndrome Mikrodeletionssyndrom 1q44 Sindrome da microdelezione 1q44 Syndrome de microdélétion 1q44 Síndrome da microdeleção 1q44 Síndrome de microdeleción 1q44 hrdo:pat_id_1931 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 155145 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=median+cleft+corpus+callosum+lipoma+OR+Pai+syndrome%5Btw%5D Q87.8 1993 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Fente médiane de la lèvre supérieure - lipome du corps calleux - polypes cutanés Hendidura media del labio superior - lipoma del cuerpo calloso - pólipos cutáneos Median cleft of the upper lip - corpus callosum lipoma - cutaneous polyps Mediane Oberlippenspalte - Corpus-callosum-Lipom - Hautpolypen Pai, síndrome de Schisi mediana del labbro superiore - lipoma del corpo calloso - polipi cutanei Síndrome de Pai Fenda mediana do lábio superior - lipoma do corpo caloso - pólipos cutâneos Pai syndrome Pai-Syndrom Sindrome di Pai Syndrome de Pai Síndrome de Pai hrdo:pat_id_1932 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q87.8 1995 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Ausems-Wittebol Post-Hennekam syndrome Ausems-Wittebol-Post-Hennekam, síndrome de Ausems-Wittebol-Post-Hennekam-Syndrom Sindrome di Ausems-Wittebol Post-Hennekam Syndrome d'Ausems-Wittebol Post-Hennekam Síndrome de Ausems-Wittebol-Post-Hennekam Síndrome de Ausems-Wittebol-Post-Hennekam Cleft lip - retinopathy Fenda labial - retinopatia Fente labiale - rétinopathie Fisura labial - retinopatía Labioschisi - retinopatia Lippenspalte - Retinopathie hrdo:pat_id_19331 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 601104 609454 610898 neant G23.1 240071 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Classical PSP Enfermedad de Steele-Richardson-Olszewski Maladie de Steele-Richardson-Olszewski Malattia di Steele-Richardson-Olszewski PSP classica PSP classique PSP clásica PSP, klassische Richardson's syndrome Richardson-Syndrom Sindrome di Richardson Steele-Richardson-Olszewski disease Steele-Richardson-Olszewski-Krankheit Syndrome de Richardson Síndrome de Richardson Classical progressive supranuclear palsy Paralisi sopranucleare progressiva classica Paralisia supranuclear progressiva clássica Paralysie supranucléaire progressive classique Parálisis supranuclear progresiva clásica Progressive supranukleäre Blickparese, klassische hrdo:pat_id_19332 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 260540 neant G23.1 240085 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown PSP-P PSP-Parkinsonismus PSP-p PSP-p PSP-p PSP-p PSP-parkinsonism PSP-parkinsonisme PSP-parkinsonismo PSP-parkinsonismo Paralisi sopranucleare progressiva - parkinsonismo Paralisia supranuclear progressiva - parkinsonismo Paralysie supranucléaire progressive - parkinsonisme Parálisis supranuclear progresiva - parkinsonismo Progressive supranuclear palsy - parkinsonism Progressive supranukleäre Blickparese - Parkinsonismus hrdo:pat_id_19333 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant G23.1 240094 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 PSP-Akinesie mit Gang-Blockaden PSP-PAGF PSP-PAGF PSP-PAGF PSP-PAGF PSP-PAGF PSP-acinesia pura con congelación de la marcha PSP-acinesia pura con freezing della deambulazione PSP-akinésie pure avec freezing de la marche PSP-pure akinesia with gait freezing Paralisi sopranucleare progressiva - acinesia pura senza freezing della deambulazione Paralisia supranuclear progressiva - acinésia pura com paralisia da marcha Paralysie supranucléaire progressive - akinésie pure avec freezing de la marche Parálisis supranuclear progresiva - acinesia pura con congelación de la marcha Progressive supranuclear palsy - pure akinesia with gait freezing Progressive supranukleäre Blickparese - Akinesie mit Gang-Blockaden hrdo:pat_id_19334 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant G23.1 240103 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 PSP-CBS PSP-CBS PSP-CBS PSP-CBS PSP-CBS PSP-corticobasal syndrome PSP-kortikobasales Syndrom PSP-sindrome corticobasale PSP-syndrome corticobasal PSP-síndrome corticobasal Paralisi sopranucleare progressiva - sindrome corticobasale Paralisia supranuclear progressiva - síndrome corticobasal Paralysie supranucléaire progressive - syndrome corticobasal Parálisis supranuclear progresiva - síndrome corticobasal Progressive supranuclear palsy - corticobasal syndrome Progressive supranukleäre Blickparese - kortikobasales Syndrom hrdo:pat_id_19335 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant G23.1 240112 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 PSP-AOS PSP-AOS PSP-AOS PSP-AOS PSP-PNFA PSP-PNFA PSP-PNFA PSP-PNFA Paralisi sopranucleare progressiva - aprassia del linguaggio Paralysie supranucléaire progressive - apraxie verbale Parálisis supranuclear progresiva - apraxia del habla Progressive supranuclear palsy - apraxia of speech Paralisi sopranucleare progressiva - afasia non fluente progressiva Paralisia supranuclear progressiva - afasia não fluente progressiva Paralysie supranucléaire progressive - aphasie progressive non fluente Parálisis supranuclear progresiva - afasia progresiva no fluida Progressive supranuclear palsy - progressive non fluent aphasia Progressive supranuclear palsy - progressive non fluent aphasia hrdo:pat_id_19336 neant D76.3 240266 group of phenomes Histiocitose sistémica de células não-Langerhans Histiocitosis de células no-Langerhans sistémica Histiocytose non-Langerhansienne systémique Istiocitosi sistemica a cellule non Langerhans Systemic non-Langerhans cell histiocytosis Zell-Histiozytose, systemische (nicht Langerhans) hrdo:pat_id_19337 240371 group of phenomes Adipositas, syndromale Obesidad sindrómica Obesidade sindrómica Obesità sindromica Obésité syndromique Syndromic obesity hrdo:pat_id_1934 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 119580 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Clefting%5Bti%5D+OR+cleft+palate%5Bmajr%5D%29+ectropion+OR+%28Blepharocheilodontic+OR+Blepharo+cheilo+dontic%29 Q87.8 1997 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Blefaro-queilo-odontico, síndrome Clefting - ectropion - conical teeth Ectropion inferior - cleft lip and or palate Ectropion inferiore - labiopalatoschisi Ectropion inférieur - fente labiopalatine Ectropium inferior - fenda labial e/ou palatina Ektropium, inferior - Lippen- und/oder Gaumenspalten Elsching syndrome Elsching-Syndrom Fente labiopalatine - ectropion de la paupière - dents coniques Gaumenspalte - Ektropion - konische Zähne Lagoftalmo - labiopalatoschisi Lagophtalmie - fente labiopalatine Lagophthalmia - cleft lip and palate Lagophthalmus - Lippen-Kiefer-Gaumenspalte Schisi - ectropion - denti conici Sindrome di Elsching Syndrome d'Elschnig Síndrome blefaro-queilo-odontico Síndrome de Elsching Blepharo-cheilo-dentales Syndrom Blepharo-cheilo-odontic syndrome Fenda - ectropium - dentes cónicos Sindrome blefaro-cheilo-dentale Syndrome blépharo-cheilo-odontique Síndrome blefaro queilo odóntico hrdo:pat_id_19345 613078 neant 240760 malformation syndrome Deficit di RAD50 Disturbo NBS-simile Déficit de RAD50 Déficit en RAD50 Microcefalia e inestabilidad cromosómica sin inmunodeficiencia Microcefalia e instabilità cromosomica senza immunodeficienza Microcephaly and chromosomal instability without immunodeficiency Microcéphalie et instabilité chromosomique sans immunodéficience - NBS-like disorder NBSLD NBSLD NBSLD RAD50 deficiency Syndrome de Nimègue-like Trastorno tipo NBS Disturbo sindromico da rottura cromosomica simil-Nijmegen Doença síndrome de quebras de Nijmegen-like Nijmegen breakage syndrome-like disorder Nijmegen-Breakage-Syndrom-ähnliche Krankheit Syndrome de Nijmegen-like Trastorno tipo síndrome de rotura de Nijmegen hrdo:pat_id_19346 neant T45.1 240839 particular clinical situation in a disease or syndrome 5-Fluorouracil-Toxizität 5-fluorouracil toxicity Tossicità del 5-fluorouracile Toxicidad por 5-fluorouracilo Toxicidade pelo 5-fluorouracil Toxicité du 5-fluorouracile hrdo:pat_id_19347 neant T37.5 240841 particular clinical situation in a disease or syndrome Abacavir toxicity Abacavir-Toxizität Tossicità dell'abacavir Toxicidad por abacavir Toxicidade pelo abacavir Toxicité de l'abacavir hrdo:pat_id_19348 neant T45.5 240843 particular clinical situation in a disease or syndrome Acenocoumarol toxicity Acenocoumarol-Toxizität Tossicità dell'acenocoumarolo Toxicidad por acenocumarol Toxicidade pelo acenocoumarol Toxicité de l'acenocoumarol hrdo:pat_id_19349 neant T50.4 240845 particular clinical situation in a disease or syndrome Allopurinol toxicity Allopurinol-Toxizität Tossicità dell'allopurinolo Toxicidad por alopurinol Toxicidade pelo alopurinol Toxicité de l'allopurinol hrdo:pat_id_19350 neant T43.0 240847 particular clinical situation in a disease or syndrome Amitriptylin-Toxizität Amitriptyline toxicity Tossicità dell'amitriptilina Toxicidad por amitriptilina Toxicidade pela amitriptilina Toxicité de l'amitriptyline hrdo:pat_id_19351 neant T43.3 T43.4 T43.5 240849 particular clinical situation in a disease or syndrome Antipsychotics toxicity Neuroleptika-Toxizität Tossicità degli antipsicotici Toxicidad por antipsicóticos Toxicidade pelos antipsicóticos Toxicité des antipsychotiques hrdo:pat_id_19352 neant T46.6 240851 particular clinical situation in a disease or syndrome Atorvastatin toxicity Atorvastatin-Toxizität Tossicità dell'atorvastatina Toxicidad por atorvastatina Toxicidade pela atorvastatina Toxicité de l'atorvastatine hrdo:pat_id_19353 neant T45.1 240853 particular clinical situation in a disease or syndrome Azathioprin-Toxizität Azathioprine toxicity Tossicità dell'azatioprina Toxicidad por azatioprina Toxicidade pela azatioprina Toxicité de l'azathioprine hrdo:pat_id_19354 neant T45.1 240855 particular clinical situation in a disease or syndrome Capecitabin-Toxizität Capecitabine toxicity Tossicità della capecitabina Toxicidad por capecitabina Toxicidade pela capecitabina Toxicité de la capécitabine hrdo:pat_id_19355 neant T42.1 240857 particular clinical situation in a disease or syndrome Carbamazepin-Toxizität Carbamazepine toxicity Tossicità della carbamazepina Toxicidad por carbamazepina Toxicidade pela carbamazepina Toxicité de la carbamazepine hrdo:pat_id_19356 neant T48.1 240859 particular clinical situation in a disease or syndrome Carbutamid-Toxizität Carbutamide toxicity Tossicità della carbutamide Toxicidad por carbutamida Toxicidade pela carbutamida Toxicité du carbutamide hrdo:pat_id_19357 neant T48.1 240861 particular clinical situation in a disease or syndrome Cisatracurium toxicity Cisatracurium-Toxizität Tossicità del cisatracurio Toxicidad por cisatracurio Toxicidade pelo cisatracúrio Toxicité du cisatracurium hrdo:pat_id_19358 613290 neant T45.1 240863 particular clinical situation in a disease or syndrome Cisplatin toxicity Cisplatin-Toxizität Tossicità del cisplatino Toxicidad por cisplatino Toxicidade pela cisplatina Toxicité du cisplatine hrdo:pat_id_19359 neant T43.0 240865 particular clinical situation in a disease or syndrome Clomipramin-Toxizität Clomipramine toxicity Tossicità della clomipramina Toxicidad por clomipramina Toxicidade pela clomipramina Toxicité de la clomipramine hrdo:pat_id_19360 neant T40.2 240867 particular clinical situation in a disease or syndrome Codein-Toxizität Codeine toxicity Tossicità della codeina Toxicidad por codeína Toxicidade pela codeína Toxicité de la codéine hrdo:pat_id_19361 614546 neant T37.5 240869 particular clinical situation in a disease or syndrome Efavirenz toxicity Efavirenz-Toxizität Tossicità dell'efavirenz Toxicidad por efavirenz Toxicidade pelo efavirenz Toxicité de l'efavirenz hrdo:pat_id_19362 neant T36.0 240871 particular clinical situation in a disease or syndrome Flucloxacillin-Toxizität Flucloxacilline toxicity Tossicità della flucloxacillina Toxicidad por flucloxacilina Toxicidade pela flucloxacilina Toxicité de la flucloxacilline hrdo:pat_id_19363 neant T45.5 240873 particular clinical situation in a disease or syndrome Fluindione toxicity Fluindione-Toxizität Tossicità del fluindione Toxicidad por fluindiona Toxicidade pela fluindiona Toxicité de la fluindione hrdo:pat_id_19364 neant T38.3 240875 particular clinical situation in a disease or syndrome Glibenclamid-Toxizität Glibenclamide toxicity Tossicità della glibenclamide Toxicidad por glibenclamida Toxicidade pela glibenclamida Toxicité du glibenclamide hrdo:pat_id_19365 neant T38.3 240877 particular clinical situation in a disease or syndrome Gliclazid-Toxizität Gliclazide toxicity Tossicità della gliclazide Toxicidad por gliclazida Toxicidade pela gliclazida Toxicité du gliclazide hrdo:pat_id_19366 neant T38.3 240879 particular clinical situation in a disease or syndrome Glimepirid-Toxizität Glimepiride toxicity Tossicità della glimepiride Toxicidad por glimepirida Toxicidade pela glimepirida Toxicité du glimepiride hrdo:pat_id_19367 neant T38.3 240881 particular clinical situation in a disease or syndrome Glipizid-Toxizität Glipizide toxicity Tossicità della glipizide Toxicidad por glipizida Toxicidade pela glipizida Toxicité du glipizide hrdo:pat_id_19368 neant T43.0 240883 particular clinical situation in a disease or syndrome Imipramin-Toxizität Imipramine toxicity Tossicità dell'imipramina Toxicidad por imipramina Toxicidade pela imipramina Toxicité de l'imipramine hrdo:pat_id_19369 neant T45.1 240885 particular clinical situation in a disease or syndrome Irinotecan toxicity Irinotecan-Toxizität Tossicità dell'irinotecan Toxicidad por irinotecán Toxicidade pelo irinotecano Toxicité de l'irinotécan hrdo:pat_id_19370 neant T37.1 240887 particular clinical situation in a disease or syndrome Isoniazid toxicity Isoniazid-Toxizität Tossicità dell'isoniazide Toxicidad por isoniazida Toxicidade pela isoniazida Toxicité de l'isoniazide hrdo:pat_id_19371 neant T45.1 240889 particular clinical situation in a disease or syndrome Mercaptopurin-Toxizität Mercaptopurine toxicity Tossicità della mercaptopurina Toxicidad por mercaptopurina Toxicidade pela mercaptopurina Toxicité de la mercaptopurine hrdo:pat_id_19372 neant T48.1 240891 particular clinical situation in a disease or syndrome Mivacurium toxicity Mivacurium-Toxizität Tossicità del mivacurio Toxicidad por mivacurio Toxicidade pelo mivacúrio Toxicité du mivacurium hrdo:pat_id_19373 neant T43.0 240893 particular clinical situation in a disease or syndrome Nortriptylin-Toxizität Nortriptyline toxicity Tossicità della nortriptilina Toxicidad por nortriptilina Toxicidade pela nortriptilina Toxicité de la nortriptyline hrdo:pat_id_19374 neant T48.1 240895 particular clinical situation in a disease or syndrome Pancuronium toxicity Pancuronium-Toxizität Tossicità del pancuronio Toxicidad por pancuronio Toxicidade pelo pancurónio Toxicité du pancuronium hrdo:pat_id_19375 neant T45.5 240897 particular clinical situation in a disease or syndrome Phenprocoumon toxicity Phenprocoumon-Toxizität Tossicità del phenprocoumone Toxicidad por fenprocumon Toxicidade pelo fenprocoumon Toxicité du phenprocoumon hrdo:pat_id_19376 neant T42.0 240899 particular clinical situation in a disease or syndrome Phenytoin toxicity Phenytoin-Toxizität Tossicità della fenitoina Toxicidad por fenitoína Toxicidade pela fenitoína Toxicité de la phenytoine hrdo:pat_id_19377 neant T42.0 240901 particular clinical situation in a disease or syndrome Fosphenytoin toxicity Phosphenytoin-Toxizität Tossicità della fosfenitoina Toxicidad por fosfenitoína Toxicidade pela fosfenitoína Toxicité de la fosphénytoïne hrdo:pat_id_19378 neant T46.6 240903 particular clinical situation in a disease or syndrome Pravastatin toxicity Pravastatin-Toxizität Tossicità della pravastatina Toxicidad por pravastatina Toxicidade pela pravastatina Toxicité de la pravastatine hrdo:pat_id_19379 neant T37.5 240905 particular clinical situation in a disease or syndrome Raltegravir toxicity Raltegravir-Toxizität Tossicità del raltegravir Toxicidad por raltegravir Toxicidade pelo raltegravir Toxicité du raltegravir hrdo:pat_id_1938 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601165 neant Q87.8 2001 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 McPherson-Clemens syndrome Mcpherson-Clemens, síndrome de Mcpherson-Clemens-Syndrom Sindrome di McPherson Clemens Syndrome de McPherson-Clemens Síndrome de Mcpherson-Clemens Síndrome de Mcpherson-Clemens Cleft lip/palate - intestinal malrotation - cardiopathy Fenda lábio-palatina - malrotação - cardiopatia Fente labiopalatine - malrotation - cardiopathie Fisura labiopalatina - malrotación - cardiopatía Labiopalatoschisi - malrotazione cardiopatia Lippen-Kiefer-Gaumenspalte - Malrotation - Kardiopathie hrdo:pat_id_19380 neant T48.1 240907 particular clinical situation in a disease or syndrome Rocuronium toxicity Rocuronium-Toxizität Tossicità del rocuronio Toxicidad por rocuronio Toxicidade pelo rocurónio Toxicité du rocuronium hrdo:pat_id_19381 neant T46.6 240909 particular clinical situation in a disease or syndrome Rosuvastatin toxicity Rosuvastatin-Toxizität Tossicità della rosuvastatina Toxicidad por rosuvastatina Toxicidade pela rosuvastatina Toxicité de la rosuvastatine hrdo:pat_id_19382 neant T48.1 240911 particular clinical situation in a disease or syndrome Atracurium-Toxizität Satracurium toxicity Tossicità del satracurio Toxicidad por satracurio Toxicidade pelo atracúrio Toxicité du satracurium hrdo:pat_id_19383 neant T46.6 240913 particular clinical situation in a disease or syndrome Simvastatin toxicity Simvastatin-Toxizität Tossicità della simvastatina Toxicidad por simvastatina Toxicidade pela sinvastatina Toxicité de la simvastatine hrdo:pat_id_19384 neant T43.0 240915 particular clinical situation in a disease or syndrome Tossicità della trimipramina Toxicidad por trimipramina Toxicidade pela trimipramina Toxicité de la trimipramine Trimipramin-Toxizität Trimipramine toxicity hrdo:pat_id_19385 neant T48.1 240917 particular clinical situation in a disease or syndrome Tossicità del vecuronio Toxicidad por vecuronio Toxicidade pelo vecurónio Toxicité du vecuronium Vecuronium toxicity Vecuronium-Toxizität hrdo:pat_id_19386 neant T43.2 240919 particular clinical situation in a disease or syndrome Tossicità della venlafaxina Toxicidad por venlafaxina Toxicidade pela venlafaxina Toxicité de la venlafaxine Venlafaxin-Toxizität Venlafaxine toxicity hrdo:pat_id_19387 neant T36.7 240921 particular clinical situation in a disease or syndrome Tossicità del voriconazolo Toxicidad por voriconazol Toxicidade pelo voriconazol Toxicité du voriconazole Voriconazol-Toxizität Voriconazole toxicity hrdo:pat_id_19388 neant T45.5 240923 particular clinical situation in a disease or syndrome Tossicità della warfarina Toxicidad por warfarina Toxicidade pela varfarina Toxicité de la warfarine Warfarin-Toxizität Warfarine toxicity hrdo:pat_id_19389 240925 particular clinical situation in a disease or syndrome Azathioprine dose selection in the treatment of Crohn disease, leukemia and in transplantation Azathioprine dose selection in the treatment of Crohn disease, leukemia and in transplantation Choix du dosage de l'azathioprine dans le traitement de la maladie de Crohn, de la leucémie et dans la transplantation Scelta del dosaggio dell'azatioprina per il trattamento della malattia di Crohn, della leucemia e nel trapianto Selección de dosis de azatioprina en el tratamiento de la enfermedad de Crohn, de la leucemia y en trasplantes. Seleção da dose de azatioprina no tratamento da doença de Crohn, leucemia e transplantação hrdo:pat_id_19390 240927 particular clinical situation in a disease or syndrome Choix du dosage de la mercaptopurine dans le traitement de la maladie de Crohn, de la leucémie et dans la transplantation Mercaptopurine dose selection in the treatment of Crohn disease, leukemia and in transplantation Mercaptopurine dose selection in the treatment of Crohn disease, leukemia and in transplantation Scelta del dosaggio della mercaptopurina nel trattamento della malattia di Crohn, della leucemia e nel trapianto Selección de dosis de mercaptopurina en el tratamiento de la enfermedad de Crohn, de la leucemia y en trasplantes. Seleção da dose de mercaptopurina no tratamento da doença de Crohn, leucemia e transplantação hrdo:pat_id_19391 240929 particular clinical situation in a disease or syndrome Resistance to acenocoumarol in venous thrombosis and atrial fibrillation Resistencia al acenocumarol en la trombosis venosa y en la fibrilación auricular Resistenz gegen Acenocoumarol bei der Behandlung von Venenthrombose und Vorhofflimmern Resistenza all'acenocoumarol nella trombosi venosa e nella fibrillazione atriale Resistência ao acenocoumarol na trombose venosa e na fibrilação auricular Résistance à l'acenocoumarol dans la thrombose veineuse et l'arythmie complète par fibrillation auriculaire hrdo:pat_id_19392 240931 particular clinical situation in a disease or syndrome Resistance to amitriptyline in the treatment of depression Resistencia a la amitriptilina en el tratamiento de la depresión Resistenz gegen Amitriptylin bei der Behandlung der Depression Resistenza all'amitriptilina nel trattamento della depressione Resistência à amitriptilina no tratamento da depressão Résistance à l'amitriptyline dans le traitement de la dépression hrdo:pat_id_19393 240933 particular clinical situation in a disease or syndrome Resistance to clomipramine in the treatment of depression Resistencia a la clomipramina en el tratamiento de la depresión Resistenz gegen Clomipramin bei der Behandlung der Depression Resistenza alla clomipramina nel trattamento della depressione Resistência à clomipramina no tratamento da depressão Résistance à la clomipramine dans le traitement de la dépression hrdo:pat_id_19394 609535 neant 240935 particular clinical situation in a disease or syndrome Resistance to clopidogrel in myocardial infarction, cerebrovascular accident, oblitering arteriopathy of the lower limbs Resistance to clopidogrel in myocardial infarction, cerebrovascular accident, oblitering arteriopathy of the lower limbs Resistance to clopidogrel in myocardial infarction, cerebrovascular accident, oblitering arteriopathy of the lower limbs Resistencia al clopidogrel en infarto de miocardio, accidente cerebrovascular y arteriopatía de miembros inferiores Resistência ao clopidogrel no enfarte do miocárdio, acidente cerebrovascular e arteriopatia obliteradora dos membros inferiores Résistance au clopidogrel dans l'infarctus du myocarde, l'accident vasculaire cérébral, l'artérite des membres inférieurs hrdo:pat_id_19395 240937 particular clinical situation in a disease or syndrome Resistance to fluindione in venous thrombosis and atrial fibrillation Resistencia a la fluindiona en la trombosis venosa y en la fibrilación auricular Resistenz gegen Fluindion bei der Behandlung von Venenthrombose und Vorhofflimmern Resistenza al fluindione nella trombosi venosa e nella fibrillazione atriale Resistência à fluindiona na trombose venosa e na fibrilação auricular Résistance à la fluindione dans la thrombose veineuse et l'arythmie complète par fibrillation auriculaire hrdo:pat_id_19396 240939 particular clinical situation in a disease or syndrome Resistance to imipramine in the treatment of depression Resistencia a la imipramina en el tratamiento de la depresión Resistenz gegen Imipramin bei der Behandlung der Depression Resistenza all'imipramina nel trattamento della depressione Resistência à imipramina no tratamento da depressão Résistance à l'imipramine dans le traitement de la dépression hrdo:pat_id_19397 240941 particular clinical situation in a disease or syndrome Resistance to nortripilline in the treatment of depression Resistencia a la nortripilina en el tratamiento de la depresión Resistenz gegen Nortripillin bei der Behandlung der Depression Resistenza alla nortriptilina nel trattamento della depressione Resistência à nortripilina no tratamento da depressão Résistance à la nortripilline dans le traitement de la dépression hrdo:pat_id_19398 240943 particular clinical situation in a disease or syndrome Resistance to phenprocoumon in venous thrombosis and atrial fibrillation Resistencia al fenprocumon en la trombosis venosa y en la fibrilación auricular Resistenz gegen Phenprocoumon bei der Behandlung von Venenthrombose und Vorhofflimmern Resistenza al phenprocoumon nella trombosi venosa e nella fibrillazione atriale Resistência ao fenprocoumon na trombose venosa e na fibrilação auricular Résistance au phenprocoumon dans la thrombose veineuse et l'arythmie complète par fibrillation auriculaire hrdo:pat_id_19399 240945 particular clinical situation in a disease or syndrome Resistance to tacrolimus in transplantation Resistencia al tacrolimus en trasplante Resistenz gegen Tacrolimus bei der Transplantation Resistenza al tacrolimus nel trapianto Resistência ao tacrolimo no transplante Résistance au tacrolimus dans la transplantation hrdo:pat_id_194 Variabel Variabile Variable Variable Variable Variable Variável 613490 C531610 D019896 10001806 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=alpha+1+antitrypsin+deficiency%5Bmajr%5D+OR+antitrypsin+deficiency%5Btw%5D+OR+alpha+1-Antichymotrypsin%2Fdf E88.0 60 30188007 C0221757 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 A1-PI-Mangel AATM Alpha-1-Antitrypsin-Mangel Alpha-1 antitrypsin deficiency Alpha-1-Proteinase-Inhibitor-Mangel Deficit di alfa-1-antitripsina Deficiência de alfa-1 antitripsina (AAT) Déficit de alfa-1 antitripsina Déficit en alpha-1 antitrypsine hrdo:pat_id_1940 223200 2003 malformation syndrome Lowry-Yong syndrome Lowry-Yong, síndrome de Lowry-Yong-Syndrom Sindrome di Lowry-Yong Syndrome de Lowry-Yong Síndrome de Lowry-Yong Síndrome de Lowry-Yong Cleft lip/palate - deafness - sacral lipoma Fenda lábio-palatina - surdez - lipoma sagrado Fente labiopalatine - surdité - lipome sacré Fisura labiopalatina - sordera - lipoma sacro Labiopalatoschisi - sordità - lipoma sacrale Lippen-Kiefer-Gaumenspalte - Schwerhörigkeit - Sakrallipom hrdo:pat_id_19400 240947 particular clinical situation in a disease or syndrome Resistance to tamoxifene in breast cancer Resistencia al tamoxifeno en el tratamiento del cáncer de mama Resistenz gegen Tamoxifen bei der Behandlung von Brustkrebs Resistenza al tamoxifene nel cancro al seno Resistência ao tamoxifeno no cancro da mama Résistance au tamoxifène dans le traitement du cancer du sein hrdo:pat_id_19401 240949 particular clinical situation in a disease or syndrome Resistance to trimipramine in the treatment of depression Resistencia a la trimipramina en el tratamiento de la depresión Resistenz gegen Trimipramin bei der Behandlung der Depression Resistenza della trimipramina nel trattamento della depressione Resistência à trimipramina no tratamento da depressão Résistance à la trimipramine dans le traitement de la dépression hrdo:pat_id_19402 240951 particular clinical situation in a disease or syndrome Resistance to venlafaxine in the treatment of depression Resistencia a la venlafaxina en el tratamiento de la depresión Resistenz gegen Venlafaxin bei der Behandlung der Depression Resistenza della venlafaxina nel trattamento della depressione Resistência à venlafaxina no tratamento da depressão Résistance à la venlafaxine dans le traitement de la dépression hrdo:pat_id_19403 240953 particular clinical situation in a disease or syndrome Resistance to warfarine in venous thrombosis and atrial fibrillation Resistencia a la warfarina en la trombosis venosa y en la fibrilación auricular Resistenz gegen Warfarin bei der Behandlung von Venenthrombose und Vorhofflimmern Resistenza della warfarina nella trombosi venosa e nella fibrillazione atriale Resistência à varfarina na trombose venosa e na fibrilação auricular Résistance à la warfarine dans la thrombose veineuse et l'arythmie complète par fibrillation auriculaire hrdo:pat_id_19404 240955 particular clinical situation in a disease or syndrome Empfänglichkeit für Nebenwirkungen bei der Behandlung mit 5-Fluorouracil Susceptibilidad a los efectos secundarios del tratamiento con 5-fluorouracilo Susceptibility to adverse reaction due to 5-fluorouracil treatment Susceptibilité aux effets indésirables graves du 5-fluorouracile Suscetibilidade a reação adversa por tratamento com 5-fluorouracilo Suscettibilità agli effetti collaterali del trattamento con 5-fluorouracile hrdo:pat_id_19405 240957 particular clinical situation in a disease or syndrome Empfänglichkeit für Nebenwirkungen bei der Behandlung mit Amitriptylin Susceptibilidad a los efectos secundarios del tratamiento con amitriptilina Susceptibility to adverse reaction due to amitriptyline treatment Susceptibilité aux effets indésirables graves de l'amitriptyline Suscetibilidade a reação adversa por tratamento com amitriptilina Suscettibilità agli effetti collaterali del trattamento con amitriptilina hrdo:pat_id_19406 240959 particular clinical situation in a disease or syndrome Empfänglichkeit für Nebenwirkungen bei der Behandlung mit Neuroleptika Susceptibilidad a los efectos secundarios del tratamiento con antipsicóticos Susceptibility to adverse reaction due to antipsychotics treatment Susceptibilité aux effets indésirables graves des antipsychotiques Suscetibilidade a reação adversa por tratamento com antipsicóticos Suscettibilità agli effetti collaterali del trattamento con antipsicotici hrdo:pat_id_19407 240961 particular clinical situation in a disease or syndrome Empfänglichkeit für Nebenwirkungen bei der Behandlung mit Atorvastatin Susceptibilidad a los efectos secundarios del tratamiento con atorvastatina Susceptibility to adverse reaction due to atorvastatin treatment Susceptibilité aux effets indésirables graves de l'atorvastatine Suscetibilidade a reação adversa por tratamento com atorvastatina Suscettibilità agli effetti collaterali del trattamento con atorvastatina hrdo:pat_id_19408 240963 particular clinical situation in a disease or syndrome Empfänglichkeit für Nebenwirkungen bei der Behandlung mit Capecitabin Susceptibilidad a los efectos secundarios del tratamiento con capecitabina Susceptibility to adverse reaction due to capecitabine treatment Susceptibilité aux effets indésirables graves de la capécitabine Suscetibilidade a reação adversa por tratamento com capecitabina Suscettibilità agli effetti collaterali del trattamento con capecitabina hrdo:pat_id_19409 240965 particular clinical situation in a disease or syndrome Empfänglichkeit für Nebenwirkungen bei der Behandlung mit Clomipramin Susceptibilidad a los efectos secundarios del tratamiento con clomipramina Susceptibility to adverse reaction due to clomipramine treatment Susceptibilité aux effets indésirables graves de la clomipramine Suscetibilidade a reação adversa por tratamento com clomipramina Suscettibilità agli effetti collaterali del trattamento con clomipramina hrdo:pat_id_1941 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 215800 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Laryngeal+cleft*%5Btw%5D+OR+laryngotracheal+cleft*%5Btw%5D Q32.1 2004 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Diastema laringo-tracheo-esofageo Diastema laringotraqueoesofágica Diastème laryngo-trachéo-oesophagien LC LC LC LC LC LTEC LTEC LTEC LTEC LTEC Laryngo-tracheo-esophageal diastema Laryngo-tracheo-ösophageale Diastema Fenda laringo-traqueo-esofágica Fente laryngo-trachéo-oesophagienne Hendidura laringotraqueoesofágica Laryngo-tracheo-esophageal cleft Laryngo-tracheo-ösophageale Spalte Schisi laringo-tracheo-esofagea hrdo:pat_id_19410 240967 particular clinical situation in a disease or syndrome Empfänglichkeit für Nebenwirkungen bei der Behandlung mit Kodein Susceptibilidad a los efectos secundarios del tratamiento con codeína Susceptibility to adverse reaction due to codeine treatment Susceptibilité aux effets indésirables graves de la codéine Suscetibilidade a reação adversa por tratamento com codeína Suscettibilità agli effetti collaterali del trattamento con codeina hrdo:pat_id_19411 614546 neant 240969 particular clinical situation in a disease or syndrome Empfänglichkeit für Nebenwirkungen bei der Behandlung mit Efavirenz Susceptibilidad a los efectos secundarios del tratamiento con efavirenz Susceptibility to adverse reaction due to efavirenz treatment Susceptibilité aux effets indésirables graves de l'efavirenz Suscetibilidade a reação adversa por tratamento com efavirenz Suscettibilità agli effetti collaterali del trattamento con efavirenz hrdo:pat_id_19412 240971 particular clinical situation in a disease or syndrome Empfänglichkeit für Nebenwirkungen bei der Behandlung mit Imipramin Susceptibilidad a los efectos secundarios del tratamiento con imipramina Susceptibility to adverse reaction due to imipramine treatment Susceptibilité aux effets indésirables graves de l'imipramine Suscetibilidade a reação adversa por tratamento com imipramina Suscettibilità agli effetti collaterali del trattamento con imipramina hrdo:pat_id_19413 240973 particular clinical situation in a disease or syndrome Empfänglichkeit für Nebenwirkungen bei der Behandlung mit Irinotecan Susceptibilidad a los efectos secundarios del tratamiento con irinotecán Susceptibility to adverse reaction due to irinotecan treatment Susceptibilité aux effets indésirables graves de l'irinotécan Suscetibilidade a reação adversa por tratamento com irinotecana Suscettibilità agli effetti collaterali del trattamento con irinotecan hrdo:pat_id_19414 240975 particular clinical situation in a disease or syndrome Empfänglichkeit für Nebenwirkungen bei der Behandlung mit Isoniazid Susceptibilidad a los efectos secundarios del tratamiento con isoniazida Susceptibility to adverse reaction due to isoniazide treatment Susceptibilité aux effets indésirables graves de l'isoniazide Suscetibilidade a reação adversa por tratamento com isoniazida Suscettibilità agli effetti collaterali del trattamento con isoniazide hrdo:pat_id_19415 240977 particular clinical situation in a disease or syndrome Empfänglichkeit für Nebenwirkungen bei der Behandlung mit Methotrexat Susceptibilidad a los efectos secundarios del tratamiento con metotrexato Susceptibility to adverse reaction due to methotrexate treatment Susceptibilité aux effets indésirables graves du methotrexate Suscetibilidade a reação adversa por tratamento com metotrexato Suscettibilità agli effetti collaterali del trattamento con metotrexato hrdo:pat_id_19416 240979 particular clinical situation in a disease or syndrome Empfänglichkeit für Nebenwirkungen bei der Behandlung mit Nortriptylin Susceptibilidad a los efectos secundarios del tratamiento con nortriptilina Susceptibility to adverse reaction due to nortriptyline treatment Susceptibilité aux effets indésirables graves de la nortriptyline Suscetibilidade a reação adversa por tratamento com nortriptilina Suscettibilità agli effetti collaterali del trattamento con nortriptilina hrdo:pat_id_19417 240981 particular clinical situation in a disease or syndrome Empfänglichkeit für Nebenwirkungen bei der Behandlung mit Pravastatin Susceptibilidad a los efectos secundarios del tratamiento con pravastatina Susceptibility to adverse reaction due to pravastatin treatment Susceptibilité aux effets indésirables graves de la pravastatine Suscetibilidade a reação adversa por tratamento com pravastatina Suscettibilità agli effetti collaterali del trattamento con pravastatina hrdo:pat_id_19418 240983 particular clinical situation in a disease or syndrome Empfänglichkeit für Nebenwirkungen bei der Behandlung mit Rosuvastatin Susceptibilidad a los efectos secundarios del tratamiento con rosuvastatina Susceptibility to adverse reaction due to rosuvastatin treatment Susceptibilité aux effets indésirables graves de la rosuvastatine Suscetibilidade a reação adversa por tratamento com rosuvastatina Suscettibilità agli effetti collaterali del trattamento con rosuvastatina hrdo:pat_id_19419 240985 particular clinical situation in a disease or syndrome Empfänglichkeit für Nebenwirkungen bei der Behandlung mit Simvastatin Susceptibilidad a los efectos secundarios del tratamiento con simvastatina Susceptibility to adverse reaction due to simvastatin treatment Susceptibilité aux effets indésirables graves de la simvastatine Suscetibilidade a reação adversa por tratamento com sinvastatina Suscettibilità agli effetti collaterali del trattamento con simvastatina hrdo:pat_id_1942 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 183400 Q36.1 2006 morphological anomaly <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Fente médiane de l'étage inférieur de la face Median cleft lower facial stage Fenda mediana do lábio inferior Fente médiane labio-mandibulaire Fisura mediana del labio inferior Median cleft lip/mandibule Mediane Unterlippenspalte Schisi mediana del labbro inferiore hrdo:pat_id_19420 240987 particular clinical situation in a disease or syndrome Empfänglichkeit für Nebenwirkungen bei der Behandlung mit Trimipramine Susceptibilidad a los efectos secundarios del tratamiento con trimipramina Susceptibility to adverse reaction due to trimipramine treatment Susceptibilité aux effets indésirables graves de la trimipramine Suscetibilidade a reação adversa por tratamento com trimipramina Suscettibilità agli effetti collaterali del trattamento con trimipramina hrdo:pat_id_19421 240989 particular clinical situation in a disease or syndrome Empfänglichkeit für Nebenwirkungen bei der Behandlung mit Venlafaxine Susceptibilidad a los efectos secundarios del tratamiento con venlafaxina Susceptibility to adverse reaction due to venlafaxine treatment Susceptibilité aux effets indésirables graves de la venlafaxine Suscetibilidade a reação adversa por tratamento com venlafaxina Suscettibilità agli effetti collaterali del trattamento con venlafaxina hrdo:pat_id_19422 240991 particular clinical situation in a disease or syndrome Blutungsneigung bei der Behandlung mit Acenocoumarol Susceptibilidad al sangrado en el tratamiento con acenocumarol Susceptibility to bleeding due to acenocoumarol treatment Susceptibilité au saignement dans le traitement par l'acenocoumarol Suscetibilidade a hemorragia por tratamento com acenocoumarol Suscettibilità alle emorragie da trattamento con acenocumarolo hrdo:pat_id_19423 240993 particular clinical situation in a disease or syndrome Blutungsneigung bei der Behandlung mit Fluindion Susceptibilidad al sangrado en el tratamiento con fluindiona Susceptibility to bleeding due to fluindione treatment Susceptibilité au saignement dans le traitement par la fluindione Suscetibilidade a hemorragia por tratamento com fluindiona Suscettibilità alle emorragie da trattamento con fluindione hrdo:pat_id_19424 240995 particular clinical situation in a disease or syndrome Blutungsneigung bei der Behandlung mit Phenprocoumon Susceptibilidad al sangrado en el tratamiento con fenprocumon Susceptibility to bleeding due to phenprocoumon treatment Susceptibilité au saignement dans le traitement par le phenprocoumon Suscetibilidade a hemorragia por tratamento com fenprocoumon Suscettibilità alle emorragie da trattamento con fenoprocumone hrdo:pat_id_19425 240997 particular clinical situation in a disease or syndrome Blutungsneigung bei der Behandlung mit Warfarin Susceptibilidad al sangrado en el tratamiento con warfarina Susceptibility to bleeding due to warfarine treatment Susceptibilité au saignement dans le traitement par la warfarine Suscetibilidade a hemorragia por tratamento com varfarina Suscettibilità alle emorragie da trattamento con warfarina hrdo:pat_id_19426 613290 neant 240999 particular clinical situation in a disease or syndrome Empfänglichkeit für Hörstörungen bei der Behandlung mit Cisplatin Susceptibilidad a la sordera en el tratamiento con cisplatino Susceptibility to deafness due to cisplatin treatment Susceptibilité à la surdité dans le traitement par le cisplatine Suscetibilidade a surdez por tratamento com cisplatina Suscettibilità alla sordità da trattamento con cisplatino hrdo:pat_id_19427 241001 particular clinical situation in a disease or syndrome Empfänglichkeit für Hepatitis bei der Behandlung mit Flucloxacilline Susceptibilidad a la hepatitis en el tratamiento con flucloxacilina Susceptibility to hepatitis due to flucloxacilline treatment Susceptibilité à l'hépatite dans le traitement par la flucloxacilline Suscetibilidade a hepatite por tratamento com flucloxacilina Suscettibilità all'epatite da trattamento con flucloxacillina hrdo:pat_id_19428 241003 particular clinical situation in a disease or syndrome Empfänglichkeit für Hepatitis bei der Behandlung mit Voriconazol Susceptibilidad a la hepatitis en el tratamiento con voriconazol Susceptibility to hepatitis due to voriconazole treatment Susceptibilité à l'hépatite dans le traitement par le voriconazole Suscetibilidade a hepatite por tratamento com voriconazol Suscettibilità all'epatite da trattamento con voriconazolo hrdo:pat_id_19429 241005 particular clinical situation in a disease or syndrome Empfänglichkeit für das Hypersensitivitäts-Syndrom bei der Behandlung mit Abacavir Susceptibilidad al síndrome de hipersensibilidad en el tratamiento con abacavir Susceptibility to hypersensitivity syndrome due to abacavir treatment Susceptibilité au syndrome d'hypersensibilité à l'abacavir Suscetibilidade ao síndrome de hipersensibilidade por tratamento com abacavir Suscettibilità alla sindrome da ipersensibilità dovuta a trattamento con abacavir hrdo:pat_id_1943 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 203000 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=frontonasal+dysplasia+AND+alar* Q75.8 2007 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Alar cartilages hypoplasia - coloboma - telecanthus Coloboma da cartilagem das asas do nariz - telecanto Fente narinaire - colobome - télécanthus Hendidura de narinas - telecanthus Nasenflügelspalte - Telekanthus Schisi delle narici - telecanto hrdo:pat_id_19430 241007 particular clinical situation in a disease or syndrome Empfänglichkeit für Hypoglykämie bei der Behandlung mit Carbutamid Susceptibilidad a la hipoglucemia en el tratamiento con carbutamida Susceptibility to hypoglycemia due to carbutamide treatment Susceptibilité à l'hypoglycémie dans le traitement par le carbutamide Suscetibilidade a hipoglicémia por tratamento com carbutamida Suscettibilità all'ipoglicemia da trattamento con carbutamide hrdo:pat_id_19431 241009 particular clinical situation in a disease or syndrome Empfänglichkeit für Hypoglykämie bei der Behandlung mit Glibenclamid Susceptibilidad a la hipoglucemia en el tratamiento con glibenclamida Susceptibility to hypoglycemia due to glibenclamide treatment Susceptibilité à l'hypoglycémie dans le traitement par le glibenclamide Suscetibilidade a hipoglicémia por tratamento com glibenclamida Suscettibilità all'ipoglicemia da trattamento con glibenclamide hrdo:pat_id_19432 241011 particular clinical situation in a disease or syndrome Empfänglichkeit für Hypoglykämie bei der Behandlung mit Gliclazid Susceptibilidad a la hipoglucemia en el tratamiento con gliclazida Susceptibility to hypoglycemia due to gliclazide treatment Susceptibilité à l'hypoglycémie dans le traitement par le gliclazide Suscetibilidade a hipoglicémia por tratamento com carbutamida Suscettibilità all'ipoglicemia da trattamento con glicazide hrdo:pat_id_19433 241013 particular clinical situation in a disease or syndrome Empfänglichkeit für Hypoglykämie bei der Behandlung mit Glimepirid Susceptibilidad a la hipoglucemia en el tratamiento con glimepirida Susceptibility to hypoglycemia due to glimepiride treatment Susceptibilité à l'hypoglycémie dans le traitement par le glimepiride Suscetibilidade a hipoglicémia por tratamento com glimepirida Suscettibilità all'ipoglicemia da trattamento con glimepiride hrdo:pat_id_19434 241015 particular clinical situation in a disease or syndrome Empfänglichkeit für Hypoglykämie bei der Behandlung mit Glipizid Susceptibilidad a la hipoglucemia en el tratamiento con glipizida Susceptibility to hypoglycemia due to glipizide treatment Susceptibilité à l'hypoglycémie dans le traitement par le glipizide Suscetibilidade a hipoglicémia por tratamento com glipizida Suscettibilità all'ipoglicemia da trattamento con glipizide hrdo:pat_id_19435 241017 particular clinical situation in a disease or syndrome Empfänglichkeit für Gelbsucht bei der Behandlung mit Raltegravir Susceptibilidad a la ictericia en el tratamiento con raltegravir Susceptibility to icterus due to raltegravir treatment Susceptibilité à l'ictère dans le traitement par le raltegravir Suscetibilidade a icterícia por tratamento com raltegravir Suscettibilità all'ittero da trattamento con raltegravir hrdo:pat_id_19436 241019 particular clinical situation in a disease or syndrome Empfänglichkeit für Neutropenie bei der Behandlung mit Azathioprin Susceptibilidad a la neutropenia en el tratamiento con azatioprina Susceptibility to neutropenia due to azathioprine treatment Susceptibilité à la neutropénie dans le traitement par l'azathioprine Suscetibilidade a neutropenia por tratamento com azatioprina Suscettibilità alla neutropenia da trattamento con azatioprina hrdo:pat_id_19437 241021 particular clinical situation in a disease or syndrome Empfänglichkeit für Neutropenie bei der Behandlung mit Mercaptopurin Susceptibilidad a la neutropenia en el tratamiento con mercaptopurina Susceptibility to neutropenia due to mercaptopurine treatment Susceptibilité à la neutropénie dans le traitement par la mercaptopurine Suscetibilidade a neutropenia por tratamento com mercaptopurina Suscettibilità alla neutropenia da trattamento con mercaptopurina hrdo:pat_id_19438 241023 particular clinical situation in a disease or syndrome Empfänglichkeit für verlängerte Paralyse bei der Behandlung mit Cisatracurium Susceptibilidad a la parálisis prolongada en el tratamiento con cisatracurio Susceptibility to prolonged paralysis due to cisatracurium treatment Susceptibilité à la paralysie prolongée dans le traitement par le cisatracurium Suscetibilidade a paralisia prolongada por tratamento com cisatracúrio Suscettibilità alla paralisi prolungata da trattamento con cisatracurio hrdo:pat_id_19439 241025 particular clinical situation in a disease or syndrome Empfänglichkeit für verlängerte Paralyse bei der Behandlung mit Mivacurium Susceptibilidad a la parálisis prolongada en el tratamiento con mivacurio Susceptibility to prolonged paralysis due to mivacurium treatment Susceptibilité à la paralysie prolongée dans le traitement par le mivacurium Suscetibilidade a paralisia prolongada por tratamento com mivacúrio Suscettibilità alla paralisi prolungata da trattamento con mivacurio hrdo:pat_id_19440 241027 particular clinical situation in a disease or syndrome Empfänglichkeit für verlängerte Paralyse bei der Behandlung mit Pancuronium Susceptibilidad a la parálisis prolongada en el tratamiento con pancuronio Susceptibility to prolonged paralysis due to pancuronium treatment Susceptibilité à la paralysie prolongée dans le traitement par le pancuronium Suscetibilidade a paralisia prolongada por tratamento com pancurónio Suscettibilità alla paralisi prolungata da trattamento con pancuronio hrdo:pat_id_19441 241029 particular clinical situation in a disease or syndrome Empfänglichkeit für verlängerte Paralyse bei der Behandlung mit Rocuronium Susceptibilidad a la parálisis prolongada en el tratamiento con rocuronio Susceptibility to prolonged paralysis due to rocuronium treatment Susceptibilité à la paralysie prolongée dans le traitement par le rocuronium Suscetibilidade a paralisia prolongada por tratamento com rocurónio Suscettibilità alla paralisi prolungata da trattamento con rocuronio hrdo:pat_id_19442 241031 particular clinical situation in a disease or syndrome Empfänglichkeit für verlängerte Paralyse bei der Behandlung mit Satracurium Susceptibilidad a la parálisis prolongada en el tratamiento con satracurio Susceptibility to prolonged paralysis due to satracurium treatment Susceptibilité à la paralysie prolongée dans le traitement par le satracurium Suscetibilidade a paralisia prolongada por tratamento com satracúrio Suscettibilità alla paralisi prolungata da trattamento con satracurio hrdo:pat_id_19443 241033 particular clinical situation in a disease or syndrome Empfänglichkeit für verlängerte Paralyse bei der Behandlung mit Vecuronium Susceptibilidad a la parálisis prolongada en el tratamiento con vecuronio Susceptibility to prolonged paralysis due to vecuronium treatment Susceptibilité à la paralysie prolongée dans le traitement par le vecuronium Suscetibilidade a paralisia prolongada por tratamento com vecurónio Suscettibilità alla paralisi prolungata da trattamento con vecuronio hrdo:pat_id_19444 241035 particular clinical situation in a disease or syndrome Empfänglichkeit für toxische epidermale Nekrolyse bei der Behandlung mit Allopurinol Susceptibilidad a la necrólisis epidérmica tóxica en el tratamiento con alopurinol Susceptibility to toxic epidermal necrolysis due to allopurinol treatment Susceptibilité à la nécrolyse épidermique toxique dans le traitement par l'allopurinol Suscetibilidade a necrólise epidérmica tóxica por tratamento com alopurinol Suscettibilità alla necrolisi epidermica tossica da trattamento con allopurinolo hrdo:pat_id_19445 241037 particular clinical situation in a disease or syndrome Empfänglichkeit für toxische epidermale Nekrolyse bei der Behandlung mit Carbamazepin Susceptibilidad a la necrólisis epidérmica tóxica en el tratamiento con carbamazepina Susceptibility to toxic epidermal necrolysis due to carbamazepine treatment Susceptibilité à la nécrolyse épidermique toxique dans le traitement par la carbamazepine Suscetibilidade a necrólise epidérmica tóxica por tratamento com carbamazepina Suscettibilità alla necrolisi epidermica tossica da trattamento con carbamazepina hrdo:pat_id_19446 241039 particular clinical situation in a disease or syndrome Empfänglichkeit für toxische epidermale Nekrolyse bei der Behandlung mit Phenytoin Susceptibilidad a la necrólisis epidérmica tóxica en el tratamiento con fenitoína Susceptibility to toxic epidermal necrolysis due to phenytoin treatment Susceptibilité à la nécrolyse épidermique toxique dans le traitement par la phenytoine Suscetibilidade a necrólise epidérmica tóxica por tratamento com fenitoína Suscettibilità alla necrolisi epidermica tossica da trattamento con fenitoina hrdo:pat_id_19447 241041 particular clinical situation in a disease or syndrome Empfänglichkeit für toxische epidermale Nekrolyse bei der Behandlung mit Phosphenytoin Susceptibilidad a la necrólisis epidérmica tóxica en el tratamiento con fosfenitoína Susceptibility to toxic epidermal necrolysis due to phosphenytoin treatment Susceptibilité à la nécrolyse épidermique toxique dans le traitement par la phosphenytoine Suscetibilidade a necrólise epidérmica tóxica por tratamento com fosfenitoína Suscettibilità alla necrolisi epidermica tossica da trattamento con fosfofenitoina hrdo:pat_id_19448 241043 particular clinical situation in a disease or syndrome Choix du dosage de tacrolimus dans la transplantation Elección de la dosis de tacrolimus en trasplante Scelta del dosaggio del tacrolimus nel trapianto Seleção da dose de tacrolimo no transplante Tacrolimus dose selection in transplantation Tacrolimus dose selection in transplantation hrdo:pat_id_19449 241045 particular clinical situation in a disease or syndrome Choix du dosage de la warfarine dans le traitement de la thrombose veineuse et de la fibrillation auriculaire Elección de la dosis de warfarina en el tratamiento de trombosis venosa y fibrilación auricular Scelta del dosaggio della warfarina per il trattamento della trombosi venosa e nella fibrillazione atriale Seleção da dose de varfarina no tratamento de trombose venosa e fibrilação auricular Warfarine dose selection in the treatment of venous thrombosis and atrial fibrillation Warfarine dose selection in the treatment of venous thrombosis and atrial fibrillation hrdo:pat_id_1945 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 600460 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=ectrodactyly+cleft+palate+heart+defect+OR+acro+cardio+facial%5Btw%5D Q87.8 2008 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ACFS ACFS Acro-cardio-facial, síndrome CCGE syndrome CCGE, síndrome Cleft palate - cardiac defect - genital anomalies - ectrodactyly Fente palatine - cardiopathie - anomalies génitales - ectrodactylie Gaumenspalte - Herzfehler - Genitalanomalien - Ektrodaktylie Sindrome CCGE Sindrome acro-cardio-facciale Syndrome CCGE Síndrome CCGE Síndrome acro-cardio-facial Acro-cardio-facial syndrome Akro-kardio-faziales Syndrom Fenda do palato - cardiopatia - anomalias genitais - ectrodactilia Fisura palatina - cardiopatía - ectrodactilia Palatoschisi - difetto cardiaco - anomalie dei genitali - ectrodattilia Syndrome acro-cardio-facial hrdo:pat_id_1946 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 216300 2010 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Fenda do palato - imobilidade do estapédio - oligodontia Cleft palate - stapes fixation - oligodontia Fenda do palato - surdez - oligodontia Fente palatine - anomalies carpotarsales - oligodontie Fisura palatina - anomalías carpotarsales - oligodoncia Gaumenspalte - Stapes-Fixation - Oligodontie Schisi palatina - anomalie carpotarsali - oligodonzia hrdo:pat_id_19468 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 605850 neant E72.5 243343 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 DMG dehydrogenase deficiency DMGDH deficiency Deficit di DMG deidrogenasi Deficit di DMGDH Déficit de DMG deshidrogenasa Déficit en DMG déshydrogénase Déficit en déshydrogénase de la diméthylglycine Deficit di dimetilglicina deidrogenasi Deficiência de dimetilglicina desidrogenase Dimethylglycin-Dehydrogenase-Mangel Dimethylglycine dehydrogenase deficiency Déficit de dimetilglicina deshidrogenasa Déficit en diméthylglycine déshydrogénase hrdo:pat_id_19469 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta C537957 10000746 neant O26.6 243367 91162000 C1455728 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease AFLP AFLP AFLP AFLP SHAG Acute fatty liver of pregnancy Fegato grasso acuto della gravidanza Fettleber, akute, der Schwangerschaft Fígado gordo agudo da gravidez Hígado graso agudo del embarazo Stéatose hépatique aigüe gravidique hrdo:pat_id_19470 243377 disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Diabete mellito, tipo 1 Diabetes mellitus Typ1 Diabetes mellitus tipo 1 Diabetes mellitus tipo 1 Diabetes mellitus type 1 Diabète sucré de type 1 hrdo:pat_id_19471 243761 disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Essential hypertension Hipertensión esencial Hipertensão essencial Hypertension essentielle Hypertension, essentielle Ipertensione essenziale hrdo:pat_id_19473 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D017359 10049058 neant O14.2 244242 95605009 C0162739 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease Emolisi - aumento degli enzimi epatici - diminuzione delle piastrine Hemolysis, elevated liver enzymes, low platelets in pregnancy Hemolysis-elevated liver enzymes-low platelets syndrome Hemólisis - enzimas hepáticas elevadas - trombocitopenia Hémolyse, enzymes hépatiques élevées, thrombocytopénie pendant la grossesse HELLP syndrome HELLP-Synrom Sindrome HELLP Syndrome HELLP Síndrome HELLP Síndrome HELLP hrdo:pat_id_19474 244275 particular clinical situation in a disease or syndrome De novo thrombotic microangiopathy after kidney transplantation De-novo thrombotische Mikroangiopathie nach Nierentransplantation Microangiopathie thrombotique de novo après transplantation rénale Microangiopatia trombotica de novo successiva a trapianto renale Microangiopatia trombótica de novo após transplante renal Microangiopatía trombótica de novo tras trasplante renal hrdo:pat_id_19476 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 244283 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown BASM syndrome Sindrome BASM Syndrome BASM Síndrome BASM Atresia biliar con síndrome de malformación esplénica Atresia biliare associata a sindrome da malformazione splenica Atrésie biliaire avec malformation splénique Biliary atresia with splenic malformation syndrome Gallengangatresie - Milzfehlbildung Síndrome atresia biliar - malformação esplénica hrdo:pat_id_19477 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 612286 612287 neant 244305 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dominant hypophosphatemia with nephrolithiasis or osteoporosis Hipofosfatemia dominante com nefrolitíase ou osteoporose Hipofosfatemia dominante con nefrolitiasis u osteoporosis Hypophosphatämie, dominante, mit Nephrolithiasis oder Osteoporose Hypophosphatémie dominante avec néphrolithiase ou ostéoporose Ipofosfatemia dominante con osteoporosi o nefrolitiasi hrdo:pat_id_19478 612015 neant E77.8 244310 disease Anomalie congénitale de la glycosylation type 1n Anomalie congénitale de la glycosylation type In CDG (Congenital Disorder of Glycosylation) Typ In CDG syndrome type In CDG-In CDG-In CDG-In CDG-In CDG1N CDG1N CDG1N CDG1N CDG1N Carbohydrate deficient glycoprotein syndrome type In Congenital disorder of glycosylation type 1n Congenital disorder of glycosylation type In Deficit di Man5GlcNAc2-PP-Dol flippasi Disturbo congenito della glicosilazione, tipo 1n Disturbo congenito della glicosilazione, tipo In Déficit de Man5GlcNAc2-PP-Dol flipasa Déficit en Man5GlcNAc2-PP-Dol flippase Kohlenhydrat-defizientes Glykoprotein-Syndrom In Kongenitaler Defekt der Glycoproteinbiosynthese Typ In Man5GlcNAc2-PP-Dol flippase deficiency Sindrome CDG, tipo In Sindrome da glicoproteine carenti in carboidrati, tipo In Syndrome CDG type In Syndrome des glycoprotéines déficientes en hydrates de carbone type In Síndrome CDG tipo In Síndrome de glicoproteínas deficientes en carbohidratos tipo In Trastorno congénito de la glicosilación tipo 1n Trastorno congénito de la glicosilación tipo In CDG syndrome type In CDG-Syndrom Typ In RFT1-CDG syndrome Sindrome RFT1-CDG Syndrome CDG-RFT1 Síndrome RFT1-CDG hrdo:pat_id_1949 181180 2013 malformation syndrome Say-Barber-Hobbs syndrome Say-Barber-Hobbs, síndrome de Say-Barber-Hobbs-Syndrom Sindrome di Say-Barber-Hobbs Syndrome de Say-Barber-Hobbs Síndrome de Say-Barber-Hobbs Síndrome de Say-Barber-Hobbs Cleft palate - large ears - small head Fenda palatina - Pavilhões auriculares grandes - microcefalia Fente palatine - grandes oreilles - petite taille Fisura palatina - orejas grandes - talla pequeña Gaumenspalte - große Ohren - Kleinwuchs Palatoschisi - orecchie grandi - bassa statura hrdo:pat_id_1950 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 119550 Q87.8 2016 403772000 C0795898 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cleft palate-lateral synechia syndrome Fente palatine - synéchies latérales Gaumenspalte-Laterale Synechie-Syndrom Sindrome palatoschisi-sinechie laterali Síndrome de fisura palatina - sinequias laterales Síndrome fenda lateral do palato - sinéquias hrdo:pat_id_1951 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance C537489 neant Q76.7 2017 54008006 C0265696 C2931507 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Celosomia toracica Celosomia torácica Celossomia torácica Cleft sternum Sternum bifidum Sternum bifidum Fenda do esterno Fente sternale Hendidura esternal Schisi sternale Sternal cleft Sternum-Spalte hrdo:pat_id_19510 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant T56.1 247165 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Acrodinia infantil Acrodinia infantile Acrodynie infantile Empoisonnement infantile au mercure Enfermedad de Feer Enfermedad de Pink Enfermedad de Swift Enfermedad de Swift-Feer Envenenamiento infantil por mercurio Eritroedema polineuritico Erythroedema polyneuritis Erythroedème épidémique Feer disease Hydrargyrie infantile Hydrargyrisme infantile Infantile acrodynia Infantile mercury intoxication Intossicazione infantile da mercurio Maladie de Feer Maladie de Swift Maladie de Swift-Feer Maladie rose Malattia di Feer Malattia di Pink Malattia di Swift Malattia di Swift-Feer Pink disease Polynévrite érythroedème Swift disease Swift-Feer disease Avvelenamento infantile da mercurio Infantile mercury poisoning Infantile mercury poisoning Infantile mercury poisoning Intoxicación infantil por mercurio Intoxication infantile au mercure hrdo:pat_id_19511 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 247198 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 PCCA PCCA PCCA PCCA Atrofia cerebello-cerebrale progressiva Atrofia cerebral y cerebelosa progresiva Atrophie cérébello-cérebrale progressive Progressive cerebello-cerebral atrophy Progressive cerebello-cerebral atrophy Progressive cerebello-cerebral atrophy hrdo:pat_id_19512 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D002292 neant C64 247203 128669006 C1266044 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease BDC BDC BDC BDC Bellini carcinoma Bellini duct carcinoma CDC CDC CDC CDC Carcinoma de Bellini Carcinoma de los conductos de Bellini Carcinoma dei dotti di Bellini Carcinoma di Bellini Carcinoma tubulocistico Carcinoma tubuloquístico Carcinome de Bellini Carcinome des tubes de Bellini Carcinoma de los túbulos colectores Carcinoma dei dotti collettori Carcinome des tubes collecteurs Collecting duct carcinoma Collecting duct carcinoma Collecting duct carcinoma hrdo:pat_id_19513 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 247234 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 SAOA SAOA SAOA SAOA Atassia sporadica ad eziologia non nota e a esordio nell'età adulta Ataxia esporádica de aparición en el adulto de etiología desconocida Ataxie de l'adulte sporadique d'étiologie inconnue Sporadic adult-onset ataxia of unknown etiology Sporadic adult-onset ataxia of unknown etiology Sporadic adult-onset ataxia of unknown etiology hrdo:pat_id_19514 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 247239 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes Atassia degenerativa non ereditaria Ataxia degenerativa no hereditaria Ataxie dégénérative non héréditaire Non-hereditary degenerative ataxia Non-hereditary degenerative ataxia Non-hereditary degenerative ataxia hrdo:pat_id_19515 247242 group of phenomes Acquired ataxia Acquired ataxia Acquired ataxia Atassia acquisita Ataxia adquirida Ataxie acquise hrdo:pat_id_19516 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 247245 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Siderosi superficiale Siderosis superficial Sidérose superficielle Superficial siderosis Superficial siderosis Superficial siderosis hrdo:pat_id_19517 Variabel Variabile Variable Variable Variable Variable Variável neant A22.1 247257 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Enfermedad respiratoria por inhalación de ántrax Inhalation anthrax disease Malattia respiratoria da antrace Respiratory anthrax disease Enfermedad por inhalación de ántrax Inhalation anthrax disease Inhalation anthrax disease Inhalational anthrax Maladie du charbon par inhalation Malattia da inalazione di antrace hrdo:pat_id_19518 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 239300 614749 neant 247262 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 HPMR HPMR HPMR HPMR HPMR Mabry syndrome Mabry-Syndrom Sindrome di Mabry Syndrome de Mabry Síndrome de Mabry Hyperphosphatasia intellectual deficiency syndrome Hyperphosphatasia mental retardation syndrome Hyperphosphatasie-Intelligenzminderung-Syndrom Sindrome iperfosfatasia-deficit cognitivo Syndrome d'hyperphosphatasie déficit intellectuel Síndrome de hiperfosfatasia con déficit intelectual hrdo:pat_id_19519 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 614204 neant L40.1 247353 238612002 C0343055 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 DITRA DITRA Deficiency of the IL-36R antagonist Deficiency of the IL-36Ra Déficit en IL-36Ra Déficit en antagoniste d'IL-36R GPP GPP GPP GPP PPG PPG Generalized pustular psoriasis Generalized pustular psoriasis Generalized pustular psoriasis Psoriasi pustolosa generalizzata Psoriasis pustuleux généralisé Psoriasis pustulosa generalizada hrdo:pat_id_1952 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 228200 C537918 10068448 Q72.8 2019 C2363814 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Complejo FFU Complesso FFU Complexe FFU Deficiencia femoral focal proximal Difetto femorale focale prossimale Disostosi femore-fibula-ulna Disostosis fémur-peroné-cúbito Dysostose fémoro-péronéo-cubitale Déficit focal fémoral proximal FFU complex FFU, síndrome FFU-Komplex Femur-Fibula-Ulna-Dysostose Femur-Fibula-Ulna-Syndrom Femur-fibula-ulna dysostosis Femur-fibula-ulna syndrome PFFD PFFD PFFD PFFD (Proximal Focal Femoral Deficiency) Proximal focal femoral deficiency Proximaler Femurdefekt Sindrome femore-fibula-ulna Syndrome fémoro-péronéo-cubital Síndrome FFU Síndrome fémur-peroné-cúbito Complejo fémur-peroné-cúbito Complesso femore-fibula-ulna Complexe fémoro-péronéo-cubital Femur-Fibula-Ulna-Komplex Femur-fibula-ulna complex Síndrome fémur-perónio-cúbito hrdo:pat_id_19521 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant D75.1 247378 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Autosomal recessive secondary erythrocytosis not associated with VHL gene Autosomal recessive secondary erythrocytosis, non Chuvash type Autosomal recessive secondary polycythemia, non Chuvash type Eritrocitosi secondaria, autosomica recessiva, non associata al gene VHL Eritrocitosi secondaria, autosomica recessiva, tipo non Chuvash Eritrocitosis secundaria autosómica recesiva no asociada al gen VHL Eritrocitosis secundaria autosómica recesiva tipo no-Chuvash Erythrocytose secondaire autosomique récessive non associée à VHL Erythrocytose secondaire autosomique récessive type non Chuvash Policitemia secondaria, autosomica recessiva, tipo non Chuvash Policitemia secundaria autosómica recesiva tipo no-Chuvash Polycythémie secondaire autosomique récessive type non Chuvash Autosomal recessive secondary polycythemia not associated with VHL gene Autosomal recessive secondary polycythemia not associated with VHL gene Autosomal recessive secondary polycythemia not associated with VHL gene Policitemia secondaria, autosomica recessiva, non associata al gene VHL Policitemia secundaria autosómica recesiva no asociada al gen VHL Polycythémie secondaire autosomique récessive non associée à VHL hrdo:pat_id_19522 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 609820 611783 neant D75.1 247511 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Autosomal dominant secondary erythrocytosis Eritrocitosi secondaria, autosomica dominante Eritrocitosis secundaria autosómica dominante Erythrocytose secondaire autosomique dominante Autosomal dominant secondary polycythemia Autosomal dominant secondary polycythemia Autosomal dominant secondary polycythemia Policitemia secondaria, autosomica dominante Policitemia secundaria autosómica dominante Polycythémie secondaire autosomique dominante hrdo:pat_id_19523 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 300455 neant 247522 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Discinesia ciliar primaria - retinosis pigmentaria Discinesia ciliare primitiva - retinite pigmentosa Dyskinésie ciliaire primitive - rétinite pigmentaire Primary ciliary dyskinesia - retinitis pigmentosa Primary ciliary dyskinesia - retinitis pigmentosa Primary ciliary dyskinesia - retinitis pigmentosa hrdo:pat_id_19524 Variabel Variabile Variable Variable Variable Variable Variável 215700 neant E72.2 247525 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 ASS deficiency Argininosuccinate synthase deficiency Argininosuccinate synthetase deficiency Argininosuccinic acid synthase deficiency Argininosuccinic acid synthetase deficiency CTLN1 CTLN1 CTLN1 CTLN1 Citrulinemia clásica Citrulinemia tipo 1 Citrullinemia classica Citrullinemia type 1 Citrullinemia, tipo 1 Citrullinémie classique Citrullinémie type 1 Classic citrullinemia Deficit di ASS Deficit di acido argininosuccinico sintasi Deficit di acido argininosuccinico sintetasi Deficit di argininosuccinato sintasi Deficit di argininosuccinato sintetasi Déficit de ASS Déficit de argininosuccinato sintasa Déficit de argininosuccinato sintetasa Déficit de ácido argininosuccínico sintasa Déficit de ácido argininosuccínico sintetasa Déficit en ASS Déficit en synthase de l'acide argininosuccinique Déficit en synthase de l'argininosuccinate Déficit en synthétase de l'acide argininosuccinique Déficit en synthétase de l'argininosuccinate Citrulinemia tipo I Citrullinemia type I Citrullinemia type I Citrullinemia type I Citrullinemia, tipo I Citrullinémie type I hrdo:pat_id_19525 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 215700 neant E72.2 247546 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Acute neonatal citrullinemia type 1 Citrulinemia clásica tipo 1 Citrulinemia neonatal aguda tipo 1 Citrulinemia tipo I clásica tipo I Citrullinemia classica, tipo 1 Citrullinemia classica, tipo I Citrullinemia neonatale acuta, tipo 1 Citrullinémie de type 1 classique Citrullinémie de type I classique Citrullinémie type 1 néonatale aigüe Classic citrullinemia type 1 Classic citrullinemia type I Acute neonatal citrullinemia type I Acute neonatal citrullinemia type I Acute neonatal citrullinemia type I Citrulinemia neonatal aguda tipo I Citrullinemia neonatale acuta, tipo I Citrullinémie type I néonatale aigüe hrdo:pat_id_19526 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 215700 neant E72.2 247573 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Adult-onset citrullinemia type 1 Citrulinemia de inicio tardío tipo 1 Citrulinemia de inicio tardío tipo I Citrulinemia del adulto tipo 1 Citrullinemia a esordio nell'età adulta, tipo 1 Citrullinemia a esordio tardivo, tipo 1 Citrullinemia a esordio tardivo, tipo I Citrullinémie de type 1 à début tardif Citrullinémie de type I à début tardif Citrullinémie type 1 de l'adulte Late-onset citrullinemia type 1 Late-onset citrullinemia type I Adult-onset citrullinemia type I Adult-onset citrullinemia type I Adult-onset citrullinemia type I Citrulinemia del adulto tipo I Citrullinemia a esordio nell'età adulta, tipo I Citrullinémie type I de l'adulte hrdo:pat_id_19527 Variabel Variabile Variable Variable Variable Variable Variável 603471 605814 neant E72.2 247582 429735007 C1997910 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Citrin deficiency Citrin deficiency Citrin deficiency Deficit di citrina Déficit de citrina Déficit en citrine hrdo:pat_id_19528 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 603471 neant E72.2 247585 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Adult-onset citrin deficiency Adult-onset citrullinemia type 2 CTLN2 CTLN2 CTLN2 CTLN2 Citrulinemia tipo 2 Citrulinemia tipo 2 del adulto Citrullinemia a esordio nell'età adulta, tipo 2 Citrullinemia type 2 Citrullinemia, tipo 2 Citrullinémie de type 2 Citrullinémie type 2 de l'adulte Deficit di citrina a esordio nell'età adulta Déficit de citrina del adulto Déficit en citrine de l'adulte Citrulinemia tipo II Citrullinemia type II Citrullinemia type II Citrullinemia, tipo II Citrullinémie type II Zitrullinämie Typ II hrdo:pat_id_19529 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 605814 neant E72.2 247598 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Colestasi intraepatica neonatale dovuta a deficit di citrina NICCD NICCD NICCD NICCD Neonatal intrahepatic cholestasis caused by citrin deficiency Cholestase intrahépatique néonatale due au déficit en citrine Colestasi intraepatica neonatale da deficit di citrina Colestasis intrahepática neonatal debida a déficit de citrina Neonatal intrahepatic cholestasis due to citrin deficiency Neonatal intrahepatic cholestasis due to citrin deficiency Neonatal intrahepatic cholestasis due to citrin deficiency hrdo:pat_id_1953 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 228520 614524 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Fibrochondrogenesis Q77.7 2021 17144009 C0265282 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Fibrochondrogenesie Fibrochondrogenesis Fibrochondrogenèse Fibrocondrogenesi Fibrocondrogenesis Fibrocondrogénese hrdo:pat_id_19530 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 606353 C536416 neant G12.2 247604 C1853396 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown ELP juvenil Juvenile PLS PLS giovanile PLS juvenil PLS juvénile SLP juvénile Esclerosis lateral primaria juvenil Juvenile primary lateral sclerosis Juvenile primary lateral sclerosis Lateralsklerose, juvenile primäre Sclerosi laterale primitiva giovanile Sclérose latérale primitive juvénile hrdo:pat_id_19531 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 241500 neant E83.3 247623 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Enfermedad de Rathburn perinatal letal Fosfoetanolaminuria perinatal letal Fosfoetanolaminuria perinatale letale Maladie de Rathburn périnatale létale Malattia di Rathburn perinatale letale Perinatal lethal Rathburn disease Perinatal lethal phosphoethanolaminuria Phosphoéthanolaminurie périnatale létale Hipofosfatasia perinatal letal Hypophosphatasie périnatale létale Ipofosfatasia perinatale letale Perinatal lethal hypophosphatasia Perinatal lethal hypophosphatasia Perinatal lethal hypophosphatasia hrdo:pat_id_19532 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant E83.3 247638 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Enfermedad de Rathburn prenatal benigna Fosfoetanolaminuria prenatal benigna Fosfoetanolaminuria prenatale benigna Maladie de Rathburn prénatale benine Malattia di Rathburn prenatale benigna Phosphoéthanolaminurie prénatale benine Prenatal benign Rathburn disease Prenatal benign phosphoethanolaminuria Hipofosfatasia prenatal benigna Hypophosphatasie prénatale benine Ipofosfatasia prenatale benigna Prenatal benign hypophosphatasia Prenatal benign hypophosphatasia Prenatal benign hypophosphatasia hrdo:pat_id_19533 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 241500 neant E83.3 247651 55236002 C0268412 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Enfermedad de Rathburn infantil Fosfoetanolaminuria infantil Fosfoetanolaminuria infantile Infantile Rathburn disease Infantile phosphoethanolaminuria Maladie de Rathburn infantile Malattia di Rathburn infantile Phosphoéthanolaminurie infantile Hipofosfatasia infantil Hypophosphatasie infantile Infantile hypophosphatasia Infantile hypophosphatasia Infantile hypophosphatasia Ipofosfatasia infantile hrdo:pat_id_19534 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 241510 neant E83.3 247667 30174008 C0220743 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Childhood-onset Rathburn disease Childhood-onset phosphoethanolaminuria Enfermedad de Rathburn de la infancia Fosfoetanolaminuria a esordio infantile Fosfoetanolaminuria de la infancia Maladie de Rathburn de l'enfant Malattia di Rathburn a esordio infantile Phosphoéthanolaminurie de l'enfant Childhood-onset hypophosphatasia Childhood-onset hypophosphatasia Childhood-onset hypophosphatasia Hipofosfatasia de la infancia Hypophosphatasie de l'enfant Ipofosfatasia a esordio infantile hrdo:pat_id_19535 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 146300 neant E83.3 247676 20756002 C0268413 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Adult Rathburn disease Adult phosphoethanolaminuria Enfermedad de Rathburn del adulto Fosfoetanolaminuria del adulto Fosfoetanolaminuria dell'adulto Maladie de Rathburn de l'adulte Malattia di Rathburn dell'adulto Phosphoéthanolaminurie de l'adulte Adult hypophosphatasia Adult hypophosphatasia Adult hypophosphatasia Hipofosfatasia del adulto Hypophosphatasie de l'adulte Ipofosfatasia dell'adulto hrdo:pat_id_19536 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 146300 neant E83.3 247685 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Odontohipofosfatasia Odontohypophosphatasia Odontohypophosphatasia Odontohypophosphatasia Odontohypophosphatasie Odontoipofosfatasia hrdo:pat_id_19537 247691 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate group of phenomes RVCL RVCL RVCL RVCL Retinal vasculopathy and cerebral leukodystrophy Retinal vasculopathy and cerebral leukodystrophy Retinal vasculopathy and cerebral leukodystrophy Vasculopathie rétinienne avec leucodystrophie cérébrale Vasculopatia retinica e leucodistrofia cerebrale Vasculopatía retiniana y leucodistrofia cerebral hrdo:pat_id_19538 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 171400 D018813 neant D44.8 247698 C0025268 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 MEN2A MEN2A MEN2A MEN2A MEN2A NEM2A PTC syndrome PTC-Syndrom Sindrome PTC Sindrome di Sipple Sipple syndrome Sipple-Syndrom Syndrome PTC Syndrome de Sipple Síndrome PTC Síndrome de Sipple Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2A Multiple endokrine Neoplasie Typ 2A Neoplasia endocrina multipla, tipo 2A Neoplasia endocrina múltiple tipo 2A Néoplasie endocrinienne multiple type 2A hrdo:pat_id_19539 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 162300 D018814 10056420 neant D44.8 247709 C0025269 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown MEN2B MEN2B MEN2B MEN2B MEN2B Multiple endocrine neoplasia type 3 Multiple endokrine Neoplasie Typ 3 NEM2B NEM2B Neoplasia endocrina multipla, tipo 3 Neoplasia endocrina múltiple tipo 3 Néoplasie endocrinienne multiple type 3 Sindrome di Wagenmann-Froboese Syndrome de Wagenmann-Froboese Síndrome de Wagenmann-Froboese Wagenmann-Froboese syndrome Wagenmann-Froboese-Syndrom Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2B Multiple endokrine Neoplasie Typ 2B Neoplasia endocrina multipla, tipo 2B Neoplasia endocrina múltiple tipo 2B Néoplasie endocrinienne multiple type 2B hrdo:pat_id_1954 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 226000 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Endomyocardial+fibroelastosis%5Bti%5D+OR+endocardial+fibroelastosis%5Bmajr%5D I42.4 2022 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Dominant lié à l'X Dominante legata all'X Dominante ligado al X Esporádica Esporádico Ligado ao X dominante Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X Sporadic Sporadic Sporadica Sporadique Sporadisch X-chromosomal-dominant X-chromosomal-rezessiv X-linked dominant X-linked dominant X-linked recessive X-linked recessive disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Endomyocardial fibroelastosis Fibroelastose endomiocárdica Fibroelastose, endomyokardiale Fibroelastosi endomiocardica Fibroelastosis endomiocárdica Fibroélastose endomyocardique hrdo:pat_id_19540 247718 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease IMAM IMAM IMAM IMAM MIAM Inflammatory myopathy with abundant macrophages Inflammatory myopathy with abundant macrophages Inflammatory myopathy with abundant macrophages Miopatia infiammatoria con abbondanza di macrofagi Miopatía inflamatoria con abundancia de macrófagos Myopathie inflammatoire avec abondance de macrophages hrdo:pat_id_19541 247724 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Idiopathic eosinophilic myositis Idiopathic eosinophilic myositis Idiopathic eosinophilic myositis Miosite eosinofila idiopatica Miositis eosinofílica idiopática Myosite éosinophile idiopathique hrdo:pat_id_19542 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 247762 400102008 C1260965 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Lipoblastoma Lipoblastoma Lipoblastoma Lipoblastoma Lipoblastoma Lipoblastome hrdo:pat_id_19543 247765 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-dominant X-chromosomal-rezessiv X-linked dominant X-linked dominant X-linked recessive X-linked recessive group of phenomes Atassia cerebellare legata all'X Ataxia cerebelosa ligada al X Ataxie cérébelleuse liée à l'X X-linked cerebellar ataxia X-linked cerebellar ataxia X-linked cerebellar ataxia hrdo:pat_id_19544 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 158330 neant Q51.8 247768 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Atypical MRKH syndrome Atypical Rokitansky syndrome Deficit di WNT4 Déficit de WNT4 Déficit en WNT4 MRKH-Syndrom, atypisches Rokitansky-Syndrom, atypisches Sindrome MRKH atipica Sindrome di Rokitansky atipica Syndrome MRKH atypique Syndrome de Rokitansky atypique Síndrome MRKH atípico Síndrome de Rokitansky atípico WNT4 deficiency WNT4-Mangel Atypical Mayer-Rokitansky-Küster-Hauser syndrome Atypical Mayer-Rokitansky-Küster-Hauser syndrome Mayer-Rokitansky-Küster-Hauser-Syndrom, atypisches Sindrome atipica di Mayer-Rokitansky-Küster-Hauser Syndrome de Mayer-Rokitansky-Küster-Hauser atypique Síndrome de Mayer-Rokitansky-Küster-Hauser atípico hrdo:pat_id_19545 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 277000 neant Q51.8 247775 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Classic MRKH syndrome Classic Rokitansky syndrome MRKH synrome type 1 Mayer-Rokitansky-Küster-Hauser syndrome type 1 Rokitansky sequence Secuencia de Rokitansky Sequenza di Rokitansky Sindrome MRKH classica Sindrome MRKH, tipo 1 Sindrome di Mayer-Rokitansky-Küster-Hauser, tipo 1 Sindrome di Rokitansky classica Syndrome MRKH classique Syndrome MRKH type 1 Syndrome de Mayer-Rokitansky-Küster-Hauser type 1 Syndrome de Rokitansky classique Séquence de Rokitansky Síndrome MRKH clásico Síndrome MRKH tipo 1 Síndrome de Mayer-Rokitansky-Küster-Hauser tipo 1 Síndrome de Rokitansky clásico Classic Mayer-Rokitansky-Küster-Hauser syndrome Classic Mayer-Rokitansky-Küster-Hauser syndrome Classic Mayer-Rokitansky-Küster-Hauser syndrome Sindrome di Mayer-Rokitansky-Küster-Hauser, forma classica Syndrome de Mayer-Rokitansky-Küster-Hauser classique Síndrome de Mayer-Rokitansky-Küster-Hauser clásico hrdo:pat_id_19546 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis neant E83.1 247790 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 FTH1-associated iron overload Sobrecarga de hierro asociada a FTH1 Sovraccarico di ferro associato a FTH1 FTH1-related iron overload FTH1-related iron overload FTH1-related iron overload Sobrecarga de hierro ligada a FTH1 Sovraccarico di ferro legato a FTH1 Surcharge en fer liée à FTH1 hrdo:pat_id_19548 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 612018 neant 247794 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cataracte juvénile - microcornée - glucosurie rénale Catarata juvenil - microcórnea - glucosuria renal Cataratta giovanile - microcornea - glicosuria renale Juvenile cataract - microcornea - renal glucosuria Juvenile cataract - microcornea - renal glucosuria Juvenile cataract - microcornea - renal glucosuria hrdo:pat_id_19549 608456 neant D12.6 247798 etiological subtype AFAP legata a MUTYH FAP attenuata legata a MUTYH MUTYH-abhängige AFAP MUTYH-abhängige attenuierte FAP MUTYH-related AFAP MUTYH-related attenuated FAP MUTYH-related attenuated familial polyposis coli PAF atenuada ligada a MUTYH PAF attenuée liée à MUTYH PAFA ligada a MUTYH PAFA liée à MUTYH Poliposi rettocolica familiare attenuata legata a MUTYH Poliposis cólica familiar atenuada ligada a MUTYH Polypose rectocolique familiale atténuée liée à MUTYH Polyposis coli, MUTYH-abhängige attenuierte, familiäre MUTYH-abhängige adenomatöse attenuierte familiäre Polyposis MUTYH-related attenuated familial adenomatous polyposis MUTYH-related attenuated familial adenomatous polyposis Poliposi adenomatosa familiare attenuata legata a MUTYH Poliposis adenomatosa familiar atenuada ligada a MUTYH Polypose adénomateuse familiale atténuée liée à MUTYH hrdo:pat_id_1955 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 135300 605544 609955 611010 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Gingival+fibromatosis+NOT+Fibromatosis%2C+Gingival/di K06.1 2024 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Autosomal dominant gingival fibromatosis Autosomal dominant gingival hyperplasia Fibromatose gingivale autosomique dominante Fibromatosis gingival autosómica dominante Hereditary gingival hyperplasia Hiperplasia gingival autosómica dominante Hiperplasia gingival hereditaria Hyperplasie gingivale autosomique dominante Hyperplasie gingivale héréditaire Fibromatose gengival tipo dominante Fibromatose gingivale héréditaire Fibromatose, gingivale, dominante Form Fibromatosi gengivale a trasmissione dominante Fibromatosis gingival hereditaria Hereditary gingival fibromatosis hrdo:pat_id_19550 175100 neant D12.6 247806 etiological subtype AFAP legata a APC APC-abhängige AFAP APC-abhängige attenuierte FAP APC-related AFAP APC-related attenuated FAP APC-related attenuated familial polyposis coli FAP attenuata legata a APC PAF atenuada ligada a APC PAF attenuée liée à APC PAFA ligada a APC PAFA liée à APC Poliposi rettolica familiare attenuata legata a APC Poliposis cólica familiar atenuada ligada a APC Polypose rectocolique familiale atténuée liée à APC Polyposis coli, APC-abhängige attenuierte, familiäre APC-abhängige adenomatöse attenuierte familiäre Polyposis APC-related attenuated familial adenomatous polyposis APC-related attenuated familial adenomatous polyposis Poliposi adenomatosa familiare attenuata legata a APC Poliposis adenomatosa familiar atenuada ligada a APC Polypose adénomateuse familiale atténuée liée à APC hrdo:pat_id_19551 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 247815 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Disturbo perossisomiale lieve da deficit di PEX10 Maladie péroxismale modérée due au déficit en PEX10 Mild peroxismal disorder due to PEX10 deficiency Trastorno peroxisomal moderado por déficit de PEX10 Atassia autosomica recessiva da deficit di PEX10 Ataxia autosómica recesiva por déficit de PEX10 Ataxie autosomique récessive due au déficit en PEX10 Autosomal recessive ataxia due to PEX10 deficiency Autosomal recessive ataxia due to PEX10 deficiency Autosomal recessive ataxia due to PEX10 deficiency hrdo:pat_id_19552 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613573 neant 247820 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 EDSS EDSS EDSS EDSS EDSS1 EDSS1 EDSS1 EDSS1 Displasia ectodérmica - sindactilia Dysplasie ectodermique - syndactylie Ectodermal dysplasia - syndactyly syndrome Ectodermal dysplasia - syndactyly syndrome Ectodermal dysplasia - syndactyly syndrome Sindrome displasia ectodermica-sindattilia hrdo:pat_id_19553 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613576 neant 247827 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 EDCS EDCS EDCS EDCS EDSS2 EDSS2 EDSS2 EDSS2 Displasia ectodérmica - sindactilia cutánea Dysplasie ectodermique - syndactylie cutanée Ectodermal dysplasia - cutaneous syndactyly syndrome Ectodermal dysplasia - cutaneous syndactyly syndrome Ectodermal dysplasia - cutaneous syndactyly syndrome Sindrome displasia ectodermica-sindattilia cutanea hrdo:pat_id_19554 Variabel Variabile Variable Variable Variable Variable Variável 613587 neant H35.5 247834 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown OCMD OCMD OMD OMD OMD OMD OMD Distrofia macular oculta Distrofia maculare occulta Dystrophie maculaire occulte Makuladystrophie, okkulte Occult macular dystrophy Occult macular dystrophy hrdo:pat_id_19555 neant M08.4 247839 etiological subtype Arthrite chronique pauci-articulaire avec anticorps anti-nucléaire Arthrite chronique pauci-articulaire avec facteurs anti-nucléaire Artrite pauciarticolare cronica con anticorpi antinucleari Artritis crónica pauciarticular con anticuerpos antinucleares Oligoarthrite juvénile avec facteurs anti-nucléaire Pauciarticular chronic arthritis with anti-nuclear antibodies Artrite oligoarticolare giovanile con anticorpi antinucleari Artritis juvenil oligoarticular con anticuerpos antinucleares Oligoarthrite juvénile avec anticorps anti-noyaux Oligoarticular juvenile arthritis with anti-nuclear antibodies Oligoarticular juvenile arthritis with anti-nuclear antibodies Oligoarticular juvenile arthritis with anti-nuclear antibodies hrdo:pat_id_19556 neant M08.4 247846 etiological subtype Arthrite chronique pauci-articulaire sans anticorps anti-nucléaire Arthrite chronique pauci-articulaire sans facteurs anti-nucléaire Artrite pauciarticolare cronica senza anticorpi antinucleari Artritis crónica pauciarticular sin anticuerpos antinucleares Oligoarthrite juvénile sans facteurs anti-nucléaire Pauciarticular chronic arthritis without anti-nuclear antibodies Artrite oligoarticolare giovanile senza anticorpi antinucleari Artritis juvenil oligoarticular sin anticuerpos antinucleares Oligoarthrite juvénile sans anticorps anti-noyaux Oligoarticular juvenile arthritis without anti-nuclear antibodies Oligoarticular juvenile arthritis without anti-nuclear antibodies Oligoarticular juvenile arthritis without anti-nuclear antibodies hrdo:pat_id_19557 neant M08.3 247854 etiological subtype Poliartrite con anticorpi antinucleari e senza fattore reumatoide Poliartritis con anticuerpos antinucleares y sin factor reumatoide Polyarthrite facteur rhumatoïde négatif avec anticorps anti-noyaux Polyarthrite facteur rhumatoïde négatif avec facteurs anti-nucléraires Polyarthrite juvénile sans facteur rhumatoïde avec facteurs anti-nucléaire Polyarthritis without rheumatoid factor with anti-nuclear antibodies Juvenile rheumatoid factor-negative polyarthritis with anti-nuclear antibodies Juvenile rheumatoid factor-negative polyarthritis with anti-nuclear antibodies Juvenile rheumatoid factor-negative polyarthritis with anti-nuclear antibodies Poliartrite giovanile con fattore reumatoide negativo e anticorpi antinucleari Poliartritis juvenil con anticuerpos antinucleares y factor reumatoide negativo Polyarthrite juvénile sans facteur rhumatoïde avec anticorps anti-noyaux hrdo:pat_id_19558 neant M08.3 247861 etiological subtype Poliartrite senza fattore reumatoide e anticorpi antinucleari Poliartritis sin anticuerpos antinucleares y sin factor reumatoide Polyarthrite facteur rhumatoïde négatif sans anticorps anti-noyaux Polyarthrite facteur rhumatoïde négatif sans facteurs anti-nucléraires Polyarthrite juvénile sans facteur rhumatoïde sans facteurs anti-nucléaire Polyarthritis without rheumatoid factor without anti-nuclear antibodies Juvenile rheumatoid factor-negative polyarthritis without anti-nuclear antibodies Juvenile rheumatoid factor-negative polyarthritis without anti-nuclear antibodies Juvenile rheumatoid factor-negative polyarthritis without anti-nuclear antibodies Poliartrite giovanile con fattore reumatoide negativo e senza anticorpi antinucleari Poliartritis juvenil sin anticuerpos antinucleares y factor reumatoide negativo Polyarthrite juvénile sans facteur rhumatoïde sans anticorps anti-noyaux hrdo:pat_id_19559 611762 neant 247868 disease FCAS2 FCAS2 FCAS2 FCAS2 Familial cold autoinflammatory syndrome 2 Familial cold autoinflammatory syndrome 2 NAPS12 NAPS12 NAPS12 NAPS12 Sindrome autoinfiammatoria familiare da freddo, tipo 2 Síndrome autoinflamatorio familiar por frío tipo 2 NALP12-associated hereditary periodic fever syndrome NALP12-associated hereditary periodic fever syndrome NLRP12-associated hereditary periodic fever syndrome Sindrome da febbre periodica ereditaria associata a NALP12 Syndrome de fièvre périodique héréditaire lié à NLRP12 Síndrome de fiebre periódica hereditaria asociada a NALP12 hrdo:pat_id_1956 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 228560 2025 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Fibromatose gengival - dismorfias facial Fibromatose gingivale - dysmorphie faciale Fibromatosi gengivale - dismorfismi facciali Fibromatosis gingival - dismorfia facial Gingival fibromatosis - facial dysmorphism Gingivale Fibromatose - Gesichtsdysmorphien hrdo:pat_id_19560 193200 607836 608391 608392 609400 neant 247871 disease Enfermedad autoinmune asociada al vitíligo Maladie autoimmune associée au vitiligo Malattia autoimmune associata a vitiligine Vitiligo-associated autoimmune disease Vitiligo-associated autoimmune disease Vitiligo-associated autoimmune disease hrdo:pat_id_19561 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 167100 259100 614441 D010004 neant M89.4 248095 C0029411 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Idiopathic hypertrophic osteoarthropathy OHP Osteoartropatia ipertrofica idiopatica Osteoartropatía hipertrófica idiopática Ostéoarthropathie hypertophique idiopathique PHO PHO PHO PHO PHO Osteoarthropathie, hypertrophe primäre Osteoartropatia hipertrófica primária Osteoartropatia ipertrofica primitiva Osteoartropatía hipertrófica primaria Ostéoarthropathie hypertophique primitive Primary hypertrophic osteoarthropathy hrdo:pat_id_19562 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 143100 neant G10 248111 230299004 C0751208 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Chorée de Huntington juvénile JHD JHD JHD JHD Juvenile Huntington chorea Enfermedad de Huntington juvenil Juvenile Huntington disease Juvenile Huntington disease Juvenile Huntington disease Maladie de Huntington juvénile Malattia di Huntington giovanile hrdo:pat_id_19564 248293 group of phenomes Anemia deficitaria rara Anemia deficitaria rara Anémie déficitaire rare Rare deficiency anemia Rare deficiency anemia Rare deficiency anemia hrdo:pat_id_19565 248296 group of phenomes Anemia deficitaria constitucional Anemia deficitaria costituzionale Anémie déficitaire constitutionnelle Constitutional deficiency anemia Constitutional deficiency anemia Constitutional deficiency anemia hrdo:pat_id_19567 248302 group of phenomes Anemia deficitaria acquisita rara Anemia deficitaria adquirida rara Anémie déficitaire acquise rare Rare acquired deficiency anemia Rare acquired deficiency anemia Rare acquired deficiency anemia hrdo:pat_id_19568 neant D55.2 248305 disease Anemia emolitica da deficit di gliceraldeide-3-fosfato deidrogenasi Anemia hemolítica por déficit de gliceraldehido-3-fosfato-deshidrogenasa Anémie hémolytique due au déficit en glyceraldehyde-3-phosphate déshydrogenase Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency hrdo:pat_id_19569 248308 group of phenomes Coagulopathie rare Coagulopatia rara Coagulopatía rara Dsiturbo emorragico raro Rare bleeding disorder Rare coagulopathy Maladie hémorragique rare Malattia emorragica rara Rare hemorrhagic disorder Rare hemorrhagic disorder Rare hemorrhagic disorder Trastorno hemorrágico raro hrdo:pat_id_1957 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 135400 neant L68.8 2026 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Fibromatose gingivale - hypertrichose Gingival fibromatosis - hypertrichosis HAFF Hirsutism - congenital gingival hyperplasia Hirsutisme - hyperplasie gingivale Hirsutismo - hiperplasia gengival congénita Hirsutismo - hiperplasia gingival Hirsutismus - gingivale Hyperplasie Irsutismo - iperplasia gengivale Fibromatose gengival - hipertricose Fibromatosi gengivale - ipertricosi Fibromatosis gingival - hipertricosis Gingivale Fibromatose - Hypertrichose Hypertrichose avec visage acromégaloïde Hypertrichosis with acromegaloid facial appearence hrdo:pat_id_19570 248315 group of phenomes Coagulopathie rare par déficit en facteurs de coagulation Coagulopatia rara da difetto dei fattori della coagulazione Coagulopatía rara por defecto de los factores de coagulación Malattia emorragica rara da difetto dei fattori della coagulazione Rare bleeding disorder due to a coagulation factors defect Rare coagulopathy due to a coagulation factor defect Disturbo emorragico raro da difetto dei fattori della coagulazione Maladie hémorragique rare par déficit en facteurs de coagulation Rare hemorrhagic disorder due to a coagulation factors defect Rare hemorrhagic disorder due to a coagulation factors defect Rare hemorrhagic disorder due to a coagulation factors defect Trastorno hemorrágico raro por defecto de los factores de coagulación hrdo:pat_id_19571 248326 group of phenomes Coagulopathie rare par anomalie des plaquettes Coagulopathie rare par thrombopathie et/ou thrombocytopénie Coagulopatia rara da difetto delle piastrine Coagulopatia rara da trombopatia e/o trombocitopenia Coagulopatía rara por anomalía de las plaquetas Coagulopatía rara por trombopatía y/o trombocitopenia Disturbo emorragico raro da trombopatia e/o trombocitopenia Maladie hémorragique rare par thrombopathie et/ou thrombocytopénie Malattia emorragica rara da difetto delle piastrine Rare bleeding disorder due to a platelet anomaly Rare bleeding disorder due to a thrombopathy and/or thrombocytopenia Rare coagulopathy due to a platelet anomaly Rare coagulopathy due to a thrombopathy and/or thrombocytopenia Rare hemorrhagic disorder due to a thrombopathy and/or thrombocytopenia Trastorno hemorrágico raro por trombopatía y/o trombocitopenia Disturbo emorragico raro da difetto delle piastrine Maladie hémorragique rare par anomalie des plaquettes Rare hemorrhagic disorder due to a platelet anomaly Rare hemorrhagic disorder due to a platelet anomaly Rare hemorrhagic disorder due to a platelet anomaly Trastorno hemorrágico raro por anomalía de las plaquetas hrdo:pat_id_19572 neant D69.1 248340 disease Deficiencia de almacenamiento de los gránulos densos Delta-SPD aislada Difetto isolato del pool di deposito dei granuli densi Déficit isolé de stockage des granules plaquettaires denses Isolated delta-SPD Isolated dense-SPD Isolated dense-storage pool disease SPD isolata dei granuli densi SPD isolato dei granuli delta Difetto isolato del pool di deposito dei granuli delta Déficit isolé de stockage des granules plaquettaires delta Enfermedad de los reservorios delta aislada Isolated delta-storage pool disease Isolated delta-storage pool disease Isolated delta-storage pool disease hrdo:pat_id_19573 248347 group of phenomes Coagulopathie rare par anomalie acquise des plaquettes Coagulopathie rare par thrombopathie et/ou thrombocytopénie acquise Coagulopatia rara da difetto piastrinico acquisito Coagulopatia rara da trombopatia e/o trombocitopenia acquisita Coagulopatía rara adquirida por anomalía de las plaquetas Coagulopatía rara adquirida por trombopatía y/o trombocitopenia Disturbo emorragico raro da trombopatia e/o trombocitopenia acquisita Maladie hémorragique rare par thrombopathie et/ou thrombocytopénie acquise Malattia emorragica rara da difetto piastrinico acquisito Malattia emorragica rara da trombopatia e/o trombocitopenia acquisita Rare bleeding disorder due to an acquired platelet anomaly Rare bleeding disorder due to an acquired thrombopathy and/or thrombocytopenia Rare coagulopathy due to an acquired platelet anomaly Rare coagulopathy due to an acquired thrombopathy and/or thrombocytopenia Rare hemorrhagic disorder due to an acquired thrombopathy and/or thrombocytopenia Trastorno hemorrágico raro adquirido por trombopatía y/o trombocitopenia Disturbo emorragico raro da difetto piastrinico acquisito Maladie hémorragique rare par anomalie acquise des plaquettes Rare hemorrhagic disorder due to an acquired platelet anomaly Rare hemorrhagic disorder due to an acquired platelet anomaly Rare hemorrhagic disorder due to an acquired platelet anomaly Trastorno hemorrágico raro adquirido por anomalía de las plaquetas hrdo:pat_id_19574 248358 group of phenomes Disturbo trombotico raro da difetto dei fattori di coagulazione Enfermedad trombótica rara por defecto de factores de coagulación Maladie thrombotique rare par déficit en facteurs de coagulation Rare thrombotic disorder due to a coagulation factors defect Rare thrombotic disorder due to a coagulation factors defect Rare thrombotic disorder due to a coagulation factors defect hrdo:pat_id_19575 248361 group of phenomes Disturbo trombotico raro da difetto costituzionale dei fattori di coagulazione Enfermedad trombótica rara por defecto constitucional de factores de coagulación Maladie thrombotique rare par déficit constitutionnel en facteurs de coagulation Rare thrombotic disorder due to a constitutional coagulation factors defect Rare thrombotic disorder due to a constitutional coagulation factors defect Rare thrombotic disorder due to a constitutional coagulation factors defect hrdo:pat_id_19576 248365 group of phenomes Disturbo trombotico raro da difetto acquisito dei fattori di coagulazione Enfermedad trombótica rara por defecto adquirido de factores de coagulación Maladie thrombotique rare par déficit acquis en facteurs de coagulation Rare thrombotic disorder due to an acquired coagulation factors defect Rare thrombotic disorder due to an acquired coagulation factors defect Rare thrombotic disorder due to an acquired coagulation factors defect hrdo:pat_id_19577 248368 group of phenomes Disturbo trombotico raro da difetto piastrinico Enfermedad trombótica rara por anomalía de las plaquetas Maladie thrombotique rare par anomalie des plaquettes Rare thrombotic disorder due to a platelet anomaly Rare thrombotic disorder due to a platelet anomaly Rare thrombotic disorder due to a platelet anomaly hrdo:pat_id_19578 neant 248401 group of phenomes Disturbo trombotico raro da difetto piastrinico costituzionale Enfermedad trombótica rara por anomalía constitucional de las plaquetas Maladie thrombotique rare par anomalie constitutionnelle des plaquettes Rare thrombotic disorder due to a constitutional platelet anomaly Rare thrombotic disorder due to a constitutional platelet anomaly Rare thrombotic disorder due to a constitutional platelet anomaly hrdo:pat_id_19579 neant 248404 group of phenomes Disturbo trombotico raro da difetto piastrinico acquisito Enfermedad trombótica rara adquirida por anomalía de las plaquetas adquirida Maladie thrombotique rare par anomalie acquise des plaquettes Rare thrombotic disorder due to an acquired platelet anomaly Rare thrombotic disorder due to an acquired platelet anomaly Rare thrombotic disorder due to an acquired platelet anomaly hrdo:pat_id_1958 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 135550 neant H90.3 2027 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Jones syndrome Jones, síndrome de Sindrome di Jones Syndrome de Jones Síndrome de Jones Síndrome de Jones Fibromatose gengival - surdez progressiva Fibromatose gingivale - surdité Fibromatose, gingivale - progressive Schwerhörigkeit Fibromatosi gengivale - sordità Fibromatosis gingival - sordera Gingival fibromatosis - progressive deafness hrdo:pat_id_19580 202400 neant D68.2 248408 clinical subtype Familial hypodysfibrinogenemia Familial hypodysfibrinogenemia Familial hypodysfibrinogenemia Hipodisfibrinogenemia familiar Hypodysfibrinogénémie familiale Ipodisfibrinogenemia familiare hrdo:pat_id_19583 250165 group of phenomes Genetic polycythemia Policitemia genetica Policitemia genética Policitemia genética Polycythémie génétique Polyzythämie, genetisch bedingte hrdo:pat_id_19588 250805 group of phenomes Serpinopathie Serpinopathie Serpinopathy Serpinopatia Serpinopatia Serpinopatía hrdo:pat_id_19589 250808 group of phenomes Serpinopathie avec polymérisation toxique Serpinopathie mit toxischer Serpin-Polymerisation Serpinopathy with toxic serpin polymerization Serpinopatia com polimerização tóxica de serpina Serpinopatia con polimerizzazione tossica della serpina Serpinopatía con polimerización tóxica de la serpina hrdo:pat_id_1959 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 228600 D057770 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Fibromatosis+hyaline+%28juvenile+OR+infant+OR+child%29 M72.8 2028 238861002 C0406578 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Murray-Puretic-Drescher syndrome Murray-Puretic-Drescher-Syndrom Puretic syndrome Puretic, síndrome de Puretic-Syndrom Sindrome di Murray-Puretic-Drescher Sindrome di Puretic Syndrome de Murray-Puretic-Drescher Syndrome de Puretic Síndrome de Murray-Puretic-Drescher Síndrome de Puretic Fibromatose hialina juvenil Fibromatose hyaline juvénile Fibromatose, hyaline juvenile Fibromatosi ialina giovanile Fibromatosis hialina juvenil Juvenile hyaline fibromatosis hrdo:pat_id_19590 250811 group of phenomes Serpinopathie avec perte de fonction Serpinopathie mit Verlust der Serpin-Funktion Serpinopathy with loss of serpin function Serpinopatia com perda da função da serpina Serpinopatia con perdita di funzione della serpina Serpinopatía con pérdida de función de la serpina hrdo:pat_id_19591 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 250831 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch disease APP logopénique Afasia primaria logopénica progresiva Afasia progressiva primitiva logopenica Afasia progressiva primária logopenica LPA LPA LPA LPA LPA Logopenic primary progressive aphasia Logopenic variant PPA Logopenische Aphasie, primäre progrediente PPA (Primäre progrediente Aphasie), logopenische Variante PPA, variante logopenica Variante logopénica de la APP variante logopenica de APP Afasia logopénica progresiva Afasia progressiva logopenica Afasia progressiva logopenica Aphasie primaire progressive logopénique Aphasie, logopenische progressive Logopenic progressive aphasia hrdo:pat_id_19592 250908 group of phenomes Doença oncológica rara Enfermedad oncológica rara Maladie oncologique rare Malattia oncologica rara Onkologische Krankheit, seltene Rare oncologic disease hrdo:pat_id_19593 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 106210 neant Q13.1 250923 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Aniridia aislada Aniridia isolada Aniridia isolata Aniridie isolée Aniridie, isolierte Isolated aniridia hrdo:pat_id_19594 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant H47.2 250932 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Atrofia ottica autosomica dominante con neuropatia periferica Atrofia óptica autosómica dominante y neuropatía periférica Atrofia óptica e neuropatia periférica autossómica dominante Atrophy optique autosomique dominante avec neuropathie périphérique Autosomal dominant optic atrophy and peripheral neuropathy Optikusatrophie und periphere Neuropathie, autosomal-dominant hrdo:pat_id_19595 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613180 neant 250972 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Polimicrogiria com hipoplasia do nervo óptico Polimicrogiria con hipoplasia del nervio óptico Polimicrogiria con ipoplasia dei nervi ottici Polymicrogyria with optic nerve hypoplasia Polymicrogyrie avec hypoplasie du nerf optique Polymikrogyrie mit Sehnerv-Hypoplasie hrdo:pat_id_19596 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 608688 neant E79.8 250977 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 5-Amino-4-Imidazolcarboxamid-Ribosidurie 5-amino-4-imidazol-carbossamide ribosiduria 5-amino-4-imidazolcarboxamida ribosiduria 5-amino-4-imidazolecarboxamide ribosiduria 5-amino-4-imidazolecarboxamide-ribosidurie AICAR-Transformylase und IMP-Zyklohydrolase-Mangel ATIC deficiency ATIC-Mangel Deficit di ATIC Deficiência de ATIC Déficit de ATIC Déficit en ATIC Ribosiduria 5-amino-4-imidazolecarboxamida AICA ribosiduria AICA-Ribosidurie AICA-ribosiduria AICA-ribosiduria AICA-ribosidurie Ribosiduria-AICA hrdo:pat_id_19597 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 614134 614284 neant Q15.8 Q87.5 250984 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome di Stickler, tipo 4 Stickler-Syndrom Typ 4 Síndrome de Stickler tipo 4 Autosomal recessive Stickler syndrome Sindrome di Stickler, autosomica recessiva Stickler-Syndrom, autosomal-rezessives Syndrome de Stickler autosomique récessif Síndrome de Stickler autossómico recessivo Síndrome de Stickler autosómico recesivo hrdo:pat_id_19598 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 612474 neant Q93.5 250989 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Del(1)(q21) Del(1)(q21) Del(1)(q21) Del(1)(q21) Del(1)(q21) Monosomia 1q21.1 Monosomie 1q21.1 Monosomie 1q21.1 Monosomy 1q21.1 Monosomía 1q21.1 Monossomia 1q21.1 1q21.1 microdeletion syndrome Mikrodeletionssyndrom 1q21.1 Sindrome da microdelezione 1q21.1 Syndrome de microdélétion 1q21.1 Síndrome de microdeleción 1q21.1 Síndrome de microdeleção 1q21.1 hrdo:pat_id_19599 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 612475 neant Q92.3 250994 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dup(1)(q21.1) Dup(1)(q21.1) Dup(1)(q21.1) Dup(1)(q21.1) Dup(1)(q21.1) Trisomia 1q21.1 Trisomie 1q21.1 Trisomie 1q21.1 Trisomy 1q21.1 Trisomía 1q21.1 Trissomia 1q21.1 1q21.1 microduplication syndrome Mikroduplikationssyndrom 1q21.1 Sindrome da microduplicazione 1q21.1 Syndrome de microduplication 1q21.1 Síndrome de microduplicación 1q21.1 Síndrome de microduplicação 1q21.1 hrdo:pat_id_196 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 151623 609265 609266 D016864 10066795 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=li+fraumeni+syndrome%5Bmh%5D+OR+Li+Fraumeni+Syndrome%5Btw%5D D48.9 524 428850001 C0085390 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Li-Fraumeni syndrome Li-Fraumeni-Syndrom Sindrome di Li-Fraumeni Syndrome de Li-Fraumeni Síndrome de Li-Fraumeni Síndrome de Li-Fraumeni hrdo:pat_id_1960 neant M89.2 2029 malformation syndrome Jaffe-Campanacci syndrome Jaffe-Campanacci, síndrome de Jaffe-Campanacci-Syndrom Sindrome di Jaffe-Campanacci Syndrome de Jaffe-Campanacci Síndrome de Jaffe-Campanacci Síndrome de Jaffe-Campanacci Fibromatose multiple non ossifiante Fibromatose múltipla não-ossificante Fibromatose, multiple nicht ossifizierende Fibromatosi multipla non ossificante Fibromatosis múltiple no osificante Multiple non-ossifying fibromatosis hrdo:pat_id_19600 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 612530 neant Q93.5 250999 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown 1q41-q42 microdeletion syndrome Del(1)(q41q42) Del(1)(q41q42) Del(1)(q41q42) Del(1)(q41q42) Del(1)(q41q42) Monosomia 1q41-q42 Monosomia 1q41q42 Monosomie 1q41-q42 Monosomie 1q41-q42 Monosomie 1q41q42 Monosomy 1q41-q42 Monosomy 1q41q42 Monosomía 1q41-q42 Monosomía 1q41q42 Monossomia 1q41-q42 Sindrome da microdelezione 1q41-q42 Syndrome de microdélétion 1q41-q42 Síndrome de microdeleción 11q41-q42 1q41q42 microdeletion syndrome Mikrodeletionssyndrom 1q41q42 Sindrome da microdelezione 1q41q42 Syndrome de microdélétion 1q41q42 Síndrome de microdeleción 1q41q42 Síndrome de microdeleção 1q41-q42 hrdo:pat_id_19601 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q99.8 251004 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown UPD(1)pat UPD(1)pat UPD(1)pat UPD(1)pat UPD(1)pat UPD1 paterna UPD1 paterna Disomia uniparentale paterna del cromosoma 1 Disomie uniparentale d'origine paternelle du chromosome 1 Disomía uniparental paterna del cromosoma 1 Dissomia uniparental paterna do cromossoma 1 Paternal uniparental disomy of chromosome 1 Uniparentale Disomie 1, paternale hrdo:pat_id_19602 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q99.8 251009 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown UPD(1)mat UPD(1)mat UPD(1)mat UPD(1)mat UPD(1)mat UPD1 materna UPD1 materna Disomia uniparentale materna del cromosoma 1 Disomie uniparentale d'origine maternelle du chromosome 1 Disomía uniparental materna del cromosoma 1 Dissomia uniparental materna do cromossoma 1 Maternal uniparental disomy of chromosome 1 Uniparentale Disomie 1, maternale hrdo:pat_id_19603 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q93.5 251014 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Del(2)(q31.1) Del(2)(q31.1) Del(2)(q31.1) Del(2)(q31.1) Del(2)(q31.1) Monosomia 2q31.1 Monosomie 2q31.1 Monosomie 2q31.1 Monosomy 2q31.1 Monosomía 2q31.1 Monossomia 2q31.1 2q31.1 microdeletion syndrome Mikrodeletionssyndrom 2q31.1 Sindrome da microdelezione 2q31.1 Syndrome de microdélétion 2q31.1 Síndrome de microdeleción 2q31.1 Síndrome de microdeleção 2q31.1 hrdo:pat_id_19604 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 612313 neant Q93.5 251019 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 2q32-q33 microdeletion syndrome Del(2)(q31.2q32.3) Del(2)(q31.2q32.3) Del(2)(q32) Del(2)(q32) Del(2)(q32) Del(2)(q32) Del(2)(q32) Del(2)(q32q33) Del(2)(q32q33) Del(2)(q32q33) Del(2)(q32q33) Del(2)(q32q33) Mikrodeletionssyndrom 2q31.2-q32.3 Monosomia 2q32 Monosomia 2q32-q33 Monosomia 2q32q33 Monosomie 2q31.2-q32.3 Monosomie 2q32 Monosomie 2q32 Monosomie 2q32-q33 Monosomie 2q32q33 Monosomy 2q32 Monosomy 2q32-q33 Monosomy 2q32q33 Monosomía 2q32 Monosomía 2q32-q33 Monosomía 2q32q33 Monossomia 2q31.2-q32.3 Monossomia 2q32 Sindrome da microdelezione 2q32-q33 Syndrome de microdélétion 2q32-q33 Síndrome de microdeleción 2q31.2q32.3 Síndrome de microdeleción 2q32-q33 Síndrome de microdeleção 2q31.2-q32.3 2q32q33 microdeletion syndrome Mikrodeletionssyndrom 2q32 Sindrome da microdelezione 2q32q33 Syndrome de microdélétion 2q32q33 Síndrome de microdeleción 2q32q33 Síndrome de microdeleção 2q32 hrdo:pat_id_19605 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q93.5 251028 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Del(2)(q33.1) Del(2)(q33.1) Del(2)(q33.1) Del(2)(q33.1) Del(2)(q33.1) Monosomia 2q33.1 Monosomie 2q33.1 Monosomie 2q33.1 Monosomy 2q33.1 Monosomía 2q33.1 Monossomia 2q33.1 2q33.1 microdeletion syndrome Mikrodeletionssyndrom 2q33.1 Sindrome da microdelezione 2q33.1 Syndrome de microdélétion 2q33.1 Síndrome de microdeleción 2q33.1 Síndrome de microdeleção 2q33.1 hrdo:pat_id_19607 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 611936 neant Q92.3 251038 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Trisomia 3q29 Trisomie 3q29 Trisomie 3q29 Trisomy 3q29 Trisomía 3q29 Trissomia 3q29 3q29 microduplication Microduplicación 3q29 Microduplication 3q29 Microduplicazione 3q29 Mikroduplikationssyndrom 3q29 Síndrome de microduplicação 3q29 hrdo:pat_id_19608 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q93.2 251043 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Chromosome 5 en anneau Cromosoma 5 ad anello Cromosoma 5 en anillo Cromossoma 5 em anel Ring chromosome 5 Ringchromosom 5 hrdo:pat_id_19609 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q93.5 251046 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Del(6)(p22) Del(6)(p22) Del(6)(p22) Del(6)(p22) Monosomia 6p22 Monosomie 6p22 Monosomie 6p22 Monosomy 6p22 Monossomia 6p22 6p22 microdeletion syndrome Mikrodeletionssyndrom 6p22 Sindrome da microdelezione 6p22 Syndrome de microdélétion 6p22 Síndrome de microdeleción 6p22 Síndrome de microdeleção 6p22 hrdo:pat_id_1961 213010 2031 malformation syndrome Sindrome di Thompson-Baraitser Syndrome de Thompson-Baraitser Síndrome de Thompson-Baraitser Thompson-Baraitser, síndrome de Thompson-Baraitser-Syndrom Thomson-Baraitser syndrome Fibrose hepática - quistos renais - atraso mental Fibrose hépatique - kystes rénaux - déficit intellectuel Fibrose, hepatische - Nierenzysten - geistige Retardierung Fibrosi epatica - cisti renale - ritardo mentale Fibrosis hepática - quistes renales - déficit intelectual Hepatic fibrosis - renal cysts - intellectual deficit hrdo:pat_id_19611 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 612863 neant Q93.5 251056 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Del(6)(q25) Del(6)(q25) Del(6)(q25) Del(6)(q25) Del(6)(q25) Monosomia 6q25 Monosomie 6q25 Monosomie 6q25 Monosomy 6q25 Monosomía 6q25 Monossomia 6q25 6q25 microdeletion syndrome Mikrodeletionssyndrom 6q25 Sindrome da microdelezione 6q25 Syndrome de microdélétion 6q25 Síndrome de microdeleción 6q25 Síndrome de microdeleção 6q25 hrdo:pat_id_19612 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q93.5 251061 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Del(7)(q31) Del(7)(q31) Del(7)(q31) Del(7)(q31) Del(7)(q31) Monosomia 7q31 Monosomie 7q31 Monosomie 7q31 Monosomy 7q31 Monosomía 7q31 Monossomaia 7q31 7q31 microdeletion syndrome Mikrodeletionssyndrom 7q31 Sindrome da microdelezione 7q31 Syndrome de microdélétion 7q31 Síndrome de microdeleción 7q31 Síndrome de microdeleção 7q31 hrdo:pat_id_19613 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q93.5 251066 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Del(8)(p11.2) Del(8)(p11.2) Del(8)(p11.2) Del(8)(p11.2) Del(8)(p11.2) Monosomia 8p11.2 Monosomie 8p11.2 Monosomie 8p11.2 Monosomy 8p11.2 Monosomía 8p11.2 Monossomia 8p11.2 8p11.2 deletion syndrome Mikrodeletionssyndrom 8p11.2 Sindrome da delezione 8p11.2 Syndrome de délétion 8p11.2 Síndrome de deleción 8p11.2 Síndrome de microdeleção 8p11.2 hrdo:pat_id_19614 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q93.5 251071 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Del(8)(p23.1) Del(8)(p23.1) Del(8)(p23.1) Del(8)(p23.1) Del(8)(p23.1) Monosomia 8p23.1 Monosomie 8p23.1 Monosomie 8p23.1 Monosomy 8p23.1 Monosomía 8p23.1 Monossomia 8p23.1 8p23.1 microdeletion syndrome Mikrodeletionssyndrom 8p23.1 Sindrome da microdelezione 8p23.1 Syndrome de microdélétion 8p23.1 Síndrome de microdeleción 8p23.1 Síndrome de microdeleção 8p23.1 hrdo:pat_id_19615 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q92.3 251076 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dup(8)(p23.1) Dup(8)(p23.1) Dup(8)(p23.1) Dup(8)(p23.1) Dup(8)(p23.1) Trisomia 8p23.1 Trisomie 8p23.1 Trisomie 8p23.1 Trisomy 8p23.1 Trisomía 8p23.1 Trissomia 8p23.1 8p23.1 microduplication syndrome Mikroduplikationssyndrom 8p23.1 Sindrome da microduplicazione 8p23.1 Syndrome de microduplication 8p23.1 Síndrome de microduplicación 8p23.1 Síndrome de microduplicação 8p23.1 hrdo:pat_id_19616 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 165800 neant M93.2 251262 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Osteochondritis dissecans and short stature Osteochondritis dissecans und Kleinwuchs Osteocondrite dissecante e baixa estatura Osteocondrite dissecante e bassa statura Osteocondritis disecante y estatura baja Ostéochondrite disséquante et petite taille Familial osteochondritis dissecans Osteochondrosis dissecans, familiäre Osteocondrite dissecante familiar Osteocondrite dissecante familiare Osteocondritis disecante familiar Ostéochondrite disséquante familiale hrdo:pat_id_19618 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 613677 neant E26.0 251274 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Familial hyperaldosteronism type 3 Hiperaldosteronismo familiar tipo 3 Hiperaldosteronismo familiar, tipo 3 Hyperaldosteronismus, familiärer, Typ 3 Hyperaldostéronisme familial type 3 Iperaldosteronismo familiare, tipo 3 hrdo:pat_id_19619 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 611040 neant Q15.8 251279 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Microftalmia - retinite pigmentosa - foveoschisi - drusen della papilla ottica Microftalmia - retinite pigmentosa - foveosquisis - drusas do disco óptico Microftalmia - retinosis pigmentaria - foveosquisis - drusen de disco óptico Microphtalmie - rétinite pigmentaire - fovéoschisis - drusen de la papille optique Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen Mikrophthalmie - Retinitis pigmentosa - Foveoschisis - Drusenpapille hrdo:pat_id_1962 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 181270 C536623 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Scalp-ear-nipple%5BAll+Fields%5D+AND+%28%22syndrome%22%5BMeSH+Terms%5D+OR+syndrome%5BText+Word%5D%29 Q87.8 2036 C1867020 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Finlay-Markes-Syndrom Finlay-Marks syndrome Syndrome de Finlay-Marks Kopfhaut-Ohr-Mamillen-Syndrom Scalp-ear-nipple syndrome Sindrome di Finlay-Markes Syndrome du cuir chevelu-oreilles-mamelons Síndrome couro cabeludo-pavilhão auricular-mamilo Síndrome de Finlay-Markes hrdo:pat_id_19620 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 108600 neant G11.8 251282 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown ADSA ADSA ADSA ADSA SPAX1 SPAX1 Atassia spastica autosomica dominante Ataxia espástica autossómica dominante Ataxia espástica autosómica dominante Ataxie spastique autosomique dominante 1 Ataxie, spastische, autosomal-dominante Autosomal dominant spastic ataxia 1 hrdo:pat_id_19621 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 153870 neant H35.5 251287 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Benign concentric annular macular dystrophy Distrofia macular anular concéntrica benigna Distrofia macular anular concêntrica benigna Distrofia maculare anulare concentrica benigna Dystrophie maculaire annulaire concentrique benign Makuladystrophie, anuläre beninge konzentrische hrdo:pat_id_19622 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 168550 neant Q74.0 251290 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Foramen parietal con disostosis cleidocraneal Foramen pariétal avec dysostose cléido-crânienne Foramina parietal com disostose cleidocraniana Foramina parietalia con disostosi cleidocranica Parietal foramina with cleidocranial dysostosis Foramen parietal con displasia cleidocraneal Foramen pariétal avec dysplasie cléido-crânienne Foramina parietal com displasia cleidocraniana Foramina parietalia con displasia cleidocranica Foramina parietalia mit kleidokranialer Dysostose Parietal foramina with cleidocranial dysplasia hrdo:pat_id_19623 Variabel Variabile Variable Variable Variable Variable Variável 172870 neant H35.5 251295 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 PPRCA PPRCA PPRCA PPRCA PPRCA PPRCA Atrofia coriorretiniana paravenosa pigmentada Atrofia coriorretiniana paravenosa pigmentada Atrofia retinocoroidea paravenosa pigmentata Atrophie rétino-choroïdienne paraveineuse pigmentée Paravenöse pigmentierte retinochoroidale Atrophie Pigmented paravenous retinochoroidal atrophy hrdo:pat_id_19624 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 251304 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Infantile onset panniculitis with uveitis and systemic granulomatosis Paniculite de início na lactância, com uveíte e granulomatose sistémica Paniculitis infantil con uveitis y granulomatosis sistémica Panniculite a esordio infantile con uveite e granulomatosi sistemica Panniculite infantile avec uvéite et granulomatose systémique Pannikulitis mit Uveitis und systemischer Granulomatose, infantile Form hrdo:pat_id_19625 Variabel Variabile Variable Variable Variable Variable Variável neant E85.0 251307 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Idiopathic relapsing pericarditis Pericardite recidivante idiopatica Pericardite recidivante idiopática Idiopathic recurrent pericarditis Pericardite recorrente idiopática Pericardite ricorrente idiopatica Pericarditis recurrente idiopática Perikarditis, idiopathische rekurrente Péricardite récurrente idiopathique hrdo:pat_id_19626 neant M35.1 251312 group of phenomes Doença sobreposta do tecido conjuntivo Maladie de chevauchement du tissu conjonctif Malattia da sovrapposizione del tessuto connettivo Mischkollagenose, überlappende Overlapping connective tissue disease Síndrome de solapamiento del tejido conectivo hrdo:pat_id_19627 neant M35.1 251316 disease Doença sobreposta do tecido conjuntivo, não classificada Maladie de chevauchement du tissu conjonctif non classifiée Malattia da sovrapposizione del tessuto connettivo non classificata Mischkollagenose, überlappende, unklassifizierte Síndrome de solapamiento del tejido conectivo no clasificado Unclassified overlapping connective tissue disease hrdo:pat_id_19628 251325 group of phenomes Drug-induced vasculitis Vasculite indotta da farmaci Vasculite induite par les médicaments Vasculite induzida por fármacos Vasculitis inducida por medicamentos Vaskulitis, Medikamenten-induzierte hrdo:pat_id_19629 251328 group of phenomes Unclassified vasculitis Vasculite non classificata Vasculite non classifiée Vasculite não-classificada Vasculitis no clasificada Vaskulitis, unklassifizierte hrdo:pat_id_1963 neant 2042 malformation syndrome Fistola tracheoesofagea - ipospadia Fistule trachéo-oesophagienne - hypospadias Fístula traqueo-esofágica - hipospadias Fístula traqueofágica hipospadias Hypospadie - Tracheophagealfistel Tracheo-esophageal fistula - hypospadias hrdo:pat_id_19630 251332 group of phenomes Fieber-Syndrom, langanhaltendes unerklärbares Fiebre inexplicada de larga duración/síndrome inflamatorio Sindrome infiammatoria/febbre di lunga durata di origine sconosciuta Syndrome inflammatoire/fièvre de longue durée inexpliquée Síndrome inflamatório/febre de longa duração, não explicado Unexplained long-lasting fever/inflammatory syndrome hrdo:pat_id_19631 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 604391 neant 251347 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown ATLD ATLD ATLD ATLD ATLD ATLD Ataxia-telangectasia-like disorder Ataxia-Teleangiectasia-ähnliche Krankheit Ataxia-telangiectasia-like disorder Ataxie-télangiectasie like Disturbo atassia-telangectasia-simile Doença ataxia-telangectasia-like Trastorno de tipo ataxia-telangiectasia hrdo:pat_id_19632 Variabel Variabile Variable Variable Variable Variable Variável neant D57.2 251355 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo group of phenomes Double heterozygotes sickling disorder Duplo heterozigoto para doença de falciformação Malattia a cellule falciformi con doppia eterozigosi Sichelzellenkrankheit, doppelte heterozygote Anemia falciforme asociada a otra anomalía de la hemoglobina Doença de células falciformes associada a outra anomalia da hemoglobina Drepanocitosi associata ad altro difetto dell'emoglobina Drépanocytose associée à une autre anomalie de l'hémoglobine Sichelzellenanämie mit assoziierter weiterer Hämoglobin-Anomalie Sickle cell disease associated with an other hemoglobin anomaly hrdo:pat_id_19634 Variabel Variabile Variable Variable Variable Variable Variável neant D57.2 251359 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown HbS - Beta-Thalassämie HbS - beta talassemia HbS - beta-talasemia HbS - beta-talassemia HbS - beta-thalassemia HbS - bêta-thalassémie Thalassodrépanocytose Anemia falciforme - beta-talasemia Doença de células falciformes - beta-talassemia Drepanocitosi - beta talassemia Drépanocytose - bêta-thalassémie Sichelzellenanämie - Beta-Thalassämie Sickle cell - beta-thalassemia disease hrdo:pat_id_19635 Variabel Variabile Variable Variable Variable Variable Variável 603903 neant D57.2 251365 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Doença HbSC Enfermedad HbSC HbSC HbSC disease HbSC-Krankheit Malattia HbSC Doença de células falciformes - hemoglobina C Drepanocitosi - emoglobinopatia C Drepanocitosis - enfermedad de la hemoglobina C Drépanocytose - hémoglobinose C Sichelzellenanämie - Hämoglobin-C-Krankheit Sickle cell - hemoglobin C disease hrdo:pat_id_19636 Variabel Variabile Variable Variable Variable Variable Variável neant D57.2 251370 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Doença HbSD Enfermedad HbSD HbSD HbSD disease HbSD-Krankheit Malattia HbSD Derpanocitosi - emoglobinopatia D Doença de células falciformes - hemoglobina D Drepanocitosis - enfermedad de la hemoglobina D Drépanocytose - hémoglobinose D Sichelzellenanämie - Hämoglobin-D-Krankheit Sickle cell - hemoglobin D disease hrdo:pat_id_19637 Variabel Variabile Variable Variable Variable Variable Variável 603903 neant D57.2 251375 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Doença HbSE Enfermedad HbSE HbSE HbSE disease HbSE-Krankheit Malattia HbSE Doença de células falciformes - hemoglobina E Drepanocitosi - emoglobinopatia E Drepanocitosis - enfermedad de la hemoglobina E Drépanocytose - hémoglobinose E Sichelzellenanämie - Hämoglobin-E-Krankheit Sickle cell - hemoglobin E disease hrdo:pat_id_19638 Variabel Variabile Variable Variable Variable Variable Variável neant D57.2 251380 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown HPFH - drépanocytose HPFH - sickle cell disease Hereditary persistence of fetal hemoglobin - sickle cell disease Hereditäre Persistenz des fetalen Hämoglobins - Sichelzellenanämie Persistance familiale de l'hémoglobine fœtale - drépanocytose Persistencia hereditaria de la hemoglobina fetal - anemia falciforme Persistenza ereditaria di emoglobina fetale - drepanocitosi Persistência de hemoglobina fetal hereditária - doença de células falciformes hrdo:pat_id_19639 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300831 neant 251383 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficiência intelectual ligada ao X - microcefalia - malformação cortical - hábito delgado Déficit intelectual ligado al X - microcefalia - malformación cortical - hábito delgado Déficit intellectuel lié à l'X - microcéphalie - malformation corticale - habitus mince Ritardo mentale legato all'X - microcefalia - malformazione corticale - habitus magro X-chromosomale Intelligenzminderung - Mikrozephalie - kortikale Fehlbildungen - schlanker Habitus X-linked intellectual deficit - microcephaly - cortical malformation - thin habitus CK syndrome CK-Syndrom Sindrome CK Syndrome CK Síndrome CK Síndrome CK hrdo:pat_id_19640 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 226650 neant Q81.8 251393 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 EBJ-nH loc Epidermólisis bullosa juntural localizada, no de tipo Herlitz JEB-nH loc Epidermolisi bollosa giunzionale localizzata, tipo non Herlitz Epidermolyse bulleuse jonctionnelle localisée type non-Herlitz Epidermolysis bullosa, junktionale lokalisierte, non-Herlitz Typ Epidermólise bolhosa juncional localizada, tipo não-Herlitz Epidermólisis ampollosa juntural localizada, no de tipo Herlitz Localized junctional epidermolysis bullosa, non-Herlitz type hrdo:pat_id_19642 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q56.1 251510 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown 46,XY PGD 46,XY PGD 46,XY PGD 46,XY PGD 46,XY partial testicular dysgenesis 46,XY partielle testikuläre Dysgenese Disgenesia testicolare parziale 46,XY Disgenesia testicular parcial 46,XY Dysgénésie testiculaire partielle 46, XY PGD 46,XY PGD 46,XY PGD 46,XY 46,XY partial gonadal dysgenesis 46,XY-Gonadendysgenesie, partielle Disgenesia gonadal parcial 46,XY Disgenesia gonadal parcial 46,XY Disgenesia gonadica parziale 46,XY Dysgénésie gonadique partielle 46,XY hrdo:pat_id_19643 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 187370 neant 251515 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Achillessehne, verkürzte Beugekontraktur Contractura en flexión plantar Contracture congénitale du tendon calcanéen Contrattura in flessione plantare Contratura da flexão plantar DA10 DA10 DA10 DA10 DA10 DA10 Plantar flexion contracture Short tendo calcaneus Tendine calcaneale corto Tendão calcâneo curto Tendón calcáneo corto Arthrogrypose distale type 10 Arthrogrypose, distale, Typ 10 Artrogripose distal tipo 10 Artrogriposi distale, tipo 10 Artrogriposis distal tipo 10 Distal arthrogryposis type 10 hrdo:pat_id_19644 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 194470 neant E83.2 251523 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hipercincemia e hipercalprotectinemia Hiperzincemia e hipercalprotectinemia Hyperzincemia and hypercalprotectinemia Hyperzincémie et hypercalprotectinémie Hyperzinkämie und Hypercalprotectinämie Iperzinchemia e ipercalprotectinemia Infecciones recurrentes - síndrome inflamatorio por trastornos del metabolismo del zinc Infections récurrentes - syndrome inflammatoire par anomalie du métabolisme du zinc Infecções recorrentes - síndrome inflamatório por deficiência no metabolismo do zinco Infektionen, rekurrente - inflammatorisches Syndrom, bei Zink-Stoffwechselstörung Infezioni ricorrenti - sindrome infiammatoria da difetto del metabolismo dello zinco Recurrent infections - inflammatory syndrome due to zinc metabolism disorder hrdo:pat_id_19645 251529 group of phenomes Embriofetopatia da esposizione tossica o farmacologica Embriofetopatia tóxica ou relacionada com fármacos Embriofetopatía tóxica o asociada a medicamentos Embryofoetopathie d'exposition toxique ou médicamenteuse Embryopathie, toxische oder Medikamenten-induzierte Toxic or drug-related embryofetopathy hrdo:pat_id_19646 251535 group of phenomes Embriofetopatia da malattia materna Embriofetopatia relacionada com doença materna Embriofetopatía por enfermedad materna Embryofoetopathie par maladie maternelle Embryopathie, mit maternaler Krankheit assoziierte Maternal disease-related embryofetopathy hrdo:pat_id_19647 251558 group of phenomes Rare tumor of the neuroepithelial tissue Seltener Tumor des neuroepithelialen Gewebes Tumeur rare du tissu neuroépithélial Tumor raro del tejido neuroepitelial Tumore raro del tessuto neuroepiteliale Tumeur du tissu neuroépithélial Tumor del tejido neuroepitelial Tumor des neuroepithelialen Gewebes Tumor of the neuroepithelial tissue Tumor raro do tecido neuroepitelial Tumore del tessuto neuroepiteliale hrdo:pat_id_19648 251561 group of phenomes Astrocitoma de alto grado Astrocitoma de alto grau Astrocitoma di alto grado Astrocytome de haut grade Astrozytom, hochgradiges High-grade astrocytoma hrdo:pat_id_19649 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 251576 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch histopathological subtype Gliosarcoma Gliosarcoma Gliosarcoma Gliosarcome Gliosarkom Gliossarcoma hrdo:pat_id_1965 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis 309560 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Paraplegia+mental+retardation+hyperkeratosis G82.1 2824 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Fitzsimmons-McLachlan-Gilbert syndrome Fitzsimmons-McLachlan-Gilbert, síndrome de Fitzsimmons-McLachlan-Gilbert-Syndrom Sindrome di Fitzsimmons-McLachlan-Gilbert Syndrome de Fitzsimmons-McLachlan-Gilbert Síndrome de Fitzsimmons-McLachlan-Gilbert Paraplegia - atraso mental - hiperqueratose Paraplegia - intellectual deficit - hyperkeratosis Paraplegia - ritardo mentale - ipercheratosi Paraplegie - geistige Retardierung - Hyperkeratosen Paraplejia - déficit intelectual - hiperqueratosis Paraplégie - déficit intellectuel - hyperkératose hrdo:pat_id_19650 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 251579 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch histopathological subtype Giant cell glioblastoma Gliobastoma a cellule giganti Glioblastoma de células gigantes Glioblastoma de células gigantes Glioblastome à cellules géantes Riesenzell-Glioblastom hrdo:pat_id_19651 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 251582 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Gliomatose cerebral Gliomatose cérébrale Gliomatosi cerebrale Gliomatosis cerebri Gliomatosis cerebri Gliomatosis cerebri hrdo:pat_id_19652 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 251589 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Anaplastic astrocytoma Astrocitoma anaplastico Astrocitoma anaplásico Astrocitoma anaplásico Astrocytome anaplasique Astrozytom, anaplastisches hrdo:pat_id_19653 251592 group of phenomes Astrocitoma de baixo grau Astrocitoma de bajo grado Astrocitoma di basso grado Astrocytome de bas grade Astrozytom, niedriggradiges Low-grade astrocytoma hrdo:pat_id_19654 251595 disease Astrocitoma diffuso Astrocitoma difuso Astrocitoma difuso Astrocytome diffus Astrozytom, diffuses Diffuse astrocytoma hrdo:pat_id_19655 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 251598 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch histopathological subtype Astrocitoma protoplasmatico Astrocitoma protoplásmico Astrocitoma protoplásmico Astrocytome protoplasmique Astrozytom, protoplasmisches Protoplasmic astrocytoma hrdo:pat_id_19656 251601 histopathological subtype Astrocitoma fibrilar Astrocitoma fibrilar Astrocitoma fibrillare Astrocytome fibrillaire Astrozytom, fibrilläres Fibrillary astrocytoma hrdo:pat_id_19657 251604 histopathological subtype Astrocitoma gemistocitico Astrocitoma gemistocítico Astrocitoma gemistocítico Astrocytome gémistocytique Astrozytom, gemistozytisches Gemistocytic astrocytoma hrdo:pat_id_19658 Variabel Variabile Variable Variable Variable Variable Variável 251607 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease PXA PXA PXA PXA PXA PXA Pleomorphic xanthoastrocytoma Xanthoastrocytome pléomorphe Xanthoastrozytom, pleomorphes Xantoastrocitoma pleomorfo Xantoastrocitoma pleomórfico Xantoastrocitoma pleomórfico hrdo:pat_id_19659 Variabel Variabile Variable Variable Variable Variable Variável 251612 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Astrocitoma pilocitico Astrocitoma pilocítico Astrocitoma pilocítico Astrocytome pilocytique Astrozytom, pilozytisches Pilocytic astrocytoma hrdo:pat_id_1966 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 136140 C537062 Q87.8 2044 312214005 C0729582 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Leisti-Hollister-Rimoin syndrome Leisti-Hollister-Rimoin, síndrome de Leisti-Hollister-Rimoin-Syndrom Sindrome di Leisti-Hollister-Rimoin Syndrome de Leisti-Hollister-Rimoin Síndrome de Leisti Hollister Rimoin Síndrome de Leisti-Hollister-Rimoin Floating-Harbor syndrome Floating-Harbor-Syndrom Sindrome Floating-Harbor Syndrome de Floating-Harbor Síndrome de Floating-Harbor Síndrome de Floating-Harbor hrdo:pat_id_19660 Variabel Variabile Variable Variable Variable Variable Variável 251615 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch histopathological subtype Astrocitoma pilomixoide Astrocitoma pilomixoide Astrocitoma pilomixóide Astrocytome pilomyxoïde Astrozytom, pilomyxoides Pilomyxoid astrocytoma hrdo:pat_id_19661 251618 disease SEGA SEGA SEGA SEGA SEGA SEGA Astrocitoma subependimale a cellule giganti Astrocitoma subependimario de células gigantes Astrocitoma subependimário de células gigantes Astrocytome sous épendymaire à cellules géantes Riesenzellastrozytom, subependymales Subependymal giant cell astrocytoma hrdo:pat_id_19662 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 251623 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Pituicitoma Pituicitoma Pituicitoma Pituicytoma Pituicytome Pituizytom hrdo:pat_id_19663 Variabel Variabile Variable Variable Variable Variable Variável 251627 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Oligodendrogliom Oligodendroglioma Oligodendroglioma Oligodendroglioma Oligodendroglioma Oligodendrogliome hrdo:pat_id_19664 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 251630 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Anaplastic oligodendroglioma Oligodendrogliom, anaplastisches Oligodendroglioma anaplastico Oligodendroglioma anaplásico Oligodendroglioma anaplásico Oligodendrogliome anaplasique hrdo:pat_id_19665 251633 disease Ependimoma de bajo grado Ependimoma di basso grado Ependimona de baixo grau Ependymom, niedriggradiges Ependymome de bas grade Low grade ependymoma hrdo:pat_id_19666 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 251636 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch histopathological subtype Ependimoma Ependimoma Ependimona Ependymom Ependymoma Ependymome hrdo:pat_id_19667 251639 histopathological subtype Sub-épendymome Sous-épendymome Subependimoma Subependimoma Subependimona Subependymom Subependymoma hrdo:pat_id_19668 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 251643 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch histopathological subtype Ependimoma mixopapilar Ependimoma mixopapillare Ependimona mixopapilar Ependymom, myxopapilläres Ependymome myxopapillaire Myxopapillary ependymoma hrdo:pat_id_19669 251646 disease Ependimoma de alto grado Ependimoma di alto grado Ependimona de alto grau Ependymom, hochgradiges Ependymome de haut grade High-grade ependymoma Anaplastic ependymoma Ependimoma anaplastico Ependimoma anaplásico Ependimona anaplásico Ependymom, anaplastisches Ependymome anaplasique hrdo:pat_id_1967 C537065 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28epidermal+cyst+OR+sebaceous+cyst*%5Btw%5D+OR+trichilemmal+cyst*%5Btw%5D%29+%28white+nail*%5Btw%5D+OR+leukonychia%29 L60.8 2045 C2931411 disease Friedel-Heid-Grosshans, síndrome de Leuconichia totale - cisti sebacee multiple - calcoli renali Leukonychia totalis - multiple Talgdrüsenzysten - Nierensteine Leukonychia totalis - trichilemmal cysts - ciliary dystrophy Leukonychie totale - kystes trichilemmaux - dystrophie ciliaire Síndrome de Friedel-Heid-Grosshans FLOTCH syndrome FLOTCH-Syndrom Sindrome FLOTCH Syndrome FLOTCH Síndrome FLOTCH Síndrome de Flotch hrdo:pat_id_19670 251651 group of phenomes Mixed oligodendroglial and astrocytic tumor Tumeur mixte oligodendrogliale et astrocytaire Tumor mixto oligodendroglial y astrocitario Tumor oligodendroglial e astrocítico misto Tumor, astrozytischer/oligodendroglialer gemischter Tumore misto oligodendrogliale e astrocitico Oligoastrocytic tumor Tumeur oligoastrocytaire Tumor oligoastrocitario Tumor oligoastrocítico Tumor, oligoastrozytischer Tumore oligoastrocitico hrdo:pat_id_19671 251656 disease MOA MOA MOA MOA MOA MOA Mixed oligoastrocytoma Oligoastrocitoma misto Oligoastrocitoma misto Oligoastrocitoma mixto Oligoastrocytome mixte Oligoastrozytom, gemischtes Oligoastrocitoma Oligoastrocitoma Oligoastrocitoma Oligoastrocytoma Oligoastrocytome Oligoastrozytom hrdo:pat_id_19672 251663 disease aMOA aMOA aMOA aMOA aMOA aMOA Anaplastic oligoastrocytoma Oligoastrocitoma anaplastico Oligoastrocitoma anaplásico Oligoastrocitoma anaplásico Oligoastrocytome anaplasique Oligoastrozytom, anaplastisches hrdo:pat_id_19673 251668 group of phenomes Glial tumor of the neuroepithelial tissue with unknown origin Gliom des neuroepithelialen Gewebes mit unbekannter Ursache Tumeur gliale du tissu neuroépithélial d'origine inconnue Tumor glial de origem desconhecida do tecido neuroepitelial Tumor glial del tejido neuroepitelial de origen desconocido Tumore gliale del tessuto neuroepiteliale di origine sconosciuta hrdo:pat_id_19674 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 251671 disease Angiocentric glioma Gliom, angiozentrisches Glioma angiocentrico Glioma angiocéntrico Glioma angiocêntrico Gliome angiocentrique hrdo:pat_id_19675 251674 disease Chordoid glioma Chordoidgliom Glioma cordoide Glioma cordoide Glioma cordóide Gliome chordoïde hrdo:pat_id_19676 Variabel Variabile Variable Variable Variable Variable Variável 251679 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Astroblastom Astroblastoma Astroblastoma Astroblastoma Astroblastoma Astroblastome hrdo:pat_id_19679 251852 group of phenomes Embryonal tumor of the neuroepithelial tissue Tumeur embryonnaire du tissu neuroépithélial Tumor embrionario del tejido neuroepitelial Tumor embrionário do tecido neuroepitelial Tumor, embryonaler, des neuroepithelialen Gewebes Tumore embrionale del tessuto neuroepiteliale hrdo:pat_id_1968 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 136300 C537066 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=flynn-aird+syndrome+OR+%28flynn+aird%29 Q87.8 2047 239056006 C0343108 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Flynn-Aird syndrome Flynn-Aird-Syndrom Sindrome di Flynn-Aird Syndrome de Flynn-Aird Síndrome de Flynn-Aird Síndrome de Flynn-Aird hrdo:pat_id_19680 251855 histopathological subtype Anaplastic/large cell medulloblastoma Medulloblastom, anaplastisches/großzelliges Medulloblastoma anaplastico/a grandi cellule Meduloblastoma anaplásico/de células grandes Meduloblastoma de grandes células/anaplásico Médulloblastome anaplasique à grandes cellules hrdo:pat_id_19681 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 155255 neant 251858 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch histopathological subtype Cerebellar neuroblastoma Neuroblastom, zerebelläres Neuroblastoma cerebelar Neuroblastoma cerebeloso Neuroblastoma cerebrale Neuroblastome cérébelleux Medulloblastom mit extensiver Nodularität (MBEN) Medulloblastoma con nodularità estensiva Medulloblastoma with extensive nodularity Meduloblastoma com nodularidade extensa Meduloblastoma con nodularidad extensa Médulloblastome à nodularité extensive hrdo:pat_id_19682 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 155255 neant 251863 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch histopathological subtype Médulloblastome à nodularité mixte Desmoplastic/nodular medulloblastoma Medulloblastom, desmoplastisches/noduläres Medulloblastoma desmoplastico/nodulare Meduloblastoma desmoplásico/nodular Meduloblastoma nodular/desmoplásico Médulloblastome desmoplasique/nodulaire hrdo:pat_id_19683 155255 neant 251867 histopathological subtype Classic medulloblastoma Medulloblastom, klassisches Medulloblastoma classico Meduloblastoma clásico Meduloblastoma clássico Médulloblastome classique hrdo:pat_id_19684 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 251870 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes PNET PNET PNET PNET PNET PNET TNEP TNEP Primitive neuroectodermal tumor Tumeur neuroectodermique primitive Tumor neuroectodérmico primitivo Tumor neuroectodérmico primitivo Tumor, neuroektodermaler primitiver Tumore neuroectodermico primitivo hrdo:pat_id_19685 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 251877 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Ganglioneuroblastom Ganglioneuroblastoma Ganglioneuroblastoma Ganglioneuroblastoma Ganglioneuroblastome Glanglioneuroblastoma hrdo:pat_id_19686 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 251880 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Ependimoblastoma Ependimoblastoma Ependimoblastoma Ependymoblastom Ependymoblastoma Ependymoblastome hrdo:pat_id_19687 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 251883 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Medulloepitheliom Medulloepithelioma Medulloepithelioma Medulloepithelioma Medulloepithelioma Médulloépithéliome hrdo:pat_id_19688 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 251891 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease AT/RT AT/RT AT/RT AT/RT AT/RT AT/RT Atypical teratoid/rhabdoid tumor Teratóide atípico/tumor rabdóide Tumeur tératoïde/rhabdoïde atypique Tumor teratoide/rabdoide atípico Tumor, atypischer teratoider/rhabdoider Tumore teratoide/rabdoide atipico hrdo:pat_id_19689 251896 group of phenomes Chordoidplexustumor Choroid plexus tumor Tumeur des plexus choroïdes Tumor del plexo coroideo Tumor do plexo coróide Tumore del plesso corioideo hrdo:pat_id_1969 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável C537069 neant G52.7 2048 C2931412 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Bilateral anterior opercular syndrome Diplegia facio-faringo-glosso-masticatoria Diplegie, fazio-pharyngo-glosso-mastikatorische Diplejía facio - faringo - gloso - masticatoria Diplégie facio-linguo-masticatrice Facio-pharyngo-glosso-masticatory diplegia Operkulumsyndrom, anteriores bilaterales Sindrome degli opercoli anteriori bilaterale Syndrome operculaire antérieur bilatéral Síndrome opercular anterior bilateral Foix-Chavany-Marie syndrome Foix-Chavany-Marie-Syndrom Sindrome di Foix-Chavany-Marie Syndrome de Foix-Chavany-Marie Síndrome de Foix-Chavany-Marie Síndrome de Foix-Chavany-Marie hrdo:pat_id_19690 260500 neant 251899 disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Carcinoma del plesso corioideo Carcinoma del plexo coroideo Carcinoma do plexo coróide Carcinome des plexus choroïdes Chordoidplexuskarzinom Choroid plexus carcinoma hrdo:pat_id_19691 251902 disease Atypical papilloma of choroid plexus Choroidplexuspapillom, atypisches Papilloma atipico del plesso corioideo Papillome atypique des plexus choroïdes Papiloma atípico del plexo coroideo Papiloma atípico do plexo coróide hrdo:pat_id_19692 251905 group of phenomes Pineal tumor of the neuroepithelial tissue Pinealislogentumor Tumeur pinéale du tissu neuroépithélial Tumor pineal de tejido neuroepitelial Tumor pineal do tecido neuroepitelial Tumore pineale del tessuto neuroepiteliale hrdo:pat_id_19693 251909 disease Pineoblastom Pineoblastoma Pineoblastoma Pineoblastoma Pineoblastoma Pinéoblastome hrdo:pat_id_19694 251912 disease Pineocitoma Pineocitoma Pineocitoma Pineocytoma Pineozytom Pinéocytome hrdo:pat_id_19695 Variabel Variabile Variable Variable Variable Variable Variável 251915 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Papillary tumour of the pineal region Tumeur papillaire de la région pinéale Tumor papilar da região pineal Tumor papilar de la región pineal Tumor, papillärer, der Pinealisregion Tumore papillare della regione pineale hrdo:pat_id_19696 251919 disease Pineal parenchymal tumor of intermediate differenciation Pinealisparenchymtumor intermediärer Differenzierung Tumeur du parenchyme pinéal à différenciation intermédiaire Tumor del parénquima pineal de diferenciación intermedia Tumor do parênquima pineal de diferenciação intermédia Tumore del parenchima pineale a differenziazione intermedia hrdo:pat_id_19697 251924 group of phenomes Neuronal tumor Tumeur neuronale Tumor neuronal Tumor neuronal Tumor, neuronaler Tumore neuronale hrdo:pat_id_19698 251927 disease Extraventricular neurocytoma Neurocitoma extraventricolare Neurocitoma extraventricular Neurocitoma extraventricular Neurocytome extraventriculaire Neurozytom, extraventrikuläres hrdo:pat_id_19699 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 251931 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Cerebellar liponeurocytoma Liponeurocitoma cerebelar Liponeurocitoma cerebellare Liponeurocitoma cerebeloso Liponeurocytome cérébelleux Lliponeurozytom, zerebelläres hrdo:pat_id_197 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300322 308950 D007926 10057589 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%22lesch-nyhan+syndrome%22%5BTIAB%5D+NOT+Medline%5BSB%5D%29+OR+%22lesch-nyhan+syndrome%22%5BMeSH+Terms%5D+OR+Lesch-Nyhan+syndrome%5BText+Word%5D E79.1 510 10406007 C0023374 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Deficit completo di HPRT Deficit completo di ipoxantina-guanina-fosforibosiltransferasi Deficit di HPRT, grado IV Deficit di ipoxantina-guanina-fosforibosiltransferasi, grado IV Deficiência de hipoxantina guanina fosforribosiltransferase Déficit complet en HPRT Déficit complet en hypoxanthine guanine phosphoribosyltransférase Déficit completo de HPRT Déficit completo de hipoxantina guanina fosforribosiltransferasa Déficit de HPRT, grado IV Déficit de hipoxantina guanina fosforribosiltransferasa, grado IV Déficit en HPRT grade IV Déficit en hypoxanthine guanine phosphoribosyltransferase grade IV HPRT complete deficiency HPRT deficiency grade IV HPRT-Mangel vom Grad IV HPRT-Mangel, kompletter Hipoxantina guanina fosforribosiltransferase, deficiência de Hypoxanthin-Guanin-Phosphoribosyltransferase-Mangel Hypoxanthine guanine phosphoribosyltransferase complete deficiency Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV Lesch-Nyhan syndrome Lesch-Nyhan-Syndrom Sindrome di Lesch-Nyhan Syndrome de Lesch-Nyhan Síndrome de Lesch-Nyhan Síndrome de Lesch-Nyhan hrdo:pat_id_19700 251934 group of phenomes Mixed neuronal-glial tumor Tumeur mixte neuronale-gliale Tumor mixto neuronal-glial Tumor neuronal-glial misto Tumor, gemischter neuro-glialer Tumore misto neuronale-gliale hrdo:pat_id_19701 251937 disease Gangliocitoma Gangliocitoma Gangliocitoma Gangliocytoma Gangliocytome Gangliozytom hrdo:pat_id_19702 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 251940 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease DIA/DIG DIA/DIG DIA/DIG DIA/DIG DIA/DIG DIA/DIG Astrocitoma/ganglioglioma desmoplastico infantile Astrocitoma/ganglioglioma desmoplásico infantil Astrocitoma/ganglioglioma infantil desmoplásico Astrocytome/gangliogliome desmoplasique infantile Astrozytom/Gangliogliom, desmoplastischer, des Kindes Desmoplastic infantile astrocytoma/ganglioglioma hrdo:pat_id_19703 Variabel Variabile Variable Variable Variable Variable Variável 251946 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease DNET DNET DNET DNET DNET DNET Dysembryoplastic neuroepithelial tumor Tumeur neuroépithéliale dysembryoplasique Tumor neuroepitelial disembrioplásico Tumor neuroepitelial disembrioplásico Tumor, dysembryoplastischer neuroepithelialer Tumore neuroepiteliale disembrioplastico hrdo:pat_id_19704 251949 disease Gangliogliom Ganglioglioma Ganglioglioma Ganglioglioma Ganglioglioma Gangliogliome hrdo:pat_id_19705 251957 disease Anaplastic ganglioglioma Gangliogliom, anaplastisches Ganglioglioma anaplastico Ganglioglioma anaplásico Ganglioglioma anaplásico Gangliogliome anaplasique hrdo:pat_id_19706 251962 disease Ganglioglioneurocitoma pseudopapilar Ganglioglioneurocitoma pseudopapilar Ganglioglioneurocitoma pseudopapillare Ganglioglioneurocytoma pseudopapillaire Ganglioglioneurozytom, pseudopapilläres Neurocitoma pseudopapilar com diferenciação glial Neurocitoma pseudopapilar con diferenciación glial Neurocitoma pseudopapillare con differenziazione gliale Neurocytome pseudopapillaire à différenciation gliale Neurozytom, pseudopapilläres, mit glialer Differenzierung PGNT PGNT PGNT PGNT PGNT PGNT Pseudopapillary ganglioglioneurocytoma Pseudopapillary neurocytoma with glial differentiation Papillary glioneuronal tumor Tumeur glioneurale papillaire Tumor glioneural papilar Tumor glioneuronal papilar Tumor, glioneuraler papillärer Tumore glioneurale papillare hrdo:pat_id_19707 251975 disease DNT del cerebelo DNT del cervelletto DNT des Zerebellums DNT do cerebelo DNT du cervelet DNT of the cerebellum Dysembryoplastic neuroepithelial tumor of the cerebellum RGNT RGNT RGNT RGNT RGNT RGNT Tumeur neuroépithéliale dysembryoplasique du cervelet Tumor neuroepitelial disembrioplásico del cerebelo Tumor neuroepitelial disembrioplásico do cerebelo Tumor, dysembryoplastischer neuroepithelialer zerebellärer Tumore neuroepiteliale disembrioplastico del cervelletto Rosette-forming glioneuronal tumour of the fourth ventricule Tumeur glioneuronale formant des rosettes du quatrième ventricule Tumor glioneuronal formador de rosetas del cuarto ventrículo Tumor glioneuronal formador de rosetas do quarto ventrículo Tumor, glioneuraler rosettenbildender, des vierten Ventrikels Tumore glioneurale formante rosette del quarto ventricolo hrdo:pat_id_19708 251992 disease Ganglioneurom Ganglioneuroma Ganglioneuroma Ganglioneuroma Ganglioneurome Glanglioneuroma hrdo:pat_id_19709 251995 group of phenomes Keimzelltumor, primärer, des ZNS Primary germ cell tumor of the central nervous system Tumeur des cellules germinales primitive du système nerveux central Tumor das células germinativas pimárias do sistema nervoso central Tumor de células germinales primarias del sistema nervioso central Tumore primitivo delle cellule germinali del sistema nervoso centrale hrdo:pat_id_1971 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 112240 C535963 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Osteogenesis+Imperfecta+OR+Bone+fragility%29+craniosynostosis+proptosis+hydrocephalus Q78.0 2050 C1862178 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Bone fragility - craniosynostosis - proptosis - hydrocephalus Cole-Carpenter, síndrome de Fragilità ossea - craniosinostosi - proptosi - idrocefalo Fragilité osseuse - craniosynostose - proptose - hydrocéphalie Frágilidad ósea - craneosinostosis - proptosis- hidrocéfalo Knochenfragilität - Kraniosynostose - Proptosis - Hydrozephalus Síndrome de Cole-Carpenter Cole-Carpenter syndrome Cole-Carpenter-Syndrom Fragilidade óssea - craniossinostose - proptose - hidrocefalia Sindrome di Cole-Carpenter Syndrome de Cole-Carpenter Síndrome de Cole-Carpenter hrdo:pat_id_19710 252006 disease Dottersacktumor, intrakranialer Endodermal sinus tumor of the central nervous system Intracranial endodermal sinus tumor Intracranial yolk sac tumor Sinustumor, endodermaler Tumeur du sinus endodermique du système nerveux central Tumeur intracrânienne du sac vitellin Tumeur intracrânienne du sinus endodermique Tumor del seno endodérmico del sistema nervioso central Tumor do saco vitelino intracraniano Tumor do seio endodérmico do sistema nervoso central Tumor do seio endodérmico intracraniano Tumor intracraneal del saco vitelino Tumor intracraneal del seno endodérmico Tumore del seno endodermico del sistema nervoso centrale Tumore intracranico del sacco vitellino Tumore intracranico del seno endodermico Dottersacktumor des ZNS Tumeur du sac vitellin du système nerveux central Tumor del saco vitelino del sistema nervioso central Tumor do saco vitelino do sistema nervoso central Tumore del sacco vitellino del sistema nervoso centrale Yolk sac tumor of the central nervous system hrdo:pat_id_19711 252015 disease Choriocarcinoma of the central nervous system Choriocarcinome of the central nervous system Choriokarzinom des ZNS Coriocarcinoma del sistema nervioso central Coriocarcinoma del sistema nervoso centrale Coriocarcinoma do sistema nervoso central hrdo:pat_id_19712 252018 disease Teratom des ZNS Teratoma del sistema nervioso central Teratoma del sistema nervoso centrale Teratoma do sistema nervoso central Teratoma of the central nervous system Tératome du systeme nerveux central hrdo:pat_id_19713 252021 disease Keimzelltumoren, gemischte, des ZNS Mixed germ cell tumor of the central nervous system Tumeur mixte des cellules germinales du systeme nerveux central Tumor misto das células germinativas do sistema nervoso central Tumor mixto de células germinales del sistema nervioso central Tumore misto delle cellule germinali del sistema nervoso centrale hrdo:pat_id_19714 252025 group of phenomes Tumeur des méninges Tumor das meninges Tumor de las meninges Tumor of the meninges Tumore delle meningi Tumoren der Meningen hrdo:pat_id_19715 252028 group of phenomes Lesione melanocitica primitiva del sistema nervoso centrale Lesión melanocítica primaria del sistema nervioso central Lesão melanocítica primária do sistema nervoso central Lésion mélanocytaire primitive du système nerveux central Melanozytische Läsion, primäre, des ZNS Primary melanocytic lesion of the central nervous system Primary melanocytic tumor of the central nervous system Tumeur mélanocytaire primitive du système nerveux central Tumor melanocítico primario del sistema nervioso central Tumor melanocítico primário do sistema nervoso central Tumor, melanozytärer primärer ,des ZNS Tumore melanocitico primitivo del sistema nervoso centrale hrdo:pat_id_19716 252031 disease DLM DLM DLM DLM DLM DLM Leptomeningeal melanomatosis Melanomatose leptomeníngea Melanomatose, leptomeningeale Melanomatosi leptomeningea Melanomatosis leptomeníngea Mélanomatose leptoméningée Diffuse leptomeningeal melanocytosis Melanocitose leptomeníngea difusa Melanocitosi leptomeningea diffusa Melanocitosis leptomeníngea difusa Melanozytose, diffuse leptomeningeale Mélanocytose leptoméningée diffuse hrdo:pat_id_19717 252046 disease Melanocitoma meningeo Melanocitoma meníngeo Melanocitoma meníngeo Melanozytom, meningeales Meningeal melanocytoma Mélanocytome méningé hrdo:pat_id_19718 252050 disease Melanocitoma primario del sistema nervioso central Melanom, primäres, des ZNS Melanoma primitivo del sistema nervoso centrale Melanoma primário do sistema nervoso central Mélanome primitif du système nerveux central Primary melanoma of the central nervous system hrdo:pat_id_19719 252054 disease Emangioblastoma Hemangioblastoma Hemangioblastoma Hemangioblastoma Hämangioblastom Hémangioblastome hrdo:pat_id_1972 229230 neant Q87.8 2051 malformation syndrome Fraser-like syndrome Fraser-ähnliches Syndrom Sindrome Fraser-simile Syndrome Fraser-like Síndrome Fraser like Síndrome Fraser-like hrdo:pat_id_19720 252057 group of phenomes Rare tumor of cranial and spinal nerves Seltene Tumoren der kranialen und spinalen Nerven Tumeur rare des nerfs crâniens et rachidiens Tumeur rare des nerfs crâniens et spinaux Tumor raro de los nervios craneales y espinales Tumore raro dei nervi cranici e spinali Tumeur des nerfs crâniens et spinaux Tumor craniano raro dos nervos espinhais Tumor de los nervios craneales y espinales Tumor of cranial and spinal nerves Tumore dei nervi cranici e spinali Tumoren der kranialen und spinalen Nerven hrdo:pat_id_19722 252128 disease Malignant perineurioma Perineuriom, malignes Perineurioma maligno Perineurioma maligno Perineuroma maligno Périneuriome malin hrdo:pat_id_19723 252131 group of phenomes BPNST BPNST BPNST BPNST BPNST BPNST Benign peripheral nerve sheath tumor Nervenscheidentumor, benigner peripherer Tumeur bénine des gaines nerveuses périphériques Tumor benigno da bainha dos nervos periféricos Tumor benigno de vaina nerviosa periférica Tumore benigno delle guaine nervose periferiche hrdo:pat_id_19727 252164 disease Fibroblastoma periferico Fibroblastoma periférico Fibroblastoma periférico Fibroblastoma, peripheres Fibroblastome périphérique Neurilemmom Neurilemmoma Neurilemmoma Neurilemmome Neurilemom Neurilemoma Neurilemoma Neurilemoma Neurilemoma Neurilémome Neurolemmom Neurolemmoma Neurolemmoma Neurolemmome Neurolemoma Neurolemoma Peripheral fibroblastoma Benign schwannoma Schwannom, benignes Schwannoma benigno Schwannoma benigno Schwannoma benigno Schwannome bénin hrdo:pat_id_19728 252175 clinical subtype Acoustic neurilemoma Acoustic neurinoma Acoustic neuroma Akustikusneurinom Neurilemmoma del nervo acustico Neurilemoma acústico Neurilemoma do acústico Neurinoma acústico Neurinoma del nervo acustico Neurinoma do acústico Neuroma acústico Neuroma del nervo acustico Neuroma do acústico Schwannoma vestibular Schwannome vestibulaire Vestibularis-Schwannom Neurinome de l'acoustique Schwannom, vestibuläres Schwannoma vestibolare Schwannoma vestibular Schwannoma vestibular Vestibular schwannoma hrdo:pat_id_19729 252183 disease Neurofibrom Neurofibroma Neurofibroma Neurofibroma Neurofibroma Neurofibrome hrdo:pat_id_1973 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 609640 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=frias%5Btw%5D+OR+growth%5Bti%5D+facial%5Bti%5D+brachydactyl* Q87.0 2055 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Frias syndrome Frias, síndrome de Frias-Syndrom Sindrome di Frias Syndrome de Frias Síndrome de Frias Síndrome de Frias Atraso de crescimento - braquidactilia - face peculiar Growth deficiency - brachydactyly - dysmorphism Petite taille - brachydactylie - dysmorphie Problemas de crecimiento - braquidactilia - dismorfismo Ritardo della crescita - brachidattilia - dismorfismi Wachstumsstörungen - Brachydaktylie - Dysmorphien hrdo:pat_id_19730 252190 group of phenomes Inherited nervous system cancer-predisposing syndrome Krebsprädispositionssyndrom des Hirns, vererbtes Sindrome ereditaria da predisposizione ai tumori del sistema nervoso Syndrome familial avec prédisposition aux cancers du système nerveux Síndrome de predisposição a cancro hereditário do sistema nervoso Síndrome hereditario con predisposición a cáncer del sistema nervioso hrdo:pat_id_19731 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 276300 neant 252202 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease CMMR-D syndrome CMMR-D-Syndrom Sindrome CMMR-D Síndrome CMMR-D Constitutional mismatch repair deficiency syndrome Mismatch-Reparatur-Defizienz-Syndrom, konstitutionelles Sindrome da difetti del sistema di riparazione dei malappaiamenti Syndrome de déficit constitutionnel de la réparation des mésappariements Síndrome de deficiência constitucional da reparação dos erros de emparelhamento Síndrome de déficit constitucional de la reparación de errores de apareamiento hrdo:pat_id_19732 155755 neant 252206 disease Melanom - Nervensystemtumor-Syndrom Melanoma-astrocytoma syndrome Sindrome melanoma-astrocitoma Syndrome mélanome-astrocytome Síndrome melanoma - astrocitoma Síndrome melanoma-astrocitoma Melanom - Astrozytom-Syndrom Melanoma neural system tumor syndrome Sindrome melanoma-tumore del sistema nervoso Syndrome mélanome-tumeur du système nerveux Síndrome melanoma - tumor del sistema nervioso Síndrome melanoma-tumor do sistema neural hrdo:pat_id_19733 252212 clinical subtype MPNST avec différenciation rhabdomyosarcomateuse MPNST com diferenciação rabdomiossarcomatosa MPNST con diferenciación rabdomiosarcomatosa MPNST con differenziazione rabdomiosarcomatosa MPNST mit rhabdomyosarkomatöser Differenzierung MPNST with rhabdomyosarcomatous differentiation MTT MTT MTT MTT MTT Malignant peripheral nerve sheath tumor with rhabdomyosarcomatous differenciation Nervenscheidentumor, maligner peripherer, mit rhabdomyosarkomatöser Differenzierung TTM Tumeur maligne des gaines nerveuses avec différenciation rhabdomyosarcomateuse Tumor maligno da bainha dos nervos periféricos com diferenciação rabdomiossarcomatosa Tumor maligno de vaina nerviosa periférica con diferenciación rabdomiosarcomatosa Tumore maligno delle guaine nervose con differenziazione rabdomiosarcomatosa Malignant triton tumor Triton-Tumor, maligner Tumeur triton maligne Tumor tritão maligno Tumor tritón maligno Tumore maligno del tritone hrdo:pat_id_19736 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613641 neant G60.0 254334 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 RI-CMT Typ B RI-CMT tipo B RI-CMT type B RI-CMT type B RI-CMT type B RI-CMT, tipo B Autosomal recessive intermediate Charcot-Marie-Tooth disease type B Charcot-Marie-Tooth-Krankheit, intermediäre, autosomal-rezessive, Typ B Doença de Charcot-Marie-Tooth tipo B, intermédia, autossómica recessiva Enfermedad de Charcot-Marie-Tooth intermedia autosómica recesiva tipo B Maladie de Charcot-Marie-Tooth intermédiaire autosomique récessive type B Malattia di Charcot-Marie-Tooth, forma intermedia autosomica recessiva, tipo B hrdo:pat_id_19738 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 613672 neant G11.8 254343 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Ataxia espástica autosómica recesiva 4 Ataxie spastique autosomique récessive 4 Autosomal recessive spastic ataxia 4 SPAX4 SPAX4 SPAX4 Atassia spastica autosomica recessiva - atrofia ottica - disartria Ataxia espástica autossómica recessiva - atrofia óptica - disartria Ataxia espástica autosómica recesiva - atrofia óptica - disartria Ataxie spastique autosomique récessive - atrophie optique - dysarthrie Autosomal recessive spastic ataxia - optic atrophy - dysarthria Spastische Ataxie - Optikusatrophie - Dysarthrie, autosomal-rezessiv hrdo:pat_id_19739 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q93.5 254346 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Del(19)(p13.12) Del(19)(p13.12) Del(19)(p13.12) Del(19)(p13.12) Del(19)(p13.12) Monosomia 19p13.12 Monosomie 19p13.12 Monosomie 19p13.12 Monosomy 19p13.12 Monosomía 19p13.12 Monossomia 19q13.12 19p13.12 microdeletion syndrome Mikrodeletionssyndrom 19p13.12 Sindrome da microdelezione 19p13.12 Syndrome de microdélétion 19p13.12 Síndrome de microdeleción 19p13.12 Síndrome de microdeleção 19q13.12 hrdo:pat_id_1974 229400 601452 neant Q75.8 1791 malformation syndrome Displasia fronto-facio-nasale Displasia frontofacionasal Dysplasie fronto-facio-nasale Dysplasie, frontofazionasale Frontofacionasal dysplasia Gollop syndrome Gollop, síndrome de Gollop-Syndrom Oculo-auriculo-fronto-nasal syndrome Okulo-aurikulo-fronto-nasales Syndrom Sindrome di Gollop Sindrome oculo-auriculo-fronto-nasale Syndrome de Gollop Syndrome oculo-auriculo-fronto-nasal Síndrome de Gollop Síndrome de Gollop Síndrome de óculo-auriculo-fronto-nasal Síndrome oculo auriculo fronto nasal óculo-auriculo-fronto-nasal, síndrome de Disostose fronto-facio-nasal Disostosi fronto-facio-nasale Disostosis frontofacionasal Dysostose fronto-facio-nasale Dysostose, fronto-fazio-nasale Fronto-facio-nasal dysostosis hrdo:pat_id_19740 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613729 neant Q93.5 254351 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Del(7)(q11.23) Del(7)(q11.23) distale Del(7)(q11.23) distale Distal del(7)(q11.23) Distal del(7)(q11.23) Distal monosomy 7q11.23 Monosomia 7q11.23 distale Monosomia distale 7q11.23 Monosomie 7q11.23, distal Monosomie distale 7q11.23 Monosomía distal 7q11.23 Monossomia distal 7q11.23 Distal 7q11.23 microdeletion syndrome Mikrodeletionssyndrom 7q11.23, distal Sindrome da microdelezione 7q11.23 distale Syndrome de microdélétion distale 7q11.23 Síndrome de microdeleción distal 7q11.23 Síndrome de microdeleção distal 7q11.23 hrdo:pat_id_19742 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 613723 neant G71.0 254361 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency LGMD2Q LGMD2Q LGMD2Q LGMD2Q LGMD2Q LGMD2Q Autosomal recessive limb-girdle muscular dystrophy type 2Q Distrofia muscolare dei cingoli, autosomica recessiva, da deficit di plectina Distrofia muscular das cinturas por deficiência de plectina, autossómica recessiva Distrofia muscular de cinturas autosómica recesiva por déficit de plectina Dystrophie musculaire des ceintures autosomique récessive type 2Q Gliedergürtelmuskeldystrophie, autosomal-rezessive, durch Plectin-Mangel hrdo:pat_id_19743 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 151620 neant L43 254367 group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown LP rare LP raro LP raro LP, seltene Form Rare LP Lichen plan rare Lichen planus raro Lichen planus, seltener Liquen plano raro Líquen plano raro Rare lichen planus hrdo:pat_id_19744 neant L43 254370 group of phenomes LP cutaneo raro LP cutané rare LP cutâneo raro LP, kutaner, seltene Form Rare cutaneous LP Lichen plan cutané rare Lichen planus cutaneo raro Lichen planus, kutaner, seltener Liquen plano cutáneo raro Líquen plano cutâneo raro Rare cutaneous lichen planus hrdo:pat_id_19745 neant L43 254373 group of phenomes LP da mucosa raro LP muqueux rare LP raro delle mucose LP, muköser, seltene Form Rare mucosal LP Lichen plan muqueux rare Lichen planus raro delle mucose Lichen planus, mukosaler, seltener Liquen plano de la mucosa raro Líquen plano da mucosa raro Rare mucosal lichen planus hrdo:pat_id_19746 Variabel Variabile Variable Variable Variable Variable Variável neant L43.8 254379 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Blaschkoid LP Blaschkoid lichen planus Blaschkoider Lichen planus LP linear LP linear LP lineare LP linéaire LP, linearer Lichen plan Blaschko-linéaire Linear LP Lichen piano lineare Lichen plan linéaire Lichen planus linearis Linear lichen planus Liquen plano lineal Líquen plano linear hrdo:pat_id_19747 Variabel Variabile Variable Variable Variable Variable Variável neant L43.8 254395 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Actinic LP Aktinisches lichenoides Sommerexanthem Erupción liquenoide actínica estival Eruption lichénoïde actinique estivale Erupção liquenóide actínica do verão Eruzione lichenoide actinica estiva LP actinique LP actínico LP attinico LP, aktinischer Lichen plan solaire Lichen plan subtropical Lichen plan tropical Lichen plan tropicalis Lichen planus actinus Lichen planus actinus Lichen planus subtropicale Lichen planus subtropicus Lichen planus subtropicus Lichen planus tropicale Lichen planus tropicalis Lichen planus tropicus Lichenoid melanodermatitis Liquen plano subtropical Liquen plano tropical Líquen plano actínico Líquen plano subtropical Líquen plano tropical Melanodermatite lichenoide Melanodermatite liquenóide Melanodermatitis liquenoide Melanodermatitis, lichenoide Mélanodermatite lichénoïde Summertime actinic lichenoid eruption Actinic lichen planus Lichen plan actinique Lichen planus actinicus Lichen planus attinico Liquen plano actínico Líquen plano actínico hrdo:pat_id_19748 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant L43.8 254411 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Annular atrophic LP LP annulaire atrophique LP atrofico anulare LP atrófico anular LP, anulärer atrophischer Annular atrophic lichen planus Lichen plan annulaire atrophique Lichen planus atrofico anulare Lichen planus atrophicans Liquen plano anular atrófico Líquen plano atrófico anular hrdo:pat_id_19749 Variabel Variabile Variable Variable Variable Variable Variável neant L43.8 254424 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Annular LP LP annulaire LP anular LP anulare LP, anulärer Annular lichen planus Lichen plan annulaire Lichen planus anulare Lichen planus anularis Liquen plano anular Líquen plano anular hrdo:pat_id_1975 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 305620 C538064 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Frontometaphyseal+OR+Fronto+metaphyseal%29+dysplasia Q78.5 1826 62803002 C0265293 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia fronto-metafísária Displasia frontometafisaria Displasia frontometafisaria Dysplasie fronto-métaphysaire Dysplasie, fronto-metaphysäre Frontometaphyseal dysplasia hrdo:pat_id_19750 Variabel Variabile Variable Variable Variable Variable Variável neant L43.8 254449 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Atrophic LP LP atrofico LP atrophique LP atrófico LP, atrophischer Atrophic lichen planus Lichen plan atrophique Lichen planus atrofico Lichen planus atrophicans Liquen plano atrófico Líquen plano atrófico hrdo:pat_id_19751 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant L43.8 254463 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown LP pigmentaire LP pigmentosa LP pigmentosa LP pigmentosa LP pigmentosa LP pigmentosa LP pigmentoso LP pigmentoso LP pigmentosus LP pigmentosus LP, pigmentöser Lichen plan pigmentaire et inversé Lichen plan pigmentosa Lichen plan pigmentosa Lichen plan pigmentosus Lichen planus pigmentosa Lichen planus pigmentosus Lichen planus pigmentosus inversus Lichen planus pigmentosus inversus Lichen planus pigmentosus inversus Liquen plano pigmentoso inverso Líquen plano pigmentoso Lichen piano pigmentoso Lichen plan pigmentaire Lichen planus pigmentosus Lichen planus pigmentosus Liquen plano pigmentoso Líquen plano pigmentoso hrdo:pat_id_19752 Variabel Variabile Variable Variable Variable Variable Variável neant L43.8 254478 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown LP pemfigoide LP pemphigoides LP pemphigoïde LP penfigóide LP, pemphigoider Lichen plan pemphigoïde Lichen planus pemfigoide Lichen planus pemphigoides Lichen planus pemphigoides Liquen plano penfigoide Líquen plano penfigóide hrdo:pat_id_19753 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant L66.1 254492 clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown FFA FFA FFA FFA FFA FFA Alopecia fibrosante frontal Alopecia fibrosante frontale Alopecia frontal fibrosante Alopezie, fibrosierende frontale Alopécie frontale fibrosante Frontal fibrosing alopecia hrdo:pat_id_19754 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant A05.1 254504 clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Botulismo por inalação Inhalation botulism Botulisme par inhalation Botulismo da inalazione Botulismo inalatório Botulismo por inhalación Botulismus, inhalativer Inhalational botulism hrdo:pat_id_19755 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável neant A05.1 254509 clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Botulismo acidental Botulismo involontario Inadvertent botulism Botulisme iatrogène Botulismo iatrogeno Botulismo iatrogénico Botulismo iatrogénico Botulismus, iatrogener Iatrogenic botulism hrdo:pat_id_19756 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 254516 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso do desenvolvimento motor por anomalia nos genes de expressão paterna localizados em 14q32.2 Entwicklungsstörung, motorische, durch 14q32.2 paternal exprimierten Gendefekt Motor developmental delay due to 14q32.2 paternally expressed gene defect Retard de développement moteur dû à un défaut d'expression des gènes paternels en 14q32.2 Retraso del desarrollo motor debido a un defecto de expresión de los genes paternos en 14q32.2 Ritardo dello sviluppo motorio da difetto di espressione dei geni paterni in 14q32.2 hrdo:pat_id_19757 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 254519 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 MCA bei 14q32.2 maternal exprimierten Gendefekt MCA da difetto di espressione dei geni materni in 14q32.2 MCA due to 14q32.2 maternally expressed gene defect MCA por anomalia nos genes de expressão materna localizados em 14q32.2 Anomalias congénitas múltiplas por anomalia nos genes de expressão materna localizados em 14q32.2 Anomalie congenite multiple da difetto di espressione dei geni materni in 14q32.2 Anomalies congénitales multiples dues à un défaut d'expression des gènes maternels en 14q32.2 Anomalías congénitas múltiples debido a un defecto de expresión de los genes maternos 14q32.2 Multiple congenital anomalies due to 14q32.2 maternally expressed gene defect Multiple kongenitale Anomalien durch 14q32.2 maternal exprimierten Gendefekt hrdo:pat_id_19758 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q93.5 254525 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch etiological subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Del (14)(q32.2) paterna Del (14)(q32.2) paterna Del (14)(q32.2) paternelle Del (14)(q32.2), paternal Monosomia 14q32.2 paterna Monosomie 14q32.2, paternal Monosomie paternelle 14q32.2 Monosomía paterna 14q32.2 Paternal del (14)(q32.2) Paternal monosomy 14q32.2 Mikrodeletionssyndrom 14q32.2, paternal Paternal 14q32.2 microdeletion syndrome Sindrome da microdelezione 14q32.2 paterna Syndrome de microdélétion paternelle 14q32.2 Síndrome da microdeleção paterna 14q32.2 Síndrome de microdeleción paterna 14q32.2 hrdo:pat_id_19759 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q93.5 254528 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch etiological subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Del (14)(q32.2), maternal Del(14)(q32.2) materna Del(14)(q32.2) materna Del(14)(q32.2) maternelle Maternal del(14)(q32.2) Maternal monosomy 14q32.2 Monosomia 14q32.2 materna Monosomie 14q32.2, maternal Monosomie maternelle 14q32.2 Monosomía 14q32.2 materna Maternal 14q32.2 microdeletion syndrome Mikrodeletionssyndrom 14q32.2, maternal Sindrome da microdelezione 14q32.2 materna Syndrome de microdélétion maternelle 14q32.2 Síndrome da microdeleção materna 14q32.2 Síndrome de microdeleción materna 14q32.2 hrdo:pat_id_1976 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 136760 C538065 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Frontonasal+OR+Fronto+nasal%5Btw%5D%29+dysplasia Q75.8 250 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Median cleft syndrome Sindrome della schisi mediana Syndrom der medianen Gesichtsspalte Syndrome de la fente faciale médiane Síndrome de la fisura media Displasia fronto-nasal Displasia frontonasal Displasia frontonasale Dysplasie fronto-nasale Dysplasie, fronto-nasale Frontonasal dysplasia hrdo:pat_id_19760 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 254531 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch etiological subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 14q32.2 Hypomethylierungs-Syndrom, paternales Paternal 14q32.2 hypomethylation syndrome Sindrome da ipometilazione paterna 14q32.2 Syndrome d'hypométhylation paternelle 14q32.2 Síndrome da hipometilação paterna 14q32.2 Síndrome de hipometilación 14q32.2 paterno hrdo:pat_id_19761 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q99.8 254534 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch etiological subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 14q32.2 Hypomethylierungs-Syndrom, maternales Maternal 14q32.2 hypermethylation syndrome Sindrome da ipermetilazione materna 14q32.2 Syndrome d'hyperméthylation maternelle 14q32.2 Síndrome da hipermetilação materna 14q32.2 Síndrome de hipermetilación 14q32.2 materno hrdo:pat_id_19762 254685 group of phenomes Doença trofoblástica gestacional Enfermedad trofoblástica gestacional Gestational trophoblastic disease Maladie trophoblastique gestationnelle Malattia trofoblastica gestazionale Trophoblastkrankheit, gestationsbedingte hrdo:pat_id_19763 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 231090 614293 neant O01.0 254688 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Blasenmole, vollständige Complete molar pregnancy Embarazo molar completo Gravidanza molare completa Gravidez molar completa Grossesse môlaire complète Complete hydatidiform mole Mola hidatidiforme completa Mola hidatidiforme completa Mola idatiforme completa Mole, hydatiforme komplette Môle hydatidiforme complète hrdo:pat_id_19764 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant O01.1 254693 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Blasenmole, inkomplette Embarazo molar parcial Gravidanza molare parziale Gravidez molar parcial Grossesse môlaire incomplète Grossesse môlaire partielle Incomplete hydatidiform mole Incomplete molar pregnancy Môle hydatidiforme incomplète Partial molar pregnancy Mola hidatidiforme parcial Mola hidatiforme parcial Mola idatiforme parziale Mole, hydatiforme partielle Môle hydatidiforme partielle Partial hydatidiform mole hrdo:pat_id_19765 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 254698 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Epithelioid trophoblastic tumor Trophoblasttumor, epitheloider Tumeur trophoblastique épithélioïde Tumor trofoblástico epitelioide Tumor trofoblástico epitelióide Tumore trofoblastico epitelioide hrdo:pat_id_19766 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis 254704 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Genetic hyperferritinemia without iron overload Hiperferritinemia genética sem sobrecarga de ferro Hiperferritinemia genética sin sobrecarga de hierro Hyperferritinämie, hereditäre, ohne Eisenüberladung Hyperferritinémie génétique sans surcharge en fer Iperferritinemia genetica senza sovraccarico di ferro hrdo:pat_id_19767 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 602782 neant D76.3 254707 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 FHC FHC FHC FHC FHC FHC Faisalabad histiocytosis Faisalabad-Histiozytose Histiocitose de Faisalabad Histiocitosis de Faisalabad Histiocytose de Faisalabad Istiocitosi di Faisalabad hrdo:pat_id_19768 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant D76.3 254712 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Doença de Rosaï-Dorfman familiar Enfermedad de Rosaï-Dorfman familiar Familial Rosaï-Dorfman disease Familial SHML HSLM familiale Maladie de Rosaï-Dorfman familiale Malattia familiare di Rosaï-Dorfman Rosaï-Dorfman-Krankheit, familiäre SHML familiale SHML familiar SHML familiar SHML familiare SHML, familiär Familial sinus histiocytosis with massive lymphadenopathy Histiocitose sinusal familiar com linfadenopatia maciça Histiocitosis sinusal familiar con linfadenopatía masiva Histiocytose sinusale familiale avec lymphadénopathie massive Istiocitosi sinusale familiare associata a linfadenopatia massiva Sinushistiozytose, familiäre, mit massiver Lymphadenopathie hrdo:pat_id_19769 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 602782 neant 254723 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 PHID PHID PHID PHID PHID PHID Hipertricosis pigmentada con diabetes insulino dependiente Hypertrichose pigmentée avec diabète insulino-dépendant Hypertrichose, pigmentierte, mit Insulin-abhängigen Diabetes mellitus-Syndrom Ipertricosi pigmentata associata a sindrome da diabete mellito insulino-dipendente Pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome Síndrome de hipertricose pigmentada com diabetes mellitus insulinodependente hrdo:pat_id_19770 neant E74.4 254746 group of phenomes Anomalie du métabolisme du pyruvate Difetto del metabolismo del piruvato Doença do metabolismo do piruvato Pyruvat-Stoffwechselstörung Pyruvate metabolism disorder Trastorno del metabolismo del piruvato hrdo:pat_id_19771 neant E88.8 254749 group of phenomes Anomalie du cycle de Krebs Anomalie du cycle de l'acide citrique Anomalie du cycle des TCA Citric acid cycle disorder Difetto del ciclo degli TCA Difetto del ciclo dell'acido citrico Difetto del ciclo di Krebs Doença do ciclo TCA Doença do ciclo de Krebs Doença do ciclo do ácido cítrico Krankheiten des Tricarbonsäurezyklus Krebs cycle disorder TCA cycle disorder Trastorno del ciclo de Krebs Trastorno del ciclo de los TCA Trastorno del ciclo del ácido cítrico Anomalie du cycle des acides tricarboxyliques Difetto del ciclo degli acidi tricarbossilici Doença do ciclo do ácido tricarboxílico Trastorno del ciclo de los ácidos tricarboxílicos Tricarboxylic acid cycle disorder Zitronensäurezyklusstörung hrdo:pat_id_19772 254758 group of phenomes Anomalie de la phosphorylation oxydative mitochondriale due à des anomalies de l'ADNmt Difetto della fosforilazione ossidativa mitocondriale da anomalie del mtDNA Doença da OXPHOS por anomalias no DNA mitocondrial Doença da OXPHOS por anomalias no mtDNA Doença da fosforilação oxidativa mitocondrial por anomalias no mtDNA Enfermedad OXPHOS debida a anomalías del ADN mitocondrial Enfermedad OXPHOS debida a anomalías del ADNmt Maladie OXPHOS due à des anomalies de l'ADN mitochondrial Maladie OXPHOS due à des anomalies de l'ADNmt Malattia OXPHOS da anomalie del DNA mitocondriale Malattia OXPHOS da anomalie del mtDNA Mitochondrial oxidative phosphorylation disorder due to mtDNA anomalies OXPHOS disease due to mitochondrial DNA anomalies OXPHOS disease due to mtDNA anomalies OXPHOS-Defekt durch mtDNA-Anomalien OXPHOS-Krankheit durch mitochondriale DNA-Anomalien Störung der oxidativen Phosphorylierung (OXPHOS) durch mtDNA-Anomalien Trastorno de la fosforilación oxidativa mitocondrial debido a anomalías del ADNmt Anomalie de la phosphorylation oxydative mitochondriale due à des anomalies de l'ADN mitochondrial Difetto della fosforilazione ossidativa mitocondriale da anomalie del DNA mitocondriale Doença da fosforilação oxidativa mitocondrial por anomalias no DNA mitocondrial Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies Mitochondriale Störungen der oxidativen Phosphorylierung durch Anomalien der mitochondrialen DNA Trastorno de la fosforilación oxidativa mitocondrial debido a anomalías del ADN mitocondrial hrdo:pat_id_19773 254767 group of phenomes Anomalie de la phosphorylation oxydative mitochondriale due à une délétion unique de l'ADNmt Difetto della fosforilazione ossidativa mitocondriale da delezione singola a grande scala del mtDNA Doença da OXPHOS por uma grande deleção no DNA mitocondrial Doença da OXPHOS por uma grande deleção no mtDNA Doença da fosforilação oxidativa mitocondrial por uma grande deleção no mtDNA Enfermedad OXPHOS debida a una deleción única de ADN mitocondrial a gran escala Enfermedad OXPHOS debida a una deleción única de ADN mt a gran escala Maladie OXPHOS due à une délétion unique de l'ADN mitochondrial Maladie OXPHOS due à une délétion unique de l'ADNmt Malattia OXPHOS da delezione singola a grande scala del DNA mitocondriale Malattia OXPHOS da delezione singola a grande scala del mtDNA Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA OXPHOS disease due to a large-scale single deletion of mitochondrial DNA OXPHOS disease due to a large-scale single deletion of mtDNA OXPHOS-Defekt durch umfangreiche Einzeldeletionen der mtDNA OXPHOS-Krankheit durch umfangreiche Einzeldeletionen der mitochondrialen DANN Störung der oxidativen Phosphorylierung (OXPHOS) durch umfangreiche Einzeldeletionen der mtDNA Trastorno de la fosforilación oxidativa mitocondrial debido a una deleción única de ADNmt a gran escala Anomalie de la phosphorylation oxydative mitochondriale due à une délétion unique de l'ADN mitochondrial Difetto della fosforilazione ossidativa mitocondriale da delezione singola a grande scala del DNA mitocondriale Doença da fosforilação oxidativa mitocondrial por uma grande deleção no DNA mitocondrial Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA Mitochondriale Störungen der oxidativen Phosphorylierung durch umfangreiche Einzeldeletionen der mitochondrialen DNA Trastorno de la fosforilación oxidativa mitocondrial debido a una deleción única de ADN mitocondrial a gran escala hrdo:pat_id_19774 254776 group of phenomes Anomalie de la phosphorylation oxydative mitochondriale due à une mutation ponctuelle de l'ADNmt Difetto della fosforilazione ossidativa mitocondriale da mutazione puntiforme del mtDNA Doença da OXPHOS por mutação pontual no DNA mitocondrial Doença da OXPHOS por mutação pontual no mtDNA Doença da fosforilação oxidativa mitocondrial por mutação pontual no mtDNA Enfermedad OXPHOS debida a una mutación puntual del ADN mitocondrial Enfermedad OXPHOS debida a una mutación puntual del ADNmt Maladie OXPHOS due à une mutation ponctuelle de l'ADN mitochondrial Maladie OXPHOS due à une mutation ponctuelle de l'ADNmt Malattia OXPHOS da mutazione puntiforme del DNA mitocondriale Malattia OXPHOS da mutazione puntiforme del mtDNA Mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA OXPHOS disease due to a point mutation of mitochondrial DNA OXPHOS disease due to a point mutation of mtDNA OXPHOS-Defekt durch Punktmutation der mtDNA OXPHOS-Krankheit durch Punktmutation der mitochondrialen DANN Störung der oxidativen Phosphorylierung (OXPHOS) durch Punktmutation der mtDNA Trastorno de la fosforilación oxidativa mitocondrial debido a una mutación puntual del ADNmt Anomalie de la phosphorylation oxydative mitochondriale due à une mutation ponctuelle de l'ADN mitochondrial Difetto della fosforilazione ossidativa mitocondriale da mutazione puntiforme del DNA mitocondriale Doença da fosforilação oxidativa mitocondrial por mutação pontual no DNA mitocondrial Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA Mitochondriale Störungen der oxidativen Phosphorylierung durch Punktmutation der mitochondrialen DNA Trastorno de la fosforilación oxidativa mitocondrial debido a una mutación puntual del ADN mitocondrial hrdo:pat_id_19775 254788 group of phenomes Maternally-inherited mitochondrial myopathy Miopatia mitocondrial com hereditariedade materna Miopatia mitocondriale a trasmissione materna Miopatía mitocondrial de transmisión materna Mitochondriale Myopathie, maternal vererbte Myopathie mitochondriale de transmission maternelle hrdo:pat_id_19776 254793 group of phenomes Anomalie de la phosphorylation oxydative mitochondriale due à une duplication Difetto della fosforilazione ossidativa mitocondriale da duplicazione del mtDNA Doença da OXPHOS por duplicação no DNA mitocondrial Doença da OXPHOS por duplicação no mtDNA Doença da fosforilação oxidativa mitocondrial por duplicação no mtDNA Enfermedad OXPHOS debida a una duplicación del ADN mitocondrial Enfermedad OXPHOS debida a una duplicación del ADNmt Maladie OXPHOS due à une duplication de l'ADN mitochondrial Maladie OXPHOS due à une duplication de l'ADNmt Malattia OXPHOS da duplicazione del DNA mitocondriale Malattia OXPHOS da duplicazione del mtDNA Mitochondrial oxidative phosphorylation disorder due to a duplication of mtDNA OXPHOS disease due to a duplication of mitochondrial DNA OXPHOS disease due to a duplication of mtDNA OXPHOS-Defekt durch Duplikation der mtDNA OXPHOS-Krankheit durch Duplikation der mitochondrialen DNA Störung der oxidativen Phosphorylierung (OXPHOS) durch Duplikation der mtDNA Trastorno de la fosforilación oxidativa mitocondrial debido a una duplicación del ADNmt Anomalie de la phosphorylation oxydative mitochondriale due à une duplication de l'ADN mitochondrial Difetto della fosforilazione ossidativa mitocondriale da duplicazione del DNA mitocondriale Doença da fosforilação oxidativa mitocondrial por duplicação no DNA mitocondrial Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA Mitochondriale Störungen der oxidativen Phosphorylierung durch Duplikation der mitochondrialen DNA Trastorno de la fosforilación oxidativa mitocondrial debido a una duplicación del ADN mitocondrial hrdo:pat_id_19777 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 612073 612075 neant 254803 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Sindrome da deplezione del mtDNA, forma encefalomiopatica Syndrome de déplétion de l'ADNmt forme encéphalomyopathique Síndrome de depleción del ADNmt, forma encefalomiopática Síndrome de depleção do mtDNA, forma encefalomiopática mtDNA depletion syndrome, encephalomyopathic form mtDNA-Depletionssyndrom, enzephalomyopathische Form Mitochondrial DNA depletion syndrome, encephalomyopathic form Mitochondriales DNA-Depletionssyndrom, enzephalomyopathische Form Sindrome da deplezione del DNA mitocondriale, forma encefalomiopatica Syndrome de déplétion de l'ADN mitochondrial forme encéphalomyopathique Síndrome de depleción del ADN mitocondrial, forma encefalomiopática Síndrome de depleção do DNA mitocondrial, forma encefalomiopática hrdo:pat_id_19778 254807 group of phenomes Multiple mtDNA deletion syndrome Syndrome de délétions multiples de l'ADNmt Síndrome de deleción múltiple del ADNmt Síndrome de deleções múltiplas do mtDNA mtDNA-Depletionssyndrom, multiples Mitochondriales DNA-Depletionssyndrom, multiples Multiple mitochondrial DNA deletion syndrome Sindrome da delezioni multiple del DNA mitocondriale Syndrome de délétions multiples de l'ADN mitochondrial Síndrome de deleción múltiple del ADN mitocondrial Síndrome de deleções múltiplas do DNA mitocondrial hrdo:pat_id_19779 254818 group of phenomes Ataxia neuropathy spectrum Ataxie-Neuropathie-Spektrum Espectro ataxia neuropatia Espectro ataxia neuropatía Spectre ataxie neuropathie Spettro atassia neuropatia hrdo:pat_id_1978 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 210745 neant Q87.8 2057 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Blefarofimose - ptose - esotropia - sindactilia - baixa estatura Frydman-Cohen-Karmon syndrome Frydman-Cohen-Karmon-Syndrom Sindrome di Frydman-Cohen-Karmon Syndrome de Frydman-Cohen-Karmon Síndrome de Frydman-Cohen-Karmon Blefarofimosi - ptosi - esotropia - sindattilia - bassa statura Blefarofimosis - ptosis - esotropía - sindactilia- estatura baja Blepharophimose - Ptosis - Esotropie - Syndaktylie - Kleinwuchs Blepharophimosis - ptosis - esotropia - syndactyly - short stature Blépharophimosis - ptosis - ésotropie - syndactylie - petite taille Síndrome de Frydman-Cohen-Karmon hrdo:pat_id_19780 254822 group of phenomes Doença da OXPHOS sem mecanismo conhecido Enfermedad OXPHOS de mecanismo desconocido Maladie OXPHOS de mécanisme inconnu Malattia OXPHOS da meccanismo sconosciuto OXPHOS disease with no known mechanism OXPHOS-Krankheit ohne bekannte Ursache Anomalie de la phosphorylation oxydative mitochondriale de mécanisme inconnu Difetto della fosforilazione ossidativa mitocondriale da meccanismo sconosciuto Doença da fosforilação oxidativa mitocondrial de mecanismo desconhecido Mitochondrial oxidative phosphorylation disorder with no known mechanism Mitochondriale Störungen der oxidativen Phosphorylierung mit unbekanntem Mechanismus Trastorno de la fosforilación oxidativa mitocondrial de mecanismo desconocido hrdo:pat_id_19781 254827 group of phenomes Anomalie de transport membranaire mitochondrial Difetto del trasporto nelle membrane mitocondriali Doença do transporte membranar mitocondrial Mitochondrial membrane transport disorder Störungen der Mitochondrienmembran (Transport) Trastorno en el transporte de la membrana mitocondrial hrdo:pat_id_19782 254830 group of phenomes Anomalie des tranporteurs membranaires mitochondriaux Difetto dei trasportatori della membrana mitocondriale Doença do transportador de substrato mitocondrial Mitochondrial substrate carrier disorder Störungen der mitochondrialen Substrat-Transporter Trastorno de los transportadores de la membrana mitocondrial hrdo:pat_id_19783 254834 group of phenomes Anomalie d 'import des protéines mitochondriales Difetto dell'importo delle proteine mitocondriali Doença da importação protéica mitocondrial Mitochondrial protein import disorder Störungen der mitochondrialen Proteinimports Trastorno de la importación de proteínas mitocondriales hrdo:pat_id_19784 254837 group of phenomes Anomalia mitocondriale non specificata Anomalie mitochondriale non spécifiée Doença mitocondrial não específica Mitochondriale Krankheit, unspezifische Trastorno mitocondrial no especificado Unspecified mitochondrial disorder hrdo:pat_id_19786 254843 group of phenomes Belastungsintoleranz mit Laktatazidose Exercise intolerance with lactic acidosis Intolerancia al ejercicio con acidosis láctica Intolerância ao exercício com acidose láctica Intolleranza all'esercizio con acidosi lattica Intolérance à l'effort avec acidose lactique hrdo:pat_id_19787 254846 group of phenomes Anomalie isolée d'un complexe de la chaïne respiratoire mitochondriale Atmungskettenkomplex, isolierte Störung Difetto isolato di un complesso della catena respiratoria mitocondriale Doença isolada do complexo da cadeia respiratória Isolated respiratory chain complex disorder Trastorno aislado de un complejo de la cadena respiratoria mitocondrial Anomalie isolée d'un complexe de la phosphorylation oxydative Difetto isolato di un complesso della fosforilazione ossidativa Doença isolada do complexo da fosforilação oxidativa Isolated oxidative phosphorylation complex disorder Störungen der oxidativen Phosphorylierung, isolierte Trastorno aislado de un complejo de la fosforilación oxidativa hrdo:pat_id_19788 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 254851 Herencia mitocondrial Hérédité mitochondriale Mitochondrial inheritance Mitochondrial inheritance Mitochondriale Vererbung Modo de hereditariedade mitocondrial Trasmissione mitocondriale disease Distonia mitocondrial com hereditariedade materna Distonia mitocondriale a trasmissione materna Distonía mitocondrial de transmisión materna Dystonie mitochondriale de transmission maternelle Maternally-inherited mitochondrial dystonia Mitochondriale Dystonie, maternal vererbte hrdo:pat_id_19789 254854 Herencia mitocondrial Hérédité mitochondriale Mitochondrial inheritance Mitochondrial inheritance Mitochondriale Vererbung Modo de hereditariedade mitocondrial Trasmissione mitocondriale disease Miopatia mitocondrial pura Miopatia mitocondriale pura Miopatía mitocondrial pura Myopathie mitochondriale pure Myopathie, mitochondriale, reine Pure mitochondrial myopathy hrdo:pat_id_1979 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 229850 C538070 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Fryns%5Bti%5D+syndrome Q87.8 2059 C0220730 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Diaphragmatic hernia - abnormal face - distal limb anomalies Ernia diaframmatica - anomalie facciali Hernie diaphragmatique - faciès anormal Hérnia diafragmática - face peculiar - anomalias distais dos membros Zwerchfellhernie - Gesichtsanomalien Fryns syndrome Fryns-Syndrom Sindrome di Fryns Syndrome de Fryns Síndrome de Fryns Síndrome de Fryns hrdo:pat_id_19790 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 551000 neant 254857 Herencia mitocondrial Hérédité mitochondriale Mitochondrial inheritance Mitochondrial inheritance Mitochondriale Vererbung Modo de hereditariedade mitocondrial Trasmissione mitocondriale disease Doença mitocondrial infantil letal Enfermedad mitocondrial letal infantil LIMD LIMD LIMD LIMD LIMD LIMD Lethal infantile mitochondrial disease Maladie mitochondriale létale infantile Malattia mitocondriale infantile letale Mitochondriopathie, infantile letale Lethal infantile mitochondrial myopathy Miopatia mitocondrial infantil letal Miopatia mitocondriale infantile letale Miopatía mitocondrial letal infantil Myopathie, letale mitochondriale, des Kindes Myopathy mitochondriale létale infantile hrdo:pat_id_19791 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 500009 neant 254864 Herencia mitocondrial Hérédité mitochondriale Mitochondrial inheritance Mitochondrial inheritance Mitochondriale Vererbung Modo de hereditariedade mitocondrial Trasmissione mitocondriale disease Atmungsketten-Störung, infantile reversible Form Benign COX deficiency COX-Mangel, beninger Cytochrom-C-Oxidase-Mangel des Kindes, reversibel Deficiencia benigna de COX Deficiencia de citocromo C oxidasa infantil reversible Deficiencia de la cadena respiratoria infantil reversible Deficit begnigno di COX Deficit reversbile infantile della citocromo C ossidasi Deficit reversibile infantile della catena respiratoria Déficit benigno de COX Déficit de citocromo C oxidasa infantil reversible Déficit de la cadena respiratoria infantil reversible Infantile reversible cytochrome c oxidase deficiency myopathy Miopatia con deficit reversibile infantile della citocromo C ossidasi Miopatia mitocondrial com deficiência reversível da COX Miopatia mitocondrial com deficiência reversível do complexo IV Miopatia mitocondriale con deficit reversibile del complesso IV Miopatia mitocondriale con deficit reversibile di COX Miopatía con deficiencia de citocromo C oxidasa reversible infantil Miopatía con déficit de citocromo C oxidasa reversible infantil Miopatía mitocondrial con deficiencia reversible de COX Miopatía mitocondrial con deficiencia reversible de citocromo C oxidasa Miopatía mitocondrial con deficiencia reversible de complejo IV Miopatía mitocondrial con déficit reversible de COX Miopatía mitocondrial con déficit reversible de complejo IV Mitochondrial myopathy with reversible COX deficiency Mitochondrial myopathy with reversible complex IV deficiency Myopathie mitochondriale avec déficit réversible en COX Myopathie mitochondriale avec déficit réversible en complexe IV Myopathie, mitochondriale, mit reversiblem COX-Mangel Myopathie, mitochondriale, mit reversiblem Komplex IV-Mangel Reversible infantile cytochrome c oxidase deficiency Reversible infantile respiratory chain deficiency Miopatia mitocondrial com deficiência reversível da citocromo C oxidase Miopatia mitocondriale con deficit reversibile della citocromo C ossidasi Miopatía mitocondrial con déficit reversible de citocromo C oxidasa Mitochondrial myopathy with reversible cytochrome C oxidase deficiency Myopathie mitochondriale avec déficit en cytochrome C oxydase réversible Myopathie, mitochondriale, mit reversiblem Cytochrom-C-Oxidase-Mangel hrdo:pat_id_19792 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant 254871 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo group of phenomes Déplétion de l'ADNmt forme hépatocérébrale Sindrome da deplezione del mtDNA, forma epatocerebrale Síndrome de depleción del ADNmt forma hepatocerebral Síndrome de depleção do mtDNA, forma hepatocerebral mtDNA depletion syndrome, hepatocerebral form mtDNA-Depletionssyndrom, hepatozerebrales Déplétion de l'ADN mitochondrial forme hépatocérébrale Mitochondrial DNA depletion syndrome, hepatocerebral form Mitochondriales DNA-Depletionssyndrom, hepatozerebrale Form Sindrome da deplezione del DNA mitocondriale, forma epatocerebrale Síndrome de depleción del ADN mitocondrial, forma hepatocerebral Síndrome de depleção do DNA mitocondrial, forma hepatocerebral hrdo:pat_id_19793 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 609560 neant 254875 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Déplétion de l'ADNmt forme myopathique Sindrome da deplezione del mtDNA, forma miopatica Síndrome de depleción del ADNmt forma miopática Síndrome de depleção do mtDNA, forma miopática mtDNA depletion syndrome, myopathic form mtDNA-Depletionssyndrom, myopathisches Déplétion de l'ADN mitochondrial forme myopathique Mitochondrial DNA depletion syndrome, myopathic form Mitochondriales DNA-Depletionssyndrom, myopathische Form Sindrome da deplezione del DNA mitocondriale, forma miopatica Síndrome de depleción del ADN mitocondrial, forma miopática Síndrome de depleção do DNA mitocondrial, forma miopática hrdo:pat_id_19794 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 607459 neant 254881 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Ataxia espinocerebelosa mitocondrial con epilepsia Ataxie spinocérébelleuse mitochondriale avec épilepsie MSCAE MSCAE MSCAE Mitochondrial spinocerebellar ataxia with epilepsy SCAE SCAE SCAE SCAE SCAE SCAE Atassia spinocerebellare con epilessia Ataxia espinocerebelosa com epilepsia Ataxia espinocerebelosa con epilepsia Ataxie spinocérébelleuse avec épilepsie Spinocerebellar ataxia with epilepsy Spinozerebelläre Ataxie mit Epilepsie hrdo:pat_id_19795 Variabel Variabile Variable Variable Variable Variable Variável 258450 neant 254886 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease OEPar arPEO arPEO arPEO arPEO arPEO arPEO Autosomal recessive progressive external ophthalmoplegia Oftalmoplegia esterna progressiva autosomica recessiva Oftalmoplegia externa progressiva, autossómica recessiva Oftalmoplejía externa progresiva autosómica recesiva Ophtalmoplégie externe progressive autosomique récessive Ophthalmoplegie, externe progressive, autosomal-rezessive hrdo:pat_id_19796 157640 609283 609286 610131 613077 615156 neant 254892 disease OEPad adPEO adPEO adPEO adPEO adPEO adPEO Autosomal dominant progressive external ophthalmoplegia Oftalmoplegia esterna progressiva autosomica dominante Oftalmoplegia externa progressiva, autossómica dominante Oftalmoplejía externa progresiva autosómica dominante Ophtalmoplégie externe progressive autosomique dominante Ophthalmoplegie, externe progressive, autosomal-dominante hrdo:pat_id_19797 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614651 neant 254898 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Hearing loss - encephaloneuropathy - obesity - valvulopathy Perda auditiva - encefaloneuropatia - obesidade - valvulopatia Perdita dell'udito - encefaloneuropatia - obesità - valvulopatia Pérdida de audición - encefaloneuropatía - obesidad - valvulopatía Deafness - encephaloneuropathy - obesity - valvulopathy Schwerhörigkeit - Enzephaloneuropathie - Adipositas - Valvulopathie Sordera - encefaloneuropatía - obesidad - valvulopatía Sordità - encefaloneuropatia - obesità - valvulopatia Surdez - encefaloneuropatia - obesidade - valvulopatia Surdité - encéphaloneuropathie - obésité - valvulopathie hrdo:pat_id_19798 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 124000 neant 254902 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Renal tubulopathy - encephalopathy - liver failure Renale Tubulopathie - Enzephalopathie - Leberversagen Tubulopathie rénale - encéphalopathie - insuffisance hépathique Tubulopatia renal - encefalopatia - insuficiência hepática Tubulopatia renale - encefalopatia - insufficienza epatica Tubulopatía renal - encefalopatía - insuficiencia hepática hrdo:pat_id_19799 220110 neant 254905 disease Atmungskettenkomplex IV, isolierter Mangel COX-Mangel, isolierter Deficit isolato del complesso IV della catena respiratoria mitocondriale Deficit isolato di COX Deficiência isolada da COX Deficiência isolada do complexo IV da cadeia respiratória mitocondrial Déficit aislado de COX Déficit aislado del complejo 4 de la cadena respiratoria mitocondrial Déficit aislado del complejo IV de la cadena respiratoria mitocondrial Déficit isolé en COX Déficit isolé en complexe IV de la chaïne respiratoire Isolated COX deficiency Isolated mitochondrial respiratory chain complex IV deficiency Cytochrom-C-Oxidase-Mangel, isolierter Deficit isolato della citocromo C ossidasi Deficiência isolada da citocromo C oxidase Déficit aislado de citocromo C oxidasa Déficit isolé en cytochrome C oxydase Isolated cytochrome C oxidase deficiency hrdo:pat_id_1980 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=cleidocranial+dysplasia+psoriasis 2060 malformation syndrome Fukuda-Miyanomae-Nakata syndrome Fukuda-Miyanomae-Nakata-Syndrom Sindrome di Fukuda Miyanomae Nakata Syndrome de Fukuda-Miyanomae-Nakata Síndrome de Fukuda-Miyanomae-Nakata Síndrome de Fukuda-Miyanomae-Nakata hrdo:pat_id_19800 604273 614052 614053 neant 254913 disease Atmungskettenkomplex V, isolierter Mangel Deficit isolato del complesso V della catena respiratoria mitocondriale Deficiência isolada do complexo V da cadeia respiratória mitocondrial Déficit aislado del complejo 5 de la cadena respiratoria mitocondrial Déficit aislado del complejo V de la cadena respiratoria mitocondrial Déficit isolé en complexe V de la chaîne respiratoire Isolated mitochondrial respiratory chain complex V deficiency ATP-Synthase-Mangel, isolierter Deficit isolato dell'ATP sintasi Deficiência isolada da ATP sintetase Déficit aislado de ATP sintasa Déficit isolé en ATP synthase Isolated ATP synthase deficiency hrdo:pat_id_19801 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 610498 neant 254920 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease COXPD2 COXPD2 COXPD2 COXPD2 COXPD2 COXPD2 Combined oxidative phosphorylation defect type 2 Deficit combinato della fosforilazione ossidativa, tipo 2 Deficiência combinada da fosforilação oxidativa, tipo 2 Déficit combinado de la fosforilación oxidativa tipo 2 Déficit combiné de la phosphorylation oxydative type 2 Kombinierter Defekt der oxidativen Phosphorylierung Typ 2 hrdo:pat_id_19802 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 610678 neant 254925 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease COXPD4 COXPD4 COXPD4 COXPD4 COXPD4 COXPD4 Combined oxidative phosphorylation defect type 4 Deficit combinato della fosforilazione ossidativa, tipo 4 Deficiência combinada da fosforilação oxidativa, tipo 4 Déficit combinado de la fosforilación oxidativa tipo 4 Déficit combiné de la phosphorylation oxydative type 4 Kombinierter Defekt der oxidativen Phosphorylierung Typ 4 hrdo:pat_id_19803 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 613559 neant 254930 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease COXPD7 COXPD7 COXPD7 COXPD7 COXPD7 COXPD7 Combined oxidative phosphorylation defect type 7 Deficit combinato della fosforilazione ossidativa, tipo 7 Deficiência combinada da fosforilação oxidativa, tipo 7 Déficit combinado de la fosforilación oxidativa tipo 7 Déficit combiné de la phosphorylation oxydative type 7 Kombinierter Defekt der oxidativen Phosphorylierung Typ 7 hrdo:pat_id_19804 Variabel Variabile Variable Variable Variable Variable Variável 255117 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Atrofia ottica autosomica dominante e sordità a esordio tardivo Atrofia óptica autosómica dominante y sordera de aparición tardía Atrofia óptica e surdez de início tardio, autossómica dominante Atrophie optique autosomique dominante et surdité tardive Autosomal dominant optic atrophy and late-onset deafness Optikusatrophie, autosomal-dominante, mit spät-einsetzender Schwerhörigkeit hrdo:pat_id_19805 Variabel Variabile Variable Variable Variable Variable Variável 205950 neant D64.0 255132 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Anemia sideroblastica autosomica recessiva refrattaria alla piridossina Anemia sideroblástica autosómica recesiva refractaria a la piridoxina Anemia sideroblástica refratária à piridoxina, autossómica recessiva Anämie, sideroblastische, Pyridoxin-refraktäre, autosomal-rezessive Anémie sidéroblastique autosomique récessive réfractaire à la pyridoxyne Autosomal recessive pyridoxine-refractory sideroblastic anemia hrdo:pat_id_19806 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 614111 neant E74.4 255138 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficiencia de subunidad E1 beta del complejo piruvato deshidrogenasa Deficit della subunità beta della componente E1 del complesso della piruvato deidrogenasi Déficit de subunidad E1 beta del complejo piruvato deshidrogenasa Déficit en sous-unité E1 bêta du complexe pyruvate déshydrogénase PDHBD PDHBD PDHBD PDHBD PDHBD Pyruvate dehydrogenase complex E1 component subunit beta deficiency Deficit di E1-beta della piruvato deidrogenasi Deficiência da subunidade beta do componente E1 do complexo piruvato desidrogenase Déficit de piruvato deshidrogenasa E1-beta Déficit en pyruvate déhydrogénase E1-bêta Pyruvat-Dehydrogenase E1-beta-Untereinheit-Mangel Pyruvate dehydrogenase E1-beta deficiency hrdo:pat_id_19807 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 245349 neant E74.4 255182 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown 2-Oxo-Glutarat-Komplex-Mangel 2-oxo-glutarate complex deficiency Branched chain keto acid dehydrogenase complex deficiency Deficiencia de diaforasa Deficiencia de dihidrolipoil deshidrogenasa Deficiencia de la proteína de unión E3 de la piruvato deshidrogenasa Deficiencia de lipoamida deshidrogenasa Deficiencia de proteína X del complejo piruvato deshidrogenasa Deficiencia del complejo 2-oxo-glutarato Deficiencia del complejo de deshidrogenasas de cetoácidos de cadena ramificada Deficiencia del componente E3 del complejo piruvato deshidrogenasa Deficiencia en la proteína L del sistema de clivaje de la glicina Deficit del complesso 2-oxo-glutarato Deficit del complesso della chetoacido deidrogenasi a catena ramificata Deficit della componente E3 del complesso della piruvato deidrogenasi Deficit della componente proteica X della piruvato deidrogenasi Deficit della proteina L del sistema di clivaggio della glicina Deficit di diaforasi Deficit di diidrolipoamide deidrogenasi Deficit di lipoamide deidrogenasi Deficiência da proteína de ligação a E3 Deficiência do componente X do complexo desidrogenase piruvato contendo lipoil Diaphorase deficiency Diaphorase-Mangel Dihydrolipoamid-Dehydrogenase-bindendes Protein-Mangel des Pyruvat-Dehydrogenase-Komplex Dihydrolipoyl dehydrogenasee deficiency Dihydrolipoyl-Dehydrogenase-Mangel Déficit de diaforasa Déficit de dihidrolipoil deshidrogenasa Déficit de lipoamida deshidrogenasa Déficit de proteína X del complejo piruvato deshidrogenasa Déficit del complejo 2-oxo-glutarato Déficit del complejo de deshidrogenasas de cetoácidos de cadena ramificada Déficit del componente E3 del complejo piruvato deshidrogenasa Déficit en complexe 2-oxo-glutarate Déficit en complexe déshydrogénase des alpha-cétoacide à chaines branchées Déficit en composé E3 du complexe pyruvate déshydrogénase Déficit en diaphorase Déficit en dihydrolipoyl déshydrogénase Déficit en la proteína L del sistema de clivaje de la glicina Déficit en lipoamide déshydrogénase Déficit en protéine L du système de clivage de la glycine Déficit en protéine X du complexe pyruvate déshydrogénase GCSL-Mangel Glycine cleavage system L protein deficiency Lipoamid-Dehydrogenase-Mangel Lipoamide dehydrogenase deficiency Mangel der E3-Untereinheit des Pyruvat-Dehydrogenase-Komplexes Proteína de ligação de dihidrolipoamido desidrogenase do complexo desidrogenase-piruvato Pyruvat-Dehydrogenase-Protein-X-Komponenten-Mangel Pyruvate dehydrogenase complex component E3 deficiency Pyruvate dehydrogenase protein X component deficiency Verzweigtkettige-alpha-Ketosäuren-Dehydrogenase-Komplex-Mangel Deficit della proteina legante E3 della piruvato deidrogenasi Deficiência do componente X da proteína da piruvato desidrogenase Déficit de la proteína de unión E3 de la piruvato deshidrogenasa Déficit en protéine de liaison E3 du complexe pyruvate déshydrogénase Pyruvat-Dehydrogenase-Protein-X-Komponenten-Mangel Pyruvate dehydrogenase E3-binding protein deficiency hrdo:pat_id_19808 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 256000 neant G31.8 255199 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch etiological subtype Doença de Leigh esporádica Encefalopatia necrotizante subaguda infantil esporádica Encefalopatia necrotizzante subacuta infantile sporadica Encefalopatía necrotizante subaguda infantil esporádica Encephalomyelopathie, infantile nekrotisierende sporadische subakute Encéphalomyopathie nécrosante subaiguë sporadique Enfermedad de Leigh esporádica Leigh-Krankheit, sporadische Maladie de Leigh sporadique Malattia di Leigh sporadica Sporadic Leigh disease Sporadic infantile subacute necrotizing encephalopathy Leigh-Syndrom, sporadisches Sindrome di Leigh sporadica Sporadic Leigh syndrome Syndrome de Leigh sporadique Síndrome de Leigh esporádico Síndrome de Leigh esporádico hrdo:pat_id_19809 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 161700 256000 neant G31.8 255210 Herencia mitocondrial Hérédité mitochondriale Mitochondrial inheritance Mitochondrial inheritance Mitochondriale Vererbung Modo de hereditariedade mitocondrial Trasmissione mitocondriale etiological subtype Doença de Leigh com hereditariedade materna Encefalopatia necrotizante subaguda infantil com hereditariedade materna Encefalopatia necrotizzante subacuta infantile a trasmissione materna Encefalopatía necrotizante subaguda infantil de transmisión materna Encephalomyelopathie, infantile nekrotisierende subakute, maternal vererbte Encéphalomyopathie nécrosante subaiguë de transmission maternelle Enfermedad de Leigh de transmisión materna Leigh-Krankheit, maternal vererbte MILS MILS MILS MILS MILS MILS Maladie de Leigh de transmission maternelle Malattia di Leigh a trasmissione materna Maternally-inherited Leigh disease Maternally-inherited infantile subacute necrotizing encephalopathy Leigh-Syndrom, maternal vererbtes Maternally-inherited Leigh syndrome Sindrome di Leigh a trasmissione materna Syndrome de Leigh de transmission maternelle Síndrome de Leigh com hereditariedade materna Síndrome de Leigh de transmisión materna hrdo:pat_id_19811 Variabel Variabile Variable Variable Variable Variable Variável neant 255225 Herencia mitocondrial Hérédité mitochondriale Mitochondrial inheritance Mitochondrial inheritance Mitochondriale Vererbung Modo de hereditariedade mitocondrial Trasmissione mitocondriale disease Cardiomiopatia ipertrofica mitocondriale a trasmissione materna Cardiomyopathie hypertrophique mitochondriale de transmission maternelle Kardiomyopathie, hypertrophe mitochondriale, maternal vererbte Maternally-inherited mitochondrial hypertrophic cardiomyopathy Miocardiopatia hipertrófica mitocondrial com hereditariedade materna Miocardiopatía hipertrófica mitocondrial de transmisión materna hrdo:pat_id_19812 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 256810 neant 255229 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Navajo neuropathy Navajo-Neuropathie Neuropathie type Navajo Neuropatia de Navajo Neuropatia, tipo Navajo Neuropatía tipo Navajo Navajo neurohepatopathy Navajo-Neurohepatopathie Neuro-hepatopatia de Navajo Neuroepatopatia, tipo Navajo Neurohepatopatía tipo Navajo Neurohépatopathie type Navajo hrdo:pat_id_19813 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 612075 neant 255235 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Déplétion de l'ADNmt forme encéphalomyopathique avec tubulopathie rénale Sindrome da deplezione del mtDNA, fomra encefalomiopatica con tubulopatia renale Síndrome de depleción del ADNmt, forma encefalomiopática con tubulopatía renal Síndrome de depleção do mtDNA, forma encefalomiopática com tubulopatia renal mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy mtDNA-Depletionssyndrom, enzephalomyopathische Form mit renaler Tubulopathie Déplétion de l'ADN mitochondrial forme encéphalomyopathique avec tubulopathie rénale Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy Mitochondriales DNA-Depletionssyndrom, enzephalomyopathische Form mit renaler Tubulopathie Sindrome da deplezione del DNA mitocondriale, forma encefalomiopatica con tubulopatia renale Síndrome de depleción del ADN mitocondrial, forma encefalomiopática con tubulopatía renal Síndrome de depleção do DNA mitocondrial, forma encefalomiopática com tubulopatia renal hrdo:pat_id_19814 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant G31.8 255241 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Doença de Leigh com leucodistrofia Encefalopatia necrotizante subaguda infantil com leucodistrofia Encefalopatia necrotizzante subacuta infantile con leucodistrofia Encefalopatía necrotizante subaguda infantil con leucodistrofia Encephalomyelopathie, infantile nekrotisierende subakute, mit Leukodystrophie Encéphalomyopathie nécrosante subaiguë avec leucodystrophie Enfermedad de Leigh con leucodistrofia Infantile subacute necrotizing encephalopathy with leukodystrophy Leigh disease with leukodystrophy Leigh-Krankheit mit Leukodystrophie Maladie de Leigh avec leucodystrophie Malattia di Leigh con leucodistrofia Leigh syndrome with leukodystrophy Leigh-Syndrom mit Leukodystrophie Sindrome di Leigh con leucodistrofia Syndrome de Leigh avec leucodystrophie Síndrome de Leigh com leucodistrofia Síndrome de Leigh con leucodistrofia hrdo:pat_id_19815 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 607426 614652 neant G31.8 255249 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Doença de Leigh com síndrome nefrótico Encefalopatia necrotizante subaguda infantil com síndrome nefrótico Encefalopatia necrotizzante subacuta infantile con sindrome nefrosica Encefalopatía necrotizante subaguda infantil con síndrome nefrótico Encephalomyelopathie, infantile nekrotisierende subakute, mit nephrotischem Syndrom Encéphalomyopathie nécrosante subaiguë avec syndrome néphrotique Enfermedad de Leigh con síndrome nefrótico Infantile subacute necrotizing encephalopathy with nephrotic syndrome Leigh disease with nephrotic syndrome Leigh-Krankheit mit nephrotischem Syndrom Maladie de Leigh avec syndrome néphrotique Malattia di Leigh con sindrome nefrosica Leigh syndrome with nephrotic syndrome Leigh-Syndrom mit nephrotischem Syndrom Sindrome di Leigh con sindrome nefrosica Syndrome de Leigh avec syndrome néphrotique Síndrome de Leigh com síndrome nefrótico Síndrome de Leigh con síndrome nefrótico hrdo:pat_id_1982 183300 neant Q87.8 2063 malformation syndrome Fusion splénogonadique - anomalie transversale des membres - micrognathie Fusione splenogonadica - difetti trasversali degli arti Fusión esplenogonadal anomalía de miembros transversa Fusão esplenogonadal - anomalias dos membros - micrognatia Splenogonadal fusion - limb defects - micrognathia Splenogonadale Fusion - Extremitätenfehlbildung - Mikrognathie hrdo:pat_id_1983 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 192800 C536344 2064 C1860464 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Faulk-Epstein-Jones syndrome Faulk-Epstein-Jones, síndrome de Sindrome di Faulk-Epstein-Jones Syndrome de Faulk-Epstein-Jones Síndrome de Faulk-Epstein-Jones Fusione posteriore delle vertebre lombosacrali - blefaroptosi Fusions des vertèbres lombosacrées - blépharoptosis Fusión posterior de las vértebras lumbosacras - blefaroptosis Fusão vertebral posterior lombo-sagrada - blefaroptose Posterior fusion of lumbosacral vertebrae - blepharoptosis Wirbelfusion, hintere lumbo-sakrale - Blepharoptose hrdo:pat_id_19831 neant D64.0 260305 disease Anemia sideroblastica congenita autosomica recessiva Anemia sideroblástica congénita autosómica recesiva Anämie, sideroachrestische, autosomal-rezessive, kongenitale Anémie sidéroblastique congénitale autosomique récessive Autosomal recessive congenital sideroblastic anemia Autosomal recessive congenital sideroblastic anemia hrdo:pat_id_1984 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 251300 C537548 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=microcephaly+nephrotic+syndrome+OR+Galloway+Mowat%5Btw%5D Q04.3 2065 C0795949 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Galloway syndrome Galloway-Mowat-Syndrom Microcefalia - ernia iatale - sindrome nefrosica Microcefalia - hérnia do hiato - síndrome nefrótico Microcephaly - hiatus hernia - nephrotic syndrome Microcéphalie - syndrome néphrotique - sclérose mésangiale Mikrozephalie - Hiatushernie - Nephrotisches Syndrom Nefrose - alterações da migração neuronal, síndrome Nephrose mit abnormer neuronaler Migration Nephrosis - neuronal dysmigration syndrome Néphrose - migration neuronale anormale Sindrome di Galloway-Mowat Sindrome nefrosi-anomalie della migrazione neuronale Syndrome de Galloway Síndrome con microcefalia, hernia de hiato, nefrosis Síndrome de Galloway-Mowat Síndrome de nefrosis - migración neuronal anormal Síndrome nefrose - alterações da migração neuronal Galloway-Mowat syndrome Galloway-Syndrom Sindrome di Galloway Syndrome de Galloway-Mowat Síndrome de Galloway Síndrome de Galloway hrdo:pat_id_19849 neant Q92.3 261102 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Distal dup(7)(q11.23) Distal dup(7)(q11.23) Distal trisomy 7q11.23 Dup(7)(q11.23) distal Dup(7)(q11.23) distale Dup(7)(q11.23) distale Trisomia 7q11.23 distale Trisomie 7q11.23, distal Trisomie distale 7q11.23 Trisomía 7q11.23 distal Distal 7q11.23 microduplication syndrome Distal 7q11.23 trisomy Mikroduplikationssyndrom 7q11.23, distal Sindrome da microduplicazione 7q11.23 distale Syndrome de microduplication distale 7q11.23 Síndrome de microduplicación 7q11.23 distal hrdo:pat_id_1985 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 230740 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Gapo+syndrome Q87.8 2067 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso do crescimento - alopecia - pseudo-anodontia - atrofia óptica Atraso do crescimento - alopecia - pseudo-anodontia - atrofia ótica Growth delay - alopecia - pseudoanodontia - optic atrophy Retard de croissance - alopécie - pseudoanodontie - atrophie optique Ritardo di crescita - alopecia - pseudoanodonzia - atrofia ottica Wachstumsverzögerung-Alopezie-Pseudoanodontie-Optikusatrophie-Syndrom GAPO syndrome GAPO syndrome GAPO-Syndrom Sindrome GAPO Síndrome GAPO Síndrome GAPO hrdo:pat_id_19850 158170 neant Q93.5 261112 malformation syndrome 9p deletion syndrome 9p- syndrome 9p-Syndrom Alfi syndrome Alfi-Syndrom Sindrome 9p- Sindrome di Alfi Syndrome 9p- Syndrome d'Alfi Syndrome de délétion 9p Síndrome 9p- Síndrome Alfi Monosomia 9p Monosomie 9p Monosomie 9p Monosomy 9p Monosomy 9p Monosomía 9p hrdo:pat_id_19851 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613457 neant Q93.5 261120 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Del(14)(q11.2) Del(14)(q11.2) Del(14)(q11.2) Del(14)(q11.2) Del(14)(q11.2) Monosomia 14q11.2 Monosomie 14q11.2 Monosomie 14q11.2 Monosomy 14q11.2 Monosomía 14q11.2 14q11.2 microdeletion syndrome Mikrodeletionssyndrom 14q11.2 Monosomy 14q11.2 Sindrome da microdelezione 14q11.2 Syndrome de microdélétion 14q11.2 Síndrome de microdeleción 14q11.2 hrdo:pat_id_19853 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q93.5 261144 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Del(14)(q12) Del(14)(q12) Del(14)(q12) Del(14)(q12) Del(14)(q12) Monosomia 14q12 Monosomie 14q12 Monosomie 14q12 Monosomy 14q12 Monosomía 14q12 14q12 microdeletion syndrome Mikrodeletionssyndrom 14q12 Monosomy 14q12 Sindrome da microdelezione 14q12 Syndrome de microdélétion 14q12 Síndrome de microdeleción 14q12 hrdo:pat_id_19855 neant Q93.5 261183 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Del(15)(q11.2) Del(15)(q11.2) Del(15)(q11.2) Del(15)(q11.2) Del(15)(q11.2) Monosomia 15q11.2 Monosomie 15q11.2 Monosomie 15q11.2 Monosomy 15q11.2 Monosomía 15q11.2 15q11.2 microdeletion syndrome Mikrodeletionssyndrom 15q11.2 Monosomy 15q11.2 Sindrome da microdelezione 15q11.2 Syndrome de microdélétion 15q11.2 Síndrome de microdeleción 15q11.2 hrdo:pat_id_19856 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q93.5 261190 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Del(15)(q14) Del(15)(q14) Del(15)(q14) Del(15)(q14) Del(15)(q14) Monosomia 15q14 Monosomie 15q14 Monosomie 15q14 Monosomy 15q14 Monosomía 15q14 15q14 microdeletion syndrome Mikrodeletionssyndrom 15q14 Monosomy 15q14 Sindrome da microdelezione 15q14 Syndrome de microdélétion 15q14 Síndrome de microdeleción 15q14 hrdo:pat_id_19857 611913 neant Q93.5 261197 malformation syndrome 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Del(16)(p11.2) Del(16)(p11.2) Del(16)(p11.2) Del(16)(p11.2) Del(16)(p11.2) Monosomia 16p11.2 Monosomie 16p11.2 Monosomie 16p11.2 Monosomy 16p11.2 Monosomía 16p11.2 16p11.2 microdeletion syndrome Mikrodeletionssyndrom 16p11.2 Monosomy 16p11.2 Sindrome da microdelezione 16p11.2 Syndrome de microdélétion 16p11.2 Síndrome de microdeleción 16p11.2 hrdo:pat_id_19858 614671 neant Q92.3 261204 malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Dup(16)(p11.2) Dup(16)(p11.2) Dup(16)(p11.2) Dup(16)(p11.2p12.2) Dup(16)(p11.2p12.2) Trisomia 16p11.2 Trisomie 16p11.2 Trisomie 16p11.2p12.2 Trisomy 16p11.2p12.2 Trisomía 16p11.2 16p11.2p12.2 microduplication syndrome Mikroduplikationssyndrom 16p11.2 Sindrome da microduplicazione 16p11.2 Syndrome de microduplication 16p11.2p12.2 Síndrome de microduplicación 16p11.2 Trisomy 16p11.2 hrdo:pat_id_19859 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613604 neant Q93.5 261211 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 16p11.2-p12.2 microdeletion syndrome Del(16)(p11.2p12.2) Del(16)(p11.2p12.2) Del(16)(p11.2p12.2) Del(16)(p11.2p12.2) Monosomia 16p11.2-p12.2 Monosomia 16p11.2p12.2 Monosomie 16p11.2-p12.2 Monosomie 16p11.2p12.2 Monosomy 16p11.2-p12.2 Monosomy 16p11.2p12.2 Monosomía 16p11.2-p12.2 Monosomía 16p11.2p12.2 Sindrome da microdelezione 16p11.2-p12.2 Syndrome de microdélétion 16p11.2-p12.2 Síndrome de microdeleción 16p11.2-p12.2 16p11.2p12.2 microdeletion syndrome Mikrodeletionssyndrom 16p11.2-p12.2 Monosomy 16p11.2p12.2 Sindrome da microdelezione 16p11.2p12.2 Syndrome de microdélétion 16p11.2p12.2 Síndrome de microdeleción 16p11.2p12.2 hrdo:pat_id_19860 613444 neant Q93.5 261222 malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Del(16)(p11.2) distal Del(16)(p11.2) distale Del(16)(p11.2) distale Distal del(16)(p11.2) Distal del(16)(p11.2) Distal monosomy 16p11.2 Monosomia 16p11.2 distale Monosomie 16p11.2 distale Monosomie 16p11.2, distal Monosomía 16p11.2 distal Distal 16p11.2 microdeletion syndrome Distal monosomy 16p11.2 Mikrodeletionssyndrom 16p11.2, distal Sindrome da microdelezione 16p11.2 distale Syndrome de microdélétion 16p11.2 distale Síndrome de microdeleción 16p11.2 distal hrdo:pat_id_19861 neant Q92.3 261229 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dup(14)(q11.2) Dup(14)(q11.2) Dup(14)(q11.2) Dup(14)(q11.2) Dup(14)(q11.2) Trisomia 14q11.2 Trisomie 14q11.2 Trisomie 14q11.2 Trisomy 14q11.2 Trisomía 14q11.2 14q11.2 microduplication syndrome Mikroduplikationssyndrom 14q11.2 Sindrome da microduplicazione 14q11.2 Syndrome de microduplication 14q11.2 Síndrome de microduplicación 14q11.2 Trisomy 14q11.2 hrdo:pat_id_19862 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q93.5 261236 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Del(16)(p13.11) Del(16)(p13.11) Del(16)(p13.11) Del(16)(p13.11) Del(16)(p13.11) Monosomia 16p13.11 Monosomie 16p13.11 Monosomie 16p13.11 Monosomy 16p13.11 Monosomía 16p13.11 16p13.11 microdeletion syndrome Mikrodeletionssyndrom 16p13.11 Monosomy 16p13.1 Sindrome da microdelezione 16p13.11 Syndrome de microdélétion 16p13.11 Síndrome de microdeleción 16p13.11 hrdo:pat_id_19863 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q92.3 261243 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dup(16)(p13.11) Dup(16)(p13.11) Dup(16)(p13.11) Dup(16)(p13.11) Dup(16)(p13.11) Trisomia 16p13.11 Trisomie 16p13.11 Trisomie 16p13.11 Trisomy 16p13.11 Trisomía 16p13.11 16p13.11 microduplication syndrome Mikroduplikationssyndrom 16p13.11 Sindrome da microduplicazione 16p13.11 Syndrome de microduplication 16p13.11 Síndrome de microduplicación 16p13.11 Trisomy 16p13.1 hrdo:pat_id_19864 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q93.5 261250 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Del(16)(q24.3) Del(16)(q24.3) Del(16)(q24.3) Del(16)(q24.3) Del(16)(q24.3) Monosomia 16q24.3 Monosomie 16q24.3 Monosomie 16q24.3 Monosomy 16q24.3 Monosomía 16q24.3 16q24.3 microdeletion syndrome Mikrodeletionssyndrom 16q24.3 Monosomy 16q24.3 Sindrome da microdelezione 16q24.3 Syndrome de microdélétion 16q24.3 Síndrome de microdeleción 16q24.3 hrdo:pat_id_19865 neant Q93.5 261257 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Del(17)(p13.3) Del(17)(p13.3) distal Del(17)(p13.3) distale Del(17)(p13.3) distale Distal del(17)(p13.3) Distal monosomy 17p13.3 Monosomia 17p13.3 distale Monosomie 17p13.3 distale Monosomie 17p13.3, distal Monosomía 17p13.3 distal Distal 17p13.3 microdeletion syndrome Distal monosomy 17p13.3 Mikrodeletionssyndrom 17p13.3, distal Sindrome da microdelezione 17p13.3 distale Syndrome de microdélétion 17p13.3 distale Síndrome de microdeleción 17p13.3 distal hrdo:pat_id_19866 614527 neant Q93.5 261265 malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Del(17)(q12) Del(17)(q12) Del(17)(q12) Del(17)(q12) Del(17)(q12) Monosomia 17q12 Monosomie 17q12 Monosomie 17q12 Monosomy 17q12 Monosomía 17q12 17q12 microdeletion syndrome Mikrodeletionssyndrom 17q12 Monosomy 17q12 Sindrome da microdelezione 17q12 Syndrome de microdélétion 17q12 Síndrome de microdeleción 17q12 hrdo:pat_id_19867 614526 neant Q92.3 261272 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dup(17)(q12) Dup(17)(q12) Dup(17)(q12) Dup(17)(q12) Dup(17)(q12) Trisomia 17q12 Trisomie 17q12 Trisomie 17q12 Trisomy 17q12 Trisomía 17q12 17q12 microduplication syndrome Mikroduplikationssyndrom 17q12 Sindrome da microduplicazione 17q12 Syndrome de microduplication 17q12 Síndrome de microduplicación 17q12 Trisomy 17q12 hrdo:pat_id_19868 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613355 neant Q93.5 261279 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 17q23.1-q23.2 microdeletion syndrome Del(17)(q23.1q23.2) Del(17)(q23.1q23.2) Del(17)(q23.1q23.2) Del(17)(q23.1q23.2) Del(17)(q23.1q23.2) Monosomia 17q23.1-q23.2 Monosomia 17q23.1q23.2 Monosomie 17q23.1-q23.2 Monosomie 17q23.1-q23.2 Monosomie 17q23.1q23.2 Monosomy 17q23.1-q23.2 Monosomy 17q23.1q23.2 Monosomía 17q23.1-q23.2 Monosomía 17q23.1q23.2 Sindrome da microdelezione 17q23.1-q23.2 Syndrome de microdélétion 17q23.1-q23.2 Síndrome de microdeleción 17q23.1-q23.2 17q23.1q23.2 microdeletion syndrome Mikrodeletionssyndrom 17q23.1q23.2 Monosomy 17q23.1q23.2 Sindrome da microdelezione 17q23.1q23.2 Syndrome de microdélétion 17q23.1q23.2 Síndrome de microdeleción 17q23.1q23.2 hrdo:pat_id_19869 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q92.2 261290 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Dup(17p) Dup(17p) Dup(17p) Dup(17p) Dup(17p) Trisomia 17p Trisomie 17p Trisomy 17p Trisomy 17p Trisomy 17p Trisomía 17p hrdo:pat_id_1987 137270 C535651 2069 C1850899 disease Gastro-kutanes Syndrom Gastrocutaneous syndrome Sindrome gastrocutanea Syndrome Gastro-cutané Síndrome gastro-cutâneo Síndrome gastrocutáneo hrdo:pat_id_19870 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q93.5 261295 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Del(20)(p12.3) Del(20)(p12.3) Del(20)(p12.3) Del(20)(p12.3) Del(20)(p12.3) Monosomia 20p12.3 Monosomie 20p12.3 Monosomie 20p12.3 Monosomy 20p12.3 Monosomía 20p12.3 20p12.3 microdeletion syndrome Mikrodeletionssyndrom 20p12.3 Monosomy 20p12.3 Sindrome da microdelezione 20p12.3 Syndrome de microdélétion 20p12.3 Síndrome de microdeleción 20p12.3 hrdo:pat_id_19871 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q93.5 261304 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Del(20)(q13) paterna Del(20)(q13) paterna Del(20)(q13.2q13.3) paternelle Monosomia 20q13 paterna Monosomie paternelle 20q13-.q13.3 Monosomie paternelle 20q13.q13.3 Monosomía 20q13 paterna Paternal 20q13.2-q13.3 microdeletion syndrome Paternal del(20)(q13.2q13.3) Paternal monosomy 20q13.2-q13.3 Paternal monosomy 20q13.2q13.3 Syndrome de microdélétion 20q13.2-q13.3 paternelle Mikrodeletionssyndrom 20q13.2q13.3, paternal Paternal 20q13.2q13.3 microdeletion syndrome Paternal monosomy 20q13 Sindrome da microdelezione 20q13 paterna Syndrome de microdélétion 20q13.2q13.3 paternelle Síndrome de microdeleción 20q13 paterna hrdo:pat_id_19872 neant Q93.5 261311 malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Del(20)(q13.33) Del(20)(q13.33) Del(20)(q13.33) Del(20)(q13.33) Del(20)(q13.33) Monosomia 20q13.33 Monosomie 20q13 Monosomie 20q13.33 Monosomie 20q13.33 Monosomy 20q13.33 Monosomía 20q13.33 20q13.33 microdeletion syndrome Mikrodeletionssyndrom 20q13.33 Monosomy 20q13 Sindrome da microdelezione 20q13.33 Syndrome de microdélétion 20q13.33 Síndrome de microdeleción 20q13.33 hrdo:pat_id_19873 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q92.2 261318 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dup(20p) Dup(20p) Dup(20p) Dup(20p) Dup(20p) Duplication 20p Duplication of 20p Duplication partielle du bras court du chromosome 20 Duplication partielle du chromosome 20p Partial duplication of chromosome 20p Partial duplication of the short arm of chromosome 20 Partial trisomy 20p Partial trisomy of chromosome 20p Partial trisomy of the short arm of chromosome 20 Trisomie 20p partielle Trisomie partielle du bras court du chromosome 20 Trisomie partielle du chromosome 20p Trisomia 20p Trisomie 20p Trisomy 20p Trisomy 20p Trisomy 20p Trisomía 20p hrdo:pat_id_19874 neant Q93.5 261323 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 21q22.11-q22.12 microdeletion syndrome Del(21)(q22.11q22.12) Del(21)(q22.11q22.12) Del(21)(q22.11q22.12) Del(21)(q22.11q22.12) Del(21)(q22.11q22.12) Mikrodeletionssyndrom 21q22.11-q22.12 Monosomia 21q22.11-q22.12 Monosomia 21q22.11q22.12 Monosomie 21q22.11-q22.12 Monosomie 21q22.11-q22.12 Monosomie 21q22.11q22.12 Monosomy 21q22.11-q22.12 Monosomy 21q22.11q22.12 Monosomía 21q22.11-q22.12 Monosomía 21q22.11q22.12 Sindrome da microdelezione 21q22.11-q22.12 Syndrome de microdélétion 21q22.11-q22.12 Síndrome de microdeleción 21q22.11-q22.12 21q22.11q22.12 microdeletion syndrome Mikrodeletionssyndrom 21q22 Monosomy 21q22 Sindrome da microdelezione 21q22.11q22.12 Syndrome de microdélétion 21q22.11q22.12 Síndrome de microdeleción 21q22.11q22.12 hrdo:pat_id_19875 611867 neant Q93.5 261330 malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Del(22)(q11.2) Del(22)(q11.2) distal Del(22)(q11.2) distale Del(22)(q11.2) distale Distal del(22)(q11.2) Distal monosomy 22q11.2 Monosomia 22q11.2 distale Monosomie 22q11.2 distale Monosomie 22q11.2, distal Monosomía 22q11.2 distal Distal 22q11.2 microdeletion syndrome Distal monosomy 22q11.2 Mikrodeletionssyndrom 22q11.2, distal Sindrome da microdelezione 22q11.2 distale Syndrome de microdélétion 22q11.2 distale Síndrome de microdeleción 22q11.2 distal hrdo:pat_id_19876 neant Q92.3 261337 malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Distal dup(22)(q11.2) Distal trisomy 22q11.2 Dup(22)(q11.2) Dup(22)(q11.2) distal Dup(22)(q11.2) distale Dup(22)(q11.2) distale Trisomia 22q11.2 distale Trisomie 22q11.2 distale Trisomie 22q11.2, distal Trisomía 22q11.2 distal Distal 22q11.2 microduplication syndrome Distal trisomy 22q11.2 Mikroduplikationssyndrom 22q11.2, distal Sindrome da microduplicazione 22q11.2 distale Syndrome de microduplication 22q11.2 distale Síndrome de microduplicación 22q11.2 distal hrdo:pat_id_19877 neant Q92.2 261344 malformation syndrome Duplicación 1q Duplication 1q Duplication 1q Duplicazione 1q Duplicazione 1q in mosaico Duplikation 1q Mosaic trisomy 1q Trisomia 1q Trisomie 1q Trisomie 1q Trisomy 1q Trisomía 1q hrdo:pat_id_19878 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 612513 neant Q93.5 261349 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 2p15-p16.1 microdeletion syndrome Del(2)(p15p16.1) Del(2)(p15p16.1) Del(2)(p15p16.1) Del(2)(p15p16.1) Del(2)(p15p16.1) Monosomia 2p15-p16.1 Monosomia 2p15p16.1 Monosomie 2p15-p16.1 Monosomie 2p15-p16.1 Monosomie 2p15p16.1 Monosomy 2p15-p16.1 Monosomy 2p15p16.1 Monosomía 2p15-p16.1 Monosomía 2p15p16.1 Sindrome da microdelezione 2p15-p16.1 Syndrome de microdélétion 2p15-p16.1 Síndrome de microdeleción 2p15-p16.1 2p15p16.1 microdeletion syndrome Mikrodeletionssyndrom 2p15p16.1 Monosomy 2p15p16.1 Sindrome da microdelezione 2p15p16.1 Syndrome de microdélétion 2p15p16.1 Síndrome de microdeleción 2p15p16.1 hrdo:pat_id_19879 300679 neant Q99.8 261476 malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficit di glicerolo chinasi - sindrome dei geni contingui Del(X)(p21) Del(X)(p21) Del(X)(p21) Del(X)(p21) Del(X)(p21) Glycerol kinase deficiency-contiguous gene syndrome Mikrodeletionssyndrom Xp21 Sindrome da microdelezione Xp21 Syndrome de microdélétion Xp21 Syndrome du gène contigu du déficit en glycérol kinase Síndrome de deleción de genes contiguos - deficiencia de glicerol quinasa Síndrome de deleción de genes contiguos - déficit de glicerol quinasa Síndrome de microdeleción Xp21 Xp21 microdeletion syndrome Monosomia Xp21 Monosomie Xp21 Monosomie Xp21 Monosomy Xp21 Monosomy Xp21 Monosomía Xp21 hrdo:pat_id_19880 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300869 neant Q99.8 261483 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Del(X)(q27.3q28) Dup(X)(q27.3q28) Dup(X)(q27.3q28) Dup(X)(q27.3q28) Dup(X)(q27.3q28) Dup(X)(q27.3q28) Sindrome da microduplicazione Xq27.3-q28 Syndrome de microduplication Xq27.3-q28 Síndrome de microduplicación Xq27.3q28 Trisomia Xq27.3-q28 Trisomia Xq27.3q28 Trisomie Xq27.3-q28 Trisomie Xq27.3-q28 Trisomie Xq27.3q28 Trisomy Xq27.3-q28 Trisomy Xq27.3q28 Trisomía Xq27.3-q28 Trisomía Xq27.3q28 Xq27.3-q28 microduplication syndrome Mikroduplikationssyndrom Xq27.3-q28 Monosomy Xq27.3q28 Sindrome da duplicazione Xq27.3q28 Syndrome de duplication Xq27.3q28 Síndrome de duplicación Xq27.3-q28 Xq27.3q28 duplication syndrome hrdo:pat_id_19881 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 610253 neant Q87.0 261494 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Kleefstra syndrome Kleefstra syndrome Kleefstra-Syndrom Sindrome di Kleefstra Syndrome de Kleefstra Síndrome de Kleefstra hrdo:pat_id_19882 neant H35.5 261501 malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Atypical Norrie disease due to Xp11.3 microdeletion Atypical Norrie disease due to del(X)(p11.3) Enfermedad de Norrie atípica debida a una del(X)(p11.3) Enfermedad de Norrie atípica debida a una microdeleción Xp11.3 Maladie de Norrie atypique due à une del(X)(p11.3) Maladie de Norrie atypique due à une microdélétion Xp11.3 Malattia atipica di Norrie da del(X)(p11.3) Malattia atipica di Norrie da microdelezione Xp11.3 Norrie-Syndrom, atypisches, durch Del(X)(p11.3) Norrie-Syndrom, atypisches, durch Mikrodeletion Xp11.3 Atypical Norrie disease due to monosomy Xp11.3 Atypical Norrie disease due to monosomy Xp11.3 Enfermedad de Norrie atípica debida a una monosomía Xp11.3 Maladie de Norrie atypique due à une monosomie Xp11.3 Malattia atipica di Norrie da monosomia Xp11.3 Norrie-Syndrom, atypisches, durch Monosomie Xp11.3 hrdo:pat_id_19883 300578 neant 261512 malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Retinite pigmentosa e deficit cognitivo da del(X)(p11.3) Retinite pigmentosa e deficit cognitivo da microdelezione Xp11.3 Retinitis pigmentosa and Intelligenzminderung durch Del(X)(p11.3) Retinitis pigmentosa and Intelligenzminderung durch Mikrodeletion Xp11.3 Retinitis pigmentosa and intellectual deficit due to Xp11.3 microdeletion Retinitis pigmentosa and intellectual deficit due to del(X)(p11.3) Retinosis pigmentaria y déficit intelectual debido a una del(X)(p11.3) Retinosis pigmentaria y déficit intelectual debido a una microdeleción Xp11.3 Rétinite pigmentaire et déficit intellectuel dus à une del(X)(p11.3) Rétinite pigmentaire et déficit intellectuel dus à une microdélétion Xp11.3 Retinite pigmentosa e deficit cognitivo da monosomia Xp11.3 Retinitis pigmentosa and Intelligenzminderung durch Monosomie Xp11.3 Retinitis pigmentosa and intellectual deficit due to monosomy Xp11.3 Retinitis pigmentosa and intellectual deficit due to monosomy Xp11.3 Retinosis pigmentaria y déficit intelectual debido a una monosomía Xp11.3 Rétinite pigmentaire et déficit intellectuel dus à une monosomie Xp11.3 hrdo:pat_id_19884 neant Q99.8 261519 malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown UPD(X)mat UPD(X)mat UPD(X)mat UPD(X)mat UPD(X)mat Disomia uniparentale materna del cromosoma X Disomie uniparentale maternelle du chromosome X Disomía uniparental materna del cromosoma X Maternal uniparental disomy of chromosome X Maternal uniparental disomy of chromosome X Uniparentale Disomie X, maternale hrdo:pat_id_19885 neant Q99.8 261524 malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown UPD(X)pat UPD(X)pat UPD(X)pat UPD(X)pat UPD(X)pat Disomia uniparentale paterna del cromosoma X Disomie uniparentale paternelle du chromosome X Disomía uniparental paterna del cromosoma X Paternal uniparental disomy of chromosome X Paternal uniparental disomy of chromosome X Uniparentale Disomie X, paternale hrdo:pat_id_19886 neant Q98.6 261529 malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown r(Y) r(Y) r(Y) r(Y) r(Y) Chromosome Y en anneau Cromosoma Y ad anello Cromosoma Y en anillo Ring chromosome Y Ring chromosome Y Ringchromosom Y hrdo:pat_id_19887 neant Q98.8 261534 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 49,XXXYY syndrome 49,XXXYY syndrome 49,XXXYY-Syndrom Sindrome 49,XXXYY Syndrome 49,XXXYY Síndrome 49,XXXYY hrdo:pat_id_19888 neant Q43.1 261537 etiological subtype Enfermedad de Hirschprung y déficit intelectual debido a del(2)(q22) Enfermedad de Hirschprung y déficit intelectual debido a una microdeleción 2q22 Enfermedad de Hirschprung y déficit intelectual debido a una monosomía 2q22 Hirschsprung disease and intellectual deficit due to 2q22 microdeletion Hirschsprung disease and intellectual deficit due to del(2)(q22) Hirschsprung disease and intellectual deficit due to monosomy 2q22 Hirschsprung-Krankheit und Intelligenzminderung durch Del(2)(q22) Hirschsprung-Krankheit und Intelligenzminderung durch Mikrodeletion 2q22 Hirschsprung-Krankheit und Intelligenzminderung durch Monosomie 2q22 Maladie de Hirschsprung et déficit intellectuel dues à une del(2)(q22) Maladie de Hirschsprung et déficit intellectuel dues à une microdélétion 2q22 Maladie de Hirschsprung et déficit intellectuel dues à une monosomie 2q22 Malattia di Hirschsprung e deficit cognitivo da del(2)(q22) Malattia di Hirschsprung e deficit cognitivo da microdelezione 2q22 Malattia di Hirschsprung e deficit cognitivo da monosomia 2q22 Mowat-Wilson syndrome due to 2q22 microdeletion Mowat-Wilson syndrome due to del(2)q(22) Mowat-Wilson-Syndrom durch Del(2)(q22) Mowat-Wilson-Syndrom durch Mikrodeletion 2q22 Sindrome di Mowat-Wilson da del(2)q(22) Sindrome di Mowat-Wilson da microdelezione 2q22 Syndrome de Mowat-Wilson dû à une del(2)q(22) Syndrome de Mowat-Wilson dû à une microdélétion 2q22 Síndrome de Mowat-Wilson debido a una del(2)q(22) Síndrome de Mowat-Wilson debido a una microdeleción 2q22 Mowat-Wilson syndrome due to monosomy 2q22 Mowat-Wilson syndrome due to monosomy 2q22 Mowat-Wilson-Syndrom durch Monosomie 2q22 Sindrome di Mowat-Wilson da monosomia 2q22 Syndrome de Mowat-Wilson dû à une monosomie 2q22 Síndrome de Mowat-Wilson debido a una monosomía 2q22 hrdo:pat_id_19889 neant Q43.1 261552 etiological subtype Enfermedad de Hirschprung y déficit intelectual debido a una mutación puntual Hirschsprung disease and intellectual deficit due to a point mutation Hirschsprung-Krankheit und Intelligenzminderung durch Punktmutationen Maladie de Hirschsprung et déficit intellectuel dues à une mutation ponctuelle Malattia di Hirschsprung e deficit cognitivo da mutazione puntiforme Mowat-Wilson syndrome due to a point mutation Mowat-Wilson syndrome due to a point mutation Mowat-Wilson-Syndrom durch Punktmutationen Sindrome di Mowat-Wilson da mutazione puntiforme Syndrome de Mowat-Wilson dû à une mutation ponctuelle Síndrome de Mowat-Wilson debido a una mutación puntual hrdo:pat_id_1989 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 231005 neant E75.2 2072 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cardiovascular Gaucher disease Doença Gaucher-like Gaucher disease type 3C Gaucher-Krankheit Typ 3C Gaucher-Krankheit, kardiovaskuläre Form Gaucher-like disease Gaucher-like, doença Gaucher-ähnliche Krankheit Maladie de Gaucher type 3C Maladie de Gaucher, forme cardiovasculaire Maladie de Gaucher-like Malattia Gaucher-simile Malattia di Gaucher, forma cardiovascolare Malattia di Gaucher, tipo 3C Doença pseudo-Gaucher Enfermedad de Gaucher - oftalmoplejía - calcificación cardiovascular Gaucher disease - ophthalmoplegia - cardiovascular calcification Gaucher-Krankheit - Ophthalmoplegie - kardiovaskuläre Verkalkungen Maladie de Gaucher - ophtalmoplégie - calcification cardiovasculaire Malattia di Gaucher - oftalmoplegia - calcificazioni cardiovascolari hrdo:pat_id_19890 neant Q10.3 261559 etiological subtype Blafarofimosis tipos 1 y 2, debido a una del(3)(q23) Blafarofimosis tipos 1 y 2, debido a una microdeleción 3q23 Blafarofimosis tipos 1 y 2, debido a una monosomía 3q23 Blefarofimosi - epicanto inverso - ptosi da del(3)(q23) Blefarofimosi - epicanto inverso - ptosi da monosomia 3q23 Blefarofimosi tipo 1 e 2 da del(3)(q23) Blefarofimosi tipo 1 e 2 da microdelezione 3q23 Blefarofimosi tipo 1 e 2 da monosomia 3q23 Blefarofimosis - epicanto inverso - ptosis, debido a una del(3)(q23) Blefarofimosis - epicanto inverso - ptosis, debido a una monosomía 3q23 Blepharophimosis - epicanthus inversus - Ptosis durch Del(3)(q23) Blepharophimosis - epicanthus inversus - Ptosis durch Monosomie 3q23 Blepharophimosis - epicanthus inversus - ptosis, due to del(3)(q23) Blepharophimosis - epicanthus inversus - ptosis, due to monosomy 3q23 Blepharophimosis Typ 1 und 2 bei Del(3)(q23) Blepharophimosis Typ 1 und 2 bei Monosomie 3q23 Blepharophimosis Typ 1 und 2 durch Mikrodeletion 3q23 Blepharophimosis types 1 and 2, due to 3q23 microdeletion Blepharophimosis types 1 and 2, due to del(3)(q23) Blepharophimosis types 1 and 2, due to monosomy 3q23 Blépharophimosis - ptosis - épicanthus inversus, dus à une del(3)(q23) Blépharophimosis - ptosis - épicanthus inversus, dus à une monosomie 3q23 Blépharophimosis types 1 et 2 dus à une del(3)(q23) Blépharophimosis types 1 et 2 dus à une microdélétion 3q23 Blépharophimosis types 1 et 2 dus à une monosomie 3q23 Blefarofimosi - epicanto inverso - ptosi da microdelezione 3q23 Blefarofimosis - epicanto inverso - ptosis, debido a una microdeleción 3q23 Blepharophimosis - epicanthus inversus - Ptosis durch Mikrodeletion 3q23 Blepharophimosis - epicanthus inversus - ptosis due to monosomy 3q23 Blepharophimosis - epicanthus inversus - ptosis, due to 3q23 microdeletion Blépharophimosis - ptosis - épicanthus inversus, dus à une microdélétion 3q23 hrdo:pat_id_19891 neant Q10.3 261572 etiological subtype Blafarofimosis tipos 1 y 2, debido a una mutación puntual Blefarofimosi tipo 1 e 2 da mutazione puntiforme Blepharophimosis Typ 1 und 2 durch Punktmutationen Blepharophimosis types 1 and 2 due to a point mutation Blépharophimosis types 1 et 2 dus à une mutation ponctuelle Blefarofimosi - epicanto inverso - ptosi da mutazione puntiforme Blefarofimosis - epicanto inverso - ptosis, debido a una mutación puntual Blepharophimosis - epicanthus inversus - Ptosis durch Punktmutationen Blepharophimosis - epicanthus inversus - ptosis due to a point mutation Blepharophimosis - epicanthus inversus - ptosis due to a point mutation Blépharophimosis - ptosis - épicanthus inversus dus à une mutation ponctuelle hrdo:pat_id_19892 neant Q10.3 261579 etiological subtype Blafarofimosis tipos 1 y 2, debido a una extensión de la cola de poli-A Blefarofimosi tipo 1 e 2 da espansione di polyA Blepharophimosis Typ 1 und 2 durch polyA-Expansion Blepharophimosis types 1 and 2 due to polyA expansion Blépharophimosis types 1 et 2 dus à une expansion polyA Blefarofimosi - epicanto inverso - ptosi da espansione di polyA Blefarofimosis - epicanto inverso - ptosis, debido a una extensión de la cola de poli-A Blepharophimosis - epicanthus inversus - Ptosis durch polyA-Expansion Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion Blepharophimosis - epicanthus inversus - ptosis due to polyA expansion Blépharophimosis - ptosis - épicanthus inversus dus à une expansion polyA hrdo:pat_id_19893 175100 neant D12.6 261584 etiological subtype Colorectal adenomatous polyposis due to monosomy 5q22.2 FAP da monosomia 5q22.2 FAP debida a una monosomía 5q22.2 FAP due to monosomy 5q22.2 FAP due à une monosomie 5q22.2 FAP durch Monosomie 5q22.2 Familial adenomatous polyposis due to del(5)(q22.2) Familial adenomatous polyposis due to monosomy 5q22.2 Familial polyposis coli due to monosomy 5q22.2 Familiäre Polyposis Coli durch Monosomie 5q22.2 PAF due à une monosomie 5q22.2 Poliposi adenomatosa colorettale da monosomia 5q22.2 Poliposi adenomatosa familiare da del(5)(q22.2) Poliposi adenomatosa familiare da monosomia 5q22.2 Poliposi rettocolica familiare da monosomia 5q22.2 Poliposis adenomatosa colorrectal debida a una monosomía 5q22.2 Poliposis adenomatosa familiar debida a una del(5)(q22.2) Poliposis adenomatosa familiar debida a una monosomía 5q22.2 Poliposis cólica familiar debida a una monosomía 5q22.2 Polypose adénomateuse colorectale due à une monosomie 5q22.2 Polypose adénomateuse familiale due à une del(5)(q22.2) Polypose adénomateuse familiale due à une monosomie 5q22.2 Polypose rectocolique familiale due à une monosomie 5q22.2 Polyposis, adenomatöse familiäre, durch Del(5)(q22.2) Polyposis, adenomatöse familiäre, durch Monosomie 5q22.2 Familial adenomatous polyposis due to 5q22.2 microdeletion Familial adenomatous polyposis due to monosomy 5q22.2 Poliposi adenomatosa familiare da microdelezione 5q22.2 Poliposis adenomatosa familiar debida a una microdeleción 5q22.2 Polypose adénomateuse familiale due à une microdeletion 5q22.2 Polyposis, adenomatöse familiäre, durch Mikrodeletion 5q22.2 hrdo:pat_id_19894 118450 neant Q44.7 261600 etiological subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Alagille syndrome due to del(20)(p12) Alagille syndrome due to monosomy 20p12 Alagille-Syndrom durch Del(20)(p12) Alagille-Syndrom durch Monosomie 20p12 Alagille-Watson syndrome due to monosomy 20p12 Alagille-Watson-Syndrom durch Monosomie 20p12 Arteriohepatic dysplasia due to monosomy 20p12 Displasia arteriohepática debido a una monosomía 20p12 Displasia arteriopatica da monosomia 20p12 Dysplasie artério-hépatique due à une monosomie 20p12 Dysplasie, arteriohepatische, durch Monosomie 20p12 Gallenganghypoplasie, intrahepatische, durch Monosomie 20p12 Paucità sindromica delle vie biliari da monosomia 20p12 Paucité des voies biliaires syndromique dû à une monosomie 20p12 Sindrome di Alagille da del(20)(p12) Sindrome di Alagille da monosomia 20p12 Sindrome di Alagille-Watson da monosomia 20p12 Syndrome d'Alagille dû à une monosomy 20p12 Syndrome d'Alagille-Watsons dû à une monosomie 20p12 Syndromic bile duct paucity due to monosomy 20p12 Síndrome de Alagille debido a del(20)(p12) Síndrome de Alagille debido a una monosomía 20p12 Síndrome de Alagille-Watson debido a una monosomía 20p12 Síndrome de escasez de conductos biliares debido a una monosomía 20p12 Alagille syndrome due to 20p12 microdeletion Alagille syndrome due to monosomy 20p12 Alagille-Syndrom durch Mikrodeletion 20p12 Sindrome di Alagille da microdelezione 20p12 Syndrome d'Alagille dû à une microdélétion 20p12 Síndrome de Alagille debido a una microdeleción 20p12 hrdo:pat_id_19895 118450 neant Q44.7 261619 etiological subtype Alagille-Watson syndrome due to a JAG1 point mutation Alagille-Watson-Syndrom durch JAG1-Gen-Punktmutationen Arteriohepatic dysplasia due to a JAG1 point mutation Displasia arteriohepática debido a una mutación puntual de JAG1 Displasia arteriopatica da mutazione puntiforme di JAG1 Dysplasie artério-hépatique due à une mutation ponctuelle de JAG1 Dysplasie, arteriohepatische, durch JAG1-Gen-Punktmutationen Gallenganghypoplasie, intrahepatische, durch JAG1-Gen-Punktmutationen Paucità sindromica delle vie biliari da mutazione puntiforme di JAG1 Paucité des voies biliaires syndromique dû à une mutation ponctuelle de JAG1 Sindrome di Alagille-Watson da mutazione puntiforme di JAG1 Syndrome d'Alagille-Watsons dû à une mutation ponctuelle de JAG1 Syndromic bile duct paucity due to a JAG1 point mutation Síndrome de Alagille-Watson debido a una mutación puntual de JAG1 Síndrome de escasez de conductos biliares debido a una mutación puntual de JAG1 Alagille syndrome due to a JAG1 point mutation Alagille syndrome due to a JAG1 point mutation Alagille-Syndrom durch JAG1-Gen-Punktmutationen Sindrome di Alagille da mutazione puntiforme di JAG1 Syndrome d'Alagille dû à une mutation ponctuelle de JAG1 Síndrome de Alagille debido a una mutación puntual de JAG1 hrdo:pat_id_19896 610205 neant Q44.7 261629 etiological subtype Alagille-Watson syndrome due to a NOTCH2 point mutation Alagille-Watson-Syndrom durch NOTCH2-Gen-Punktmutationen Arteriohepatic dysplasia due to a NOTCH2 point mutation Displasia arteriohepática debido a una mutación puntual de NOTCH2 Displasia arteriopatica da mutazione puntiforme di NOTCH2 Dysplasie artério-hépatique due à une mutation ponctuelle de NOTCH2 Dysplasie, arteriohepatische, durch NOTCH2-Gen-Punktmutationen Gallenganghypoplasie, intrahepatische, durch NOTCH2-Gen-Punktmutationen Paucità sindromica delle vie biliari da mutazione puntiforme di NOTCH2 Paucité des voies biliaires syndromique dû à une mutation ponctuelle de NOTCH2 Sindrome di Alagille-Watson da mutazione puntiforme di NOTCH2 Syndrome d'Alagille-Watsons dû à une mutation ponctuelle de NOTCH2 Syndromic bile duct paucity due to a NOTCH2 point mutation Síndrome de Alagille-Watson debido a una mutación puntual de NOTCH2 Síndrome de escasez de conductos biliares debido a una mutación puntual de NOTCH2 Alagille syndrome due to a NOTCH2 point mutation Alagille syndrome due to a NOTCH2 point mutation Alagille-Syndrom durch NOTCH2-Gen-Punktmutationen Sindrome di Alagille da mutazione puntiforme di NOTCH2 Syndrome d'Alagille dû à une mutation ponctuelle de NOTCH2 Síndrome de Alagille debido a una mutación puntual de NOTCH2 hrdo:pat_id_19897 607323 neant Q87.8 261638 etiological subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Duane-Retraktionssyndrom durch Monosomie 20q13 Duane-radial ray syndrome due to monosomy 20q13 Okihiro syndrome due to del(20)(q13) Okihiro syndrome due to monosomy 20q13 Okihiro-Syndrom bei Del(20)(q13) Sindrome di Duane-anomalia del raggio radiale da monosomia 20q13 Sindrome di Okihiro da del(20)(q13) Sindrome di Okihiro da monosomia 20q13 Syndrome d'Okihiro dû à une del(20)(q13) Syndrome d'Okihiro dû à une monosomie 20q13 Syndrome de Duane - anomalie du rayon radial dû à une monosomie 20q13 Síndrome de Duane - anomalía del rayo radial debido a una monosomía 20q13 Síndrome de Okihiro debido a una del(20)(q13) Síndrome de Okihiro debido a una monosomía 20q13 Okihiro syndrome due to 20q13 microdeletion Okihiro syndrome due to monosomy 20q13 Okihiro-Syndrom durch Monosomie 20q13 Sindrome di Okihiro da microdelezione 20q13 Syndrome d'Okihiro dû à une microdélétion 20q13 Síndrome de Okihiro debido a una microdeleción 20q13 hrdo:pat_id_19898 neant Q87.8 261647 etiological subtype Duane-Retraktionssyndrom durch Punktmutationen Duane-radial ray syndrome due to a point mutation Sindrome di Duane-anomale del raggio radiale da mutazione puntiforme Syndrome de Duane - anomalie du rayon radial dû à une mutation ponctuelle Síndrome de Duane del rayo radial debido a una mutación puntual Okihiro syndrome due to a point mutation Okihiro syndrome due to a point mutation Okihiro-Syndrom durch Punktmutationen Sindrome di Okihiro da mutazione puntiforme Syndrome d'Okihiro dû à une mutation ponctuelle Síndrome de Okihiro debido a una mutación puntual hrdo:pat_id_19899 neant Q87.0 261652 etiological subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Kleefstra syndrome due to a point mutation Kleefstra syndrome due to a point mutation Kleefstra-Syndrom durch Punktmutationen Sindrome di Kleefstra da mutazione puntiforme Syndrome de Kleefstra dû à une mutation ponctuelle Síndrome de Kleefstra debido a una mutación puntual hrdo:pat_id_1990 C537678 2074 C2931587 malformation syndrome Atassia spinocerebellare - amiotrofia sordità Ataxia espinocerebelosa - amiotrofia - sordera Ataxia espinocerebelosa - amiotrofia - surdez Ataxie spino-cérébelleuse - amyotrophie - surdité Ataxie, spinozerebelläre - Amyotrophie - Schwerhörigkeit Spinocerebellar ataxia - amyotrophy - deafness Gemignani syndrome Gemignani-Syndrom Sindrome di Gemignani Syndrome de Gemignani Síndrome de Gemignani Síndrome de Gemignani hrdo:pat_id_19900 261697 group of phenomes Anomalia del cromosoma 1 Anomalie du chromosome 1 Anomaly of chromosome 1 Anomaly of chromosome 1 Anomalía del cromosoma 1 Chromosom 1-Anomalie hrdo:pat_id_19901 261700 group of phenomes Anomalia del cromosoma 2 Anomalie du chromosome 2 Anomaly of chromosome 2 Anomaly of chromosome 2 Anomalía del cromosoma 2 Chromosom 2-Anomalie hrdo:pat_id_19902 261703 group of phenomes Anomalia del cromosoma 3 Anomalie du chromosome 3 Anomaly of chromosome 3 Anomaly of chromosome 3 Anomalía del cromosoma 3 Chromosom 3-Anomalie hrdo:pat_id_19903 261706 group of phenomes Anomalia del cromosoma 4 Anomalie du chromosome 4 Anomaly of chromosome 4 Anomaly of chromosome 4 Anomalía del cromosoma 4 Chromosom 4-Anomalie hrdo:pat_id_19904 261709 group of phenomes Anomalia del cromosoma 5 Anomalie du chromosome 5 Anomaly of chromosome 5 Anomaly of chromosome 5 Anomalía del cromosoma 5 Chromosom 5-Anomalie hrdo:pat_id_19905 261712 group of phenomes Anomalia del cromosoma 6 Anomalie du chromosome 6 Anomaly of chromosome 6 Anomaly of chromosome 6 Anomalía del cromosoma 6 Chromosom 6-Anomalie hrdo:pat_id_19906 261715 group of phenomes Anomalia del cromosoma 7 Anomalie du chromosome 7 Anomaly of chromosome 7 Anomaly of chromosome 7 Anomalía del cromosoma 7 Chromosom 7-Anomalie hrdo:pat_id_19907 261718 group of phenomes Anomalia del cromosoma 8 Anomalie du chromosome 8 Anomaly of chromosome 8 Anomaly of chromosome 8 Anomalía del cromosoma 8 Chromosom 8-Anomalie hrdo:pat_id_19908 261721 group of phenomes Anomalia del cromosoma 9 Anomalie du chromosome 9 Anomaly of chromosome 9 Anomaly of chromosome 9 Anomalía del cromosoma 9 Chromosom 9-Anomalie hrdo:pat_id_19909 261724 group of phenomes Anomalia del cromosoma 10 Anomalie du chromosome 10 Anomaly of chromosome 10 Anomaly of chromosome 10 Anomalía del cromosoma 10 Chromosom 10-Anomalie hrdo:pat_id_1991 231060 C537683 Q87.8 2075 C1856466 malformation syndrome Gardner-Silengo-Wachtel syndrome Gardner-Silengo-Wachtel, síndrome de Gardner-Silengo-Wachtel-Syndrom Sindrome di Gardner Silengo Wachtel Syndrome de Gardner-Silengo-Wachtel Síndrome de Gardner-Silengo-Wachtel Síndrome de Gardner-Silengo-Wachtel Genito-palato-cardiac syndrome Genito-palato-kardiales Syndrom Sindrome genito-palato-cardiaca Syndrome génito-palato-cardiaque Síndrome genito-palato-cardíaco Síndrome genitopalatocardíaco hrdo:pat_id_19911 261730 group of phenomes Anomalia del cromosoma 11 Anomalie du chromosome 11 Anomaly of chromosome 11 Anomaly of chromosome 11 Anomalía del cromosoma 11 Chromosom 11-Anomalie hrdo:pat_id_19912 261733 group of phenomes Anomalia del cromosoma 12 Anomalie du chromosome 12 Anomaly of chromosome 12 Anomaly of chromosome 12 Anomalía del cromosoma 12 Chromosom 12-Anomalie hrdo:pat_id_19913 261736 group of phenomes Anomalia del cromosoma 13 Anomalie du chromosome 13 Anomaly of chromosome 13 Anomaly of chromosome 13 Anomalía del cromosoma 13 Chromosom 13-Anomalie hrdo:pat_id_19914 261739 group of phenomes Anomalia del cromosoma 14 Anomalie du chromosome 14 Anomaly of chromosome 14 Anomaly of chromosome 14 Anomalía del cromosoma 14 Chromosom 14-Anomalie hrdo:pat_id_19915 261742 group of phenomes Anomalia del cromosoma 15 Anomalie du chromosome 15 Anomaly of chromosome 15 Anomaly of chromosome 15 Anomalía del cromosoma 15 Chromosom 15-Anomalie hrdo:pat_id_19916 261745 group of phenomes Anomalia del cromosoma 16 Anomalie du chromosome 16 Anomaly of chromosome 16 Anomaly of chromosome 16 Anomalía del cromosoma 16 Chromosom 16-Anomalie hrdo:pat_id_19917 261748 group of phenomes Anomalia del cromosoma 17 Anomalie du chromosome 17 Anomaly of chromosome 17 Anomaly of chromosome 17 Anomalía del cromosoma 17 Chromosom 17-Anomalie hrdo:pat_id_19918 261751 group of phenomes Anomalia del cromosoma 18 Anomalie du chromosome 18 Anomaly of chromosome 18 Anomaly of chromosome 18 Anomalía del cromosoma 18 Chromosom 18-Anomalie hrdo:pat_id_19919 261754 group of phenomes Anomalia del cromosoma 19 Anomalie du chromosome 19 Anomaly of chromosome 19 Anomaly of chromosome 19 Anomalía del cromosoma 19 Chromosom 19-Anomalie hrdo:pat_id_1992 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 231080 2077 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 German syndrome German-Syndrom Sindrome di German Syndrome de German Síndrome de German Síndrome de German hrdo:pat_id_19920 261757 group of phenomes Anomalia del cromosoma 20 Anomalie du chromosome 20 Anomaly of chromosome 20 Anomaly of chromosome 20 Anomalía del cromosoma 20 Chromosom 20-Anomalie hrdo:pat_id_19921 261760 group of phenomes Anomalia del cromosoma 21 Anomalie du chromosome 21 Anomaly of chromosome 21 Anomaly of chromosome 21 Anomalía del cromosoma 21 Chromosom 21-Anomalie hrdo:pat_id_19922 261763 group of phenomes Anomalia del cromosoma 22 Anomalie du chromosome 22 Anomaly of chromosome 22 Anomaly of chromosome 22 Anomalía del cromosoma 22 Chromosom 22-Anomalie hrdo:pat_id_19923 neant Q93.5 261766 group of phenomes Monosomia parziale del cromosoma 1 Monosomie partielle du chromosome 1 Monosomía parcial del cromosoma 1 Partial monosomy of chromosome 1 Partielle Monosomie des Chromosoms 1 Chromosom 1-Deletion, partielle Deleción parcial del cromosoma 1 Delezione parziale del cromosoma 1 Délétion partielle du chromosome 1 Partial deletion of chromosome 1 Partial monosomy of chromosome 1 hrdo:pat_id_19924 neant Q93.5 261771 group of phenomes Monosomia parziale del cromosoma 2 Monosomie partielle du chromosome 2 Monosomía parcial del cromosoma 2 Partial monosomy of chromosome 2 Partielle Monosomie des Chromosoms 2 Chromosom 2-Deletion, partielle Deleción parcial del cromosoma 2 Delezione parziale del cromosoma 2 Délétion partielle du chromosome 2 Partial deletion of chromosome 2 Partial monosomy of chromosome 2 hrdo:pat_id_19925 neant Q93.5 261776 group of phenomes Monosomia parziale del cromosoma 3 Monosomie partielle du chromosome 3 Monosomía parcial del cromosoma 3 Partial monosomy of chromosome 3 Partielle Monosomie des Chromosoms 3 Chromosom 3-Deletion, partielle Deleción parcial del cromosoma 3 Delezione parziale del cromosoma 3 Délétion partielle du chromosome 3 Partial deletion of chromosome 3 Partial monosomy of chromosome 3 hrdo:pat_id_19926 neant Q93.3 Q93.5 261781 group of phenomes Monosomia parziale del cromosoma 4 Monosomie partielle du chromosome 4 Monosomía parcial del cromosoma 4 Partial monosomy of chromosome 4 Partielle Monosomie des Chromosoms 4 Chromosom 4-Deletion, partielle Deleción parcial del cromosoma 4 Delezione parziale del cromosoma 4 Délétion partielle du chromosome 4 Partial deletion of chromosome 4 Partial monosomy of chromosome 4 hrdo:pat_id_19927 neant Q93.4 Q93.5 261786 group of phenomes Monosomia parziale del cromosoma 5 Monosomie partielle du chromosome 5 Monosomía parcial del cromosoma 5 Partial monosomy of chromosome 5 Partielle Monosomie des Chromosoms 5 Chromosom 5-Deletion, partielle Deleción parcial del cromosoma 5 Delezione parziale del cromosoma 5 Délétion partielle du chromosome 5 Partial deletion of chromosome 5 Partial monosomy of chromosome 5 hrdo:pat_id_19928 neant Q93.5 261791 group of phenomes Monosomia parziale del cromosoma 6 Monosomie partielle du chromosome 6 Monosomía parcial del cromosoma 6 Partial monosomy of chromosome 6 Partielle Monosomie des Chromosoms 6 Chromosom 6-Deletion, partielle Deleción parcial del cromosoma 6 Delezione parziale del cromosoma 6 Délétion partielle du chromosome 6 Partial deletion of chromosome 6 Partial monosomy of chromosome 6 hrdo:pat_id_19929 neant Q93.5 261796 group of phenomes Monosomia parziale del cromosoma 7 Monosomie partielle du chromosome 7 Monosomía parcial del cromosoma 7 Partial monosomy of chromosome 7 Partielle Monosomie des Chromosoms 7 Chromosom 7-Deletion, partielle Deleción parcial del cromosoma 7 Delezione parziale del cromosoma 7 Délétion partielle du chromosome 7 Partial deletion of chromosome 7 Partial monosomy of chromosome 7 hrdo:pat_id_1993 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 231070 C537799 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Geroderm*+osteodysplastic* Q82.8 2078 254116003 C0432255 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Enanismo Walt Disney Nanisme Walt Disney Nanismo Walt Disney Nanismo di Walt Disney Walt Disney dwarfism Geroderma osteodysplastica Geroderma osteodysplastica Gerodermia osteodisplastica Gerodermia osteodisplástica Gerodermia osteodisplástica Gérodermie ostéodysplasique hrdo:pat_id_19930 neant Q93.5 261801 group of phenomes Monosomia parziale del cromosoma 8 Monosomie partielle du chromosome 8 Monosomía parcial del cromosoma 8 Partial monosomy of chromosome 8 Partielle Monosomie des Chromosoms 8 Chromosom 8-Deletion, partielle Deleción parcial del cromosoma 8 Delezione parziale del cromosoma 8 Délétion partielle du chromosome 8 Partial deletion of chromosome 8 Partial monosomy of chromosome 8 hrdo:pat_id_19931 neant Q93.5 261806 group of phenomes Monosomia parziale del cromosoma 9 Monosomie partielle du chromosome 9 Monosomía parcial del cromosoma 9 Partial monosomy of chromosome 9 Partielle Monosomie des Chromosoms 9 Chromosom 9-Deletion, partielle Deleción parcial del cromosoma 9 Delezione parziale del cromosoma 9 Délétion partielle du chromosome 9 Partial deletion of chromosome 9 Partial monosomy of chromosome 9 hrdo:pat_id_19932 neant Q93.5 261811 group of phenomes Monosomia parziale del cromosoma 10 Monosomie partielle du chromosome 10 Monosomía parcial del cromosoma 10 Partial monosomy of chromosome 10 Partielle Monosomie des Chromosoms 10 Chromosom 10-Deletion, partielle Deleción parcial del cromosoma 10 Delezione parziale del cromosoma 10 Délétion partielle du chromosome 10 Partial deletion of chromosome 10 Partial monosomy of chromosome 10 hrdo:pat_id_19933 neant Q93.5 261816 group of phenomes Monosomia parziale del cromosoma 11 Monosomie partielle du chromosome 11 Monosomía parcial del cromosoma 11 Partial monosomy of chromosome 11 Partielle Monosomie des Chromosoms 11 Chromosom 11-Deletion, partielle Deleción parcial del cromosoma 11 Delezione parziale del cromosoma 11 Délétion partielle du chromosome 11 Partial deletion of chromosome 11 Partial monosomy of chromosome 11 hrdo:pat_id_19934 neant Q93.5 261821 group of phenomes Chromosom 12, partielle Deletion des langen Arms Deleción parcial del cromosoma 12q Delezione parziale del cromosoma 12q Délétion partielle du chromosome 12q Monosomia parziale del braccio lungo del cromosoma 12 Monosomia parziale del cromosoma 12q Monosomie partielle du bras long du chromosome 12 Monosomie partielle du chromosome 12q Monosomía parcial del brazo largo del cromosoma 12 Monosomía parcial del cromosoma 12q Partial deletion of chromosome 12q Partial monosomy of chromosome 12q Partial monosomy of the long arm of chromosome 12 Partielle Monosomie 12q Partielle Monosomie des langen Arms von Chromosom 12 Chromosom 12q-Deletion, partielle Deleción parcial del brazo largo del cromosoma 12 Delezione parziale del braccio lungo del cromosoma 12 Délétion partielle du bras long du chromosome 12 Partial deletion of the long arm of chromosome 12 Partial monosomy of the long arm of chromosome 12 hrdo:pat_id_19935 neant Q93.5 261826 group of phenomes Monosomia parziale del cromosoma 16 Monosomie partielle du chromosome 16 Monosomía parcial del cromosoma 16 Partial monosomy of chromosome 16 Partielle Monosomie des Chromosoms 16 Chromosom 16-Deletion, partielle Deleción parcial del cromosoma 16 Delezione parziale del cromosoma 16 Délétion partielle du chromosome 16 Partial deletion of chromosome 16 Partial monosomy of chromosome 16 hrdo:pat_id_19936 neant Q93.5 261831 group of phenomes Monosomia parziale del cromosoma 17 Monosomie partielle du chromosome 17 Monosomía parcial del cromosoma 17 Partial monosomy of chromosome 17 Partielle Monosomie des Chromosoms 17 Chromosom 17-Deletion, partielle Deleción parcial del cromosoma 17 Delezione parziale del cromosoma 17 Délétion partielle du chromosome 17 Partial deletion of chromosome 17 Partial monosomy of chromosome 17 hrdo:pat_id_19937 neant Q93.5 261836 group of phenomes Monosomia parziale del cromosoma 18 Monosomie partielle du chromosome 18 Monosomía parcial del cromosoma 18 Partial monosomy of chromosome 18 Partielle Monosomie des Chromosoms 18 Chromosom 18-Deletion, partielle Deleción parcial del cromosoma 18 Delezione parziale del cromosoma 18 Délétion partielle du chromosome 18 Partial deletion of chromosome 18 Partial monosomy of chromosome 18 hrdo:pat_id_19938 neant Q93.5 261841 group of phenomes Monosomia parziale del cromosoma 19 Monosomie partielle du chromosome 19 Monosomía parcial del cromosoma 19 Partial monosomy of chromosome 19 Partielle Monosomie des Chromosoms 19 Chromosom 19-Deletion, partielle Deleción parcial del cromosoma 19 Delezione parziale del cromosoma 19 Délétion partielle du chromosome 19 Partial deletion of chromosome 19 Partial monosomy of chromosome 19 hrdo:pat_id_19939 neant Q93.5 261846 group of phenomes Monosomia parziale del cromosoma 20 Monosomie partielle du chromosome 20 Monosomía parcial del cromosoma 20 Partial monosomy of chromosome 20 Partielle Monosomie des Chromosoms 20 Chromosom 20-Deletion, partielle Deleción parcial del cromosoma 20 Delezione parziale del cromosoma 20 Délétion partielle du chromosome 20 Partial deletion of chromosome 20 Partial monosomy of chromosome 20 hrdo:pat_id_19940 neant Q93.5 261857 group of phenomes Chromosom 1, partielle Deletion des kurzen Arms Deleción parcial del cromosoma 1p Delezione parziale del cromosoma 1p Délétion partielle du chromosome 1p Monosomia parziale del braccio corto del cromosoma 1 Monosomia parziale del cromosoma 1p Monosomie partielle du bras court du chromosome 1 Monosomie partielle du chromosome 1p Monosomía parcial del brazo corto del cromosoma 1 Monosomía parcial del cromosoma 1p Partial deletion of chromosome 1p Partial monosomy of chromosome 1p Partial monosomy of the short arm of chromosome 1 Partielle Monosomie 1p Partielle Monosomie des kurzen Arms von Chromosom 1 Chromosom 1p-Deletion, partielle Deleción parcial del brazo corto del cromosoma 1 Delezione parziale del braccio corto del cromosoma 1 Délétion partielle du bras court du chromosome 1 Partial deletion of the short arm of chromosome 1 Partial monosomy of the short arm of chromosome 1 hrdo:pat_id_19941 neant Q93.5 261866 group of phenomes Chromosom 2, partielle Deletion des kurzen Arms Deleción parcial del cromosoma 2p Delezione parziale del cromosoma 2p Délétion partielle du chromosome 2p Monosomia parziale del braccio corto del cromosoma 2 Monosomia parziale del cromosoma 2p Monosomie partielle du bras court du chromosome 2 Monosomie partielle du chromosome 2p Monosomía parcial del brazo corto del cromosoma 2 Monosomía parcial del cromosoma 2p Partial deletion of chromosome 2p Partial monosomy of chromosome 2p Partial monosomy of the short arm of chromosome 2 Partielle Monosomie 2p Partielle Monosomie des kurzen Arms von Chromosom 2 Chromosom 2p-Deletion, partielle Deleción parcial del brazo corto del cromosoma 2 Delezione parziale del braccio corto del cromosoma 2 Délétion partielle du bras court du chromosome 2 Partial deletion of the short arm of chromosome 2 Partial monosomy of the short arm of chromosome 2 hrdo:pat_id_19942 neant Q93.5 261875 group of phenomes Chromosom 3, partielle Deletion des kurzen Arms Deleción parcial del cromosoma 3p Delezione parziale del cromosoma 3p Délétion partielle du chromosome 3p Monosomia parziale del braccio corto del cromosoma 3 Monosomia parziale del cromosoma 3p Monosomie partielle du bras court du chromosome 3 Monosomie partielle du chromosome 3p Monosomía parcial del brazo corto del cromosoma 3 Monosomía parcial del cromosoma 3p Partial deletion of chromosome 3p Partial monosomy of chromosome 3p Partial monosomy of the short arm of chromosome 3 Partielle Monosomie 3p Partielle Monosomie des kurzen Arms von Chromosom 3 Chromosom 3p-Deletion, partielle Deleción parcial del brazo corto del cromosoma 3 Delezione parziale del braccio corto del cromosoma 3 Délétion partielle du bras court du chromosome 3 Partial deletion of the short arm of chromosome 3 Partial monosomy of the short arm of chromosome 3 hrdo:pat_id_19943 neant Q93.3 261884 group of phenomes Chromosom 4, partielle Deletion des kurzen Arms Deleción parcial del cromosoma 4p Delezione parziale del cromosoma 4p Délétion partielle du chromosome 4p Monosomia parziale del braccio corto del cromosoma 4 Monosomia parziale del cromosoma 4p Monosomie partielle du bras court du chromosome 4 Monosomie partielle du chromosome 4p Monosomía parcial del brazo corto del cromosoma 4 Monosomía parcial del cromosoma 4p Partial deletion of chromosome 4p Partial monosomy of chromosome 4p Partial monosomy of the short arm of chromosome 4 Partielle Monosomie 4p Partielle Monosomie des kurzen Arms von Chromosom 4 Chromosom 4p-Deletion, partielle Deleción parcial del brazo corto del cromosoma 4 Delezione parziale del braccio corto del cromosoma 4 Délétion partielle du bras court du chromosome 4 Partial deletion of the short arm of chromosome 4 Partial monosomy of the short arm of chromosome 4 hrdo:pat_id_19944 neant Q93.4 261893 group of phenomes Chromosom 5, partielle Deletion des kurzen Arms Deleción parcial del cromosoma 5p Delezione parziale del cromosoma 5p Délétion partielle du chromosome 5p Monosomia parziale del braccio corto del cromosoma 5 Monosomia parziale del cromosoma 5p Monosomie partielle du bras court du chromosome 5 Monosomie partielle du chromosome 5p Monosomía parcial del brazo corto del cromosoma 5 Monosomía parcial del cromosoma 5p Partial deletion of chromosome 5p Partial monosomy of chromosome 5p Partial monosomy of the short arm of chromosome 5 Partielle Monosomie 5p Partielle Monosomie des kurzen Arms von Chromosom 5 Chromosom 5p-Deletion, partielle Deleción parcial del brazo corto del cromosoma 5 Delezione parziale del braccio corto del cromosoma 5 Délétion partielle du bras court du chromosome 5 Partial deletion of the short arm of chromosome 5 Partial monosomy of the short arm of chromosome 5 hrdo:pat_id_19945 neant Q93.5 261902 group of phenomes Chromosom 6, partielle Deletion des kurzen Arms Deleción parcial del cromosoma 6p Delezione parziale del cromosoma 6p Délétion partielle du chromosome 6p Monosomia parziale del braccio corto del cromosoma 6 Monosomia parziale del cromosoma 6p Monosomie partielle du bras court du chromosome 6 Monosomie partielle du chromosome 6p Monosomía parcial del brazo corto del cromosoma 6 Monosomía parcial del cromosoma 6p Partial deletion of chromosome 6p Partial monosomy of chromosome 6p Partial monosomy of the short arm of chromosome 6 Partielle Monosomie 6p Partielle Monosomie des kurzen Arms von Chromosom 6 Chromosom 6p-Deletion, partielle Deleción parcial del brazo corto del cromosoma 6 Delezione parziale del braccio corto del cromosoma 6 Délétion partielle du bras court du chromosome 6 Partial deletion of the short arm of chromosome 6 Partial monosomy of the short arm of chromosome 6 hrdo:pat_id_19946 neant Q93.5 261911 group of phenomes Chromosom 7, partielle Deletion des kurzen Arms Deleción parcial del cromosoma 7p Delezione parziale del cromosoma 7p Délétion partielle du chromosome 7p Monosomia parziale del braccio corto del cromosoma 7 Monosomia parziale del cromosoma 7p Monosomie partielle du bras court du chromosome 7 Monosomie partielle du chromosome 7p Monosomía parcial del brazo corto del cromosoma 7 Monosomía parcial del cromosoma 7p Partial deletion of chromosome 7p Partial monosomy of chromosome 7p Partial monosomy of the short arm of chromosome 7 Partielle Monosomie 7p Partielle Monosomie des kurzen Arms von Chromosom 7 Chromosom 7p-Deletion, partielle Deleción parcial del brazo corto del cromosoma 7 Delezione parziale del braccio corto del cromosoma 7 Délétion partielle du bras court du chromosome 7 Partial deletion of the short arm of chromosome 7 Partial monosomy of the short arm of chromosome 7 hrdo:pat_id_19947 neant Q93.5 261920 group of phenomes Chromosom 8, partielle Deletion des kurzen Arms Deleción parcial del cromosoma 8p Delezione parziale del cromosoma 8p Délétion partielle du chromosome 8p Monosomia parziale del braccio corto del cromosoma 8 Monosomia parziale del cromosoma 8p Monosomie partielle du bras court du chromosome 8 Monosomie partielle du chromosome 8p Monosomía parcial del brazo corto del cromosoma 8 Monosomía parcial del cromosoma 8p Partial deletion of chromosome 8p Partial monosomy of chromosome 8p Partial monosomy of the short arm of chromosome 8 Partielle Monosomie 8p Partielle Monosomie des kurzen Arms von Chromosom 8 Chromosom 8p-Deletion, partielle Deleción parcial del brazo corto del cromosoma 8 Delezione parziale del braccio corto del cromosoma 8 Délétion partielle du bras court du chromosome 8 Partial deletion of the short arm of chromosome 8 Partial monosomy of the short arm of chromosome 8 hrdo:pat_id_19948 neant Q93.5 261929 group of phenomes Chromosom 9, partielle Deletion des kurzen Arms Deleción parcial del cromosoma 9p Delezione parziale del cromosoma 9p Délétion partielle du chromosome 9p Monosomia parziale del braccio corto del cromosoma 9 Monosomia parziale del cromosoma 9p Monosomie partielle du bras court du chromosome 9 Monosomie partielle du chromosome 9p Monosomía parcial del brazo corto del cromosoma 9 Monosomía parcial del cromosoma 9p Partial deletion of chromosome 9p Partial monosomy of chromosome 9p Partial monosomy of the short arm of chromosome 9 Partielle Monosomie 9p Partielle Monosomie des kurzen Arms von Chromosom 9 Chromosom 9p-Deletion, partielle Deleción parcial del brazo corto del cromosoma 9 Delezione parziale del braccio corto del cromosoma 9 Délétion partielle du bras court du chromosome 9 Partial deletion of the short arm of chromosome 9 Partial monosomy of the short arm of chromosome 9 hrdo:pat_id_19949 neant Q93.5 261938 group of phenomes Chromosom 10, partielle Deletion des kurzen Arms Deleción parcial del cromosoma 10p Delezione parziale del cromosoma 10p Délétion partielle du chromosome 10p Monosomia parziale del braccio corto del cromosoma 10 Monosomia parziale del cromosoma 10p Monosomie partielle du bras court du chromosome 10 Monosomie partielle du chromosome 10p Monosomía parcial del brazo corto del cromosoma 10 Monosomía parcial del cromosoma 10p Partial deletion of chromosome 10p Partial monosomy of chromosome 10p Partial monosomy of the short arm of chromosome 10 Partielle Monosomie 10p Partielle Monosomie des kurzen Arms von Chromosom 10 Chromosom 10p-Deletion, partielle Deleción parcial del brazo corto del cromosoma 10 Delezione parziale del braccio corto del cromosoma 10 Délétion partielle du bras court du chromosome 10 Partial deletion of the short arm of chromosome 10 Partial monosomy of the short arm of chromosome 10 hrdo:pat_id_19950 neant Q93.5 261947 group of phenomes Chromosom 11, partielle Deletion des kurzen Arms Deleción parcial del cromosoma 11p Delezione parziale del cromosoma 11p Délétion partielle du chromosome 11p Monosomia parziale del braccio corto del cromosoma 11 Monosomia parziale del cromosoma 11p Monosomie partielle du bras court du chromosome 11 Monosomie partielle du chromosome 11p Monosomía parcial del brazo corto del cromosoma 11 Monosomía parcial del cromosoma 11p Partial deletion of chromosome 11p Partial monosomy of chromosome 11p Partial monosomy of the short arm of chromosome 11 Partielle Monosomie 11p Partielle Monosomie des kurzen Arms von Chromosom 11 Chromosom 11p-Deletion, partielle Deleción parcial del brazo corto del cromosoma 11 Delezione parziale del braccio corto del cromosoma 11 Délétion partielle du bras court du chromosome 11 Partial deletion of the short arm of chromosome 11 Partial monosomy of the short arm of chromosome 11 hrdo:pat_id_19951 neant Q93.5 261956 group of phenomes Chromosom 16, partielle Deletion des kurzen Arms Deleción parcial del cromosoma 16p Delezione parziale del cromosoma 16p Délétion partielle du chromosome 16p Monosomia parziale del braccio corto del cromosoma 16 Monosomia parziale del cromosoma 16p Monosomie partielle du bras court du chromosome 16 Monosomie partielle du chromosome 16p Monosomía parcial del brazo corto del cromosoma 16 Monosomía parcial del cromosoma 16p Partial deletion of chromosome 16p Partial monosomy of chromosome 16p Partial monosomy of the short arm of chromosome 16 Partielle Monosomie 16p Partielle Monosomie des kurzen Arms von Chromosom 16 Chromosom 16p-Deletion, partielle Deleción parcial del brazo corto del cromosoma 16 Delezione parziale del braccio corto del cromosoma 16 Délétion partielle du bras court du chromosome 16 Partial deletion of the short arm of chromosome 16 Partial monosomy of the short arm of chromosome 16 hrdo:pat_id_19952 neant Q93.5 261965 group of phenomes Chromosom 17, partielle Deletion des kurzen Arms Deleción parcial del brazo corto del cromosoma 17 Deleción parcial del cromosoma 17p Delezione parziale del braccio corto del cromosoma 17 Delezione parziale del cromosoma 17p Délétion partielle du bras court du chromosome 17 Délétion partielle du chromosome 17p Monosomia parziale del cromosoma 17p Monosomie partielle du chromosome 17p Monosomía parcial del cromosoma 17p Partial deletion of chromosome 17p Partial deletion of the short arm of chromosome 17 Partial monosomy of chromosome 17p Partielle Monosomie 17p Partielle Monosomie des kurzen Arms von Chromosom 17 Chromosom 17p-Deletion, partielle Monosomia parziale del braccio corto del cromosoma 17 Monosomie partielle du bras court du chromosome 17 Monosomía parcial del brazo corto del cromosoma 17 Partial monosomy of the short arm of chromosome 17 Partial monosomy of the short arm of chromosome 17 hrdo:pat_id_19953 neant Q93.5 261974 group of phenomes Chromosom 18, partielle Deletion des kurzen Arms Deleción parcial del cromosoma 18p Delezione parziale del cromosoma 18p Délétion partielle du chromosome 18p Monosomia parziale del braccio corto del cromosoma 18 Monosomia parziale del cromosoma 18p Monosomie partielle du bras court du chromosome 18 Monosomie partielle du chromosome 18p Monosomía parcial del brazo corto del cromosoma 18 Monosomía parcial del cromosoma 18p Partial deletion of chromosome 18p Partial monosomy of chromosome 18p Partial monosomy of the short arm of chromosome 18 Partielle Monosomie 18p Partielle Monosomie des kurzen Arms von Chromosom 18 Chromosom 18p-Deletion, partielle Deleción parcial del brazo corto del cromosoma 18 Delezione parziale del braccio corto del cromosoma 18 Délétion partielle du bras court du chromosome 18 Partial deletion of the short arm of chromosome 18 Partial monosomy of the short arm of chromosome 18 hrdo:pat_id_19954 neant Q93.5 261983 group of phenomes Chromosom 19, partielle Deletion des kurzen Arms Deleción parcial del cromosoma 19p Delezione parziale del cromosoma 19p Délétion partielle du chromosome 19p Monosomia parziale del braccio corto del cromosoma 19 Monosomia parziale del cromosoma 19p Monosomie partielle du bras court du chromosome 19 Monosomie partielle du chromosome 19p Monosomía parcial del brazo corto del cromosoma 19 Monosomía parcial del cromosoma 19p Partial deletion of chromosome 19p Partial monosomy of chromosome 19p Partial monosomy of the short arm of chromosome 19 Partielle Monosomie 19p Partielle Monosomie des kurzen Arms von Chromosom 19 Chromosom 19p-Deletion, partielle Deleción parcial del brazo corto del cromosoma 19 Delezione parziale del braccio corto del cromosoma 19 Délétion partielle du bras court du chromosome 19 Partial deletion of the short arm of chromosome 19 Partial monosomy of the short arm of chromosome 19 hrdo:pat_id_19955 neant Q93.5 261992 group of phenomes Chromosom 20, partielle Deletion des kurzen Arms Deleción parcial del brazo corto del cromosoma 20 Deleción parcial del cromosoma 20p Delezione parziale del braccio corto del cromosoma 20 Delezione parziale del cromosoma 20p Délétion partielle du bras court du chromosome 20 Délétion partielle du chromosome 20p Monosomia parziale del cromosoma 20p Monosomie partielle du chromosome 20p Monosomía parcial del cromosoma 20p Partial deletion of chromosome 20p Partial deletion of the short arm of chromosome 20 Partial monosomy of chromosome 20p Partielle Monosomie 20p Partielle Monosomie des kurzen Arms von Chromosom 20 Chromosom 20p-Deletion, partielle Monosomia parziale del braccio corto del cromosoma 20 Monosomie partielle du bras court du chromosome 20 Monosomía parcial del brazo corto del cromosoma 20 Partial monosomy of the short arm of chromosome 20 Partial monosomy of the short arm of chromosome 20 hrdo:pat_id_19956 neant Q93.5 262001 group of phenomes Chromosom 1, partielle Deletion des langen Arms Deleción parcial del cromosoma 1q Delezione parziale del cromosoma 1q Délétion partielle du chromosome 1q Monosomia parziale del braccio lungo del cromosoma 1 Monosomia parziale del cromosoma 1q Monosomie partielle du chromosome 1q Monosomie partielle du long court du chromosome 1 Monosomía parcial del brazo largo del cromosoma 1 Monosomía parcial del cromosoma 1q Partial deletion of chromosome 1q Partial monosomy of chromosome 1q Partial monosomy of the long arm of chromosome 1 Partielle Monosomie 1q Partielle Monosomie des langen Arms von Chromosom 1 Chromosom 1q-Deletion, partielle Deleción parcial del brazo largo del cromosoma 1 Delezione parziale del braccio lungo del cromosoma 1 Délétion partielle du bras long du chromosome 1 Partial deletion of the long arm of chromosome 1 Partial monosomy of the long arm of chromosome 1 hrdo:pat_id_19957 neant Q93.5 262010 group of phenomes Chromosom 2, partielle Deletion des langen Arms Deleción parcial del cromosoma 2q Delezione parziale del cromosoma 2q Délétion partielle du chromosome 2q Monosomia parziale del braccio lungo del cromosoma 2 Monosomia parziale del cromosoma 2q Monosomie partielle du bras long du chromosome 2 Monosomie partielle du chromosome 2q Monosomía parcial del brazo largo del cromosoma 2 Monosomía parcial del cromosoma 2q Partial deletion of chromosome 2q Partial monosomy of chromosome 2q Partial monosomy of the long arm of chromosome 2 Partielle Monosomie 2q Partielle Monosomie des langen Arms von Chromosom 2 Chromosom 2q-Deletion, partielle Deleción parcial del brazo largo del cromosoma 2 Delezione parziale del braccio lungo del cromosoma 2 Délétion partielle du bras long du chromosome 2 Partial deletion of the long arm of chromosome 2 Partial monosomy of the long arm of chromosome 2 hrdo:pat_id_19958 neant Q93.5 262019 group of phenomes Chromosom 3, partielle Deletion des langen Arms Deleción parcial del cromosoma 3q Delezione parziale del cromosoma 3q Délétion partielle du chromosome 3q Monosomia parziale del braccio lungo del cromosoma 3 Monosomia parziale del cromosoma 3q Monosomie partielle du chromosome 3q Monosomie partielle du long court du chromosome 3 Monosomía parcial del brazo largo del cromosoma 3 Monosomía parcial del cromosoma 3q Partial deletion of chromosome 3q Partial monosomy of chromosome 3q Partial monosomy of the long arm of chromosome 3 Partielle Monosomie 3q Partielle Monosomie des langen Arms von Chromosom 3 Chromosom 3q-Deletion, partielle Deleción parcial del brazo largo del cromosoma 3 Delezione parziale del braccio lungo del cromosoma 3 Délétion partielle du bras long du chromosome 3 Partial deletion of the long arm of chromosome 3 Partial monosomy of the long arm of chromosome 3 hrdo:pat_id_19959 neant Q93.5 262029 group of phenomes Chromosom 4, partielle Deletion des langen Arms Deleción parcial del cromosoma 4q Delezione parziale del cromosoma 4q Délétion partielle du chromosome 4q Monosomia parziale del braccio lungo del cromosoma 4 Monosomia parziale del cromosoma 4q Monosomie partielle du chromosome 4q Monosomie partielle du long court du chromosome 4 Monosomía parcial del brazo largo del cromosoma 4 Monosomía parcial del cromosoma 4q Partial deletion of chromosome 4q Partial monosomy of chromosome 4q Partial monosomy of the long arm of chromosome 4 Partielle Monosomie 4q Partielle Monosomie des langen Arms von Chromosom 4 Chromosom 4q-Deletion, partielle Deleción parcial del brazo largo del cromosoma 4 Delezione parziale del braccio lungo del cromosoma 4 Délétion partielle du bras long du chromosome 4 Partial deletion of the long arm of chromosome 4 Partial monosomy of the long arm of chromosome 4 hrdo:pat_id_1996 neant Q04.5 2081 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cramer-Niederdellmann syndrome Cramer-Niederdellmann, síndrome Cramer-Niederdellmann-Syndrom Sindrome di Cramer-Niederdellmann Syndrome de Cramer-Niederdellmann Síndrome Cramer-Niederdellmann Síndrome de Cramer-Niederdellmann Cerebral gigantism - jaw cysts Gigantisme cérébral - kystes maxillaires Gigantismo cerebral - quistes maxilares Gigantismo cerebral - quistos mandibulares Gigantismo cerebrale - cisti mascellari Gigantismus, zerebraler - Kieferzysten hrdo:pat_id_19960 neant Q93.5 262038 group of phenomes Chromosom 5, partielle Deletion des langen Arms Deleción parcial del cromosoma 5q Delezione parziale del cromosoma 5q Délétion partielle du chromosome 5q Monosomia parziale del braccio lungo del cromosoma 5 Monosomia parziale del cromosoma 5q Monosomie partielle du chromosome 5q Monosomie partielle du long court du chromosome 5 Monosomía parcial del brazo largo del cromosoma 5 Monosomía parcial del cromosoma 5q Partial deletion of chromosome 5q Partial monosomy of chromosome 5q Partial monosomy of the long arm of chromosome 5 Partielle Monosomie 5q Partielle Monosomie des langen Arms von Chromosom 5 Chromosom 5q-Deletion, partielle Deleción parcial del brazo largo del cromosoma 5 Delezione parziale del braccio lungo del cromosoma 5 Délétion partielle du bras long du chromosome 5 Partial deletion of the long arm of chromosome 5 Partial monosomy of the long arm of chromosome 5 hrdo:pat_id_19961 neant Q93.5 262047 group of phenomes Chromosom 6, partielle Deletion des langen Arms Deleción parcial del cromosoma 6q Delezione parziale del cromosoma 6q Délétion partielle du chromosome 6q Monosomia parziale del braccio lungo del cromosoma 6 Monosomia parziale del cromosoma 6q Monosomie partielle du chromosome 6q Monosomie partielle du long court du chromosome 6 Monosomía parcial del brazo largo del cromosoma 6 Monosomía parcial del cromosoma 6q Partial deletion of chromosome 6q Partial monosomy of chromosome 6q Partial monosomy of the long arm of chromosome 6 Partielle Monosomie 6q Partielle Monosomie des langen Arms von Chromosom 6 Chromosom 6q-Deletion, partielle Deleción parcial del brazo largo del cromosoma 6 Delezione parziale del braccio lungo del cromosomae 6 Délétion partielle du bras long du chromosome 6 Partial deletion of the long arm of chromosome 6 Partial monosomy of the long arm of chromosome 6 hrdo:pat_id_19962 neant Q93.5 262056 group of phenomes Chromosom 7, partielle Deletion des langen Arms Deleción parcial del cromosoma 7q Delezione parziale del cromosoma 7q Délétion partielle du chromosome 7q Monosomia parziale del braccio lungo del cromosoma 7 Monosomia parziale del cromosoma 7q Monosomie partielle du chromosome 7q Monosomie partielle du long court du chromosome 7 Monosomía parcial del brazo largo del cromosoma 7 Monosomía parcial del cromosoma 7q Partial deletion of chromosome 7q Partial monosomy of chromosome 7q Partial monosomy of the long arm of chromosome 7 Partielle Monosomie 7q Partielle Monosomie des langen Arms von Chromosom 7 Chromosom 7q-Deletion, partielle Deleción parcial del brazo largo del cromosoma 7 Delezione parziale del braccio lungo del cromosoma 7 Délétion partielle du bras long du chromosome 7 Partial deletion of the long arm of chromosome 7 Partial monosomy of the long arm of chromosome 7 hrdo:pat_id_19963 neant Q93.5 262065 group of phenomes Chromosom 8, partielle Deletion des langen Arms Deleción parcial del cromosoma 8q Delezione parziale del cromosoma 8q Délétion partielle du chromosome 8q Monosomia parziale del braccio lungo del cromosoma 8 Monosomia parziale del cromosoma 8q Monosomie partielle du chromosome 8q Monosomie partielle du long court du chromosome 8 Monosomía parcial del brazo largo del cromosoma 8 Monosomía parcial del cromosoma 8q Partial deletion of chromosome 8q Partial monosomy of chromosome 8q Partial monosomy of the long arm of chromosome 8 Partielle Monosomie 8q Partielle Monosomie des langen Arms von Chromosom 8 Chromosom 8q-Deletion, partielle Deleción parcial del brazo largo del cromosoma 8 Delezione parziale del braccio lungo del cromosoma 8 Délétion partielle du bras long du chromosome 8 Partial deletion of the long arm of chromosome 8 Partial monosomy of the long arm of chromosome 8 hrdo:pat_id_19964 neant Q93.5 262074 group of phenomes Chromosom 9, partielle Deletion des langen Arms Deleción parcial del brazo largo del cromosoma 9 Deleción parcial del cromosoma 9q Delezione parziale del braccio lungo del cromosoma 9 Delezione parziale del cromosoma 9q Délétion partielle du bras long du chromosome 9 Délétion partielle du chromosome 9q Monosomia parziale del cromosoma 9q Monosomie partielle du chromosome 9q Monosomía parcial del cromosoma 9q Partial deletion of chromosome 9q Partial deletion of the long arm of chromosome 9 Partial monosomy of chromosome 9q Partielle Monosomie 9q Partielle Monosomie des langen Arms von Chromosom 9 Chromosom 9q-Deletion, partielle Monosomia parziale del braccio lungo del cromosoma 9 Monosomie partielle du long court du chromosome 9 Monosomía parcial del brazo largo del cromosoma 9 Partial monosomy of the long arm of chromosome 9 Partial monosomy of the long arm of chromosome 9 hrdo:pat_id_19965 neant Q93.5 262083 group of phenomes Chromosom 10, partielle Deletion des langen Arms Deleción parcial del brazo largo del cromosoma 10 Deleción parcial del cromosoma 10q Delezione parziale del braccio lungo del cromosoma 10 Delezione parziale del cromosoma 10q Délétion partielle du bras long du chromosome 10 Délétion partielle du chromosome 10q Monosomia parziale del cromosoma 10q Monosomie partielle du chromosome 10q Monosomía parcial del cromosoma 10q Partial deletion of chromosome 10q Partial deletion of the long arm of chromosome 10 Partial monosomy of chromosome 10q Partielle Monosomie 10q Partielle Monosomie des langen Arms von Chromosom 10 Chromosom 10q-Deletion, partielle Monosomia parziale del braccio lungo del cromosoma 10 Monosomie partielle du long du chromosome 10 Monosomía parcial del brazo largo del cromosoma 10 Partial monosomy of the long arm of chromosome 10 Partial monosomy of the long arm of chromosome 10 hrdo:pat_id_19966 neant Q93.5 262092 group of phenomes Chromosom 11, partielle Deletion des langen Arms Deleción parcial del cromosoma 11q Delezione parziale del cromosoma 11q Délétion partielle du chromosome 11q Monosomia parziale del braccio lungo del cromosoma 11 Monosomia parziale del cromosoma 11q Monosomie partielle du chromosome 11q Monosomie partielle du long court du chromosome 11 Monosomía parcial del brazo largo del cromosoma 11 Monosomía parcial del cromosoma 11q Partial deletion of chromosome 11q Partial monosomy of chromosome 11q Partial monosomy of the long arm of chromosome 11 Partielle Monosomie 11q Partielle Monosomie des langen Arms von Chromosom 11 Chromosom 11q-Deletion, partielle Deleción parcial del brazo largo del cromosoma 11 Delezione parziale del braccio lungo del cromosoma 11 Délétion partielle du bras long du chromosome 11 Partial deletion of the long arm of chromosome 11 Partial monosomy of the long arm of chromosome 11 hrdo:pat_id_19967 neant Q93.5 262101 group of phenomes Chromosom 1,3 partielle Deletion des langen Arms Deleción parcial del cromosoma 13q Delezione parziale del cromosoma 13q Délétion partielle du chromosome 13q Monosomia parziale del braccio lungo del cromosoma 13 Monosomia parziale del cromosoma 13q Monosomie partielle du chromosome 13q Monosomie partielle du long court du chromosome 13 Monosomía parcial del brazo largo del cromosoma 13 Monosomía parcial del cromosoma 13q Partial deletion of chromosome 13q Partial monosomy of chromosome 13q Partial monosomy of the long arm of chromosome 13 Partielle Monosomie 13q Partielle Monosomie des langen Arms von Chromosom 13 Chromosom 13q-Deletion, partielle Deleción parcial del brazo largo del cromosoma 13 Delezione parziale del braccio lungo del cromosoma 13 Délétion partielle du bras long du chromosome 13 Partial deletion of the long arm of chromosome 13 Partial monosomy of the long arm of chromosome 13 hrdo:pat_id_19968 neant Q93.5 262110 group of phenomes Chromosom 14, partielle Deletion des langen Arms Deleción parcial del cromosoma 14q Delezione parziale del cromosoma 14q Délétion partielle du chromosome 14q Monosomia parziale del braccio lungo del cromosoma 14 Monosomia parziale del cromosoma 14q Monosomie partielle du chromosome 14q Monosomie partielle du long court du chromosome 14 Monosomía parcial del brazo largo del cromosoma 14 Monosomía parcial del cromosoma 14q Partial deletion of chromosome 14q Partial monosomy of chromosome 14q Partial monosomy of the long arm of chromosome 14 Partielle Monosomie 14q Partielle Monosomie des langen Arms von Chromosom 14 Chromosom 14q-Deletion, partielle Deleción parcial del brazo largo del cromosoma 14 Delezione parziale del braccio lungo del cromosoma 14 Délétion partielle du bras long du chromosome 14 Partial deletion of the long arm of chromosome 14 Partial monosomy of the long arm of chromosome 14 hrdo:pat_id_19969 neant Q93.5 262119 group of phenomes Chromosom 15, partielle Deletion des langen Arms Deleción parcial del cromosoma 15q Delezione parziale del cromosoma 15q Délétion partielle du chromosome 15q Monosomia parziale del braccio lungo del cromosoma 15 Monosomia parziale del cromosoma 15q Monosomie partielle du chromosome 15q Monosomie partielle du long court du chromosome 15 Monosomía parcial del brazo largo del cromosoma 15 Monosomía parcial del cromosoma 15q Partial deletion of chromosome 15q Partial monosomy of chromosome 15q Partial monosomy of the long arm of chromosome 15 Partielle Monosomie 15q Partielle Monosomie des langen Arms von Chromosom 15 Chromosom 15q-Deletion, partielle Deleción parcial del brazo largo del cromosoma 15 Delezione parziale del braccio lungo del cromosoma 15 Délétion partielle du bras long du chromosome 15 Partial deletion of the long arm of chromosome 15 Partial monosomy of the long arm of chromosome 15 hrdo:pat_id_1997 247990 neant Q87.0 2083 malformation syndrome Mac Dermot-Winter syndrome Mac-Dermot-Winter-Syndrom MacDermot-Winter, síndrome de Sindrome di MacDermot Winter Syndrome de MacDermot-Winter Síndrome de MacDermot-Winter Glabela proeminente - microcefalia - hipogenitalismo Glabela prominente - microcefalia - hipogenitalismo Glabella prominente - microcefalia - bassa statura Glabelle proéminente - microcéphalie - petite taille Prominent glabella - microcephaly - hypogenitalism Prominente Glabella - Mikrozephalie - Hypogenitalismus hrdo:pat_id_19970 neant Q93.5 262128 group of phenomes Chromosom 16, partielle Deletion des langen Arms Deleción parcial del cromosoma 16q Delezione parziale del cromosoma 16q Délétion partielle du chromosome 16q Monosomia parziale del braccio lungo del cromosoma 16 Monosomia parziale del cromosoma 16q Monosomie partielle du chromosome 16q Monosomie partielle du long court du chromosome 16 Monosomía parcial del brazo largo del cromosoma 16 Monosomía parcial del cromosoma 16q Partial deletion of chromosome 16q Partial monosomy of chromosome 16q Partial monosomy of the long arm of chromosome 16 Partielle Monosomie 16q Partielle Monosomie des langen Arms von Chromosom 16 Chromosom 16q-Deletion, partielle Deleción parcial del brazo largo del cromosoma 16 Delezione parziale del braccio lungo del cromosoma 16 Délétion partielle du bras long du chromosome 16 Partial deletion of the long arm of chromosome 16 Partial monosomy of the long arm of chromosome 16 hrdo:pat_id_19971 neant Q93.5 262137 group of phenomes Chromosom 17, partielle Deletion des langen Arms Deleción parcial del cromosoma 17q Delezione parziale del cromosoma 17q Délétion partielle du chromosome 17q Monosomia parziale del braccio lungo del cromosoma 17 Monosomia parziale del cromosoma 17q Monosomie partielle du chromosome 17q Monosomie partielle du long court du chromosome 17 Monosomía parcial del brazo largo del cromosoma 17 Monosomía parcial del cromosoma 17q Partial deletion of chromosome 17q Partial monosomy of chromosome 17q Partial monosomy of the long arm of chromosome 17 Partielle Monosomie 17q Partielle Monosomie des langen Arms von Chromosom 17 Chromosom 17q-Deletion, partielle Deleción parcial del brazo largo del cromosoma 17 Delezione parziale del braccio lungo del cromosoma 17 Délétion partielle du bras long du chromosome 17 Partial deletion of the long arm of chromosome 17 Partial monosomy of the long arm of chromosome 17 hrdo:pat_id_19972 neant Q93.5 262146 group of phenomes Chromosom 18, partielle Deletion des langen Arms Deleción parcial del cromosoma 18q Delezione parziale del cromosoma 18q Délétion partielle du chromosome 18q Monosomia parziale del braccio lungo del cromosoma 18 Monosomia parziale del cromosoma 18q Monosomie partielle du chromosome 18q Monosomie partielle du long court du chromosome 18 Monosomía parcial del brazo largo del cromosoma 18 Monosomía parcial del cromosoma 18q Partial deletion of chromosome 18q Partial monosomy of chromosome 18q Partial monosomy of the long arm of chromosome 18 Partielle Monosomie 18q Partielle Monosomie des langen Arms von Chromosom 18 Chromosom 18q-Deletion, partielle Deleción parcial del brazo largo del cromosoma 18 Delezione parziale del braccio lungo del cromosoma 18 Délétion partielle du bras long du chromosome 18 Partial deletion of the long arm of chromosome 18 Partial monosomy of the long arm of chromosome 18 hrdo:pat_id_19973 neant Q93.5 262155 group of phenomes Chromosom 19, partielle Deletion des langen Arms Deleción parcial del cromosoma 19q Delezione parziale del cromosoma 19q Délétion partielle du chromosome 19q Monosomia parziale del braccio lungo del cromosoma 19 Monosomia parziale del cromosoma 19q Monosomie partielle du chromosome 19q Monosomie partielle du long court du chromosome 19 Monosomía parcial del brazo largo del cromosoma 19 Monosomía parcial del cromosoma 19q Partial deletion of chromosome 19q Partial monosomy of chromosome 19q Partial monosomy of the long arm of chromosome 19 Partielle Monosomie 19q Partielle Monosomie des langen Arms von Chromosom 19 Chromosom 19q-Deletion, partielle Deleción parcial del brazo largo del cromosoma 19 Delezione parziale del braccio lungo del cromosoma 19 Délétion partielle du bras long du chromosome 19 Partial deletion of the long arm of chromosome 19 Partial monosomy of the long arm of chromosome 19 hrdo:pat_id_19974 neant Q93.5 262164 group of phenomes Chromosom 20, partielle Deletion des langen Arms Deleción parcial del cromosoma 20q Delezione parziale del cromosoma 20q Délétion partielle du chromosome 20q Monosomia parziale del braccio lungo del cromosoma 20 Monosomia parziale del cromosoma 20q Monosomie partielle du chromosome 20q Monosomie partielle du long court du chromosome 20 Monosomía parcial del brazo largo del cromosoma 20 Monosomía parcial del cromosoma 20q Partial deletion of chromosome 20q Partial monosomy of chromosome 20q Partial monosomy of the long arm of chromosome 20 Partielle Monosomie 20q Partielle Monosomie des langen Arms von Chromosom 20 Chromosom 20q-Deletion, partielle Deleción parcial del brazo largo del cromosoma 20 Delezione parziale del braccio lungo del cromosoma 20 Délétion partielle du bras long du chromosome 20 Partial deletion of the long arm of chromosome 20 Partial monosomy of the long arm of chromosome 20 hrdo:pat_id_19975 neant Q93.5 262173 group of phenomes Chromosom 21, partielle Deletion des langen Arms Deleción parcial del cromosoma 21q Delezione parziale del cromosoma 21q Délétion partielle du chromosome 21q Monosomia parziale del braccio lungo del cromosoma 21 Monosomia parziale del cromosoma 21q Monosomie partielle du chromosome 21q Monosomie partielle du long court du chromosome 21 Monosomía parcial del brazo largo del cromosoma 21 Monosomía parcial del cromosoma 21q Partial deletion of chromosome 21q Partial monosomy of chromosome 21q Partial monosomy of the long arm of chromosome 21 Partielle Monosomie 21q Partielle Monosomie des langen Arms von Chromosom 21 Chromosom 21q-Deletion, partielle Deleción parcial del brazo largo del cromosoma 21 Delezione parziale del braccio lungo del cromosoma 21 Délétion partielle du bras long du chromosome 21 Partial deletion of the long arm of chromosome 21 Partial monosomy of the long arm of chromosome 21 hrdo:pat_id_19976 neant Q93.5 262182 group of phenomes Chromosom 22, partielle Deletion des langen Arms Deleción parcial del cromosoma 22q Delezione parziale del cromosoma 22q Délétion partielle du chromosome 22q Monosomia parziale del braccio lungo del cromosoma 22 Monosomia parziale del cromosoma 22q Monosomie partielle du chromosome 22q Monosomie partielle du long court du chromosome 22 Monosomía parcial del brazo largo del cromosoma 22 Monosomía parcial del cromosoma 22q Partial deletion of chromosome 22q Partial monosomy of chromosome 22q Partial monosomy of the long arm of chromosome 22 Partielle Monosomie 22q Partielle Monosomie des langen Arms von Chromosom 22 Chromosom 22q-Deletion, partielle Deleción parcial del brazo largo del cromosoma 22 Delezione parziale del braccio lungo del cromosoma 22 Délétion partielle du bras long du chromosome 22 Partial deletion of the long arm of chromosome 22 Partial monosomy of the long arm of chromosome 22 hrdo:pat_id_19977 262191 group of phenomes Partial trisomy of chromosome 1 Partielle Trisomie des Chromosoms 1 Trisomia parziale del cromosoma 1 Trisomie partielle du chromosome 1 Trisomía parcial del cromosoma 1 Chromosom 1-Duplikation, partielle Duplicación parcial del cromosoma 1 Duplication partielle du chromosome 1 Duplicazione parziale del cromosoma 1 Partial duplication of chromosome 1 Partial trisomy of chromosome 1 hrdo:pat_id_19978 262196 group of phenomes Partial trisomy of chromosome 2 Partielle Trisomie des Chromosoms 2 Trisomia parziale del cromosoma 2 Trisomie partielle du chromosome 2 Trisomía parcial del cromosoma 2 Chromosom 2-Duplikation, partielle Duplicación parcial del cromosoma 2 Duplication partielle du chromosome 2 Duplicazione parziale del cromosoma 2 Partial duplication of chromosome 2 Partial trisomy of chromosome 2 hrdo:pat_id_19979 262201 group of phenomes Partial trisomy of chromosome 3 Partielle Trisomie des Chromosoms 3 Trisomia parziale del cromosoma 3 Trisomie partielle du chromosome 3 Trisomía parcial del cromosoma 3 Chromosom 3-Duplikation, partielle Duplicación parcial del cromosoma 3 Duplication partielle du chromosome 3 Duplicazione parziale del cromosoma 3 Partial duplication of chromosome 3 Partial trisomy of chromosome 3 hrdo:pat_id_1998 Variabel Variabile Variable Variable Variable Variable Variável 608328 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Glaucoma+(lens+ectopia+(stiff+joints+OR+stiffness+OR+ankylosis)+OR+GEMSS%5Btw%5D) Q87.1 2084 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Gemss syndrome Gemss, síndrome de Sindrome GEMSS Syndrome Gemss Síndrome GEMSS Síndrome de Gemss Glaucoma - ectopia - esferofaquia - rigidez articular - talla baja Glaucoma - ectopia - microspherophakia - stiff joints - short stature Glaucoma - ectopia - sferofachia - rigidità articolare - bassa statura Glaucoma - ectopia do cristalino - microesferoquia - rigidez - baixa estatura Glaucome - ectopie - sphérophaquie - raideur articulaire - petite taille Glaukom - Ektopie - Mikrosphärenphakie - steife Gelenke - Kleinwuchs hrdo:pat_id_19980 262206 group of phenomes Partial trisomy of chromosome 4 Partielle Trisomie des Chromosoms 4 Trisomia parziale del cromosoma 4 Trisomie partielle du chromosome 4 Trisomía parcial del cromosoma 4 Chromosom 4-Duplikation, partielle Duplicación parcial del cromosoma 4 Duplication partielle du chromosome 4 Duplicazione parziale del cromosoma 4 Partial duplication of chromosome 4 Partial trisomy of chromosome 4 hrdo:pat_id_19981 262211 group of phenomes Duplicación / triplicación parcial del cromosoma 5 Duplication/triplication partielle du chromosome 5 Duplicazione/triplicazione parziale del cromosoma 5 Partial duplication/triplication of chromosome 5 Partielle Trisomie/Tetrasomie des Chromosoms 5 Chromosom 5-Duplikation/Triplikation, partielle Partial trisomy/tetrasomy of chromosome 5 Partial trisomy/tetrasomy of chromosome 5 Trisomia/tetrasomia parziale del cromosoma 5 Trisomie/tétrasomie partielle du chromosome 5 Trisomía / tetrasomía parcial del cromosoma 5 hrdo:pat_id_19982 262628 group of phenomes Partial trisomy of chromosome 6 Partielle Trisomie des Chromosoms 6 Trisomia parziale del cromosoma 6 Trisomie partielle du chromosome 6 Trisomía parcial del cromosoma 6 Chromosom 6-Duplikation, partielle Duplicación parcial del cromosoma 6 Duplication partielle du chromosome 6 Duplicazione parziale del cromosoma 6 Partial duplication of chromosome 6 Partial trisomy of chromosome 6 hrdo:pat_id_19983 262633 group of phenomes Partial trisomy of chromosome 7 Partielle Trisomie des Chromosoms 7 Trisomia parziale del cromosoma 7 Trisomie partielle du chromosome 7 Trisomía parcial del cromosoma 7 Chromosom 7-Duplikation, partielle Duplicación parcial del cromosoma 7 Duplication partielle du chromosome 7 Duplicazione parziale del cromosoma 7 Partial duplication of chromosome 7 Partial trisomy of chromosome 7 hrdo:pat_id_19984 262638 group of phenomes Partial trisomy of chromosome 8 Partielle Trisomie des Chromosoms 8 Trisomia parziale del cromosoma 8 Trisomie partielle du chromosome 8 Trisomía parcial del cromosoma 8 Chromosom 8-Duplikation, partielle Duplicación parcial del cromosoma 8 Duplication partielle du chromosome 8 Duplicazione parziale del cromosoma 8 Partial duplication of chromosome 8 Partial trisomy of chromosome 8 hrdo:pat_id_19985 262643 group of phenomes Duplicación / triplicación parcial del cromosoma 9 Duplication/triplication partielle du chromosome 9 Duplicazione/triplicazione parziale del cromosoma 9 Partial duplication/triplication of chromosome 9 Partielle Trisomie des Chromosoms 9 Chromosom 9-Duplikation, partielle Partial trisomy/tetrasomy of chromosome 9 Partial trisomy/tetrasomy of chromosome 9 Trisomia/tetrasomia parziale del cromosoma 9 Trisomie/tétrasomie partielle du chromosome 9 Trisomía / tetrasomía parcial del cromosoma 9 hrdo:pat_id_19986 262648 group of phenomes Partial trisomy of chromosome 10 Partielle Trisomie des Chromosoms 10 Trisomia parziale del cromosoma 10 Trisomie partielle du chromosome 10 Trisomía parcial del cromosoma 10 Chromosom 10-Duplikation, partielle Duplicación parcial del cromosoma 10 Duplication partielle du chromosome 10 Duplicazione parziale del cromosoma 10 Partial duplication of chromosome 10 Partial trisomy of chromosome 10 hrdo:pat_id_19987 262653 group of phenomes Partial trisomy of chromosome 11 Partielle Trisomie des Chromosoms 11 Trisomia parziale del cromosoma 11 Trisomie partielle du chromosome 11 Trisomía parcial del cromosoma 11 Chromosom 11-Duplikation, partielle Duplicación parcial del cromosoma 11 Duplication partielle du chromosome 11 Duplicazione parziale del cromosoma 11 Partial duplication of chromosome 11 Partial trisomy of chromosome 11 hrdo:pat_id_19988 262658 group of phenomes Duplicación / triplicación parcial del brazo corto del cromosoma 12 Duplicación / triplicación parcial del cromosoma 12p Duplication/triplication partielle du bras court du chromosome 12 Duplication/triplication partielle du chromosome 12p Duplicazione/triplicazione parziale del braccio corto del cromosoma 12 Duplicazione/triplicazione parziale del cromosoma 12p Partial duplication/triplication of chromosome 12p Partial duplication/triplication of the short arm of chromosome 12 Partial trisomy/tetrasomy of chromosome 12p Partielle Duplikation/Triplikation des kurzen Arms von Chromosom 12 Partielle Trisomie/Tetrasomie 12p Trisomia/tetrasomia parziale del cromosoma 12p Trisomie/tétrasomie partielle du chromosome 12p Trisomía / tetrasomía parcial del cromosoma 12p Chromosom 12, partielle Trisomie/Tetrasomie des kurzen Arms Partial trisomy/tetrasomy of the short arm of chromosome 12 Partial trisomy/tetrasomy of the short arm of chromosome 12 Trisomia/tetrasomia parziale del braccio corto del cromosoma 12 Trisomie/tétrasomie partielle du bras court du chromosome 12 Trisomía / tetrasomía parcial del brazo corto del cromosoma 12 hrdo:pat_id_1999 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis 137763 2085 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Glaucoma - apnea del sueño Glaucoma - apneia do sono Glaucoma - sleep apnea Glaucome - apnée du sommeil Glaukom - Schlafapnoe Sindrome glaucoma-apnea hrdo:pat_id_19990 262672 group of phenomes Partial trisomy of chromosome 16 Partielle Trisomie des Chromosoms 16 Trisomia parziale del cromosoma 16 Trisomie partielle du chromosome 16 Trisomía parcial del cromosoma 16 Chromosom 16-Duplikation, partielle Duplicación parcial del cromosoma 16 Duplication partielle du chromosome 16 Duplicazione parziale del cromosoma 16 Partial duplication of chromosome 16 Partial trisomy of chromosome 16 hrdo:pat_id_19991 262677 group of phenomes Partial trisomy of chromosome 17 Partielle Trisomie des Chromosoms 17 Trisomia parziale del cromosoma 17 Trisomie partielle du chromosome 17 Trisomía parcial del cromosoma 17 Chromosom 17-Duplikation, partielle Duplicación parcial del cromosoma 17 Duplication partielle du chromosome 17 Duplicazione parziale del cromosoma 17 Partial duplication of chromosome 17 Partial trisomy of chromosome 17 hrdo:pat_id_19992 262682 group of phenomes Duplicación / triplicación parcial del cromosoma 18 Duplication/triplication partielle du chromosome 18 Duplicazione/triplicazione parziale del cromosoma 18 Partial duplication/triplication of chromosome 18 Partielle Trisomie des Chromosoms 18 Chromosom 18-Duplikation, partielle Partial trisomy/tetrasomy of chromosome 18 Partial trisomy/tetrasomy of chromosome 18 Trisomia/tetrasomia parziale del cromosoma 18 Trisomie/tétrasomie partielle du chromosome 18 Trisomía / tetrasomía parcial del cromosoma 18 hrdo:pat_id_19993 262687 group of phenomes Partial trisomy of chromosome 19 Partielle Trisomie des Chromosoms 19 Trisomia parziale del cromosoma 19 Trisomie partielle du chromosome 19 Trisomía parcial del cromosoma 19 Chromosom 19-Duplikation, partielle Duplicación parcial del cromosoma 19 Duplication partielle du chromosome 19 Duplicazione parziale del cromosoma 19 Partial duplication of chromosome 19 Partial trisomy of chromosome 19 hrdo:pat_id_19994 262692 group of phenomes Duplicación parcial del cromosoma 20 Duplication partielle du chromosome 20 Duplicazione parziale del cromosoma 20 Partial duplication of chromosome 20 Partielle Trisomie des Chromosoms 20 Chromosom 20-Duplikation, partielle Partial trisomy of chromosome 20 Partial trisomy of chromosome 20 Trisomia parziale del cromosoma 20 Trisomie partielle du chromosome 20 Trisomía parcial del cromosoma 20 hrdo:pat_id_19995 262698 group of phenomes Chromosom 2p-Duplikation, partielle Duplicación parcial del cromosoma 2p Duplication partielle du chromosome 2p Duplicazione parziale del cromosoma 2p Partial duplication of chromosome 2p Partial trisomy of chromosome 2p Partial trisomy of the short arm of chromosome 2 Partielle Trisomie 2p Partielle Trisomie des kurzen Arms von Chromosom 2 Trisomia parziale del cromosoma 2p Trisomie partielle du bras court du chromosome 2 Trisomie partielle du chromosome 2p Trisomía parcial del cromosoma 2p Chromosom 2, partielle Duplikation des kurzen Arms Duplicación parcial del brazo corto del cromosoma 2 Duplication partielle du bras court du chromosome 2 Duplicazione parziale del braccio corto del cromosoma 2 Partial duplication of the short arm of chromosome 2 Partial trisomy of the short arm of chromosome 2 hrdo:pat_id_19996 262707 group of phenomes Chromosom 3p-Duplikation, partielle Duplicación parcial del cromosoma 3p Duplication partielle du chromosome 3p Duplicazione parziale del cromosoma 3p Partial duplication of chromosome 3p Partial trisomy of chromosome 3p Partial trisomy of the short arm of chromosome 3 Partielle Trisomie 3p Partielle Trisomie des kurzen Arms von Chromosom 3 Trisomia parziale del braccio corto del cromosoma 3 Trisomia parziale del cromosoma 3p Trisomie partielle du bras court du chromosome 3 Trisomie partielle du chromosome 3p Trisomía parcial del brazo corto del cromosoma 3 Trisomía parcial del cromosoma 3p Chromosom 3, partielle Duplikation des kurzen Arms Duplicación parcial del brazo corto del cromosoma 3 Duplication partielle du bras court du chromosome 3 Duplicazione parziale del braccio corto del cromosoma 3 Partial duplication of the short arm of chromosome 3 Partial trisomy of the short arm of chromosome 3 hrdo:pat_id_19997 262716 group of phenomes Chromosom 4p-Duplikation, partielle Duplicación parcial del cromosoma 4p Duplication partielle du chromosome 4p Duplicazione parziale del cromosoma 4p Partial duplication of chromosome 4p Partial trisomy of chromosome 4p Partial trisomy of the short arm of chromosome 4 Partielle Trisomie 4p Partielle Trisomie des kurzen Arms von Chromosom 4 Trisomia parziale del braccio corto del cromosoma 4 Trisomia parziale del cromosoma 4p Trisomie partielle du bras court du chromosome 4 Trisomie partielle du chromosome 4p Trisomía parcial del brazo corto del cromosoma 4 Trisomía parcial del cromosoma 4p Chromosom 4, partielle Duplikation des kurzen Arms Duplicación parcial del brazo corto del cromosoma 4 Duplication partielle du bras court du chromosome 4 Duplicazione parziale del braccio corto del cromosoma 4 Partial duplication of the short arm of chromosome 4 Partial trisomy of the short arm of chromosome 4 hrdo:pat_id_19998 262725 group of phenomes Chromosom 5q-Duplikation/Triplikation, partielle Duplicación / triplicación parcial del brazo corto del cromosoma 5 Duplicación / triplicación parcial del cromosoma 5p Duplication/triplication partielle du bras court du chromosome 5 Duplication/triplication partielle du chromosome 5p Duplicazione/triplicazione parziale del braccio corto del cromosoma 5 Duplicazione/triplicazione parziale del cromosoma 5p Partial duplication/triplication of chromosome 5p Partial duplication/triplication of the short arm of chromosome 5 Partial trisomy/tétrasomie of chromosome 5p Partielle Duplikation/Triplikation des kurzen Arms von Chromosom 5 Partielle Trisomie/Tetrasomie 5p Trisomia/tetrasomia parziale del cromosoma 5p Trisomie/tétrasomie partielle du chromosome 5p Trisomía / tetrasomía parcial del cromosoma 5p Chromosom 5, partielle Trisomie/Tetrasomie des kurzen Arms Partial trisomy/tetrasomy of the short arm of chromosome 5 Partial trisomy/tetrasomy of the short arm of chromosome 5 Trisomia/tetrasomia parziale del braccio corto del cromosoma 5 Trisomie/tétrasomie partielle du bras court du chromosome 5 Trisomía / tetrasomía parcial del brazo corto del cromosoma 5 hrdo:pat_id_19999 262740 group of phenomes Chromosom 6p-Duplikation, partielle Duplicación parcial del cromosoma 6p Duplication partielle du chromosome 6p Duplicazione parziale del cromosoma 6p Partial duplication of chromosome 6p Partial trisomy of chromosome 6p Partial trisomy of the short arm of chromosome 6 Partielle Trisomie 6p Partielle Trisomie des kurzen Arms von Chromosom 6 Trisomia parziale del braccio corto del cromosoma 6 Trisomia parziale del cromosoma 6p Trisomie partielle du bras court du chromosome 6 Trisomie partielle du chromosome 6p Trisomía parcial del brazo corto del cromosoma 6 Trisomía parcial del cromosoma 6p Chromosom 6, partielle Duplikation des kurzen Arms Duplicación parcial del brazo corto del cromosoma 6 Duplication partielle du bras court du chromosome 6 Duplicazione parziale del braccio corto del cromosoma 6 Partial duplication of the short arm of chromosome 6 Partial trisomy of the short arm of chromosome 6 hrdo:pat_id_2 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 203450 D038261 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=alexander+disease%5Bti%5D+OR+alexander%27s+disease%5Bti%5D+OR+%22alexander+disease%22%5BMeSH+Terms%5D E75.2 58 81854007 C0270726 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Alexander disease Alexander-Syndrom Doença de Alexander Enfermedad de Alexander Maladie d'Alexander Malattia di Alexander hrdo:pat_id_2000 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 137940 C536825 2087 C1841989 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Glomerulonefrite - cabelo rarefeito - telangiectasia Glomerulonephritis - Spärliches Haar - Telangiektasien Glomerulonephritis - sparse hair - telangiectasis Glomerulopatia - ipotrichia - telangectasia Glomerulopatía hipotriquia telangiectasias Glomérulopathie - hypotrichose - télangiectasies hrdo:pat_id_20000 262749 group of phenomes Chromosom 7p-Duplikation, partielle Duplicación parcial del cromosoma 7p Duplication partielle du chromosome 7p Duplicazione parziale del cromosoma 7p Partial duplication of chromosome 7p Partial trisomy of chromosome 7p Partial trisomy of the short arm of chromosome 7 Partielle Trisomie 7p Partielle Trisomie des kurzen Arms von Chromosom 7 Trisomia parziale del braccio corto del cromosoma 7 Trisomia parziale del cromosoma 7p Trisomie partielle du bras court du chromosome 7 Trisomie partielle du chromosome 7p Trisomía parcial del brazo corto del cromosoma 7 Trisomía parcial del cromosoma 7p Chromosom 7, partielle Duplikation des kurzen Arms Duplicación parcial del brazo corto del cromosoma 7 Duplication partielle du bras court du chromosome 7 Duplicazione parziale del braccio corto del cromosoma 7 Partial duplication of the short arm of chromosome 7 Partial trisomy of the short arm of chromosome 7 hrdo:pat_id_20001 262758 group of phenomes Chromosom 8p-Duplikation, partielle Duplicación parcial del cromosoma 8p Duplication partielle du chromosome 8p Duplicazione parziale del cromosoma 8p Partial duplication of chromosome 8p Partial trisomy of chromosome 8p Partial trisomy of the short arm of chromosome 8 Partielle Trisomie 8p Partielle Trisomie des kurzen Arms von Chromosom 8 Trisomia parziale del braccio corto del cromosoma 8 Trisomia parziale del cromosoma 8p Trisomie partielle du bras court du chromosome 8 Trisomie partielle du chromosome 8p Trisomía parcial del brazo corto del cromosoma 8 Trisomía parcial del cromosoma 8p Chromosom 8, partielle Duplikation des kurzen Arms Duplicación parcial del brazo corto del cromosoma 8 Duplication partielle du bras court du chromosome 8 Duplicazione parziale del braccio corto del cromosoma 8 Partial duplication of the short arm of chromosome 8 Partial trisomy of the short arm of chromosome 8 hrdo:pat_id_20002 262767 group of phenomes Chromosom 9p-Duplikation, partielle Duplicación parcial del brazo corto del cromosoma 9 Duplicación parcial del cromosoma 9p Duplication partielle du bras court du chromosome 9 Duplication partielle du chromosome 9p Duplicazione parziale del braccio corto del cromosoma 9 Duplicazione parziale del cromosoma 9p Partial duplication of chromosome 9p Partial duplication of the short arm of chromosome 9 Partial trisomy of chromosome 9p Partielle Trisomie 9p Partielle Trisomie des kurzen Arms von Chromosom 9 Trisomia parziale del cromosoma 9p Trisomie partielle du chromosome 9p Trisomía parcial del cromosoma 9p Chromosom 9, partielle Duplikation des kurzen Arms Partial trisomy of the short arm of chromosome 9 Partial trisomy of the short arm of chromosome 9 Trisomia parziale del braccio corto del cromosoma 9 Trisomie partielle du bras court du chromosome 9 Trisomía parcial del brazo corto del cromosoma 9 hrdo:pat_id_20003 262776 group of phenomes Chromosom 10p-Duplikation, partielle Duplicación parcial del cromosoma 10p Duplication partielle du chromosome 10p Duplicazione parziale del cromosoma 10p Partial duplication of chromosome 10p Partial trisomy of chromosome 10p Partial trisomy of the short arm of chromosome 10 Partielle Trisomie 10p Partielle Trisomie des kurzen Arms von Chromosom 10 Trisomia parziale del braccio corto del cromosoma 10 Trisomia parziale del cromosoma 10p Trisomie partielle du bras court du chromosome 10 Trisomie partielle du chromosome 10p Trisomía parcial del brazo corto del cromosoma 10 Trisomía parcial del cromosoma 10p Chromosom 10, partielle Duplikation des kurzen Arms Duplicación parcial del brazo corto del cromosoma 10 Duplication partielle du bras court du chromosome 10 Duplicazione parziale del braccio corto del cromosoma 10 Partial duplication of the short arm of chromosome 10 Partial trisomy of the short arm of chromosome 10 hrdo:pat_id_20004 262785 group of phenomes Chromosom 11p-Duplikation, partielle Duplicación parcial del cromosoma 11p Duplication partielle du chromosome 11p Duplicazione parziale del cromosoma 11p Partial duplication of chromosome 11p Partial trisomy of chromosome 11p Partial trisomy of the short arm of chromosome 11 Partielle Trisomie 11p Partielle Trisomie des kurzen Arms von Chromosom 11 Trisomia parziale del braccio corto del cromosoma 11 Trisomia parziale del cromosoma 11p Trisomie partielle du bras court du chromosome 11 Trisomie partielle du chromosome 11p Trisomía parcial del brazo corto del cromosoma 11 Trisomía parcial del cromosoma 11p Chromosom 11, partielle Duplikation des kurzen Arms Duplicación parcial del brazo corto del cromosoma 11 Duplication partielle du bras court du chromosome 11 Duplicazione parziale del braccio corto del cromosoma 11 Partial duplication of the short arm of chromosome 11 Partial trisomy of the short arm of chromosome 11 hrdo:pat_id_20005 262794 group of phenomes Chromosom 16p-Duplikation, partielle Duplicación parcial del cromosoma 16p Duplication partielle du chromosome 16p Duplicazione parziale del cromosoma 16p Partial duplication of chromosome 16p Partial trisomy of chromosome 16p Partial trisomy of the short arm of chromosome 16 Partielle Trisomie 16p Partielle Trisomie des kurzen Arms von Chromosom 16 Trisomia parziale del braccio corto del cromosoma 16 Trisomia parziale del cromosoma 16p Trisomie partielle du bras court du chromosome 16 Trisomie partielle du chromosome 16p Trisomía parcial del brazo corto del cromosoma 16 Trisomía parcial del cromosoma 16p Chromosom 16, partielle Duplikation des kurzen Arms Duplicación parcial del brazo corto del cromosoma 16 Duplication partielle du bras court du chromosome 16 Duplicazione parziale del braccio corto del cromosoma 16 Partial duplication of the short arm of chromosome 16 Partial trisomy of the short arm of chromosome 16 hrdo:pat_id_20006 262803 group of phenomes Chromosom 17p-Duplikation, partielle Duplicación parcial del cromosoma 17p Duplication partielle du chromosome 17p Duplicazione parziale del cromosoma 17p Partial duplication of chromosome 17p Partial trisomy of chromosome 17p Partial trisomy of the short arm of chromosome 17 Partielle Trisomie 17p Partielle Trisomie des kurzen Arms von Chromosom 17 Trisomia parziale del braccio corto del cromosoma 17 Trisomia parziale del cromosoma 17p Trisomie partielle du bras court du chromosome 17 Trisomie partielle du chromosome 17p Trisomía parcial del brazo corto del cromosoma 17 Trisomía parcial del cromosoma 17p Chromosom 17, partielle Duplikation des kurzen Arms Duplicación parcial del brazo corto del cromosoma 17 Duplication partielle du bras court du chromosome 17 Duplicazione parziale del braccio corto del cromosoma 17 Partial duplication of the short arm of chromosome 17 Partial trisomy of the short arm of chromosome 17 hrdo:pat_id_20007 262812 group of phenomes Chromosom 18q-Duplikation/Triplikation, partielle Duplicación / triplicación parcial del brazo corto del cromosoma 18 Duplicación / triplicación parcial del cromosoma 18p Duplication/triplication partielle du bras court du chromosome 18 Duplication/triplication partielle du chromosome 18p Duplicazione/triplicazione parziale del braccio corto del cromosoma 18 Duplicazione/triplicazione parziale del cromosoma 18p Partial duplication/triplication of chromosome 18p Partial duplication/triplication of the short arm of chromosome 18 Partial trisomy/tetrasomy of chromosome 18p Partielle Duplikation/Triplikation des kurzen Arms von Chromosom 18 Partielle Trisomie/Tetrasomie 18p Trisomia/tetrasomia parziale del cromosoma 18p Trisomie/tétrasomie partielle du chromosome 18p Trisomía / tetrasomía parcial del cromosoma 18p Chromosom 18, partielle Trisomie/Tetrasomie des kurzen Arms Partial trisomy/tetrasomy of the short arm of chromosome 18 Partial trisomy/tetrasomy of the short arm of chromosome 18 Trisomia/tetrasomia parziale del braccio corto del cromosoma 18 Trisomie/tétrasomie partielle du bras court du chromosome 18 Trisomía / tetrasomía parcial del brazo corto del cromosoma 18 hrdo:pat_id_20009 262833 group of phenomes Chromosom 1q-Duplikation, partielle Duplicación parcial del cromosoma 1q Duplication partielle du chromosome 1q Duplicazione parziale del cromosoma 1q Partial duplication of chromosome 1q Partial trisomy of chromosome 1q Partial trisomy of the long arm of chromosome 1 Partielle Duplikation 1q Partielle Trisomie des langen Arms von Chromosom 1 Trisomia parziale del braccio lungo del cromosoma 1 Trisomia parziale del cromosoma 1q Trisomie partielle du bras long du chromosome 1 Trisomie partielle du chromosome 1q Trisomía parcial del brazo largo del cromosoma 1 Trisomía parcial del cromosoma 1q Chromosom 1, partielle Duplikation des langen Arms Duplicación parcial del brazo largo del cromosoma 1 Duplication partielle du bras long du chromosome 1 Duplicazione parziale del braccio lungo del cromosoma 1 Partial duplication of the long arm of chromosome 1 Partial trisomy of the long arm of chromosome 1 hrdo:pat_id_20010 262842 group of phenomes Chromosom 2q-Duplikation, partielle Duplicación parcial del cromosoma 2q Duplication partielle du chromosome 2q Duplicazione parziale del cromosoma 2q Partial duplication of chromosome 2q Partial trisomy of chromosome 2q Partial trisomy of the long arm of chromosome 2 Partielle Duplikation 2q Partielle Trisomie des langen Arms von Chromosom 2 Trisomia parziale del braccio lungo del cromosoma 2 Trisomia parziale del cromosoma 2q Trisomie partielle du bras long du chromosome 2 Trisomie partielle du chromosome 2q Trisomía parcial del brazo largo del cromosoma 2 Trisomía parcial del cromosoma 2q Chromosom 2, partielle Duplikation des langen Arms Duplicación parcial del brazo largo del cromosoma 2 Duplication partielle du bras long du chromosome 2 Duplicazione parziale del braccio lungo del cromosoma 2 Partial duplication of the long arm of chromosome 2 Partial trisomy of the long arm of chromosome 2 hrdo:pat_id_20011 262851 group of phenomes Chromosom 3q-Duplikation, partielle Duplicación parcial del cromosoma 3q Duplication partielle du chromosome 3q Duplicazione parziale del cromosoma 3q Partial duplication of chromosome 3q Partial trisomy of chromosome 3q Partielle Duplikation 3q Partielle Trisomie des langen Arms von Chromosom 3 Trisomia parziale del cromosoma 3q Trisomie partielle du bras long du chromosome 3 Trisomie partielle du chromosome 3q Trisomía parcial del cromosoma 3q Chromosom 3, partielle Duplikation des langen Arms Duplicación parcial del brazo largo del cromosoma 3 Duplication partielle du bras long du chromosome 3 Duplicazione parziale del braccio lungo del cromosoma 3 Partial duplication of the long arm of chromosome 3 Partial trisomy of the long arm of chromosome 3 hrdo:pat_id_20012 neant Q92.3 262860 group of phenomes Chromosom 4q-Duplikation, partielle Duplicación parcial del cromosoma 4q Duplication partielle du chromosome 4q Duplicazione parziale del cromosoma 4q Partial duplication of chromosome 4q Partial trisomy of chromosome 4q Partial trisomy of the long arm of chromosome 4 Partielle Duplikation 4q Partielle Trisomie des langen Arms von Chromosom 4 Trisomia parziale del braccio lungo del cromosoma 4 Trisomia parziale del cromosoma 4q Trisomie partielle du bras long du chromosome 4 Trisomie partielle du chromosome 4q Trisomía parcial del brazo largo del cromosoma 4 Trisomía parcial del cromosoma 4q Chromosom 4, partielle Duplikation des langen Arms Duplicación parcial del brazo largo del cromosoma 4 Duplication partielle du bras long du chromosome 4 Duplicazione parziale del braccio lungo del cromosoma 4 Partial duplication of the long arm of chromosome 4 Partial trisomy of the long arm of chromosome 4 hrdo:pat_id_20013 262869 group of phenomes Chromosom 5q-Duplikation, partielle Duplicación parcial del brazo largo del cromosoma 5 Duplicación parcial del cromosoma 5q Duplication partielle du bras long du chromosome 5 Duplication partielle du chromosome 5q Duplicazione parziale del braccio lungo del cromosoma 5 Duplicazione parziale del cromosoma 5q Partial duplication of chromosome 5q Partial duplication of the long arm of chromosome 5 Partial trisomy of chromosome 5q Partielle Duplikation 5q Partielle Trisomie des langen Arms von Chromosom 5 Trisomia parziale del cromosoma 5q Trisomie partielle du chromosome 5q Trisomía parcial del cromosoma 5q Chromosom 5, partielle Duplikation des langen Arms Partial trisomy of the long arm of chromosome 5 Partial trisomy of the long arm of chromosome 5 Trisomia parziale del braccio lungo del cromosoma 5 Trisomie partielle du bras long du chromosome 5 Trisomía parcial del brazo largo del cromosoma 5 hrdo:pat_id_20014 262878 group of phenomes Chromosom 6q-Duplikation, partielle Duplicación parcial del cromosoma 6q Duplication partielle du chromosome 6q Duplicazione parziale del cromosoma 6q Partial duplication of chromosome 6q Partial trisomy of chromosome 6q Partial trisomy of the long arm of chromosome 6 Partielle Duplikation 6q Partielle Trisomie des langen Arms von Chromosom 6 Trisomia parziale del braccio lungo del cromosoma 6 Trisomia parziale del cromosoma 6q Trisomie partielle du bras long du chromosome 6 Trisomie partielle du chromosome 6q Trisomía parcial del brazo largo del cromosoma 6 Trisomía parcial del cromosoma 6q Chromosom 6, partielle Duplikation des langen Arms Duplicación parcial del brazo largo del cromosoma 6 Duplication partielle du bras long du chromosome 6 Duplicazione parziale del braccio lungo del cromosoma 6 Partial duplication of the long arm of chromosome 6 Partial trisomy of the long arm of chromosome 6 hrdo:pat_id_20015 262887 group of phenomes Chromosom 7q-Duplikation, partielle Duplicación parcial del cromosoma 7q Duplication partielle du chromosome 7q Duplicazione parziale del cromosoma 7q Partial duplication of chromosome 7q Partial trisomy of chromosome 7q Partial trisomy of the long arm of chromosome 7 Partielle Duplikation 7q Partielle Trisomie des langen Arms von Chromosom 7 Trisomia parziale del braccio lungo del cromosoma 7 Trisomia parziale del cromosoma 7q Trisomie partielle du bras long du chromosome 7 Trisomie partielle du chromosome 7q Trisomía parcial del brazo largo del cromosoma 7 Trisomía parcial del cromosoma 7q Chromosom 7, partielle Duplikation des langen Arms Duplicación parcial del brazo largo del cromosoma 7 Duplication partielle du bras long du chromosome 7 Duplicazione parziale del braccio lungo del cromosoma 7 Partial duplication of the long arm of chromosome 7 Partial trisomy of the long arm of chromosome 7 hrdo:pat_id_20016 262896 group of phenomes Chromosom 8q-Duplikation, partielle Duplicación parcial del cromosoma 8q Duplication partielle du chromosome 8q Duplicazione parziale del cromosoma 8q Partial duplication of chromosome 8q Partial trisomy of chromosome 8q Partial trisomy of the long arm of chromosome 8 Partielle Duplikation 8q Partielle Trisomie des langen Arms von Chromosom 8 Trisomia parziale del braccio lungo del cromosoma 8 Trisomia parziale del cromosoma 8q Trisomie partielle du bras long du chromosome 8 Trisomie partielle du chromosome 8q Trisomía parcial del brazo largo del cromosoma 8 Trisomía parcial del cromosoma 8q Chromosom 8, partielle Duplikation des langen Arms Duplicación parcial del brazo largo del cromosoma 8 Duplication partielle du bras long du chromosome 8 Duplicazione parziale del braccio lungo del cromosoma 8 Partial duplication of the long arm of chromosome 8 Partial trisomy of the long arm of chromosome 8 hrdo:pat_id_20017 262905 group of phenomes Chromosom 9q-Duplikation, partielle Duplicación parcial del brazo largo del cromosoma 9 Duplicación parcial del cromosoma 9q Duplication partielle du bras long du chromosome 9 Duplication partielle du chromosome 9q Duplicazione parziale del braccio lungo del cromosoma 9 Duplicazione parziale del cromosoma 9q Partial duplication of chromosome 9q Partial duplication of the long arm of chromosome 9 Partial trisomy of chromosome 9q Partielle Duplikation 9q Partielle Trisomie des langen Arms von Chromosom 9 Trisomia parziale del cromosoma 9q Trisomie partielle du chromosome 9q Trisomía parcial del cromosoma 9q Chromosom 9, partielle Duplikation des langen Arms Partial trisomy of the long arm of chromosome 9 Partial trisomy of the long arm of chromosome 9 Trisomia parziale del braccio lungo del cromosoma 9 Trisomie partielle du bras long du chromosome 9 Trisomía parcial del brazo largo del cromosoma 9 hrdo:pat_id_20018 262914 group of phenomes Chromosom 10q-Duplikation, partielle Duplicación parcial del cromosoma 10q Duplication partielle du chromosome 10q Duplicazione parziale del cromosoma 10q Partial duplication of chromosome 10q Partial trisomy of chromosome 10q Partial trisomy of the long arm of chromosome 10 Partielle Duplikation 10q Partielle Trisomie des langen Arms von Chromosom 10 Trisomia parziale del braccio lungo del cromosoma 10 Trisomia parziale del cromosoma 10q Trisomie partielle du bras long du chromosome 10 Trisomie partielle du chromosome 10q Trisomía parcial del brazo largo del cromosoma 10 Trisomía parcial del cromosoma 10q Chromosom 10, partielle Duplikation des langen Arms Duplicación parcial del brazo largo del cromosoma 10 Duplication partielle du bras long du chromosome 10 Duplicazione parziale del braccio lungo del cromosoma 10 Partial duplication of the long arm of chromosome 10 Partial trisomy of the long arm of chromosome 10 hrdo:pat_id_20019 262923 group of phenomes Chromosom 11q-Duplikation, partielle Duplicación parcial del cromosoma 11q Duplication partielle du chromosome 11q Duplicazione parziale del cromosoma 11q Partial duplication of chromosome 11q Partial trisomy of chromosome 11q Partial trisomy of the long arm of chromosome 11 Partielle Duplikation 11q Partielle Trisomie des langen Arms von Chromosom 11 Trisomia parziale del braccio lungo del cromosoma 11 Trisomia parziale del cromosoma 11q Trisomie partielle du bras long du chromosome 11 Trisomie partielle du chromosome 11q Trisomía parcial del brazo largo del cromosoma 11 Trisomía parcial del cromosoma 11q Chromosom 11, partielle Duplikation des langen Arms Duplicación parcial del brazo largo del cromosoma 11 Duplication partielle du bras long du chromosome 11 Duplicazione parziale del braccio lungo del cromosoma 11 Partial duplication of the long arm of chromosome 11 Partial trisomy of the long arm of chromosome 11 hrdo:pat_id_2002 138770 2090 malformation syndrome Disgenesia gonadal - atraso mental - baixa estatura Goniodisgenesia - déficit intelectual - talla baja Goniodisgenesia - ritardo mentale - bassa statura Goniodysgenesie - geistige Retardierung - Kleinwuchs Goniodysgenesis - intellectual deficit - short stature Goniodysgénésie - déficit intellectuel - petite taille GMS syndrome GMS-Syndrom Sindrome GMS Syndrome GMS Síndrome GMS Síndrome GMS hrdo:pat_id_20020 262932 group of phenomes Chromosom 13q-Duplikation, partielle Duplicación parcial del cromosoma 13q Duplication partielle du chromosome 13q Duplicazione parziale del cromosoma 13q Partial duplication of chromosome 13q Partial trisomy of chromosome 13q Partial trisomy of the long arm of chromosome 13 Partielle Duplikation 13q Partielle Trisomie des langen Arms von Chromosom 13 Trisomia parziale del braccio lungo del cromosoma 13 Trisomia parziale del cromosoma 13q Trisomie partielle du bras long du chromosome 13 Trisomie partielle du chromosome 13q Trisomía parcial del brazo largo del cromosoma 13 Trisomía parcial del cromosoma 13q Chromosom 13, partielle Duplikation des langen Arms Duplicación parcial del brazo largo del cromosoma 13 Duplication partielle du bras long du chromosome 13 Duplicazione parziale del braccio lungo del cromosoma 13 Partial duplication of the long arm of chromosome 13 Partial trisomy of the long arm of chromosome 13 hrdo:pat_id_20021 262941 group of phenomes Chromosom 14q-Duplikation, partielle Duplicación parcial del cromosoma 14q Duplication partielle du chromosome 14q Duplicazione parziale del cromosoma 14q Partial duplication of chromosome 14q Partial trisomy of chromosome 14q Partial trisomy of the long arm of chromosome 14 Partielle Duplikation 14q Partielle Trisomie des langen Arms von Chromosom 14 Trisomia parziale del braccio lungo del cromosoma 14 Trisomia parziale del cromosoma 14q Trisomie partielle du bras long du chromosome 14 Trisomie partielle du chromosome 14q Trisomía parcial del brazo largo del cromosoma 14 Trisomía parcial del cromosoma 14q Chromosom 14, partielle Duplikation des langen Arms Duplicación parcial del brazo largo del cromosoma 14 Duplication partielle du bras long du chromosome 14 Duplicazione parziale del braccio lungo del cromosoma 14 Partial duplication of the long arm of chromosome 14 Partial trisomy of the long arm of chromosome 14 hrdo:pat_id_20022 262950 group of phenomes Chromosom 15q-Duplikation, partielle Duplicación parcial del cromosoma 15q Duplication partielle du chromosome 15q Duplicazione parziale del cromosoma 15q Partial duplication of chromosome 15q Partial trisomy of chromosome 15q Partial trisomy of the long arm of chromosome 15 Partielle Duplikation 15q Partielle Trisomie des langen Arms von Chromosom 15 Trisomia parziale del braccio lungo del cromosoma 15 Trisomia parziale del cromosoma 15q Trisomie partielle du bras long du chromosome 15 Trisomie partielle du chromosome 15q Trisomía parcial del brazo largo del cromosoma 15 Trisomía parcial del cromosoma 15q Chromosom 15, partielle Duplikation des langen Arms Duplicación parcial del brazo largo del cromosoma 15 Duplication partielle du bras long du chromosome 15 Duplicazione parziale del braccio lungo del cromosoma 15 Partial duplication of the long arm of chromosome 15 Partial trisomy of the long arm of chromosome 15 hrdo:pat_id_20023 262959 group of phenomes Chromosom 16q-Duplikation, partielle Duplicación parcial del brazo largo del cromosoma 16 Duplicación parcial del cromosoma 16q Duplication partielle du bras long du chromosome 16 Duplication partielle du chromosome 16q Duplicazione parziale del braccio lungo del cromosoma 16 Duplicazione parziale del cromosoma 16q Partial duplication of chromosome 16q Partial duplication of the long arm of chromosome 16 Partial trisomy of chromosome 16q Partielle Duplikation 16q Partielle Trisomie des langen Arms von Chromosom 16 Trisomia parziale del cromosoma 16q Trisomie partielle du chromosome 16q Trisomía parcial del cromosoma 16q Chromosom 16, partielle Duplikation des langen Arms Partial trisomy of the long arm of chromosome 16 Partial trisomy of the long arm of chromosome 16 Trisomia parziale del braccio lungo del cromosoma 16 Trisomie partielle du bras long du chromosome 16 Trisomía parcial del brazo largo del cromosoma 16 hrdo:pat_id_20024 262968 group of phenomes Chromosom 17q-Duplikation, partielle Duplicación parcial del cromosoma 17q Duplication partielle du chromosome 17q Duplicazione parziale del cromosoma 17q Partial duplication of chromosome 17q Partial trisomy of chromosome 17q Partial trisomy of the long arm of chromosome 17 Partielle Duplikation 17q Partielle Trisomie des langen Arms von Chromosom 17 Trisomia parziale del braccio lungo del cromosoma 17 Trisomia parziale del cromosoma 17q Trisomie partielle du bras long du chromosome 17 Trisomie partielle du chromosome 17q Trisomía parcial del brazo largo del cromosoma 17 Trisomía parcial del cromosoma 17q Chromosom 17, partielle Duplikation des langen Arms Duplicación parcial del brazo largo del cromosoma 17 Duplication partielle du bras long du chromosome 17 Duplicazione parziale del braccio lungo del cromosoma 17 Partial duplication of the long arm of chromosome 17 Partial trisomy of the long arm of chromosome 17 hrdo:pat_id_20025 262977 group of phenomes Chromosom 18q-Duplikation, partielle Duplicación parcial del brazo largo del cromosoma 18 Duplicación parcial del cromosoma 18q Duplication partielle du bras long du chromosome 18 Duplication partielle du chromosome 18q Duplicazione parziale del braccio lungo del cromosoma 18 Duplicazione parziale del cromosoma 18q Partial duplication of chromosome 18q Partial duplication of the long arm of chromosome 18 Partial trisomy of chromosome 18q Partielle Duplikation 18q Partielle Trisomie des langen Arms von Chromosom 18 Trisomia parziale del cromosoma 18q Trisomie partielle du chromosome 18q Trisomía parcial del cromosoma 18q Chromosom 18, partielle Duplikation des langen Arms Partial trisomy of the long arm of chromosome 18 Partial trisomy of the long arm of chromosome 18 Trisomia parziale del braccio lungo del cromosoma 18 Trisomie partielle du bras long du chromosome 18 Trisomía parcial del brazo largo del cromosoma 18 hrdo:pat_id_20026 262986 group of phenomes Chromosom 19q-Duplikation, partielle Duplicación parcial del cromosoma 19q Duplication partielle du chromosome 19q Duplicazione parziale del cromosoma 19q Partial duplication of chromosome 19q Partial trisomy of chromosome 19q Partial trisomy of the long arm of chromosome 19 Partielle Duplikation 19q Partielle Trisomie des langen Arms von Chromosom 19 Trisomia parziale del braccio lungo del cromosoma 19 Trisomia parziale del cromosoma 19q Trisomie partielle du bras long du chromosome 19 Trisomie partielle du chromosome 19q Trisomía parcial del brazo largo del cromosoma 19 Trisomía parcial del cromosoma 19q Chromosom 19, partielle Duplikation des langen Arms Duplicación parcial del brazo largo del cromosoma 19 Duplication partielle du bras long du chromosome 19 Duplicazione parziale del braccio lungo del cromosoma 19 Partial duplication of the long arm of chromosome 19 Partial trisomy of the long arm of chromosome 19 hrdo:pat_id_20027 262995 group of phenomes Chromosom 20q-Duplikation, partielle Duplicación parcial del brazo largo del cromosoma 20 Duplicación parcial del cromosoma 20q Duplication partielle du bras long du chromosome 20 Duplication partielle du chromosome 20q Duplicazione parziale del braccio lungo del cromosoma 20 Duplicazione parziale del cromosoma 20q Partial duplication of chromosome 20q Partial duplication of the long arm of chromosome 20 Partial trisomy of chromosome 20q Partielle Duplikation 20q Partielle Trisomie des langen Arms von Chromosom 20 Trisomia parziale del cromosoma 20q Trisomie partielle du chromosome 20q Trisomía parcial del cromosoma 20q Chromosom 20, partielle Duplikation des langen Arms Partial trisomy of the long arm of chromosome 20 Partial trisomy of the long arm of chromosome 20 Trisomia parziale del braccio lungo del cromosoma 20 Trisomie partielle du bras long du chromosome 20 Trisomía parcial del brazo largo del cromosoma 20 hrdo:pat_id_20028 263004 group of phenomes Chromosom 22q-Duplikation, partielle Duplicación parcial del cromosoma 22q Duplication partielle du chromosome 22q Duplicazione parziale del cromosoma 22q Partial duplication of chromosome 22q Partial trisomy of chromosome 22q Partial trisomy of the long arm of chromosome 22 Partielle Duplikation 22q Partielle Trisomie des langen Arms von Chromosom 22 Trisomia parziale del braccio lungo del cromosoma 22 Trisomia parziale del cromosoma 22q Trisomie partielle du bras long du chromosome 22 Trisomie partielle du chromosome 22q Trisomía parcial del brazo largo del cromosoma 22 Trisomía parcial del cromosoma 22q Chromosom 22, partielle Duplikation des langen Arms Duplicación parcial del brazo largo del cromosoma 22 Duplication partielle du bras long du chromosome 22 Duplicazione parziale del braccio lungo del cromosoma 22 Partial duplication of the long arm of chromosome 22 Partial trisomy of the long arm of chromosome 22 hrdo:pat_id_20029 263019 group of phenomes UPD(1) UPD(1) UPD(1) UPD(1) UPD1 Disomia uniparentale del cromosoma 1 Disomie uniparentale du chromosome 1 Disomía uniparental del cromosoma 1 Uniparental Disomie 1 Uniparental disomy of chromosome 1 Uniparental disomy of chromosome 1 hrdo:pat_id_2003 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 138790 neant Q87.8 2091 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anomalias tiroido-nefro-digitais Anomalie tiroide-rene-dita Anomalien der Schilddrüse, Nieren und Finger Anomalies thyroïde-rein-doigts Daneman-Davy-Mancer syndrome Daneman-Davy-Mancer, síndrome de Daneman-Davy-Mancer-Syndrom Sindrome di Daneman Davy Mancer Sindrome di Daneman-Davy-Mancer Syndrome de Daneman-Davy-Mancer Síndrome de Daneman-Davy-Mancer Síndrome de Daneman-Davy-Mancer Thyroid-renal-digital anomalies Bocio multinodular - riñón quístico - polidactilia Bócio multinodular - rim quístico - polidactilia Goitre multinodulaire - rein kystique - polydactylie Gozzo multinodulare - rene cistico - polidattilia Multinodular goiter - cystic kidney - polydactyly Struma, mehrknotig - Nierenzysten - Polydaktylie hrdo:pat_id_20030 263024 group of phenomes UPD(6) UPD(6) UPD(6) UPD(6) UPD6 Disomia uniparentale del cromosoma 6 Disomie uniparentale du chromosome 6 Disomía uniparental del cromosoma 6 Uniparental Disomie 6 Uniparental disomy of chromosome 6 Uniparental disomy of chromosome 6 hrdo:pat_id_20031 263029 group of phenomes UPD(7) UPD(7) UPD(7) UPD(7) UPD7 Disomia uniparentale del cromosoma 7 Disomie uniparentale du chromosome 7 Disomía uniparental del cromosoma 7 Uniparental Disomie 7 Uniparental disomy of chromosome 7 Uniparental disomy of chromosome 7 hrdo:pat_id_20032 263034 group of phenomes UPD(11) UPD(11) UPD(11) UPD(11) UPD11 Disomia uniparentale del cromosoma 11 Disomie uniparentale du chromosome 11 Disomía uniparental del cromosoma 11 Uniparental Disomie 11 Uniparental disomy of chromosome 11 Uniparental disomy of chromosome 11 hrdo:pat_id_20034 263044 group of phenomes UPD(13) UPD(13) UPD(13) UPD(13) UPD13 Disomia uniparentale del cromosoma 13 Disomie uniparentale du chromosome 13 Disomía uniparental del cromosoma 13 Uniparental Disomie 13 Uniparental disomy of chromosome 13 Uniparental disomy of chromosome 13 hrdo:pat_id_20035 263049 group of phenomes UPD(14) UPD(14) UPD(14) UPD(14) UPD14 Disomia uniparentale del cromosoma 14 Disomie uniparentale du chromosome 14 Disomía uniparental del cromosoma 14 Uniparental Disomie 14 Uniparental disomy of chromosome 14 Uniparental disomy of chromosome 14 hrdo:pat_id_20036 263054 group of phenomes UPD(15) UPD(15) UPD(15) UPD(15) UPD15 Disomia uniparentale del cromosoma 15 Disomie uniparentale du chromosome 15 Disomía uniparental del cromosoma 15 Uniparental Disomie 15 Uniparental disomy of chromosome 15 Uniparental disomy of chromosome 15 hrdo:pat_id_20037 263059 group of phenomes UPD(20) UPD(20) UPD(20) UPD(20) UPD20 Disomia uniparentale del cromosoma 20 Disomie uniparentale du chromosome 20 Disomía uniparental del cromosoma 20 Uniparental Disomie 20 Uniparental disomy of chromosome 20 Uniparental disomy of chromosome 20 hrdo:pat_id_20038 263064 group of phenomes UPD(21) UPD(21) UPD(21) UPD(21) UPD21 Disomia uniparentale del cromosoma 21 Disomie uniparentale du chromosome 21 Disomía uniparental del cromosoma 21 Uniparental Disomie 21 Uniparental disomy of chromosome 21 Uniparental disomy of chromosome 21 hrdo:pat_id_20039 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 613507 neant E74.0 263297 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Enfermedad de almacenamiento de glucógeno tipo 15 Enfermedad de almacenamiento de glucógeno tipo XV GSD Typ 15 GSD da deficit di glicogenina GSD due to glycogenin deficiency GSD par déficit en glycogénine GSD por déficit de glucogenina GSD tipo 15 GSD tipo XV GSD type 15 GSD type 15 GSD type XV GSD type XV GSD, tipo 15 GSD, tipo XV GSDXV Glicogenosi da deficit di glicogenina Glicogenosi, tipo 15 Glicogenosi, tipo XV Glucogenosis por déficit de glucogenina Glucogenosis tipo 15 Glucogenosis tipo XV Glycogen storage disease type 15 Glycogen storage disease type XV Glycogenin-Mangel Glycogenosis due to glycogenin deficiency Glycogénose type 15 Glycogénose type XV Glykogen-Speicherkrankheit Typ 15 Malattia da deposito di glicogeno, tipo 15 Malattia da deposito di glicogeno, tipo XV Type 15 glycogenosis Type XV glycogenosis Enfermedad de almacenamiento de glucógeno por déficit de glucogenina Glycogen storage disease due to glycogenin deficiency Glycogen storage disease type 15 Glycogénose par déficit en glycogénine Glykogenose Typ 15 Malattia da deposito di glicogeno dovuto a deficit di glicogenina hrdo:pat_id_2004 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 305600 D005489 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Focal+dermal+hypoplasia%5Bti%5D+OR+Focal+dermal+hypoplasia%5Bmajr%5D+OR+Goltz+syndrome%5Btw%5D+OR+(Van+Allen%5B1au%5D+consanguinous%5Bti%5D) Q82.8 2092 205573006 2298005 C0016395 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Goltz syndrome Goltz, síndrome de Goltz-Gorlin syndrome Goltz-Syndrom Hipoplasia cutis focal Sindrome di Goltz Syndrome de Goltz Syndrome de Goltz-Gorlin Síndrome de Goltz Síndrome de Goltz Focal dermal hypoplasia Hipoplasia dérmica focal Hipoplasia dérmica focal Hypoplasie dermique en aires Hypoplasie, fokale dermale Ipoplasia focale del derma hrdo:pat_id_20040 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant C37 D15.0 263310 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch histopathological subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Neoplasia epitelial primaria tímica de tipo A Neoplasia epiteliale primitiva del timo, tipo A Néoplasie épithéliale thymique primitive type A Primary thymic epithelial neoplasm type A Primary thymic epithelial tumor type A Thymustumor, epithelialer primärer, Typ A Tumeur épithéliale thymique primitive type A Tumor epitelial primario tímica de tipo A Tumore epiteliale primitivo del timo, tipo A Thymom Typ A Thymoma type A Thymoma type A Thymome type A Timoma tipo A Timoma, tipo A hrdo:pat_id_20041 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant C37 D15.0 263317 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch histopathological subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Neoplasia epitelial primaria tímica de tipo B Neoplasia epiteliale primitiva del timo, tipo B Néoplasie épithéliale thymique primitive type B Primary thymic epithelial neoplasm type B Primary thymic epithelial tumor type B Thymustumor, epithelialer primärer, Typ B Tumeur épithéliale thymique primitive type B Tumor epitelial primario tímica de tipo B Tumore epiteliale primitivo del timo, tipo B Thymom Typ B Thymoma type B Thymoma type B Thymome type B Timoma tipo B Timoma, tipo B hrdo:pat_id_20042 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant C37 D15.0 263324 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch histopathological subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Neoplasia epitelial primaria tímica de tipo AB Neoplasia epiteliale primitiva del timo, tipo AB Néoplasie épithéliale thymique primitive type AB Primary thymic epithelial neoplasm type AB Primary thymic epithelial tumor type AB Thymustumor, epithelialer primärer, Typ AB Tumeur épithéliale thymique primitive type AB Tumor epitelial primario tímica de tipo AB Tumore epiteliale primitivo del timo, tipo AB Thymom Typ AB Thymoma type AB Thymoma type AB Thymome type AB Timoma tipo AB Timoma, tipo AB hrdo:pat_id_20043 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant C37 263331 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch histopathological subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CNET bien différencié Carcinoma neuroendocrino timico ben differenziato Carcinoma neuroendocrino tímico bien diferenciado Carcinome neuroendocrine thymique bien différencié Thymuskarzinom, neuroendokrines, gut-differenziert Well-differentiated thymic neuroendocrine carcinoma Well-differentiated thymic neuroendocrine carcinoma hrdo:pat_id_20044 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant C37 263335 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch histopathological subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CNET moyennement différencié Carcinoma neuroendocrino timico moderatamente differenziato Carcinoma neuroendocrino tímico moderadamente diferenciado Carcinome neuroendocrine thymique moyennement différencié Moderately-differentiated thymic neuroendocrine carcinoma Moderately-differentiated thymic neuroendocrine carcinoma Thymuskarzinom, neuroendokrines, moderat-differenziert hrdo:pat_id_20045 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant C37 263339 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch histopathological subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CNET peu différencié Carcinoma neuroendocrino timico scarsamente differenziato Carcinoma neuroendocrino tímico pobremente diferenciado Carcinome neuroendocrine thymique peu différencié Poorly-differentiated thymic neuroendocrine carcinoma Poorly-differentiated thymic neuroendocrine carcinoma Thymuskarzinom, neuroendokrines, undifferenziert hrdo:pat_id_20046 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 193220 neant 263347 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Microcornea, distrofia dei coni e dei bastoncelli, cataratta e stafiloma posteriore Microcornea, rod-cone dystrophy, cataract and posterior staphyloma Microcornée, dystrophie des cônes et des bâtonnets, cataracte et staphylome postérieur Microcórnea, distrofia de conos y bastones, cataratas y estafiloma posterior Mikrokornea - Zapfen-Stäbchen-Dystrophie -Katarakt - posteriores Staphylom MRCS syndrome MRCS syndrome MRCS-Syndrom Sindrome MRCS Syndrome MRCS Síndrome MRCS hrdo:pat_id_20047 263352 particular clinical situation in a disease or syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Insufficienza ventricolare destra postcardiotomica Insuffisance cardiaque droite post-cardiotomie Insuficiencia ventricular derecha postcardiotomía Postcardiotomy right ventricular failure Postcardiotomy right ventricular failure Postkardiotomie-Syndrom mit rechtsventrikulären Versagen hrdo:pat_id_20048 263355 group of phenomes ATR-X related syndrome ATR-X-abhängiges Syndrom ATR-X-related syndrome ATR-X-related syndrome Sindrome legata ad ATR-X Síndrome ATR ligado al X hrdo:pat_id_20049 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 263410 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Espasmos infantiles - retraso psicomotor - atrofia cerebral progresiva - enfermedad de los ganglios basales Infantile Spasmen - psychomotorische Retardierung - progressive Hirnatrophie- Basalganglienerkrankung Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease Spasmes infantiles - retard psychomoteur - atrophie cérébrale progressive - anomalie des ganglions de la base Spasmi infantili - ritardo psicomotorio - atrofia cerebrale progressiva - anomalia dei gangli basali hrdo:pat_id_20050 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 263413 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Angiosarcoma Angiosarcoma Angiosarcoma Angiosarcoma Angiosarcome Angiosarkom hrdo:pat_id_20051 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant E26.8 263417 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype Bartter syndrome type 5 Bartter syndrome type V Bartter-Syndrom Typ 5 Sindrome di Bartter, tipo 5 Sindrome di Bartter, tipo V Syndrome de Bartter type 5 Syndrome de Bartter type V Síndrome de Bartter tipo 5 Síndrome de Bartter tipo V Bartter syndrome with hypocalcemia Bartter syndrome with hypocalcemia Bartter-Syndrom mit Hypokalzämie Sindrome di Bartter con ipocalcemia Syndrome de Bartter avec hypocalcémie Síndrome de Bartter con hipocalcemia hrdo:pat_id_20052 Variabel Variabile Variable Variable Variable Variable Variável neant D22.3 263425 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Nevus fusco-cerúleo oftálmico maxilar Nevus fusculocoeruleus ophthalmomaxillaris Nevus fusculocoeruleus ophthalmomaxillaris Nevus fusculocoeruleus ophthalmomaxillaris Naevus Ota Nevo di Ota Nevus de Ota Nevus de Ota Nevus of Ota Nevus of Ota hrdo:pat_id_20053 Variabel Variabile Variable Variable Variable Variable Variável neant D22.6 263432 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Naevus Ito Nevus de Ito Nevus de Ito Nevus di Ito Nevus of Ito Nevus of Ito hrdo:pat_id_20054 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 263435 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Amartoma muscolare liscio congenito Congenital smooth muscle hamartoma Congenital smooth muscle hamartoma Hamartom der glatten Muskulatur, kongenitales Hamartoma congénito de músculo liso Hamartome musculaire lisse congénital hrdo:pat_id_20055 263440 group of phenomes <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Neuroacanthocytose Neuroacanthocytosis Neuroacanthocytosis Neuroacantocitosi Neuroacantocitosis Neuroakanthozytose hrdo:pat_id_20056 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant E16.1 263455 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hipoglucemia hiperinsulinémica por déficit de HNF4A Hyperinsulinemic hypoglycemia due to HNF4A deficiency Hypoglycémie hyperinsulinémique par déficit en HNF4A Hypoglykämie, hyperinsulinämische, durch HNF4A-Mangel Ipoglicemia iperinsulinemica da deficit di HNF4A Hiperinsulinismo por déficit de HNF4A Hyperinsulinism due to HNF4A deficiency Hyperinsulinism due to HNF4A deficiency Hyperinsulinisme par déficit en HNF4A Hyperinsulinismus durch HNF4A-Mangel Iperinsulinismo da deficit di HNF4A hrdo:pat_id_20057 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 609968 neant E16.1 263458 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hipoglucemia hiperinsulinémica por déficit de INSR Hipoglucemia hiperinsulinémica por déficit de receptor de insulina Hyperinsulinemic hypoglycemia due to INSR deficiency Hyperinsulinemic hypoglycemia due to insulin receptor deficiency Hypoglycémie hyperinsulinémique par déficit en INSR Hypoglycémie hyperinsulinémique par déficit en récepteur à l'insuline Hypoglykämie, hyperinsulinämische, durch INSR-Mangel Hypoglykämie, hyperinsulinämische, durch Insulin-Rezeptor-Mangel Ipoglicemia iperinsulinemica da deficit del recettore dell'insulina Ipoglicemia iperinsulinemica da deficit di INSR Hiperinsulinismo por déficit de INSR Hyperinsulinemic hypoglycemia due to INSR deficiency Hyperinsulinism due to INSR deficiency Hyperinsulinisme par déficit en INSR Hyperinsulinismus durch INSR-Mangel Iperinsulinismo da deficit di INSR hrdo:pat_id_20058 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 143095 neant Q74.8 263463 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Autosomal recessive Larsen syndrome Chondrodysplasia with congenital joint dislocations, CHST3 type Chondrodysplasie avec luxations congénitales type CHST3 Chondrodysplasie mit kongenitalen Gelenksdislokationen Typ CHST3 Condrodisplasia con dislocazioni articolari congenite, tipo CHST3 Condrodisplasia con luxaciones articulares congénitas, tipo CHST3 Dysplasie spondyloépiphysaire avec luxations congénitales type CHST3 Larsen-Syndrom, autosomal-rezessives SDCD type CHST3 SDCD, CHST3 type Sindrome di Larsen autosomica recessiva Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type Syndrome de Larsen autosmique récessif Síndrome de Larsen autosómico recesivo CHST3-assoziierte Skelettdysplasie CHST3-related skeletal dysplasia Chondrodysplasia with multiple dislocations Displasia esquelética asociada a CHST3 Displasia scheletrica associata a CHST3 Dysplasie squellettique associée à CHST3 hrdo:pat_id_20060 neant H20.8 263479 disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 FHI FHI FHI FHI FHI Fuchs heterochromic iridocyclitis Fuchs heterochromic iridocyclitis Heterochromiezyklitis Fuchs Iridociclite eterocromica di Fuchs Iridociclitis heterocrómica de Fuchs Iridocyclite hétérochromique de Fuchs hrdo:pat_id_20061 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 184095 neant Q77.7 263482 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Pseudo-Morquio syndrome type 2 Pseudo-Morquio-Syndrom Typ 2 Sindrome pseudo-Morquio, tipo 2 Syndrome pseudo-Morquio type 2 Síndrome pseudo-Morquio tipo 2 Displasia espondiloepifisaria tipo Maroteaux Displasia spondiloepifisaria, tipo Maroteaux Dysplasie spondylo-épiphysaire type Maroteaux Dysplasie, spondyloepiphysäre, Typ Maroteaux Spondyloepiphyseal dysplasia, Maroteaux type Spondyloepiphyseal dysplasia, Maroteaux type hrdo:pat_id_20062 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 613612 neant E77.8 263487 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anomalie congénitale de la glycosylation type IIi CDG (Congenital Disorder of Glycosylation) Typ Iii CDG syndrome type IIi CDG-IIi CDG-IIi CDG-IIi CDG-IIi CDG2I CDG2I CDG2I CDG2I CDG2I Carbohydrate deficient glycoprotein syndrome type IIi Congenital disorder of glycosylation type IIi Disturbo congenito della glicosilazione, tipo IIi Kohlenhydrat-defizientes Glykoprotein-Syndrom Iii Kongenitaler Defekt der Glycoproteinbiosynthese Typ Iii Sindrome CDG, tipo IIi Sindrome delle glicoproteine carenti in carboidrati, tipo IIi Syndrome CDG type IIi Syndrome des glycoprotéines déficientes en hydrates de carbone type IIi Síndrome CDG tipo IIi Síndrome de glicoproteínas deficientes en carbohidratos tipo IIi Trastorno congénito de la glicosilación tipo IIi CDG syndrome type IIi CDG-Syndrom Typ IIi COG5-CDG syndrome Sindrome COG5-CDG Syndrome COG5-CDG Síndrome COG5-CDG hrdo:pat_id_20063 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 612937 neant E77.8 263494 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anomalie congénitale de la glycosylation type Io CDG (Congenital Disorder of Glycosylation) Typ Io CDG syndrome type Io CDG-Io CDG-Io CDG-Io CDG-Io CDG1O CDG1O CDG1O CDG1O CDG1O Carbohydrate deficient glycoprotein syndrome type Io Congenital disorder of glycosylation type Io Disturbo congenito della glicosilazione, tipo Io Kohlenhydrat-defizientes Glykoprotein-Syndrom Io Kongenitaler Defekt der Glycoproteinbiosynthese Typ Io Sindrome CDG, tipo Io Sindrome delle glicoproteine carenti in carboidrati, tipo Io Syndrome CDG type Io Syndrome des glycoprotéines déficientes en hydrates de carbone type Io Síndrome CDG tipo Io Síndrome de glicoproteínas deficientes en carbohidratos tipo lo Trastorno congénito de la glicosilación tipo Io CDG syndrome type Io CDG-Syndrom Typ Io DPM3-CDG syndrome Sindrome DPM3-CDG Syndrome DPM3-CDG Síndrome DPM3-CDG hrdo:pat_id_20064 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613489 neant E77.8 263501 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anomalie congénitale de la glycosylation type IIj CDG (Congenital Disorder of Glycosylation) Typ Iij CDG syndrome type IIj CDG-IIj CDG-IIj CDG-IIj CDG-IIj CDG2J CDG2J CDG2J CDG2J CDG2J Carbohydrate deficient glycoprotein syndrome type IIj Congenital disorder of glycosylation type IIj Disturbo congenito della glicosilazione, tipo IIj Kohlenhydrat-defizientes Glykoprotein-Syndrom Iij Kongenitaler Defekt der Glycoproteinbiosynthese Typ IIj Sindrome CDG, tipo IIj Sindrome delle glicoproteine carenti in carboidrati, tipo IIj Syndrome CDG type IIj Syndrome des glycoprotéines déficientes en hydrates de carbone type IIj Síndrome CDG tipo IIj Síndrome de glicoproteínas deficientes en carbohidratos tipo IIj Trastorno congénito de la glicosilación tipo IIj CDG syndrome type IIj CDG-Syndrom Typ IIj COG4-CDG syndrome Sindrome COG4-CDG Syndrome COG4-CDG Síndrome COG4-CDG hrdo:pat_id_20065 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 611209 neant E77.8 263508 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anomalie congénitale de la glycosylation type IIg CDG (Congenital Disorder of Glycosylation) Typ IIg CDG syndrome type IIg CDG-IIg CDG-IIg CDG-IIg CDG-IIg CDG2G CDG2G CDG2G CDG2G CDG2G Carbohydrate deficient glycoprotein syndrome type IIg Congenital disorder of glycosylation type IIg Disturbo congenito della glicosilazione, tipo IIg Kohlenhydrat-defizientes Glykoprotein-Syndrom IIg Kongenitaler Defekt der Glycoproteinbiosynthese Typ IIg Sindrome CDG, tipo IIg Sindrome delle glicoproteine carenti in carboidrati, tipo IIg Syndrome CDG type IIg Syndrome des glycoprotéines déficientes en hydrates de carbone type IIg Síndrome CDG tipo IIg Síndrome de glicoproteínas deficientes en carbohidratos tipo IIg Trastorno congénito de la glicosilación tipo IIg CDG syndrome type IIg CDG-Syndrom Typ IIg COG1-CDG syndrome Sindrome COG1-CDG Syndrome COG1-CDG Síndrome COG1-CDG hrdo:pat_id_20066 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 611726 neant G40.3 263516 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Epilepsia mioclónica progresiva por deficiencia de KCTD7 Epilepsia mioclónica progresiva por déficit de KCTD7 Epilepsie myocloniqe progressive par déficit en KCTD7 Epilessia mioclonica progressiva da deficit di KCTD7 Myoklonusepilepsie, progressive, durch KCTD7-Mangel Progressive myoclonic epilepsy due to KCTD7 deficiency Epilepsia mioclónica progresiva tipo 3 Epilepsie myoclonique progressive type 3 Epilessia mioclonica progressiva, tipo 3 Myoklonusepilepsie, progressive, Typ 3 Progressive myoclonic epilepsy type 3 Progressive myoclonic epilepsy type 3 hrdo:pat_id_20067 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 608033 614212 neant G31.8 263524 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown ANE aislada ANE isolata ANE isolé ANE, isolierte ANEC ANEC ANEC ANEC ANEC ENA aislada Encefalopatia necrotizzante acuta isolata Encefalopatía necrotizante aguda aislada Encéphalopathie nécrosante aiguë isolée Enzephalopathie, akute nekrotisierende, isolierte Form Isolated ANE Isolated acute necrotizing encephalopathy Acute necrotizing encephalopathy of childhood Acute necrotizing encephalopathy of childhood Encefalopatia necrotizzante acuta dell'infanzia Encefalopatía necrotizante aguda de la infancia Encéphalopathie nécrosante aiguë de l'enfant Enzephalopathie, nekrotisierende, akute, der Kindheit hrdo:pat_id_20068 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 609796 neant Q80.8 263534 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Localized deciduous skin Peau déciduale localisée Pelle deciduale localizzata Piel decidual localizada 'Sindrome ''peeling skin'' localizzata' Localized peeling skin syndrome Localized peeling skin syndrome Peeling skin syndrome localisé Peeling-Skin-Syndrom, lokalisiertes Síndrome localizado de descamación de la piel hrdo:pat_id_20069 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q80.8 263543 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Generalized deciduous skin Peau déciduale généralisée Pelle deciduale generalizzata Piel decidual generalizada 'Sindrome ''peeling skin'' generalizzata ' Generalized peeling skin syndrome Generalized peeling skin syndrome Peeling skin syndrome généralisé Peeling-Skin-Syndrom, generalisiertes Síndrome generalizado de descamación de la piel hrdo:pat_id_2007 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 114300 C537288 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Arthrogryposis+distal+%28type3%5Btw%5D+OR+type2a%5Btw%5D+OR+type+IIa%5Btw%5D%29%29+OR+%28Camptodactyl*+cleft+palate+clubfoot%29 Q87.8 376 237850008 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Arthrogrypose distale type 3 Arthrogrypose distale type IIA Arthrogrypose, distale, Typ 2A Arthrogrypose, distale, Typ 3 Artrogripose distal tipo 3 Artrogripose distal tipo IIA Artrogriposi distale, tipo 2A Artrogriposi distale, tipo 3 Campodactilia - paladar hendido - pie zambo Camptodactilia - fenda do palato - pés botos Camptodactylie - pied bot - fente palatine Camptodactyly - cleft palate- clubfoot Camptodattilia - palatoschisi - piedi torti Distal arthrogryposis type 3 Distal arthrogryposis type IIA Kamptodaktylie - Gaumenspalte - Klumpfuß Gordon syndrome Gordon-Syndrom Sindrome di Gordon Syndrome de Gordon Síndrome de Gordon Síndrome de Gordon hrdo:pat_id_20070 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q80.8 263548 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Generalized deciduous skin type A Peau déciduale généralisée type A Pelle deciduale generalizzata, tipo A Piel decidual generalizada tipo A 'Sindrome ''peeling skin'' generalizzata, tipo A ' Generalized peeling skin syndrome type A Generalized peeling skin syndrome type A Peeling skin syndrome généralisé type A Peeling-Skin-Syndrom, generalisiertes, Typ A Síndrome generalizado de descamación de la piel tipo A hrdo:pat_id_20071 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 270300 neant Q80.8 263553 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Generalized deciduous skin type B Peau déciduale généralisée type B Pelle deciduale generalizzata, tipo B Piel decidual generalizada tipo B 'Sindrome ''peeling skin'' generalizzata, tipo B ' Generalized peeling skin syndrome type B Generalized peeling skin syndrome type B Peeling skin syndrome généralisé type B Peeling-Skin-Syndrom, generalisiertes, Typ B Síndrome generalizado de descamación de la piel tipo B hrdo:pat_id_20072 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q80.8 263558 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Generalized deciduous skin type C Peau déciduale généralisée type C Pelle deciduale generalizzata, tipo C Piel decidual generalizada tipo C 'Sindrome ''peeling skin'' generalizzata, tipo C' Generalized peeling skin syndrome type C Generalized peeling skin syndrome type C Peeling skin syndrome généralisé type C Peeling-Skin-Syndrom, generalisiertes, Typ C Síndrome generalizado de descamación de la piel tipo C hrdo:pat_id_20073 Variabel Variabile Variable Variable Variable Variable Variável 607174 neant 263662 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Familial multiple meningioma Familial multiple meningioma Meningiom, familiäre multiples Meningioma familiar múltiple Meningiomi multipli familiari Méningiomes multiples familiaux hrdo:pat_id_20074 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 263665 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Enteropatia a cellule NK Enteropatía de células NK Entéropathie à cellules NK NK-cell enteropathy NK-cell enteropathy T-Zell-Lymphom, Enteropathie-assoziiertes hrdo:pat_id_20075 263676 group of phenomes Epidermolisi bollosa ereditaria associata a segni oculari Epidermolyse bulleuse héréditaire avec atteintes oculaires Epidermolysis bullosa, hereditäre, mit assoziierter Augenstörung Epidermólisis ampollosa hereditaria asociada con afectación ocular Hereditary epidermolysis bullosa associated with ocular features Hereditary epidermolysis bullosa associated with ocular features hrdo:pat_id_20076 263708 group of phenomes Complex chromosomal rearrangement Complex chromosomal rearrangement Komplexes chromosomales Rearrangement Reordenamiento cromosómico complejo Riarrangiamento cromosomico complesso Réarrangement chromosomique complexe hrdo:pat_id_20077 263711 group of phenomes Anomalia del cromosoma X Anomalie du chromosome X Anomalía del cromosoma X Chromosom X-Anomalie X chromosome anomaly X chromosome anomaly hrdo:pat_id_20078 263714 group of phenomes Anomalia numerica del cromosoma X Anomalie du nombre de chromosome X Anomalía en el número de cromosoma X Chromosom X-Anomalie, numerische X chromosome number anomaly X chromosome number anomaly hrdo:pat_id_20079 263717 group of phenomes Anomalia numerica del cromosoma X con fenotipo femminile Anomalie du nombre de chromosome X avec phénotype féminin Anomalía en el número de cromosoma X con fenotipo femenino Chromosom X-Anomalie, numerische, weiblicher Phänotyp X chromosome number anomaly with female phenotype X chromosome number anomaly with female phenotype hrdo:pat_id_2008 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 233500 C537290 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Gorlin-Chaudhry-Moss+syndrome Q87.0 2095 205800003 C0345382 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Craniofacial dysostosis - genital, dental, cardiac anomalies Disostose craniofacial - anomalias genito-dento-cardíacas Disostosi craniofacciale - anomalie genitali, dentali e cardiache Disostosis craneofacial - anomalías genitales-dentales-cardíacas Dysostose craniofaciale - anomalies génitales, dentaires et cardiaques Kraniofaziale Dysostose - Genital-/Zahn-/Herzanomalien Gorlin-Chaudhry-Moss syndrome Gorlin-Chaudhry-Moss-Syndrom Sindrome di Gorlin-Chaudhry-Moss Syndrome de Gorlin-Chaudhry-Moss Síndrome de Gorlin-Chaudry-Moss Síndrome de Gorlin-Chaudry-Moss hrdo:pat_id_20080 263720 group of phenomes Anomalia numerica del cromosoma X con fenotipo maschile Anomalie du nombre de chromosome X avec phénotype masculin Anomalía en el número de cromosoma X con fenotipo masculino Chromosom X-Anomalie, numerische , männlicher Phänotyp X chromosome number anomaly with male phenotype X chromosome number anomaly with male phenotype hrdo:pat_id_20081 263723 group of phenomes Chromosom X-Polysomie Polisomia del cromosoma X Polisomía del cromosoma X Polysomie du chromosome X Polysomy of X chromosome Polysomy of X chromosome hrdo:pat_id_20082 neant Q99.8 263726 group of phenomes Monosomia parziale del cromosoma X Monosomie partielle du chromosome X Monosomía parcial del cromosoma X Partial monosomy of chromosome X Partielle Monosomie des Chromosom X Chromosom X-Deletion, partielle Deleción parcial del cromosoma X Delezione parziale del cromosoma X Délétion partielle du chromosome X Partial deletion of chromosome X Partial deletion of chromosome X hrdo:pat_id_20083 neant Q99.8 263731 group of phenomes Chromosom Xp-Deletion, partielle Duplicación parcial del brazo corto del cromosoma X Duplicación parcial del cromosoma Xp Duplication partielle du bras court du chromosome X Duplication partielle du chromosome Xp Duplicazione parziale del braccio corto del cromosoma X Duplicazione parziale del cromosoma Xp Monosomia parziale del cromosoma Xp Monosomie partielle du chromosome Xp Monosomía parcial del cromosoma Xp Partial duplication of chromosome Xp Partial duplication of the short arm of chromosome X Partial monosomy of chromosome Xp Partielle Monosomie Xp Partielle Monosomie des kurzen Arms von Chromosom X Chromosom X, partielle Deletion des kurzen Arms Monosomia parziale del braccio corto del cromosoma X Monosomie partielle du bras court du chromosome X Monosomía parcial del brazo corto del cromosoma X Partial monosomy of the short arm of chromosome X Partial monosomy of the short arm of chromosome X hrdo:pat_id_20085 263746 group of phenomes Anomalia numerica del cromosoma Y Anomalie du nombre de chromosome Y Anomalía en el número de cromosoma Y Chromosom Y-Anomalie, numerische Y chromosome number anomaly Y chromosome number anomaly hrdo:pat_id_20086 neant Q98.8 263749 group of phenomes Anomalia dei cromosomi X e Y Anomalie des chromosomes X et Y Anomalía cromosómica X e Y Chromosom Y und X-Anomalie X and Y chromosomal anomaly X and Y chromosomal anomaly hrdo:pat_id_20088 300475 neant Q99.8 263756 group of phenomes Chromosom Xq-Deletion, partielle Deleción parcial del cromosoma Xq Delezione parziale del cromosoma Xp Délétion partielle du chromosome Xq Monosomia parziale del braccio corto del cromosoma X Monosomia parziale del cromosoma Xp Monosomie partielle du chromosome Xq Monosomía parcial del cromosoma Xq Monsomie partielle du bras court du chromosome X Partial deletion of chromosome Xq Partial monosomy of chromosome Xq Partial monosomy of the short arm of chromosome X Partielle Monosomie Xq Partielle Monosomie des langen Arms von Chromosom X Chromosom X, partielle Deletion des langen Arms Deleción parcial del brazo largo del cromosoma X Delezione parziale del braccio lungo del cromosoma X Délétion partielle du bras long du chromosome X Partial deletion of the long arm of chromosome X Partial deletion of the long arm of chromosome X hrdo:pat_id_2009 138930 C537293 neant Q87.5 2097 C1841835 malformation syndrome Grant syndrome Grant-Syndrom Sindrome di Grant Syndrome de Grant Síndrome de Grant Síndrome de Grant hrdo:pat_id_20090 neant Q99.8 263768 group of phenomes Partial trisomy of chromosome X Partielle Trisomie des Chromosom X Trisomia parziale del cromosoma X Trisomie partielle du chromosome X Trisomía parcial del cromosoma X Chromosom X-Duplikation, partielle Duplicación parcial del cromosoma X Duplication partielle du chromosome X Duplicazione parziale del cromosoma X Partial duplication of chromosome X Partial duplication of chromosome X hrdo:pat_id_20091 neant Q99.8 263775 group of phenomes Chromosom Xp-Duplikation, partielle Duplicación parcial del cromosoma Xp Duplication partielle du chromosome Xp Duplicazione parziale del cromosoma Xp Partial duplication of chromosome Xp Partial trisomy of chromosome Xp Partial trisomy of the short arm of chromosome X Partielle Duplikation Xp Partielle Trisomie des kurzen Arms von Chromosom X Trisomia parziale del braccio corto del cromosoma X Trisomia parziale del cromosoma Xp Trisomie partielle du bras court du chromosome X Trisomie partielle du chromosome Xp Trisomía parcial del brazo corto del cromosoma X Trisomía parcial del cromosoma Xp Chromosom X, partielle Duplikation des kurzen Arms Duplicación parcial del brazo corto del cromosoma X Duplication partielle du bras court du chromosome X Duplicazione parziale del braccio corto del cromosoma X Partial duplication of the short arm of chromosome X Partial duplication of the short arm of chromosome X hrdo:pat_id_20092 neant Q99.8 263783 group of phenomes Chromosom Xq-Duplikation, partielle Duplicación parcial del cromosoma Xq Duplication partielle du chromosome Xq Duplicazione parziale del cromosoma Xq Partial duplication of chromosome Xq Partial trisomy of chromosome Xq Partial trisomy of the long arm of chromosome X Partielle Trisomie Xq Partielle Trisomie des langen Arms von Chromosom X Trisomia parziale del braccio lungo del cromosoma X Trisomia parziale del cromosoma Xq Trisomie partielle du bras long du chromosome X Trisomía parcial del brazo largo del cromosoma X Trisomía parcial del cromosoma Xq Chromosom X, partielle Duplikation des langen Arms Duplicación parcial del brazo largo del cromosoma X Duplication partielle du bras long du chromosome X Duplicazione parziale del braccio lungo del cromosoma X Partial duplication of the long arm of chromosome X Partial duplication of the long arm of chromosome X hrdo:pat_id_20093 neant Q99.8 263793 group of phenomes UPD(X) UPD(X) UPD(X) UPD(X) UPDX Disomia uniparentale del cromosoma X Disomie uniparentale du chromosome X Disomía uniparental del cromosoma X Uniparental disomy of chromosome X Uniparental disomy of chromosome X Uniparentale Disomie X hrdo:pat_id_20094 263798 group of phenomes Anomalia del cromosoma Y Anomalie du chromosome Y Anomalía del cromosoma Y Chromosom Y-Anomalie Y chromosomal anomaly Y chromosomal anomaly hrdo:pat_id_20095 neant Q93.5 264200 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 14q22-q23 microdeletion syndrome Del(14)(q22q23) Del(14)(q22q23) Del(14)(q22q23) Del(14)(q22q23) Del(14)(q22q23) Mikrodeletionsyndrom 14q22-q23 Monosomia 14q22-q23 Monosomia 14q22q23 Monosomie 14q22-q23 Monosomie 14q22-q23 Monosomie 14q22q23 Monosomie 14q22q23 Monosomy 14q22-q23 Monosomy 14q22q23 Monosomía 14q22-q23 Monosomía 14q22q23 Sindrome da microdelezione 14q22-q23 Syndrome de microdélétion 14q22-q23 Síndrome de microdeleción 14q22-q23 14q22q23 microdeletion syndrome 14q22q23 microdeletion syndrome Mikrodeletionsyndrom 14q22q23 Sindrome da microdelezione 14q22q23 Syndrome de microdélétion 14q22q23 Síndrome de microdeleción 14q22q23 hrdo:pat_id_20098 264431 group of phenomes Chromosom 1p-Duplikation, partielle Duplicación parcial del cromosoma 1p Duplication partielle du chromosome 1p Duplicazione parziale del cromosoma 1p Partial duplication of chromosome 1p Partial trisomy of chromosome 1p Partial trisomy of the short arm of chromosome 1 Partielle Duplikation 1p Partielle Trisomie des kurzen Arms von Chromosom 1 Trisomia parziale del cromosoma 1p Trisomie partielle du bras court du chromosome 1 Trisomie partielle du chromosome 1p Trisomía parcial del cromosoma 1p Chromosom 1, partielle Duplikation des kurzen Arms Duplicación parcial del brazo corto del cromosoma 1 Duplication partielle du bras court du chromosome 1 Duplicazione parziale del braccio corto del cromosoma 1 Partial duplication of the short arm of chromosome 1 Partial duplication of the short arm of chromosome 1 hrdo:pat_id_201 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 123450 C538482 D003410 10011385 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=cri+du+chat+syndrome Q93.4 281 70173007 C0010314 C2931860 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Cri du chat syndrome Deleción 5p- Deletion 5p Deletion 5p Delezione 5p Délétion 5p Miar do gato, síndrome do Monossomia 5p Sindrome del "Cri du chat" Syndrome du cri du chat Síndrome 'cri-du-chat' Síndrome del maullido de gato Síndrome do miar do gato Cri-du-chat-Syndrom Delecção 5p Monosomia 5p Monosomie 5p Monosomy 5p Monosomía 5p hrdo:pat_id_2010 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 200700 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Acromesomelic+dysplasia+OR+Chondrodysplasia+OR+achondrogenesis+OR+syndrome+OR+dysplasia%29+Grebe%5Btw%5D Q78.8 2098 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Chondrodysplasia, Grebe type Chondrodysplasie Typ Grebe Chondrodysplasie type Grebe Condrodisplasia tipo Grebe Condrodisplasia, tipo Grebe Condrodisplasia, tipo Grebe Acromesomelic dysplasia, Grebe type Displasia acromesomelica, tipo Grebe Displasia acromesomélica tipo Grebe Displasia acromesomélica, tipo Grebe Dysplasie acromésomélique type Grebe Dysplasie, akromesomele, Typ Grebe hrdo:pat_id_20100 neant Q92.2 264450 malformation syndrome Duplicación 8p Duplication 8p Duplication 8p Duplicazione 8p Duplikation 8p Trisomia 8p Trisomie 8p Trisomie 8p Trisomy 8p Trisomy 8p Trisomía 8p hrdo:pat_id_20103 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 306000 613027 neant E74.0 264580 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Enfermedad de almacenamiento de glucógeno tipo 9A Enfermedad de almacenamiento de glucógeno tipo 9C Enfermedad de almacenamiento de glucógeno tipo IXa Enfermedad de almacenamiento de glucógeno tipo IXc GSD Typ 9A GSD Typ 9C GSD Typ IXc GSD da deficit di fosforilasi-chinasi epatica GSD debida a un déficit de fosforilasa quinasa hepática GSD due to liver phosphorylase kinase deficiency GSD durch Leberphosphorylasekinasemangel GSD par déficit en phosphorylase kinase hépatique GSD tipo 9A GSD tipo 9C GSD tipo IXa GSD tipo IXc GSD type 9A GSD type 9A GSD type 9C GSD type 9C GSD type IXa GSD type IXa GSD type IXa GSD type IXc GSD type IXc GSD, tipo 9A GSD, tipo 9C GSD, tipo IXa GSD, tipo IXc Glicogenosi, tipo 9A Glicogenosi, tipo 9C Glicogenosi, tipo IXa Glicogenosi, tipo IXc Glucogenosis debida a un déficit de fosforilasa quinasa hepática Glucogenosis tipo 9A Glucogenosis tipo 9C Glucogenosis tipo IXa Glucogenosis tipo IXc Glycogen storage disease type 9A Glycogen storage disease type 9C Glycogen storage disease type IXa Glycogen storage disease type IXc Glycogenosis due to liver phosphorylase kinase deficiency Glycogenosis type 9A Glycogenosis type 9C Glycogenosis type IXa Glycogenosis type IXc Glycogénose type 9A Glycogénose type 9C Glycogénose type IXa Glycogénose type IXc Glykogen-Speicherkrankheit Typ 9A Glykogen-Speicherkrankheit Typ 9C Glykogen-Speicherkrankheit Typ IXa Glykogen-Speicherkrankheit Typ IXc Glykogenose Typ 9A Glykogenose Typ 9C Glykogenose Typ IXa Glykogenose Typ IXc Glykogenose durch Leberphosphorylasekinasemangel Malattia da deposito di glicogeno da deficit di fosforilasi-chinasi epatica Malattia da deposito di glicogeno, tipo 9A Malattia da deposito di glicogeno, tipo 9C Malattia da deposito di glicogeno, tipo IXa Malattia da deposito di glicogeno, tipo IXc XLG XLG XLG XLG XLG Enfermedad de almacenamiento de glucógeno por déficit de fosforilasa quinasa hepática Glicogenosi da deficit di fosforilasi-chinasi epatica Glycogen storage disease due to liver phosphorylase kinase deficiency Glycogen storage disease due to liver phosphorylase kinase deficiency Glycogénose par déficit en phosphorylase kinase hépatique Glykogenose durch Leberphosphorylasekinasemangel hrdo:pat_id_20104 264656 group of phenomes EPI específica de la infancia ILD der Kindheit ILD specific to childhood ILD specifica dell'infanzia ILD spécifique de l'enfance Enfermedad pulmonar intersticial específica de la infancia Interstitial lung disease specific to childhood Interstitial lung disease specific to childhood Interstitielle Lungenkrankheit, spezifische, der Kindheit Pneumopathie interstitielle spécifique de l'enfance Pneumopatia interstiziale specifica dell'infanzia hrdo:pat_id_20106 264665 group of phenomes EPI primaria específica de la infancia ILD primaire spécifique de l'enfance ILD primitiva specifica dell'infanzia Primary ILD specific to childhood Primäre ILD der Kindheit Enfermedad pulmonar intersticial primaria específica de la infancia Interstitielle Lungenkrankheit, primäre spezifische, der Kindheit Pneumopathie interstitielle primaire spécifique de l'enfance Pneumopatia interstiziale primitiva specifica dell'infanzia Primary interstitial lung disease specific to childhood Primary interstitial lung disease specific to childhood hrdo:pat_id_20107 264670 group of phenomes EPI primaria específica de la infancia debida a un desorden en la estructura alveolar ILD primaire spécifique de l'enfance due à une anomalie de la structure alvéolaire ILD primitiva specifica dell'infanzia da anomalia della struttura alveolare Primary ILD specific to childhood due to alveolar structure disorder Primäre ILD der Kindheit durch alveoläre Strukturanomalien Enfermedad pulmonar intersticial primaria específica de la infancia debida a un desorden en la estructura alveolar Interstitielle Lungenkrankheit durch alveoläre Strukturanomalien, primäre spezifische, der Kindheit Pneumopathie interstitielle primaire spécifique de l'enfance due à une anomalie de la structure alvéolaire Pneumopatia interstiziale primitiva specifica dell'infanzia da anomalia della struttura alveolare Primary interstitial lung disease specific to childhood due to alveolar structure disorder Primary interstitial lung disease specific to childhood due to alveolar structure disorder hrdo:pat_id_20108 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 265120 300770 610913 610921 614370 neant J84.0 264675 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Congenital PAP PAP congenita PAP congénita PAP congénitale PAP, kongenitale Alveolarproteinose, pulmonale kongenitale Congenital pulmonary alveolar proteinosis Congenital pulmonary alveolar proteinosis Proteinosi alveolare polmonare congenita Proteinosis alveolar pulmonar congénita Protéinose alvéolaire pulmonaire congénitale hrdo:pat_id_20109 264683 group of phenomes EPI primaria específica de la infancia debida a un trastorno vascular alveolar ILD primaire spécifique de l'enfance due à une anomalie vasculaire des alvéoles ILD primitiva specifica dell'infanzia da anomalia vascolare degli alveoli Primary ILD specific to childhood due to alveolar vascular disorder Primäre ILD der Kindheit durch alveoläre Vaskulationsstörungen Enfermedad pulmonar intersticial primaria específica de la infancia debida a un trastorno vascular alveolar Interstitielle Lungenkrankheit durch alveoläre Vaskulationsstörungen, primäre spezifische, der Kindheit Pneumopathie interstitielle primaire spécifique de l'enfance due à une anomalie vasculaire des alvéoles Pneumopatia interstiziale primitiva specifica dell'infanzia da anomalia vascolare degli alveoli Primary interstitial lung disease specific to childhood due to alveolar vascular disorder Primary interstitial lung disease specific to childhood due to alveolar vascular disorder hrdo:pat_id_2011 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 175700 C537300 10053878 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Greig%5Btw%5D+OR+cephalopolysyndactyly%29+syndrome Q87.0 380 32985001 C0265306 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cefalopolissindactilia GCPS GCPS GCPS GCPS Greig-Zephalopolysyndaktylie-Syndrom SCPG SCPG Zephalopolysyndaktylie Greig cephalopolysyndactyly syndrome Greig-Syndrom Sindrome da cefalopolisindattilia di Greig Syndrome de céphalopolysyndactylie de Greig Síndrome de Greig Síndrome de cefalopolisindactilia de Greig hrdo:pat_id_20110 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 603523 neant 264688 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Chilotorace congenito Chylothorax congénital Chylothorax, kongenitale Congenital chylothorax Congenital chylothorax Quilotórax congénito hrdo:pat_id_20111 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 264691 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Capilaritis pulmonar aislada Capillarite polmonare isolata Capillarite pulmonaire isolée Chylothorax, isolierte kongenitale Isolated pulmonary capillaritis Isolated pulmonary capillaritis hrdo:pat_id_20112 264694 group of phenomes EPI específica de la niñez ILD des Kleinkindes ILD specific to infancy ILD specifica dell'infanzia ILD spécifique de la petite enfance Enfermedad pulmonar intersticial específica de la niñez Interstitial lung disease specific to infancy Interstitial lung disease specific to infancy Interstitielle Lungenkrankheit, spezifische, des Kleinkindes Pneumopathie interstitielle spécifique de la petite enfance Pneumopatia interstiziale specifica dell'infanzia hrdo:pat_id_20113 264699 group of phenomes EPI secundaria específica de la infancia asociada con una enfermedad sistémica ILD secondaire spécifique de l'enfance associée à une maladie systémique ILD secondaria specifica dell'infanzia associata a malattia sistemica Secondary ILD specific to childhood associated with a systemic disease Sekundäre ILD der Kindheit mit assoziierter systemischer Krankheit Enfermedad intersticial pulmonar secundaria específica de la infancia asociada con una enfermedad sistémica Interstitielle Lungenkrankheit, sekundäre, spezifische, der Kindheit , mit assoziierter systemischer Krankheit Pneumopathie interstitielle secondaire spécifique de l'enfance associée à une maladie systémique Pneumopatia interstiziale secondaria specifica dell'infanzia associata a malattia sistemica Secondary interstitial lung disease specific to childhood associated with a systemic disease Secondary interstitial lung disease specific to childhood associated with a systemic disease hrdo:pat_id_20114 264704 group of phenomes EPI secundaria específica de la infancia asociada con una enfermedad del tejido conectivo ILD secondaire spécifique de l'enfance associée à une maladie du tissu conjonctif ILD secondaria specifica dell'infanzia associata a malattia del tessuto connettivo Secondary ILD specific to childhood associated with a connective tissue disease Sekundäre ILD der Kindheit mit assoziierter Bindewebskrankheit Enfermedad pulmonar intersticial secundaria específica de la infancia asociada con una enfermedad del tejido conectivo Interstitielle Lungenkrankheit, sekundäre, spezifische, der Kindheit , mit assoziierter Bindegewebskrankheit Pneumopathie interstitielle secondaire spécifique de l'enfance associée à une maladie du tissu conjonctif Pneumopatia interstiziale secondaria specifica dell'infanzia associata a malattia del tessuto connettivo Secondary interstitial lung disease specific to childhood associated with a connective tissue disease Secondary interstitial lung disease specific to childhood associated with a connective tissue disease hrdo:pat_id_20115 264709 group of phenomes EPI secundaria específica de la infancia asociada con una vasculitis sistémica ILD secondaire spécifique de l'enfance associée à une vascularite systémique ILD secondaria specifica dell'infanzia associata a vasculite sistemica Secondary ILD specific to childhood associated with a systemic vasculitis Sekundäre ILD der Kindheit mit assoziierter systemischer Vaskulitis Enfermedad pulmonar intersticial secundaria específica de la infancia asociada con una vasculitis sistémica Interstitielle Lungenkrankheit, sekundäre, spezifische, der Kindheit , mit assoziierter systemischer Vaskulitis Pneumopathie interstitielle secondaire spécifique de l'enfance associée à une vascularite systémique Pneumopatia interstiziale secondaria specifica dell'infanzia associata a vasculite sistemica Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis hrdo:pat_id_20116 264714 group of phenomes EPI secundaria específica de la infancia asociada con una enfermedad granulomatosa ILD secondaire spécifique de l'enfance associée à une maladie granulomateuse ILD secondaria specifica dell'infanzia associata a malattia granulomatosa Secondary ILD specific to childhood associated with a granulomatous disease Sekundäre ILD der Kindheit mit assoziierter Granulomatose Enfermedad pulmonar intersticialsecundaria específica de la infancia asociada con una enfermedad granulomatosa Interstitielle Lungenkrankheit, sekundäre, spezifische, der Kindheit , mit assoziierter Granulomatose Pneumopathie interstitielle secondaire spécifique de l'enfance associée à une maladie granulomateuse Pneumopatia interstiziale secondaria specifica dell'infanzia associata a malattia granulomatosa Secondary interstitial lung disease specific to childhood associated with a granulomatous disease Secondary interstitial lung disease specific to childhood associated with a granulomatous disease hrdo:pat_id_20117 264719 group of phenomes EPI secundaria específica de la infancia asociada con una enfermedad metabólica ILD secondaire spécifique de l'enfance associée à une maladie métabolique ILD secondaria specifica dell'infanzia associata a malattia metabolica Secondary ILD specific to childhood associated with a metabolic disease Sekundäre ILD der Kindheit mit assoziierter Stoffwechselkrankheit Enfermedad pulmonar intersticial secundaria específica de la infancia asociada con una enfermedad metabólica Interstitielle Lungenkrankheit, sekundäre, spezifische, der Kindheit , mit assoziierter Stoffwechselkrankheit Pneumopathie interstitielle secondaire spécifique de l'enfance associée à une maladie métabolique Pneumopatia interstiziale secondaria specifica dell'infanzia associata a malattia metabolica Secondary interstitial lung disease specific to childhood associated with a metabolic disease Secondary interstitial lung disease specific to childhood associated with a metabolic disease hrdo:pat_id_20118 264724 group of phenomes Granulomatose à cellules de Langerhans spécifique de l'enfance Granulomatosi a cellule di Langerhans specifica dell'infanzia Granulomatosis de células de Langerhans específica de la infancia Histiocitosis X específica de la infancia Histiocytose X spécifique de l'enfance Histiocytosis X specific to childhood Histiozytose X der Kindheit Istiocitosi X specifica dell'infanzia Langerhans cell granulomatosis specific to childhood Langerhans-Zell-Granulomatose der Kindheit Histiocitosis de células de Langerhans específica de la infancia Histiocytose langerhansienne spécifique de l'enfance Istiocitosi a cellule di Langerhans specifica dell'infanzia Langerhans cell histiocytosis specific to childhood Langerhans cell histiocytosis specific to childhood Langerhans-Zell-Histiozytose der Kindheit hrdo:pat_id_20119 264735 group of phenomes EPI específica de la edad adulta ILD des Erwachsenen ILD specific to adulthood ILD specifica dell'età adulta ILD spécifique de l'adulte Enfermedad pulmonar intersticial específica de la edad adulta Interstitial lung disease specific to adulthood Interstitial lung disease specific to adulthood Interstitielle Lungenkrankheit des Erwachsenen Pneumopathie interstitielle spécifique de l'adulte Pneumopatia interstiale specifica dell'età adulta hrdo:pat_id_2012 neant Q87.5 2099 malformation syndrome Anomalias craniofaciais e ósseas - atraso mental Anomalie cranio-facciali e scheletrice - ritardo mentale Anomalie craniofacciali e scheletriche - ritardo mentale Anomalies craniofaciales et osseuses - déficit intellectuel Anomalías craneo faciales y óseas - déficit intelctual Craniofacial and osseous defects - intellectual deficit Kranio-fazio-ossäre Anomalien - geistige Retardierung Gris-Blankenship-Peterson-Syndrom Grix-Blankenship-Peterson syndrome Sindrome di Grix-Blankenship-Peterson Syndrome de Grix-Blankenship-Peterson Síndrome de Grix-Blankenship-Peterson Síndrome de Grix-Blankenship-Peterson hrdo:pat_id_20120 264740 group of phenomes EPI primaria específica de la edad adulta ILD primaire spécifique de l'adulte ILD primitiva specifica dell'età adulta Primary ILD specific to adulthood Primäre ILD des Erwachsenen Enfermedad pulmonar intersticial primaria específica de la edad adulta Pneumopathie interstitielle primaire spécifique de l'adulte Pneumopatia interstiziale primitiva specifica dell'età adulta Primary interstitial lung disease specific to adulthood Primary interstitial lung disease specific to adulthood Primäre interstitielle Lungenkrankheit des Erwachsenen hrdo:pat_id_20121 264745 group of phenomes EPI secundaria específica de la edad adulta asociada con una enfermedad sistémica ILD secondaire spécifique de l'adulte associée à une maladie systémique ILD secondaria specifica dell'età adulta associata a malattia sistemica Secondary ILD specific to adulthood associated with a systemic disease Sekundäre ILD des Erwachsenen mit assoziierter systemischer Krankheit Enfermedad pulmonar intersticial secundaria específica de la edad adulta Interstitielle Lungenkrankheit, sekundäre, spezifische, des Erwachsenen , mit assoziierter systemischer Krankheit Pneumopathie interstitielle secondaire spécifique de l'adulte associée à une maladie systémique Pneumopatia interstiziale secondaria specifica dell'età adulta associata a malattia sistemica Secondary interstitial lung disease specific to adulthood associated with a systemic disease Secondary interstitial lung disease specific to adulthood associated with a systemic disease hrdo:pat_id_20122 264750 group of phenomes Granulomatose à cellules de Langerhans spécifique de l'adulte Granulomatosi a cellule di Langerhans specifica dell'età adulta Granulomatosis de células de Langerhans específica de la edad adulta Histiocitosis X específica de la edad adulta Histiocytose X spécifique de l'adulte Histiocytosis X specific to adulthood Histiozytose X des Erwachsenen Istiocitosi X specifica dell'età adulta Langerhans cell granulomatosis specific to adulthood Langerhans-Zell-Granulomatose des Erwachsenen Histiocitosis de células de Langerhans específica de la edad adulta Histiocytose langerhansienne spécifique de l'adulte Istiocitosi a cellule di Langerhans specifica dell'età adulta Langerhans cell histiocytosis specific to adulthood Langerhans cell histiocytosis specific to adulthood Langerhans-Zell-Histiozytose des Erwachsenen hrdo:pat_id_20123 264757 group of phenomes EPI en la infancia y en la edad adulta ILD de l'enfance et de l'adulte ILD del'infanzia e dell'età adulta ILD des Kindes und Erwachsenen ILD in childhood and adulthood Enfermedad pulmonar intersticial en la infancia y en la edad adulta Interstitial lung disease in childhood and adulthood Interstitial lung disease in childhood and adulthood Interstitielle Lungenkrankheit des Kindes/Erwachsenen Pneumopathie interstitielle de l'enfance et de l'adulte Pneumopatia interstiziale dell'infanzia e dell'età adulta hrdo:pat_id_20124 264762 group of phenomes EPI primaria en la infancia y en la edad adulta ILD primaire de l'enfance et de l'adulte ILD primitiva dell'infanzia e dell'età adulta Primary ILD in childhood and adulthood Primäre ILD des Kindes/Erwachsenen Enfermedad pulmonar intersticial primaria en la infancia y en la edad adulta Interstitielle Lungenkrankheit, primäre, des Kindes/Erwachsenen Pneumopathie interstitielle primaire de l'enfance et de l'adulte Pneumopatia interstiziale primitiva dell'infanzia e dell'età adulta Primary interstitial lung disease in childhood and adulthood Primary interstitial lung disease in childhood and adulthood hrdo:pat_id_20125 264930 group of phenomes EPI primaria en la infancia y en la edad adulta debida a un desorden en la estructura alveolar ILD primaire de l'enfant et de l'adulte due à une anomalie de la structure alvéolaire ILD primitiva dell'infanzia e dell'età adulta da anomalia della struttura alveolare Primary ILD in childhood and adulthood due to alveolar structure disorder Primäre ILD des Kindes/Erwachsenen durch alveoläre Strukturanomlien Enfermedad pulmonar intersticial primaria en la infancia y en la edad adulta debida a un trastorno de la estructura alveolar Interstitielle Lungenkrankheit, primäre, des Kindes/Erwachsenen durch alveoläre Strukturanomlien Pneumopathie interstitielle primaire de l'enfant et de l'adulte due à une anomalie de la structure alvéolaire Pneumopatia interstiziale primitiva dell'infanzia e dell'età adulta da difetto della struttura alveolare Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder hrdo:pat_id_20126 264935 group of phenomes EPI primaria en la infancia y en la edad adulta debida a un trastorno vascular alveolar ILD primaire de l'enfant et de l'adulte due à une anomalie vasculaire des alvéoles ILD primitiva dell'infanzia e dell'età adulta da anomalia vascolare degli alveoli Primary ILD des Kindes/Erwachsenen durch alveoläre Vaskulationsstörungen Primary ILD in childhood and adulthood due to alveolar vascular disorder Enfermedad pulmonar intersticial primaria en la infancia y en la edad adulta debida a un trastorno vascular alveolar Interstitielle Lungenkrankheit, primäre, des Kindes/Erwachsenen durch alveoläre Vaskulationsstörungen Pneumopathie interstitielle primaire de l'enfant et de l'adulte due à une anomalie vasculaire des alvéoles Pneumopatia interstiziale primitiva dell'infanzia e dell'età adulta da anomalia vascolare degli alveoli Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder hrdo:pat_id_20127 264944 group of phenomes EPI secundaria en la infancia y en la edad adulta ILD secondaire de l'enfance et de l'adulte ILD secondaria dell'infanzia e dell'età adulta Secondary ILD in childhood and adulthood Sekundäre ILD des Kindes/Erwachsenen Enfermedad pulmonar intersticial secundaria en la infancia y en la edad adulta Interstitielle Lungenkrankheit, sekundäre, des Kindes/Erwachsenen Pneumopathie interstitielle secondaire de l'enfance et de l'adulte Pneumopatia interstiziale secondaria dell'infanzia e dell'età adulta Secondary interstitial lung disease in childhood and adulthood Secondary interstitial lung disease in childhood and adulthood hrdo:pat_id_20128 264949 group of phenomes EPI secundaria en la infancia y en la edad adulta asociada con una enfermedad sistémica ILD secondaire de l'enfant et de l'adulte associée à une maladie systémique ILD secondaria dell'infanzia e dell'età adulta associata a malattia sistemica Secondary ILD in childhood and adulthood associated with a systemic disease Sekundäre ILD des Kindes/Erwachsenen mit assoziierter systemischer Krankheit Enfermedad pulmonar intersticial secundaria en la infancia y en la edad adulta asociada con una enfermedad sistémica Interstitielle Lungenkrankheit, sekundäre, des Kindes/Erwachsenen, mit assoziierter systemischer Krankheit Pneumopathie interstitielle secondaire de l'enfant et de l'adulte associée à une maladie systémique Pneumopatia interstiziale secondaria dell'infanzia e dell'età adulta associata a malattia sistemica Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease hrdo:pat_id_20129 264955 group of phenomes Granulomatose à cellules de Langerhans de l'enfant et de l'adulte Granulomatosi a cellule di Langerhans dell'infanzia e dell'età adulta Granulomatosis de células de Langerhans en la infancia y en la edad adulta Histiocitosis X en la infancia y en la edad adulta Histiocytose X de l'enfant et de l'adulte Histiocytosis X in childhood and adulthood Histiozytose X des Kindes und Erwachsenen Istiocitosi X dell'infanzia e dell'età adulta Langerhans cell granulomatosis in childhood and adulthood Langerhans-Zell-Granulomatose des Kindes/Erwachsenen Histiocitosis de células de Langerhans en la infancia y en la edad adulta Histiocytose langerhansienne de l'enfant et de l'adulte Istiocitosi a cellule di Langerhans dell'infanzia e dell'età adulta Langerhans cell histiocytosis in childhood and adulthood Langerhans cell histiocytosis in childhood and adulthood Langerhans-Zell-Histiozytose des Kindes/Erwachsenen hrdo:pat_id_20130 264968 group of phenomes EPI secundaria en la infancia y en la edad adulta asociada con una enfermedad metabólica ILD secondaire de l'enfant et de l'adulte associée à une maladie métabolique ILD secondaria dell'infanzia e dell'età adulta associata a malattia metabolica Secondary ILD in childhood and adulthood associated with a metabolic disease Sekundäre ILD des Kindes/Erwachsenen mit assoziierter Stoffwechselkrankheit Enfermedad pulmonar intersticial secundaria en la infancia y en la edad adulta asociada con una enfermedad metabólica Pneumopathie interstitielle secondaire de l'enfant et de l'adulte associée à une maladie métabolique Pneumopatia interstiziale secondaria dell'infanzia e dell'età adulta associata a malattia metabolica Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease Sekundäre interstitielle Lungenkrankheit des Kindes/Erwachsenen mit assoziierter Stoffwechselkrankheit hrdo:pat_id_20131 264973 group of phenomes EPI secundaria en la infancia y en la edad adulta asociada con una vasculitis sistémica ILD secondaire spécifique de de l'enfant et de l'adulte associée à une vascularite systémique ILD secondaria dell'infanzia e dell'età adulta associata a vasculite sistemica Secondary ILD in childhood and adulthood associated with a systemic vasculitis Sekundäre ILD des Kindes/Erwachsenen mit assoziierter systemischer Vaskultits Enfermedad pulmonar intersticial secundaria en la infancia y en la edad adulta asociaciada con una vasculitis sistémica Pneumopathie interstitielle secondaire de lenfant et de l'adulte associée à une vascularite systémique Pneumopatia interstiziale secondaria dell'infanzia e dell'età adulta associata a vasculite sistemica Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis Sekundäre interstitielle Lungenkrankheit des Kindes/Erwachsenen mit assoziierter systemischer Vaskultits hrdo:pat_id_20132 neant J70 264978 group of phenomes Drug or radiation exposure-related interstitial lung disease Drug or radiation exposure-related interstitial lung disease Enfermedad pulmonar intersticial relacionada con la exposición a fármacos o radiación Interstitielle Lungenkrankheit, Substanz- oder Strahleninduzierte Pneumopathie interstitielle médicamenteuse ou secondaire à une exposition aux radiations Pneumopatia interstiziale da farmaci o esposizione a radiazioni hrdo:pat_id_20133 264984 group of phenomes Enfermedad pulmonar intersticial por exposición Exposure-related interstitial lung disease Exposure-related interstitial lung disease Interstitielle Lungenkrankheit, Strahleninduzierte Pneumopathie interstitielle secondaire liée à l'environnement Pneumopatia interstiziale da fattori ambientali hrdo:pat_id_20134 264992 group of phenomes EPI genética Genetic ILD ILD genetica ILD genética ILD génétique ILD, genetisch bedingte Enfermedad pulmonar intersticial genética Genetic interstitial lung disease Genetic interstitial lung disease Interstitielle Lungenkrankheit, genetisch bedingte Pneumopathie interstitielle génétique Pneumopatia interstiziale genetica hrdo:pat_id_2014 233810 C537621 2101 C2931551 malformation syndrome Atraso do desenvolvimento - hipotonia - hipertrofia das extremidades Developmental delay - hypotonia - extremities hypertrophy Entwicklungsverzögerung - hypotrophe Hypertonie der Extremitäten Retard de développement - hypotonie - hypotrophie des extrémités Retraso de desarrollo - hipotonia - hipotrofia de extremidades Ritardo dello sviluppo - ipotonia - ipotrofia delle estremità Grubben-de Cock-Borghgraef syndrome Grubben-de-Cock-Borghgraef-Syndrom Sindrome di Grubben-de Cock-Borghgraef Syndrome de Grubben-de Cock-Borghgraef Síndrome de Grubben-De Cock-Borghgraef Síndrome de Grubben-de Cock-Borghgraef hrdo:pat_id_2015 neant Q87.8 2104 malformation syndrome Face peculiar - pectus carinatum - laxidez articular Facies particolare - torace carenato - lassità articolare Facies peculiar - pectus carinatum - laxitud en las articulaciones GuizarVazquez-Sanchez-Manzano syndrome GuizarVazquez-Sanchez-Manzano-Syndrom Syndrome de GuizarVazquez-Sanchez-Manzano Dysmorphie - pectus carinatum - laxité ligamentaire Dysmorphien - Pectus carinatum - schlaffe Gelenke Dysmorphism - pectus carinatum - joint laxity Sindrome di Guizar-Vasquez-Sanchez-Manzano Síndrome de Guizar-Vasquez-Sanchez-Manzano Síndrome de Guizar-Vasquez-Sanchez-Manzano hrdo:pat_id_20165 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 268114 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown ALPS Typ 4 ALPS Typ 4 IV ALPS tipo 4 ALPS tipo 4 ALPS tipo IV ALPS tipo IV ALPS type 4 ALPS type 4 ALPS type IV ALPS type IV ALPS, tipo 4 ALPS, tipo IV Autoimmun-lymphoproliferatives Syndrom 4 Autoimmun-lymphoproliferatives Syndrom IV Autoimmune lymphoproliferative syndrome type 4 Autoimmune lymphoproliferative syndrome type IV RALD RALD RALD RALD RALD RALD SLAI type 4 SLAI type IV Sindrome linfoproliferativa autoimmune, tipo 4 Sindrome linfoproliferativa autoimmune, tipo IV Syndrome lymphoprolifératif autoimmun type 4 Syndrome lymphoprolifératif autoimmun type IV Síndrome linfoproliferativo autoimune tipo 4 Síndrome linfoproliferativo autoimune tipo IV Síndrome linfoproliferativo autoinmune tipo 4 Síndrome linfoproliferativo autoinmune tipo IV Doença linfoproliferativa autoimune associada a RAS Enfermedad linfoproliferativa autoinmune asociada a RAS Maladie lymphoproliférative auto-immunne associée à RAS Malattia linfoproliferativa autoimmune associata a RAS RAS-associated autoimmune lymphoproliferative disease RAS-assoziierte autoimmun-lymphoproliferative Krankheit hrdo:pat_id_20166 Variabel Variabile Variable Variable Variable Variable Variável 182920 neant G71.8 268129 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Miopatia a corpi sferoidi Miopatia com corpos esferóides Miopatía por cuerpos esferoides Myopathie à corps sphéroîdes Spheroid body myopathy Spheroid-body-Myopathie hrdo:pat_id_20167 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 268139 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Medulloepitelioma orbitale Medulloepitheliom, orbitales Meduloepitelioma orbital Meduloepitelioma orbitario Médulloépithéliome orbitaire Orbital medulloepithelioma Intraocular medulloepithelioma Medulloepitelioma intraoculare Medulloepitheliom, intraokuläres Meduloepitelioma intraocular Meduloepitelioma intraocular Médulloépithéliome intraoculaire hrdo:pat_id_20168 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 248600 neant E71.0 268145 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown BCKD-Mangel, klassischer Cetoaciduria de cadena ramificada clásica Cetoacidúria de cadeia ramificada, clássica Chetoaciduria classica a catena ramificata Classic BCKD deficiency Classic MSUD Classic branched-chain ketoacid dehydrogenase deficiency Classic branched-chain ketoaciduria Classic leucinosis Cétoacidurie à chaines ramifiées classique Deficit classico della chetoacido deidrogenasi a catena ramificata Deficit classico di BCKD Deficiência de BCKD, clássica Deficiência de desidrogenase dos cetoácidos de cadeias ramificadas, clássica Déficit de BCKD clásica Déficit de deshidrogenasa de cetoácidos de cadena ramificada clásica Déficit en BCKD classique Déficit en céto-acide déshydrogénase classique Enfermedad de la orina con olor a jarabe de arce clásica Leucinose classique Leucinose clássica Leucinose, klassische Leucinosi classica Leucinosis clásica MSUD classica MSUD classique MSUD clásica MSUD clássica MSUD, klassisch Maladie d'urine de sirop d'érable classique Verzweigtketten-Ketonurie, klassische Verzweigtkettige alpha-Ketosäuredehydrogenase-Mangel, klassisch 'Malattia delle urine a ''sciroppo di acero'' classica' Ahornsirup-Krankheit, klassische Classic maple syrup urine disease Doença da urina em xarope de bordo, clássica Enfermedad de jarabe de arce clásica Maladie du sirop d'érable classique hrdo:pat_id_20169 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 248600 615135 neant E71.0 268162 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown BCKD-Mangel, intermediärer Cetoaciduria de cadena ramificada intermedia Cetoacidúria de cadeia ramificada, intermédia Chetoaciduria intermedia a catena ramificata Cétoacidurie à chaines ramifiées intermédiaure Deficit intermedio della chetoacido deidrogenasi a catena ramificata Deficit intermedio di BCKD Deficiência de BCKD, intermédia Deficiência de desidrogenase dos cetoácidos de cadeias ramificadas, intermédia Déficit de BCKD intermedia Déficit de deshidrogenasa de cetoácidos de cadena ramificada intermedia Déficit en BCKD intermédiaire Déficit en céto-acide déshydrogénase intermédiaire Enfermedad de la orina con olor a jarabe de arce intermedia Intermediate BCKD deficiency Intermediate MSUD Intermediate branched-chain ketoacid dehydrogenase deficiency Intermediate branched-chain ketoaciduria Intermediate leucinosis Leucinose intermédia Leucinose intermédiaire Leucinose, intermediäre Leucinosi intermedia Leucinosis intermedia MSUD intermedia MSUD intermedia MSUD intermédia MSUD intermédiaire MSUD, intermediär Maladie d'urine de sirop d'érable intermédiaire Verzweigtketten-Ketonurie, intermediäre Verzweigtkettige alpha-Ketosäuredehydrogenase-Mangel, intermediär 'Malattia delle urine a ''sciroppo di acero'' intermedia' Ahornsirup-Krankheit, intermediäre Doença da urina em xarope de bordo, intermédia Enfermedad de jarabe de arce intermedia Intermediate maple syrup urine disease Maladie du sirop d'érable intermédiaire hrdo:pat_id_20170 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 248600 neant E71.0 268173 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown BCKD-Mangel, intermittierender Cetoaciduria de cadena ramificada intermitente Cetoacidúria de cadeia ramificada, intermitente Chetoaciduria intermittente a catena ramificata Cétoacidurie à chaines ramifiées intermittente Deficit intermittente della chetoacido deidrogenasi a catena ramificata Deficit intermittente di BCKD Deficiência de BCKD, intermitente Deficiência de desidrogenase dos cetoácidos de cadeias ramificadas, intermitente Déficit de BCKD intermitente Déficit de deshidrogenasa de cetoácidos de cadena ramificada intermitente Déficit en BCKD intermittent Déficit en céto-acide déshydrogénase intermittent Enfermedad de la orina con olor a jarabe de arce intermitente Intermittent BCKD deficiency Intermittent MSUD Intermittent branched-chain ketoacid dehydrogenase deficiency Intermittent branched-chain ketoaciduria Intermittent leucinosis Leucinose intermitente Leucinose intermittente Leucinose, intermittierende Leucinosi intermittente Leucinosis intermitente MSUD intermitente MSUD intermitente MSUD intermittente MSUD intermittente MSUD, intermittierend Maladie d'urine de sirop d'érable intermittente Verzweigtketten-Ketonurie, intermittierende Verzweigtkettige alpha-Ketosäuredehydrogenase-Mangel, intermittierend 'Malattia delle urine a ''sciroppo di acero'' intermittente' Ahornsirup-Krankheit, intermittierende Doença da urina em xarope de bordo, intermitente Enfermedad de jarabe de arce intermitente Intermittent maple syrup urine disease Maladie du sirop d'érable intermittente hrdo:pat_id_20171 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 248600 neant E71.0 268184 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown BCKD-Mangel, Thiamin-responsiver Cetoaciduria de cadena ramificada sensible a la tiamina Cetoacidúria de cadeia ramificada, sensível à tiamina Chetoaciduria a catena ramificata tiamina-sensibile Cétoacidurie à chaines ramifiées thiamine-sensible Deficit della chetoacido deidrogenasi a catena ramificata tiamina-sensibile Deficit di BCKD tiamina-sensibile Deficiência de BCKD, sensível à tiamina Deficiência de desidrogenase dos cetoácidos de cadeias ramificadas, sensível à tiamina Déficit de BCKD sensible a la tiamina Déficit de deshidrogenasa de los cetoácidos de cadena ramificada sensible a la tiamina Déficit en BCKD thiamine-sensible Déficit en céto-acide décshydrogénase thiamine-sensible Enfermedad de la orina con olor a jarabe de arce sensible a la tiamina Leucinose sensível à tiamina Leucinose thiamine-sensible Leucinose, Thiamin-responsiv Leucinosi tiamina-sensibile Leucinosis sensible a la tiamina MSUD sensible a la tiamina MSUD thiamine-sensible MSUD tiamina-sensibile MSUD, Thiamin-responsiv MSUD, sensível à tiamina Maladie d'urine de sirop d'érable thiamine-sensible Thiamin-responsive BCKD deficiency Thiamin-responsive MSUD Thiamin-responsive branched-chain ketoacid dehydrogenase deficiency Thiamin-responsive branched-chain ketoaciduria Thiamin-responsive leucinosis Verzweigtketten-Ketonurie, Thiamin-responsiv Verzweigtkettige alpha-Ketosäuredehydrogenase-Mangel, Thiamin-responsiv 'Malattia delle urine a ''sciroppo di acero'' tiamina-sensibile ' Ahornsirup-Krankheit, Thiamin-responsive Doença da urina em xarope de bordo, sensível à tiamina Enfermedad de jarabe de arce sensible a la tiamina Maladie du sirop d'érable thiamine-sensible Thiamin-responsive maple syrup urine disease hrdo:pat_id_20172 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q86.8 268249 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Embriopatia da MMF Embriopatía MMF Embryopathie au MMF MMF embryopathy MMF-Embryopathie Mykophenolat-Mofetil-Embryopathie Embriopatia da micofenolato mofetile Embriopatia por micofenolato de mofetil Embriopatía por micofenolato mofetilo Embryopathie au mycophenolate mofetil Mycophenolat-Mofetil-Embryopathie Mycophenolate mofetil embryopathy hrdo:pat_id_20173 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q93.5 268261 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 21q22.13-q22.2 microdeletion syndrome Del(21)(q22.13q22.2) Del(21)(q22.13q22.2) Del(21)(q22.13q22.2) Del(21)(q22.13q22.2) Del(21)(q22.13q22.2) Del(21)(q22.13q22.2) Mikrodeletionssyndrom 21q22.13-q22.2 Monosomia 21q22.13-q22.2 Monosomia 21q22.13q22.2 Monosomie 21q22.13-q22.2 Monosomie 21q22.13-q22.2 Monosomie 21q22.13q22.2 Monosomie 21q22.13q22.2 Monosomy 21q22.13-q22.2 Monosomy 21q22.13q22.2 Monosomía 21q22.13-q22.2 Monosomía 21q22.13q22.2 Monossomia 21q22.13-q22.2 Monossomia 21q22.13q22.2 Sindrome da microdelezione 21q22.13-q22.2 Syndrome de microdélétion 21q22.13-q22.2 Síndrome de microdeleción 21q22.13-q22.2 Síndrome de microdeleção 21q22.13-q22.2 21q22.13q22.2 microdeletion syndrome Mikrodeletionssyndrom 21q22.13q22.2 Sindrome da microdelezione 21q22.13q22.2 Syndrome de microdélétion 21q22.13q22.2 Síndrome de microdeleción 21q22.13q22.2 Síndrome de microdeleção 21q22.13q22.2 hrdo:pat_id_20175 268316 particular clinical situation in a disease or syndrome 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Complicaciones en hemodiálisis Complication dans l'hémodialyse Complication in hemodialysis Complicazione in emodialisi Estenose e/ou trombose da fístula de hemodiálise Stenose und/oder Thrombose der Fistula in der Hämodialyse hrdo:pat_id_20176 Variabel Variabile Variable Variable Variable Variable Variável neant D69.4 268322 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hereditary thrombocytopenia with normal platelets Thrombocytopénie héréditaire avec plaquettes normales Thrombozytopenie, hereditäre, mit normalen Plättchen Trombocitopenia ereditaria con piastrine normali Trombocitopenia hereditaria con plaquetas normales Trombocitopenia hereditária com plaquetas normais hrdo:pat_id_20179 neant G60.0 268337 group of phenomes RI-CMT RI-CMT RI-CMT RI-CMT RI-CMT RI-CMT Autosomal recessive intermediate Charcot-Marie-Tooth disease Charcot-Marie-Tooth-Krankheit, intermediäre, autosomal-rezessive Doença de Charcot-Marie-Tooth intermédia, autossómica dominante Enfermedad de Charcot-Marie-Tooth intermedia autosómica recesiva Maladie de Charcot-Marie-Tooth intermédiaire autosomique récessive Malattia di Charcot-Marie-Tooth autosomica recessiva hrdo:pat_id_2018 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 234250 neant Q87.0 2107 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hall-Riggs syndrome Hall-Riggs-Syndrom Sindrome di Hall-Riggs Syndrome de Hall-Riggs Síndrome de Hall-Riggs Síndrome de atraso mental de Hall-Riggs hrdo:pat_id_20183 182940 301410 601634 neant 268357 group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Defectos del cierre del tubo neural Defeito do encerramento do tubo neural Difetto di chiusura del tubo neurale Défaut de fermeture du tube neural Neural tube closure defect Verschlussdefekt des Neuralrohrs hrdo:pat_id_20184 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q00.2 268363 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Iniencefalia aberta Iniencefalia abierta Iniencefalia aperta Iniencéphalie ouverte Inienzephalie, offene Open iniencephaly hrdo:pat_id_20185 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q00.2 268366 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Closed iniencephaly Iniencefalia cerrada Iniencefalia chiusa Iniencefalia fechada Iniencéphalie fermée Inienzephalie, geschlossene hrdo:pat_id_20186 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 268369 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Spina bifida aperta Espina bífida abierta Espinha bífida aberta Spina bifida aperta Spina bifida aperta Spina bifida aperta Spina bifida ouverte hrdo:pat_id_20187 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 268377 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Spina bifida aperta complète Espina bífida abierta total Espinha bífida aberta total Spina bifida aperta completa Spina bifida aperta, totale Spina bifida ouverte complète Total spina bifida aperta hrdo:pat_id_20188 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 268384 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Spina bifida aperta thoracolumbosacée Espina bífida abierta toraco-lumbosacra Espinha bífida aberta toracolombosagrada Spina bifida aperta toraco-lombo-sacrale Spina bifida aperta, thorakolumbosakrale Spina bifida ouverte thoracolumbosacrée Thoracolumbosacral spina bifida aperta hrdo:pat_id_20189 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 268388 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Spina bifida aperta lumbosacrée Espina bífida lumbosacra abierta Espinha bífida aberta lombosagrada Lumbosacral spina bifida aperta Spina bifida aperta lombosacrale Spina bifida aperta, lumbosakrale Spina bifida ouverte lumbosacrée hrdo:pat_id_2019 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 234100 neant Q87.0 2108 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Discefálico de François, síndrome Dyskephales-Syndrom, Typ Francois François dyscephalic syndrome Sindrome discefalica di François Syndrome dyscéphalique de François Síndrome discefálico de Francois Síndrome discefálico de François Hallermann-Streiff-François syndrome Hallermann-Streiff-François-Syndrom Sindrome di Hallermann-Streiff-François Syndrome de Hallermann-Streiff-François Síndrome de Hallermann-Streiff-Francois Síndrome de Hallermann-Streiff-François hrdo:pat_id_20190 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 268392 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Spina bifida aperta cervicale Cervical spina bifida aperta Espina bífida abierta cervical Espinha bífida aberta cervical Spina bifida aperta cervicale Spina bifida aperta, zervikale Spina bifida ouverte cervicale hrdo:pat_id_20191 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 268397 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Spina bifida aperta cervicothoracique Cervicothoracic spina bifida aperta Espina bífida abierta cervicotorácica Espinha bífida aberta cervicotorácica Spina bifida aperta cervicotoracica Spina bifida aperta, zervikothorakale Spina bifida ouverte cervicothoracique hrdo:pat_id_20192 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 268740 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Spina bifida aperta thoracique supérieure Espina bífida abierta torácica superior Espinha bífida aberta torácica superior Spina bifida aperta toracica superiore Spina bifida cystica, untere thorakale Spina bifida ouverte thoracique supérieure Upper thoracic spina bifida aperta hrdo:pat_id_20193 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 268744 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Spina bifida cystica Espina bífida quística Espinha bífida quística Spina bifida cistica Spina bifida cystica Spina bifida cystica Spina bifida kystique hrdo:pat_id_20194 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 268748 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Spina bifida cystica complète Espina bífida quística total Espinha bífida quística total Spina bifida cistica completa Spina bifida cystica, totale Spina bifida kystique complète Total spina bifida cystica hrdo:pat_id_20195 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 268752 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Spina bifida cystica thoracolumbosacrée Espina bífida quística toraco-lumbosacra Espinha bífida quística toracolombosagrada Spina bifida cistica toraco-lombo-sacrale Spina bifida cystica, thorakolumbosakrale Spina bifida kystique thoracolumbosacrée Thoracolumbosacral spina bifida cystica hrdo:pat_id_20196 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 268758 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Spina bifida cystica lumbosacrée Espina bífida lumbosacra quística Espinha bífida quística lombosagrada Lumbosacral spina bifida cystica Spina bifida cistica lombosacrale Spina bifida cystica, lumbosakrale Spina bifida kystique lumbosacrée hrdo:pat_id_20197 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 268762 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Spina bifida cystica cervicale Cervical spina bifida cystica Espina bífida quística cervical Espinha bífida quística cervical Spina bifida cistica cervicale Spina bifida cystica, zervikale Spina bifida kystique cervicale hrdo:pat_id_20198 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 268766 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Spina bifida cystica cervicothoracique Cervicothoracic spina bifida cystica Espina bífida quística cervicotorácica Espinha bífida quística cervicotorácica Spina bifida cistica cervicotoracica Spina bifida cystica, zervikothorakale Spina bifida kystique cervicothoracique hrdo:pat_id_20199 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 268770 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Spina bifida cystica thoracique supérieure Espina bífida quística torácica superior Espinha bífida quística torácica superior Spina bifida cistica toracica superiore Spina bifida cystica, obere thorakale Spina bifida kystique thoracique supérieure Upper thoracic spina bifida cystica hrdo:pat_id_202 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 220100 D003555 10011778 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28cystinuria%5Bmh%5D+OR+Cystinuria%5Bti%5D%29+NOT+%28rat%5Btw%5D+OR+rats%5Btw%5D+OR+mouse%5Btw%5D+OR+mice%5Btw%5D%29 E72.0 214 25646005 85020001 C0010691 C0268646 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Cistinuria-lisinuria Cistinúria-lisinúria Cystinuria - lysinuria Cystinurie - lysinurie Cystinurie-Lysinurie Cistinuria Cistinuria Cistinúria Cystinuria Cystinurie Zystinurie hrdo:pat_id_2020 neant Q87.0 2109 malformation syndrome Dennis-Fairhurst-Moore syndrome Dennis-Fairhurst-Moore, síndrome de Dennis-Fairhurst-Moore-Syndrom Hallermam-Streiff-François-Syndrom, schwere Form Hallerman-Streiff-François syndrome, severe form Hallerman-Streiff-like syndrome Hallermann-Streiff-François syndrome, severe form Severe Hallermann-Streiff-François syndrome Sindrome di Dennis-Fairhurst-Moore Sindrome di Hallermam-Streiff-François, forma grave Syndrome d'Hallerman-Streiff-François, forme sévère Syndrome d'Hallermann-Streiff-François, forme sévère Syndrome de Dennis-Fairhurst-Moore Síndrome de Dennis-Fairhurst-Moore Síndrome de Dennis-Fairhurst-Moore Hallermann-Streiff-like syndrome Hallermann-Streiff-ähnliches Syndrom Sindrome Hallermann-Streiff-simile Syndrome de Hallermann-Streiff-like Síndrome Hallermam-Streiff-like Síndrome similar al de Hallermam-Streiff hrdo:pat_id_20203 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q05 268810 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Meningocele posterior Meningocele posteriore Meningocelo posterior Meningozele, posteriore Méningocèle postérieur Posterior meningocele hrdo:pat_id_20204 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q05 268813 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Mielocistocele Mielocistocele Mielocistocelo Myelocystocele Myelozystozele Myélocystocèle hrdo:pat_id_20205 neant Q01 268817 group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cefalocele Cefalocele Cefalocelo Cephalocele Cépahlocèle Zephalozele hrdo:pat_id_20206 neant Q01 268820 morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cranial meningocele Meningocele craneal Meningocele cranico Meningocelo craniano Meningozele, kraniale Méningocèle cranial hrdo:pat_id_20207 neant Q01.2 268823 clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Encefalocele occipital Encefalocele occipitale Encefalocelo occipital Encéphalocèle occipital Enzephalozele, okzipitale Occipital encephalocele hrdo:pat_id_20208 neant Q01.8 268826 clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Encefalocele parietal Encefalocele parietale Encefalocelo parietal Encéphalocèle parietal Enzephalozele, parietale Parietal encephalocele hrdo:pat_id_20209 neant Q01.8 268829 clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Basal encephalocele Encefalocele basal Encefalocele basale Encefalocelo basal Encéphalocèle basal Enzephalozele, basale hrdo:pat_id_2021 234280 neant Q74.2 2110 malformation syndrome Kleiner-Holmes syndrome Kleiner-Holmes, síndrome de Kleiner-Holmes-Syndrom Sindrome di Kleiner Holmes Syndrome de Kleiner-Holmes Síndrome de Kleiner-Holmes Síndrome de Kleiner-Holmes Alluce varo - polisindattilia preassiale Hallux varus - polisindactilia preaxial Hallux varus - polysyndactylie préaxiale Hallux varus - preaxial polysyndactyly Hallux varus e polissindactilia pré-axial Hallux varus mit präaxialer Polysyndaktylie hrdo:pat_id_20210 268832 group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Lipom mit assoziiertem neurospinalen Dysraphismus Lipoma asociado con disrafismo neuroespinal Lipoma associado a disrafismo neuroespinhal Lipoma associated with neurospinal dysraphism Lipoma associato a disrafismo neurospinale Lipome associé à une dysraphie neurospinale hrdo:pat_id_20211 268835 morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Lipomielomeningocele Lipomielomeningocele Lipomielomeningocelo Lipomyelomeningocele Lipomyelomeningozele Lipomyéloméningocèle hrdo:pat_id_20212 268838 morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Leptomielolipoma Leptomielolipoma Leptomielolipoma Leptomyelolipom Leptomyelolipoma Leptomyélolipoma hrdo:pat_id_20214 268843 group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Fehlbildung des Canalis neurentericus, Rückenmarks und Wirbelsäule Malformación del canal neuroentérico, la médula espinal y la columna Malformation du canal neurentérique, de la moêlle épinière et de la colonne Malformation of the neurenteric canal, spinal cord and column Malformazione del canale neuroenterico, del midollo spinale e della colonna Malformação do canal neuroentérico, medula espinhal e coluna hrdo:pat_id_20215 268861 morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Primary tethered spinal cord syndrome Sindrome primitiva del midollo spinale ancorato Síndrome da medula espinhal ancorado, primário Síndrome primario de médula espinal anclada Primary tethered chord syndrome Sindrome primitiva del midollo ancorato Syndrome de la moêlle attachée primaire Síndrome da medula ancorada, primário Síndrome primario de médula anclada Tethered-Cord-Syndrom, primäres hrdo:pat_id_20216 268865 morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cisti neroenterica Kyste neurentérique Neurenteric cyst Quiste neuroentérico Quisto neuroentérico Zyste, neurenterische hrdo:pat_id_20217 neant Q06.0 268868 morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Amielia aislada Amielia isolada Amielia isolata Amyelie, isolierte Amyélie isolée Isolated amyelia hrdo:pat_id_20218 neant G95.0 268871 morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Primary syringomyelia/hydromyelia Siringomielia/hidromielia primaria Siringomielia/hidromielia primária Siringomielia/idromielia primitiva Syringomyelie/Hydromelie, primäre Syringomyélie/hydromyélie primitive hrdo:pat_id_20219 neant Q06.4 268874 clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Congenital hydromyelia Hidromielia congénita Hidromielia congénita Hydromyelie, kongenitale Hydromyélie congénitale Idromielia congenita hrdo:pat_id_2022 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant Q85.8 2111 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Graham-Boyle-Troxell syndrome Graham-Boyle-Troxell, síndrome de Sindrome di Graham-Boyle-Troxell Syndrome de Graham-Boyle-Troxell Síndrome de Graham-Boyle-Troxell Síndrome de Graham-Boyle-Troxell Amartomatosi cistica polmone-rene Cystic hamartoma of lung and kidney Hamartom, zystisches der Lunge und Nieren Hamartoma quístico do pulmão e rim Hamartomatose kystique du poumon et du rein Hamartomatosis quística de pulmón y riñón hrdo:pat_id_20220 118420 neant G95.0 268882 morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Arnold-Chiari malformation type 1 Chiari malformation type 1 Chiari malformation type I Chiari-Malformation Typ 1 Malformación de Arnold-Chiari tipo 1 Malformación de Chiari tipo 1 Malformación de Chiari tipo I Malformation d'Arnold-Chiari type 1 Malformation de Chiari type 1 Malformation de Chiari type I Malformazione di Arnold-Chiari, tipo 1 Malformazione di Chiari, tipo 1 Malformazione di Chiari, tipo I Malformação de Arnold-Chiari, tipo 1 Malformação de Chiari, tipo 1 Malformação de Chiari, tipo I Arnold-Chiari malformation type I Arnold-Chiari-Fehlbildung Typ I Malformación de Arnold-Chiari tipo I Malformation d'Arnold-Chiari type I Malformazione di Arnold-Chiari, tipo I Malformação de Arnold-Chiari, tipo I hrdo:pat_id_20223 neant Q04.5 268920 clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Isolated macrencephaly Macroencefalia aislada Macroencefalia isolada Macroencefalia isolata Macroencéphalie isolée Makrozephalie, isolierte Isolated megalencephaly Megalencefalia aislada Megalencefalia isolada Megalencefalia isolata Megalenzephalie, isolierte Mégalencéphalie isolée hrdo:pat_id_20224 neant Q04.8 268926 group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Midline brain malformation Malformation cérébrale médiane Midline cerebral malformation Midline cerebral malformation Midline cerebral malformation Midline cerebral malformation Midline cerebral malformation hrdo:pat_id_20225 neant Q04.1 268936 morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Arhinencéphalie isolée Arhinenzephalie, isolierte Arinencefalia isolata Arrinencefalia aislada Arrinencefalia isolada Isolated arhinencephaly hrdo:pat_id_20226 neant Q04.3 268940 morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Bilateral polymicrogyria Polimicrogiria bilateral Polimicrogiria bilateral Polimicrogiria bilaterale Polymicrogyrie bilatérale Polymikrogyrie, bilaterale hrdo:pat_id_20227 neant Q04.3 268943 morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Polimicrogiria unilateral Polimicrogiria unilateral Polimicrogiria unilaterale Polymicrogyrie unilatérale Polymikrogyrie, unilaterale Unilateral polymicrogyria hrdo:pat_id_20228 neant Q04.3 268947 clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Polimicrogiria focal unilateral Polimicrogiria focale unilaterale Polimicrogiria unilateral focal Polymicrogyrie unilatérale focale Polymikrogyrie, fokale unilaterale Unilateral focal polymicrogyria hrdo:pat_id_20229 neant Q04.8 268950 group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Brain cortical dysplasia Displasia cortical del cerebro Displasia cortical do cérebro Displasia corticale del cervello Kortikale Dysplasie des Gehirns Cerebral cortical dysplasia Displasia cortical cerebral Displasia cortical cerebral Displasia corticale cerebrale Dysplasie corticale cérébrale Dysplasie, kortikale zerebrale hrdo:pat_id_2023 C537071 2112 C2931413 malformation syndrome Amartoma follicolare - alopecia - mucoviscidosi Follicular hamartoma - alopecia - cystic fibrosis Hamartom, follikuläres - Alopezie - zystische Fibrose Hamartoma folicular - alopecia - fibrose quística Hamartoma folicular - alopecia - mucoviscidosis Hamartome folliculaire - alopécie - mucoviscidose hrdo:pat_id_20231 neant Q04.8 268961 clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown FCD Typ I FCD tipo I FCD tipo I FCD type I FCD type I FCD, tipo I Displasia cortical focal aislada tipo I Displasia cortical focal isolada tipo I Displasia corticale focale isolata, tipo I Dysplasie corticale focale isolée type I Isolated focal cortical dysplasia type I Kortikale Dysplasie, fokale isolierte, Typ I hrdo:pat_id_20233 neant Q04.8 268973 histopathological subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown FCD Typ Ia FCD tipo Ia FCD tipo Ia FCD type Ia FCD type Ia FCD, tipo Ia Displasia cortical focal aislada tipo Ia Displasia cortical focal isolada tipo Ia Displasia corticale focale isolata, tipo Ia Dysplasie corticale focale isolée type Ia Isolated focal cortical dysplasia type Ia Kortikale Dysplasie, fokale isolierte, Typ Ia hrdo:pat_id_20234 neant Q04.8 268980 histopathological subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown FCD Typ Ib FCD tipo Ib FCD tipo Ib FCD type Ib FCD type Ib FCD, tipo Ib Displasia cortical focal aislada tipo Ib Displasia cortical focal isolada tipo Ib Displasia corticale focale isolata, tipo Ib Dysplasie corticale focale isolée type Ib Isolated focal cortical dysplasia type Ib Kortikale Dysplasie, fokale isolierte, Typ Ib hrdo:pat_id_20235 neant Q04.8 268987 histopathological subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown FCD Typ Ic FCD tipo Ic FCD tipo Ic FCD type Ic FCD type Ic FCD, tipo Ic Displasia cortical focal aislada tipo Ic Displasia cortical focal isolada tipo Ic Displasia corticale focale isolata, tipo Ic Dysplasie corticale focale isolée type Ic Isolated focal cortical dysplasia type Ic Kortikale Dysplasie, fokale isolierte, Typ Ic hrdo:pat_id_20236 neant Q04.8 268994 clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown FCD Typ II FCD tipo II FCD tipo II FCD type II FCD type II FCD, tipo II Displasia cortical focal aislada tipo II Displasia cortical focal isolada tipo II Displasia corticale focale isolata, tipo II Dysplasie corticale focale isolée type II Isolated focal cortical dysplasia type II Kortikale Dysplasie, fokale isolierte, Typ II hrdo:pat_id_20237 neant Q04.8 269001 histopathological subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown FCD Typ IIa FCD tipo IIa FCD tipo IIa FCD type IIa FCD type IIa FCD, tipo IIa Displasia cortical focal aislada tipo IIa Displasia cortical focal isolada tipo IIa Displasia corticale focale isolata, tipo IIa Dysplasie corticale focale isolée type IIa Isolated focal cortical dysplasia type IIa Kortikale Dysplasie, fokale isolierte, Typ IIa hrdo:pat_id_20238 neant Q04.8 269008 histopathological subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown FCD Typ IIb FCD tipo IIb FCD tipo IIb FCD type IIb FCD type IIb FCD, tipo IIb Displasia cortical focal aislada tipo IIb Displasia cortical focal isolada tipo IIb Displasia corticale focale isolata, tipo IIb Dysplasie corticale focale isolée type IIb Isolated focal cortical dysplasia type IIb Kortikale Dysplasie, fokale isolierte, Typ IIb hrdo:pat_id_20239 269190 group of phenomes Alteraciones encefaloclásticas Anomalie secondaire à une destruction cérébrale Disturbo encefaloclastico Doença encefaloclástica Encephaloclastic disorder Enzephaloklastische Störung hrdo:pat_id_2024 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 142669 Q65.8 2114 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 BFHD Beukes familial hip dysplasia Cilliers-Beighton syndrome Cilliers-Beighton, síndrome de Cilliers-Beighton-Syndrom Dysplasie familiale de la hanche type Beukes Ostéoarthropathie dégénérative précoce de la hanche Premature degenerative osteoarthropathy of the hip Sindrome di Cilliers-Beighton Syndrome de Cilliers-Beighton Síndrome de Cilliers-Beighton Síndrome de Cilliers-Beighton Displasia da anca, tipo Beukes Displasia de cadera tipo Beukes Displasia delle anche, tipo Beukes Dysplasie de la hanche type Beukes Hip dysplasia, Beukes type Hüftdysplasie Typ Beukes hrdo:pat_id_20240 269194 group of phenomes Central nervous system cystic malformation Malformación quística del sistema nervioso central Malformation kystique du système nerveux central Malformazione cistica del sistema nervoso centrale Malformação quística do sistema nervoso central Zystische Fehlbildung des ZNS hrdo:pat_id_20241 269197 morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cisti glioependimale/ependimale Glioependymal/ependymal cyst Glioependymale/ependymale Zyste Kyste glioépendymaire/épendymaire Quiste glioependimario/ependimario Quisto glioependimário/ependimário hrdo:pat_id_20242 269200 morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cisti retrocerebellare Kyste rétrocérébelleux Quiste retrocerebeloso Quisto retrocerebeloso Retrocerebellar cyst Retrozerebelläre Zyste hrdo:pat_id_20243 neant Q04.3 269203 morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Vermis cerebelli, isolierte Aplasie Agenesia aislada del vermis cerebeloso Agenesia do vermis cerebeloso, isolada Agenesia isolata del verme cerebellare Agénésie isolée du vermis cérébelleux Isolated cerebellar vermis agenesis Isolierte Dysplasie des Kleinhirnwurmes hrdo:pat_id_20244 neant Q04.3 269206 clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Vermis cerebelli, isolierte totale Aplasie Agenesia aislada total del vermis cerebeloso Agenesia completa isolata del verme cerebellare Agenesia total do vermis cerebeloso, isolada Agénésie isolée complète du vermis cérébelleux Isolated total cerebellar vermis agenesis Isolierte totale Aplasie des Kleinhirnwurmes hrdo:pat_id_20245 neant Q04.3 269209 clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Agenesia aislada parcial del vermis cerebeloso Agenesia parcial do vermis cerebeloso, isolada Agenesia parziale isolata del verme cerebellare Agénésie isolée partielle du vermis cérébelleux Isolated partial cerebellar vermis agenesis Vermis cerebelli, isolierte partielle Aplasie hrdo:pat_id_20246 neant Q03.1 269212 clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Dandy-Walker-Fehlbildung, isolierte, mit Hydrozephalus Isolated Dandy-Walker malformation with hydrocephalus Malformación de Dandy-Walker aislada con hidrocefalia Malformation de Dandy-Walker isolée avec hydrocéphalie Malformazione isolata di Dandy-Walker con idrocefalo Malformação de Dandy-Walker isolada com hidrocefalia hrdo:pat_id_20247 neant Q03.1 269215 clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Dandy-Walker-Fehlbildung, isolierte, ohne Hydrozephalus Isolated Dandy-Walker malformation without hydrocephalus Malformación de Dandy-Walker aislada sin hidrocefalia Malformation de Dandy-Walker isolée sans hydrocéphalie Malformazione isolata di Dandy-Walker senza idrocefalo Malformação de Dandy-Walker isolada sem hidrocefalia hrdo:pat_id_20248 neant Q04.3 269218 morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hipoplasia aislada unilateral de los hemisferios cerebelosos Hipoplasia isolada unilateral dos hemisférios cerebelares Hypoplasie isolée unilatérale des hémisphères cérébelleux Ipoplasia cerebellare emisferica unilaterale isolata Isolated unilateral hemispheric cerebellar hypoplasia Zerebelläre hemisphärische Hypoplasie, isoliert unilaterale hrdo:pat_id_20249 neant Q04.3 269221 morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hipoplasia aislada bilateral de los hemisferios cerebelosos Hipoplasia isolada bilateral dos hemisférios cerebelares Hypoplasie isolée bilatérale des hémisphères cérébelleux Ipoplasia cerebellare emisferica bilaterale isolata Isolated bilateral hemispheric cerebellar hypoplasia Zerebelläre hemisphärische Hypoplasie, isoliert bilaterale hrdo:pat_id_2025 601095 neant Q87.0 2115 malformation syndrome Cranio-facio-digito-genital syndrome Kranio-fazio-digito-genitales Syndrom Sindrome cranio-facio-digito-genitale Syndrome cranio-facio-digito-génital Síndrome cráneo-facio-digito-genital Harrod syndrome Harrod-Syndrom Sindrome di Harrod Syndrome de Harrod Síndrome de Harrod Síndrome de Harrod hrdo:pat_id_20250 neant 269224 group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Diffuse cerebellar malformation Malformación difusa del cerebelo Malformation cérébelleuse diffuse Malformazione cerebellare diffusa Malformação cerebelar difusa Zerebelläre Fehlbildung, diffuse Global cerebellar malformation Malformación global del cerebelo Malformation cérébelleuse globale Malformazione cerebellare globale Malformação cerebelar global Zerebelläre Fehlbildung, globale hrdo:pat_id_20251 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614688 neant Q04.8 269229 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 PTCD PTCD PTCD PTCD PTCD PTCD Displasia del tegmento pontino Displasia del tegmento pontino Displasia do tegumento da ponte Dysplasie du tegmentum pontique Pontine Tegmentale Capdysplasie Pontine tegmental cap dysplasia hrdo:pat_id_20252 neant Q03.8 269505 clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Congenital non-obstructive hydrocephalus Hidrocefalia no obstructiva congénita Hidrocefalia não-obstrutiva congénita Hydrocéphalie congénitale non obstructive Hydrozephalus, nichtobstruktiver, kongenitaler Idrocefalo non ostruttivo congenito Congenital communicating hydrocephalus Hidrocefalia comunicante congénita Hidrocefalia comunicante congénita Hydrocéphalie congénitale communicante Hydrozephalus, kommunizierender, kongenitaler Idrocefalo comunicante congenito hrdo:pat_id_20253 neant Q03.1 Q03.2 Q03.8 269510 clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Congenital obstructive hydrocephalus Hidrocefalia obstructiva congénita Hidrocefalia obstrutiva congénita Hydrocéphalie congénitale obstructive Hydrozephalus, obstruktiver, kongenitaler Idrocefalo ostruttivo congenito Congenital non-communicating hydrocephalus Hidrocefalia no comunicante congénita Hidrocefalia não-comunicante congénita Hydrocéphalie congénitale non communicante Hydrozephalus, nicht-kommunizierender, kongenitaler Idrocefalo non comunicante congenito hrdo:pat_id_20254 269523 group of phenomes Sindrome con malformazione cerebellare come segno cardinale Syndrom mit zerebellärer Fehlbildung als Hauptmerkmal Syndrome avec malformation du cervelet comme manifestation majeure Syndrome with a cerebellar malformation as major feature Síndrome com uma malformação cerebelar como anomalia major Síndrome con una malformación del cerebelo como característica principal hrdo:pat_id_20255 neant Q02 269528 group of phenomes Sindrome con microcefalia come segno cardinale Syndrome avec microcéphalie comme manifestation majeure Syndrome mit Mikrozephalie als Hauptmerkmal Syndrome with microcephaly as major feature Síndrome com microcefalia como anomalia major Síndrome con microcefalia como característica principal hrdo:pat_id_20256 269531 group of phenomes Altra sindrome con malformazione del sistema nervoso centrale come segno cardinale Autre syndrome avec malformation du système nerveux central comme manifestation majeure Other syndrome with a central nervous system malformation as major feature Otro síndrome con una malformación del sistema nervioso central como característica principal Outro síndrome com uma malformação do sistema nervoso central como anomalia major Sonstiges Syndrom mit ZNS-Fehlbildung als Hauptmerkmal hrdo:pat_id_20258 269546 group of phenomes Sindrome con malformazione di Dandy-Walker come segno cardinale Syndrom mit Dandy-Walker-Fehlbildung als Hauptmerkmal Syndrome avec une malformation de Dandy-Walker comme manifestation majeure Syndrome with a Dandy-Walker malformation as major feature Síndrome com uma malformação de Dandy-Walker como anomalia major Síndrome con una malformación de Dandy-Walker como característica principal hrdo:pat_id_20259 269550 group of phenomes Genetic nonsyndromic central nervous system malformation Malformación genética no sindrómica del sistema nervioso central Malformation non syndromique génétique du système nerveux central Malformazione non sindromica genetica del sistema nervoso centrale Malformação não sindrómica do sistema nervoso central, genética ZNS-Fehlbildung, nichtsyndromale, genetisch-bedingte hrdo:pat_id_2026 300571 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=holoprosencephaly+ectrodactyly+cleft+lip+palate 2117 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Holoprosencefalia - ectrodactilia - fenda lábio-palatina Holoprosencefalia - ectrodactilia - fisura labiopalatina Holoprosencephaly - ectrodactyly - cleft lip palate Holoprosencéphalie - ectrodactylie - fente labiopalatine Holoprosenzephalie - Ektrodaktylie - Lippen-Kiefer-Gaumenspalte Oloprosencefalia - ectrodattilia - schisi labiopalatina Hartsfield-Bixler-Demyer syndrome Hartsfield-Bixler-Demyer-Syndrom Sindrome di Hartsfield-Bixler-Demyer Syndrome de Hartsfield-Bixler-Demyer Síndrome de Hartsfield-Bixler-Demyer Síndrome de Hartsfield-Bixler-Demyer hrdo:pat_id_20260 269553 group of phenomes Genetic brain malformation Hirnfehlbildung, genetisch bedingte Malformación genética del cerebro Malformazione genetica del cervello Malformação do cérebro, genética Genetic cerebral malformation Malformación genética cerebral Malformation cérébrale génétique Malformazione cerebrale genetica Malformação cerebral genética Zerebrale Fehlbildung, genetisch bedingte hrdo:pat_id_20261 269557 group of phenomes Fehlbildung des Fossa cranii posterior, genetisch bedingte Genetic posterior fossa malformation Malformación genética de la fosa posterior Malformation génétique de la fosse postérieure Malformazione genetica della fossa posteriore Malformação da fossa posterior genética hrdo:pat_id_20262 269560 group of phenomes Malformation cérébelleuse génétique Genetic cerebellar malformation Malformación genética del cerebelo Malformation génétique du cervelet Malformazione cerebellare genetica Malformação cerebelar genética Zerebelläre Fehlbildung, genetisch bedingte hrdo:pat_id_20263 269564 group of phenomes Genetic syndrome with a central nervous system malformation as major feature Genetisch bedingtes Syndrom mit ZNS-Fehlbildung als Hauptmerkmal Sindrome genetica con malformazione del sistema nervoso centrale come segno cardinale Syndrome génétique avec malformation du système nerveux central comme manifestation majeure Síndrome genético com uma malformação do sistema nervoso central como anomalia major Síndrome genético con una malformación del sistema nervioso central como característica principal hrdo:pat_id_20264 269567 group of phenomes Genetic syndrome with a cerebellar malformation as major feature Genetisch bedingtes Syndrom mit zerebellärer Fehlbildung als Hauptmerkmal Sindrome genetica con malformazione cerebellare come segno cardinale Syndrome génétique avec malformation du cervelet comme manifestation majeure Síndrome genético com uma malformação cerebelar como anomalia major Síndrome genético con una malformación del cerebelo como característica principal hrdo:pat_id_20265 269570 group of phenomes Genetic syndrome with a Dandy-Walker malformation as major feature Genetisch bedingtes Syndrom mit Dandy-Walker-Fehlbildung als Hauptmerkmal Sindrome genetica con malformazione di Dandy-Walker come segno cardinale Syndrome génétique avec une malformation de Dandy-Walker comme manifestation majeure Síndrome genético com uma malformação de Dandy-Walker como anomalia major Síndrome genético con una malformación de Dandy-Walker como característica principal hrdo:pat_id_20266 269573 group of phenomes Genetic syndrome with corpus callosum agenesis /dysgenesis as a major feature Genetisch bedingtes Syndrom mit Corpus callosum-Agenesie/Dysgenesie als Hauptmerkmal Sindrome genetica con agenesia/disgenesia del corpo calloso come segno cardinale Syndrome génétique avec une agénésie/dysgénésie du corps calleux comme manifastation majeure Síndrome genético com agenesia/disgenesia do corpo caloso como anomalia major Síndrome genético con agenesia/disgenesia del cuerpo calloso como característica principal hrdo:pat_id_2027 177980 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Pterygia+mental+retardation+facial+dysmorphism%29+OR+%28Haspeslagh+syndrome%5BTitle/Abstract%5D%29 Q87.8 2994 malformation syndrome Haspelagh-Fryns-Muelenaere-Syndrom Haspeslagh-Fryns-Muelenaere syndrome Haspeslagh-Fryns-Muelenaere, síndrome de Syndrome d'Haspeslagh-Fryns-Muelenaere Síndrome de Haspeslagh-Fryns-Muelenaere Bassa statura - difetti craniofacciali - ipoplasia dei genitali Estatura baja - anomalías craneofaciales - hipoplasia genital Kleinwuchs - kraniofaziale Anomalien - Genitalhypoplasie Petite taille - anomalies craniofaciales - hypoplasie génitale Pterigios - atraso mental - dismorfia facial Short stature - craniofacial anomalies - genital hypoplasia hrdo:pat_id_2028 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 600559 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hydrocephalus+endocardial+fibroelastosis+cataract Q87.8 2119 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hidrocefalia - fibroelastose endocárdica - cataratas Hidrocefalia - fibroelastosis - cataratas Hydrocephalus - endocardial fibroelastosis - cataract Hydrocéphalie - fibroélastoses - cataracte Hydrozephalus - Endokard-Fibroelastose - Katarakt   Idrocefalo - fibroelastosi - cataratta HEC syndrome HEC-Syndrom Sindrome HEC Syndrome HEC Síndrome HEC Síndrome HEC hrdo:pat_id_2029 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Heckenlively%5B1au%5D+cataract+myopia 2120 malformation syndrome Heckenlively syndrome Heckenlively-Syndrom Sindrome di Heckenlively Syndrome de Heckenlively Síndrome de Heckenlively Síndrome de Heckenlively hrdo:pat_id_203 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 264300 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%2817%5Bti%5D+hydroxysteroid+dehydrog*%5Bti%5D+deficiency%29+OR+17+hydroxysteroid+dehydrogenases/df E29.1 752 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 17 ketoreductase deficiency 17 ketosteroidreductase deficiency 17-Keto-Reduktase-Mangel 17-Ketosteroid-Reduktase-Mangel 17-beta-Hydroxysteroid-Dehydrogenase 3-Mangel 17-beta-hydroxysteroid dehydrogenase 3 deficiency Deficit di 17-beta-idrossisteroido deidrogenasi, tipo 3 Deficit di 17-cheto reduttasi Deficit di 17-cheto-steroido reduttasi Déficit de 17-beta-hidroxiesteroide deshidrogenasa Déficit en 17-bêta-hydroxystéroïde déshydrogénase 3 Déficit en 17-cétoréductase Déficit en 17-cétostéroïderéductase Male pseudohermaphroditism due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency Pseudo-hermafroditismo masculino por deficiência de 17-beta-hidroxiesteróide desidrogenase Pseudoermafroditismo maschile da deficit di 17 beta-idrossisteroido deidrogenasi, tipo 3 Pseudohermafroditismo masculino por déficit de 17-beta-hidroxiesteroide deshidrogenasa Pseudohermaphrodisme masculin par déficit en 17-bêta-hydroxystéroïde déshydrogénase 3 Pseudohermaphroditismus, männlicher, durch 17-beta-Hydroxysteroid-Dehydrogenase 3-Mangel 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency Anomalie du développement sexuel 46,XY due à déficit en 17-bêta-hydroxystéroïde déshydrogénase 3 Deficiência de 17-beta-hidroxiesteróide desidrogenase Disturbi dello sviluppo sessuale 46,XY da deficit di 17-beta-idrossisteroido deidrogenasi, tipo 3 Störung der Geschlechtsentwicklung 46,XY, durch 17-beta-Hydroxysteroid-Dehydrogenase 3-Mangel Trastornos del desarrollo sexual con cariotipo 46,XY por déficit de 17-beta-hidroxiesteroide deshidrogenasa hrdo:pat_id_2030 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant D18.0 2123 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Diffuse neonatal hemangiomatosis Emangiomatosi neonatale diffusa Hemangiomatose difusa neonatal Hemangiomatosis neonatal difusa Hämangiomatose, diffuse neonatale Hémangiomatose néonatale diffuse hrdo:pat_id_20300 271832 group of phenomes Genetic mesenchymal tumor Tumeur des parties molles d'origine génétique Tumeur mésenchymateuse d'origine génétique Tumor mesenquimal genético Tumor, mesenchymaler, genetisch bedingter Tumore mesenchimale genetico Genetic soft tissue tumor Tumeur des tissus mous d'origine génétique Tumor de tejidos blandos de origen genético Tumor dos tecidos moles, genético Tumore dei tessuti molli genetico Weichteiltumor, genetisch bedingter hrdo:pat_id_20301 271835 group of phenomes Genetic digestive tract tumor Tumeur génétique du tube digestif Tumor del tracto digestivo de origen genético Tumor des Verdauungstraktes, genetisch bedingter Tumor do sistema digestivo, genético Tumore genetico del tratto digestivo hrdo:pat_id_20303 271841 group of phenomes Genetic cardiac tumor Herztumor, genetisch bedingter Tumeur cardiaque génétique Tumor cardíaco de origen genético Tumor cardíaco, genético Tumore cardiaco genetico hrdo:pat_id_20304 271844 group of phenomes Genetic urogenital tumor Tumeur urogénitale génétique Tumor urogenital de origen genético Tumor urogenital, genético Tumore urogenitale genetico Urogenitaler Tumor, genetisch bedingter hrdo:pat_id_20305 271847 group of phenomes Genetic endocrine tumor Tumeur endocrine génétique Tumor endocrino de origen genético Tumor endócrino, genético Tumor, endokriner, genetisch bedingter Tumore endocrino genetico hrdo:pat_id_20306 271853 group of phenomes Anomalia cardíaca, genética Anomalie cardiaque d'origine génétique Anomalía cardíaca de origen genético Cardiopatia genetica Genetic cardiac anomaly Herzanomalie, genetisch bedingte hrdo:pat_id_20307 neant E85.1 271861 group of phenomes Amiloidose relacionada com TTR Amiloidosi da TTR Amiloidosis relacionada con TTR Amylose de la TTR familiale Familial TTR-related amyloidosis TTR-bedingte Amyloidose Amiloidose relacionada com transtirretina Amiloidosi da transtiretina Amiloidosis relacionada con transtiretina Amyloidose, Transthyretin-assoziierte Amylose de la transthyrétine familiale Familial transthyretin-related amyloidosis hrdo:pat_id_20308 271870 group of phenomes Doença genética sistémica Enfermedades raras genéticas sistémicas Genetische bedingte Krankheit, systemische Maladie systémique ou rhumatologique rare d'origine génétique Malattia sistemica genetica rara Rare genetic systemic or rheumatologic disease hrdo:pat_id_2031 140850 neant D18.0 2124 234140000 malformation syndrome Cavernous hemangiomas of face - supraumbilical midline raphe Emangiomi facciali - pseudocicatrice sopraombelicale Haemangioma cavernosum des Gesichts - supraumbilikale Mittellinien-Raphe Hemangioma cavernoso da face - rafe mediano supra-umbilical Hemangiomas faciales - pseudo cicatriz supraumbilical Hémangiomes faciaux - pseudocicatrice sus-ombilicale hrdo:pat_id_20314 neant 275511 group of phenomes ALPS-related syndrome ALPS-verwandtes-Syndrom Maladie apparentée au SLAI Maladie apparentée au syndrome lymphoprolifératif avec auto-immunité Maladie apparentée à ALPS Sindrome associata a ALPS Síndrome relacionado con el SLPA Autoimmun-lymphoproliferatives Syndrom-verwandte Krankheit Autoimmune lymphoproliferative syndrome-related disorder Autoimmune lymphoproliferative syndrome-related disorder Disturbo associato alla sindrome linfoproliferativa autoimmune Maladie apparentée au syndrome lymphoprolifératif auto-immun Trastorno relacionado con el síndrome linfoproliferativo autoinmune hrdo:pat_id_20315 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 607271 neant 275517 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown ALPS avec infections récurrentes ALPS con infezioni ricorrenti ALPS mit rekurrenten Infektionen ALPS with recurrent infections SLAI avec infections récurrentes SLPA con infecciones recurrentes Syndrome lymphoprolifératif avec auto-immunité avec infections récurrentes Autoimmun-lymphoproliferatives Syndrom mit rekurrenten Infektionen Autoimmune lymphoproliferative syndrome with recurrent infections Autoimmune lymphoproliferative syndrome with recurrent infections Sindrome linfoproliferativa autoimmune con infezioni ricorrenti Syndrome lymphoprolifératif auto-immun avec infections récurrentes Síndrome linfoproliferativo autoinmune con infecciones recurrentes hrdo:pat_id_20316 605233 neant 275523 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown DALD DALD DALD DALD DALD Autoimmun-lymphoproliferative Krankheit vom Typ Dianzani Dianzani autoimmune lymphoproliferative disease Dianzani autoimmune lymphoproliferative disease Enfermedad linfoproliferativa autoinmune de Dianzani Maladie lymphoproliférative auto-immune de Dianzani Malattia linfoproliferativa autoimmune di Dianzani hrdo:pat_id_20317 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614160 neant 275534 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo particular clinical situation in a disease or syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hipertrofia muscular relacionada con la miostatina Hypertrophie musculaire liée à la myostatine Ipertrofia muscolare associata alla miostatina Muskelhypertrophie, Myostatin-abhängige Myostatin-related muscle hypertrophy Myostatin-related muscle hypertrophy hrdo:pat_id_20318 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 303350 304100 307000 neant Q04.8 275543 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CRASH syndrome CRASH-Syndrom Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome L1CAM syndrome Sindrome CRASH Sindrome L1CAM Sindrome ipoplasia del corpo calloso-ritardo-pollici addotti-spasticità-idrocefalo Syndrome CRASH Syndrome L1CAM Síndrome CRASH Síndrome L1CAM Síndrome de hipoplasia del cuerpo calloso - retraso - pulgares en aducción - espasticidad - hidrocefalia L1 syndrome L1 syndrome L1-Syndrom Sindrome L1 Syndrome L1 Síndrome L1 hrdo:pat_id_20319 189800 609402 609403 609404 614595 neant O11 O14 275555 disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Schwangerschaftstoxikose Pre-eclampsia Pre-eclampsia Pre-eclampsia Preeclampsia Präeklampsie Pré-éclampsie hrdo:pat_id_20320 275729 group of phenomes Coagulopathie rare par thrombocytopénie constitutionnelle Coagulopatia rara da trombocitopenia costituzionale Coagulopatía rara debida a una trombocitopenia constitucional Rare bleeding disorder due to a constitutional thrombocytopenia Rare coagulopathy due to a constitutional thrombocytopenia Seltene Blutungsstörung durch konstitutionelle Thrombozytopenie Trastorno de la coagulación raro debido a una trombocitopenia constitucional Disturbo emorragico raro da trombocitopenia costituzionale Enfermedad hemorrágica rara debida a una trombocitopenia constitucional Maladie hémorragique rare par thrombocytopénie constitutionnelle Rare hemorrhagic disorder due to a constitutional thrombocytopenia Rare hemorrhagic disorder due to a constitutional thrombocytopenia Seltene Blutgerinnungsstörung durch konstitutionelle Thrombozytopenie hrdo:pat_id_20321 neant D69.8 275736 group of phenomes Coagulopathie rare par anomalie des récepteurs plaquettaires Coagulopatia rara da difetto dei recettori piastrinici Coagulopatía rara debida a defectos en los receptores plaquetarios Rare bleeding disorder due to a platelets receptors defect Rare coagulopathy due to a platelets receptors defect Seltene Blutungsstörung durch Rezeptor-Defekt der Blutplättchen Trastorno raro de la coagulación debido a defectos en los receptores plaquetarios Disturbo emorragico raro da difetto dei recettori piastrinici Enfermedad hemorrágica rara debida a defectos en los receptores plaquetarios Maladie hémorragique rare par anomalie des récepteurs plaquettaires Rare hemorrhagic disorder due to a platelets receptors defect Rare hemorrhagic disorder due to a platelets receptors defect Seltene Blutgerinnungsstörung durch Rezeptor-Defekt der Blutplättchen hrdo:pat_id_20322 275742 group of phenomes Genetic infertility Genetic infertility Infertilidad genética Infertilità genetica Infertilität, genetisch bedingte Infertilité génétique hrdo:pat_id_20323 neant D56.0 275745 group of phenomes Alfa talassemia e malattie correlate Alfa-talasemia y enfermedades relacionadas Alpha-Thalassämie und verwandte Krankheiten Alpha-thalassemia and related diseases Alpha-thalassemia and related diseases Alpha-thalassémie et maladies associées hrdo:pat_id_20324 neant D56.1 275749 group of phenomes Beta talassemia e malattie correlate Beta-Thalassämie und verwandte Krankheiten Beta-talasemia y enfermedades relacionadas Beta-thalassemia and related diseases Beta-thalassemia and related diseases Bêta-thalassémie et maladies associées hrdo:pat_id_20325 neant D57 275752 group of phenomes Anemia de células falciformes y enfermedades relacionadas Drépanocytose et maladies associées Malattia a cellule falciformi e malattie correlate Sichelzellenanämie und verwandte Krankheiten Sickle cell disease and related diseases Sickle cell disease and related diseases hrdo:pat_id_20326 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant E75.5 275761 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficiencia de LAL Deficiencia de lipasa ácida lisosomal Deficit di LAL Déficit de LAL LAL deficiency LAL-Mangel Deficit della lipasi acida lisosomiale Déficit de lipasa ácida lisosomal Déficit en acid lipase lysosomale Lysosomal acid lipase deficiency Lysosomal acid lipase deficiency Lysosomale saure Lipase-Mangel hrdo:pat_id_20327 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Variabel Variabile Variable Variable Variable Variable Variável neant I27.0 275766 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch etiological subtype 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 HAPI HTAPi IPAH IPAH IPAH IPAH Hipertensión arterial pulmonar idiopática Hypertension artérielle pulmonaire idiopathique Idiopathic pulmonary arterial hypertension Idiopathic pulmonary arterial hypertension Ipertensione arteriosa polmonare idiopatica Pulmonale arterielle Hypertonie (PAH), idiopathische hrdo:pat_id_20328 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável neant I27.0 275777 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate etiological subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown FPAH FPAH FPAH FPAH Familial pulmonary arterial hypertension HAPH HTAPf Hereditary pulmonary arterial hypertension Hipertensión arterial pulmonar familiar Hypertension artérielle pulmonaire familiale Ipertensione arteriosa polmonare ereditaria Ipertensione arteriosa polmonare familiare Pulmonale arterielle Hypertonie, familiäre Heritable pulmonary arterial hypertension Heritable pulmonary arterial hypertension Hipertensión arterial pulmonar hereditaria Hypertension artérielle pulmonaire héréditaire Ipertensione arteriosa polmonare ereditabile Pulmonale arterielle Hypertonie, hereditäre hrdo:pat_id_20329 neant I27.2 275786 group of phenomes Drug- or toxin-induced PAH HAP inducida por drogas o toxinas HTAP médicamenteurse ou toxique PAH indotta dalle tossine o dai farmaci PAH, Medikamenten- oder Toxin-induzierte Drug- or toxin-induced pulmonary arterial hypertension Drug- or toxin-induced pulmonary arterial hypertension Hipertensión arterial pulmonar inducida por drogas o toxinas Hypertension artérielle pulmonaire médicamenteurse ou toxique Ipertensione arteriosa polmonare indotta dalle tossine o dai farmaci Pulmonale arterielle Hypertonie, Medikamenten- oder Toxin-induzierte hrdo:pat_id_2033 235000 10019463 neant Q87.3 2128 morphological anomaly Hemi 3 syndrome Hemi 3, síndrome Hemi 3-Syndrom Hemicorporal hypertrophy Hypertrophie hémi-corporelle Isolated hemihyperplasia Sindrome emi 3 Syndrome hémi 3 Síndrome Hemi 3 Síndrome Hemi 3 Emi-ipertorfia Hemihipertrofia Hemihipertrofia - hemihipostesia - hemiarreflexia - escoliose Hemihypertrophie Hemihypertrophy Hémihypertrophie hrdo:pat_id_20330 neant I27.2 275791 group of phenomes HAP asociada a otra enfermedad HAP secundaria HTAP associée à une autre maladie HTAP secondaire PAH associata ad altra malattia PAH associated with another disease PAH mit assoziierter Krankheit PAH secondaria PAH, sekundäre Secondary PAH Hipertensión arterial pulmonar relacionada con otra enfermedad Hypertension artérielle pulmonaire associée à une autre maladie Ipertensione arteriosa polmonare associata ad altra malattia Pulmonale arterielle Hypertonie mit assoziierter Krankheit Pulmonary arterial hypertension associated with another disease Pulmonary arterial hypertension associated with another disease hrdo:pat_id_20331 neant I27.2 275798 group of phenomes HAP asociada a enfermedad del tejido conectivo HTAP associée à une connectivite PAH associata a malattia del tessuto connettivo PAH associated with connective tissue disease PAH mit assoziierter Bindegewebskrankheit Hipertensión arterial pulmonar asociada a enfermedad del tejido conectivo Hypertension artérielle pulmonaire associée à une connectivite Ipertensione arteriosa polmonare associata a malattia del tessuto connettivo Pulmonale arterielle Hypertonie mit assoziierter Bindegewebskrankheit Pulmonary arterial hypertension associated with connective tissue disease Pulmonary arterial hypertension associated with connective tissue disease hrdo:pat_id_20332 neant I27.2 275803 group of phenomes HAP asociada a enfermedad cardíaca congénita HTAP associée à une maladie cardiaque congénitale PAH associata a cardiopatia congenita PAH associated with congenital heart disease PAH mit assoziierter kongenitaler Herzkrankheit Hipertensión arterial pulmonar asociada a enfermedad cardíaca congénita Hypertension artérielle pulmonaire associée à une maladie cardiaque congénitale Ipertensione arteriosa polmonare associata a cardiopatia congenita Pulmonale arterielle Hypertonie mit assoziierter kongenitaler Herzkrankheit Pulmonary arterial hypertension associated with congenital heart disease Pulmonary arterial hypertension associated with congenital heart disease hrdo:pat_id_20333 neant I27.2 275808 group of phenomes HAP asociada a infección por VIH HTAP associée à une infection VIH PAH associata a infezione da HIV PAH associated with HIV infaction PAH mit assoziierter HIV-Infektion Hipertensión arterial pulmonar asociada con infección por VIH Hypertension artérielle pulmonaire associée à une infection VIH Ipertensione arteriosa polmonare associata a infezione da HIV Pulmonale arterielle Hypertonie mit assoziierter HIV-Infektion Pulmonary arterial hypertension associated with HIV infection Pulmonary arterial hypertension associated with HIV infection hrdo:pat_id_20334 neant I27.2 275813 group of phenomes HAP asociada a hipertensión portal HPP HPoP HTAP associée à une hypertension portale Hipertensión portopulmonar Hypertension porto-pulmonaire Ipertensione portopolmonare PAH associata a ipertensione portale PAH associated with portal hypertension PAH mit assoziiertem Pfortaderhochdruck POPH POPH POPH Portopulmonale Hypertension Portopulmonary hypertension Hipertensión arterial pulmonar asociada a hipertensión portal Hypertension artérielle pulmonaire associée à une hypertension portale Ipertensione arteriosa polmonare associata a ipertensione portale Pulmonale arterielle Hypertonie mit assoziierter portaler Hypertension Pulmonary arterial hypertension associated with portal hypertension Pulmonary arterial hypertension associated with portal hypertension hrdo:pat_id_20335 neant I27.2 275823 group of phenomes HAP asociada a esquistosomiasis HTAP associée à une schistosomiase PAH associata a schistosomiasi PAH associated with schistosomiasis PAH mit assoziierter Schistosomiasis Hipertensión arterial pulmonar asociada a esquistosomiasis Hypertension artérielle pulmonaire associée à une schistosomiase Ipertensione arteriosa polmonare associata a schistosomiasi Pulmonale arterielle Hypertonie mit assoziierter Schistosomiasis Pulmonary arterial hypertension associated with schistosomiasis Pulmonary arterial hypertension associated with schistosomiasis hrdo:pat_id_20336 neant I27.2 275828 group of phenomes HAP asociada a anemia hemolítica crónica HTAP associée à une anémie hémolytique chronique PAH associata ad anemia emolitica cronica PAH associated with chronic hemolytic anemia PAH mit assoziierter chronischer hämolytischer Anämie Hipertensión arterial pulmonar asociada a anemia hemolítica crónica Hypertension artérielle pulmonaire associée à une anémie hémolytique chronique Ipertensione arteriosa polmonare associata ad anemia emolitica cronica Pulmonale arterielle Hypertonie mit assoziierter chronischer hämolytischer Anämie Pulmonary arterial hypertension associated with chronic hemolytic anemia Pulmonary arterial hypertension associated with chronic hemolytic anemia hrdo:pat_id_20337 neant I27.2 275837 group of phenomes HP debida a una enfermedad pulmonar y/o hipoxia HP due à une maladie pulmonaire et/ou une hypoxie Ipertensione polmonare da pneumopatia e/o ipossia PH da penumopatia e/o ipossia PH dovuta a penumopatia e/o ipossia PH due to lung disease and/or hypoxia PH durch Lungenkrankheit und/oder Hypoxie PH owing to lung disease and/or hypoxia Pulmonary hypertension due to lung disease and/or hypoxia Hipertensión pulmonar debida a una enfermedad pulmonar y/o hipoxia Hypertension pulmonaire due à une maladie pulmonaire et/ou une hypoxie Ipertensione polmonare dovuta a pneumopatia e/o ipossia Pulmonale Hypertension infolge Lungenkrankheit und/oder Hypoxie Pulmonary hypertension owing to lung disease and/or hypoxia Pulmonary hypertension owing to lung disease and/or hypoxia hrdo:pat_id_20338 275844 group of phenomes HAP con mecanismos multifactoriales no aclarados HP d'origine multifactorielle non élucidée PH con meccanismo multifattoriale non noto PH unklarer multifaktorieller Genese PH with unclear multifactorial mechanism Hipertensión arterial pulmonar con mecanismos multifactoriales no aclarados Hypertension pulmonaire d'origine multifactorielle non élucidée Ipertensione arteriosa polmonare con meccanismo multifattoriale non noto Pulmonale arterielle Hypertonie unklarer multifaktorieller Genese Pulmonary arterial hypertension with unclear multifactorial mechanism Pulmonary arterial hypertension with unclear multifactorial mechanism hrdo:pat_id_20339 275853 group of phenomes Sindrome con ipertensione polmonare come segno cardinale Syndrom mit Pulmonale Hypertension als Hauptmerkmal Syndrome avec une hypertension pulmonaire comme manifestation majeure Syndrome with pulmonary hypertension as a major feature Syndrome with pulmonary hypertension as a major feature Síndrome con hipertensión pulmonar como rasgo principal hrdo:pat_id_2034 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=corneal+opacity%5Bmh%5D+intestines%2Fab+Skin+Diseases Q87.3 2129 malformation syndrome HIPO syndrome HIPO, síndrome HIPO-Syndrom Sindrome HIPO Syndrome HIPO Síndrome HIPO Síndrome de HIPO Emi-ipertofia - briglia intestinale - opacità corneali Hemihipertrofia - brida intestinal - opacidad corneal Hemihipertrofia - teia intestinal - apêndices pré-auriculares - opacidade da córnea Hemihypertrophie mit intestinalen Briden und Hornhauttrübung Hemihypertrophy - intestinal web - corneal opacity Hémihypertrophie - bride intestinale - opacités cornéennes hrdo:pat_id_20340 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 172700 600274 600795 neant G31.0 275864 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown bv-FTD bv-FTD bv-FTD bv-FTD vt-DFT Behavioral variant of frontotemporal dementia Behavioural variant of frontotemporal dementia Demencia frontotemporal, variante conductual Démence fronto-temporale, variante comportementale Variante comportamentale della demenza frontotemporale Verhaltensvariante der frontotemporalen Demenz hrdo:pat_id_20341 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 105550 608030 612069 neant 275872 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown DFT-SLA Demencia frontotemporal con esclerosis lateral amiotrófica Demenza frontotemporale con sclerosi laterale amiotrofica Démence fronto-temporale avec sclérose latérale amyotrophique FTD-ALS FTD-ALS FTD-ALS FTD-ALS FTD-MND FTD-MND FTD-MND FTD-MND Frontotemporal dementia with amyotrophic lateral sclerosis Frontotemporalen Demenz mit Amyotrophe Lateralsklerose Demencia frontotemporal con enfermedad de la motoneurona Demenza frontotemporale con malattia dei motoneuroni Démence fronto-temporale avec maladie du motoneurone Frontotemporal dementia with motor neuron disease Frontotemporal dementia with motor neuron disease Frontotemporalen Demenz mit Vorderhornerkrankung hrdo:pat_id_20342 neant P55 275938 group of phenomes Enfermedad hemolítica por aloinmunización materno-fetal Hemolytic disease due to fetomaternal allo-immunization Hemolytic disease due to fetomaternal allo-immunization Hämolytische Krankheit durch fetomaternale Alloimmunisierung Maladie hémolytique par allo-immunisation foeto-maternelle Malattia emolitica da alloimmunizzazione fetomaterna hrdo:pat_id_20343 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant P55.8 275944 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Allo-immunisation foeto-maternelle Kell Alloimmunizzazione materna anti-Kell Aloinmunización anti-Kell materna Anti-Kell-Alloimmunisierung, maternale Maternal anti-Kell allo-immunization Enfermedad hemolítica del recién nacido por aloinmunización Kell Hemolytic disease of the newborn with Kell allo-immunization Hemolytic disease of the newborn with Kell allo-immunization Hämolytische Krankheit des Neugeborenen mit Kell-Alloimmunisierung Maladie hémolytique du nouveau-né avec Kell allo-immunisation Malattia emolitica neonatale con alloimmunizzazione di Kell hrdo:pat_id_20344 276058 group of phenomes Enfermedad genética neurodegenerativa con demencia Genetic neurodegenerative disease with dementia Genetic neurodegenerative disease with dementia Maladie neurodégénérative génétique avec démence Malattia neurodegenerativa genetica con demenza Neurodegenerative Krankheit mit Demenz, genetisch bedingte hrdo:pat_id_20345 276061 group of phenomes Degeneración frontotemporal genética con demencia Degenerazione frontotemporale genetica con demenza Dégénérescence fronto-temporale génétique avec démence Frontotemporale Degeneration mit Demenz, genetisch bedingte Genetic frontotemporal degeneration with dementia Genetic frontotemporal degeneration with dementia hrdo:pat_id_20346 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 276066 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Bile acid CoA ligase deficiency Bile acid CoA ligase deficiency and defective amidation Deficit di CoA ligasi degli acidi biliari e difetto dell'amidazione Déficit de ácido biliar CoA ligasa y amidación defectuosa Gallensäuren-CoA-Ligase-Mangel - Amidierungs-Defekt Insuffisance en acides biliaires-CoA ligase et défaut d'amidation hrdo:pat_id_20347 276142 disease Salivary glands tumor Salivary glands tumor Speicheldrüsentumor Tumeur des glandes salivaires Tumor de las glándulas salivales Tumore delle ghiandole salivari hrdo:pat_id_20348 neant C07 C08 276145 clinical subtype Malignant epithelial tumor of the salivary glands Malignant epithelial tumor of the salivary glands Speicheldrüsentumor, epithelialer maligner Tumeur épithéliale maligne des glandes salivaires Tumor epitelial maligno de las glándulas salivales Tumore epiteliale maligno delle ghiandole salivari hrdo:pat_id_20349 neant D11 276148 clinical subtype Benign epithelial tumor of the salivary glands Benign epithelial tumor of the salivary glands Speicheldrüsentumor, epithelialer beninger Tumeur épithéliale bénigne des glandes salivaires Tumor epitelial benigno de las glándulas salivales Tumore epiteliale benigno delle ghiandole salivari hrdo:pat_id_2035 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 10019464 neant Q71.8 Q72.8 Q73.8 2130 33076008 C0018987 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Longitudinal meromelia Meromelia longitudinal Meromelia longitudinale Meromelie, longitudinale Méromélie longitudinale Emimelia Hemimelia Hemimelia Hemimelia Hemimelie Hémimélie hrdo:pat_id_20350 610755 neant D44.8 276152 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown MEN4 MEN4 MEN4 MEN4 NEM4 Multiple endocrine neoplasia type 4 Multiple endocrine neoplasia type 4 Neoplasia endocrina múltiple tipo 4 Neoplasia endrocina multipla, tipo 4 Neoplasie, endokrine multiple, Typ 4 Néoplasie endocrinienne multiple type 4 hrdo:pat_id_20351 neant D44.8 276161 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes Multiple endocrine neoplasia Multiple endocrine neoplasia Neoplasia endocrina multipla Neoplasia endocrina múltiple Neoplasie, endokrine multiple Néoplasie endocrinienne multiple hrdo:pat_id_20352 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 276174 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Syndrome stuporeux récurrent idiopathique Estupor recurrente idiopático Idiopathic recurrent stupor Idiopathic recurrent stupor Stupeur récurrente idiopathique Stupor idiopatico ricorrente Stupor, idiopathischer rekurrenter hrdo:pat_id_20353 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 613909 neant G11.8 276183 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atassia cerebellare con azoospermia e deficit cognitivo Ataxia cerebelosa com azospermia e deficiência intelectual Ataxia cerebelosa con azoospermia y déficit intelectual Ataxie cérébelleuse avec azoospermie et déficience intellectuelle Cerebellar ataxia with azospermia and intellectual deficiency SCA32 SCA32 SCA32 SCA32 SCA32 SCA32 Zerebelläre Ataxie mit Azoospermie und Intelligenzminderung Atassia spinocerebellare, tipo 32 Ataxia espinocerebelosa de tipo 32 Ataxia espinocerebelosa, tipo 32 Ataxie spinocérébelleuse type 32 Ataxie, spinozerebelläre, Typ 32 Spinocerebellar ataxia type 32 hrdo:pat_id_20354 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 613908 neant G11.8 276193 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SCA35 SCA35 SCA35 SCA35 SCA35 SCA35 Atassia spinocerebellare, tipo 35 Ataxia espinocerebelosa de tipo 35 Ataxia espinocerebelosa, tipo 35 Ataxie spinocérébelleuse type 35 Ataxie, spinozerebelläre, Typ 35 Spinocerebellar ataxia type 35 hrdo:pat_id_20355 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 614153 neant G11.8 276198 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SCA36 SCA36 SCA36 SCA36 SCA36 SCA36 Atassia spinocerebellare, tipo 36 Ataxia espinocerebelosa de tipo 36 Ataxia espinocerebelosa, tipo 36 Ataxie spinocérébelleuse type 36 Ataxie, spinozerebelläre, Typ 36 Spinocerebellar ataxia type 36 hrdo:pat_id_20356 neant E76.2 276212 clinical subtype MPS6 a progressione rapida MPS6, de progresión rápida MPS6, forme rapidement progressive MPS6, rapidly progressing MPS6, rasch fortschreitend MPSVI a progressione rapida MPSVI, de progresión rápida MPSVI, forme rapidement progressive MPSVI, rapidly progressing MPSVI, rasch fortschreitend Mucopolisacaridosis de tipo VI, de progresión rápida Mucopolisaccaridosi tipo VI, a progressione rapida Mucopolysaccharidose type VI, forme rapidement progressive Mucopolysaccharidosis type VI, rapidly progressing Mucopolisacaridosis de tipo 6, de progresión rápida Mucopolisaccaridosi tipo 6, a progressione rapida Mucopolysaccharidose type 6, forme rapidement progressive Mucopolysaccharidosis type 6, rapidly progressing Mucopolysaccharidosis type 6, rapidly progressing Mukopolysaccharidose Typ 6, rasch fortschreitend hrdo:pat_id_20357 neant E76.2 276223 clinical subtype MPS6, a progressione lenta MPS6, de progresión lenta MPS6, forme lentement progressive MPS6, langsam fortschreitend MPS6, slowly progressing MPSVI, a progressione lenta MPSVI, de progresión lenta MPSVI, forme lentement progressive MPSVI, langsam fortschreitend MPSVI, slowly progressing Mucopolisacaridosis de tipo VI, de progresión lenta Mucopolisaccaridosi tipo VI, a progressione lenta Mucopolysaccharidose type VI, forme lentement progressive Mucopolysaccharidosis type VI, slowly progressing Mucopolisacaridosis de tipo 6, de progresión lenta Mucopolisaccaridosi tipo 6, a progressione lenta Mucopolysaccharidose type 6, forme lentement progressive Mucopolysaccharidosis type 6, slowly progressing Mucopolysaccharidosis type 6, slowly progressing Mukopolysaccharidose Typ 6, langsam fortschreitend hrdo:pat_id_20358 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 612997 neant N46 276234 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CATSPER1-related non syndromic male infertility CATSPER1-related non syndromic male infertility Infertilidad masculina no sindrómica ligada a CATSPER1 Infertilità maschile non sindromica associata a CATSPER1 Infertilité masculine non syndromique liée à CATSPER1 Männliche Infertilität, CATSPER1-abhängige, nicht syndromale hrdo:pat_id_20359 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant G11.8 276238 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Joseph type SCA3 Joseph type SCA3 SCA3 tipo Joseph SCA3, Typ Joseph SCA3, tipo Joseph Enfermedad de Machado-Joseph tipo 1 Machado-Joseph disease type 1 Machado-Joseph disease type 1 Machado-Joseph-Krankheit Typ 1 Maladie de Machado-Joseph type 1 Malattia di Machado-Joseph, tipo 1 hrdo:pat_id_2036 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 235510 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(lymphedema%5Bmajr%5D+Lymphangiectasis,+Intestinal%5Bmh%5D)+OR+(lymphedema%5Bti%5D+lymphangiectasia%5Bti%5D)+OR+Hennekam%5Bti%5D Q87.8 2136 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Linfangectasia-linfedema, tipo Hennekam Linfangiectasias - linfedema, tipo Hennekam Linfedema - linfangectasia - ritardo mentale Linfedema - linfangiectasia - atraso mental Lymphedema - lymphangiectasia - intellectual deficit Lymphoedème - lymphangiectasie - déficit intellectuel Lymphödeme - Lympangiektasien - geistige Retardierung Hennekam syndrome Hennekam-Syndrom Sindrome di Hennekam Syndrome de Hennekam Síndrome de Hennekam Síndrome de Hennekam hrdo:pat_id_20360 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant G11.8 276241 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown SCA3 tipo Thomas SCA3, Typ Thomas SCA3, tipo Thomas Thomas type SCA3 Thomas type SCA3 Enfermedad de Machado-Joseph tipo 2 Machado-Joseph disease type 2 Machado-Joseph disease type 2 Machado-Joseph-Krankheit Typ 2 Maladie de Machado-Joseph type 2 Malattia di Machado-Joseph, tipo 2 hrdo:pat_id_20361 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant G11.8 276244 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Machado type SCA3 Machado type SCA3 SCA3 tipo Machado SCA3, Typ Machado SCA3, tipo Machado Enfermedad de Machado-Joseph tipo 3 Machado-Joseph disease type 3 Machado-Joseph disease type 3 Machado-Joseph-Krankheit Typ 3 Maladie de Machado-Joseph type 3 Malattia di Machado-Joseph, tipo 3 hrdo:pat_id_20362 Variabel Variabile Variable Variable Variable Variable Variável 278700 neant Q82.1 276249 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown XPA XPA Xeroderma pigmentoso grupo de complementación A Xeroderma pigmentoso, gruppo di complementazione A Xeroderma pigmentosum Komplementationsgruppe A Xeroderma pigmentosum complementation group A Xeroderma pigmentosum complementation group A Xeroderma pigmentosum groupe de complémentation A hrdo:pat_id_20363 Variabel Variabile Variable Variable Variable Variable Variável 610651 neant Q82.1 276252 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 XPB XPB Xeroderma pigmentoso grupo de complementación B Xeroderma pigmentoso, gruppo di complementazione B Xeroderma pigmentosum Komplementationsgruppe B Xeroderma pigmentosum complementation group B Xeroderma pigmentosum complementation group B Xeroderma pigmentosum groupe de complémentation B hrdo:pat_id_20364 Variabel Variabile Variable Variable Variable Variable Variável 278720 neant Q82.1 276255 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 XPC XPC Xeroderma pigmentoso grupo de complementación C Xeroderma pigmentoso, gruppo di complementazione C Xeroderma pigmentosum Komplementationsgruppe C Xeroderma pigmentosum complementation group C Xeroderma pigmentosum complementation group C Xeroderma pigmentosum groupe de complémentation C hrdo:pat_id_20365 Variabel Variabile Variable Variable Variable Variable Variável 278730 neant Q82.1 276258 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 XPD XPD Xeroderma pigmentoso grupo de complementación D Xeroderma pigmentoso, gruppo di complementazione D Xeroderma pigmentosum Komplementationsgruppe D Xeroderma pigmentosum complementation group D Xeroderma pigmentosum complementation group D Xeroderma pigmentosum groupe de complémentation D hrdo:pat_id_20366 Variabel Variabile Variable Variable Variable Variable Variável 278740 neant Q82.1 276261 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 XPE XPE Xeroderma pigmentoso grupo de complementación E Xeroderma pigmentoso, gruppo di complementazione E Xeroderma pigmentosum Komplementationsgruppe E Xeroderma pigmentosum complementation group E Xeroderma pigmentosum complementation group E Xeroderma pigmentosum groupe de complémentation E hrdo:pat_id_20367 Variabel Variabile Variable Variable Variable Variable Variável 278760 neant Q82.1 276264 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 XPF XPF Xeroderma pigmentoso grupo de complementación F Xeroderma pigmentoso, gruppo di complementazione F Xeroderma pigmentosum Komplementationsgruppe F Xeroderma pigmentosum complementation group F Xeroderma pigmentosum complementation group F Xeroderma pigmentosum groupe de complémentation F hrdo:pat_id_20368 Variabel Variabile Variable Variable Variable Variable Variável 278780 neant Q82.1 276267 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 XPG XPG Xeroderma pigmentoso grupo de complementación G Xeroderma pigmentoso, gruppo di complementazione G Xeroderma pigmentosum Komplementationsgruppe G Xeroderma pigmentosum complementation group G Xeroderma pigmentosum complementation group G Xeroderma pigmentosum groupe de complémentation G hrdo:pat_id_20369 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant E88.0 276271 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate biological anomaly >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Analbuminemia Analbuminemia Analbuminemia Analbuminämie Analbuminémie Bisalbuminemia Bisalbuminemia Bisalbuminemia Bisalbuminämie Bisalbuminémie FDH FDH FDH FDH HDF Familial dysalbuminemic hyperthyroxinemia Familial dysalbuminemic hyperthyroxinemia Hipertiroxinemia disalbuminémica familiar Hyperthyroxinämie, dysalbuminämische, familiäre Hyperthyroxinémie dysalbuminémique familiale Ipertiroxinemia disalbuminemica familiare hrdo:pat_id_2037 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 400045 D050090 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28True+hermaphroditism%5Bti%5D+OR+hermaphroditism%2C+true%5Bmh%5D%29+%28humans+OR+patient+OR+patients%29 Q56.0 2138 18978002 C2748895 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown 46,XX ovotesticular DSD 46,XX ovotesticular DSD ADS ovotesticulaire 46,XX Hermaphrodisme vrai True hermaphroditism 46,XX ovotesticular disorder of sex development Anomalies ovotesticulaires du développement sexuel 46,XX Ermafrodistismo vero Hermafroditismo verdadeiro Hermafroditismo verdadero XX Hermaphroditismus, echter hrdo:pat_id_20370 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant Q87.3 276280 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 HHML HHML HHML HHML HHML Hemihyperplasia-multiple lipomatosis syndrome Hemihyperplasia-multiple lipomatosis syndrome Hemihyperplasie-multiples Lipomatosis-Syndrom Sindrome emiiperplasia-lipomatosi multipla Syndrome de la lipomatose multiple - hémihyperplasie Síndrome de hemihiperplasia-lipomatosis múltiple hrdo:pat_id_20371 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 138800 neant E04.2 276399 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown FMNG FMNG FMNG Familial MNG GMN familial MNG familial MNG familiar Bocio multinodular familiar Familial multinodular goiter Familial multinodular goiter Gozzo multinodulare familiare Goître multinodulaire familial Struma, mehrknotige, familiäre Form hrdo:pat_id_20372 276402 disease Encefalite limbica con anticorpi anti-CASPR2 Encefalitis límbica con anticuerpos caspr2 Encéphalite limbique avec anticorps caspr2 Limbic encephalitis with caspr2 antibodies Limbic encephalitis with caspr2 antibodies Limbische Enzephalitis mit Caspr2-Antikörper hrdo:pat_id_20373 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 614156 neant 276405 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Green jaundice Ictericia verde Ittero verde Jaunisse verte Verdinikterus Hiperbiliverdinemia Hyperbiliverdinemia Hyperbiliverdinemia Hyperbiliverdinämie Hyperbiliverdinémie Iperbiliverdinemia hrdo:pat_id_20374 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 276410 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cerebral vasculopathy with early-onset stroke Cerebral vasculopathy with early-onset stroke Vasculopathie cérébrale avec accident vasculaire cérébral précoce Vasculopatia cerebrale con ictus a esordio precoce Vasculopatía cerebral con apoplejía de aparición temprana Zerebrale Vaskulopathie mit früh beginnendem Schlaganfall hrdo:pat_id_20375 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q93.5 276413 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Del(10)(q22.3q23.3) Del(10)(q22.3q23.3) Del(10)(q22.3q23.3) Del(10)(q22.3q23.3) Del(10)(q22.3q23.3) Deleción 10q22.3q23.3 Deletion 10q22.3q23.3 Deletion 10q22.3q23.3 Delezione 10q22.3q23.3 Délétion 10q22.3q23.3 Monosomia 10q22.3q23.3 Monosomie 10q22.3q23.3 Monosomie 10q22.3q23.3 Monosomy 10q22.3q23.3 Monosomía 10q22.3q23.3 10q22.3q23.3 microdeletion syndrome 10q22.3q23.3 microdeletion syndrome Mikrodeletionssyndrom 10q22.3q23.3 Sindrome da microdelezione 10q22.3q23.3 Syndrome de microdélétion 10q22.3q23.3 Síndrome de microdeleción 10q22.3q23.3 hrdo:pat_id_20376 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q92.3 276422 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Dup(10)(q22.3q23.3) Dup(10)(q22.3q23.3) Dup(10)(q22.3q23.3) Dup(10)(q22.3q23.3) Dup(10)(q22.3q23.3) Trisomia 10q22.3q23.3 Trisomie 10q22.3q23.3 Trisomie 10q22.3q23.3 Trisomy 10q22.3q23.3 Trisomía 10q22.3q23.3 10q22.3q23.3 microduplication syndrome 10q22.3q23.3 microduplication syndrome Mikroduplikationssyndrom 10q22.3q23.3 Sindrome da microduplicazione 10q22.3q23.3 Syndrome de microduplication 10q22.3q23.3 Síndrome de microduplicación 10q22.3q23.3 hrdo:pat_id_20377 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant G44.8 276429 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cefalea hípnica Cefalea ipnica Céphalée hypnique Hypnic headache Hypnic headache Kopfschmerz, schlafgebundener hrdo:pat_id_2038 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter C538112 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=epilepsy%5Bti%5D+mental+retardation+nose%2Fab Q87.0 2139 C2931736 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso mental - epilepsia - nariz bolboso Déficit intellectuel - épilepsie - nez bulbeux Geistige Retardierung - Epilepsie - bulböse Nase Intellectual deficit - epilepsy - bulbous nose Ritardo mentale - epilessia - naso globoso Hernandez-Aguire-Negrete-Syndrom Hernandez-Aguirre Negrete syndrome Sindrome di Hernandez-Aguirre-Negrete Syndrome de Hernandez-Aguirre Negrete Síndrome de Hernandez-Aguire-Negrete Síndrome de Hernandez-Aguirre-Negrete hrdo:pat_id_20380 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300855 neant 276432 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Ogden syndrome Ogden-Syndrom Sindrome di Ogden Syndrome d'Ogden Síndrome de Ogden Aged appearance - cranofacial anomalies - hypotonia - developmental delay - cryptorchidism - cardiac arrhythmia Gealterte Erscheinung - Entwicklungsverzögerung - Herzrhythmusstörung Premature ageing appearance-developmental delay-cardiac arrhythmia syndrome Sindrome aspetto senile prematuro-ritardo dello sviluppo-aritmia cardiaca cardiaca Syndrome d'aspect progérioïde-retard de développement-arythmie cardiaque Síndrome de aspecto envejecido prematuro - retraso en el desarrollo - arritmia cardíaca hrdo:pat_id_20381 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 615048 neant 276435 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Lower motor neuron syndrome with late-adult onset Lower motor neuron syndrome with late-adult onset Sindrome dei motoneuroni inferiori a esordio tardivo nell'età adulta Syndrome du motoneurone inférieur tardif de l'adulte Síndrome de neurona motora inferior con aparición tardía en el adulto Untere Vorderhornerkrankung mit Beginn im späten Erwachsenenalter hrdo:pat_id_20382 neant E16.1 276525 group of phenomes FHI FHI FHI FHI FHI Familial hyperinsulinemic hypoglycemia Hipoglucemia hiperinsulinémica familiar Hypoglycémie hyperinsulinémique familiale Hypoglykämie, hyperinsulinämische, familiäre Ipoglicemia iperinsulinemica familiare Familial hyperinsulinism Familial hyperinsulinism Hiperinsulinismo familiar Hyperinsulinisme familial Hyperinsulinismus, familiärer Iperinsulinismo familiare hrdo:pat_id_20383 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant E16.1 276556 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hipoglucemia hiperinsulinémica por déficit de UCP2 Hyperinsulinemic hypoglycemia due to UCP2 deficiency Hypoglycémie hyperinsulinémique par déficit en UCP2 Hypoglykämie, hyperinsulinämische, durch UCP2-Mangel Ipoglicemia iperinsulinemica da deficit di UCP2 Hiperinsulinismo por déficit de UCP2 Hyperinsulinism due to UCP2 deficiency Hyperinsulinism due to UCP2 deficiency Hyperinsulinisme par déficit en UCP2 Hyperinsulinismus durch UCP2-Mangel Iperinsulinismo da deficit di UCP2 hrdo:pat_id_20384 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 256450 neant E16.1 276575 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency Hipoglucemia hiperinsulinémica autosómica dominante por déficit de SUR1 Hypoglycémie hyperinsulinémique autosomique dominant par déficit en SUR1 Hypoglykämie, hyperinsulinämische, durch SUR1-Mangel Ipoglicemia iperinsulinemica autosomica dominante da deficit di SUR1 Autosomal dominant hyperinsulinism due to SUR1 deficiency Autosomal dominant hyperinsulinism due to SUR1 deficiency Hiperinsulinismo autosómico dominante por déficit de SUR1 Hyperinsulinisme autosomique dominant par déficit en SUR1 Hyperinsulinismus durch SUR1-Mangel, autosomal-dominanter Iperinsulinismo autosomico dominante da deficit di SUR1 hrdo:pat_id_20385 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601820 neant E16.1 276580 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency Hipoglucemia hiperinsulinémica autosómica dominante por déficit de Kir6,2 Hypoglycémie hyperinsulinémique autosomique dominant par déficit en Kir6.2 Hypoglykämie, hyperinsulinämische, durch Kir6.2-Mangel Ipoglicemia iperinsulinemica autosomica dominante da deficit di Kir6.2 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency Autosomal dominant hyperinsulinism due to Kir6.2 deficiency Hiperinsulinismo autosómico dominante por déficit de Kir6.2 Hyperinsulinisme autosomique dominant par déficit en Kir6.2 Hyperinsulinismus durch Kir6.2-Mangel, autosomal-dominanter Iperinsulinismo autosomico dominante da deficit di Kir6.2 hrdo:pat_id_20386 neant E16.1 276585 group of phenomes Diazoxide-resistant hyperinsulinemic hypoglycemia Hipoglucemia hiperinsulinémica resistente al diazóxido Hypoglycémie hyperinsulinémique résistante au diazoxide Hypoglykämie, hyperinsulinämische, Diazoxid-resistente Ipoglicemia iperinsulinemica resistente al diazossido Diazoxide-resistant hyperinsulinism Diazoxide-resistant hyperinsulinism Hiperinsulinismo resistente al diazóxido Hyperinsulinisme resistant au diazoxide Hyperinsulinismus, Diazoxid-resistenter Iperinsulinismo resistente al diazossido hrdo:pat_id_20387 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 256450 neant E16.1 276598 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hipoglucemia hiperinsulinémica por déficit de SUR1, resistente al diazóxido Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form Hypoglycémie hyperinsulinémique par défict en SUR1, forme focale résistante au diazoxide Hypoglykämie, hyperinsulinämische, durch SUR1-Mangel, Diazoxid-resistente fokale Form Ipoglicemia iperinsulinemica da deficit di SUR1, forma focale resistente al diazossido Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency Hiperinsulinismo focal resistente al diazóxido por déficit de SUR1 Hyperinsulinisme focal résistant au diazoxide par défict en SUR1 Hyperinsulinismus, fokaler, Diazoxid-resistenter, durch SUR1-Mangel Iperinsulinismo focale resistente al diazossido da deficit di SUR1 hrdo:pat_id_20388 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601820 neant E16.1 276603 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hipoglucemia hiperinsulinémica por déficit de Kir6.2, resistente al diazóxido Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form Hypoglycémie hyperinsulinémique par défict en Kir6.2, forme focale résistante au diazoxide Hypoglykämie, hyperinsulinämische, durch Kir6.2-Mangel, Diazoxid-resistente fokale Form Ipoglicemia iperinsulinemica da deficit di Kir6.2, forma focale resistente al diazossido Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency Hiperinsulinismo focal resistente al diazóxido por déficit de Kir6.2 Hyperinsulinisme focal résistant au diazoxide par défict en Kir6.2 Hyperinsulinismus, fokaler, Diazoxid-resistenter, durch Kir6.2-Mangel Iperinsulinismo focale resistente al diazossido da deficit di Kir6.2 hrdo:pat_id_20389 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 276608 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown NI-PHH NI-PHH NI-PHH NI-PHH NI-PHH Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia Hipoglucemia hiperinsulinémica persistente sin insulinoma de aparición adulta Hypoglycémie hyperinsulinémique persistante de l'adulte non-insulinome Hypoglykämie, hyperinsulinämische, ohne Insulinom, persistierende Form des Erwachsenen Ipoglicemia iperinsulinemica persistente non-insulinoma a esordio nell'età adulta hrdo:pat_id_20390 neant 276621 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Feocromocitoma/paraganglioma secretante esporádico Paraganglioma/feocromocitoma secernente sporadico Phéochromocytome/paragangliome sécrétant sporadique Sporadic pheochromocytoma/secreting paraganglioma Sporadic pheochromocytoma/secreting paraganglioma Sporadisches Phaeochromozytom/sezernierendes Paragangliom hrdo:pat_id_20391 171300 neant 276624 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Feocromocitoma esporádico Feocromocitoma sporadico Phaeochromozytom, sporadisches Phéochromocytome sporadique Sporadic pheochromocytoma Sporadic pheochromocytoma hrdo:pat_id_20392 276627 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Paragangliom, sezernierendes sporadisches Paraganglioma secernente sporadico Paraganglioma secretante esporádico Paragangliome sécrétant sporadique Sporadic secreting paraganglioma Sporadic secreting paraganglioma hrdo:pat_id_20393 neant Q87.0 276630 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Forma sintomatica della sindrome di Coffin-Lowry nelle femmine portatrici Forma sintomática del síndrome de Coffin-Lowry en mujeres portadoras Forme symptomatique du syndrome de Coffin-Lowry de la femme conductrice Symptomale Form des Coffin-Lowry-Syndroms in weiblichen Anlageträgerinnen Symptomatic form of Coffin-Lowry syndrome in female carriers Symptomatic form of Coffin-Lowry syndrome in female carriers hrdo:pat_id_204 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 193520 neant Q85.0 3444 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Estenose pulmonar com manchas 'café com leite' Estenosis pulmonar - manchas café con leche Lungenstenose mit Café-au-lait Flecken Pulmonic stenosis with 'cafe-au-lait' spots Stenosi polmonare - macchie caffè-latte Sténose pulmonaire - taches café au lait Sindrome di Watson Syndrome de Watson Síndrome de Watson Síndrome de Watson Watson syndrome Watson-Syndrom hrdo:pat_id_2040 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601163 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Diaphragm/ab+limb+deformities%2C+congenital+%28skull/ab+OR+ossification%29%29+NOT+rats Q87.8 2141 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Froster-Huch syndrome Froster-Huch, síndrome de Froster-Huch-Syndrom Sindrome di Froster-Huch Syndrome de Froster-Huch Síndrome de Froster-Huch Síndrome de Froster-Huch Zwerchfellhernie - Extremitätenanomalien - Ossifikationsanomalie des Schädels Anomalia diafragmática - anomalia dos membros - anomalia craniana Diaphragma-Hernie - Extremitätenfehlbildung - Schädelanomalien Diaphragmatic defect - limb deficiency - skull defect Ernia diaframmatica - anomalie degli arti Hernia diafragmática - anomalía de miembros Hernie diaphragmatique - anomalies des membres hrdo:pat_id_20407 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant F98.4 279882 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown clinical syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Espasmo nutans Spasmus nutans Spasmus nutans Spasmus nutans Spasmus nutans Spasmus nutans hrdo:pat_id_20408 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável neant H44.0 H44.1 279888 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Acute endophthalmitis Endoftalmite acuta Endoftalmite aguda Endoftalmitis aguda Endophtalmite aiguë Endophthalmitis, akute hrdo:pat_id_20409 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável neant H44.0 H44.1 279891 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Chronic endophthalmitis Endoftalmite cronica Endoftalmite crónica Endoftalmitis crónica Endophtalmite chronique Endophthalmitis, chronische hrdo:pat_id_20410 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant H35.3 Y41.2 279894 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Maculopathie toxique due aux antipaludéens Maculopatia tossica da farmaci antimalarici Maculopatia tóxica por medicamentos antimaláricos Maculopatía tóxica por antimaláricos Makulopathie, toxische, durch anti-Malaria-Medikamente Toxic maculopathy due to antimalarial drugs hrdo:pat_id_20411 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 279897 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown LOCP Linfoma no Hodgkin oculocerebral primario Linfoma non-Hodgkin oculocerebrale primitivo Linfoma não-Hodgkin oculocerebral primário Lymphome oculo-cérébral primitif non hodgkinien Non-Hodgkin-Lymphom, intraokuläres primäres Primary oculocerebral non-Hodgkin's lymphoma Linfoma oculocerebral primario Linfoma oculocerebral primário Linfoma oculocerebrale primitivo Lymphome oculo-cérébral primitif Okulozerebrales Lymphom, primäres Primary oculocerebral lymphoma hrdo:pat_id_20412 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 279904 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown LIOP Linfoma no Hodgkin intraocular primario Linfoma non-Hodgkin intraoculare primitivo Linfoma não-Hodgkin intraocular primário Lymphome intra-oculaire primaire non hodgkinien PIOL PIOL PIOL PIOL PIOL Primary intraocular non-Hodgkin's lymphoma Linfoma intraocular primario Linfoma intraocular primário Linfoma intraoculare primitivo Lymphome intra-oculaire primaire Okulozerebrales NHL Primary intraocular lymphoma hrdo:pat_id_20413 279911 group of phenomes Linfoma organo-specifico primitivo Linfoma órgano-específico primario Linfoma órgão-específico primário Lymphome primaire spécifique d'organe Organ-spezifisches Lymphom, primäres Primary organ-specific lymphoma hrdo:pat_id_20414 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant H30.2 279914 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown IU IU IU IU IU UI Intermediate uveitis Uveite intermedia Uveitis, intermediäre Uveíte intermédia Uveítis intermedia Uvéite intermédiaire hrdo:pat_id_20415 neant 279919 group of phenomes Infectious posterior uveitis Uveite posteriore infettiva Uveitis, posteriore, infektiöse Form Uveíte posterior infeciosa Uveítis posterior infecciosa Uvéite postérieure infectieuse hrdo:pat_id_20416 neant H20 279922 group of phenomes Infectious anterior uveitis Uveite anteriore infettiva Uveitis, anteriore, infektiöse Form Uveíte anterior infeciosa Uveítis anterior infecciosa Uvéite antérieure infectieuse hrdo:pat_id_20417 neant H44.1 279925 group of phenomes Infectious panuveitis Panuveite infettiva Panuveitis, infektiöse Panuveíte infeciosa Panuveítis infecciosa Panuvéite infectieuse hrdo:pat_id_20418 279928 group of phenomes Paraneoplastic uveitis Uveite paraneoplastica Uveitis, paraneoplastische Uveíte paraneoplásica Uveítis paraneoplásica Uvéite paranéoplasique hrdo:pat_id_20419 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 251880 neant 279934 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Déplétion de l'ADN mitochondrial forme hépatocérébrale par déficit en DGUOK Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency Mitochondriales DNA-Depletions-Syndrom, hepatozerebrale Form durch DGUOK-Mangel Sindrome da deplezione del DNA mitocondriale, forma epatocerebrale da deficit di DGUOK Síndrome de delpeção do DNA mitocondrial, forma hepatocerebral por deficiência da DGUOK Síndrome de depleción del ADN mitocondrial, forma hepatocerebral por déficit de DGUOK hrdo:pat_id_20420 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 162830 neant 279943 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hereditary neutrophilia Neutrofilia ereditaria Neutrofilia hereditaria Neutrofilia hereditária Neutrophilie héréditaire Neutrophilie, hereditäre hrdo:pat_id_20421 Normal Normal Normal Normal Normal Normal Normale Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 279947 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown POIS POIS POIS POIS POIS POIS Maladie postorgasmique Postorgasmic illness syndrome Postorgasmic-Illness-Syndrom Sindrome postorgasmica Síndrome de doença pós-orgásmica Síndrome de enfermedad postorgásmica hrdo:pat_id_20422 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant E83.5 280062 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Calcifilassi Calcifilaxia Calcifilaxis Calciphylaxie Calciphylaxis Kalziphylaxie hrdo:pat_id_20423 neant E83.5 280065 disease Calcifilassi cutanea Calcifilaxia cutis Calcifilaxis cutánea Calciphylaxie cutanée Calciphylaxis cutis Kalziphylaxie, kutane hrdo:pat_id_20424 neant E83.5 280068 disease Calcifilassi viscerale Calcifilaxia visceral Calcifilaxis visceral Calciphylaxie viscérale Kalziphylaxie, viszerale Visceral calciphylaxis hrdo:pat_id_20425 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613661 neant E77.8 280071 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anomalie congénitale de la glycosylation 1p Anomalie congénitale de la glycosylation Ip CDG syndrome type 1P CDG syndrome type Ip CDG-Ip CDG-Ip CDG-Ip CDG-Ip CDG-Syndrom Typ 1p CDG1P CDG1P CDG1P CDG1P CDG1P CDG1P Carbohydrate deficient glycoprotein syndrome type Ip Congenital disorder of glycosylation type 1p Congenital disorder of glycosylation type Ip Disturbo congenito della glicosilazione, tipo 1p Disturbo congenito della glicosilazione, tipo Ip Doença congénita de glicosilação tipo 1p Doença congénita de glicosilação tipo Ip Glykosylierungs-Krankheit, kongenitale, Typ Ip Kohlenhydrat-defizientes Glykoprotein-Syndrom Typ 1p Sindrome CDG, tipo 1P Sindrome CDG, tipo Ip Sindrome da glicoproteine carenti in carboidrati, tipo Ip Syndrome CDG type 1p Syndrome CDG type Ip Syndrome des glycoprotéines déficientes en hydrates de carbone Ip Síndrome CDG tipo 1P Síndrome CDG tipo Ip Síndrome de CDG tipo 1P Síndrome de glicoproteina deficiente em carbohidratos tipo Ip Síndrome de glicoproteínas deficientes en carbohidratos tipo Ip Trastorno congénito de la glicosilación tipo 1p Trastorno congénito de la glicosilación tipo Ip ALG11-CDG syndrome CDG-Syndrom Typ Ip Sindrome ALG11-CDG Syndrome ALG11-CDG Síndrome ALG11-CDG Síndrome de CDG tipo Ip hrdo:pat_id_20428 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 602080 neant M88 280110 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Doença de Paget do osso Osteite deformante Osteitis deformans Osteodystrophia deformans Osteíte deformante Osteítis deformante Ostéite déformante hypertrophiante Ostéite déformante hypertrophique Paget's disease of bone Paget-Krankheit Doença de Paget do osso Enfermedad ósea de Paget Maladie de Paget des os Malattia ossea di Paget Paget disease of bone Paget-Syndrom hrdo:pat_id_2043 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 222448 C536390 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Diaphragmatic+hernia%5Bmajr%5D+exomphalos+AND+corpus+callosum/ab%5Bmajr%5D Q87.8 2143 C1857277 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 DBS/FOAR syndrome DBS/FOAR-Syndrom Donnai-Barrow, síndrome de FOAR syndrome FOAR-Syndrom Facio-oculo-acoustico-renal syndrome Fazio-okulo-akustiko-renales Syndrom Holmes-Schepens syndrome Holmes-Schepens-Syndrom Sindrome DBS/FOAR Sindrome FOAR Sindrome di Holmes-Schepens Sindrome facio-oculo-acustico-renale Syndrome DBS/FOAR Syndrome FOAR Syndrome de Holmes-Schepens Syndrome facio-oculo-acoustico-rénal Síndrome DBS/FOAR Síndrome FOAR Síndrome de Donnai-Barrow Síndrome de Holmes-Schepens Síndrome facio-oculo-acústico-renal Donnai-Barrow syndrome Donnai-Barrow-Syndrom Hérnia diafragmática - onfalocelo - agenesia do corpo caloso Sindrome di Donnai-Barrow Syndrome de Donnai-Barrow Síndrome de Donnai-Barrow hrdo:pat_id_20430 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 613779 neant D84.1 280133 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 C3 deficiency C3-Mangel Deficit di C3 Deficiência C3 Déficit de C3 Déficit en C3 Complement component 3 deficiency Deficit della componente 3 del complemento Deficiência do componente 3 do complemento Déficit del componente 3 del complemento Déficit en complément 3 Komplement-Komponente 3-Mangel hrdo:pat_id_20431 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant D81.1 280142 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo etiological subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Déficit immunitaire combiné sévère dû au déficit en tyrosine kinase spécique des lymphocytes IDCG por déficit de LCK IDCG por déficit de la proteína tirosina quinasa específica de linfocitos Immunodeficienza combinata grave da deficit della tirosina chinasi specifica dei linfociti Imunodeficiência combinada grave por deficiência de proteína tirosina quinase específica de linfócitos Inmunodeficiencia combinada grave por déficit de la proteína tirosina quinasa específica de linfocitos SCID da deficit della tirosina chinasi specifica dei linfociti SCID da deficit di LCK SCID due to LCK deficiency SCID due to lymphocyte-specific protein tyrosine kinase deficiency SCID durch LCK-Mangel SCID durch Leukozyten-spezifischen Protein-Tyrosin-Kinase-Mangel SCID dû au déficit en LCK SCID dû au déficit en tyrosine kinase spécique des lymphocytes SCID por deficiência de LCK SCID por deficiência de proteína tirosina quinase específica dos linfócitos Severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency Déficit immunitaire combiné sévère dû au déficit en LCK Immundefekt, kombinierter schwerer, durch LCK-Mangel Immunodeficienza combinata grave da deficit di LCK Imunodeficiência combinada grave por deficiência de LCK Inmunodeficiencia combinada grave por déficit de LCK Severe combined immunodeficiency due to LCK deficiency hrdo:pat_id_20433 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613646 neant E71.1 280183 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo biological anomaly <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acidemia metilmalonica, tipo TCb1R Acidemia metilmalonica, tipo TCbIR Acidemia metilmalónica, tipo TCb1R Acidemia metilmalónica, tipo TCbIR Acidémia metilmalónica, tipo TCb1R Acidémia metilmalónica, tipo TCbIR Acidémie méthylmalonique type TCb1R Methylmalonazidurie Typ TCb1R Methylmalonazidämie Typ TCb1R Methylmalonic acidemia, TCb1R type Methylmalonic acidemia, TCbIR type Aciduria metilmalonica da difetto del recettore della transcobalamina Aciduria metilmalónica por defectos del receptor de la transcobalamina Aciduria metilmalónica por deficiência do receptor da transcobalamina Acidurie méthylmalonique due à un défaut du récepteur de la transcobalamine Methylmalonazidurie durch Transcobalamin-Rezeptor-Defekt Methylmalonic aciduria due to transcobalamin receptor defect hrdo:pat_id_20435 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 236100 neant Q04.2 280195 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown HPE septo-pre-optica HPE septo-préoptique HPE septopreóptica HPE setto-preottica HPE, septopräoptische Septopreoptic HPE Holoprosencefalia septo-pre-optica Holoprosencefalia septopreóptica Holoprosencéphalie septo-préoptique Holoprosenzephalie, septopräoptische Oloprosencefalia setto-preottica Septopreoptic holoprosencephaly hrdo:pat_id_20436 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 236100 neant Q04.2 280200 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel clinical subtype 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 HPE microforma HPE microforma HPE microforma HPE microforme HPE, mikroforme Microform HPE Holoprosencefalia microforma Holoprosencefalia microforma Holoprosencéphalie microforme Holoprosenzephalie, mikroforme Microform holoprosencephaly Oloprosencefalia microforma hrdo:pat_id_20437 neant Q32.1 280205 clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown LTEC0 LTEC0 LTEC0 LTEC0 LTEC0 LTECO Fenda laringo-traqueo-esofágica tipo 0 Fente laryngo-trachéo-oesophagienne type 0 Hendidura laringo-traqueo-esofágica, tipo 0 Laryngo-tracheo-esophageal cleft type 0 Laryngo-tracheo-ösophageale Spalte Typ 0 Schisi laringo-tracheo-esofagea, tipo 0 hrdo:pat_id_20438 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant E75.2 280210 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Doença de Pelizaeus-Merzbacher neonatal, tipo II Enfermedad de Pelizaeus-Merzbacher connatal tipo II Maladie de Pelizaeus-Merzbacher, type II Malattia di Pelizaeus-Merzbacher, tipo II connatale PMD connatal PMD connatale PMD grave PMD grave PMD grave PMD neonatal PMD néonatale PMD sévère PMD, konnataler Typ PMD, schwere Form Pelizaeus-Merzbacher-Krankheit, kongenitale Form, Type II Type II connatal Pelizaeus-Merzbacher disease connatal PMD severe PMD Doença de Pelizaeus-Merzbacher, forma neonatal Enfermedad de Pelizaeus-Merzbacher, forma connatal Maladie de Pelizaeus-Merzbacher, forme néonatale Malattia di Pelizaeus-Merzbacher, forma connatale Pelizaeus-Merzbacher disease, connatal form Pelizaeus-Merzbacher-Krankheit, konnataler Typ hrdo:pat_id_20439 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant E75.2 280219 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive clinical subtype 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 PMD classica PMD classique PMD clásica PMD clássica PMD, klassischer Typ classic PMD Doença de Pelizaeus-Merzbacher, forma clássica Enfermedad de Pelizaeus-Merzbacher, forma clásica Maladie de Pelizaeus-Merzbacher, forme classique Malattia di Pelizaeus-Merzbacher, forma classica Pelizaeus-Merzbacher disease, classic form Pelizaeus-Merzbacher-Krankheit, klassischer Typ hrdo:pat_id_2044 neant Q75.0 2145 malformation syndrome Craneosinostosis de Herrmann-Opitz Craniossinostose tipo Herrmann-Opitz Kraniosynostose Typ Herrmann-Opitz Craneosinostosis, tipo Herrmann-Opitz Craniosinostosi di Herrmann-Opitz Craniossinostose de Herrmann-Opitz Craniosynostose de Herrmann-Opitz Craniosynostosis, Herrmann-Opitz type Herrmann-Opitz Kraniosynostose hrdo:pat_id_20440 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant E75.2 280224 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 PMD transitoire PMD transitoria PMD transitoria PMD transitória PMD, intermediärer Typ Transitional PMD Doença de Pelizaeus-Merzbacher, forma transitória Enfermedad de Pelizaeus-Merzbacher, forma transitoria Maladie de Pelizaeus-Merzbacher, forme transitoire Malattia di Pelizaeus-Merzbacher, forma transitoria Pelizaeus-Merzbacher disease, transitional form Pelizaeus-Merzbacher-Krankheit, transitionaler Typ hrdo:pat_id_20441 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant E75.2 280229 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Doença de Pelizaeus-Merzbacher em portadores do sexo feminino Enfermedad de Pelizaeus-Merzbacher en mujeres portadoras Maladie de Pelizaeus-Merzbacher chez les femmes porteuses Malattia di Pelizaeus-Merzbacher nelle donne portatrici Pelizaeus-Merzbacher disease in female carriers Pelizaeus-Merzbacher-Krankheit in weiblichen Anlageträgerinnen hrdo:pat_id_20442 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant E75.2 280234 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Doença de Pelizaeus-Merzbacher, síndrome 'null' Enfermedad de Pelizaeus-Merzbacher , síndrome nulo Malattia di Pelizaeus-Merzbacher, sindrome null PLP1 null syndrome PLP1-Null-Syndrom Pelizaeus-Merzbacher disease, null syndrome Pelizaeus-Merzbacher-Krankheit, null-Form Sindrome PLP1-null Síndrome 'null' PLP1 Síndrome nulo PLP1 Maladie de Pelizaeus-Merzbacher, mutation non-sens de PLP1 Null syndrome Null-Syndrom Sindrome null Síndrome 'null' Síndrome nulo hrdo:pat_id_20445 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant E75.2 280270 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown PMLD PMLD PMLD PMLD PMLD PMLD Doença Pelizaeus-Merzbacher-like Enfermedad tipo Pelizaeus-Merzbacher Maladie de Pelizaeus-Merzbacher-like Malattia Pelizaeus-Merzbacher-simile Pelizaeus-Merzbacher-like disease Pelizaeus-Merzbacher-ähnliche Krankheit hrdo:pat_id_20446 280275 group of phenomes Doença rara Enfermedad rara Maladie rare Malattia rara Rare disease Seltene Krankheit hrdo:pat_id_20447 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 608804 neant E75.2 280282 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown PMLD PMLD1 PMLD1 PMLD1 PMLD1 PMLD1 Doença de Pelizaeus-Merzbacher-like por mutação em GJC2 Enfermedad tipo Pelizaeus-Merzbacher debida a mutación en GJC2 Pelizaeus-Merzbacher-like due to GJC2 mutation Pelizaeus-Merzbacher-like due à une mutation de GJC2 Pelizaeus-Merzbacher-simile da mutazione di GJC2 Pelizaeus-Merzbacher-ähnliche Krankheit mit GJC2-Genmutationen hrdo:pat_id_20448 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 612233 neant E75.2 280288 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Chaperonopathie mitochondriale HSP60 Chaperonopatia HSP60 mitocondrial Chaperonopatia mitocondriale HSP60 Chaperonopatía mitocondrial HSP60 Hsp60-Chaperonopathie, mitochondriale Mitochondrial HSP60 chaperonopathy Doença de Pelizaeus-Merzbacher-like por mutação em HSPD1 Enfermedad tipo Pelizaeus-Merzbacher debida a mutación en HSPD1 Pelizaeus-Merzbacher-like due to HSPD1 mutation Pelizaeus-Merzbacher-like due à une mutation de HSPD1 Pelizaeus-Merzbacher-simile da mutazione di HSPD1 Pelizaeus-Merzbacher-ähnliche Krankheit mit HSPD1-Genmutationen hrdo:pat_id_20449 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 260600 neant E75.2 280293 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Doença de Pelizaeus-Merzbacher-like por mutação em AIMP1 Enfermedad tipo Pelizaeus-Merzbacher debida a una mutación en AIMP1 Pelizaeus-Merzbacher-like due to AIMP1 mutation Pelizaeus-Merzbacher-like due à une mutation de AIMP1 Pelizaeus-Merzbacher-simile da mutazioe di AIMP1 Pelizaeus-Merzbacher-ähnliche Krankheit mit AIMP1-Genmutationen hrdo:pat_id_20451 280299 group of phenomes Condition rare Doença rara Malattia rara Rare disorder Seltene Erkrankung Trastorno raro hrdo:pat_id_20452 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant K86.1 280302 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch histopathological subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown AIP Typ 1 AIP tipo 1 AIP tipo 1 AIP type 1 AIP type 1 AIP, tipo 1 Lymphoplasmacytic sclerosing pancreatitis Pancreatite esclerosante linfoplasmocítica Pancreatite sclerosante linfoplasmacitica Pancreatitis esclerosante linfoplasmocitaria Pancréatite sclérosante lymphoplasmocytaire Pankreatitis, lymphoplasmozytäre sklerosierende Autoimmune pancreatitis type 1 Pancreatite autoimmune, tipo 1 Pancreatite autoimune 1 Pancreatitis autoinmune tipo 1 Pancréatite auto-immune type 1 Pankreatitis, autoimmune, Typ 1 hrdo:pat_id_20453 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant K86.1 280315 histopathological subtype AIP Typ 2 AIP tipo 2 AIP type 2 AIP type 2 AIP, tipo 2 Duct-centric pancreatitis PAI tipo 2 Pancreatite dottocentrica Pancreatite ducto-cêntrica Pancreatitis ducto-céntrica Pancréatite centro-canalaire Pankreatitis, gangzentrierte Autoimmune pancreatitis type 2 Pancreatite autoimmune, tipo 2 Pancreatite autoimune tipo 2 Pancreatitis autoinmune tipo 2 Pancréatite auto-immune type 2 Pankreatitis, autoimmune, Typ 2 hrdo:pat_id_20454 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q93.5 280325 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 12p13.33 microdeletion syndrome Del(12)(p13.33) Del(12)(p13.33) Deleción distal 12p Deletion 12p Delezione distale 12p Deleção distal 12p Distal deletion 12p Délétion distale 12p Syndrome de microdélétion 12p13.33 Distal monosomy 12p Monosomia distale 12p Monosomie 12p Monosomie distale 12p Monosomía distal 12p Monossomia distal 12p hrdo:pat_id_20455 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 613818 neant G71.0 280333 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 MDDGC7 MDDGC7 MDDGC7 MDDGC7 MDDGC7 MDDGC7 Autosomal recessive limb-girdle muscular dystrophy - dystroglycanopathy type C7 Distrofia muscolare dei cingoli autosomica recessiva - distroglicanopatia tipo C7 Distrofia muscular das cinturas autossómica recessiva - distroglicanopatia tipo C7 Distrofia muscular de cinturas autosómica recesiva - distroglicanopatia tipo C7 Dystrophie musculaire des ceintures autosomique récessive - dystroglycanopathie type C7 Gliedergürtelmuskeldystrophie, autosomal-rezessive - Dystroglykanopathie Typ C7 hrdo:pat_id_20456 280342 group of phenomes Doença reumatológica rara da infância Enfermedad reumatológica rara de la infancia Maladie rhumatologique rare de l'enfant Malattia reumatologica rara dell'infanzia Rare rheumatological disease of childhood Seltene rheumatologische Krankheit der Kindheit hrdo:pat_id_20458 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 613877 neant E88.1 280356 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Familial partial lipodystrophy associated with PLIN1 mutations Lipodistrofia familiar parcial asociada a mutaciones en PLIN1 Lipodistrofia parcial familiar associada a mutações em PLIN1 Lipodistrofia parziale familiare associata a mutazioni di PLIN1 Lipodystrophie partielle familiale associée à des mutations de PLIN1 Lipodystrophie, familiäre partielle, mit assoziierten PLIN1-Genmutationen hrdo:pat_id_2046 Variabel Variabile Variable Variable Variable Variable Variável 300049 608097 608098 612881 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=nodular%5Bti%5D+heterotop*%5Bti%5D Q04.8 2149 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Eterotopia neuronale nodulare Heterotopia nodular hereditaria Heterotopia nodular hereditária Heterotopie, neuronale noduläre Hétérotopie neuronale nodulaire Nodular neuronal heterotopia hrdo:pat_id_20460 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant E88.1 280365 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Autosomal codominant severe lipodystrophic laminopathy Laminopathie lipodystrophique sévère autosomique codominante Laminopathie, lipodystrophe schwere, autosomal-kodominant Laminopatia lipodistrofica grave autosomica codominante Laminopatia lipodistrófica grave Laminopatía lipodistrófica grave concominante autosómica hrdo:pat_id_20461 280369 group of phenomes Pediatric vasculitis Pediatric vasculitis Pediatric vasculitis Pediatric vasculitis Pediatric vasculitis Vascularite de l'enfant hrdo:pat_id_20462 280373 group of phenomes Maladie systémique de l'enfant Pediatric systemic disease Pediatric systemic disease Pediatric systemic disease Pediatric systemic disease Pediatric systemic disease hrdo:pat_id_20463 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant E80.2 280379 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Erythropoietic uroporphyria associated with myeloid malignancy Uroporfiria eritropoietica associata a tumore maligno mieloide Uroporfiria eritropoiética associada a malignidade mielóide Uroporfiria eritropoyética asociada a neoplasias mieloides Uroporphyrie érythropoïétique associée à une tumeur maligne myéloïde Uroporphyrie, erythropoetische, mit assoziierter myeloischer Neoplasie hrdo:pat_id_20465 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 280384 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Déficience intellectuelle récessive - dysfonctionnement moteur - ontractures articulaires multiples IDMDC IDMDC IDMDC IDMDC IDMDC IDMDC Atraso mental recessivo - disfunção motora - múltiplas contraturas articulares Deficit cognitivo recessivo - disfunzione motoria - contratture articolari multiple Discapacidad intelectual recesiva - disfunción motora - contracturas articulares múltiples Déficit intellectuel récessif - dysfonctionnement moteur - contractures articulaires multiples Intelligenzminderung - motorische Dysfunktion - multiple Gelenkkontrakturen, rezessiv Recessive intellectual disability - motor dysfunction - multiple joint contractures hrdo:pat_id_20467 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant A81.8 280397 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Maladie à prion familiale Alzheimer-like Alzheimer-ähnliche familiäre Prionkrankheit Doença priónica familiar, Alzheimer-like Enfermedad priónica familiar tipo Alzheimer Familial Alzheimer-like prion disease Maladie à prion familiale type Alzheimer Malattia familiare da prioni Alzheimer-simile hrdo:pat_id_20468 neant A81.8 280400 group of phenomes Doença priónica familiar Enfermedad priónica familiar Familial prion disease Maladie à prions familiale Malattia familiare da prioni Prionerkrankung, familiäre Doença priónica hereditária Enfermedad priónica hereditaria Inherited prion disease Maladie à prion héréditaire Malattia ereditaria da prioni Prionkrankheit, hereditäre hrdo:pat_id_20469 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 280403 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Familial omphalocele syndrome with facial dysmorphism Sindrome onfalocele familiare-dismorfismi facciali Syndrom der Omphalozele mit Gesichtsdysmorphien, familiäre Form Syndrome omphalocèle familial avec dysmorphie faciale Síndrome de onfalocele familiar con dismorfismo facial Síndrome omfalocelo familiar com dismorfias faciais hrdo:pat_id_2047 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300067 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Lissencephaly%5Btw%5D+AND+doublecortin%5Btw%5D%29+OR+%28subcortical%5Btw%5D+AND+laminar%5Btw%5D+AND+heterotopia%5BTW%5D%29 Q04.3 2148 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Lisencefalia tipo 1 ligada ao X Lisencefalia, tipo 1, ligada al X Lissencefalia, tipo 1, legata all'X Lissencéphalie type 1 liée à l'X Lissenzephalie Typ 1, X-chromosomale X-linked lissencephaly type 1 Lisencefalia tipo 1, por mutação no gene da doublecortina (DCX) Lisencefalia, tipo 1, debida a mutación en el gen de la doblecortina (DCX) Lissencefalia, tipo 1, da mutazione del gene doublecortin (DCX) Lissencephaly type 1 due to doublecortin gene mutation Lissencéphalie type 1 due aux anomalies du gène double-cortine Lissenzephalie Typ 1 mit Doublecortin(DCX)-Genmutation hrdo:pat_id_20470 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614650 neant N04 280406 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Familial steroid-resistant nephrotic syndrome with sensorineural deafness Nephrotisches Syndrom, steroid-resistentes, mit sensorineuraler Hörstörung, familiäre Form Sindrome nefrosica steroido-resistente familiare con sordità neurosensoriale Syndrome néphrotique familial cortico-résistant avec surdité neurosensorielle Síndrome nefrótico familiar resistente a esteroides con sordera neurosensorial Síndrome nefrótico familiar resistente aos esteróides, com surdez neurossensorial hrdo:pat_id_20472 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613869 neant G71.2 280553 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Alpha-B crystallin-related myofibrillar myopathy Miopatia miofibrilar relacionada com cristalino alfa-B Miopatia miofibrillare legata all'alfa-B cristallina Miopatía miofibrilar ligada al alfa-B-cristalina Myofibrilläre Myopathie, alpha-B-Crystallin-assoziierte Myopathie myofibrillaire liée à l'alpha-B-cristalline Fatal infantile hypertonic myofibrillar myopathy Miopatia miofibrilar hipertónica fatal, do latente Miopatia miofibrillare ipertonica infantile fatale Miopatía miofibrilar hipertónica infantil fatal Myopathie myofibrillaire hypertonique infantile fatale Myopathie, fatale myofibrilläre, des Kindes hrdo:pat_id_20473 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613398 neant 280558 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 WABS WABS WABS WABS WABS WABS Sindrome da rotture cromosomiche di Varsavia Syndrome de cassure chromosomique de Varsovie Síndrome de quebras de Varsóvia Síndrome de rotura cromosómica de Varsovia Warsaw breakage syndrome Warsaw-Breakage-Syndrom hrdo:pat_id_20475 Variabel Variabile Variable Variable Variable Variable Variável neant N01 280569 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Crescentic glomerulonephritis GNRP Glomerulonefrite a semilune Glomerulonefrite crescêntica Glomerulonefritis creciente Glomerulonephritis, sichelförmige Glomérulonéphrite à croissants RPGN RPGN RPGN RPGN RPGN Glomerulonefrite a progressione rapida Glomerulonefrite rapidamente progressiva Glomerulonefritis rápidamente progresiva Glomerulonephritis, rapid-progressive Glomérulonéphrite rapidement progressive Rapidly progressive glomerulonephritis hrdo:pat_id_20476 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 614008 neant E34.8 280576 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 NGPS NGPS NGPS NGPS NGPS NGPS Nestor-Guillermo progeria syndrome Nestor-Guillermo-Progerie-Syndrom Progeria de Nestor-Guillermo Progeria sindromica di Nestor-Guillermo Síndrome de progeria de Néstor-Guillermo Síndrome progeria de Nestor-Guillermo hrdo:pat_id_20478 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614078 neant 280586 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficit di gPAPP Deficiência de gPAPP Déficit de gPAPP Déficit en gPAPP gPAPP deficiency gPAPP-Mangel Chondrodysplasia with joint dislocations, gPAPP type Chondrodysplasie avec luxation articulaire, type gPAPP Chondrodysplasie mit Gelenkkontrakturen, gPAPP-Typ Condrodisplasia com luxações articulares, tipo gPAPP Condrodisplasia con dislocaciones articulares, tipo gPAPP Condrodisplasia con dislocazioni articolari, tipo gPAPP hrdo:pat_id_20480 Variabel Variabile Variable Variable Variable Variable Variável neant G60.0 280598 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hereditary sensorimotor neuropathy with hyperelastic skin Neuropathie sensorimotrice héréditaire avec hyperélastcité de la peau Neuropatia sensitivomotora hereditária com pele hiperelástica Neuropatia sensitivomotoria ereditaria con iperelasticità cutanea Neuropatía sensoriomotora hereditaria con piel hiperelástica Sensorimotorische Neuropathie mit hyperelastischer Haut, hereditäre Form hrdo:pat_id_20481 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613977 neant D58.2 280615 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cianose neonatal transitória e anemia por hemoglobina Toms River Cianosi e anemia neonatali transitorie da emoglobina Toms River Cianosis neonatal transitoria y anemia debida a hemoglobina Toms River Cyanose et anémie néonatale transitoire due à l'hémoglobine Toms River Transient neonatal cyanosis and anemia due to Toms River Hemoglobin Transiente neonatal Zyanose mit Anämie durch Toms River Hämoglobin Emoglobinopatia Toms River Hemoglobinopathy Toms River Hemoglobinopatia de Toms River Hemoglobinopatía Toms River Hämoglobinopathie Toms River Hémoglobinopathie Toms River hrdo:pat_id_20482 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 614018 neant G40.3 280620 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Epilepsia mioclónica progresiva tipo 6 Epilepsia mioclónica progressiva tipo 6 Epilepsie myoclonique progressive type 6 Epilessia mioclonica progressiva, tipo 6 Myoklonusepilepsie, progressive, Typ 6 Progressive myoclonic epilepsy type 6 hrdo:pat_id_20484 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant L81.8 280628 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 FPHH FPHH FPHH FPHH FPHH FPHH Familial progressive hyper- and hypopigmentation Hiper e hipopigmentación progresiva familiar Hiper- e hipopigmentação progressiva familiar Hyper et hypopigmentation progressive familiale Hyper- und Hypopigmentation, familiäre progressive Iper- e ipopigmentazione progressiva familiare hrdo:pat_id_20486 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614080 neant Q87.8 280633 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anomalie congenite multiple - ipotonia - epilessia Anomalies congénitales multiples - hypotonie - épilepsie Multiple congenital anomalies - hypotonia - seizures syndrome Syndrom der multiplen kongenitalen Anomalien mit Hypotonie und Krämpfen Síndrome anomalias congénitas múltiplas - hipotonia - convulsões Síndrome de anomalías congénitas múltiples - hipotonía - epilepsia hrdo:pat_id_20488 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614115 neant Q04.3 280640 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 MCD occipital MCD occipital MCD occipital MCD occipitale MCD, okzipitale Malformaciones occipitales del desarrollo cortical Malformation occipitale du développement cortical Malformazioni occipitali dello sviluppo corticale Malformações occipitais do desenvolvimento cortical Occipital MCD Occipital malformations of cortical development Okzipitale Fehlbildungen der kortikalen Entwicklung Occipital pachygyria and polymicrogyria Okzipitale Pachygyrie und Polymikrogyri Pachigiria e polimicrogiria occipitali Pachygyrie et polymicrogyrie occipitales Paquigiria occipital e polimicrogiria Paquigiria y polimicrogiria occipital hrdo:pat_id_2049 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 142690 613736 613737 D017497 10020041 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22hidradenitis+suppurativa%22%5BMeSH+Terms%5D+OR+%28hidradenitis+suppurativa%5BText+Word%5D+NOT+medline%5Bsb%5D%29 L73.2 387 59393003 C0162836 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 'Malattia ''tana di volpe''' Acne ectopica Acne inversa Acne inversa Acne inversa Acné ectopique Acné ectópico Acné inverso Akne inversa Aknetriade Doença de Verneuil Ectopic acne Enfermedad de Fox-Den Fox den disease Hidradenitis suppurativa Hidrosadénite suppurée Maladie de Verneuil Malattia di Verneuil Pioderma fistulans significa Pyoderma fistulans significa Pyoderma fistulans significa Pyoderma fistulans significa Verneuil disease Verneuil, doença de Verneuil, enfermedad de Verneuil-Krankheit Hidradenite supurativa Hidradenitis suppurativa Hidradenitis suppurativa Hidradenitis supurativa Hidradénite suppurée Idroadenite suppurativa hrdo:pat_id_20490 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 101800 614613 neant Q75.4 280651 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acrodisostose com resitências hormonais múltiplas Acrodisostosi con resistenza multipla agli ormoni Acrodisostosis con resistencia múltiple a hormonas Acrodysostose avec résistance multiple aux hormones Acrodysostosis with multiple hormone resistance Akrodysostose mit multipler Hormonresistenz hrdo:pat_id_20491 614157 neant Q84.6 280654 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Autosomal recessive nail dysplasia Displasia das unhas, autossómica recessiva Displasia de las uñas autosómica recesiva Displasia ungueale autosomica recessiva Dysplasie des ongles autosomique récessive Nageldysplasie, autosomal-rezessive hrdo:pat_id_20493 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614171 neant E70.3 280663 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 HPS9 HPS9 HPS9 HPS9 HPS9 HPS9 SHP9 Hermansky-Pudlak syndrome type 9 Hermansky-Pudlak-Syndrom Typ 9 Sindrome di Hermansky-Pudlak, tipo 9 Syndrome d'Hermansky-Pudlak type 9 Síndrome de Hermansky-Pudlak tipo 9 Síndrome de Hermansky-Pudlak tipo 9 hrdo:pat_id_20495 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 602541 neant G71.2 280671 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Congenital muscular dystrophy due to phosphatidyl choline biosynthesis defect Distrofia muscolare cogenita da difetto della biosintesi della fosfatidilcolina Distrofia muscular congénita debida a un defecto de biosíntesis de fosfatidilcolina Distrofia muscular congénita por deficiência na biossíntese de fosfatidil-colina Dystrophie musculaire congénitale due à un défaut de la biosynthèse de phosphatidyl choline Muskeldystrophie, kongenitale, durch Phosphatidylcholin-Biosynthesestörung hrdo:pat_id_20497 Variabel Variabile Variable Variable Variable Variable Variável 300845 neant 280679 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Enfermedad de Moyamoya sindrómica Malattia di Moyamoya sindromica Moya-Moya syndromique Moyamoya-Krankheit, syndromal Syndromic Moyamoya disease Doença de moyamoya - baixa estatura - dismorfias faciais - hipogonadismo hipergonadotrófico Enfermedad de Moyamoya - estatura baja - dismorfismo facial - hipogonadismo hipergonadotrópico Maladie de Moyamoya - petite taille - dysmorphie faciale - hypogonadisme hypergonadotrope Malattia di Moyamoya - bassa statura - dismorfismi facciali - ipogonadismo ipergonadotropo Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism Moyamoya-Krankheit - Kleinwuchs - Gesichtsdysmorphien - hypergonadotroper Hypogonadismus hrdo:pat_id_20498 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 612936 613744 614066 614067 neant 280763 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 AP4 deficiency syndrome AP4-Mangel-Syndrom Paraplégie spastique autosomique récessive type 47 Paraplégie spastique autosomique récessive type 50 Paraplégie spastique autosomique récessive type 51 Paraplégie spastique autosomique récessive type 52 SPG47 SPG50 SPG51 SPG52 Sindrome da deficit di AP4 Syndrome de déficit en AP4 Síndrome de deficiência de AP4 Síndrome de déficit de AP4 Atraso mental grave e paraparésia espástica progressiva Deficit cognitivo grave e paraplegia spastica progressiva Déficit intelectual grave y paraplejía espástica progresiva Déficit intellectuel sévère et paraplégie spastique progressive Intelligenzminderung, schwere, mit progressiver spastischer Paraplegie Severe intellectual deficit and progressive spastic paraplegia hrdo:pat_id_20499 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 280774 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown GET GET GET GET GET TEG Generalized essential telangiectasia Telangectasia essenziale generalizzata Telangiectasia esencial generalizada Telangiectasia essencial generalizada Telangiektasie, essentielle generalisierte Télangiectasie essentielle généralisée hrdo:pat_id_205 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 135100 D009221 10068715 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=fibrodysplasia+ossificans+progressiva%5Btw%5D+OR+Myositis+ossificans+progressiva%5Btw%5D M61.1 337 82725007 C0016037 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Enfermedad del hombre de piedra FOP FOP FOP FOP FOP Maladie de l'homme de pierre Malattia dell'uomo di pietra Man of stone Miosite ossificante progressiva Miosite ossificante progressiva Miositis osificante progresiva Myosite ossifiante progressive Myositis ossificans progressiva Myositis ossificans progressiva Münchmeyer-Syndrom Fibrodisplasia osificante progresiva Fibrodisplasia ossificante progressiva Fibrodisplasia ossificante progressiva Fibrodysplasia ossificans progressiva Fibrodysplasia ossificans progressiva Fibrodysplasie ossifiante progressive hrdo:pat_id_2050 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 306980 C538319 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Hirschsprung%5Bti%5D+OR+hirschsprung+disease%5Bmh%5D%29+%28Nails%2C+malformed+OR+brachydactyl*%29 Q43.1 2150 C1844017 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Brachidattialia di Hirschsprung Braquidactilia de Hirschsprung Doença de Hirschsprung - braquidactilia tipo D Hirschsprung - brachydactylie type D Hirschsprung disease - type D brachydactyly Hirschsprung-Krankheit Typ D - Brachydaktylie hrdo:pat_id_20500 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 280779 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CCV CCV CCV CCV CCV VCC VCC Cutaneous collagenous vasculopathy Vasculopathie cutanée collagène Vasculopatia colagenosa cutânea Vasculopatia collagena cutanea Vasculopatía colágena cutánea Vaskulopathie, kutane kollagenöse hrdo:pat_id_20501 neant Q82.2 280785 clinical subtype Bullous DCM DCM bolhosa DCM bollosa DCM bulleuse DCM, bullöse MCD ampollosa Bullous diffuse cutaneous mastocytosis Mastocitose cutânea difusa bolhosa Mastocitosi cutanea diffusa bollosa Mastocitosis cutánea difusa ampollosa Mastocytose cutanée diffuse bulleuse Mastozytose, bullöse diffuse kutane hrdo:pat_id_20502 neant Q82.2 280794 clinical subtype DCM pseudo-xanthomateuse DCM pseudoxantomatosa DCM pseudoxantomatosa DCM, pseudoxanthomatöse MCD pseudoxantomatosa Pseudoxanthomatous DCM Kutane Mastozytose, diffuse pseudoxanthomatöse Mastocitose cutânea difusa pseudoxantomatosa Mastocitosi cutanea diffusa pseudoxantomatosa Mastocitosis cutánea difusa pseudoxantomatosa Mastocytose cutanée diffuse pseudo-xanthomateuse Pseudoxanthomatous diffuse cutaneous mastocytosis hrdo:pat_id_20503 neant Q33.2 280802 clinical subtype Bronchopulmonale Sequestration, intralobäre kongenitale Congenital intrapulmonary sequestration Intralobar congenital bronchopulmonary sequestration Secuestro broncopulmonar congénito intralobar Secuestro intrapulmonar congénito Sequestro broncopolmonare intralobare congenito Sequestro broncopulmonar congénito intralobar Sequestro intrapolmonare congenito Sequestro intrapulmonar congénito Séquestration bronchopulmonaire congénitale intralobaire Séquestration intrapulmonaire congénitale Intralobar congenital pulmonary sequestration Lungensequestration, intralobäre kongenitale Secuestro pulmonar congénito intralobar Sequestro polmonare intralobare congenito Sequestro pulmonar congénito intralobar Séquestration pulmonaire congénitale intralobaire hrdo:pat_id_20504 neant Q33.2 280811 clinical subtype Bronchopulmonale Sequestration, extralobäre kongenitale Congenital extrapulmonary sequestration Extralobar congenital bronchopulmonary sequestration Secuestro broncopulmonar congénito extralobar Secuestro extrapulmonar congénito Sequestro broncopolmonare extralobare congenito Sequestro broncopulmonar congénito extralobar Sequestro extrapolmonare congenito Sequestro extrapulmonar congénito Séquestration bronchopulmonaire congénitale extralobaire Séquestration extrapulmonaire congénitale Extralobar congenital pulmonary sequestration Lungensequestration, extralobäre kongenitale Secuestro pulmonar congénito extralobar Sequestro polmonare extralobare congenito Sequestro pulmonar congénito extralobar Séquestration pulmonaire congénitale extralobaire hrdo:pat_id_20505 neant Q33.2 280821 clinical subtype Communicating congenital bronchopulmonary-foregut malformation Kommunizierende kongenitale bronchopulmonale Missbildung des Vorderdarms Malformación congénita broncopulmonar comunicante con el intestino anterior Malformation congénitale broncho-pulmonaire communiquant avec l'intestin antérieur Malformazione broncopolmonare congenita comunicante con l'intestino anteriore Malformação congénita de comunicação broncopulmonar-digestiva hrdo:pat_id_20506 neant Q33.0 280827 clinical subtype CPAM Typ 0 CPAM tipo 0 CPAM type 0 CPAM type 0 CPAM, tipo 0 Congenital pulmonary airway malformation, type 0 Lungenwegsfehlbildung, kongenitale, Typ 0 Malformación congénita de las vías aéreas pulmonares, tipo 0 Malformation congénitale des voies aériennes pulmonaires, type 0 Malformazione congenita delle vie aeree polmonari, tipo 0 Malformação congénita das vias aéreas pulmonares, tipo 0 hrdo:pat_id_20507 neant Q33.0 280832 clinical subtype CCAM tipo I CCAM type I CCAM, tipo I CPAM Typ 1 CPAM tipo 1 CPAM type 1 CPAM type 1 CPAM, tipo 1 Type I CCAM Congenital pulmonary airway malformation, type 1 Lungenwegsfehlbildung, kongenitale, Typ 1 Malformación congénita de las vías aéreas pulmonares, tipo 1 Malformation congénitale des voies aériennes pulmonaires, type 1 Malformazione congenita delle vie aeree polmonari, tipo 1 Malformação congénita das vias aéreas pulmonares, tipo 1 hrdo:pat_id_20508 neant Q33.0 280840 clinical subtype CCAM tipo II CCAM type II CCAM, tipo II CPAM Typ 2 CPAM tipo 2 CPAM type 2 CPAM type 2 CPAM, tipo 2 Type II CCAM Congenital pulmonary airway malformation, type 2 Lungenwegsfehlbildung, kongenitale, Typ 2 Malformación congénita de las vías aéreas pulmonares, tipo 2 Malformation congénitale des voies aériennes pulmonaires, type 2 Malformazione congenita delle vie aeree polmonari, tipo 2 Malformação congénita das vias aéreas pulmonares, tipo 2 hrdo:pat_id_20509 neant Q33.0 280847 clinical subtype CCAM tipo III CCAM type III CCAM, tipo III CPAM Typ 3 CPAM tipo 3 CPAM type 3 CPAM type 3 CPAM, tipo 3 Type III CCAM Congenital pulmonary airway malformation, type 3 Lungenwegsfehlbildung, kongenitale, Typ 3 Malformación congénita de las vías aéreas pulmonares, tipo 3 Malformation congénitale des voies aériennes pulmonaires, type 3 Malformazione congenita delle vie aeree polmonari, tipo 3 Malformação congénita das vias aéreas pulmonares, tipo 3 hrdo:pat_id_2051 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 235730 C536990 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Mowat+Wilson+syndrome+OR+%28Hirschsprung+AND+mental+retardation%5Btw%5D%29 Q43.1 2152 C1856113 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hirschsprung disease - intellectual deficit Maladie de Hirschsprung - déficit intellectuel Malattia di Hirschsprung - ritardo mentale Mowat-Wilson, síndrome de Síndrome de Hirschsprung - déficit intelectual Síndrome de Mowat-Wilson Mowat-Wilson syndrome Mowat-Wilson-Syndrom Sindrome di Mowat-Wilson Syndrome de Mowat-Wilson Síndrome de Hirschsprung - atraso mental Síndrome de Mowat-Wilson hrdo:pat_id_20510 neant Q33.0 280854 clinical subtype CPAM Typ 4 CPAM tipo 4 CPAM type 4 CPAM type 4 CPAM, tipo 4 Congenital pulmonary airway malformation, type 4 Lungenwegsfehlbildung, kongenitale, Typ 4 Malformación congénita de las vías aéreas pulmonares, tipo 4 Malformation congénitale des voies aériennes pulmonaires, type 4 Malformazione congenita delle vie aeree polmonari, tipo 4 Malformação congénita das vias aéreas pulmonares, tipo 4 hrdo:pat_id_20511 280879 group of phenomes Condición rara particular Rare particular clinical situation Seltene Ausnahme einer klinische Erscheinungsform Situation clinique particulière rare Situazione clinica particolare rara Situação clínica particular rara hrdo:pat_id_20512 280882 group of phenomes Condición rara sin designación huérfana Particolare situazione clinica rara senza designazione orfana Rare particular clinical situation without orphan designation Seltene klinische Erscheinungsform ohne Orphan-Designation Situation clinique particulière rare sans désignation orpheline Situação clínica rara sem designação orfã hrdo:pat_id_20513 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável neant H20 280886 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Iridociclite Iridociclite Iridociclitis Iridocyclite Iridocyclitis Iridozyklitis Anterior uveitis Uveite anteriore Uveitis, anteriore Uveíte anterior Uveítis anterior Uvéite antérieure hrdo:pat_id_20514 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável neant H30 280892 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Choroiditis Choroiditis Choroïdite Coroidite Coroidite Coroiditis Posterior uveitis Uveite posteriore Uveitis, posteriore Uveíte posterior Uveítis posterior Uvéite postérieure hrdo:pat_id_20515 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável neant H44.1 280898 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Total uveitis Uveite totale Uveitis, totale Uveíte total Uveítis total Uvéite totale Panuveite Panuveitis Panuveitis Panuveíte Panuveítis Panuvéite hrdo:pat_id_20516 neant H20 280914 disease Idiopathic anterior uveitis Uveite anteriore idiopatica Uveitis, anteriore, idiopathische Uveíte anterior idiopática Uveítis anterior idiopática Uvéite antérieure idiopathique hrdo:pat_id_20517 280917 disease Idiopathic posterior uveitis Uveite posteriore idiopatica Uveitis, posteriore, idiopathische Uveíte posterior idiopática Uveítis posterior idiopática Uvéite postérieure idiopathique hrdo:pat_id_20518 neant H44.1 280921 disease Idiopathic panuveitis Panuveite idiopatica Panuveitis, idiopathische Panuveíte idiopática Panuveítis idiopática Panuvéite idiopathique hrdo:pat_id_20519 280926 group of phenomes Doenças sistémicas com uveíte anterior Enfermedades sistémicas con uveítis anterior Maladies systémiques avec uvéite antérieure Malattie sistemiche con uveite anteriore Systemic diseases with anterior uveitis Systemische Krankheit mit anteriorer Uveitis hrdo:pat_id_2052 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 235760 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Hirschsprung+Nails%2C+malformed Q43.1 2153 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Al Gazali-Donnai-Mueller-Syndrom Al Gazali-Donnai-Muller syndrome Al Gazali-Donnai-Muller, síndrome de Al Gazali-Hirschsprung, síndrome de Al Gazali-Hirschsprung-Krankheit Enfermedad de Al Gazali-Hirschsprung Malattia di Al Gazali-Hirschsprung Sindrome di Al Gazali-Donnai-Muller Syndrome d'Al Gazali-Donnai-Muller Síndrome de Al Gazali-Donnai-Muller Síndrome de Al Gazali-Donnai-Muller Síndrome de Al Gazali-Hirschsprung Hirschsprung - hipoplasia de uñas - dismorfia Hirschsprung - hipoplasia ungueal - dismorfias Hirschsprung disease - nail hypoplasia - dysmorphism Hirschsprung-Krankheit - Nagelhypoplasie - Dysmorphien Ipoplasia ungueale di Hirschsprung Maladie de Hirschsprung - hypoplasie des ongles - dysmorphie hrdo:pat_id_20520 280930 group of phenomes Doenças sistémicas com uveíte posterior Enfermedades sistémicas con uveítis posterior Maladies systémiques avec uvéite postérieure Malattie sistemiche con uveite posteriore Systemic diseases with posterior uveitis Systemische Krankheit mit posteriorer Uveitis hrdo:pat_id_20521 280933 group of phenomes Doenças sistémicas com panuveíte Enfermedades sistémicas con panuveítis Maladies systémiques avec panuvéite Malattie sistemiche con panuveite Systemic diseases with panuveitis Systemische Krankheit mit Panuveitis hrdo:pat_id_20523 281082 group of phenomes Ichthyose, hereditäre, nicht-syndromale Form Ichtyose héréditaire non syndromique Ictiose hereditária, forma não-sindrómica Ictiosis hereditaria no sindrómica Inherited ichthyosis nonsyndromic form Ittiosi ereditaria, forma non sindromica hrdo:pat_id_20524 281085 group of phenomes Ichthyose, hereditäre, syndromale Form Ichtyose héréditaire syndromique Ictiose hereditária, forma sindrómica Ictiosis hereditaria sindrómica Inherited ichthyosis syndromic form Ittiosi ereditaria, forma sindromica hrdo:pat_id_20525 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 308100 neant Q80.1 281090 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 IRLX sindrómica Ichthyose, X-chromosomal-rezessive, syndromale Form Ichtyose liée à l'X recessive syndromique Ictiose sindrómica, recessiva ligada ao X Ictiosis sindrómica recesiva ligada al X Ittiosi sindromica recessiva legata all'X RXLI sindromica RXLI sindrómica RXLI syndromique RXLI, syndromale Syndromic RXLI Syndromic recessive X-linked ichthyosis Ichthyose, X-chromosomale, syndromale Form Ichtyose liée à l'X syndromique Ictiose sindrómica, ligada ao X Ictiosis sindrómica ligada al X Ittiosi legata all'X sindromica Syndromic X-linked ichthyosis hrdo:pat_id_20526 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 281097 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo group of phenomes 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 ARCI ARCI ARCI ARCI ARCI ICAR Autosomal recessive congenital ichthyosis Ichthyose, autosomal-rezessive kongenitale Ichtyose congénitale autosomique récessive Ictiose congénita, autossómica recessiva Ictiosis congénita autosómica recesiva Ittiosi congenita autosomica recessiva hrdo:pat_id_20527 281103 group of phenomes 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 KPI KPI KPI KPI KPI KPI Ichthyose, keratinopathische Ichtyose kératinopathique Ictiose queratinopática Ictiosis queratinopática Ittiosi cheratinopatica Keratinopathic ichthyosis hrdo:pat_id_20528 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 242100 242300 606545 neant Q80.2 281122 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 BCA SHCB SHCB SHCB SHCB Bebé colodión autorresolutivo Bébe colódio com regressão espontânea Bébé collodion à guérison spontanée Collodion baby con regressione spontanea Selbstheilendes Kollodiumbaby Self-healing collodion baby hrdo:pat_id_20529 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q80.2 281127 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acral SHCB BCA acral SHCB acral SHCB acral SHCB, akrales Acral self-healing collodion baby Bebé colodión autorresolutivo acral Bébe colódio acral com regressão espontânea Bébé collodion à guérison spontanée, forme acrale Collodion baby acrale con regressione spontanea Selbstheilendes Kollodiumbaby, akrales hrdo:pat_id_20530 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 607602 neant Q80.3 281139 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 AEI AEI AEI AEI AEI AEI Annular epidermolytic ichthyosis Ichthyose, anuläre epidermolytische Ichtyose épidermolytique annulaire Ictiose epidermolítica anular Ictiosis epidermolítica anular Ittiosi epidermolitica anulare hrdo:pat_id_20532 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 609165 neant 281190 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CRIE CRIE CRIE CRIE CRIE CRIE IWC IWC IWC IWC IWC IWC Ichthyosis variegata Ichthyosis variegata Ichthyosis variegata Ichthyosis with confetti Ichtyose en confettis Ichtyose variegata Ictiose em confeti Ictiosis en confeti Ictiosis variegata Ittiosi in confetti Ittiosi variegata Konfetti-Ichthyose Congenital reticular ichthyosiform erythroderma Eritrodermia ictiosiforme reticular congénita Eritrodermia ictiosiforme reticular congénita Eritrodermia ittiosiforme reticolare congenita Erythrodermie congénitale ichtyosiforme réticulaire Erythrodermie, ichthyosiforme retikuläre, kongenitale Form hrdo:pat_id_20533 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601952 neant Q82.8 281201 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown KLICK syndrome KLICK-Syndrom Sindrome KLICK Syndrome KLICK Síndrome KLICK Síndrome KLICK Cheratosi lineare - ittiosi congenita - cheratoderma sclerosante Keratosis linearis - Ichthyosis congenita - sklerosierendes Keratoderm Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome Queratose linear - ictiose congénita - queratodermia esclerosante Queratosis linear - ictiosis congénita - queratodermia esclerosante Syndrome de kératose linéaire-ichtyose congénitale-kératodermie sclérosante hrdo:pat_id_20534 281210 group of phenomes Ichthyose-Syndrom, X-chromosomales Ichtyose syndromique liée à l'X Ictiosis sindrómica ligada al X Ittiosi sindromica legata all'X Síndrome ictiose ligada ao X X-linked ichthyosis syndrome hrdo:pat_id_20535 281217 group of phenomes Autosomal ichthyosis syndrome Ichthyose-Syndrom, autosomales Ichtyose syndromique autosomique Ictiosis sindrómica autosómica Ittiosi sindromica autosomica Síndrome ictiose autossómica hrdo:pat_id_20536 281222 group of phenomes Autosomal ichthyosis syndrome with prominent hair abnormalities Ichthyose-Syndrom, autosmales, mit prominenten Haaranomalitäten Ichtyose syndromique autosomique avec anomalie des cheveux prédominante Ictiosis sindrómica autosómica con importantes anomalías del cabello Ittiosi sindromica autosomica con anomalie prominenti dei capelli Síndrome ictiose autossómica com anomalias prominentes do cabelo hrdo:pat_id_20537 neant Q80.8 281234 group of phenomes Congenital ichthyosis with trichothiodystrophy Ichthyose, kongenitale, mit Trichothiodystrophie Ichtyose congénitale avec trichothiodystrophie Ictiose congénita com tricotiodistrofia Ictiosis congénita con tricotiodistrofia Ittiosi congenita con tricotiodistrofia hrdo:pat_id_20538 281238 group of phenomes Autosomal ichthyosis syndrome with prominent neurologics signs Ichthyose-Syndrom, autosmales, mit prominenten neurologischen Symptomen Ichtyose syndromique autosomique avec signes neurologiques prédominants Ictiosis sindrómica autosómica con signos neurológicos prominentes Ittiosi sindromica autosomica con segni neurologici prominenti Síndrome ictiose autossómica com sinais neurológicos prominentes hrdo:pat_id_20539 281241 group of phenomes Autosomal ichthyosis syndrome with fatal disease course Ichthyose-Syndrom, autosmales, mit fatalem Krankheitsverlauf Ichtyose syndromique autosomique avec évolution fatale de la maladie Ictiosis sindrómica autosómica de curso fatal Ittiosi sindromica autosomica con decorso fatale della malattia Síndrome ictiose autossómica com doença de curso fatal hrdo:pat_id_2054 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 235740 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Hirschsprung+deafness+polydactyly Q43.1 2155 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Malattia di Santos-Mateus-Leal Santos-Mateus-Leal syndrome Santos-Mateus-Leal, síndrome de Santos-Mateus-Leal-Syndrom Syndrome de Santos-Mateus-Leal Síndrome de Santos-Mateus-Leal Síndrome de Santos-Mateus-Leal Doença de Hirschsprung - surdez - polidactilia Enfermedad de Hirschsprung - polidactilia - sordera Hirschsprung disease - deafness - polydactyly Hirschsprung-Krankheit - Polydaktylie - Innenohrtaubheit Maladie de Hirschsprung - polydactylie - surdité Malattia di Hirschsprung - polidattilia - sordità hrdo:pat_id_20540 281244 group of phenomes Autosomal ichthyosis syndrome with other associated signs Ichthyose-Syndrom, autosmales, mit weiteren assoziierten Symptomen Ichtyose syndromique autosomique avec d'autres signes associés Ictiosis sindrómica autosómica con otros signos asociados Ittiosi sindromica autosomica con altri segni correlati Síndrome ictiose autossómica com outros sinais associados hrdo:pat_id_20555 neant Q93.5 282124 group of phenomes Chromosom 12, partielle Monosomie Monosomia parziale del cromosoma 12 Monosomie partielle du chromosome 12 Monosomía parcial del cromosoma 12 Monossomia parcial do cromossoma 12 Partial monosomy of chromosome 12 Chromosom 12, partielle Deletion Deleción parcial del cromosoma 12 Delezione parziale del cromosoma 12 Deleção parcial do cromossoma 12 Délétion partielle du chromosome 12 Partial deletion of chromosome 12 hrdo:pat_id_20556 123400 neant A81.0 282166 disease CJD ereditaria CJD hereditária CJD, hereditär ECJ heredada Inherited CJD Creutzfeldt-Jakob-Krankheit, hereditäre Doença de Creutzfeldt-Jakob hereditária Enfermedad de Creutzfeldt-Jakob heredada Inherited Creutzfeldt-Jakob disease Maladie de Creutzfeldt-Jakob héréditaire Malattia di Creutzfeldt-Jakob ereditaria hrdo:pat_id_20557 282196 group of phenomes APS APS APS APS Autoimmun-polyglanduläres Syndrom Autoimmune polyglandular syndrome SPA Sindrome polighiandolare autoimmune Syndroma polyglandulaire autoimmun Síndrome poliglandular autoimune Síndrome poliglandular autoinmune Autoimmune polyendocrinopathy Poliendocrinopatia autoimmune Poliendocrinopatia autoimune Poliendocrinopatía autoinmune Polyendocrinopathie autoimmune Polyendokrinopathie, autoimmune hrdo:pat_id_2056 142625 neant Q87.5 2156 malformation syndrome Sindrome di Wiedemann-Oldigs-Oppermann Syndrome de Wiedemann-Oldigs-Oppermann Síndrome de Wiedemann-Oldigs-Oppermann Wiedemann-Oldigs-Oppermann syndrome Wiedemann-Oldigs-Oppermann, síndrome de Wiedemann-Oldigs-Oppermann-Syndrom Hirsutism - skeletal dysplasia - intellectual deficit Hirsutisme - dysplasie squelettique - déficit intellectuel Hirsutismo - displasia esquelética - déficit intelectual Hirsutismo - displasia óssea - atraso mental Hirsutismus - Skelettdysplasie - geistige Retardierung Irsutismo - displasia scheletrica - ritardo mentale hrdo:pat_id_20569 609532 neant 284102 particular clinical situation in a disease or syndrome Reaktion auf PegIFN/Ribavirin bei HCV-Therapie Response to PEG/IFN-ribavirin in HCV Respuesta a PEG/IFN-ribavirina en la hepatitis C Respuesta a PEG/IFN-ribavirina en la infección por VHC Risposta al PEG/IFN-ribavirina in HCV Réponse au PEG/IFN-ribavirine dans l'hépatite C Réponse au PEG/IFN-ribavirine dans le VHC Reaktion auf Polyethylenglykol/Interferon-Ribavirin bei der Hepatitis C-Virus-Therapie Response to polyethylene glycol/interferon-ribavirin in hepatitis C Resposta ao polietileno glicol/interferão-ribavirina do vírus da hepatite C Respuesta a polietilenglicol/interferón-ribavirina en la hepatitis C Risposta al polietilene glicole/interferone-ribavirina nell'epatite C Réponse au polyéthylène glycol/interféron-ribavirine dans l'hépatite C hrdo:pat_id_2057 235830 C538321 2158 C0268642 disease Histidinuria - renal tubular defect Histidinurie mit Nierentubulus-Defekt Histidinurie rénale Histidinúria - tubulopatia renal Histidinúria renal Istidinuria renale hrdo:pat_id_20571 284113 particular clinical situation in a disease or syndrome Empfänglichkeit für Nebenwirkungen bei der Behandlung mit Mercaptopurin Susceptibilidad a los efectos secundarios del tratamiento con mercaptopurina Susceptibilidade a reacção adversa por mercaptopurina Susceptibility to adverse reaction due to mercaptopurine Susceptibilité aux effets indésirables graves de la mercaptopurine Suscettibilità alla reazione avversa da mercaptopurina hrdo:pat_id_20573 284121 particular clinical situation in a disease or syndrome Empfänglichkeit für Nebenwirkungen bei der Behandlung mit Clozapin Susceptibilidad a los efectos secundarios del tratamiento con clozapina Susceptibilidade a reacção adversa por clozapina Susceptibility to adverse reaction due to clozapine Susceptibilité aux effets indésirables graves de la clozapine Suscettibilità alla reazione avversa da clozapina hrdo:pat_id_20575 Variabel Variabile Variable Variable Variable Variable Variável 180300 neant M05 M06 284130 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 AR RA RA RA RA Arthritis, rheumatoide Artrite reumatoide Artrite reumatóide Artritis reumatoide Polyarthrite rhumatoïde Rheumatoid arthritis hrdo:pat_id_20576 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 245600 neant 284139 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Dislocations articulaires multiples - petite taille - dysmorphie craniofaciale - anomalies cardiaques congénitales Dislocazioni articolari multiple - bassa statura - dismorfismi craniofacciali - cardiopatie congenite Luxaciones múltiples - estatura baja - dismorfia craneofacial - defectos congénitos del corazón Multiple joint dislocations - short stature - craniofacial dysmorphism - congenital heart defects Multiplen Gelenkdislokationen - Kleinwuchs - kraniofaziale Dysmorphien - kongenitaler Herzfehler Larsen-like syndrome, B3GAT3 type Larsen-ähnliches Syndrom, B3GAT3 Typ Sindrome Larsen-simile, tipo B3GAT3 Syndrome de Larsen-like de type B3GAT3 Síndrome de Larsen-like, tipo B3GAT3 Síndrome de tipo Larsen, tipo B3GAT3 hrdo:pat_id_20578 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614188 neant Q87.0 284149 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Kreiborg-Pakistani syndrome Kreiborg-Pakistani-Syndrom Sindrome di Kreiborg-Pakistani Syndrome de Kreiborg-Pakistani Síndrome de Kreiborg-Pakistani Craneosinostosis y anomalías dentales Craniosinostosi e anomalie dentali Craniossinostose e anomalias dentárias Craniosynostose et anomalies dentaires Craniosynostosis and dental anomalies Kraniosynostose und Zahnanomalien hrdo:pat_id_2058 601370 neant Q04.2 Q75.0 2163 malformation syndrome Camera-Lituania-Cohen, síndrome de Camera-Lituania-Cohen-Syndrom Camero-Lituania-Cohen syndrome Genes syndrome Genes-Syndrom Genoa, síndrome de Sindrome di Camera-Lituania-Cohen Sindrome di Genes Syndrome de Camera-Lituania-Cohen Syndrome de Genes Síndrome de Camera-Lituania-Cohen Síndrome de Camera-Lituania-Cohen Síndrome de Genoa Holoprosencefalia - craneosinostosis Holoprosencefalia - craniossinostose Holoprosencephaly - craniosynostosis Holoprosencéphalie - craniosynostose Holoprosenzephalie mit Kraniosynostose Oloprosencefalia - craniosinostosi hrdo:pat_id_20581 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614230 neant Q93.5 284160 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Del(8)(q21.11) Del(8)(q21.11) Del(8)(q21.11) Del(8)(q21.11) Del(8)(q21.11) Deleción 8q21.11 Deletion 8q21.11 Deletion 8q21.11 Delezione 8q21.11 Délétion 8q21.11 Monosomia 8q21.11 Monosomie 8q21.11 Monosomie 8q21.11 Monosomy 8q21.11 Monosomía 8q21.11 8q21.11 microdeletion syndrome Mikrodeletionssyndrom 8q21.11 Sindrome da microdelezione 8q21.11 Syndrome de microdélétion 8q21.11 Síndrome de microdeleción 8q21.11 Síndrome de microdeleção 8q21.11 hrdo:pat_id_20582 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q83.5 284169 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 10p12p11 microdeletion syndrome Del(10)(p11.21p12.31) Del(10)(p11.21p12.31) Deleción 10p11.21p12.31 Deletion 10p11.21p12.31 Deletion 10p11.21p12.31 Delezione 10p11.21p12.31 Délétion 10p11.21p12.31 Mikrodeletionssyndrom 10p12p11 Monosomia 10p11.21p12.31 Monosomie 10p11.21p12.31 Monosomie 10p11.21p12.31 Monosomy 10p11.21p12.31 Monosomía 10p11.21p12.31 Sindrome da microdelezione 10p12p11 Syndrome de microdélétion 10p12p11 Síndrome de microdeleción 10p12p11 del(10)(p11.21p12.31) del(10)(p11.21p12.31) del(10)(p11.21p12.31) 10p11.21p12.31 microdeletion syndrome Mikrodeletionssyndrom 10p11.21p12.31 Sindrome da microdelezione 10p11.21p12.31 Syndrome de microdélétion 10p11.21p12.31 Síndrome de microdeleción 10p11.21p12.31 Síndrome de microdeleção 10p11.21p12.31 hrdo:pat_id_20583 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q99.8 284180 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dup(X)(p22) Dup(X)(p22) Dup(X)(p22) Dup(X)(p22) Dup(X)(p22) Dup(X)(p22.13p22.2) Dup(X)(p22.13p22.2) Dup(X)(p22.13p22.2) Dup(X)(p22.13p22.2) Dup(X)(p22.13p22.2) Duplicación Xp22 Duplication Xp22 Duplication Xp22 Duplicazione Xp22 Duplikation Xp22 Sindrome da duplicazione Xp22.13p22.2 Syndrome de duplication Xp22.13p22.2 Síndrome de duplicación Xp22.13p22.2 Síndrome de microdeleção Xp22.13p22.2 Xp22.13p22.2 duplication syndrome Xp22.13p22.2-Duplikationssyndrom hrdo:pat_id_20584 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 284227 clinical syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Telangectasia - eritrocitosi - gammopatia monoclonale - ascessi perinefrici - shunting intrapolmonare Telangiectasia - eritrocitosis - gammapatía monoclonal - colecciones líquidas perirrenales - derivación intrapulmonar Telangiectasia - erythrocytosis - monoclonal gammopathy - perinephric-fluid collections - intrapulmonary shunting Telangiektasie - Erythrozytose - monoklonale Gammopathie - paranephritischer Abszess - Intrapulmonaler Shunt Télangiectasie - érythrocytose - gammopathie monoclonale - épanchements périnéphrétiques - shunt pulmonaire Sindrome TEMPI Syndrome TEMPI Síndrome TEMPI Síndrome TEMPI TEMPI syndrome TEMPI-Syndrom hrdo:pat_id_20585 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 614228 neant G60.0 284232 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CMT2O CMT2O CMT2O CMT2O CMT2O Autosomal dominant Charcot-Marie-Tooth disease type 2O Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2O Doença de Charcot-Marie-Tooth tipo 2O, autossómica dominante Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2O Maladie de Charcot-Marie-Tooth autosomique dominante type 2O Malattia di Charcot-Marie-Tooth tipo 2O, autosomica dominante hrdo:pat_id_20587 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 614224 neant 284247 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 FRAM FRAM FRAM FRAM FRAM Macroaneurisma arterial retiniano y estenosis pulmonar supravalvular Macroaneurisma arterioso retinico e stenosi polmonare sopravalvolare Macroanévrisme artériel de la rétine et sténose pulmonaire supravalvulaire Retinal arterial macroaneurysm and supravalvular pulmonic stenosis Retinale arterielle Makroaneurysmen - supravalvuläre Pulmonalstenose Familial retinal arterial macroaneurysm Macroaneurisma arterial retiniano familiar Macroaneurisma arterial retiniano familiar Macroaneurisma arterioso retinico familiare Macroanévrisme artériel rétinien familial Makroaneurysmen, arterielle retinale, familiäre Form hrdo:pat_id_20589 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 284264 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Enfermedad esclerosante ligada a IgG4 Enfermedad sistémica ligada a IgG4 IgG4-assoziierte Systemkrankheit IgG4-assoziierte sklerosierende Krankheit IgG4-related sclerosing disease IgG4-related systemic disease Maladie sclérosante liée aux Ig G4 Maladie systémique associée aux IgG4 Malattia sclerosante legata alle IgG4 Malattia sistemica legata alle IgG4 Doença esclerosante relacionada com imunoglobulina G4 Enfermedad esclerosante ligada a inmunoglobulinas G4 Immunglobulin-G4-assoziierte sklerosierende Krankheit Immunoglobulin G4-related sclerosing disease Maladie sclérosante liée aux immunoglobulines G4 Malattia sclerosante legata alle immunoglobuline G4 hrdo:pat_id_20590 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 614229 neant 284271 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atassia spinocerebellare autosomica recessiva 11 Ataxia espinocerebelosa autosómica recesiva 11 Ataxie spinocérébelleuse autosomique récessive-11 Autosomal recessive spinocerebellar ataxia-11 Autosomal-rezessive zerebelläre Ataxie-11 SCAR11 SCAR11 SCAR11 SCAR11 SCAR11 Atassia cerebellare autosomica recessiva - ritardo psicomotorio Ataxia cerebelosa autossómica recessiva - atraso psicomotor Ataxia cerebelosa autosómica recesiva - retraso psicomotor Ataxie cérébelleuse autosomique récessive - retard psychomoteur Ataxie, autosomal-rezessive zerebelläre - psychomotorische Retardierung Autosomal recessive cerebellar ataxia - psychomotor retardation hrdo:pat_id_20592 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614322 neant 284282 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atassia spinocerebellare autosomica recessiva 12 Ataxia espinocerebelosa autosómica recesiva 12 Ataxie spinocérébelleuse autosomique récessive-12 Autosomal recessive spinocerebellar ataxia-12 Autosomal-rezessive zerebelläre Ataxie-12 SCAR12 SCAR12 SCAR12 SCAR12 SCAR12 Atassia cerebellare autosomica recessiva - epilessia - deficit cognitivo Ataxia cerebelosa autossómica recessiva - epilepsia - défice intelectual Ataxia cerebelosa autosómica recesiva - epilepsia - déficit intelectual Ataxie cérébelleuse autosomique récessive - épilepsie - déficit intellectuel Ataxie, autosomal-rezessive zerebelläre - Epilepsie - Intelligenzminderung Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit hrdo:pat_id_20593 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 613728 neant G11.2 284289 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atassia spinocerebellare autosomica recessiva 10 Ataxia espinocerebelosa autosómica recesiva 10 Ataxie spinocérébelleuse autosomique récessive-10 Autosomal recessive spinocerebellar ataxia-10 Autosomal-rezessive spinozerebelläre Ataxie-10 SCAR10 SCAR10 SCAR10 SCAR10 SCAR10 Adult-onset autosomal recessive cerebellar ataxia Atassia cerebellare autosomica recessiva a esordio nell'età adulta Ataxia cerebelosa autossómica recessiva, de apresentação no adulto Ataxia cerebelosa autosómica recesiva de aparición en adultos Ataxie cérébelleuse autosomique récessive de l'adulte Autosomal-rezessive zerebelläre Ataxie mit Beginn im Erwachsenenalter hrdo:pat_id_20595 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 609270 neant G11.1 284324 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atassia spinocerebellare autosomica recessiva 7 Ataxia espinocerebelosa autosómica recesiva 7 Ataxie spinocérébelleuse autosomique récessive-7 Autosomal recessive spinocerebellar ataxia-7 Autosomal-rezessive spinozerebelläre Ataxie-7 SCAR7 SCAR7 SCAR7 SCAR7 SCAR7 Atassia spinocerebellare autosomica recessiva a progressione lenta e a esordio infantile Ataxia espinocerebelosa autosómica recesiva de progresión lenta y aparición en la infancia Ataxia espinocerebelosa lentamente progressiva, autossómica recessiva, de apresentação no infância Ataxie spinocérébelleuse autosomique récessive lentement progressive de l'enfant Autosomal-rezessive spinozerebelläre Ataxie mit Beginn in der Kindheit, langsam fortschreitend Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia hrdo:pat_id_20596 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 608029 neant G11.0 284332 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atassia spinocerebellare autosomica recessiva 6 Ataxia espinocerebelosa autosómica recesiva 6 Ataxie spinocérébelleuse autosomique récessive-6 Autosomal recessive spinocerebellar ataxia-6 Autosomal-rezessive spinozerebelläre Ataxie-6 SCAR6 SCAR6 SCAR6 SCAR6 SCAR6 Atassia cerebellare autosomica recessiva non progressiva a esordio infantile Ataxia cerebelosa autosómica recesiva no progresiva y de aparición en la infancia Ataxia cerebelosa não-progressiva, autossómica recessiva, de apresentação no infância Ataxie cérébelleuse autosomique récessive non progressive infantile Autosomal-rezessive zerebelläre Ataxie, infantile, nicht-progressive Infantile-onset autosomal recessive nonprogressive cerebellar ataxia hrdo:pat_id_20597 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 284339 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hipoplasia pontocerebelosa tipo 7 Hipoplasia pontocerebelosa, tipo 7 Hypoplasie pontocérébelleuse type 7 Ipoplasia pontocerebellare, tipo 7 Pontocerebellar hypoplasia type 7 Pontozerebelläre Hypoplasie Typ 7 hrdo:pat_id_20598 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 601200 neant 284343 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype DICER1 syndrome DICER1-Syndrom PPB family tumor susceptibility syndrome PPB-Tumor-Syndrom, familiäres PPBFTDS PPBFTDS PPBFTDS PPBFTDS PPBFTDS Pleuro-pulmonary blastoma family tumor susceptibility syndrome Pleuropulmonales Blastom des Kindesalters Sindrome DICER1 Sindrome da suscettibilità familiare al PPB Sindrome da suscettibilità familiare al blastoma pleuro-polmonare Syndrome DICER1 Syndrome de susceptibilité familial au BPP Syndrome de susceptibilité familial au blastome pleuro-pulmonaire Síndrome DICER1 Síndrome de predisposición tumoral hereditaria al BPP Pleuropulmonary blastoma family tumor susceptibility syndrome Prädisposition für die familiäre Form des Pleuropulmonalen Blastom-Syndroms Sindrome da suscettibilità familiare al blastoma pleuropolmonare Syndrome de susceptibilité familial au blastome pleuropulmonaire Síndrome de susceptibilidad familiar al blastoma pleuropulmonar Síndrome de susceptibilidade familiar ao blastoma pleuropulmonar hrdo:pat_id_206 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 163950 605275 609942 610733 611553 613224 613563 613706 D009634 10029748 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Noonan+Syndrome%5BTW%5D+OR+Noonan+Syndrome%5BTIAB%5D+OR+%22noonan+syndrome%22%5BMeSH+Terms%5D Q87.1 648 205684007 205824006 C0028326 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Pseudo-Turner, síndrome Síndrome pseudo-Turner Noonan syndrome Noonan-Syndrom Sindrome di Noonan Syndrome de Noonan Síndrome de Noonan Síndrome de Noonan hrdo:pat_id_2060 neant Q04.2 2165 malformation syndrome Holoprosencefalia - disgenesia caudal Holoprosencefalia - disgenesia caudal Holoprosencephaly - caudal dysgenesis Holoprosencéphalie - dysgénésie caudale Holoprosenzephalie - kaudale Dysgenesie Oloprosencefalia - disgenesia caudale hrdo:pat_id_20601 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 284362 clinical subtype FLIT FLIT FLIT FLIT FLIT Immature interstitial mesenchymal tumor Tumeur interstitielle mésenchymateuse immature Tumor intersticial mesenquimal inmaduro Tumor, interstitieller mesenchymaler unreifer Tumore mesenchimale interstiziale immaturo Fetal lung interstitial tumor Fetaler Lungentumor, interstitieller Tumeur interstitielle du poumon foetal Tumor intersticial del pulmón fetal Tumor intersticial do pulmão, fetal Tumore polmonare interstiziale fetale hrdo:pat_id_20602 neant K83.1 284385 group of phenomes Cholestase intrahépatique familiale Cholestase, intrahepatische, familiäre Form Colestase intra-hepática familiar Colestasi intraepatica familiare Colestasis intrahepática familiar Familial intrahepatic cholestasis hrdo:pat_id_20603 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 284388 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Call-Fleming-Syndrom RCVS RCVS RCVS RCVS SVCR SVCR Reversible cerebral vasoconstriction syndrome Reversibles zerebrales Vasokonstriktionssyndrom Sindrome da vasocostrizione cerebrale reversibile Syndrome de vasoconstriction cérébrale réversible Síndrome de vasoconstricción cerebral reversible Síndrome de vasoconstrição cerebral reversível hrdo:pat_id_20604 Variabel Variabile Variable Variable Variable Variable Variável neant C34 284395 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown WDFA WDFA WDFA WDFA WDFA Adenocarcinoma bem diferenciado fetal do pulmão Adenocarcinoma polmonare fetale indifferenziato Adenocarcinoma pulmonar fetal bien diferenciado Adénocarcinome pulmonaire bien différencié de type foetal Fetales Adenokarzinom der Lunge, gut-differenziert Well-differentiated fetal adenocarcinoma of the lung hrdo:pat_id_20605 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant C67 284400 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Blasenkrebs, kleinzelliger Cancer à petites cellules de la vessie Cancro della vescica a piccole cellule Carcinoma de células pequeñas de la vejiga urinaria Carcinoma de vejiga de células pequeñas Carcinoma della vescica urinaria a piccole cellule Carcinoma neuroendocrino della vescica scarsamente differenziato Carcinoma neuroendocrino pobremente diferenciado de la vejiga Carcinome neuro-endocrine primitif de la vessie Cáncer de vejiga de células pequeñas Poorly differentiated neuroendocrine carcinoma of the bladder SCCB SCCB SCCB SCCB SCCB Small cell bladder cancer Small cell bladder carcinoma Small cell carcinoma of the urinary bladder Tumeur neuro-endocrine à petites cellules de la vessie Undifferenziertes neuroendokrines Blasenkarzinom Blasenkarzinom, kleinzelliges Carcinoma das células pequenas da bexiga Carcinoma de células pequeñas de vejiga Carcinoma della vescica a piccole cellule Carcinome à petites cellules de la vessie Small cell carcinoma of the bladder hrdo:pat_id_20606 neant E74.8 284408 clinical subtype Deficit infantile di glicerolo chinasi Deficiência da glicerol cinase, infantil Déficit de glicerol quinasa infantil Déficit en glycérol kinase, forme infantile Glycerol kinase deficiency, infantile form Glycerol-Kinase-Mangel, infantiler hrdo:pat_id_20607 neant E74.8 284411 clinical subtype Deficit giovanile di glicerolo chinasi Deficiência da glicerol cinase, juvenil Déficit de glicerol quinasa juvenil Déficit en glycérol kinase, forme juvénile Glycerol kinase deficiency, juvenile form Glycerol-Kinase-Mangel, juveniler hrdo:pat_id_20608 neant E74.8 284414 clinical subtype Deficit di glicerolo chinasi dell'adulto Deficiência da glicerol cinase, do adulto Déficit de glicerol quinasa en adultos Déficit en glycérol kinase, forme adulte Glycerol kinase deficiency, adult form Glycerol-Kinase-Mangel, adulter hrdo:pat_id_20609 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 610992 neant E72.8 284417 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficit di PSAT Déficit de PSAT Déficit en PSAT PSAT deficiency PSAT-Mangel Deficit di fosfoserina aminotransferasi Deficiência da aminotransferase fosfoserina Déficit de fosfoserina aminotransferasa Déficit en phosphoserine aminotransferase Phosphoserin-Aminotransferase-Mangel Phosphoserine aminotransferase deficiency hrdo:pat_id_2061 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 264480 neant Q87.8 2166 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Pseudo-trisomy 13 syndrome Pseudo-trissomia 13, síndrome de Pseudotrisomie 13-Syndrom Sindrome da pseudotrisomia 13 Syndrome pseudo-trisomie 13 Síndrome de Young-Maders Síndrome de pseudo trisomía 13 Síndrome de pseudo-trissomia 13 Young-Maders, síndrome de Holoprosencefalia - polidactilia post axial Holoprosencefalia - polidactilia pós-axial Holoprosencephaly - postaxial polydactyly Holoprosencéphalie - polydactylie post-axiale Holoprosenzephalie - postaxiale Polydaktylie Oloprosencefalia - polidattilia postassiale hrdo:pat_id_20610 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 612933 neant E74.0 284426 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficit della lattato deidrogenasi A Deficit della subunità M-LDH Déficit de la subunidad M-LDH Déficit de lactato deshidrogenasa A Déficit en LDH-M Déficit en lactate déshydrogénase A Enfermedad de almacenamiento de glucógeno tipo 11 GSD da deficit della subunità M della lattato deidrogenasi GSD due to lactate dehydrogenase M-subunit deficiency GSD par déficit en sous-unité M de la lactate déshydrogénase GSD por déficit de la subunidad M de la lactato deshidrogenasa GSD tipo 11 GSD type 11 GSD type 11 GSD, tipo 11 Glicogenosi da deficit della subunità M della lattato deidrogenasi Glicogenosi, tipo 11 Glucogenosis por déficit de la subunidad M de la lactato deshidrogenasa Glucogenosis tipo 11 Glycogen storage disease type 11 Glycogenosis due to lactate dehydrogenase M-subunit deficiency Glycogenosis type 11 Glycogénose type 11 LDH-M subunit deficiency LDH-M-Untereinheit-Mangel Lactate dehydrogenase A deficiency Laktat-Dehydrogenase A-Mangel Malattia da deposito di glicogeno, tipo 11 Deficiência da subunidade M da lactato desidrogenase Enfermedad de almacenamiento de glucógeno por déficit de la subunidad M de la lactato deshidrogenasa Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency Glycogènose par déficit en sous-unité M de la lactate déshydrogénase Laktat-Dehydrogenase M-Untereinheit-Mangel Malattia da deposito di glicogeno dovuta a deficit della subunità M della lattato deidrogenasi hrdo:pat_id_20611 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 614128 neant E74.0 284435 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficit della lattato deidrogenasi B Deficit della subunità H-LDH Déficit de la subunidad H-LDH Déficit de lactato deshidrogenasa B Déficit en LDH-H Déficit en lactate déshydrogénase B GSD da deficit della subunità H della lattato deidrogenasi GSD due to lactate dehydrogenase H-subunit deficiency GSD par déficit en sous-unité H de la lactate déshydrogénase GSD por déficit de la subunidad H de la lactato deshidrogenasa Glicogenosi da deficit della subunità H della lattato deidrogenasi Glucogenosis por déficit de la subunidad H de la lactato deshidrogenasa Glycogenosis due to lactate dehydrogenase H-subunit deficiency LDH-H subunit deficiency LDH-H-Untereinheit-Mangel Lactate dehydrogenase B deficiency Laktat-Dehydrogenase B-Mangel Deficiência da subunidade H da lactato desidrogenase Enfermedad de almacenamiento de glucógeno por déficit de la subunidad H de la lactato deshidrogenasa Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency Glycogènose par déficit en sous-unité H de la lactate déshydrogénase Laktat-Dehydrogenase H-Untereinheit-Mangel Malattia da deposito di glicogeno dovuta a deficit della subunità H della lattato deidrogenasi hrdo:pat_id_20612 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 284448 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids Infiammazione linfocitica cronica con rialzamento perivascolare pontino sensibile agli steroidi Inflamación linfocítica crónica con mejora perivascular pontina sensible a esteroides Inflammation chronique lymphocytaire avec réhaussement périvasculaire pontique cortico-sensible CLIPPERS CLIPPERS CLIPPERS CLIPPERS CLIPPERS CLIPPERS hrdo:pat_id_20613 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 284454 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 AZOOR AZOOR AZOOR AZOOR AZOOR Acute zonal occult outer retinopathy Retinopathie, akute äußere okkulte zonale Retinopatia esterna nascosta zonale acuta Retinopatia oculta externa zonal aguda Retinopatía aguda zonal oculta externa Rétinopathie occulte externe zonale aiguë hrdo:pat_id_20614 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 284460 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 AAOR AAOR AAOR AAOR AAOR Acute annular outer retinopathy Retinopathie, akute äußere ringförmige Retinopatia esterna anulare acuta Retinopatia externa anular aguda Retinopatía aguda anular externa Rétinopathie externe annulaire aiguë hrdo:pat_id_2062 236110 C535327 neant Q87.8 2167 C1856095 malformation syndrome Holzgreve-Wagner-Rehder syndrome Holzgreve-Wagner-Rehder-Syndrom Sindrome di Holzgreve-Wagner-Rehder Syndrome de Holzgreve-Wagner-Rehder Síndrome de Holzgreve-Wagner-Rehder Síndrome de Holzgreve-Wagner-Rehder hrdo:pat_id_20621 284786 group of phenomes Anomalie qualitative ou quantitative de la troponine Defectos cualitativos o cuantitativos de la troponina Deficiência qualitativa ou quantitativa da troponina Difetti qualitativi o quantitativi della troponina Qualitative or quantitative defects of troponin Troponin, qualitative oder quantitative Defekte hrdo:pat_id_20622 284790 group of phenomes Anomalie qualitative ou quantitative de la tropomyosine Defectos cualitativos o cuantitativos de la tropomiosina Deficiência qualitativa ou quantitativa da tropomiosina Difetti qualitativi o quantitativi della tropomiosina Qualitative or quantitative defects of tropomyosin Tropomyosin, qualitative oder quantitative Defekte hrdo:pat_id_20623 neant E70.3 284804 group of phenomes Albinisme oculaire Albinismo ocular Albinismo ocular Albinismo oculare Albinismus, okulärer Ocular albinism hrdo:pat_id_20624 neant E70.3 284811 group of phenomes Albinisme oculo-cutané syndromique Albinismo oculocutaneo sindromico Albinismo oculocutáneo sindrómico Albinismo oculocutâneo sindrómico Okulokutaner Albinismus, syndromaler Syndromic oculocutaneous albinism hrdo:pat_id_20625 neant E70.0 E70.1 284814 group of phenomes Difetto del metabolismo della fenilalanina Disorder of phenylalanine metabolism Doença do metabolismo da fenilalanina Phenylalanin-Stoffwechselstörung Trastorno del metabolismo de la fenilalanina Trouble du métabolisme de la phénylalanine hrdo:pat_id_20626 neant E70.2 284818 group of phenomes Difetto del metabolismo della tirosina Disorder of tyrosine metabolism Doença do metabolismo da tirosina Trastorno del metabolismo de la tirosina Trouble du métabolisme de la tyrosine Tyrosin-Stoffwechselstörung hrdo:pat_id_20628 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 154700 neant Q87.4 284963 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype MFS1 MFS1 MFS1 MFS1 MFS1 Marfan syndrome type 1 Marfan-Syndrom Typ 1 Sindrome di Marfan, tipo 1 Syndrome de Marfan type 1 Síndrome de Marfan tipo 1 Síndrome de Marfan tipo 1 hrdo:pat_id_20629 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 610380 neant Q87.4 284973 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype Loeys-Dietz syndrome type 2 Loeys-Dietz-Syndrom Typ 2 MFS2 MFS2 MFS2 MFS2 MFS2 Sindrome di Loeys-Dietz, tipo 2 Syndrome de Loeys-Dietz type 2 Síndrome de Loeys-Dietz tipo 2 Marfan syndrome type 2 Marfan-Syndrom Typ 2 Sindrome di Marfan, tipo 2 Syndrome de Marfan type 2 Síndrome de Marfan tipo 2 Síndrome de Marfan tipo 2 hrdo:pat_id_2063 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 236270 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28cobalamin+E%5Btw%5D+OR+cble%5Btw%5D+OR+methionine+synthase+reduct*%5Btw%5D+deficiency%29+Vitamin+B+12/me+OR+Ferredoxin+NADP+Reductase/df E72.1 2169 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficiencia de metilcobalamina de tipo cbl E Deficiencia funcional de metionina sintasa tipo cblE Deficit funzionale di metionina sintasi, tipo cblE Déficit fonctionnel en méthionine synthase type cblE Déficit funcional de metionina sintasa tipo cblE Functional methionine synthase deficiency type cblE Homocistinúria por defeito na metilação tipo cbl E Homocystinurie durch Methylierungsdefekt, Typ cbl E Deficit di metilcobalamina, tipo cblE Deficiência de metilcobalamina tipo cbl E Déficit de metilcobalamina de tipo cbl E Déficit en méthylcobalamine type cblE Methylcobalamin deficiency type cblE Methylcobalamin-Mangel Typ cbl E hrdo:pat_id_20630 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q87.4 284979 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown MFS neonatal MFS neonatale MFS néonatal Neonatal MFS Neonatales MFS Marfan-Syndrom, neonatales Neonatal Marfan syndrome Sindrome di Marfan neonatale Syndrome de Marfan néonatal Síndrome de Marfan neonatal Síndrome de Marfan neonatal hrdo:pat_id_20631 Variabel Variabile Variable Variable Variable Variable Variável 613795 neant 284984 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 AOS AOS AOS AOS AOS Loeys-Dietz syndrome with osteoarthritis Loeys-Dietz-Syndrom mit with Osteoarthritis Sindrome di Loeys-Dietz con osteoartrite Syndrome de Loeys-Dietz avec ostéoarthrite Syndrome de l'arthrose - anévrisme Síndrome de Loeys-Dietz con osteoartritis Aneurysm - osteoarthritis syndrome Aneurysmen-Osteoarthritis-Syndrom Sindrome aneurisma-osteoartrite Syndrome d'ostéoarthrite - anévrisme Síndrome aneurisma - osteoartrite Síndrome aneurisma-osteoartritis hrdo:pat_id_20632 neant Q87.4 284993 group of phenomes Doenças de Marfan e Marfan-like Marfan and Marfan-related disorder Marfan and Marfan-verwandte Krankheiten Sindrome di Marfan e malattie correlate Syndrome de Marfan et apparenté Síndrome de Marfan y trastornos relacionados hrdo:pat_id_20633 neant I71.1 I71.2 285014 group of phenomes Familiare TAAD TAAD familiare Aneurisma e dissecção torácica familiar Aneurisma e dissezione toracica familiare Enfermedad rara con aneurisma aórtico torácico y disección aórtica Maladie rare avec anévrisme et dissection de l'aorte thoracique Rare disease with thoracic aortic aneurysm and aortic dissection Thorakales Aortenaneurysma mit Dissektion, familiäre Form hrdo:pat_id_2065 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 248760 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=MARFANOID+HABITUS+microcephaly+glomerulonephritis Q87.8 2172 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Houlston-Iraggori-Mmurday-Syndrom Microcefalia - glumerolonefrite - hábito marfanóide Microcephaly - glomerulonephritis - marfanoid habitus Mikrozephalie - Glomerulonephritis - marfanoider Habitus Sindrome di Houlston-Iraggori-Murday Syndrome de Houlston-Iraggori-Murday Síndrome de Houlston-Iraggori-Murday hrdo:pat_id_2067 2174 disease Hunter Carpenter mcDonald, síndrome de Hunter-Carpenter-McDonald syndrome Hunter-Carpenter-McDonald-Syndrom Sindrome di Hunter-Carpenter-McDonald Syndrome de Hunter-Carpenter-McDonald Síndrome de Hunter-Carpenter-McDonald hrdo:pat_id_20670 285657 group of phenomes Störung des Folat-Stoffwechsels Anomalie du métabolisme et du transport des folates Difetto del metabolismo e del trasporto del folato Disorder of folate metabolism and transport Doença do metabolismo do folato Folsäure-Stoffwechselstörung Trastorno del metabolismo y transporte del folato hrdo:pat_id_2069 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 236490 2176 238867003 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hialinose infantil sistémica Hialinosis sistémica infantil Hyalinose systémique infantile Hyalinose, infantile systemische Ialinosi sistemica infantile Infantile systemic hyalinosis hrdo:pat_id_20698 289098 group of phenomes Difetti del metabolismo della vitamina D Disorders of vitamin D metabolism Doenças do metabolismo da vitamina D Störung des Vitamin D-Stoffwechels Trastorno del metabolismo de la vitamina D Troubles du métabolisme de la vitamine D hrdo:pat_id_20699 neant 289103 group of phenomes Hypocalcemic rickets Rachitis, hypokalzämische Rachitisme hypocalcémique Rachitismo ipocalcemico Raquitismo hipocalcémico Raquitismo hipocalcémico hrdo:pat_id_207 Normal Normal Normal Normal Normal Normal Normale Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 109400 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=basal+cell+nevus+syndrome%5Bmajr%5D Q87.8 377 69408002 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Basal cell nevus syndrome Basalzellnävus-Syndrom Carcinoma das células basais nevóides Carcinoma delle cellule basali NBCCS NBCCS NBCCS Naevoides Basalzellkarzinom-Syndrom (NBCCS) Naevomatose basocellulaire Nevoid basal cell carcinoma syndrome Síndrome de carcinoma nevoide de células basales Síndrome de nevo de células basales Gorlin syndrome Gorlin-Syndrom Sindrome di Gorlin Syndrome de Gorlin Síndrome de Gorlin Síndrome de Gorlin hrdo:pat_id_2070 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 600991 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hydrocephalus+sprengel Q87.8 2180 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Ferlini-Ragno-Calzolari syndrome Ferlini-Ragno-Calzolari, síndrome de Ferlini-Ragno-Calzolari-Syndrom Sindrome di Ferlini-Ragno-Calzolari Sindrome di Waaler-Aarskog Syndrome de Ferlini-Ragno-Calzolari Syndrome de Waaler-Aarskog Síndrome de Ferlini-Ragno-Calzolari Síndrome de Ferlini-Ragno-Calzolari Síndrome de Waaler-Aarskog Síndrome de Waaler-Aarskog Waaler-Aarskog syndrome Waaler-Aarskog, síndrome de Waaler-Aarskog-Syndrom Hidrocefalia - displasia costo-vertebral - anomalia de Sprengel Hidrocefalia - displasia costoventral - anomalía de Sprengel Hydrocephalus - costovertebral dysplasia - Sprengel anomaly Hydrocéphalie - dysplasie costovertébrale - anomalie de Sprengel Hydrozephalus - costovertebrale Dysplasie - Sprengel-Anomalie Idrocefalo - displasia costovertebrale - anomalia di Sprengel hrdo:pat_id_20702 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 264700 600081 600785 neant E55.0 289157 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-alpha-Hydroxylase-Mangel 1-alpha-hydroxylase deficiency Deficiencia de 1-alfa-hidroxilasa Deficit di 1-alfa-idrossilasi Deficiência de 1-alfa-hidroxilase Dependencia de vitamina D tipo I Dependência de vitamina D, tipo I Dipendenza dalla vitamina D, tipo I Déficit de 1-alfa-hidroxilasa Déficit en 1-alpha-hydrolase Dépendance en vitamine D de type I PDDRI PDDRI PDDRI PDDRI PDDRI PDDRI Pseudo-Vitamin-D-Mangel-Rachitis Pseudovitamin D-deficient rickets Rachitisme d'insuffisance en pseudo-vitamine D Rachitisme de carence en pseudo-vitamine D Rachitisme hypocalcémique dépendant de la vitamine D Rachitisme vitamine D-dépendant de type I Rachitismo con deficit della pseudovitamina D Rachitismo dipendente dalla vitamina D, tipo I Raquitismo dependente de vitamina D, tipo I Raquitismo dependiente de vitamina D tipo I Raquitismo por deficiencia de pseudovitamina D Raquitismo por deficiência de pseudovitamina D Raquitismo por déficit de pseudovitamina D VDDI VDDI VDDI VDDI VDDI VDDI VDDR-I VDDR-I VDDR-I VDDR-I VDDR-I VDDR-I Vitamin D dependent rickets type I Vitamin D-dependency type I Vitamin-D-Mangel-Rachitis Typ I Hypocalcemic vitamin D dependent rickets Rachitis, hypokalzämische, Vitamin D-abhängige Rachitisme hypocalcémique vitamine D-dépendant Rachitismo ipocalcemico dipendente dalla vitamina D Raquitismo hipocalcémico dependente de vitamina D Raquitismo hipocalcémico dependiente de vitamina D hrdo:pat_id_20703 Variabel Variabile Variable Variable Variable Variable Variável 241520 613312 neant E83.3 289176 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis ARHR ARHR ARHR ARHR ARHR ARHR Hypophosphatémie autosomique récessive Autosomal recessive hypophosphatemic rickets Rachitis, hypophosphatämische, autosomal-rezessive Rachitisme hypophosphatémique autosomique récessif Rachitismo ipofosfatemico autosomico recessivo Raquitismo hipofosfatémico autosómico recesivo Raquitismo hipofosfatémico, autossómico recessivo hrdo:pat_id_20705 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 613971 neant E72.1 289266 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Early-onset epileptic encephalopathy and intellectual deficit due to GRIN2A mutation Encefalopatia epilettica a esordio precoce e deficit cognitivo da mutazione di GRIN2A Encefalopatia epiléptica e défice intelectual de início precoce por mutações em GRIN2A Encefalopatía epiléptica de aparición temprana y déficit intelectual por mutación en GRIN2A Encéphalopathie épileptique à début précoce et déficit intellectuel lié à une mutation de GRIN2A Früh-einsetzende epileptische Enzephalopathie und Intelligenzminderung durch GRIN2A-Genmutation hrdo:pat_id_20707 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 614300 neant E72.1 289290 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown ADK hypermethioninemia ADK-Hypermethioninämie Encefalopatia associada a hipermetioninemia por deficiência de ADK Encefalopatia associata a ipermetioninemia da deficit di ADK Encefalopatía con hipermetioninemia por deficiencia de ADK Encefalopatía con hipermetioninemia por deficiencia de adenosina quinasa Encefalopatía con hipermetioninemia por déficit de ADK Encéphalopathie associée à une hyperméthioninémie par déficit en ADK Hipermetioninemia ADK Hipermetioninemia ADK Hypermethioninemia encephalopathy due to ADK deficiency Hypermethioninämische Enzephalopathie durch ADK-Mangel Ipermetioninemia ADK Encefalopatia associada a hipermetioninemia por deficiência da adenosina cinase Encefalopatia associata a ipermetioninemia da deficit di adenosina chinasi Encefalopatía con hipermetioninemia por déficit de adenosina quinasa Encéphalopathie associée à une hyperméthioninémie par déficit en adenosine kinase Enzephalopathie bei Hypermethioninämie durch Adenosinkinase-Mangel Hypermethioninemia encephalopathy due to adenosine kinase deficiency hrdo:pat_id_20709 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614105 neant E71.1 289307 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso do desenvolvimento por deficiência de ALDH6A1 Atraso do desenvolvimento por deficiência de MMSDH Developmental delay due to ALDH6A1 deficiency Developmental delay due to MMSDH deficiency Entwicklungsverzögerung durch ALDH6A1-Mangel Entwicklungsverzögerung durch MMSDH-Mangel Retard de développement lié à un déficit en ALDH6A1 Retard de développement lié à un déficit en MMSDH Retraso en el desarrollo por deficiencia de ALDH6A1 Retraso en el desarrollo por deficiencia de MMSDH Retraso en el desarrollo por deficiencia de metilmalonato semialdehído deshidrogenasa Retraso en el desarrollo por déficit de ALDH6A1 Retraso en el desarrollo por déficit de MMSDH Ritardo dello sviluppo da deficit di ALDH6A1 Ritardo dello sviluppo da deficit di MMSDH Atraso do desenvolvimento por deficiência de metilmalonato semialdeído desidrogenase Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency Entwicklungsverzögerung durch Methylmalonat-Semialdehyd-Dehydrogenase-Mangel Retard de développement lié à un déficit en déshydrogénase méthylmalonate semialdéhyde Retraso en el desarrollo por déficit de metilmalonato semialdehído deshidrogenasa Ritardo dello sviluppo da deficit di metilmalonato semialdeide deidrogenasi hrdo:pat_id_2071 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 236660 2181 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Daish-Hardman-Lamont syndrome Daish-Hardman-Lamont, síndrome de Daish-Hardman-Lamont-Syndrom Sindrome di Daish-Hardman-Lamont Syndrome de Daish-Hardman-Lamont Síndrome de Daish-Hardman-Lamont Síndrome de Daish-Hardman-Lamont Hidrocefalia - estatura alta - laxidez articular Hidrocefalia - talla alta - hiperlaxitud Hydrocephaly - tall stature - joint laxity Hydrocéphalie - grande taille - hyperlaxité Hydrozephalus - Hochwuchs - Gelenkschlaffheit Idrocefalo - alta statura - iperlassità hrdo:pat_id_20711 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 159580 neant G04.1 289326 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown HAM/TSP HAM/TSP HAM/TSP HAM/TSP HAM/TSP HAM/TSP HTLV-1-associated myelopathy/tropical spastic paraparesis HTLV-1-assoziierte Myelopathie Human T-lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis Human T-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis Humane T-lymphotrope Virus 1-assoziierte Myelopathie/Tropische Spastische Paraparese Mielopatia associada ao HTLV-1/paraparésia espástica tropical Mielopatia associada ao vírus linfotrópico-T humano tipo 1/paraparésia espástica tropical Mielopatia associada ao vírus linfotrópico-T humano tipo I/paraparésia espástica tropical Myélopathie associée au HTLV-1 Paraparesi spastica tropicale/mielopatia associata a HTLV-1 Paraparesi spastica tropicale/mielopatia associata a virus T-linfotropico umano tipo 1 Paraparesi spastica tropicale/mielopatia associata a virus T-linfotropico umano tipo I Paraparesia espástica tropical/mielopatía asociada al HTLV-1 Paraparesia espástica tropical/mielopatía asociada al virus linfotrópico de células T humanas tipo 1 Paraparesia espástica tropical/mielopatía asociada al virus linfotrópico de células T humanas tipo I Paraparésie spastique tropicale associée au HTLV1 Paraparésie spastique tropicale associée au virus T-lymphotrope humain de type 1 Paraparésie spastique tropicale associée au virus T-lymphotrope humain de type I TSP TSP TSP TSP TSP TSP Paraparesi spastica tropicale Paraparesia espástica tropical Paraparésia espástica tropical Paraparésie spastique tropicale Tropical spastic paraparesis Tropische Spastische Paraparese hrdo:pat_id_20712 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant L30.3 289347 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Dermatite infeciosa associada a vírus linfotrópico-T humano, tipo 1 Dermatite infeciosa associada a vírus linfotrópico-T humano, tipo I Dermatite infectieuse associée au virus T-lymphotrope humain de type 1 Dermatite infectieuse associée au virus T-lymphotrope humain de type I Dermatite infettiva associata a virus T-linfotropico umano tipo 1 Dermatite infettiva associata a virus T-linfotropico umano tipo I Dermatitis infecciosa asociada al virus linfotrópico de células T humanas tipo 1 Dermatitis infecciosa asociada al virus linfotrópico de células T humanas tipo I IDH IDH IDH IDH IDH IDH Infective dermatitis associated with human T-lymphotropic virus type 1 Infective dermatitis associated with human T-lymphotropic virus type I Infektiöse Dermatitis mit assoziierter humaner T-lymphotroper Virus 1-Infektion Dermatite infecciosa associada com HTLV-1 Dermatite infectieuse associée au HTLV-1 Dermatite infettiva associata a HTLV-1 Dermatitis infecciosa asociada al HTLV-1 Infective dermatitis associated with HTLV-1 Infektiöse Dermatitis mit assoziiertem HTLV-1 hrdo:pat_id_20713 neant C56 289356 disease NGCO NGCO NGCO NGCO NGCO NGCO Choriocarcinome non gestationnel Coriocarcinoma ovarico non gestazionale Coriocarcinoma ovárico no gestacional Coriocarcinoma ovárico não gestacional Non-gestational ovarian choriocarcinoma Ovarielles Chorionkarzinom, nicht-gestationales hrdo:pat_id_20714 289362 disease Carcinoma embrionario extracraneal Carcinoma embrionário extracraniano Carcinoma extracranico embrionale Carcinome embryonnaire extracrânien Embryonalkarzinom, extrakraniales Extracranial embryonal carcinoma hrdo:pat_id_20715 Variabel Variabile Variable Variable Variable Variable Variável 610878 613674 neant N13.7 289365 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Familial VUR Familiärer VUR RVU familial VUR familial VUR familiar VUR familiar VUR familiare Familial vesicoureteral reflux Reflujo vesicoureteral familiar Reflusso vescico-ureterale familiare Reflux vésico-urétéral familial Refluxo vesico-ureteral familiar Vesicoureteraler Reflux, familiäre Form hrdo:pat_id_20718 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 611705 neant G71.8 289377 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Early-onset myopathy with fatal cardiomyopathy Miopatia a esordio precoce con cardiomiopatia fatale Miopatia de início precoce com miocardiopatia fatal Miopatía de aparición temprana con miocardiopatía letal Myopathie mit fataler Kardiomyopathie, früh-beginnende Form Myopathie précoce avec cardiomyopathie létale hrdo:pat_id_20719 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 255600 neant G71.8 289380 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Congenital myosclerosis, Löwenthal type Mioesclerosis congénita, tipo Löwenthal Miosclerose congénita, tipo Löwenthal Miosclerosi congenita, tipo Löwenthal Myosclérose congenitale, type Löwenthal Myosklerose, kongenitale, Typ Löwenthal Mioesclerosis Miosclerose Miosclerosi Myosclerosis Myosclérose Myosklerose hrdo:pat_id_2072 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis 2186 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Daentl-Townsend-Siegel syndrome Daentl-Townsend-Siegel, síndrome de Daentl-Townsend-Siegel-Syndrom Sindrome di Daentl-Townsend-Siegel Syndrome de Daentl-Townsend-Siegel Síndrome de Daentl-Townsend-Siegel Síndrome de Daentl-Townsend-Siegel Hidrocefalia - escleróticas azuis - nefropatia Hidrocefalia - escleróticas azules - nefropatía Hydrocephalus - blue sclerae - nephropathy Hydrocéphalie - sclérotiques bleues - néphropathie Hydrozephalus - blaue Sklera - Nephropathie Idrocefalo - sclere blu - nefropatia hrdo:pat_id_20720 289385 particular clinical situation in a disease or syndrome Cancer diagnosed during pregnancy Cancro diagnosticato in gravidanza Cancer diagnostiqué pendant la grossesse Cancro diagnosticado durante a gravidez Cáncer diagnosticado durante el embarazo Krebsdiagnose in der Schwangerschaft Malignancy diagnosed during pregnancy Tumore maligno diagnosticato in gravidanza hrdo:pat_id_20721 neant M35.0 289390 disease Primary Sjögren-Gougerot syndrome Sindrome di Sjögren-Gougerot primitiva Sjögren-Gougerot-Syndrom, primäres Syndrome de Sjögren primaire Síndrome de Sjögren-Gougerot primario Síndrome de Sjögren-Gougerot primário Primary Sjögren's syndrome Sindrome di Sjögren primitiva Sjögren-Syndrom, primäres Syndrome de Gougerot-Sjögren primaire Síndrome de Sjögren primario Síndrome de Sjögren primário hrdo:pat_id_20722 neant M35.0 289395 disease Secondary Sjögren-Gougerot syndrome Sindrome di Sjögren-Gougerot secondaria Sjögren-Gougerot-Syndrom, sekundäres Syndrome de Sjögren secondaire Síndrome de Sjögren-Gougerot secundario Síndrome de Sjögren-Gougerot secundário Secondary Sjögren's syndrome Sindrome di Sjögren seconadaria Sjögren-Syndrom, sekundäres Syndrome de Gougerot-Sjögren secondaire Síndrome de Sjögren secundario Síndrome de Sjögren secundário hrdo:pat_id_20723 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 136000 neant 289465 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Absence d'empreinte digitale Absence de dermatoglyphe Absence of fingerprints Assenza delle impronte digitali Ausencia de huellas dactilares Ausência de dermatoglifos Ausência de impressões digitais Einwanderungsverzögerungskrankheit Enfermedad del retraso de la inmigración Fehlende Papillarleisten Immigration delay disease Malattia da ritardo nel visto di immigrazione Adermatoglifia aislada Adermatoglifia isolada Adermatoglifia isolata Adermatoglyphie isolée Adermatoglyphie, isolierte Isolated adermatoglyphia hrdo:pat_id_20725 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 289478 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown PASH syndrome PASH-Syndrom Sindrome PASH Syndrome PASH Síndrome PASH Síndrome PASH Pioderma gangrenoso - acne - idroadenite suppurativa Pioderma gangrenoso - acné - hidradenitis supurativa Pyoderma gangrenosum - Akne - Hidradenitis suppurativa Pyoderma gangrenosum - acne - hidradenite supurativa Pyoderma gangrenosum - acne - hidradénite suppurée Pyoderma gangrenosum - acne - suppurative hidradenitis hrdo:pat_id_20726 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300858 neant 289483 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficit cognitivo - alacrimia - acalasia Défice intelectual - alacrima - acalasia Déficit intelectual - alacrimia - acalasia Déficit intellectuel - alacrimie - achalasie Inteligenzminderung - Alakrimie - Achalasie Intellectual deficit - alacrima - achalasia hrdo:pat_id_20728 289494 group of phenomes Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism Hypomyelinisierte Leukodystrophie mit oder ohne Oligodentie und/oder Hypogonadismus Leucodistrofia hipomielinizante com ou sem oligondontia e/ou hipogonadismo Leucodistrofia hipomielinizante con o sin oligodontia y/o hipogonadismo Leucodistrofia ipomielinizzante con o senza oligodontia e/o ipogonadismo Leucodystrophie hypomyélinisante avec ou sans oligodontie et/ou hypogonadisme hrdo:pat_id_20730 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 289499 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CCMCO CCMCO CCMCO CCMCO CCMCO CCMCO Cataracte congenitale - microcornée - opacité cornéenne Catarata congénita con microcórnea y opacidad corneal Cataratta congenita con microcornea e opacità corneale Congenital cataract microcornea with corneal opacity Katarakt, kongenitale - Mikrokornea - Hornhauttrübung Microcornea - cataratas congénitas - opacidade da córnea hrdo:pat_id_20731 Variabel Variabile Variable Variable Variable Variable Variável 614265 neant E71.1 289504 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Aciduria malónica y metilmalónica combinada Aciduria metilmalonica e malonica combinata Acidurie malonique et méthylmalonique combinée Acidúria combinada malónica e metilmalónica CMAMMA CMAMMA CMAMMA CMAMMA CMAMMA CMAMMA Combined malonic and methylmalonic aciduria Acidemia combinada malónica e metilmalónica Acidemia malónica y metilmalónica combinada Acidemia metilmalonica e malonica combinata Acidémie malonique et méthylmalonique combinée Combined malonic and methylmalonic acidemia Malon- und Methylmalonazidurie, kombinierte hrdo:pat_id_20733 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q93.5 289513 disease Del(12)(q15)(q21.1) Del(12)(q15)(q21.1) Del(12)(q15)(q21.1) Del(12)(q15)(q21.1) Del(12)(q15)(q21.1) Del(12)(q15)(q21.1) Deleción 12q15q21.1 Deletion 12q15q21.1 Deletion 12q15q21.1 Delezione 12q15q21.1 Deleção 12q15q21.1 Délétion 12q15q21.1 Monosomia 12q15q21.1 Monosomie 12q15q21.1 Monosomie 12q15q21.1 Monosomy 12q15q21.1 Monosomía 12q15q21.1 Monossomia 12q15q21.1 12q15q21.1 microdeletion syndrome Mikrodeletionssyndrom 12q15q21.1 Sindrome da microdelezione 12q15q21.1 Syndrome de microdélétion 12q15q21.1 Síndrome de microdeleción 12q15q21.1 Síndrome de microdeleção 12q15q21.1 hrdo:pat_id_20734 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant Q99.8 289522 malformation syndrome Tetrasomia 11q24.1 Tetrasomie 11q24.1 Tetrasomy 11q24.1 Tetrasomía 11q24.1 Tetrassomia 11q24.1 Tétrasomie 11q24.1 Microtriplicación 11q24.1 Microtriplication 11q24.1 Microtriplication 11q24.1 Microtriplicazione 11q24.1 Microtriplicação 11q24.1 Mikrotriplikation 11q24.1 hrdo:pat_id_20735 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 252010 neant 289527 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cardiomiopatia ipertrofica infantile fatale da deficit di NADH-CoQ reduttasi Cardiomiopatia ipertrofica infantile fatale da deficit di NADH-coenzima Q reduttasi Cardiomyopathie hypertrophique infantile létale par déficit en NADH-coenzyme Q reductase Cardiomyopathie hypertrophique infantile létale par déficit en complexe I de la chaine respiratoire mitochondriale Fatal infantile HCM due to mitochondrial complex I deficiency Fatal infantile hypertrophic cardiomyopathy due to NADH-CoQ reductase deficiency Fatal infantile hypertrophic cardiomyopathy due to NADH-coenzyme Q reductase deficiency Fatale infantile HCM durch Defekt im Atmungskettenkomplex I HCEM infantil letal por deficiencia del complejo I mitocondrial HCEM infantil letal por déficit del complejo I mitocondrial HCM infantil fatal por deficiência do complexo I mitocondrial HCM infantile fatale da deficit del complesso I mitocondriale Hypertrophe Kardiomyopathie, fatale infantile, durch NADH-CoQ-Reduktase Mangel, Hypertrophe Kardiomyopathie, fatale infantile, durch due to NADH-Coenzym-Q-Reduktase-Mangel Miocardiopatia hipertrófica infantil fatal por deficiência da NADH-CoQ redutase Miocardiopatia hipertrófica infantil fatal por deficiência da NADH-Coenzima Q redutase Miocardiopatía hipertrófica infantil letal por deficiencia de NADH-CoQ reductasa Miocardiopatía hipertrófica infantil letal por deficiencia de NADH-coenzima Q reductasa Miocardiopatía hipertrófica infantil letal por deficiencia del complejo I mitocondrial Miocardiopatía hipertrófica infantil letal por déficit de NADH-CoQ reductasa Miocardiopatía hipertrófica infantil letal por déficit de NADH-coenzima Q reductasa Cardiomiopatia ipertrofica infantile fatale da deficit del complesso I mitocondriale Cardiomyopathie hypertrophique infantile létale par déficit en NADH-CoQ reductase Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency Hypertrophe Kardiomyopathie, fatale infantile, durch Komplex I-Defekt der mitochondriale Atmungskette Miocardiopatia hipertrófica infantil fatal por deficiência do complexo I mitocondrial Miocardiopatía hipertrófica infantil letal por déficit del complejo I mitocondrial hrdo:pat_id_20737 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 614327 neant 289539 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate particular clinical situation in a disease or syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Susceptibilidad tumoral relacionada con mutaciones en la línea germinal de BAP1 Susceptibilidade para tumor ligado a mutações germinativas em BAP1 Suscettibilità ai tumori legata alle mutazioni germinali di BAP1 Tumor susceptibility linked to germline BAP1 mutations BAP1-related tumor predisposition syndrome Prédisposition au développement tumoral lié à BAP1 Sindrome da predisposizione ai tumori legata a BAP1 Síndrome de predisposición tumoral relacionado con BAP1 Síndrome de predisposição a tumor relacionado com BAP1 Tumor-Prädispositionssyndrom, BAP1-bedingtes hrdo:pat_id_20739 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 289548 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CYP11A1-Mangel, partieller Deficit parziale di CYP11A1 Deficiência parcial de CYP11A1 Insuficiencia suprarrenal hereditaria aislada por deficiencia de CYP11A1 Inherited isolated adrenal insufficiency due to CYP11A1 deficiency Insufficienza surrenalica isolata ereditaria Insuffisance surrénalienne héréditaire isolée par déficit en CYP11A1 Insuficiencia suprarrenal hereditaria aislada por déficit de CYP11A1 Insuficiência isolada da supra-renal, hereditária Nebenniereninsuffizienz, isolierte vererbte hrdo:pat_id_20740 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 615102 neant Q87.8 289553 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Dismorfias - surdez de condução - anomalia cardíaca Dismorfismi - perdita conduttiva dell'udito - cardiopatia Dismorfismo - pérdida de audición conductiva - defecto cardíaco Dysmorphie - surdité de transmission - malformation cardiaque Dysmorphien - Schallleitungsschwerhörigkeit - Herzfehler Dysmorphism - conductive hearing loss - heart defect hrdo:pat_id_20741 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 614298 neant G23.0 289560 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown MPAN MPAN MPAN MPAN MPAN MPAN Mitochondrial membrane protein associated neurodegeneration NBIA da mutazione in C19orf12 NBIA due to C19orf12 mutation NBIA durch C19orf12-Gen-Mutation NBIA liée à des mutations de C19orf12 NBIA por mutación en C19orf12 NBIA por mutação em C19orf12 NBIA5 NBIA5 Neurodegeneración asociada a la proteína de membrana mitocondrial Neurodegeneration durch assoziierte Protein-Störungen der Mitochondrienmembran Neurodegeneration with brain iron accumulation type 5 Neurodegenerazione associata a proteine della membrana mitocondriale Neurodegenerescência associada a proteina da membrana mitocondrial Neurodégénérescence associée à la protéine de membrane mitochondriale Neurodégénérescence avec surcharge cérébrale en fer type 5 Neurodegeneración con acumulación cerebral de hierro por mutación en C19orf12 Neurodegeneration mit Eisenspeicherung im Gehirn durch C19orf12-Gen-Mutation Neurodegeneration with brain iron accumulation due to C19orf12 mutation Neurodegenerazione con accumulo cerebrale di ferro da mutazione in C19orf12 Neurodegenerescência com acumulação cerebral de ferro por mutação em C19orf12 Neurodégénérescence avec surcharge cérébrale en fer liée à des mutations de C19orf12 hrdo:pat_id_20743 605711 614299 neant 289573 disease Fatal multiple mitochondrial dysfunction syndrome Mitochondriales Dysfunktionssyndrom, fatales multiples Sindrome da disfunzione mitocondriale multipla fatale Syndrome létal de dysfonctionnement mitochondrial multiple Síndrome de disfunción mitocondrial múltiple letal Síndrome de disfunção mitocondrial múltipla, fatal hrdo:pat_id_20746 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 607936 neant Q80.8 289586 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Autosomal recessive exfoliative ichthyosis Ichthyose, exfoliative, autosomal-rezessive Ichthyosis exfoliativa Ichtyose exfoliative autosomique recessive Ictiose exfoliativa, autossómica recessiva Ictiosis exfoliante autosómica recesiva Ittiosi esfoliativa autosomica recessiva Exfoliative ichthyosis Ichthyose, exfoliative Ichtyose exfoliative Ictiose exfoliativa Ictiosis exfoliante Ittiosi esfoliativa hrdo:pat_id_20748 neant D10.6 289596 disease JNA JNA JNA JNA JNA JNA Angiofibroma nasofaringeo giovanile Angiofibroma nasofaríngeo juvenil Angiofibroma nasofaríngeo juvenil Angiofibrome nasopharyngé juvénile Juvenile nasopharyngeal angiofibroma Nasopharyngeales Angiofibrom, juveniles hrdo:pat_id_20749 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 211800 neant 289601 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hereditary arterial and articular multiple calcification syndrome Kalzifikation der Gelenke und Arterien, hereditäre Form Sindrome da calcificazioni arteriose e articolari multiple ereditarie Syndrome héréditaire de calcification artérielle et articulaire Síndrome de calcificación arterial y articular múltiple hereditaria Síndrome hereditário de calcificações múltiplas articular e arterial hrdo:pat_id_2075 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 236680 614120 C536079 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Hydrolethalus Q87.8 2189 C2931104 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Síndrome hidroletal Hidroletal Hydrolethalus Hydrolethalus Hydrolethalus-Syndrom Idroletale Síndrome hydrolethalus hrdo:pat_id_20751 289635 group of phenomes Rare virus induced tumor Seltene Virus-induzierte Tumoren Tumeur rare associée à un virus Tumor inducido por un virus raro Tumor raro induzido por vírus Tumore raro indotto da virus hrdo:pat_id_20752 289638 group of phenomes EBV-related tumor Tumeur associée à l'EBV Tumor asociado al EBV Tumor relacionado com EBV Tumor, EBV-assoziierter Tumore associato a EBV Epstein-Barr Virus-assoziierter Tumor Epstein-Barr Virus-related tumor Tumeur associée au virus Epstein-Barr Tumor relacionado com vírus Epstein-Barr Tumor relacionado con el virus de Epstein-Barr Tumore associato al virus di Epstein-Barr hrdo:pat_id_20753 289644 group of phenomes Doença linfoproliferativa associada com EBV EBV- associated lymphoproliferative disorder Lymphoproliferative Krankheit, EBV-assoziierte Malattia linfoproliferativa associata a EBV Syndrome lymphoprolifératif associé à l'EBV Trastorno linfoproliferativo asociado al EBV Doença linfoproliferativa associada com o vírus Epstein-Barr Epstein-Barr Virus-associated lymphoproliferative disorder Epstein-Barr Virus-assoziierte lymphoproliferative Krankheit Malattia linfoproliferativa associata al virus di Epstein-Barr Syndrome lymphoprolifératif associé au virus Epstein-Barr Trastorno linfoproliferativo asociado al virus de Epstein-Barr hrdo:pat_id_20754 289651 group of phenomes Carcinoma asociado al EBV Carcinoma associado com EBV Carcinoma associato a EBV Carcinome associé à l'EBV EBV-associated carcinoma Karzinom, EBV-assoziiertes Carcinoma asociado al virus de Epstein-Barr Carcinoma associado com o vírus Epstein-Barr Carcinoma associato al virus di Epstein-Barr Carcinome associé au virus Epstein-Barr Epstein-Barr Virus-associated carcinoma Epstein-Barr Virus-assoziiertes Karzinom hrdo:pat_id_20755 289656 group of phenomes EBV-associated mesenchymal tumor Mesenchymaler Tumor, EBV-assoziierter Tumeur mésenchymateuse associée à l'EBV Tumor mesenquimal asociado al EBV Tumor mesenquimatoso associado ao EBV Tumore mesenchimale associato a EBV Epstein-Barr Virus-associated mesenchymal tumor Epstein-Barr Virus-assoziierter mesenchymaler Tumor Tumeur mésenchymateuse associée au virus Epstein-Barr Tumor mesenquimal asociado al virus de Epstein-Barr Tumor mesenquimatoso associado com o vírus Epstein-Barr Tumore mesenchimale associata al virus di Epstein-Barr hrdo:pat_id_20756 neant C83.3 289661 disease DLBCL EBV-positivo in età avanzata DLBCL positif à l'EBV chez les personnes âgées DLBCL positivo al EBV en ancianos DLBCL positivo para EBV, do idoso EBV-positive DLBCL des älteren Erwachsenen EBV-positive DLBCL of the elderly Epstein-Barr Virus-positive diffuse großzellige B-Zell-Lymphom des älteren Erwachsenen Epstein-Barr Virus-positive diffuse large B cell lymphoma of the elderly Linfoma B difuso de grandes células positivo para o vírus Epstein-Barr, do idoso Linfoma diffuso a grandi cellule B positivo al virus di Epstein-Barr in età avanzata Linfoma difuso de células B grandes positivo al virus de Epstein-Barr en ancianos Lymphome B diffus à grandes cellules positif au virus Epstein-Barr chez les personnes âgées hrdo:pat_id_20757 neant C83.3 289666 disease PBL PBL PBL PBL PBL PBL Linfoma plasmablástico Linfoma plasmablástico Linfoma plasmoblastico Lymphom, plasmoblastisches Lymphome plasmablastique Plasmablastic lymphoma hrdo:pat_id_20758 289682 disease Carcinoma de tipo linfoepitelial Carcinoma linfoepitelial-like Carcinoma simil-linfoepiteliale Carcinome lympho-épithélial-like Karzinom, lymphoepitheliomartiges Lymphoepithelial-like carcinoma hrdo:pat_id_20759 289685 disease Miopericitoma Miopericitoma Miopericitoma Myopericytoma Myoperizytom Myopéricytome hrdo:pat_id_2076 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 10050975 neant Q62.0 2190 16297002 C0266316 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Congenital hydronephrosis Hidronefrose congénita Hidronefrosis congénita Hydronephrose, kongenitale Hydronéphrose congénitale Idronefrosi congenita hrdo:pat_id_20760 neant I89.0 289825 group of phenomes Late-onset primary lymphedema Linfedema primario de aparición tardía Linfedema primitivo a esordio tardivo Linfedema primário de início tardio Lymphoedème primaire tardif Lymphödem, primäres, spät-beginnendes hrdo:pat_id_20761 neant E70.8 289829 group of phenomes Difetto del metabolismo del triptofano Disorder of tryptophan metabolism Doença do metabolismo do triptofano Trastorno del metabolismo del triptofano Trouble du métabolisme du tryptophane Tryptophan-Stoffwechselstörung hrdo:pat_id_20762 neant E72.3 289832 group of phenomes Difetto del metabolismo della lisina e dell'idrossilisina Disorder of lysine and hydroxylysine metabolism Doença do metabolismo da lisina e hidroxilisina Lysin und Hydroxylysin-Stoffwechselstörung Trastorno del metabolismo de la lisina y la hidroxilisina Trouble du métabolisme de la lysine et de l'hydroxylysine hrdo:pat_id_20763 neant E72.8 289841 group of phenomes Difetto del metabolismo della glutammina Disorder of glutamine metabolism Doença do metabolismo da glutamina Glutamin-Stoffwechselstörung Trastorno del metabolismo de la glutamina Trouble de métabolisme de la glutamine hrdo:pat_id_20764 266130 neant D55.1 289846 clinical subtype Deficiencia de glutatión sintetasa con 5-oxoprolinuria Deficit di glutatione sintetasi con 5-oxoprolinuria Deficiência da glutationa sintetase com 5-oxoprolinuria Déficit de glutatión sintetasa con 5-oxoprolinuria Déficit en glutathion synthétase avec 5-oxoprolinurie Glutathione synthetase deficiency with 5-oxoprolinuria Glutathionsynthetase-Mangel mit 5-Oxoprolinurie hrdo:pat_id_20765 231900 neant D55.1 289849 clinical subtype Deficiencia de glutatión sintetasa sin 5-oxoprolinuria Deficit di glutatione sintetasi senza 5-oxoprolinuria Deficiência da glutationa sintetase sem 5-oxoprolinuria Déficit de glutatión sintetasa sin 5-oxoprolinuria Déficit en glutathion synthétase sans 5-oxoprolinurie Glutathione synthetase deficiency without 5-oxoprolinuria Glutathionsynthetase-Mangel ohne 5-Oxoprolinurie hrdo:pat_id_20766 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant E72.5 289857 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Classic glycine encephalopathy Encéphalopathie glycinique classique Encefalopatia da glicina neonatale Encefalopatia neonatal por glicínica Encefalopatía por glicina neonatal Encéphalopathie néonatale glycinique Glycin-Enzephalopathie, neonatale Neonatal glycine encephalopathy hrdo:pat_id_20767 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant E72.5 289860 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Encefalopatia da glicina infantile Encefalopatia infantil por glicínica Encefalopatía infantil por glicina Encéphalopathie infantile glycinique Glycin-Enzephalopathie, infantile Infantile glycine encephalopathy hrdo:pat_id_20768 Variabel Variabile Variable Variable Variable Variable Variável neant E72.5 289863 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atypical glycine encephalopathy Encefalopatia atípica por glicínica Encefalopatia da glicina atipica Encefalopatía atípica por glicina Encéphalopathie glycinique atypique Glycin-Enzephalopathie, atypische hrdo:pat_id_20769 neant E72.8 289866 group of phenomes Difetto del metabolismo della prolina Disorder of proline metabolism Doença do metabolismo da prolina Prolin-Stoffwechselstörung Trastorno del metabolismo de la prolina Trouble du métabolisme de la proline hrdo:pat_id_20770 neant E72.4 289869 group of phenomes Difetto del metabolismo dell'ornitina Disorder of ornithine metabolism Doença do metabolismo da ornitina Ornithin-Stoffwechselstörung Trastorno del metabolismo de la ornitina Trouble du métabolisme de l'ornithine hrdo:pat_id_20771 neant P74.8 289877 particular clinical situation in a disease or syndrome Hiperamonemia transitoria del recién nacido Hiperamonémia transitória do recém nascido Hyperammoniémie transitoire du nouveau-né Iperammoniemia transitoria neonatale Transient hyperammonemia of the newborn Transiente Hyperammonämie des Neugeborenen hrdo:pat_id_20772 606664 neant E72.1 289891 disease Deficiencia de glicina N-metiltransferasa Deficit di glicina N-metiltransferasi Deficiência de glicina N-metiltransferase Déficit de glicina N-metiltransferasa Glycin N-Methyltransferase-Mangel Glycine N-methyltransferase deficiency Hipermetioninemia por deficiencia de GNMT Hipermetioninemia por deficiencia de glicina N-metiltransferasa Hipermetioninemia por deficiência do GNMT Hipermetioninemia por déficit de GNMT Hypermethioninemia due to GNMT deficiency Hypermethioninämie durch GNMT-Mangel Hyperméthioninémie par déficit en GNMT Ipermetioninemia da deficit di GNMT Hipermetioninemia por deficiência glicina N-metiltransferase Hipermetioninemia por déficit de glicina N-metiltransferasa Hypermethioninemia due to glycine N-methyltransferase deficiency Hypermethioninämie durch Glycin N-Methyltransferase-Mangel Hyperméthioninémie par déficit en glycine N-methyltransférase Ipermetioninemia da deficit di glicina-N-metiltransferasi hrdo:pat_id_20774 289899 group of phenomes Aciduria organica Aciduria orgánica Acidurie organique Acidúria orgânica Organic aciduria Organische Azidurie hrdo:pat_id_20775 neant E71.1 289902 group of phenomes 3-Methylglutaconazidurie 3-methylglutaconic aciduria Aciduria 3-metilglutaconica Aciduria 3-metilglutacónica Acidurie 3-méthylglutaconique Acidúria 3-metilglutacónica hrdo:pat_id_20777 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 251000 neant 289916 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Acidemia metilmalonica refrattaria alla vitamina B12, tipo mut0 Acidemia metilmalónica sensível à vitamina B12, tipo mut 0 Aciduria metilmalonica refrattaria alla vitamina B12, tipo mut0 Aciduria metilmalónica resistente a vitamina B12, tipo mut 0 Acidurie méthylmalonique résistante à la vitamine B12 type mut0 Acidúria metilmalónica sensível à vitamina B12, tipo mut 0 Complete deficiency of methylmalonyl-CoA mutase Deficiência completa de metilmalonil-CoA epimerase Deficiência completa de metilmalonil-CoA racemase Déficit complet en methymalonyl-CoA mutase Déficit completo de metilmalonil-CoA mutasa Methylmalonazidämie, Vitamin-B12-resistente Form, Typ mut 0 Methylmalonyl-CoA-Epimerase-Mangel, kompletter Methylmalonyl-CoA-Racemase-Mangel, kompletter Vitamin B12-unresponsive methylmalonic aciduria type mut0 Acidemia metilmalónica resistente a vitamina B12 tipo mut 0 Acidémie méthylmalonique résistante à la vitamine B12 type mut0 Deficit completo di metilmalonil-CoA mutasi Deficiência completa do metilmalonil-CoA mutase Methylmalonyl-CoA-Mutase-Mangel, kompletter Vitamin B12-unresponsive methylmalonic acidemia type mut0 hrdo:pat_id_2078 248190 2196 disease Hipercalciuria - coloboma macular bilateral Hypercalciuria - bilateral macular coloboma Hypercalciurie - colobome bilatéral de la rétine Hyperkalziurie - bilaterales Makulakolobom Ipercalciuria - coloboma maculare bilaterale Meier-Blumberg-Imahorn syndrome Meier-Blumberg-Imahorn, síndrome de Meier-Blumberg-Imahorn-Syndrom Sindrome di Meier-Blumberg-Imahorn Syndrome de Meier-Blumberg-Imahorn Síndrome de Meier-Blumberg-Imahorn Síndrome de Meier-Blumberg-Imahorn Familial hypomagnesemia - hypercalciuria - nephrocalcinosis - severe ocular involvement Familiäre Hypomagnesiämie - Hyperkalziurie - Nephrokalzinose - Augenbeteiligung Hipercalciúria - coloboma da mácula Hipomagnesemia familiar - hipercalciuria - nefrocalcinosis - afectación ocular grave Hypomagnésémie - hypercalciurie - néphrocalcinose - atteinte oculaire sévère Ipomagnesemia familiare - ipercalciuria - nefrocalcinosi - grave coinvolgimento oculare hrdo:pat_id_20782 290836 group of phenomes Doença sistémica com envolvimento da pele Enfermedad sistémica con afectación de la piel Maladie systémique avec atteinte cutanée Malattia sistemica con coinvolgimento cutaneo Systemic disease with skin involvement Systemische Krankheit mit Hautbeteiligung hrdo:pat_id_20783 290839 group of phenomes Autoinflammatorisches Syndrom mit Immundefekt Autoinflammatory syndrome with immune deficiency Sindrome autoinfiammatoria con immunodeficienza Syndrome auto-inflammatoire avec immunodéficience Síndrome auto-inflamatório com deficiência imunitária Síndrome autoinflamatorio con inmunodeficiencia hrdo:pat_id_20784 290842 group of phenomes Autoinflammatorisches Syndrom mit Hautbeteiligung Autoinflammatory syndrome with skin involvement Sindrome autoinfiammatoria con coinvolgimento cutaneo Syndrome auto-inflammatoire avec atteinte cutanée Síndrome auto-inflamatório com envolvimento da pele Síndrome autoinflamatorio con afectación de la piel hrdo:pat_id_20785 290849 group of phenomes Rare head and neck tumor Seltener Kopf-Hals-Tumor Tumeur rare de la tête et du cou Tumor raro da cabeça e pescoço Tumor raro de cabeza y cuello Tumore raro della testa e del collo hrdo:pat_id_2079 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 113800 607602 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=bullous+ichthyosiform*%5Bti%5D+erythroderma%5Bti%5D+congenita*%5Bti%5D+OR+Hyperkeratosis%2C+Epidermolytic%5Bmajr%5D Q80.3 312 C0079153 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 BCIE BCIE BCIE Bullous congenital ichthyosiform erythroderma Bullous congenital ichthyosiform erythroderma of Brock Bullous ichthyosis ECIB EHK EHK EHK EHK EHK EI EI EI EI EI Epidermolytic hyperkeratosis Eritroderma ittiosiforme bolloso congenito Eritrodermia ictiosiforme congénita ampollosa Eritrodermia ictiosiforme congénita ampollosa de Brock Eritrodermia ictiosiforme congénita bullosa Eritrodermia ictiosiforme congénita bullosa de Brock Erythrodermie congénitale ichtyosiforme bulleuse Erythrodermie congénitale ichtyosiforme bulleuse de Brock Erythrodermie, ichthyosiforme kongenitale, bullöse Form Hiperqueratose epidermolítica Hiperqueratosis epidermolítica Hyperkeratose, epidermolytische Hyperkératose épidermolytique Ictiosis ampollosa Ictiosis bullosa Ipercheratosi epidermolitica Epidermolytic ichthyosis Eritrodermia ictiosiforme bolhosa congénita Ichthyose, epidermolytische Ichtyose épidermolytique Ictiosis epidermolítica Ittiosi epidermolitica hrdo:pat_id_208 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 607411 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22ductus+arteriosus%2C+patent/genetics%22%5BMajr%5D+AND+%28familial%5Btw%5D+OR+family%5Btw%5D+OR+families%5Btw%5D%29 Q25.0 706 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel morphological anomaly 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Canal arterial patente Conducto arterioso permeable persistente Dotto arterioso pervio persistente Ductus arterioso persistente Offener Ductus arteriosus Botalli Offener Ductus arteriosus, familiäre Form PAD PAD PAD PAD PCA Patent ductus arteriosus Persistencia del ductus arterioso Persistent patency of the arterial duct Dotto arterioso pervio Patent arterial duct Persistance du canal artériel Persistencia del conducto arterioso Persistierender Ductus arteriosus Persistência do canal arterial hrdo:pat_id_2080 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 148500 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(tylosis%5Bti%5D+OR+Keratoderma,+Palmoplantar)+(Esophageal+Neoplasms+OR+(esophag*%5Bti%5D+(cancer%5Bti%5D+OR+carcinom*%5Bti%5D))) 2198 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Bennion-Patterson syndrome Bennion-Patterson, síndrome de Bennion-Patterson-Syndrom Howell-Evans syndrome Keratosis palmoplantaris-esophageal carcinoma syndrome Palmoplantar hyperkeratosis-esophageal carcinoma syndrome Sindrome cheratosi palmoplantare-carcinoma esofageo Sindrome di Bennion-Patterson Sindrome di Howell-Evans Sindrome ipercheratosi palmoplantare-carcinoma esofageo Syndrome d'Howell-Evans Syndrome d'hyperkératose palmoplantaire-carcinome de l'oesophage Syndrome de Bennion-Patterson Síndrome de Bennion-Patterson Síndrome de Bennion-Patterson Síndrome de Howell-Evans Síndrome de hiperqueratosis palmoplantar - carcinoma esofágico Síndrome de queratosis palmoplantar - carcinoma esofágico Tilose - carcinoma do esófago Tilosi - carcinoma esofageo Tilosis - carcinoma esofágico Tylose - cancer de l'oesophage Tylosis - Speiseröhrenkarzinom Tylosis - oesophageal carcinoma Palmoplantar keratoderma-esophageal carcinoma syndrome Palmoplantarkeratose - Ösophageales Karzinom Queratose palmo-plantar - carcinoma esofágico Sindrome cheratoderma palmoplantare-carcinoma esofageo Syndrome de kératodermie palmoplantaire-carcinome de l'oesophage Síndrome de queratodermia palmoplantar - carcinoma esofágico hrdo:pat_id_2081 133200 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Keratoderma,+Palmoplantar%5Bmajr%5D+OR+Keratoderma+palmoplantar*%5Bti%5D)+(transgrediens+OR+greither+OR+greither+s%5Btw%5D+OR+variabilis) Q82.8 495 disease Cheratoderma palmoplantare diffuso progressivo Cheratoderma palmoplantare transgrediens e progrediens Enfermedad de Greither Greither's disease KPP diffuse progressive KPP transgrediens et progrediens Keratoderma palmoplantaris transgrediens et progrediens Keratosis extremitatum hereditaria progrediens Keratosis extremitatum hereditaria progrediens Keratosis extremitatum hereditaria progrediens Keratosis extremitatum hereditaria progrediens Keratosis palmoplantaris transgrediens et progrediens Keratosis palmoplantaris transgrediens et progrediens Keratosis palmoplantaris transgrediens et progrediens Kératodermie palmoplantaire diffuse progressive Mal de Meleda Maladie de Greither Malattia di Greither PPK diffuso progressivo PPK difusa progresiva PPK transgrediens e progrediens PPK transgrediens y progrediens Progressive diffuse PPK Progressive diffuse palmoplantar keratoderma Queratodermia palmoplantar difusa progresiva Queratosis palmoplantar transgrediens y progrediens Queratosis progrediens hereditaria de las extremidades Transgrediens et progrediens PPK Greither-Syndrom Kératodermie palmoplantaire transgrediens et progrediens Malattia di Greither Queratodermia palmo-plantar transgrediens Queratodermia palmoplantar transgrediens y progrediens Transgrediens et progrediens palmoplantar keratoderma hrdo:pat_id_2082 144200 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Keratoderma+OR+Hyperkeratosis%29+palmoplantar*+%28epidermolytic+OR+vorner+OR+acanthokeratolytic%29+OR+Keratoderma+Palmoplantar+Epidermolytic Q82.8 2199 disease Cheratoderma palmoplantare epidermolitico di Voerner Cheratoderma palmoplantare epidermolitico di Vörner Cheratoderma palmoplantare eritrodermico diffuso, tipo Vörner Cheratodermia palmoplantare eritrodermico diffuso, tipo Voerner Diffuse erythrodermic palmoplantar keratoderma, Voerner type Diffuse erythrodermic palmoplantar keratoderma, Vörner type EPPK EPPK EPPK EPPK Epidermolytic palmoplantar keratoderma of Voerner Epidermolytic palmoplantar keratoderma of Vörner Hiperqueratose palmo-plantar localizada acantoqueratolítica Hyperkératose palmoplantaire épidermolytique KPP épidermolytique Kératodermie palmoplantaire épidermolytique de Voerner Kératodermie palmoplantaire épidermolytique de Vörner Kératodermie palmoplantaire érythrodermique diffuse type Voerner Kératodermie palmoplantaire érythrodermique diffuse type Vörner Queratodermia palmo-plantar epidermolítica tipo Vorner Queratodermia palmoplantar epidermolítica de tipo Voerner Queratodermia palmoplantar epidermolítica de tipo Vörner Queratodermia palmoplantar eritrodérmica difusa, tipo Voerner Queratodermia palmoplantar eritrodérmica difusa, tipo Vörner Cheratoderma palmoplantare epidermolitico Epidermolytic palmoplantar keratoderma Epiermolytische Hyperkeratose, lokalisierte palmoplantare Hiperqueratose palmo-plantar localizada epidermolítica Kératodermie palmoplantaire épidermolytique Queratodermia palmoplantar epidermolítica hrdo:pat_id_2083 148730 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Keratoderma%2C+Palmoplantar%5Bmh%5D+OR+Keratosis+palmoplantar*%5Bti%5D%29+%28focal+%28gingival+OR+oral+mucosa%29%29 Q82.8 2200 disease Focal palmoplantar and gingival hyperkeratosis Hiperqueratosis palmoplantar focal y gingival Hyperkératose palmoplantaire focale et gingivale Ipercheratosi gengivale e palmoplantare focale Keratose, fokale gingivale palmoplantare Cheratoderma gengivale e palmoplantare focale Focal palmoplantar and gingival keratoderma Kératodermie palmoplantaire focale et gingivale Palmoplantarkeratose, gingivale Queratodermia palmoplantar focal y gingival Queratose focal palmo-plantar e da gengiva hrdo:pat_id_20836 neant Q66.8 293144 etiological subtype Hereditary clubfoot due to 5q31 microdeletion Klumpfuß, hereditärer, durch Mikrodeletion 5q31 Pie zambo hereditario debido a una microdeleción 5q31 Pied bot héréditaire dû à une microdeletion 5q31 Piede torto ereditario da microdelezione 5q31 Pé boto hereditário por microdeleção 5q31 Familial clubfoot due to 5q31 microdeletion Klumpfuß, familiärer, durch Mikrodeletion 5q31 Pie zambo familiar debido a una microdeleción 5q31 Pied bot familial dû à une microduplication 5q31 microdeletion Piede torto familiare da microdelezione 5q31 Pé boto familiar por microdeleção 5q31 hrdo:pat_id_20837 119800 neant Q66.8 293150 etiological subtype Hereditary clubfoot due to PITX1 point mutation Klumpfuß, hereditärer, durch Punktmutation im PITX1-Gen Pie zambo hereditario debido a una mutación puntual de PITX1 Pied bot héréditaire dû à une mutation ponctuelle PITX1 Piede torto ereditario da mutazione puntiforme di PITX1 Pé boto hereditário por mutação pontual em PITX1 Familial clubfoot due to PITX1 point mutation Klumpfuß, familiärer, durch Punktmutation im PITX1-Gen Pie zambo debido a una mutación puntual de PITX1 Pied bot familial dû à une mutation ponctuelle de PITX1 Piede torto familiare da mutazione puntiforme di PITX1 Pé boto familiar por mutação pontual em PITX1 hrdo:pat_id_20838 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 607655 neant Q82.8 293165 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome fragilità cutanea-capelli lanosi-ipercheratosi palmoplantare Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome Syndrome de fragilité cutanée-cheveux laineux-hyperkératose palmoplantaire Síndrome de piel frágil - cabello lanoso - hiperqueratosis palmoplantar Fragile Haut - Wollhaare - Palmoplantarkeratose Sindrome fragilità cutanea-capelli lanosi- cheratoderma palmoplantare Skin fragility-woolly hair-palmoplantar keratoderma syndrome Syndrome de fragilité cutanée-cheveux laineux-kératodermie palmoplantaire Síndrome de piel frágil - cabello lanoso - queratodermia palmoplantar Síndrome fragilidade cutânea - cabelo lanoso - queratodermia palmoplantar hrdo:pat_id_20839 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 607225 neant G12.2 293168 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 IAHSP IAHSP IAHSP IAHSP IAHSP IAHSP Hereditäre Spastische Parese, aufsteigende, des frühen Kindesalters Infantile-onset ascending hereditary spastic paralysis Paralisi spastica ereditaria ascendente ad esordio infantile Paralisia espástica ascendente hereditária, de apresentação infantil Paralysie spastique infantile ascendante héréditaire Parálisis espástica hereditaria ascendente de aparición infantil hrdo:pat_id_2084 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Variabel Variabile Variable Variable Variable Variable Variável 148360 C536153 2201 C1835671 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Palmoplantar hyperkeratosis-spastic paralysis syndrome Powell-Venencie-Gordon syndrome Powell-Venencie-Gordon, síndrome de Powell-Venencie-Gordon-Syndrom Sindrome di Powell-Venencie-Gordon Sindrome ipercheratosi palmoplantare-paralisi spastica Syndrome d'hyperkératose palmoplantaire-spasticité Syndrome de Powell-Venencie-Gordon Síndrome de Powell-Venencie-Gordon Síndrome de Powell-Venencie-Gordon Síndrome de hiperqueratosis palmoplantar - parálisis espástica Palmoplantar keratoderma-spastic paralysis syndrome Palmoplantarkeratose - spastische Lähmung Queratodermia palmo-plantar - paralisia espástica Sindrome cheratoderma palmoplantare-paralisi spastica Syndrome de kératodermie palmoplantaire-spasticité Síndrome de queratodermia palmoplantar - parálisis espástica hrdo:pat_id_20840 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 293173 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch disease Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis AGEP AGEP AGEP AGEP AGEP Erupción pustulosa por medicamentos Erupção pustular por fármaco Eruzione pustolosa da farmaci PEAG PGEA Pustoloderma tossico Pustular drug eruption Pustuloderm, toxisches Pustuloderma tóxico Pustulodermia tóxica Pustulosis acuta generalisata Toxic pustuloderma Acute generalized exanthematous pustulosis Dermatitis, akute exanthematische generalisierte pustulöse Pustolosi esantematosa generalizzata acuta Pustulose exantemática generalizada aguda Pustulose exanthématique aiguë généralisée Pustulosis exantemática generalizada aguda hrdo:pat_id_20841 613722 614959 neant 293181 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Convulsiones parciales migratorias de la infancia Epilepsia parcial migratoria de la infancia Epilepsia parcial migratoria maligna de la infancia Epilepsia parcial migratória da infância Epilepsie avec crises partielles migrantes malignes Epilepsie der Kindheit, migrierende partielle Epilessia parziale migrante dell'infanzia MMPEI MMPEI MMPEI MMPSI MMPSI MMPSI MPEI MPEI MPEI MPEI MPEI MPEI MPSI MPSI MPSI MPSI MPSI MPSI Malignant migrating partial epilepsy of infancy Migrating partial epilepsy of infancy Migrating partial seizures of infancy Convulsiones parciales migratorias malignas de la infancia Convulsões parciais migratórias malignas da infância Crisi parziali migranti maligne dell'infanzia Epilepsie partielle migrante Malignant migrating partial seizures of infancy Maligne migrierende Partialepilepsie des Säuglingsalters hrdo:pat_id_20842 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável neant C49.9 293190 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 HFM Histiocitoma fibroso maligno Histiocitoma fibroso maligno Histiocytome fibreux malin Histiozytom, fibröses malignes Istiocitoma fibroso maligno MFH MFH MFH MFH MFH MFH Malignant fibrous histiocytoma PUS PUS PUS PUS PUS PUS Pleomorphic undifferentiated sarcoma Sarcoma não-diferenciado pleomórfico Sarcoma pleomorfo indifferenziato Sarcoma pleomórfico indiferenciado Sarcome pléomorphe indifférencié Sarkom, pleomorphes undiffenziertes hrdo:pat_id_20843 neant C49.9 293199 disease Pleomorphic rhabdomyosarcoma Rabdomiosarcoma pleomorfo Rabdomiosarcoma pleomórfico Rabdomiossarcoma pleomórfico Rhabdomyosarcome pléomorphe Rhabdomyosarkom, pleomorphes hrdo:pat_id_20844 Adulte jeune Adultos jóvenes Giovani adulti Jovem adulto Junge Erwachsene Young adult Young adult Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter neant C49.9 293202 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Epithelioid sarcoma Epitheloidsarkom Sarcoma epitelioide Sarcoma epitelioide Sarcoma epitelióide Sarcome épithélioïde hrdo:pat_id_20846 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant I77.4 293208 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Celiac trunk compression syndrome Coeliaca-Kompressions-Syndrom Sindrome da compressione del tronco celiaco Syndrome de compression du tronc coeliaque Síndrome de compresión del tronco celiaco Síndrome de compressão do tronco celíaco hrdo:pat_id_20847 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant E70.1 293284 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown BH4-responsive HPA/PKU BH4-responsive HPA/PKU BH4-responsive hyperphenylalaninemia/phenylketonuria HPA/PCU BH4 sensible HPA/PKU BH4-sensible HPA/PKU sensibile a BH4 HPA/PKU sensibile alla tetraidrobiopterina HPA/PKU sensible a BH4 HPA/PKU sensible a la tetrahidrobiopterina HPA/PKU sensível à BH4 HPA/PKU sensível à tetrahidrobiopterina Hiperfenilalaninemia/fenilcetonuria sensible a BH4 Hiperfenilalaninemia/fenilcetonúria sensível à BH4 Hyperphénylalaninémie/phénylcétonurie BH4-sensible Hyperphénylalaninémie/phénylcétonurie sensible au BH4 Iperfenilalaninemia/fenilchetonuria sensibile a BH4 Tetrahydrobiopterin-responsive HPA/PKU Tetrahydrobiopterin-responsive HPA/PKU Hiperfenilalaninemia/fenilcetonuria sensible a la tetrahidrobiopterina Hiperfenilalaninemia/fenilcetonúria sensível à tetrahidrobiopterina Hyperphenylalaninämie/Phenylketonurie, Tetrahydrobiopterin-responsive Hyperphénylalaninémie/phénylcétonurie sensible à la tétrahydrobioptérine Iperfenilalaninemia/fenilchetonuria sensibile alla tetraidrobiopterina Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria hrdo:pat_id_2085 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 148350 221700 C536152 neant Q82.8 2202 C1835672 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Herencia mitocondrial Hérédité mitochondriale Mitochondrial inheritance Mitochondrial inheritance Mitochondriale Vererbung Modo de hereditariedade mitocondrial Trasmissione mitocondriale disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 PPK-deafness syndrome Palmoplantar hyperkeratosis-deafness syndrome Palmoplantar hyperkeratosis-hearing loss syndrome Palmoplantar keratoderma-hearing loss syndrome Sindrome PPK-sordità Sindrome cheratoderma-perdita di udito Sindrome ipercheratosi palmoplantare-perdita di udito Sindrome ipercheratosi palmoplantare-sordità Syndrome KPP-surdité Syndrome hyperkératose palmoplantaire-surdité Síndrome PPK-sordera Síndrome de hiperqueratosis palmoplantar - pérdida de audición Síndrome de hiperqueratosis palmoplantar - sordera Síndrome de queratodermia palmoplantar - pérdida de audición Palmoplantar keratoderma-deafness syndrome Palmoplantarkeratose - Schwerhörigkeit Queratodermia palmo-plantar - surdez Sindrome cheratoderma palmoplantare-sordità Syndrome de kératodermie palmoplantaire-surdité Síndrome de queratodermia palmoplantar - sordera hrdo:pat_id_20854 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Variabel Variabile Variable Variable Variable Variable Variável neant E71.1 293355 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Acidemia metilmalonica senza omocistinuria Acidemia metilmalónica sem homocistinúria Acidemia metilmalónica sin homocistinuria Aciduria metilmalonica Aciduria metilmalonica senza omocistinuria Aciduria metilmalónica Aciduria metilmalónica sin homocistinuria Acidurie méthylmalonique sans homocystinurie Acidúria metilmalónica Acidúria metilmalónica sem homocistinúria Methylmalonazidurie ohne Homocystinurie Methylmalonazidämie Methylmalonazidämie ohne Homocystinurie Methylmalonic aciduria without homocystinuria Acidemia metilmalonica Acidemia metilmalónica Acidemia metilmalónica Acidémie méthylmalonique sans homocystinurie Methylmalonazidurie Methylmalonic acidemia without homocystinuria hrdo:pat_id_20855 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter neant H18.5 293375 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 GWCD GWCD GWCD GWCD GWCD GWCD Distrofia corneal de Grayson-Wilbrandt Distrofia corneale di Grayson-Wilbrandt Distrofia corneana de Grayson-Wilbrandt Dystrophie cornéenne de Grayson-Wilbrandt Grayson-Wilbrandt corneal dystrophy Hornhautdystrophie Grayson-Wilbrandt hrdo:pat_id_20856 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 122400 neant H18.5 293381 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 DEER Distrofia Helsinglandica Distrofia Helsinglandica Distrofia Helsinglandica Distrofia Smolandiensis Distrofia Smolandiensis Distrofia Smolandiensis Dystrophia Helsinglandica Dystrophia Helsinglandica Dystrophia Helsinglandica Dystrophia Smolandiensis Dystrophia Smolandiensis Dystrophia Smolandiensis ERED ERED ERED ERED ERED ERED Erosiones corneales hereditarias recurrentes Erosioni corneali ereditarie ricorrenti Erosions épithéliales récurrentes héréditaires Erosão corneana hereditária recorrente Hornhauterosion, hereditäre rekurrente Recurrent hereditary corneal erosions Distrofia da erosione epiteliale ricorrente Distrofia de erosão epitelial recorrente Distrofia por erosiones epiteliales recurrentes Dystrophie par érosions épithéliales récurrentes Epithelial recurrent erosion dystrophy Epitheliale rezidivierende Erosionsdystrophie hrdo:pat_id_20857 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant H18.5 293462 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 PDCD PDCD PDCD PDCD PDCD PDCD Distrofia corneal predescemética Distrofia corneale pre-Descemet Distrofia corneana pré-Descemet Dystrophie cornéenne pré-descemétique Pre-Descemet corneal dystrophy Predescemet-Dystrophie hrdo:pat_id_20862 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 217700 neant H18.5 293603 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Autosomal recessive CHED Autosomal recessive congenital hereditary endothelial dystrophy CHED autosomica recessiva CHED autosomique récessive CHED autossómica recessiva CHED autosómica recesiva CHED, CHED2 CHED2 CHED2 CHED2 CHED2 CHED2 CHEDII CHEDII CHEDII CHEDII CHEDII CHEDII Congenital hereditary endothelial dystrophy 2 Distrofia corneal de Maumenee Distrofia corneale di Maumenee Distrofia corneana de Maumenee Distrofia endotelial hereditaria congénita 2 Distrofia endotelial hereditaria congénita autosómica recesiva Distrofia endotelial hereditaria infantil Distrofia endotelial hereditária congénita 2 Distrofia endotelial hereditária congénita, autossómica recessiva Distrofia endotelial hereditária infantil Distrofia endoteliale ereditaria congenita 2 Distrofia endoteliale ereditaria congenita autosomica recessiva Distrofia endoteliale ereditaria infantile Dystrophie cornéenne de Maumenee Dystrophie endothéliale congénitale autosomique récessive Dystrophie endothéliale congénitale héréditaire 2 Dystrophie endothéliale héréditaire infantile Endotheldystrophie, autosomal-rezessive kongenitale Endotheldystrophie, hereditäre infantile Endotheldystrophie, hereditäre kongenitale, 2 Hornhautdystrophie, endotheliale, Typ Maumenee Infantile hereditary endothelial dystrophy Maumenee corneal dystrophy Congenital hereditary endothelial dystrophy II Distrofia endotelial hereditaria congénita II Distrofia endotelial hereditária congénita II Distrofia endoteliale ereditaria congenita II Dystrophie endothéliale congénitale héréditaire II Endotheldystrophie, hereditäre kongenitale, Typ II hrdo:pat_id_20863 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300779 neant H18.5 293621 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 XECD XECD XECD XECD XECD XECD Distrofia corneal endotelial ligada al X Distrofia corneale endoteliale legata all'X Distrofia corneana endotelial ligada ao X Dystrophie cornéenne endothéliale liée à l'X Hornhautdystrophie, endotheliale, X-chromosomale X-linked endothelial corneal dystrophy hrdo:pat_id_20864 614438 neant Q87.8 293633 etiological subtype Déficit en PYCR1 Déficit en Pyrroline-5-carboxylate reductase 1 PYCR1 deficiency Pyrroline-5-carboxylate reductase 1 deficiency PYCR1-related DeBarsy syndrome PYCR1-related DeBarsy syndrome PYCR1-related DeBarsy syndrome PYCR1-related DeBarsy syndrome PYCR1-related DeBarsy syndrome Syndrome de DeBarsy associé à PYCR1 hrdo:pat_id_20866 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 293642 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Herencia mitocondrial Hérédité mitochondriale Ligado ao X recessivo Mitochondrial inheritance Mitochondrial inheritance Mitochondriale Vererbung Modo de hereditariedade mitocondrial Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X Trasmissione mitocondriale X-chromosomal-rezessiv X-linked recessive X-linked recessive group of phenomes <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 BMRS BMRS BMRS BMRS BMRS BMRS Blepharophimose- Intelligenzminderung Blepharophimosis-intellectual deficit syndrome Sindrome blefarofimosi-deficit cognitivo Syndrome de blépharophimosis-déficit intellectuel Síndrome blefarofimose - défice intelectual Síndrome de blefarofimosis - déficit intelectual hrdo:pat_id_20867 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 293707 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 BMRS tipo MKB BMRS tipo Maat-Kievit-Brunner BMRS type MKB BMRS type Maat-Kievit-Brunner BMRS vom Typ Maat-Kievit-Brunner BMRS, MKB type BMRS, MKB-Typ BMRS, Maat-Kievit-Brunner type BMRS, tipo MKB BMRS, tipo MKB BMRS, tipo Maat-Kievit-Brunner BMRS, tipo Maat-Kievit-Brunner Blepharophimosis-intellectual deficit syndrome, Maat-Kievit-Brunner type Sindrome blefarofimosi-deficit cognitivo, tipo Maat-Kievit-Brunner Syndrome de blépharophimosis-déficit intéllectuel type Maat-Kievit-Brunner Síndrome blefarofimose - défice intelectual, tipo Maat-Kievit-Brunner Síndrome de blefarofimosis - déficit intelectual tipo Maat-Kievit-Brunner Blepharophimose- Intelligenzminderung-Syndrom, Typ Maat-Kievit-Brunner Blepharophimosis-intellectual deficit syndrome, MKB type Sindrome blefarofimosi-deficit cognitivo, tipo MKB Syndrome de blépharophimosis-déficit intéllectuel type MKB Síndrome blefarofimose - défice intelectual, tipo MKB Síndrome de blefarofimosis - déficit intelectual tipo MKB hrdo:pat_id_20869 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 293725 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 BMRS Typ V BMRS Typ Verloes BMRS tipo V BMRS tipo V BMRS tipo Verloes BMRS type V BMRS type V BMRS type Verloes BMRS, Verloes type BMRS, tipo V BMRS, tipo Verloes BMRS, tipo Verloes Blepharophimose- Intelligenzminderung-Syndrom Typ V Blepharophimosis-intellectual deficit syndrome type V Sindrome blefarofimosi-deficit cognitivo, tipo V Síndrome blefarofimose - défice intelectual, tipo V Síndrome de blefarofimosis - déficit intelectual tipo V Blepharophimose- Intelligenzminderung-Syndrom, Typ Verloes Blepharophimosis-intellectual deficit syndrome, Verloes type Sindrome blefarofimosi-deficit cognitivo, tipo Verloes Syndrome de blépharophimosis-déficit intéllectuel type Verloes Síndrome blefarofimose - défice intelectual, tipo Verloes Síndrome de blefarofimosis - déficit intelectual tipo Verloes hrdo:pat_id_2087 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 106400 2206 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Enfermedad de Forestier Forestier-Syndrom Ankylosing vertebral hyperostosis with tylosis Hiperostose vertebral anquilosante com tilose Hiperostosis vertebral anquilosante con tilosis Hyperostose vertébrale ankylosante avec tylose Hyperostose, ankylosierende vertebrale mit Tylose Iperostosi vertebrale anchilosante con tilosi hrdo:pat_id_20871 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 293807 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch particular clinical situation in a disease or syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dilatación biliar inducida por ketamina Dilatation des voies biliaires induites par la kétamine Dilatazione biliare indotta dalla ketamina Dilatação biliar induzida por quetamina Gallengangdilatation, Ketamine-induzierte Ketamine-induced biliary dilatation hrdo:pat_id_20872 Variabel Variabile Variable Variable Variable Variable Variável 293812 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Eritema pigmentado fijo Eritema pigmentado fixo Eritema pigmentato fisso Erythem, fixes pigmentiertes Erythème pigmenté fixe Fixed pigmented erythema hrdo:pat_id_20873 Variabel Variabile Variable Variable Variable Variable Variável 293815 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes Dermatose toxique Dermatose tóxica Dermatose, toxische Dermatosi tossica Dermatosis tóxica Toxic dermatosis hrdo:pat_id_20874 614456 neant 293822 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 MITF-assoziiertes Melanom und Nierenzellkarzinom-Prädispositionssyndrom MITF-related melanoma and renal cell carcinoma predisposition syndrome Sindrome da predisposizione al carcinoma delle cellule renali e melanoma associato a MITF Syndrome de prédisposition au carcinome rénal et mélanome associé à MITF Síndrome de predisposición a carcinoma de células renales y melanoma asociado a MITF Síndrome de predisposição para carcinoma de células renais e melanoma relacionado com MITF hrdo:pat_id_20875 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613673 neant D64.4 293825 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CDA da mutazione di KLF1 CDA due to KLF1 mutation CDA due à des mutations KLF1 CDA durch KLF1-Genmutationen CDA por mutaciones en KLF1 CDA por mutação em KLF1 Anemia diseritropoietica congenita da mutazioni di KLF1 Anemia diseritropoiética congénita por mutação em KLF1 Anemia diseritropoyética congénita por mutaciones en KLF1 Anämie, dyserythropoetische kongenitale, durch KLF1-Genmutationen Anémie dysérythropoïétique congénitale due à des mutations KLF1 Congenital dyserythropoietic anemia due to KLF1 mutation hrdo:pat_id_20876 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant D64.4 293830 group of phenomes Anemia diseritropoietica costituzionale Anemia diseritropoiética constitucional Anemia diseritropoyética constitucional Anémie dysérythropoïétique constitutionnelle Constitutional dyserythropoietic anemia Dyserythropoetische Anämie, konstitutionelle hrdo:pat_id_20878 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 293838 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficiencia de ácido lipoico sintasa Deficit di acido lipoico sintasi Deficiência de ácido lipóico sintase Déficit de ácido lipoico sintasa Défict en lipoic acid synthase Lipoic acid synthase deficiency Liponsäure-Synthase-Mangel Fatal infantile encephalopathy-pulmonary hypertension syndrome Fatal infantile encephalopathy-pulmonary hypertension syndrome Fatale infantile Enzephalopathie-pulmomale Hypertension-Syndrom Sindrome ipertensione polmonare-encefalopatia infantile fatale Síndrome de hipertensión pulmonar - encefalopatía letal infantil Síndrome encefalopatia infantil fatal - hipertensão pulmonar hrdo:pat_id_20879 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 248340 257920 265050 neant Q87.8 293843 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 3MC syndrome 3MC-Syndrom Sindrome 3MC Syndrome 3MC Síndrome 3MC Síndrome 3MC Craniofacial-ulnar-renal syndrome Kraniofazial-ulnar-renales Syndrom Sindrome craniofacciale-ulnare-renale Syndrome craniofacio-cubito-rénal Síndrome craneofacial-cubital-renal Síndrome craniofacial-cubital-renal hrdo:pat_id_20880 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant G31.0 293848 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Demencia frontotemporal, variante de atrofia temporal derecha Demenza frontotemporale, variante dell'atrofia temporale destra Demência frontotemporal, variante atrofia temporal direita Démence frontotemporale, variant atrophie temporale droite Frontotemporal dementia, right temporal atrophy variant Frontotemporale Demenz, rechtstemporale Variante RTLA RTLA RTLA RTLA RTLA RTLA rvFTD rvFTD rvFTD rvFTD rvFTD rvFTD Atrofia del lobo temporale destro Atrofia del lóbulo temporal derecho Atrofia lobar temporal direita Atrophie du lobe temporal droit Frontallappen-Atrophie, rechts Right temporal lobar atrophy hrdo:pat_id_20883 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601346 neant Q45.8 293864 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome Hypoplastischer Pankreas-Intestinalatresie-Hypoplastische Gallenblase-Syndrom Sindrome ipoplasia del pancreas-atresia intestinale-ipoplasia della vescicola biliare Syndrome d'hypoplasie du pancréas-atrésie intestinale-hypoplasie de la vésicule biliaire Síndrome de hipoplasia del páncreas - atresia intestinal - hipoplasia de la vesícula biliar Síndrome pâncreas hipoplásico - atresia intestinal - bexiga hipoplásica hrdo:pat_id_20886 neant I42.8 293888 clinical subtype Cardiomiopatia ventricolare aritmogena isolata familiare con predominanza a sinistra Cardiomyopathie ventriculaire arythmogène familiale isolée avec prédominance à gauche Familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form Kardiomyopathie, arrhythmogene isolierte linksventrikuläre, familiäre Form Miocardiopatia ventricular arritmogénica isolada familiar, com predominância à esquerda Miocardiopatía ventricular arritmogénica familiar aislada de predominio izquierdo Displasia ventricolare aritmogena isolata familiare con predominanza a sinistra Displasia ventricular arritmogénica familiar aislada de predominio izquierdo Displasia ventricular arritmogénica isolada familiar com predominância à esquerda Dysplasie ventriculaire arythmogène familiale isolée avec prédominance à gauche Familial isolated arrhythmogenic ventricular dysplasia, left dominant form Familiäre isolierte arrhythmogene ventrikuläre Kardiomyopathie, linksdominate Form hrdo:pat_id_20887 neant I42.8 293899 clinical subtype Cardiomiopatia ventricolare aritmogena isolata familiare, forma biventricolare Cardiomyopathie ventriculaire arythmogène familiale isolée forme biventriculaire Familial isolated arrhythmogenic ventricular cardiomyopathy, biventricular form Kardiomyopathie, arrhythmogene biventrikuläre, familiäre Form Miocardiopatia ventricular arritmogénica isolada familiar, forma biventricular Miocardiopatía ventricular arritmogénica familiar aislada, forma biventricular Displasia ventricolare aritmogena isolata familiare, forma biventricolare Displasia ventricular arritmogénica familiar aislada, forma biventricular Displasia ventricular arritmogénica isolada familiar, forma biventricular Dysplasie ventriculaire arythmogène familiale isolée forme biventriculaire Familial isolated arrhythmogenic ventricular dysplasia, biventricular form Familiäre isolierte arrhythmogene ventrikuläre Kardiomyopathie, biventrikuläre Form hrdo:pat_id_20888 neant I42.8 293910 clinical subtype Cardiomiopatia ventricolare aritmogena isolata familiare con predominanza a destra Cardiomiopatia ventricolare aritmogena isolata familiare, forma classica Cardiomyopathie ventriculaire arythmogène familiale isolée avec prédominance à droite Cardiomyopathie ventriculaire arythmogène familiale isolée forme classique Displasia ventricolare aritmogena isolata familiare, forma classica Displasia ventricular arritmogénica familiar aislada, forma clásica Displasia ventricular arritmogénica isolada familiar, forma clássica Dysplasie ventriculaire arythmogène familiale isolée forme classique Familial isolated arrhythmogenic ventricular cardiomyopathy, classic form Familial isolated arrhythmogenic ventricular cardiomyopathy, right dominant form Familial isolated arrhythmogenic ventricular dysplasia, classic form Familiäre isolierte arrhythmogene rechtsventrikuläre Kardiomyopathie, klassische Form Kardiomyopathie, arrhythmogene isolierte rechtsventrikuläre, familiäre Form Miocardiopatia ventricular arritmogénica isolada familiar, com predominância à direita Miocardiopatia ventricular arritmogénica isolada familiar, forma clássica Miocardiopatía ventricular arritmogénica familiar aislada de predominio derecho Miocardiopatía ventricular arritmogénica familiar aislada, forma clásica Displasia ventricolare aritmogena isolata familiare con predominanza a destra Displasia ventricular arritmogénica familiar aislada de predominio derecho Displasia ventricular arritmogénica isolada familiar, com predominância à direita Dysplasie ventriculaire arythmogène familiale isolée avec prédominance à droite Familial isolated arrhythmogenic ventricular dysplasia, right dominant form Familiäre isolierte arrhythmogene ventrikuläre Kardiomyopathie, rechtsdominate Form hrdo:pat_id_20889 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614416 neant Q87.5 293925 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Letal okzipitale Enzephalozele-Skelettdysplasie-Syndrom Lethal occipital encephalocele-skeletal dysplasia syndrome Sindrome letale encefalocele occipitale-displasia scheletrica Syndrome léthal d'encéphalocèle occipital-dysplasie squelettique Síndrome letal de encefalocele occipital - displasia esquelética Síndrome letal de encefalocelo occipital - displasia esquelética hrdo:pat_id_2089 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 239710 neant Q87.0 2211 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acrofrontofacionasal dysostosis type 2 Acrofrontofacionasal syndrome type 2 Akro-fronto-fazio-nasales Syndrom Typ 2 Disostosi acro-fronto-facio-nasale, tipo 2 Disostosis acrofrontofacionasal tipo 2 Dysostose acro-fronto-facio-nasal type 2 Dysplasie, akro-fonto-fazio-nasale, Typ 2 Naguib, síndrome de Naguib-Richieri-Costa syndrome Naguib-Richieri-Costa-Syndrom Sindrome acro-fronto-facio-nasale, tipo 2 Sindrome di Naguib-Richieri-Costa Syndrome acro-fronto-facio-nasal type 2 Syndrome de Naguib-Richieri-Costa Síndrome acrofrontofacionasal tipo 2 Síndrome de Naguib Síndrome de Naguib-Richieri-Costa Hypertelorism - hypospadias - polysyndactyly syndrome Hypertelorismus-Hypospadie-Polysyndaktylie-Syndrom Hypertélorisme - hypospadias - polysyndactylie Sindrome ipertelorismo-ipospadia-polisindattilia Síndrome de hipertelorismo - hipospadias - polissindactilia Síndrome hipertelorismo - hipospadias - polisindactilia hrdo:pat_id_20891 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis 614303 neant 293936 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Autosomal dominant keratoconus with early-onset anterior polar cataracts Endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome Familial keratoconus with cataract KTCNCT KTCNCT KTCNCT Kératocône autosomique dominant avec cataracte polaire antérieure précoce Kératocône familial avec cataracte Queratocono autosómico dominante con cataratas polares anteriores de aparición temprana Queratocono familiar con cataratas Syndrome de dystrophie endothéliale-hypoplasie de l'iris-cataracte congénitale-amincissement stromal Síndrome de distrofia endotelial - hipoplasia del iris - catarata congénita - adelgazamiento estromal Cheratocono familiare con cataratta EDICT syndrome Keratokonus mit Katarakt, familiäre Form Queratocone familiar com cataratas Syndrome EDICT Síndrome EDICT hrdo:pat_id_20892 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q99.8 293939 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Distal Dup(X)q(28) Distal trisomy Xq28 Dup(X)q(28) distal Dup(X)q(28) distal Dup(X)q(28) distale Dup(X)q(28) distale Dup(X)q(28), distal Trisomia Xq28 distale Trisomie Xq28 Trisomie Xq28 distale Trisomía Xq29 distal Trissomia distal Xq28 Distal Xq28 microduplication syndrome Mikroduplikationssyndrom Xq28, distal Sindrome da microduplicazione Xq28 distale Syndrome de microduplication Xq28 distale Síndrome de microduplicación Xq28 distal Síndrome de microduplicação distal Xq28 hrdo:pat_id_20893 Normal Normal Normal Normal Normal Normal Normale Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis neant Q93.5 293948 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Del(1)p(21.3) Del(1)p(21.3) Del(1)p(21.3) Del(1)p(21.3) Del(1)p(21.3) Del(1)p(21.3) Monosomia 1p21.3 Monosomie 1p21.3 Monosomie 1p21.3 Monosomy 1p21.3 Monosomía 1p21.3 Monossomia 1p21.3 1p21.3 microdeletion syndrome Mikrodeletionssyndrom 1p21.3 Sindrome da microdelezione 1p21.3 Syndrome de microdélétion 1p21.3 Síndrome de microdeleción 1p21.3 Síndrome de microdeleção 1p21.3 hrdo:pat_id_20894 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614458 neant 293955 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency Encefalopatia da infância por deficiência de tiamina pirofosfoquinase Encefalopatia infantile da deficit di tiamina pirofosfochinasi Encefalopatía infantil por déficit de tiamina pirofosfoquinasa Encéphalopathie de l'enfant par déficit en thiamine pyrophosphokinase Enzephalopathie der Kindheit durch Thiamin-Pyrophosphokinase-Mangel hrdo:pat_id_20895 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614187 neant 293958 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 HPPD HPPD HPPD HPPD HPPD HPPD Hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome Sindrome ipertelorismo-seno preauricolare-ostruzione del condotto lacrimale-perdita dell'udito Síndrome de hipertelorismo - seno preauricular - obstrucción del conducto lagrimal - pérdida de audición Síndrome hipertelorismo - seio pré-auricular - obstrução do ducto lacrimal - surdez Hypertelorism-preauricular sinus-punctual pits-deafness syndrome Hypertelorismus-Präaurikulärer Sinus - punktuelle Löcher -Schwerhörigkeit-Syndrom Sindrome ipertelorismo-seno preauricolare-ostruzione del condotto lacrimale-sordità Syndrome d'hypertélorisme-sinus pré-auriculaire-obstruction du canal lacrymal-surdité Síndrome de hipertelorismo - seno preauricular - obstrucción del conducto lagrimal - sordera Síndrome hipertelorismo - seio preauricular - obstrução do ducto lacrimal - surdez hrdo:pat_id_20896 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 240900 neant 293964 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hipoglicemia hipoinsulinémica e hemihipertrofia corporal Hipoglucemia hipoinsulinémica y hemihipertrofia del cuerpo Hypoglycémie hypoinsulinémique avec hémihypertrophie du corps Hypoinsulinemic hypoglycemia and body hemihypertrophy Hypoinsulinämische Hypoglykämie - Hemihypertrophie Ipoglicemia ipoinsulinemica ed emi-ipertrofia del corpo hrdo:pat_id_20897 293967 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome Sindrome ipogonadismo ipogonadotropo-microcefalia grave-sordità neurosensoriale-dismorfismi Síndrome de hipogonadismo hipogonadotrópico - microcefalia grave - sordera neurosensorial - dismorfismo Síndrome hipogonadismo hipogonadotrópico - microcefalia grave - surdez neurossensorial - dismorfias Hypogonadotroper Hypogonadismus - schwere Mikrozephalie - Sensorineurale Schwerhörigkeit - Dysmorphien Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome Sindrome ipogonadismo ipogonadotropo-microcefalia grave-perdita dell'udito neurosensoriale-dismorfismi Syndrome d'hypogonadisme hypogonadotrope-micorcéphalie sévere-surdité neurosensorielle-dysmorphie Síndrome de hipogonadismo hipogonadotrópico - microcefalia grave - pérdida de audición neurosensorial - dismorfismo Síndrome hipogonadismo hipogonadotrópico - microcefalia grave - surdez neurossensorial - dismorfias hrdo:pat_id_20898 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 293978 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 DAVID syndrome DAVID-Syndrom Sindrome DAVID Syndrome DAVID Síndrome DAVID Síndrome DAVID Síndrome de insuficiencia adenohipofisaria - inmunodeficiencia variable Deficiency in anterior pituitary function-variable immunodeficiency syndrome Deficiência da função da pituitária anterior - imunodeficiência variável Sindrome da deficit della funzione anteroipofisaria-immunodeficienza variabile Störung des Hypophysenvorderlappens-variables Immundefekt-Syndrom Syndrome d'insuffisance antéhypophysaire-déficit immunitaire variable Síndrome de insuficiencia de la adenohipófisis - inmunodeficiencia variable hrdo:pat_id_209 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 222600 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Diastrophic+dwarfism%5Bti%5D+OR+Diastrophic+dysplasia%5Bti%5D Q77.5 628 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Diastrophic dysplasia Displasia diastrofica Displasia diastrófica Displasia diastrófica Dysplasie diastrophique Diastrophic dwarfism Enanismo diastrófico Kleinwuchs, diastrophischer Nanisme diastrophique Nanismo diastrofico Nanismo diastrófico hrdo:pat_id_20900 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 293987 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Obesità infantile a esordio rapido - disfunzione ipotalamica - ipoventilazione - disregolazione autonomica - tumori neurali Obésité infantile d'installation rapide-dysfonctionnement hypothalamique-hypoventilation-dysautonomie-tumeurs neurales ROHHAD ROHHAD ROHHAD ROHHAD ROHHAD ROHHAD ROHHADNET ROHHADNET ROHHADNET ROHHADNET ROHHADNET ROHHADNET-Syndrom Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors Síndrome de obesidade infantil de apresentação rápida - disfunção hipotalâmica - hipoventilação - tumores neurais Frühkindliche Adipositas - Hypothalamus Dysfunktion - Hypoventilation -autonome Dysregulation - neurale Tumoren Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome Sindrome con obesità infantile a esordio rapido- disfunzione ipotalamica-ipoventilazione-disregolazione autonomica Syndrome d'obésité infantile d'installation rapide-dysfonctionnement hypothalamique-hypoventilation-dysautonomie Síndrome de obesidad infantil de aparición rápida - disfunción hipotalámica - hipoventilación - desregulación autonómica Síndrome de obesidade infantil de apresentação rápida - disfunção hipotalâmica - hipoventilação - disregulação autonómica hrdo:pat_id_20901 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614261 neant Q87.8 294016 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 MIC-CAP-Syndrom MIC-CM syndrome Microcephaly-cutaneous capillary malformation syndrome Sindrome MIC-CM Sindrome microcefalia-malformazione capillare cutanea Syndrome MIC-CM Syndrome de microcéphalie-malformation capillaire cutanée Síndrome MIC-CM Síndrome MIC-CM Síndrome de microcefalia - malformación capilar cutánea Síndrome microcefalia - malformação capilar cutânea Microcephaly-capillary malformation syndrome Microzephalie mit kapillären Malformationen Sindrome microcefalia-malformazione capillare Syndrome de microcéphalie-malformation capillaire Síndrome de microcefalia - malformación capilar Síndrome microcefalia - malformação capilar hrdo:pat_id_20902 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614328 neant 294023 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Doença inflamatória do intestino e da pele, neonatal Enfermedad inflamatoria neonatal intestinal y cutánea Maladie inflammatoire intestinale et cutanée néonatale Malattia infiammatoria neonatale intestinale e cutanea Neonatal inflammatory skin and bowel disease Neonatale Haut- und Darmerkrankung, entzündliche hrdo:pat_id_20903 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant Q92.3 294026 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dup(2)(q31.1) Dup(2)(q31.1) Dup(2)(q31.1) Dup(2)(q31.1) Dup(2)(q31.1) Dup(2)(q31.1) Trisomia 2q31.1 Trisomie 2q31.1 Trisomie 2q31.1 Trisomy 2q31.1 Trisomía 2q31.1 Trissomia 2q31.1 2q31.1 microduplication syndrome Mikroduplikationssyndrom 2q31.1 Sindrome da microduplicazione 2q31.1 Syndrome de microduplication 2q31.1 Síndrome de microduplicación 2q31.1 Síndrome de microduplicação 2q31.1 hrdo:pat_id_20904 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q74.8 294049 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Larsen-artiges Syndrom (La Reunion Island) Reunion island's Larsen syndrome Sindrome di Larsen dell'Isola di Reunion Syndrome de Larsen de La Réunion Síndrome de Larsen da ilha da Reunião Síndrome de Larsen de la isla de la Reunión hrdo:pat_id_20905 294057 group of phenomes Nävus, seltener Nevo raro Nevo raro Nevus rare Nevus raro Rare nevus Seltener Naevus hrdo:pat_id_20906 neant Q79.8 294060 group of phenomes Multiple pterygium syndrome Multiples Pterygium-Syndrom Sindrome degli pterigi multipli Syndrome des ptérygium multiples Síndrome de pterigium múltiple Síndrome de pterígio múltiplo hrdo:pat_id_20908 208540 neant 294415 malformation syndrome Displasia reno-epato-pancreatica Displasia renohepaticopancreática Displasia renohepaticopancreática Dysplasie réno-hépatico-pancréatique Ivemark II syndrome Ivemark II-Syndrom Renohepaticopancreatic dysplasia Sindrome di Ivemark II Syndrome Ivemark II Síndrome de Ivemark II Síndrome de Ivemark II Displasia renal-hepática-pancreática Displasia renal-hepática-pancreática Displasia renale-epatica-pancreatica Dysplasie réno-hépato-pancréatique Renal-hepatic-pancreatic dysplasia Reno-hepato-pankreatischen Dysplasie hrdo:pat_id_20909 294422 clinical syndrome CIF CIF CIF CIF CIF CIF IHC Chronic intestinal failure Darmversagen, chronisches Insufficienza intestinale cronica Insuffisance hépatique chronique Insuficiencia intestinal crónica Insuficiência intestinal crónica hrdo:pat_id_2091 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 239800 neant Q87.0 2213 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Bixler-Christian-Gorlin syndrome Bixler-Christian-Gorlin, síndrome de Bixler-Christian-Gorlin-Syndrom HMC syndrome HMC, síndrome HMC-Syndrom Sindrome HMC Sindrome di Bixler-Christian-Gorlin Syndrome HMC Syndrome de Bixler-Christian-Gorlin Síndrome HMC Síndrome de Bixler-Christian-Gorlin Hypertelorism-microtia-facial clefting syndrome Hypertelorismus - Mikrotie - Gesichtsspalten Hypertélorisme - microtie - fente faciale Ipertelorismo - microtia - schisi facciale Síndrome hipertelorismo - microtia - hendidura facial Síndrome hipertelorismo - micrótia - fenda facial hrdo:pat_id_20913 neant Q73.0 294925 group of phenomes Amelia Amelia Amelia Amelia Amelie Amélie hrdo:pat_id_20914 294927 group of phenomes Intercalary meromelia Meromelia intercalar Meromelia intercalar Meromelia intercalare Meromelie, interkalare Méromélie intercalaire Anomalie réductionnelle intercalaire des membres Defectos intercalares de las extremidades Defeitos intercalares dos membros Difetti intercalari degli arti Extremitätendefekt, interkalarer Intercalary limb defects hrdo:pat_id_20915 294929 group of phenomes Meromelia terminal Meromelia terminal Meromelia terminale Meromelie, terminale Méromélie terminale Terminal meromelia Anomalie réductionnelle terminale Defectos terminales de las extremidades Defeitos terminais dos membros Difetti terminali degli arti Extremitätendefekt, terminaler Terminal limb defects hrdo:pat_id_20916 neant Q71.3 294931 group of phenomes Absence de doigts Assenza delle dita delle mani Ausencia de dedos de la mano Ausência de dedos da mão Fehlende Finger Fingers absent Adactilia da mão Adactilia de manos Adactylie de la main Adactyly of hand Adaktylie der Hand Adattilia delle mani hrdo:pat_id_20918 294935 group of phenomes Mains et/ou pieds fendus Malformación de mano hendida y/o pie hendido Malformazione da schisi delle mani e/o dei piedi Malformação fenda da mão e/ou pé Spalthand und/oder Spaltfuß-Fehlbildungen Split hand or/and split foot malformation hrdo:pat_id_20919 294937 group of phenomes Brachidattilia Brachydactylie Brachydactyly Brachydaktylie Braquidactilia Braquidactilia hrdo:pat_id_2092 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 217150 2215 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Froster-Iskenius-Waterson syndrome Froster-Iskenius-Waterson, síndrome de Froster-Iskenius-Waterson-Syndrom Sindrome di Froster-Iskenius -Waterson Syndrome de Froster-Iskenius-Waterson Síndrome de Froster-Iskenius-Waterson Síndrome de Froster-Iskenius-Waterson Hipertermia maligna - artrogripose - torcicolo Hipertermia maligna - artrogriposis - tortícolis Hyperthermie maligne - arthrogrypose - torticolis Ipertermia maligna - artrogriposi - torcicollo Malignant hyperthermia - arthrogryposis - torticollis Maligne Hyperthermie - Arthrogrypose - Torticollis hrdo:pat_id_20920 neant Q69.1 294939 group of phenomes Polidactilia preaxial de la mano Polidactilia pré-axial da mão Polidattilia preassiale delle mani Polydactylie préaxiale de la main Preaxial polydactyly of hand Präaxiale Polydaktylie der Hand Polidactilia preaxial de los dedos de la mano Polidactilia pré-axial dos dedos da mão Polidattilia preassiale delle dita delle mani Polydactylie préaxiale des doigts Preaxial polydactyly of fingers Präaxiale Polydaktylie der Finger hrdo:pat_id_20921 neant Q69.0 294942 group of phenomes Polidactilia postaxial de la mano Polidactilia pós-axial da mão Polidattilia postassiale delle mani Polydactylie postaxiale de la main Postaxial polydactyly of hand Postaxiale Polydaktylie der Hand Polidactilia postaxial de los dedos de la mano Polidactilia pós-axial dos dedos da mão Polidattilia postassiale delle dita della mani Polydactylie postaxiale des doigts Postaxial polydactyly of fingers Postaxiale Polydaktylie der Finger hrdo:pat_id_20922 294944 group of phenomes Congenital deformities of limbs Deformidades congénitas dos membros Deformità congenite degli arti Déformations congénitales des membres Fehlbildungen der Extremitäten, kongenitale Malformaciones congénitas de las extremidades hrdo:pat_id_20923 neant Q68.1 294947 group of phenomes Congenital deformities of fingers Deformidades congénitas dos dedos da mão Deformità congenite delle dita delle mani Déformations congénitales des doigts Fehlbildungen der Finger, kongenitale Malformaciones congénitas de los dedos de la mano hrdo:pat_id_20924 294949 group of phenomes Anomalie de formation des articulations Defectos en la formación de articulaciones Defeitos da formação das articulações Difetti nella formazione delle articolazioni Gelenkfehlbildung Joint formation defects hrdo:pat_id_20925 294951 group of phenomes Congenital joint dislocations Dislocazioni articolari congenite Gelenkdislokation, kongenitale Luxaciones articulares congénitas Luxation articulaire congénitale Luxações articulares congénitas hrdo:pat_id_20926 294953 group of phenomes Croissance excessive des membres Extremitätenhypertrophie Iperaccrescimento degli arti Limb overgrowth Sobrecrecimiento de las extremidades Sobrecrescimento dos membros hrdo:pat_id_20927 294955 group of phenomes Sindromi con difetti di riduzione degli arti Syndrome avec anomalies réductionnelles des membres Syndrome mit Reduktionsdefekten der Extremitäten Syndromes with limb reduction defects Síndromes com defeitos de redução dos membros Síndromes con defectos de reducción de extremidades hrdo:pat_id_20928 294957 group of phenomes Anomalies réductionnelles combinées des membres supérieurs et inférieurs Combined reduction defects of upper and lower limbs Defectos por reducción combinada de extremidades superiores e inferiores Defeitos de redução combinada dos membros superiores e inferiores Difetti di riduzione combinata degli arti superiori e inferiori Kombinierte Reduktionsdefekte der oberen und unteren Extremitäten hrdo:pat_id_20929 294959 group of phenomes Sindromi con duplicazione degli arti, polidattilia, sindattilia e/o trifalangismo Syndrome mit with Extremitäten-Verdoppelung, Polydaktylie, Syndaktylie und/oder Triphalangismus Syndromes avec duplication des membres, polydactylie, syndactylie et/ou triphalangisme Syndromes with limb duplication, polydactyly, syndactyly and/or triphalangism Síndromes com duplicação dos membros, polidactilia, sindactilia e/ou trifalangismo Síndromes con duplicación de extremidades, polidactilia, sindactilia y/o trifalangismo hrdo:pat_id_2093 neant Q86.8 2216 disease Embriofetopatia por hipertermia Hyperthermie-Sequenz Anomalias fetais por hipertermia Defectos de nacimiento inducidos por hipertermia materna Hyperthermie tératogène Hyperthermie, teratogene Ipertermia materna indotta da difetti alla nascita Maternal hyperthermia induced birth defects hrdo:pat_id_20930 294961 group of phenomes Syndromes avec fusion des membres Sindromi con sinostosi degli arti Syndrome mit Synostosee der Extremitäten Syndromes avec synostose des membres Syndromes with synostoses of limbs Síndromes com sinostoses dos membros Síndromes con sinostosis de extremidades hrdo:pat_id_20931 294963 group of phenomes Popliteal pterygium syndrome Popliteal pterygium syndrome Popliteales Pterygium-Syndrom Sindrome degli pterigi popliteali Síndrome de pterigium poplíteo Síndrome pterígeo poplíteo hrdo:pat_id_20932 neant Q68.8 294965 group of phenomes LCCS LCCS LCCS Lethal congenital contracture syndrome Sindrome letale da contratture congenite Syndrom der letalen Kontrakturen, letale Form Syndrome des contractures congénitales létales Síndrome de contractura congénita letal Síndrome de contratura congénita letal hrdo:pat_id_20933 neant Q71.0 294967 morphological anomaly Amelia de las extremidades superiores Amelia degli arti superiori Amelia do membro superior Amelia of upper limb Amelie der oberen Extremitäten Amélie des membres supérieurs hrdo:pat_id_20934 neant Q72.0 294969 morphological anomaly Amelia de las extremidades inferiores Amelia degli arti inferiori Amelia do membro inferior Amelia of lower limb Amelie der unteren Extremitäten Amélie des membres inférieurs hrdo:pat_id_20935 neant Q73.0 294971 morphological anomaly Amelia total Amelia total Amelia totale Amelie, totale Amélie complète Total amelia Tetra-amelia Tetra-amelia Tetra-amelia Tetraamelia Tetraamelie Tétraamélie hrdo:pat_id_20936 neant Q71.8 294973 morphological anomaly Agénésie/hypoplasie humérale Humeral intercalary meromelia Humerale interkalare Meromelie Meromelia intercalar do úmero Meromelia intercalar humeral Meromelia intercalare omerale Méromélie intercalaire humérale Agenesia/hipoplasia do úmero Agenesia/hipoplasia humeral Agenesia/ipoplasia dell'omero Agénésie/hypoplasie de l'humérus Humeral agenesis/hypoplasia Humerusagenesie/-hypoplasie hrdo:pat_id_20937 neant Q71.1 294975 morphological anomaly Focomelia Focomelia Focomelia Humeroradioulnar intercalary transverse meromelia Humeroradioulnare interkalartransverse Meromelie Meromelia intercalar transversa húmero-radio-cubital Meromelia intercalar transversa úmero-radio-ulnar Meromelia trasversale intercalare omero-radio-ulnare Méromélie intercalaire transverse huméro-radio-cubitale Méromélie intercalaire transverse huméro-radio-ulnaire Phocomelia Phocomélie Phokomelie Absence congénitale du bras et de l'avant-bras avec main conservée Angeborenes Fehlen der Ober- und Unterarms mit vorhandener Hand Assenza congenita del braccio e dell'avambraccio con presenza della mano Ausencia congénita de la parte superior del brazo y el antebrazo con presencia de la mano Ausência congénita do braço e antebraço, com mão presente Congenital absence of upper arm and forearm with hand present hrdo:pat_id_20938 neant Q72.1 294977 morphological anomaly Femorotibiofibular intercalary transverse meromelia Femorotibiofibulare interkalartransverse Meromelie Meromelia intercalar transversa de fémur-tibia-perone Meromelia intercalar transversa femoro-tibio-peronial Meromelia trasversale intercalare femoro-tibio-fibulare Méromélie intercalaire transverse fémoro-tibio-fibulaire Méromélie intercalaire transverse fémoro-tibio-péronier Absence congénitale de la cuisse et de la jambe avec pied conservé Angeborenes Fehlen der Ober- und Unterschenkel mit vorhandenem Fuß Assenza congenita della coscia e della gamba con presenza del piede Ausencia congénita del muslo y la parte baja de la pierna con presencia del pie Ausência congénita da coxa e perna, com pé presente Congenital absence of thigh and lower leg with foot present hrdo:pat_id_20939 neant Q71.2 294979 morphological anomaly Meromelia terminal transversa radio-cubital Meromelia transversa terminal de radio-cubital Meromelia trasversale terminale radioulnare Méromélie terminale transverse radio-cubitale Méromélie terminale transverse radio-unlaire Radioulnar terminal transverse meromelia Radioulnare terminaltransverse Meromelie Absence congénitale de l'avant-bras et de la main Angeborenes beidseitiges Fehlen der Unterarme und Hände Assenza congenita combinata dell'avambraccio e della mano Ausencia congénita de antebrazo y mano Ausência congénita de antebraço e mão Congenital absence of both forearm and hand hrdo:pat_id_20940 neant Q72.2 294981 morphological anomaly Meromelia terminal transversa tibio-peronial Meromelia transversa terminal de tibia-peroné Meromelia trasversale terminale tibiofibulare Méromélie terminale transverse tibio-fibulaire Méromélie terminale transverse tibio-péronier Tibiofibular terminal transverse meromelia Tibiofibulare terminaltransverse Meromelie Absence congénitale de la jambe et du pied Angeborenes beidseitiges Fehlen der Unterschenkel und Füße Assenza congenita combinata della gamba e del piede Ausencia congénita de la parte baja de la pierna y el pie Ausência congénita da região inferior da perna e pé Congenital absence of both lower leg and foot hrdo:pat_id_20941 neant Q71.3 294983 morphological anomaly Absent hand Achirie Assenza delle mani Ausencia de manos Ausência da mão Hand, fehlende Main absente Acheiria Acheiria Acheirie Acheirie Aqueiria Aquiria hrdo:pat_id_20942 neant Q72.3 294986 morphological anomaly Absent foot Assenza dei piedi Ausencia de pies Ausência do pé Fuß, fehlender Pied absent Apodia Apodia Apodia Apodia Apodie Apodie hrdo:pat_id_20943 neant Q71.3 294988 morphological anomaly Hipodactilia del pulgar Hipodactilia do polegar Hypodactylie du pouce Hypodaktylie mit Fehlen des Daumens Ipodattilia del pollice Oligodactilia del pulgar Oligodactilia do polegar Oligodactylie du pouce Oligodaktylie mit Fehlen des Daumens Oligodattilia del pollice Thumb hypodactyly Thumb oligodactyly Absence/hypoplasie congénitale du pouce Aplasie/-Hypoplasia des Daumens, kongenital Assenza/ipoplasia congenita del pollice Ausencia/hipoplasia congénita del pulgar Ausência/hipoplasia congénita do polegar Congenital absence/hypoplasia of thumb hrdo:pat_id_20944 neant Q71.3 294990 morphological anomaly Digitale 2-5 Hypodaktylie Digitale 2-5 Oligodaktylie Digits 2-5 hypodactyly Digits 2-5 oligodactyly Hipodactilia de los dedos 2-5 Hipodactilia dos dedos 2-5 Hypodactylie des doigts 2-5 Ipodattilia delle dita 2-5 Oligodactilia de los dedos 2-5 Oligodactilia dos dedos 2-5 Oligodactylie des doigts 2-5 Oligodattilia delle dita 2-5 Absence/hypoplasie congénitale des doigts à l'exception du pouce Aplasie/-Hypoplasi der Finger exkl. Daumen, kongenital Assenza/ipoplasia congenita delle dita delle mani, escluso il pollice Ausencia/hipoplasia congénita de los dedos excluyendo el pulgar Ausência/hipoplasia congénita dos dedos da mão, excluindo o polegar Congenital absence/hypoplasia of fingers excluding thumb hrdo:pat_id_20945 neant Q71.6 294992 morphological anomaly Main fendue Mano hendida Mão fendida Schisi della mano Spalthand Split hand hrdo:pat_id_20946 neant Q72.7 294994 morphological anomaly Pie hendido Pied fendu Pé fendido Schisi del piede Spaltfuß Split foot hrdo:pat_id_20947 neant Q71.8 294996 morphological anomaly Dedos da mão curtos Dedos de las manos cortos Dita delle mani corte Doigts courts Kurze Finger Short fingers Brachidattilia delle dita delle mani Brachydactylie des doigts Brachydactyly of fingers Brachydakytlie der Finger Braquidactilia de los dedos de la mano Braquidactilia dos dedos da mão hrdo:pat_id_20948 neant Q72.8 294998 morphological anomaly Dedos de los pies cortos Dedos do pé curtos Dita dei piedi corte Kurze Zehen Orteils courts Short toes Brachidattilia dellle dita dei piedi Brachydactylies des orteils Brachydactyly of toes Brachydakytlie der Zehen Braquidactilia de los dedos del pie Braquidactilia dos dedos do pé hrdo:pat_id_20949 217100 neant Q79.8 295000 malformation syndrome Constriction rings syndrome Schnürring-Syndrom Sindrome da anelli di costrizione Syndrome d'anneaux de constriction Síndrome de anillos de constricción Síndrome de anéis de constrição hrdo:pat_id_2095 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 239840 2218 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cervical hypertrichosis - peripheral neuropathy Hipertricose cervical - neuropatia Hipertricosis cervical neuropatía Hypertrichose cervicale - neuropathie périphérique Hypertrichose der Hals-Vorderseite - periphere Neuropathie Ipertricosi cervicale - neuropatia periferica hrdo:pat_id_20950 neant Q74.0 295002 morphological anomaly Falange soprannumeraria Falange supernumeraria Falange supernumerária Falanges supernumerarias Falanges supernumerárias Falangi soprannumerarie Phallange surnuméraire Supernumerary phallanges Supernumerary phallanx Überzählige Phalangen Hiperfalangia Hiperfalangia Hyperphalangie Hyperphalangie Hyperphalangy Iperfalangia hrdo:pat_id_20951 neant Q69.0 295004 morphological anomaly Central polydactyly of hand Main en mirroir Mano a specchio Mano en espejo Mesoaxial polydactyly of fingers Mesoaxiale Polydaktylie der Finger Mirror hand Mão em espelho Polidactilia central da mão Polidactilia central de la mano Polidactilia mesoaxial de los dedos de la mano Polidactilia mesoaxial dos dedos da mão Polidattilia centrale della mano Polidattilia mesoassiale delle dita delle mani Polydactylie centrale de la main Polydactylie mésoaxiale des doigts Spiegelhand Zentrale Polydaktylie der Hand Central polydactyly of fingers Polidactilia central de los dedos de la mano Polidactilia central dos dedos da mão Polidattilia centrale delle dita delle mani Polydactylie centrale des doigts Zentrale Polydaktylie der Finger hrdo:pat_id_20952 601759 neant Q69.2 295006 morphological anomaly Alluce bifido Alluci bifidi Bifid great toes Bifid halluces Bifid hallux Dedo gordo del pie bífido Dedos grandes dos pés bífidos Gros orteil bifide Großzehe, zweigeteilte Halluces bífidos Hallux bífido Halux bífido Polidactilia preaxial del pie Polidactilia pré-axial do pé Polidattilia preassiale dei piedi Polydactylie préaxiale du pied Preaxial polydactyly of foot Präaxiale Polydaktylie des Fußes Polidactilia preaxial de los dedos del pie Polidactilia pré-axial dos dedos do pé Polidattilia preassiale delle dita dei piedi Polydactylie préaxiale des orteils Preaxial polydactyly of toes Präaxiale Polydaktylie der Zehen hrdo:pat_id_20953 neant Q69.2 295008 morphological anomaly Polidactilia postaxial del pie Polidactilia pós-axial do pé Polidattilia postassiale dei piedi Polydactylie postaxiale du pied Postaxial polydactyly of foot Postaxiale Polydaktylie des Fußes Polidactilia postaxial de los dedos del pie Polidactilia pós-axial dos dedos do pé Polidattilia postassiale delle dita dei piedi Polydactylie postaxiale des orteils Postaxial polydactyly of toes Postaxiale Polydaktylie der Zehen hrdo:pat_id_20954 neant Q69.2 295010 morphological anomaly Central polydactyly of foot Mesoaxial polydactyly of toes Mesoaxiale Polydaktylie der Zehen Mirror foot Pie en espejo Pied en mirroir Piede a specchio Polidactilia central del pie Polidactilia central do pé Polidactilia mesoaxial de los dedos del pie Polidactilia mesoaxial dos dedos do pé Polidattilia centrale dei piedi Polidattilia mesoassiale delle dita dei piedi Polydactylie centrale du pied Polydactylie mésoaxiale des orteils Pé em espelho Spiegelfuß Zentrale Polydaktylie des Fußes Central polydactyly of toes Polidactilia central de los dedos del pie Polidactilia central dos dedos do pé Polidattilia centrale delle dita dei piedi Polydactylie centrale des orteils Zentrale Polydaktylie der Zehen hrdo:pat_id_20955 neant Q70 295012 morphological anomaly Main en mitaine Mano a guantone Mano en manopla Mano en mitón Mitten hand Mão em luva sem dedos ('mitten') Sindactilia tipo luvas sem dedos ('mitten') Sindactilia unilateral de los dedos 2-5 Sindactilia unilateral dos dedos 2-5 Sindactilia, tipo manopla Sindactilia, tipo mitón Sindattilia unilaterale delle dita 2-5 Sindattilia, tipo a guantone Syndactylie type mitaine Syndactylie unilatérale des doigts 2-5 Syndactyly, mitten type Syndaktylie, Typ Mitten Unilateral syndactyly of digits 2-5 Unilaterale Syndaktylie der Digitalen 2-5 Sindactilia tipo 6 Sindactilia tipo 6 Sindattilia, tipo 6 Syndactylie type 6 Syndactyly type 6 Syndaktylie Typ 6 hrdo:pat_id_20956 neant Q68.1 295014 morphological anomaly Clinodactilia familiar aislada de los dedos de la mano Clinodactilia isolada familiar dos dedos da mão Clinodactylie des doigts familiale isolée Clinodattilia isolata familiare delle dita delle mani Familial isolated clinodactyly of fingers Isolierte Klinodaktylie der Finger, familiäre Form hrdo:pat_id_20957 114200 neant Q68.1 295016 morphological anomaly Camptodactilia de los dedos de la mano Camptodactilia dos dedos da mão Camptodactylie des doigts Camptodactyly of fingers Camptodattilia delle dita delle mani Kamptodaktylie der Finger hrdo:pat_id_20958 neant Q74.2 295018 clinical subtype Congenital pseudoarthrosis of the tibia Pseudoarthrose congénitale du tibia Pseudoarthrose der Tibia, kongenital Pseudoartrose congénita da tíbia Pseudoartrosi congenita della tibia Pseudoartrosis congénita de la tibia hrdo:pat_id_20959 neant Q74.2 295020 clinical subtype Congenital pseudoarthrosis of the femur Pseudoarthrose congénitale du fémur Pseudoarthrose des Femurs, kongenital Pseudoartrose congénita do fémur Pseudoartrosi congenita del femore Pseudoartrosis congénita del fémur hrdo:pat_id_20960 neant Q74.2 295022 clinical subtype Pseudoarthrose congénitale du péroné Congenital pseudoarthrosis of the fibula Pseudoarthrose congénitale de la fibula Pseudoarthrose der Fibula, kongenital Pseudoartrose congénita do perónio Pseudoartrosi congenita della fibula Pseudoartrosis congénita del peroné hrdo:pat_id_20961 neant Q74.0 295024 clinical subtype Congenital pseudoarthrosis of the radius Pseudoarthrose congénitale du radius Pseudoarthrose des Radius, kongenital Pseudoartrose congénita do rádio Pseudoartrosi congenita del radio Pseudoartrosis congénita del radio hrdo:pat_id_20962 neant Q74.0 295026 clinical subtype Pseudoarthrose congénitale du cubitus Congenital pseudoarthrosis of the ulna Pseudoarthrose congénitale de l'ulna Pseudoarthrose der Ulna, kongenital Pseudoartrose congénita do cúbito Pseudoartrosi congenita dell'ulna Pseudoartrosis congénita del cúbito hrdo:pat_id_20963 neant Q74.2 295028 morphological anomaly Fusion tibio-fibulaire Fusion tibio-péronier Fusione tibio-fibulare Fusión de tibia-peroné Fusão tibio-peronial Synostose tibio-péronier Tibio-fibular fusion Tibiofibulare Fusion Sinostose tibio-peronial Sinostosi tibio-fibulare Sinostosis de tibia-peroné Synostose tibio-fibulaire Tibio-fibular synostosis Tibiofibulare Synostose hrdo:pat_id_20964 neant Q68.8 295030 morphological anomaly Luxación congénita del hombro Congenital shoulder dislocation Dislocación congénita del hombro Dislocazione congenita della spalla Luxation congénitale de l'épaule Luxação congénita do ombro Schulterdislokation, kongenitale hrdo:pat_id_20965 neant Q68.8 295032 morphological anomaly Congenital radial head dislocation Dislocación congénita de la cabeza radial Dislocazione congenita della testa del radio Luxación congénita del codo Luxation congénitale de la tête radiale Luxação congénita da cabeça do rádio Radiuskopfdislokation, kongenitale Congenital elbow dislocation Dislocación congénita del codo Dislocazione congenita del gomito Ellenbogendislokation, kongenitale Luxation congénitale du coude Luxação congénita do cotovelo hrdo:pat_id_20966 neant Q68.2 295034 morphological anomaly Luxación congénita de la rodilla Congenital knee dislocation Dislocación congénita de la rodilla Dislocazione congenita del ginocchio Kniedislokation, kongenitale Luxation congénitale du genou Luxação congénita do joelho hrdo:pat_id_20967 neant Q74.1 295036 morphological anomaly Luxación congénita de la rótula Congenital patella dislocation Dislocación congénita de la rótula Dislocazione congenita della rotula Luxation congénitale de la rotule Luxação congénita da rótula Patelladislokation, kongenitale hrdo:pat_id_20968 neant Q74.1 295038 clinical subtype Agenesia/ipoplasia unilaterale della rotula Aplasia/hipoplasia de la rótula, unilateral Aplasia/hipoplasia unilateral da rótula Aplasie/hypoplasie unilatérale de la rotule Patella aplasia/hypoplasia, unilateral Patellaaplasia/-hypoplasie, unilateral hrdo:pat_id_20969 neant Q74.1 295041 clinical subtype Agenesia/ipoplasia bilaterale della rotula Aplasia/hipoplasia bilateral da rótula Aplasia/hipoplasia de la rótula, bilateral Aplasie/hypoplasie bilatérale de la rotule Patella aplasia/hypoplasia, bilateral Patellaaplasia/-hypoplasie, bilateral hrdo:pat_id_2097 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 139600 2220 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cotovelos peludos Coudes chevelus Gomiti pelosi Hairy elbows Mac-Dermot-Patton-Williams-Syndrom MacDermot-Patton-Williams syndrome MacDermot-Patton-Williams, síndrome de Sindrome di MacDermot-Patton-Williams Syndrome de MacDermot-Patton-Williams Síndrome de MacDermot-Patton-Williams Síndrome de MacDermot-Patton-Williams Hipertricose cubital - baixa estatura Hipertricosis cubital - talla baja Hypertrichose cubitale - petite taille Hypertrichosis cubiti - Kleinwuchs Hypertrichosis cubiti - short stature Ipertricosi dei cubiti - bassa statura hrdo:pat_id_20970 neant Q74.0 295044 morphological anomaly Macrodactilia da mão Macrodactilia de la mano Macrodactylie de la main Macrodactyly of hand Macrodattilia delle mani Makrodaktylie der Hand Macrodactilia de los dedos de la mano Macrodactilia dos dedos da mão Macrodactylie des doigts Macrodactyly of fingers Macrodattilia delle dita delle mani Makrodaktylie der Finger hrdo:pat_id_20971 neant Q74.2 295047 morphological anomaly Macrodactilia del pie Macrodactilia do pé Macrodactylie du pied Macrodactyly of foot Macrodattilia dei piedi Makrodaktylie des Fußes Macrodactilia de los dedos del pie Macrodactilia dos dedos do pé Macrodactylie des orteils Macrodactyly of toes Macrodattilia delle dita dei piedi Makrodaktylie der Zehen hrdo:pat_id_20972 neant Q74.0 295049 morphological anomaly Hipertrofia de las extremidades superiores Hipertrofia do membro superior Hypertrophie der oberen Extremitäten Hypertrophie des membres supérieurs Ipertrofia degli arti superiori Upper limb hypertrophy hrdo:pat_id_20973 neant Q74.2 295051 morphological anomaly Hipertrofia de las extremidades inferiores Hipertrofia do membro inferior Hypertrophie der unteren Extremitäten Hypertrophie des membres inférieurs Ipertrofia degli arti inferiori Lower limb hypertrophy hrdo:pat_id_20974 neant Q71.0 295053 clinical subtype Amelia de las extremidades superiores, unilateral Amelia do membro superior, unilateral Amelia of upper limb, unilateral Amelia unilaterale degli arti superiori Amelie der oberen Extremitäten, unilateral Amélie unilatérale des membres supérieurs hrdo:pat_id_20975 neant Q71.0 295055 clinical subtype Amelia bilaterale degli arti superiori Amelia de las extremidades superiores, bilateral Amelia do membro superior, bilateral Amelia of upper limb, bilateral Amelie der oberen Extremitäten, bilateral Amélie bilatérale des membres supérieurs hrdo:pat_id_20976 neant Q72.0 295057 clinical subtype Amelia de las extremidades inferiores, unilateral Amelia do membro inferior, unilateral Amelia of lower limb, unilateral Amelia unilaterale degli arti inferiori Amelie der unteren Extremitäten, unilateral Amélie unilatérale des membres inférieurs hrdo:pat_id_20977 neant Q72.0 295059 clinical subtype Amelia bilaterale degli arti inferiori Amelia de las extremidades inferiores, bilateral Amelia do membro inferior, bilateral Amelia of lower limb, bilateral Amelie der unteren Extremitäten, bilateral Amélie bilatérale des membres inférieurs hrdo:pat_id_20978 neant Q71.8 295061 clinical subtype Agénésie/hypoplasie unilatérale humérale Humeral intercalary meromelia, unilateral Humerale interkalare Meromelie, unilateral Meromelia intercalar do úmero, unilateral Meromelia intercalar humeral, unilateral Meromelia intercalare unilaterale dell'omero Méromélie intercalaire unilatérale de l'humérus Méromélie intercalaire unilatérale humérale Agenesia/hipoplasia do úmero, unilateral Agenesia/hipoplasia humeral, unilateral Agenesia/ipoplasia unilaterale dell'omero Agénésie/hypoplasie unilatérale de l'humérus Humeral agenesis/hypoplasia, unilateral Humerusagenesie/-hypoplasie, unilateral hrdo:pat_id_20979 neant Q71.8 295063 clinical subtype Agénésie/hypoplasie bilatérale humérale Humeral intercalary meromelia, bilateral Humerale interkalare Meromelie, bilateral Meromelia intercalar do úmero, bilateral Meromelia intercalar humeral, bilateral Meromelia intercalare bilaterale dell'omero Méromélie intercalaire bilatérale de l'humérus Méromélie intercalaire bilatérale humérale Agenesia/hipoplasia do úmero, bilateral Agenesia/hipoplasia humeral, bilateral Agenesia/ipoplasia bilaterale dell'omero Agénésie/hypoplasie bilatérale de l'humérus Humeral agenesis/hypoplasia, bilateral Humerusagenesie/-hypoplasie, bilateral hrdo:pat_id_2098 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 145700 307150 C538389 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Hypertrichosis/cn+OR+hypertrichosis/ge%29+%28universal*+OR+generali*+OR+lanuginosa%29 Q84.2 2222 201163007 403799003 C0235864 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hipertricose universal Hypertrichose universelle Hypertrichosis universalis Hypertrichosis universalis Ipertricosi universale Hipertricose lanuginosa congénita Hipertricosis lanuginosa congénita Hypertrichose congénitale lanugineuse Hypertrichosis lanuginosa congenita Hypertrichosis lanuginosa, kongenitale Ipertricosi lanuginosa congenita hrdo:pat_id_20980 neant Q72.4 295065 clinical subtype Agénésie/hypoplasie unilatérale du fémorale Femoral intercalary meromelia, unilateral Femorale interkalare Meromelie, unilateral Meromelia intercalar femoral, unilateral Meromelia intercalar femoral, unilateral Meromelia intercalare unilaterale del femore Méromélie intercalaire unilatérale du fémorale Méromélie intercalaire unilatérale du fémur Agenesia/hipoplasia femoral, unilateral Agenesia/hipoplasia femoral, unilateral Agenesia/ipoplasia unilaterale del femore Agénésie/hypoplasie unilatérale du fémur Femoral agenesis/hypoplasia, unilateral Femuragenesie/-hypoplasie, unilateral hrdo:pat_id_20981 neant Q72.4 295067 clinical subtype Agénésie/hypoplasie bilatérale fémorale Femoral intercalary meromelia, bilateral Femorale interkalare Meromelie, bilateral Meromelia intercalar femoral, bilateral Meromelia intercalar femoral, bilateral Meromelia intercalare bilaterale del femore Méromélie intercalaire bilatérale du fémur Méromélie intercalaire bilatérale fémorale Agenesia/hipoplasia femoral, bilateral Agenesia/hipoplasia femoral, bilateral Agenesia/ipoplasia bilaterale del femore Agénésie/hypoplasie bilatérale du fémur Femoral agenesis/hypoplasia, bilateral Femuragenesie/-hypoplasie, bilateral hrdo:pat_id_20982 neant Q71.4 295069 clinical subtype Hémimélie unilatérale radiale Meromelia longitidinal radial, unilateral Meromelia longitudinal radial, unilateral Meromelia longitudinale unilaterale del radio Méromélie longitudinale unilatérale du radius Méromélie longitudinale unilatérale radiale Radial longitidinal meromelia, unilateral Radiale longitudinale Meromelie, unilateral Emimelia unilaterale del radio Hemimelia radial, unilateral Hemimelia radial, unilateral Hémimélie unilatérale du radius Radial hemimelia, unilateral Radiale Hemimelie, unilateral hrdo:pat_id_20983 neant Q71.4 295071 clinical subtype Hémimélie bilatérale radiale Meromelia longitidinal radial, bilateral Meromelia longitudinal radial, bilateral Meromelia longitudinale del radio bilaterale Méromélie longitudinale bilatérale du radius Méromélie longitudinale bilatérale radiale Radial longitidinal meromelia, bilateral Radial longitudinale Meromelie, bilateral Emimelia bilaterale del radio Hemimelia radial, bilateral Hemimelia radial, bilateral Hémimélie bilatérale du radius Radial hemimelia, bilateral Radiale Hemimelie, bilateral hrdo:pat_id_20984 neant Q71.5 295073 clinical subtype Hémimélie bilatérale cubitale Hémimélie bilatérale du cubitus Hémimélie bilatérale ulnaire Meromelia longitidinal docúbito, bilateral Meromelia longitudinal cubital, bilateral Meromelia longitudinale dell'ulna bilaterale Méromélie longitudinale bilatérale cubitale Méromélie longitudinale bilatérale de l'ulna Méromélie longitudinale bilatérale du cubitus Méromélie longitudinale bilatérale ulnaire Ulnar longitudinal meromelia, bilateral Ulnare longitudinale Meromelie, bilateral Emimelia bilaterale dell'ulna Hemimelia cubital, bilateral Hemimelia do cúbito, bilateral Hémimélie bilatérale de l'ulna Ulnar hemimelia, bilateral Ulnare Hemimelie, bilateral hrdo:pat_id_20985 neant Q71.5 295075 clinical subtype Hémimélie unilatérale cubitale Hémimélie unilatérale du cubitus Hémimélie unilatérale ulnaire Meromelia longitudinal cubital, unilateral Meromelia longitudinal do cúbito, unilateral Meromelia longitudinale dell'ulna unilaterale Méromélie longitudinale unilatérale cubitale Méromélie longitudinale unilatérale de l'ulna Méromélie longitudinale unilatérale du cubitus Méromélie longitudinale unilatérale ulnaire Ulnar longitudinal meromelia, unilateral Ulnare longitudinale Meromelie, unilateral Emimelia unilaterale dell'ulna Hemimelia cubital, unilateral Hemimelia do cúbito, unilateral Hémimélie unilatérale de l'ulna Ulnar hemimelia, unilateral Ulnare Hemimelie, unilateral hrdo:pat_id_20986 neant Q72.5 295077 clinical subtype Hémimélie unilatérale tibiale Meromelia longitudinal tibial, unilateral Meromelia longitudinal tibial, unilateral Meromelia longitudinale della tibia unilaterale Méromélie longitudinale unilatérale du tibia Méromélie longitudinale unilatérale tibiale Tibial longitudinal meomelia, unilateral Tibiale longitudinale Meromelie, unilateral Emimelia unilaterale della tibia Hemimelia tibial, unilateral Hemimelia tibial, unilateral Hémimélie unilatérale du tibia Tibial hemimelia, unilateral Tibiale Hemimelie, unilateral hrdo:pat_id_20987 neant Q72.5 295079 clinical subtype Hémimélie bilatérale tibiale Meromelia longitudinal tibial, bilateral Meromelia longitudinal tibial, bilateral Meromelia longitudinale bilaterale della tibia Méromélie longitudinale bilatérale du tibia Méromélie longitudinale bilatérale tibiale Tibial longitudinal meomelia, bilateral Tibiale longitudinale Meromelie, bilateral Emimelia bilaterale della tibia Hemimelia tibial, bilateral Hemimelia tibial, bilateral Hémimélie bilatérale du tibia Tibial hemimelia, bilateral Tibiale Hemimelie, bilateral hrdo:pat_id_20988 neant Q72.6 295081 clinical subtype Fibular longitudinal meomelia, unilateral Fibulare longitudinale Meromelie, unilateral Hémimélie unilatérale du péroné Hémimélie unilatérale fibulaire Hémimélie unilatérale péronier Meomelia longitudinal peronea, unilateral Meromelia longitudinal do perónio, unilateral Meromelia longitudinale della fibula unilaterale Méromélie longitudinale unilatérale de la fibula Méromélie longitudinale unilatérale du péroné Méromélie longitudinale unilatérale fibulaire Méromélie longitudinale unilatérale péronier Emimelia unilaterale della fibula Fibular hemimelia, unilateral Fibulare Hemimelie, unilateral Hemimelia do perónio, unilateral Hemimelia peronea, unilateral Hémimélie unilatérale de la fibula hrdo:pat_id_20989 neant Q72.6 295083 clinical subtype Fibular longitudinal meomelia, bilateral Fibulare longitudinale Meromelie, bilateral Hémimélie bilatérale du péroné Hémimélie bilatérale fibulaire Hémimélie bilatérale péronier Meomelia longitudinal peronea, bilateral Meromelia longitudinal do perónio, bilateral Meromelia longitudinale della fibula bilaterale Méromélie longitudinale bilatérale de la fibula Méromélie longitudinale bilatérale du péroné Méromélie longitudinale bilatérale fibulaire Méromélie longitudinale bilatérale péronier Emimelia bilaterale della fibula Fibular hemimelia, bilateral Fibulare Hemimelie, bilateral Hemimelia do perónio, bilateral Hemimelia peronea, bilateral Hémimélie bilatérale de la fibula hrdo:pat_id_20990 neant Q71.1 295085 clinical subtype Humeroradioulnar intercalary transverse meromelia, unilateral Humeroradioulnare interkalartransverse Meromelie, unilateral Meromelia intercalar transversa de húmero-radio-cúbito, unilateral Meromelia intercalar transversa umero-radio-cubital, unilateral Meromelia omero-radio-ulnare trasversale intercalare unilaterale Méromélie intercalaire transverse unilatérale huméro-radio-cubitale Méromélie intercalaire transverse unilatérale huméro-radio-ulnaire Phocomélie unilatérale Absence congénitale unilatérale du bras et de l'avant-bras avec main conservée Angeborenes einseitiges Fehlen des Ober- und Unterarms mit vorhandener Hand Assenza congenita unilaterale del braccio e dell'avambraccio con presenza della mano Ausencia congénita de la parte superior del brazo y el antebrazo con presencia de la mano, unilateral Ausência congénita do braço e antebraço, com mão presente, unilateral Congenital absence of upper arm and forearm with hand present, unilateral hrdo:pat_id_20991 neant Q71.1 295087 clinical subtype Humeroradioulnar intercalary transverse meromelia, bilateral Humeroradioulnare interkalartransverse Meromelie, bilateral Meromelia intercalar transversa de húmero-radio-cúbito, bilateral Meromelia intercalar transversa umero-radio-cubital, bilateral Meromelia omero-radio-ulnare trasversale intercalare bilaterale Méromélie intercalaire transverse bilatérale huméro-radio-cubitale Méromélie intercalaire transverse bilatérale huméro-radio-ulnaire Phocomélie bilatérale Absence congénitale bilatérale du bras et de l'avant-bras avec main conservée Angeborenes beidseitiges Fehlen des Ober- und Unterarms mit vorhandener Hand Assenza congenita bilaterale del braccio e dell'avambraccio con mani presenti Ausencia congénita de la parte superior del brazo y el antebrazo con presencia de la mano, bilateral Ausência congénita do braço e antebraço, com mão presente, bilateral Congenital absence of upper arm and forearm with hand present, bilateral hrdo:pat_id_20992 neant Q72.1 295089 clinical subtype Femorofibulare interkalartransverse Meromelie, unilateral Femorotibiofibular intercalary transverse meromelia, unilateral Meromelia fermoro-tibio-fibulare trasversale intercalare unilaterale Meromelia intercalar transversa de fémur-tibia-perone, unilateral Meromelia intercalar transversa femoro-tibio-peronial, unilateral Méromélie intercalaire transverse unilatérale fémoro-tibio-fibulaire Méromélie intercalaire transverse unilatérale fémoro-tibio-péronier Absence congénitale unilatérale de la cuisse et de la jambe avec pied conservé Angeborenes einseitiges Fehlen des Unter- und Oberschenkels mit vorhandenem Fuß Assenza congenita unilaterale della coscia e della gamba con piede presente Ausencia congénita del muslo y la parte baja de la pierna con presencia del pie, unilateral Ausência congénita da coxa e perna, com pé presente, unilateral Congenital absence of thigh and lower leg with foot present, unilateral hrdo:pat_id_20993 neant Q72.1 295091 clinical subtype Femorofibulare interkalartransverse Meromelie, bilateral Femorotibiofibular intercalary transverse meromelia, bilateral Meromelia femoro-tibio-fibulare trasversale intercalare bilaterale Meromelia intercalar transversa de fémur-tibia-perone, bilateral Meromelia intercalar transversa femoro-tibio-peronial, bilateral Méromélie intercalaire transverse bilatérale fémoro-tibio-fibulaire Méromélie intercalaire transverse bilatérale fémoro-tibio-péronier Absence congénitale bilatérale de la cuisse et de la jambe avec pied conservé Angeborenes beidseitiges Fehlen des Unter- und Oberschenkels mit vorhandenem Fuß Assenza congenita bilaterale della coscia e della gamba con piedi presenti Ausencia congénita del muslo y la parte baja de la pierna con presencia del pie, bilateral Ausência congénita da coxa e perna, com pé presente, bilateral Congenital absence of thigh and lower leg with foot present, bilateral hrdo:pat_id_20994 neant Q71.2 295093 clinical subtype Meromelia radioulnare trasversale terminale unilaterale Meromelia terminal transversa de radio-cúbito, unilateral Meromelia terminal transversa radio-cubital, unilateral Méromélie terminale transverse unilatérale radio-cubitale Méromélie terminale transverse unilatérale radio-unlaire Radioulnar terminal transverse meromelia, unilateral Radioulnare terminaltransversale Meromelie, unilateral Absence congénitale unilatérale de l'avant-bras et de la main Angeborenes einseitiges Fehlen des Unterarms und der Hand Assenza congenita combinata unilaterale dell'avambraccio e della mano Ausencia congénita de antebrazo y mano, unilateral Ausência congénita de antebraço e mão, unilateral Congenital absence of both forearm and hand, unilateral hrdo:pat_id_20995 neant Q71.2 295095 clinical subtype Meromelia radioulnare trasversale terminale bilaterale Meromelia terminal transversa de radio-cúbito, bilateral Meromelia terminal transversa radio-cubital, bilateral Méromélie terminale transverse bilatérale radio-cubitale Méromélie terminale transverse bilatérale radio-unlaire Radioulnar terminal transverse meromelia, bilateral Radioulnare terminaltransversale Meromelie, bilateral Absence congénitale bilatérale de l'avant-bras et de la main Angeborenes beidseitiges Fehlen des Unterarms und der Hand Assenza congenita combinata bilaterale dell'avambraccio e della mano Ausencia congénita de antebrazo y mano, bilateral Ausência congénita de antebraço e mão, bilateral Congenital absence of both forearm and hand, bilateral hrdo:pat_id_20996 neant Q72.2 295097 clinical subtype Meromelia terminal transversa de tibia-peroné, unilateral Meromelia terminal transversa tibio-peronial, unilateral Meromelia tibiofibulare trasversale terminale unilaterale Méromélie terminale transverse unilatérale tibio-fibulaire Méromélie terminale transverse unilatérale tibio-péronier Tibiofibular terminal transverse meromelia, unilateral Tibiofibulare terminaltransversale Meromelie, unilateral Absence congénitale unilatérale de la jambe et du pied Angeborenes einseitiges Fehlen des Unterschenkels und Fußes Assenza congenita combinata unilaterale della gamba e del piede Ausencia congénita de la parte baja de la pierna y el pie, unilateral Ausência congénita da região inferior da perna e pé, unilateral Congenital absence of both lower leg and foot, unilateral hrdo:pat_id_20997 neant Q72.2 295099 clinical subtype Meromelia terminal transversa de tibia-peroné, bilateral Meromelia terminal transversa tibio-peronial, bilateral Meromelia tibiofibulare trasversale terminale bilaterale Méromélie terminale transverse bilatérale tibio-fibulaire Méromélie terminale transverse bilatérale tibio-péronier Tibiofibular terminal transverse meromelia, bilateral Tibiofibulare terminaltransversale Meromelie, bilateral Absence congénitale bilatérale de la jambe et du pied Angeborenes beidseitiges Fehlen des Unterschenkels und Fußes Assenza congenita combinata bilaterale della gamba e del piede Ausencia congénita de la parte baja de la pierna y el pie, bilateral Ausência congénita da região inferior da perna e pé, bilateral Congenital absence of both lower leg and foot, bilateral hrdo:pat_id_20998 neant Q71.3 295101 clinical subtype Absence d'une main Absent hand, unilateral Achirie unilatérale Aquiria unilateral Assenza unilaterale della mano Ausencia de una mano Ausência da mão, unilateral Fehlen der Hand, einseitig Acheiria unilateral Acheiria unilaterale Acheiria, unilateral Acheirie unilatérale Acheirie, unilaterale Aqueiria, unilateral hrdo:pat_id_20999 neant Q71.3 295103 clinical subtype Absence des deux mains Absent hand, bilateral Achirie bilatérale Aquiria bilateral Assenza bilaterale delle mani Ausencia de las dos manos Ausência da mão, bilateral Fehlen der Hand, beidseitig Acheiria bilateral Acheiria bilaterale Acheiria, bilateral Acheirie bilatérale Acheirie, bilaterale Aqueiria, bilateral hrdo:pat_id_21 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 300818 D006457 10034042 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hemoglobinuria%2C+paroxysmal%5Bmh%5D+OR+Paroxysmal+nocturnal+hemoglobinuria%5BTi%5D+OR+paroxysmal+hemoglobinuria%5Bti%5D D59.5 447 1963002 C0024790 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Doença de Marchiafava-Micheli EPN Enfermedad de Marchiafava-Micheli HPN Maladie de Marchiafava-Micheli Malattia di Marchiafava-Micheli Marchiafava-Micheli disease Marchiafava-Micheli, doença de Marchiafava-Micheli-Anämie PNH PNH Emoglobinuria parossistica notturna Hemoglobinuria paroxística nocturna Hemoglobinúria paroxística noturna Hämoglobinurie, nächtliche paroxysmale Hémoglobinurie paroxystique nocturne Paroxysmal nocturnal hemoglobinuria hrdo:pat_id_210 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 248310 611162 D008288 10025487 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=malaria%5Bmajr%5D B50 B51 B52 B53 B54 673 105649009 248437004 61462000 C0024530 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Malaria Paludismo Malaria Malaria Malaria Malaria Malária Paludisme hrdo:pat_id_2100 600627 C538393 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Hypertryptophanemia+OR+%28tryptophan/bl%5Bmajr%5D+tryptophan/ur%29+humans E70.8 2224 C2931837 disease Hipertriptofanemia Hipertriptofanemia familiar Hypertryptophanemia Hypertryptophanämie, familiäre Hypertryptophanémie familiale Ipertriptofanemia familiare hrdo:pat_id_21000 neant Q72.3 295105 clinical subtype Absence d'un pied Absent foot, unilateral Assenza unilaterale del piede Ausencia de un pie Ausência do pé, unilateral Fehlen des Fußes, einseitig Apodia unilateral Apodia unilaterale Apodia, unilateral Apodia, unilateral Apodie unilatérale Apodie, unilaterale hrdo:pat_id_21001 neant Q72.3 295107 clinical subtype Absence des deux pieds Absent foot, bilateral Assenza bilaterale dei piedi Ausencia de los dos pies Ausência do pé, bilateral Fehlen des Fußes, beidseitig Apodia bilateral Apodia bilaterale Apodia, bilateral Apodia, bilateral Apodie bilatérale Apodie, bilaterale hrdo:pat_id_21002 neant Q71.3 295110 clinical subtype Hipodactilia do polegar, unilateral Hipodactilia unilateral del pulgar Hypodactylie unilatérale du pouce Hypodaktylie mit einseitigem Fehlen des Daumens Ipodattilia unilaterale del pollice Oligodactilia do polegar, unilateral Oligodactilia unilateral del pulgar Oligodactylie unilatérale du pouce Oligodattilia unilaterale del pollice Thumb hypodactyly, unilateral Thumb oligodactyly, unilateral Absence/hypoplasie congénitale unilatérale du pouce Angeborenes Fehlen/Hypoplasie des Daumens, unilateral Assenza/ipoplasia congenita unilaterale del pollice Ausencia/hipoplasia congénita unilateral del pulgar Ausência/hipoplasia congénita do polegar, unilateral Congenital absence/hypoplasia of thumb, unilateral hrdo:pat_id_21003 neant Q71.3 295112 clinical subtype Hipodactilia bilateral del pulgar Hipodactilia do polegar, bilateral Hypodactylie bilatérale du pouce Hypodaktylie mit beidseitigem Fehlen des Daumens Ipodattilia bilaterale dei pollici Oligodactilia bilateral del pulgar Oligodactilia do polegar, bilateral Oligodactylie bilatérale du pouce Oligodattilia bilaterale dei pollici Thumb hypodactyly, bilateral Thumb oligodactyly, bilateral Absence/hypoplasie congénitale bilatérale du pouce Angeborenes Fehlen/Hypoplasie des Daumens, bilateral Assenza/ipoplasia congenita bilaterale dei pollici Ausencia/hipoplasia congénita bilateral del pulgar Ausência/hipoplasia congénita do polegar, bilateral Congenital absence/hypoplasia of thumb, bilateral hrdo:pat_id_21004 neant Q71.3 295114 clinical subtype Digitale 2-5 Hypodaktylie, bilateral Digitale 2-5 Oligodaktylie, bilateral Digits 2-5 hypodactyly, biilateral Digits 2-5 oligodactyly, biilateral Hipodactilia bilateral de los dedos 2-5 Hipodactilia dos dedos 2-5, bilateral Hypodactylie bilatérale des doigts 2-5 Ipodattilia bilaterale delle dita 2-5 Oligodactilia bilateral de los dedos 2-5 Oligodactilia dos dedos 2-5, bilateral Oligodactylie bilatérale des doigts 2-5 Oligodattilia bilaterale delle dita 2-5 Absence/hypoplasie congénitale bilatérale des doigts à l'exception du pouce Angeborenes Fehlen/Hypoplasie der Finger, exkl. Daumen, bilateral Assenza/ipoplasia congenita bilaterale delle dita delle mani, escluso il pollice Ausencia/hipoplasia congénita bilateral de los dedos excluyendo el pulgar Ausência/hipoplasia congénita dos dedos da mão excluindo o polegar, bilateral Congenital absence/hypoplasia of fingers excluding thumb, bilateral hrdo:pat_id_21005 neant Q72.3 295116 clinical subtype Absence unilatérale d'orteils Acheiropodie unilatérale Achiropodie unilatérale Assenza unilaterale delle dita dei piedi Ausencia unilateral de dedos del pie Ausência de dedos dos pés, unilateral Fehlende Zehen, unilateral Toes absent, unilateral Adactilia do pé, unilateral Adactilia unilateral del pie Adactylie unilatérale du pied Adactyly of foot, unilateral Adaktylie des Fußes, unilateral Adattilia unilaterale del piede hrdo:pat_id_21006 neant Q72.3 295118 clinical subtype Absence bilatérale d'orteils Acheiropodie bilatérale Achiropodie bilatérale Assenza bilaterale delle dita dei piedi Ausencia bilateral de dedos del pie Ausência de dedos dos pés, bilateral Fehlende Zehen, bilateral Toes absent, bilateral Adactilia bilateral del pie Adactilia do pé, bilateral Adactylie bilatérale du pied Adactyly of foot, bilateral Adaktylie des Fußes, bilateral Adattilia bilaterale dei piedi hrdo:pat_id_21007 neant Q71.6 295120 clinical subtype Main fendue, unilatéral Mano hendida unilateral Mão fendida, unilateral Schisi unilaterale della mano Spalthand, unilateral Split hand, unilateral hrdo:pat_id_21008 neant Q71.6 295122 clinical subtype Main fendue, bilatéral Mano hendida bilateral Mão fendida, bilateral Schisi bilaterale delle mani Spalthand, bilateral Split hand, bilateral hrdo:pat_id_21009 neant Q72.7 295124 clinical subtype Pie hendido unilateral Pied fendu, unilatéral Pé fendido, unilateral Schisi unilaterale del piede Spaltfuß, unilateral Split foot, unilateral hrdo:pat_id_2101 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 106600 114600 147330 150400 302400 313500 602639 604625 10055001 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Hypodontia%5Bti%5D+OR+Anodontia%5Bti%5D+OR+Anodontia%5Bmajr%5D K00.0 2227 64969001 C0020608 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive morphological anomaly >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Agénésie dentaire Tooth agenesis Hipodoncia Hipodontia Hypodontia Hypodontie Hypodontie Ipodonzia hrdo:pat_id_21010 neant Q72.7 295126 clinical subtype Pie hendido bilateral Pied fendu, bilatéral Pé fendido, bilateral Schisi bilaterale dei piedi Spaltfuß, bilateral Split foot, bilateral hrdo:pat_id_21011 neant Q71.8 295128 clinical subtype Dedos da mão curtos, unilateral Dedos de las manos cortos, unilateral Dita delle mani corte, forma unilaterale Doigts courts, unilatéral Kurze Finger, unilateral Short fingers, unilateral Brachidattilia unilaterale delle dita delle mani Brachydactylie des doigts, unilatéral Brachydactyly of fingers, unilateral Brachydakytlie der Finger, unilateral Braquidactilia dos dedos da mão, unilateral Braquidactilia unilateral de los dedos de la mano hrdo:pat_id_21012 neant Q71.8 295130 clinical subtype Dedos da mão curtos, bilateral Dedos de las manos cortos, bilateral Dita delle mani corte, forma bilaterale Doigts courts, bilatéral Kurze Finger, bilateral Short fingers, bilateral Brachidattilia bilaterale delle dita delle mani Brachydactylie des doigts, bilatéral Brachydactyly of fingers, bilateral Brachydakytlie der Finger, bilateral Braquidactilia de los dedos de la mano, Braquidactilia dos dedos da mão, bilateral hrdo:pat_id_21013 neant Q72.8 295132 clinical subtype Dedos de los pies cortos, unilateral Dedos do pé curtos, unilateral Dita dei piedi corte, forma unilaterale Kurze Zehen, unilateral Orteils courts, unilatéral Short toes, unilateral Brachidattilia unilaterale delle dita dei piedi Brachydactylies des orteils, unilatéral Brachydactyly of toes, unilateral Brachydakytlie der Zehen, unilateral Braquidactilia dos dedos do pé, unilateral Braquidactilia unilateral de los dedos del pie hrdo:pat_id_21014 neant Q72.8 295134 clinical subtype Dedos de los pies cortos, bilateral Dedos do pé curtos, bilateral Dita dei piedi corte, forma bilaterale Kurze Zehen, bilateral Orteils courts, bilatéral Short toes, bilateral Brachidattilia bilaterale delle dita dei piedi Brachydactylies des orteils, bilatéral Brachydactyly of toes, bilateral Brachydakytlie der Zehen, bilateral Braquidactilia bilateral de los dedos del pie Braquidactilia dos dedos do pé, bilateral hrdo:pat_id_21015 neant Q73.8 295136 clinical subtype Simbraquidactilia da mão e do pé, unilateral Simbraquidactilia unilateral de manos y pies Sinbrachidattilia unilaterale della mano e del piede Symbrachydactylie unilatérale de la main et du pied Symbrachydactyly of hand and foot, unilateral Symbrachydakytlie der Hände und Füße, unilateral hrdo:pat_id_21016 neant Q73.8 295138 clinical subtype Simbraquidactilia bilateral de manos y pies Simbraquidactilia da mão e do pé, bilateral Sinbrachidattilia bilaterale delle mani e dei piedi Symbrachydactylie bilatérale de la main et du pied Symbrachydactyly of hand and foot, bilateral Symbrachydakytlie der Hände und Füße, bilateral hrdo:pat_id_21017 neant Q74.0 295140 clinical subtype Falange soprannumeraria, forma unilaterale Falange supernumeraria, unilateral Falange supernumerária, unilateral Falanges supernumerarias, unilateral Falanges supernumerárias, unilateral Falangi soprannumerarie, forma unilaterale Hiperfalangia en los dedos 2-5 Hiperfalangia nos dedos 2-5 Hyperphalangie der Digitalen 2-5 Hyperphalangie des doigts 2-5 Hyperphalangy in digits 2-5 Iperfalangia delle dita 2-5 Phallange surnuméraire, unilatérale Supernumerary phallanges, unilateral Supernumerary phallanx, unilateral Überzählige Phalangen, unilateral Hiperfalangia unilateral Hiperfalangia, unilateral Hyperphalangie unilatérale Hyperphalangie, unilateral Hyperphalangy, unilateral Iperfalangia unilaterale hrdo:pat_id_21018 neant Q74.0 295142 clinical subtype Falange soprannumeraria, forma bilaterale Falange supernumeraria, bilateral Falange supernumerária, bilateral Falanges supernumerarias, bilateral Falanges supernumerárias, bilateral Falangi soprannumerarie, forma bilaterale Phallange surnuméraire, bilatérale Supernumerary phallanges, bilateral Supernumerary phallanx, bilateral Überzählige Phalangen, bilateral Hiperfalangia bilateral Hiperfalangia, bilateral Hyperphalangie bilatérale Hyperphalangie, bilateral Hyperphalangy, bilateral Iperfalangia bilaterale hrdo:pat_id_21019 neant Q69.1 295144 clinical subtype Polidactilia preaxial unilateral tipo 1 Polidactilia pré-axial tipo 1, unilateral Polidattilia preassiale unilaterale, tipo 1 Polydactylie préaxiale type 1, unilatérale Preaxial polydactyly type 1, unilateral Präaxiale Polydaktylie Typ 1, unilateral Polidactilia do polegar, unilateral Polidactilia unilateral del dedo pulgar Polidattilia unilaterale del pollice Polydactylie unilatérale d'un pouce biphalangé Polydactyly of the thumb, unilateral Polydaktylie des Daumens, unilateral hrdo:pat_id_2102 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 189500 neant Q82.4 2228 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Dente-unha, síndrome Hipodontia - disgenesia das unhas Hypodontia - nail dysgenesis Hypodontie - Nageldysgenesie Sindrome denti-unghie Sindrome di Witkop Syndrome de Witkop Syndrome dents et ongles Síndrome de Witkop Síndrome de Witkop Síndrome de dientes y uñas Síndrome dente-unha Tooth and nail syndrome Witkop syndrome Witkop, síndrome de Witkop-Syndrom Zahn-Nagel-Syndrom Hipodoncia - disgenesia ungueal Hipodontia - displasia das unhas Hypodontia - dysplasia of nails Hypodontie - Nageldysplasie Hypodontie - dysplasie unguéale Ipodonzia - displasia ungueale hrdo:pat_id_21020 neant Q69.1 295146 clinical subtype Polidactilia bilateral preaxial tipo 1 Polidactilia pré-axial tipo 1, bilateral Polidattilia preassiale bilaterale, tipo 1 Polydactylie préaxiale type 1, bilatérale Preaxial polydactyly type 1, bilateral Präaxiale Polydaktylie Typ 1, bilateral Polidactilia del dedo pulgar, bilateral Polidactilia do polegar, bilateral Polidattilia bilaterale dei pollici Polydactylie bilatérale d'un pouce biphalangé Polydactyly of the thumb, bilateral Polydaktylie des Daumens, bilateral hrdo:pat_id_21021 neant Q69.1 295148 clinical subtype PPD2 unilateral PPD2 unilateral PPD2 unilaterale PPD2 unilatérale Polidactilia pré-axial tipo 2, unilateral Polidactilia unilateral preaxial tipo 2 Polidattilia preassiale unilaterale, tipo 2 Polydactylie préaxiale type 2, unilatérale Preaxial polydactyly type 2, unilateral Präaxiale Polydaktylie Typ 2, unilateral Unilateral PPD2 Unilaterale PPD2 Polidactilia de um polegar trifalângico, unilateral Polidactilia unilateral del pulgar trifalángico Polidattilia unilaterale del pollice trifalangeo Polydactylie unilatérale d'un pouce triphalangé Polydactyly of a triphalangeal thumb, unilateral Polydaktylie des triphalangealen Daumens, unilateral hrdo:pat_id_21022 neant Q69.1 295150 clinical subtype Bilateral PPD2 Bilaterale PPD2 PPD2 bilateral PPD2 bilateral PPD2 bilaterale PPD2 bilatérale Polidactilia preaxial bilateral tipo 2 Polidactilia pré-axial tipo 2, bilateral Polidattilia preassiale bilaterale, tipo 2 Polydactylie préaxiale type 2, bilatérale Preaxial polydactyly type 2, bilateral Präaxiale Polydaktylie Typ 2, bilateral Polidactilia bilateral del pulgar trifalángico Polidactilia de um polegar trifalângico, bilateral Polidattilia bilaterale dei pollici trifalangei Polydactylie bilatérale d'un pouce triphalangé Polydactyly of a triphalangeal thumb, bilateral Polydaktylie des triphalangealen Daumens, bilateral hrdo:pat_id_21023 neant Q69.0 295152 clinical subtype Polidactilia preaxial unilateral tipo 3 Polidactilia pré-axial tipo 3, bilateral Polidattilia preassiale bilaterale, tipo 3 Polydactylie unilatérale de l'index Preaxial polydactyly type 3, bilateral Präaxiale Polydaktylie Typ 3, bilateral Polidactilia de um dedo indicador, unilateral Polidactilia unilateral del dedo índice Polidattilia unilaterale dell'indice Polydactylie préaxiale type 3, unilaterale Polydactyly of an index finger, unilateral Polydaktylie des Zeigefingers, unilateral hrdo:pat_id_21024 neant Q69.0 295154 clinical subtype Polidactilia preaxial bilateral tipo 3 Polidactilia pré-axial tipo 3, bilateral Polidattilia preassiale bilaterale, tipo 3 Polydactylie bilatérale de l'index Preaxial polydactyly type 3, bilateral Präaxiale Polydaktylie Typ 3, bilateral Polidactilia bilateral del dedo índice Polidactilia de um dedo indicador, bilateral Polidattilia bilaterale dell'indice Polydactylie préaxiale type 3, bilaterale Polydactyly of an index finger, bilateral Polydaktylie des Zeigefingers, bilateral hrdo:pat_id_21025 neant Q70.4 295159 clinical subtype Polidactilia preaxial unilateral tipo 4 Polidactilia pré-axial tipo 4 , bilateral Polidattilia preassiale unilaterale, tipo 4 Polydactylie préaxiale type 4, unilaterale Preaxial polydactyly type 4, bilateral Präaxiale Polydaktylie Typ 4, bilateral Polisindactilia unilateral Polisindattilia unilaterale Polissindactilia, unilateral Polysyndactylie unilatérale Polysyndactyly, unilateral Polysyndaktylie, unilateral hrdo:pat_id_21026 neant Q70.4 295161 clinical subtype Polidactilia preaxial bilateral tipo 4 Polidactilia pré-axial tipo 4 , bilateral Polidattilia preassiale bilaterale, tipo 4 Polydactylie préaxiale type 4, bilaterale Preaxial polydactyly type 4, bilateral Präaxiale Polydaktylie Typ 4, bilateral Polisindactilia bilateral Polisindattilia bilaterale Polissindactilia, bilateral Polysyndactylie bilatérale Polysyndactyly, bilateral Polysyndaktylie, bilateral hrdo:pat_id_21027 neant Q69.0 295163 clinical subtype Polidactilia postaxial unilateral tipo A Polidactilia pós-axial tipo A, unilateral Polidattilia postassiale unilaterale, tipo A Polydactylie postaxiale type A, unilatérale Postaxial polydactyly type A, unilateral Postaxiale Polydaktylie Typ A, unilateral hrdo:pat_id_21028 neant Q69.0 295165 clinical subtype Polidactilia postaxial bilateral tipo A Polidactilia pós-axial tipo A, bilateral Polidattilia postassiale bilaterale, tipo A Polydactylie postaxiale type A, bilatérale Postaxial polydactyly type A, bilateral Postaxiale Polydaktylie Typ A, bilateral hrdo:pat_id_21029 neant Q69.0 295167 clinical subtype Polidactilia postaxial unilateral tipo B Polidactilia pós-axial tipo B, unilateral Polidattilia postassiale unilaterale, tipo B Polydactylie postaxiale type B, unilatérale Postaxial polydactyly type B, unilateral Postaxiale Polydaktylie Typ B, unilateral hrdo:pat_id_2103 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 122430 neant Q87.0 1051 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Ramos-Arroyo syndrome Ramos-Arroyo-Clark, síndrome de Ramos-Arroyo-Syndrom Sindrome di Ramos-Arroyo Syndrome de Ramos-Arroyo Síndrome de Ramos-Arroyo Síndrome de Ramos-Arroyo-Clark Anestesia corneal - sordera - déficit intelectual Anestesia corneale - sordità - deficit cognitivo Anestesia da córnea - surdez - atraso mental Anesthésie cornéenne - anomalies rétiniennes - surdité Cornea-Anästhesie - Schwerhörigkeit - geistige Retardierung Corneal anesthesia - deafness - intellectual deficit hrdo:pat_id_21030 neant Q69.0 295169 clinical subtype Polidactilia postaxial bilateral tipo B Polidactilia pós-axial tipo B, bilateral Polidattilia postassiale bilaterale, tipo B Polydactylie postaxiale type B, bilatérale Postaxial polydactyly type B, bilateral Postaxiale Polydaktylie Typ B, bilateral hrdo:pat_id_21031 neant Q69.0 295171 clinical subtype Main en mirroir unilatérale Mano a specchio, forma unilaterale Mano en espejo unilateral Mesoaxial polydactyly of fingers, unilateral Mesoaxiale Polydaktylie der Finger, unilateral Mirror hand, unilateral Mão em espelho, unilateral Polidactilia mesoaxial dos dedos da mão, unilateral Polidactilia mesoaxial unilateral de los dedos de la mano Polidattilia mesoassiale unilaterale delle dita delle mani Polydactylie centrale unilatérale de la main Polydactylie mésoaxiale unilatérale de la main Polydactylie mésoaxiale unilatérale des doigts Speigelhand, unilateral Central polydactyly of fingers, unilateral Polidactilia central dos dedos da mão, unilateral Polidactilia central unilateral de los dedos de la mano Polidattilia centrale unilaterale delle dita delle mani Polydactylie centrale unilatérale des doigts Zentrale Polydaktylie der Finger, unilateral hrdo:pat_id_21032 neant Q69.0 295173 clinical subtype Main en mirroir bilatérale Mani a specchio, forma bilaterale Mano en espejo bilateral Mesoaxial polydactyly of fingers, bilateral Mesoaxiale Polydaktylie der Finger, bilateral Mirror hand, bilateral Mão em espelho, bilateral Polidactilia mesoaxial bilateral de los dedos de la mano Polidactilia mesoaxial dos dedos da mão, bilateral Polidattilia mesoassiale bilaterale delle dita delle mani Polydactylie centrale bilatérale de la main Polydactylie mésoaxiale bilatérale de la main Polydactylie mésoaxiale bilatérale des doigts Speigelhand, bilateral Central polydactyly of fingers, bilateral Polidactilia central bilateral de los dedos de la mano Polidactilia central dos dedos da mão, bilateral Polidattilia centrale bilaterale delle dita delle mani Polydactylie centrale bilatérale des doigts Zentrale Polydaktylie der Finger, bilateral hrdo:pat_id_21033 neant Q69.2 295175 clinical subtype Alluce bifido, forma unilaterale Alluci slargati forma unilaterale Bifid great toes, unilateral Bifid hallux, unilateral Dedo gordo del pie bífido, unilateral Dedos grandes do pé bífidos, unilateral Gros orteil bifide, unilatéral Großzehe, zweigeteilte, unilateral Hallux bífido unilateral Halux bífido, unilateral Polydactylie préaxiale unilatérale du pied Verdoppelung der Großzehe, unilateral Polidactilia preaxial unilateral de los dedos del pie Polidactilia pré-axial dos dedos do pé, unilateral Polidattilia preassiale unilaterale delle dita dei piedi Polydactylie préaxiale unilatérale des orteils Preaxial polydactyly of toes, unilateral Präaxiale Polydaktylie der Zehen, unilateral hrdo:pat_id_21034 neant Q69.2 295177 clinical subtype Alluce bifido, forma bilaterale Alluci bifidi, forma bilaterale Bifid great toes, bilateral Bifid halluces, bilateral Bifid hallux, bilateral Dedo gordo del pie bífido, bilateral Dedos grandes do pé bífidos, bilateral Gros orteil bifide, bilatéral Großzehe, zweigeteilte, bilateral Halluces bífidos, bilateral Hallux bífido bilateral Halux bífido, bilateral Polydactylie préaxiale bilatérale du pied Verdoppelung der Großzehe, bilateral Polidactilia preaxial de los dedos del pie, bilateral Polidactilia pré-axial dos dedos do pé, bilateral Polidattialia preassiale bilaterale delle dita dei piedi Polydactylie préaxiale bilatérale des orteils Preaxial polydactyly of toes, bilateral Präaxiale Polydaktylie der Zehen, bilateral hrdo:pat_id_21035 neant Q69.2 295179 clinical subtype Polydactylie postaxiale unilatérale du pied Polidactilia postaxial unilateral de los dedos del pie Polidactilia pós-axial dos dedos do pé, unilateral Polidattilia postassiale unilaterale delle dita dei piedi Polydactylie postaxiale unilatérale des orteils Postaxial polydactyly of toes, unilateral Postaxiale Polydaktylie der Zehen, unilateral hrdo:pat_id_21036 neant Q69.2 295181 clinical subtype Polydactylie postaxiale bilatérale du pied Polidactilia postaxial bilateral de los dedos del pie Polidactilia pós-axial dos dedos do pé, bilateral Polidattilia postassiale bilaterale delle dita dei piedi Polydactylie postaxiale bilatérale des orteils Postaxial polydactyly of toes, bilateral Postaxiale Polydaktylie der Zehen, bilateral hrdo:pat_id_21037 neant Q69.2 295183 clinical subtype Mesoaxial polydactyly of toes, unilateral Mesoaxiale Polydaktylie der Zehen, unilateral Mirror foot, unilateral Pie en espejo unilateral Pied en mirroir, unilatéral Piede a specchio, forma unilaterale Polidactilia mesoaxial dos dedos do pé, unilateral Polidactilia mesoaxial unilateral de los dedos del pie Polidattilia mesoassiale unilaterale delle dita dei piedi Polydactylie centrale unilatérale du pied Polydactylie mésoaxiale unilatérale des orteils Polydactylie mésoaxiale unilatérale du pied Pé em espelho, unilateral Spiegelfuß, unilateral Central polydactyly of toes, unilateral Polidactilia central dos dedos do pé, unilateral Polidactilia central unilateral de los dedos del pie Polidattilia centrale unilaterale delle dita dei piedi Polydactylie centrale unilatérale des orteils Zentrale Polydaktylie der Zehen, unilateral hrdo:pat_id_21038 neant Q69.2 295185 clinical subtype Mesoaxial polydactyly of toes, bilateral Mesoaxiale Polydaktylie der Zehen, bilateral Mirror foot, bilateral Pie en espejo bilateral Pied en mirroir, bilatéral Piedi a specchio, forma bilaterale Polidactilia mesoaxial bilateral de los dedos del pie Polidactilia mesoaxial dos dedos do pé, bilateral Polidattilia mesoassiale bilaterale delle dita dei piedi Polydactylie centrale bilatérale du pied Polydactylie mésoaxiale bilatérale des orteils Polydactylie mésoaxiale bilatérale du pied Pé em espelho, bilateral Spiegelfuß, bilateral Central polydactyly of toes, bilateral Polidactilia central bilateral de los dedos del pie Polidactilia central dos dedos do pé, bilateral Polidattilia centrale unilaterale delle dita dei piedi Polydactylie centrale bilatérale des orteils Zentrale Polydaktylie der Zehen, bilateral hrdo:pat_id_21039 609815 neant Q70.3 295187 clinical subtype SD1 tipo Weidenreich SD1 type Weidenreich SD1, Typ Weidenreich SD1, Weidenreich type SD1, tipo Weidenreich SD1, tipo Weidenreich SD1a SD1a SD1a SD1a SD1a SD1a Sindactilia tipo 1, tipo Weidenreich Sindactilia tipo 1, tipo Weidenreich Sindactilia tipo 1a Sindactilia tipo 1a Sindattilia tipo 1, tipo Weidenreich Sindattilia, tipo 1a Syndactylie type 1 type Weidenreich Syndactylie type 1a Syndactyly type 1, Weidenreich type Syndactyly type 1a Syndaktylie Typ 1, Typ Weidenreich Syndaktylie Typ 1a Zigodactilia tipo Weidenreich Zigodactilia, tipo Weidenreich Zigodattilia, tipo Weidenreich Zygodactylie type Weidenreich Zygodactyly, Weidenreich type Zygodaktylie, Typ Weidenreich Zigodactilia tipo 1 Zigodactilia tipo 1 Zigodattilia, tipo 1 Zygodactylie type 1 Zygodactyly type 1 Zygodaktylie Typ 1 hrdo:pat_id_2104 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 212112 neant 2229 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cardiogenital syndrome Kardiogenitales Syndrom Malouf syndrome Malouf-Syndrom Najjar syndrome Najjar-Syndrom Sindrome cardiogenitale Sindrome di Malouf Sindrome di Najjar Syndrome cardiogénital Syndrome de Malouf Syndrome de Najjar Síndrome cardiogenital Síndrome de Najjar Cardiomiopatia dilatativa - ipogonadismo ipergonadotropo Cardiomyopathie dilatée - hypogonadisme hypergonadotrope Dilated cardiomyopathy - hypergonadotropic hypogonadism Hipogonadismo - miocardiopatia Kardiomyopathie, dilatative - hypergonadotroper Hypogonadismus Miocardiopatía dilatada - hipogonadismo hipergonadotrófico hrdo:pat_id_21040 neant Q70 295189 clinical subtype SD1 tipo Lueken SD1 type Lueken SD1, Lueken type SD1, Typ Lueken SD1, tipo Lueken SD1, tipo Lueken SD1b SD1b SD1b SD1b SD1b SD1b Sindactilia tipo 1, tipo Lueken Sindactilia tipo 1, tipo Lueken Sindactilia tipo 1b Sindactilia tipo 1b Sindattilia tipo 1, tipo Lueken Sindattilia, tipo 1b Syndactylie type 1 type Lueken Syndactylie type 1b Syndactyly type 1, Lueken type Syndactyly type 1b Syndaktylie Typ 1, Typ Lueken Syndaktylie Typ 1b Zigodactilia tipo Lueken Zigodactilia, tipo Lueken Zigodattilia, tipo Lueken Zygodactylie type Lueken Zygodactyly, Lueken type Zygodaktylie Typ Lueken Zigodactilia tipo 2 Zigodactilia tipo 2 Zigodattilia, tipo 2 Zygodactylie type 2 Zygodactyly type 2 Zygodaktylie Typ 2 hrdo:pat_id_21041 neant Q70 295191 clinical subtype SD1 Typ Montagu SD1 tipo Montagu SD1 type Montagu SD1, Montagu type SD1, tipo Montagu SD1, tipo Montagu SD1c SD1c SD1c SD1c SD1c SD1c Sindactilia tipo 1, tipo Montagu Sindactilia tipo 1, tipo Montagu Sindactilia tipo 1c Sindactilia tipo 1c Sindattilia tipo 1, tipo Montagu Sindattilia, tipo 1c Syndactylie type 1 type Montagu Syndactylie type 1c Syndactyly type 1, Montagu type Syndactyly type 1c Syndaktylie Typ 1, Typ Montagu Syndaktylie Typ 1c Zigodactilia tipo Montagu Zigodactilia, tipo Montagu Zigodattilia, tipo Montagu Zygodactylie type Montagu Zygodactyly, Montagu type Zygodaktylie Typ Montagu Zigodactilia tipo 3 Zigodactilia tipo 3 Zigodattilia, tipo 3 Zygodactylie type 3 Zygodactyly type 3 Zygodaktylie Typ 3 hrdo:pat_id_21042 neant Q70.3 295193 clinical subtype SD1 Typ Castilla SD1 tipo Castilla SD1 type Castilla SD1, Castilla type SD1, tipo Castilla SD1, tipo Castilla SD1d SD1d SD1d SD1d SD1d SD1d Sindactilia tipo 1, tipo Castilla Sindactilia tipo 1, tipo Castilla Sindactilia tipo 1d Sindactilia tipo 1d Sindattilia tipo 1, tipo Castilla Sindattilia, tipo 1d Syndactylie type 1 type Castilla Syndactylie type 1d Syndactyly type 1, Castilla type Syndactyly type 1d Syndaktylie Typ 1d Syndaktylie Typ 1d, Typ Castilla Zigodactilia tipo Castilla Zigodactilia, tipo Castilla Zigodattilia, tipo Castilla Zygodactylie type Castilla Zygodactyly, Castilla type Zygodaktylie Typ Castilla Zigodactilia tipo 4 Zigodactilia tipo 4 Zigodattilia, tipo 4 Zygodactylie type 4 Zygodactyly type 4 Zygodaktylie Typ 4 hrdo:pat_id_21043 186000 neant Q70.9 295195 clinical subtype Polisindactilia tipo Vordingborg SD2 Typ Vordingborg SD2 tipo Vordingborg SD2 type Vordingborg SD2, Vordingborg type SD2, tipo Vordingborg SD2, tipo Vordingborg SD2a SD2a SD2a SD2a SD2a SD2a SPD Typ Vordingborg SPD tipo Vordingborg SPD type Vordingborg SPD, Vordingborg type SPD, tipo Vordingborg SPD, tipo Vordingborg SPD1 SPD1 SPD1 SPD1 SPD1 SPD1 Simpolidactilia, tipo Vordingborg Sinpolidattilia, tipo Vordingborg Sympolydactylie type Vordingborg Synpolydactyly, Vordingborg type Synpolydaktylie Typ Vordingborg Polisindactilia tipo 1 Simpolidactilia tipo 1 Sinpolidattilia, tipo 1 Sympolydactylie type 1 Synpolydactyly type 1 Synpolydaktylie Typ 1 hrdo:pat_id_21044 608180 neant Q70 295197 clinical subtype Polisindactilia tipo Debeer SD2 Typ Debeer SD2 tipo Debeer SD2 type Debeer SD2, Debeer type SD2, tipo Debeer SD2, tipo Debeer SD2b SD2b SD2b SD2b SD2b SD2b SPD Typ Debeer SPD tipo Debeer SPD type Debeer SPD, Debeer type SPD, tipo Debeer SPD, tipo Debeer SPD2 SPD2 SPD2 SPD2 SPD2 SPD2 Simpolidactilia, tipo Debeer Sinpolidattilia, tipo Debeer Sympolydactylie type Debeer Synpolydactyly, Debeer type Synpolydaktylie Typ Debeer Polisindactilia tipo 2 Simpolidactilia, tipo 2 Sinpolidattilia, tipo 2 Sympolydactylie type 2 Synpolydactyly type 2 Synpolydaktylie Typ 2 hrdo:pat_id_21045 610234 neant Q70 295199 clinical subtype Polisindactilia tipo Malik SD2 Typ Malik SD2 tipo Malik SD2 type Malik SD2, Malik type SD2, tipo Malik SD2, tipo Malik SD2c SD2c SD2c SD2c SD2c SD2c SPD Typ Malik SPD tipo Malik SPD type Malik SPD, Malik type SPD, tipo Malik SPD, tipo Malik SPD3 SPD3 SPD3 SPD3 SPD3 SPD3 Simpolidactilia, tipo Malik Sinpolidattilia, tipo Malik Sympolydactylie type Malik Synpolydactyly, Malik type Synpolydaktylie, Typ Malik Polisindactilia tipo 3 Simpolidactilia, tipo 3 Sinpolidattilia, tipo 3 Sympolydactylie type 3 Synpolydactyly type 3 Synpolydaktylie Typ 3 hrdo:pat_id_21046 neant Q66.8 295201 clinical subtype Pied en piolet congénital unilatéral Astrágalo vertical congénito unilateral Congenital vertical talus, unilateral Pied convexe congénital unilatéral Talo vertical congénito, unilateral Talo verticale congenita unilaterale Talus verticalis, kongenital, unilateral hrdo:pat_id_21047 neant Q66.8 295203 clinical subtype Pied en piolet congénital bilatéral Astrágalo vertical congénito bilateral Congenital vertical talus, bilateral Pied convexe congénital bilatéral Talo vertical congénito, bilateral Talo verticale congenito bilaterale Talus verticalis, kongenital, bilateral hrdo:pat_id_21048 neant Q74.0 295205 clinical subtype Fusion huméro-radio-cubitale, unilatérale Fusion huméro-radio-ulnaire, unilatérale Fusione omero-radio-ulnare unilaterale Fusión unilateral de húmero-radio-cúbito Fusão umero-radio-cubital, unilateral Humero-radio-ulnar fusion, unilateral Humeroradioulnare Fusion, unilaterale Synostose huméro-radio-cubitale, unilatérale Humero-radio-ulnar synostosis, unilateral Humeroradioulnare Synostose, unilaterale Sinostose umero-radio-cubital, unilateral Sinostosi omero-radio-ulnare unilaterale Sinostosis unilateral de húmero-radio-cúbito Synostose huméro-radio-ulnaire, unilatérale hrdo:pat_id_21049 neant Q74.0 295207 clinical subtype Fusion huméro-radio-cubitale, bilatérale Fusion huméro-radio-ulnaire, bilatérale Fusione omero-radio-ulnare bilaterale Fusión bilateral húmero-radio-cubital Fusão umero-radio-cubital, bilateral Humero-radio-ulnar fusion, bilateral Humeroradioulnare Fusion, bilaterale Synostose huméro-radio-cubitale, bilatérale Humero-radio-ulnar synostosis, bilateral Humeroradioulnare Synostose, bilaterale Sinostose umero-radio-cubital, bilateral Sinostosi omero-radio-ulnare bilaterale Sinostosis bilateral húmero-radio-cubital Synostose huméro-radio-ulnaire, bilatérale hrdo:pat_id_2105 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant 2230 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Salti-Salem syndrome Salti-Salem, síndrome de Salti-Salem-Syndrom Sindrome di Salti-Salem Syndrome de Salti-Salem Síndrome de Salti-Salem Síndrome de Salti-Salem Hipogonadismo hipogonadotrófico - alopecia Hipogonadismo hipogonadotrópico - alopecia fronto parietal Hypogonadisme hypergonadotrope - alopécie frontopariétale Hypogonadotroper Hypogonadismus - frontoparietale Alopezie Hypogonadotropic hypogonadism - frontoparietal alopecia Ipogonadismo ipogonadotropo - alopecia frontoparietale hrdo:pat_id_21050 neant Q74.0 295209 clinical subtype Fusion huméro-radiale, unilatérale Fusione omero-radiale unilaterale Fusión unilateral de húmero-radio Fusão umero-radial, unilateral Humero-radial fusion, unilateral Humeroradiale Fusion, unilaterale Humero-radial synostosis, unilateral Humeroradiale Synostose, unilaterale Sinostose umero-radial, unilateral Sinostosi omero-radio-ulnare unilaterale Sinostosis unilateral de húmero-radio Synostose huméro-radiale, unilatérale hrdo:pat_id_21051 neant Q74.0 295211 clinical subtype Fusion huméro-radiale, bilatérale Fusione omero-radiale bilaterale Fusión bilateral húmero-radial Fusão umero-radial, bilateral Humero-radial fusion, bilateral Humeroradiale Fusion, bilaterale Humero-radial synostosis, bilateral Humeroradiale Synostose, bilaterale Sinostose umero-radial, bilateral Sinostosi omero-radiale bilaterale Sinostosis bilateral húmero-radial Synostose huméro-radiale, bilatérale hrdo:pat_id_21052 neant Q74.0 295213 clinical subtype Fusion huméro-cubitale, unilatérale Fusion huméro-ulnaire, unilatérale Fusione omero-ulnare unilaterale Fusión unilateral de húmero-cúbito Fusão umero-cubital, unilateral Humero-ulnar fusion, unilateral Humeroulnare Fusion, unilaterale Synostose huméro-cubitale, unilatérale Humero-ulnar synostosis, unilateral Humeroulnare Synostose, unilaterale Sinostose umero-cubital, unilateral Sinostosi omero-ulnare unilaterale Sinostosis unilateral de húmero-cúbito Synostose huméro-ulnaire, unilatérale hrdo:pat_id_21053 neant Q74.0 295215 clinical subtype Fusion huméro-cubitale, bilatérale Fusion huméro-ulnaire, bilatérale Fusione omero-ulnare bilaterale Fusión bilateral húmero-cúbital Fusão umero-cubital, bilateral Humero-ulnar fusion, bilateral Humeroulnare Fusion, bilaterale Synostose huméro-cubitale, bilatérale Humero-ulnar synostosis, bilateral Humeroulnare Synostose, bilaterale Sinostose umero-cubital, bilateral Sinostosi omero-ulnare bilaterale Sinostosis bilateral húmero-cubital Synostose huméro-ulnaire, bilatérale hrdo:pat_id_21054 neant Q74.0 295217 clinical subtype Fusion radio-cubitale, unilatérale Fusion radio-ulnaire, unilatérale Fusione radio-ulnare unilaterale Fusión unilateral de radio-cúbito Fusão radio-cubital, unilateral Radio-ulnar fusion, unilateral Radioulnare Fusion, unilaterale Synostose radio-cubitale, unilatérale Radio-ulnar synostosis, unilateral Radioulnare Synostose, unilaterale Sinostose radio-cubital, unilateral Sinostosi radio-ulnare unilaterale Sinostosis unilateral de radio-cúbito Synostose radio-ulnaire, unilatérale hrdo:pat_id_21055 neant Q74.0 295219 clinical subtype Fusion radio-cubitale, bilatérale Fusion radio-ulnaire, bilatérale Fusione radio-ulnare bilaterale Fusión bilateral radio-cubital Fusão radio-cubital, bilateral Radio-ulnar fusion, bilateral Radioulnare Fusion, bilaterale Synostose radio-cubitale, bilatérale Radio-ulnar synostosis, bilateral Radioulnare Synostose, bilaterale Sinostose radio-cubital, bilateral Sinostosi radio-ulnare bilaterale Sinostosis bilateral radio-cubital Synostose radio-ulnaire, bilatérale hrdo:pat_id_21056 neant Q74.0 295221 clinical subtype Maladie de Madelung unilatérale Defomità di Madelung unilaterale Deformidad de Madelung unilateral Deformidade de Madelung, unilateral Déformation de Madelung unilatérale Madelung deformity, unilateral Madelung-Deformität, unilateral hrdo:pat_id_21057 neant Q74.0 295223 clinical subtype Maladie de Madelung bilatérale Deformidad de Madelung bilateral Deformidade de Madelung, bilateral Deformità di Madelung bilaterale Déformation de Madelung bilatérale Madelung deformity, bilateral Madelung-Deformität, bilateral hrdo:pat_id_21058 neant Q68.8 295225 clinical subtype Congenital elbow dislocation, unilateral Dislocación congénita unilateral del codo Dislocazione congenita unilaterale del gomito Ellenbogendislokation, kongenitale, unilaterale Luxation congénitale du coude, unilatérale Luxação congénita do cotovelo, unilateral hrdo:pat_id_21059 neant Q68.8 295227 clinical subtype Congenital elbow dislocation, bilateral Dislocación congénita bilateral del codo Dislocazione congenita bilaterale del gomito Ellenbogendislokation, kongenitale, bilaterale Luxation congénitale du coude, bilatérale Luxação congénita do cotovelo, bilateral hrdo:pat_id_21060 neant Q68.2 295229 clinical subtype Congenital genu recurvatum Genu recurvatum congenito Genu recurvatum congénital Genu recurvatum congénito Genu recurvatum congénito Genu recurvatum, kongenital hrdo:pat_id_21061 neant Q68.2 295232 clinical subtype Congenital genu flexum Genu flexum congenito Genu flexum congénital Genu flexum congénito Genu flexum congénito Genu flexum, kongenital hrdo:pat_id_21062 neant Q74.1 295234 clinical subtype Congenital patella dislocation, unilateral Dislocación congénita unilateral de la rótula Dislocazione congenita unilaterale della rotula Luxation de la rotule congénitale, unilatérale Luxação congénita da rótula, unilateral Patelladislokation, kongenitale, unilaterale hrdo:pat_id_21063 neant Q74.1 295237 clinical subtype Congenital patella dislocation, bilateral Dislocación congénita bilateral de la rótula Dislocazione congenita bilaterale della rotula Luxation de la rotule congénitale, bilatérale Luxação congénita da rótula, bilateral Patelladislokation, kongenitale, bilaterale hrdo:pat_id_21064 neant Q74.0 295239 clinical subtype Macrodactylie de la main, unilatérale Macrodactilia dos dedos da mão, unilateral Macrodactilia unilateral de los dedos de la mano Macrodactylie des doigts, unilatérale Macrodactyly of fingers, unilateral Macrodattilia unilaterale delle dita delle mani Makrodaktylie der Finger, unilateral hrdo:pat_id_21065 neant Q74.0 295241 clinical subtype Macrodactylie de la main, bilatérale Macrodactilia bilateral de los dedos de la mano Macrodactilia dos dedos da mão, bilateral Macrodactylie des doigts, bilatérale Macrodactyly of fingers, bilateral Macrodattilia bilaterale delle dita delle mani Makrodaktylie der Finger, bilateral hrdo:pat_id_21066 neant Q74.2 295243 clinical subtype Macrodactylie du pied, unilatéral Macrodactilia dos dedos do pé, unilateral Macrodactilia unilateral de los dedos del pie Macrodactylie des orteils, unilatéral Macrodactyly of toes, unilateral Macrodattilia unilaterale delle dita dei piedi Makrodaktylie der Zehen, unilateral hrdo:pat_id_21067 neant Q74.2 295245 clinical subtype Macrodactylie du pied, bilatéral Macrodactilia bilateral de los dedos del pie Macrodactilia dos dedos do pé, bilateral Macrodactylie des orteils, bilatéral Macrodactyly of toes, bilateral Macrodattilia bilaterale delle dita dei piedi Makrodaktylie der Zehen, bilateral hrdo:pat_id_2107 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 241090 2232 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Al Awad-Farag-Teebi, síndrome de Al Awadi-Farag-Teebi syndrome Sindrome di Al Awadi-Farag-Teebi Syndrome d'Al Awadi-Farag-Teebi Síndrome de Al Awad-Farag-Teebi Síndrome de Al Awadi-Farag-Teebi Hipogonadismo hipergonadotrópico primario - alopecia parcial Hipogonadismo primário - alopecia parcial Hypergonadotroper Hypogonadismus, primärer - partielle Alopezie Hypogonadisme hypergonadotrope primaire - alopécie partielle Ipogonadismo primitivo - alopecia parziale Primary hypergonadotropic hypogonadism - partial alopecia hrdo:pat_id_2108 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 307500 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Sohval%5B1au%5D+testicular+deficiency%5Btw%5D)+OR+(MALE+HYPOGONADISM+MENTAL+RETARDATION+Musculoskeletal+Abnormalities) Q87.8 2234 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome di Sohval-Soffer Sohval-Soffer syndrome Sohval-Soffer, síndrome de Sohval-Soffer-Syndrom Syndrome de Sohval-Soffer Síndrome de Sohval Soffer Síndrome de Sohval-Soffer Hipogonadismo hipergonadotrópico masculino - déficit intelectual - anomalías esqueléticas Hipogonadismo masculino - atraso mental - anomalias ósseas Hypogonadisme hypergonadotrope masculin - déficit intellectuel - anomalies squelettiques Hypogonadismus, männlicher - geistige Retardierung - Skelettanomalien Ipogonadismo ipergonadotropo maschile - ritardo mentale - anomalie scheletriche Male hypergonadotropic hypogonadism - intellectual deficit - skeletal anomalies hrdo:pat_id_21080 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 298644 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Anomalie du métabolisme et du transport de la thiamine Difetto del metabolismo e del trasporto della tiamina Disorder of thiamin metabolism and transport Thiamin metabolism disorder Thiamin metabolism disorder Trastorno del metabolismo y transporte de la tiamina hrdo:pat_id_2109 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Chang+RJ%5BAuthor%5D+hypogonadism+retinitis+pigmentosa 2235 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Chang-Davidson-Carlson syndrome Chang-Davidson-Carlson, síndrome de Chang-Davidson-Carlson-Syndrom Sindrome di Chang-Davidson-Carlson Syndrome de Chang-Davidson-Carlson Síndrome de Chang-Davidson-Carlson Hipogonadismo - retinite pigmentosa Hipogonadismo hipogonadotrópico - retinosis pigmentaria Hypogonadisme hypogonadotrope - rétinite pigmentaire Hypogonadotroper Hypogonadismus - Retinitis pigmentosa Hypogonadotropic hypogonadism - retinitis pigmentosa Ipogonadismo ipogonadotropo - retinite pigmentosa hrdo:pat_id_211 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 170400 613345 D020514 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=paralysis,+familial+periodic%5Bmajr%5D+AND+hypokalemia%5Bmh%5D G72.3 681 240093008 82732003 C0238358 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Doença de Westphall Maladie de Westphall Malattia di Westphall Westphall disease Westphall, doença de Westphall-Krankheit Hypokalemic periodic paralysis Paralisi periodica ipokaliemica Paralisia periódica hipocalémica Paralyse, hypokaliämische periodische Paralysie périodique hypokaliémique Parálisis periódica hipocalémica hrdo:pat_id_2110 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 146255 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Hypoparathyroidism+%28hearing+loss%5Bmajr%5D+OR+deafness%29+renal+disease Q87.8 2237 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Barakat syndrome Barakat, síndrome de HDR syndrome Sindrome HDR Sindrome di Barakat Syndrome HDR Syndrome de Barakat Síndrome HDR Síndrome de Barakat Síndrome de Barakat Hipoparatiroidismo - sordera - enfermedad renal Hipoparatiroidismo - surdez - nefropatia (HDR) Hypoparathyreoidismus - Schwerhörigkeit - Nierenanomalien (HDR) Hypoparathyroidism - deafness - renal disease Hypoparathyroïdie - surdité - dysplasie rénale Ipoparatiroidismo - sordità - malattia renale hrdo:pat_id_21100 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614557 neant Q79.6 300179 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 EDS con cifoescoliosis progresiva, miopatía y pérdida de audición EDS con cifoescoliosis progresiva, miopatía y sordera EDS con cifoscoliosi, miopatia e perdita dell'udito di tipo progressivo EDS con cifoscoliosi, miopatia e sordità di tipo progressivo EDS mit progressiver Kyphoskoliose, Myopathie und Hörverlust EDS type cyphoscoliotique avec surdité EDS with progressive kyphoscoliosis, myopathy, and deafness EDS with progressive kyphoscoliosis, myopathy, and hearing loss EDS, kyphoscoliotic and hearing loss type EDS, kyphoskoliotischer Typ mit Hörverlust EDS, tipo cifoescoliótico y pérdida de audición EDS, tipo cifoscoliotico e sordità Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type SED type cyphoscoliotique avec surdité Sindrome di Ehlers-Danlos con cifoscoliosi, miopatia e perdita dell'udito di tipo progressivo Sindrome di Ehlers-Danlos con cifoscoliosi, miopatia e sordità di tipo progressivo Sindrome di Ehlers-Danlos, tipo cifoscoliotico e pedita dell'udito Syndrome d'Ehlers Danlos avec cyphoscoliose, myopathie et surdité Síndrome de Ehlers-Danlos con cifoescoliosis progresiva, miopatía y pérdida de audición Síndrome de Ehlers-Danlos con cifoescoliosis progresiva, miopatía y sordera Síndrome de Ehlers-Danlos, tipo cifoescoliótico y pérdida de audición Ehlers-Danlos syndrome, kyphoscoliotic and deafness type Ehlers-Danlos syndrome, kyphoscoliotic and deafness type Ehlers-Danlos-Syndrom, kyphoskoliotischer Typ mit Schwerhörigkeit Sindrome di Ehlers-Danlos, tipo cifoscoliotico e sordità Syndrome d'Ehlers-Danlos type cyphoscoliotique avec surdité Síndrome de Ehlers-Danlos, tipo cifoescoliótico y sordera hrdo:pat_id_21104 612394 neant 300284 disease Bindegewebskrankheit durch LH3-Mangel Bone fragility-contractures-arterial rupture-deafness syndrome Connective tissue disorder due to LH3 deficiency Enfermedad del tejido conectivo por deficiencia de LH3 Enfermedad del tejido conectivo por deficiencia de lisil hidroxilasa-3 Enfermedad del tejido conectivo por déficit de LH3 Knochenfragilität-Kontrakturen-Arterienruptur-Schwerhörigkeit-Syndrom Maladie du tissu conjonctif par déficit en LH3 Malattia del tessuto connettivo da deficit di LH3 Sindrome fragilità ossea-contratture-rottura arteriosa-sordità Syndrome de fragilité osseuse-contractures-rupture artérielle-surdité Síndrome de fragilidad ósea - contracturas - ruptura arterial - sordera Bindegewebskrankheit durch Lysyl-Hydroxylase 3-Mangel Connective tissue disorder due to lysyl hydroxylase-3 deficiency Connective tissue disorder due to lysyl hydroxylase-3 deficiency Enfermedad del tejido conectivo por déficit de lisil hidroxilasa-3 Maladie du tissu conjonctif par déficit en lysyl hydroxylase-3 Malattia del tessuto connettivo da deficit di lisil idrossilasi-3 hrdo:pat_id_21105 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614480 neant 300293 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hipertrigliceridemia e hígado graso infantil regresivo Hypertriglyceridämie, infantile regressive - Fettleber Infantile regressive hypertriglyceridemia and fatty liver Ipertrigliceridemia regressiva infantile e fegato grasso Hipertrigliceridemia y hepatoesteatosis infantil regresiva Hypertriglycéridémie regressive du nourisson et stéatose hépatique Infantile regressive Hypertriglyceridämie und Hepatosteatose Infantile regressive hypertriglyceridemia and hepatosteatosis Infantile regressive hypertriglyceridemia and hepatosteatosis Ipertrigliceridemia regressiva infantile ed epatosteatosi hrdo:pat_id_21106 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant D64.0 300298 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anemia sideroblastica ipocromica congenita grave Anemia sideroblástica hipocrómica congénita grave con sideroblastos en anillo Anémie hypochrome congénitale sévère avec sidéroblastes en anneau Anémie sidéroblastique hypochrome congénitale sévère Hypochrome Anämie mit beringten Sideroblasten, schwere kongenitale Form Severe congenital hypochromic sideroblastic anemia Anemia congénita hipocrómica grave con sideroblastos en anillo Anemia ipocromica congenita grave con sideroblasti ad anello Anémie hypochrome congénitale sévère avec sidéroblastes en couronne Schwere kongenitale hypochrome Anämie mit beringten Sideroblasten Severe congenital hypochromic anemia with ringed sideroblasts Severe congenital hypochromic anemia with ringed sideroblasts hrdo:pat_id_21107 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q92.3 300305 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dup(11)p(15.4) Dup(11)p(15.4) Dup(11)p(15.4) Dup(11)p(15.4) Dup(11)p(15.4) Trisomia 11p15.4 Trisomie 11p15.4 Trisomie 11p15.4 Trisomía 11p15.4 trisomy 11p15.4 11p15.4 microduplication syndrome 11p15.4 microduplication syndrome Mikroduplikationssyndrom 11p15.4 Sindrome da microduplicazione 11p15.4 Syndrome de microduplication 11p15.4 Síndrome de microduplicación 11p15.4 hrdo:pat_id_21109 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614482 neant 300313 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Congenital cataract-deafness-severe developmental delay syndrome Enfermedad neurodegenerativa letal por un defecto de transporte del cobre Letale neurodegenerative Krankheit durch Kupfer-Transport-Defekt Lethal neurodegenerative disorder due to copper transport defect Malattia neurodegenerativa letale da difetto del trasporto del rame Neurodégénerescence létale par deficit du transport du cuivre Sindrome cataratta-sordità-grave ritardo dello sviluppo, congenita Síndrome de cataratas congénitas - sordera - retraso grave del desarrollo Congenital cataract-hearing loss-severe developmental delay syndrome Congenital cataract-hearing loss-severe developmental delay syndrome Kongenitale Katarakt-Schwerhörigkeit-Entwicklungsverzögerung-Syndrom Sindrome cataratta-perdita dell'udito-grave ritardo dello sviluppo, congenita Syndrome de cataracte congénitale-surdité-retard de développement sévère Síndrome de cataratas congénitas - pérdida de audición - retraso grave del desarrollo hrdo:pat_id_2111 Variabel Variabile Variable Variable Variable Variable Variável 146200 307700 C537156 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Hypoparathyroidism+AND+isolated%5Bti%5D E20.8 Q89.2 2238 C1832648 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Familial isolated hypoparathyroidism Hipoparatiroidismo familiar aislado Hipoparatiroidismo familiar isolado Hypoparathyreoidismus, familiärer isolierter Hypoparathyroïdie isolée familiale Ipoparatiroidismo familiare isolato hrdo:pat_id_21110 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 614436 neant G60.0 300319 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CMT2P CMT2P CMT2P CMT2P CMT2P Charcot-Marie-Tooth-Krankheit Typ 2P Autosomal dominant Charcot-Marie-Tooth disease type 2P Autosomal dominant Charcot-Marie-Tooth disease type 2P Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2P Enfermedad de Charcot-Marie-Tooth autosómica dominante tipo 2P Maladie de Charcot-Marie-Tooth autosomique dominante type 2P Malattia di Charcot-Marie-Tooth autosomica dominante, tipo 2P hrdo:pat_id_21111 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis 606445 neant 300324 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hyperlymphocytose B polyclonale persistante LBPP LPLB Linfocitosi B policlonale persistente con linfociti binucleati Linfocitosis policlonal de células B persistente con linfocitos binucleados Lymphocytose B polyclonale persistante à lymphocytes binucléés PPBL PPBL PPBL PPBL PPBL Persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes Persistente polyklonale B-Zell Lymphozytose mit binukleären Lymphozyten B-Zell Lymphozytose, persistente polyklonale Linfocitosi B policlonale persistente Linfocitosis policlonal de células B persistente Lymphocytose B polyclonale persistante Persistent polyclonal B-cell lymphocytosis Persistent polyclonal B-cell lymphocytosis hrdo:pat_id_21112 609057 neant 300333 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome Sindrome nefrosica-perdita dell'udito-epidermolisi bollos pretibiale Síndrome nefrótico - pérdida de audición - síndrome epidermólisis ampollosa pretibial Síndrome nefrótico - pérdida de audición - síndrome epidermólisis bullosa pretibial Síndrome nefrótico - sordera - síndrome epidermólisis bullosa pretibial Nephritis-deafness-pretibial epidermolysis bullosa syndrome Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome Nephrotisches Syndrom-Schwerhörigkeit-prätibiales Epidermolysis bullosa-Syndrom Sindrome nefrosica-sordità-epidermolisi bollosa pretibiale Syndrome néphrotique-surdité-épidermolyse bulleuse prétibiale Síndrome nefrótico - sordera - síndrome epidermólisis ampollosa pretibial hrdo:pat_id_21113 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 221900 neant H33.2 300337 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Angeborene Blindheit durch Nicht-Anheftung der Netzhaut Congenital retinal detachment Cécité congénitale par défaut d'attachement de la rétine Desprendimiento de retina congénito Distacco retinico congenito Distacco retinico congenito non sindromico Décollement congenital de la rétine Enfermedad NCRNA Falta de adhesión de la retina congénita no sindrómica Malattia NCRNA NCRNA disease NCRNA-Krankheit Netzhautablösung, kongenitale Non syndromic congenital retinal nonattachment 'Blindheit, kongenitale, durch retinales ''non-attachment''' Cecità congenita da distacco della retina Ceguera congénita por falta de adhesión de la retina Congenital blindness due to retinal nonattachment Congenital blindness due to retinal nonattachment Cécité congénitale par non attachement de la rétine hrdo:pat_id_21114 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 614420 neant M32.8 300345 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Autosomal recessive SLE Familial SLE Familial systemic lupus erythematosus LES autosomique récessif LES familial Lupus eritematoso sistemico familiare Lupus eritematoso sistémico familiar Lupus erythematodes, systemischer, familiäre Form Lupus systémique autosomique récessif Lupus systémique familial Lupus érythémateux systémique familial SLE autosomico recessivo SLE autosomique récessif SLE autosómico recesivo SLE familial SLE familiar SLE familiare SLE, autosomal-rezessiver SLE, familiärer Autosomal recessive systemic lupus erythematosus Autosomal recessive systemic lupus erythematosus Lupus eritematoso sistemico autosomico recessivo Lupus eritematoso sistémico autosómico recesivo Lupus erythematodes, systemischer, autosomal-rezessiver Lupus érythémateux systémique autosomique récessif hrdo:pat_id_21115 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614468 neant L50.2 300359 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Autoinflammatorisches Syndrom, atypisches kälteinduziertes, familiäre Form Deficiencia de anticuerpos asociada a PLCG2 y desregulación inmune FACU FACU FACU FACU FACU FCAS atipica FCAS, atypisch Familial atypical cold urticaria Familial cold urticaria with common variable immunodeficiency Kälte-Urtikaria, familiäre, mit variablem Immundefektsyndrom Orticaria familiare da freddo con immunodeficienza comune variabile PLAID PLAID PLAID Sindrome autoinfiammatoria atipica familiare da freddo Urticaire familial au froid atypique Urticaire familial au froid avec déficit immunitaire commun variable Urticaria familiar por frío atípica Urticaria familiar por frío con inmunodeficiencia variable común Déficit de anticuerpos asociado a PLCG2 y desregulación inmune Dérèglement et déficit immunitaire lié à PLCG2 Familial atypical cold urticaria Kälte-Urtikaria, familiäre, atypische Form Orticaria atipica familiare da freddo PLCG2-associated antibody deficiency and immune dysregulation hrdo:pat_id_21116 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300373 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Gigantisme infantile héréditaire Gigantisme infantile par hyperplasie hypophysaire Gigantismo infantil hereditario Gigantismo infantil por hiperplasia hipofisaria Gigantismo infantile da iperplasia ipofisaria Gigantismo infantile ereditario Gigantismus, infantiler hereditärer Gigantismus, infantiler, durch Hypophysenhyperplasie Hereditary infantile gigantism Hereditary pituitary hyperplasia Hiperplasia hipofisaria hereditaria Hyperplasie der Hypophyse, hereditäre Hyperplasie hypophysaire héréditaire Infantile gigantism due to pituitary hyperplasia Iperplasia ipofisaria ereditaria Familial infantile gigantism Familial infantile gigantism Gigantisme infantile familial Gigantismo infantil familiar Gigantismo infantile familiare Gigantismus, infantiler, familiäre Form hrdo:pat_id_21117 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300382 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Marfan-Syndrom mit neonataler progeroid-Syndrom ähnlicher Lipodystrophie Progeroid and marfanoid aspect-lipodystrophy syndrome Progeroid and marfanoid aspect-lipodystrophy syndrome Sindrome con aspetto progeroide e marfanoide-lipodistrofia Syndrome d'apparence progéroïde et marfanoïde-lipodystrophie Síndrome de aspecto progeroide y marfanoide - lipodistrofia hrdo:pat_id_21118 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável neant C75.1 300385 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Carcinome pituitaire Carcinoma hipofisario Carcinoma ipofisario Carcinome hypophysaire Hypophysenkarzinom Pituitary carcinoma Pituitary carcinoma hrdo:pat_id_21119 Variabel Variabile Variable Variable Variable Variable Variável 300493 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel particular clinical situation in a disease or syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sagliker syndrome Sagliker syndrome Sagliker-Syndrom Sindrome di Sagliker Syndrome de Sagliker Síndrome de Sagliker hrdo:pat_id_2112 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 307700 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28hypoparathyroidism%5Bti%5D+OR+hypoparathyroidism%5Bmh%5D%29+X+Linked%5Btw%5D E20.8 2239 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland Hipoparatiroidismo familiar aislado debido a agenesia de la glándula paratiroidea Hipoparatiroidismo ligado ao X Hypoparathyreoidismus, familiärer isolierter, bei Agenesie der Nebenschilddrüsen Hypoparathyroïdie isolée familiale due à l'agénésie de la glande parathyroïde Ipoparatiroidismo isolato familiare da agenesia delle paratiroidi hrdo:pat_id_21120 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300868 neant Q87.8 300496 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 MCAHS Typ 2 MCAHS tipo 2 MCAHS type 2 MCAHS type 2 MCAHS, tipo 2 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 Multiple kongenitale Anomalien-Hypotonie-Krampfanfälle-Syndrom Typ 2 Sindrome con anomalie congenite multiple-ipotonia-convulsioni, tipo 2 Syndrome d'anomalies congénitales multiples-hypotonie-épilepsie Síndrome de anomalías congénitas múltiples - hipotonía - convulsiones tipo 2 hrdo:pat_id_21121 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 300501 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Painful orbital and systemic neurofibromas-marfanoid habitus syndrome Painful orbital and systemic neurofibromas-marfanoid habitus syndrome Schmerzhafte orbitale und systemische Neurofibrome - marfanoider Habitus Sindrome con neurofibromi sistemici e orbitali dolorosi-habitus marfanoide Syndrome marfanoïde-neurofibromes systémiques et orbitaux douloureux Síndrome de dolor orbital y neurofibromas sistémicos - hábito marfanoide hrdo:pat_id_21122 300504 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acanthoma of the nail matrix Acanthome de la matrice des ongles Acanthome de la matrice unguéale Acantoma de la matriz ungueal Acantoma della matrice ungueale Akanthom der Nagelmatrix Matricoma onicocitico Matricoma onicocítico Matricome onychocytique Onychocytic matricoma Onychocytic matricoma Onychozytisches Matrikom hrdo:pat_id_21123 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 300512 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Onicomatricoma Onicomatricoma Onychomatricoma Onychomatricoma Onychomatricome Onychomatrikom hrdo:pat_id_21124 300515 group of phenomes Tumeur unguéale rare Nageltumor, seltener Rare nail tumor Rare nail tumor Tumeur rare des ongles Tumor raro de las uñas Tumore raro delle unghie hrdo:pat_id_21125 614495 neant I15.1 300525 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate etiological subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 PHA2D PHA2D PHA2D PHA2D PHA2D Pseudohipoaldosteronismo tipo 2D Pseudohypoaldosteronism type 2D Pseudohypoaldosteronism type 2D Pseudohypoaldosteronismus Typ 2D Pseudohypoaldostéronisme type 2D Pseudoipoaldosteronismo, tipo 2D hrdo:pat_id_21126 614496 neant I15.1 300530 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate etiological subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 PHA2E PHA2E PHA2E PHA2E PHA2E Pseudohipoaldosteronismo tipo 2E Pseudohypoaldosteronism type 2E Pseudohypoaldosteronism type 2E Pseudohypoaldosteronismus Typ 2E Pseudohypoaldostéronisme type 2E Pseudoipoaldosteronismo, tipo 2E hrdo:pat_id_21127 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614507 neant E77.8 300536 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anomalie congénitale de la glycosylation type 1R Anomalie congénitale de la glycosylation type IR CDG (Congenital Disorder of Glycosylation) Typ 1R CDG syndrome type IR CDG-Ir CDG-Ir CDG-Ir CDG-Ir CDG1R CDG1R CDG1R CDG1R CDG1R Carbohydrate deficient glycoprotein syndrome type IR Congenital disorder of glycosylation type 1R Congenital disorder of glycosylation type IR Disturbo congenito della glicosilazione, tipo 1R Disturbo congenito della glicosilazione, tipo IR Kohlenhydrat-defizientes Glykoprotein-Syndrom Typ IR Kongenitaler Defekt der Glycoproteinbiosynthese Typ IR Sindrome CDG, tipo IR Sindrome delle glicoproteine carenti in carboidrati, tipo IR Syndrome CDG type IR Syndrome des glycoprotéines déficientes en hydrates de carbone type IR Síndrome CDG tipo IR Síndrome de glicoproteínas deficientes en carbohidratos tipo IR Trastorno congénito de la glicosilación tipo 1R Trastorno congénito de la glicosilación tipo IR CDG syndrome type IR CDG-Syndrom Typ IR DDOST-CDG syndrome Sindrome DDOST-CDG Syndrome DDOST-CDG Síndrome DDOST-CDG hrdo:pat_id_21128 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 143880 neant 300547 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Familial infantile hypercalcemia with suppressed intact parathyroid hormone Familiäre infantile Hyperkalzämie mit supprimiertem intakten Parathyroidhormon Hipercalcemia infantil familiar con supresión de la hormona paratiroidea intacta Hypercalcémie infantile familiale avec diminution de PTHi Hypercalcémie infantile familiale avec diminution de parathormone intacte Ipercalcemia infantile familiare con diminuzione dell'ormone paratiroideo intatto Autosomal recessive infantile hypercalcemia Autosomal recessive infantile hypercalcemia Hipercalcemia infantil autosómica recesiva Hypercalcémie infantile autosomique recessive Hyperkalzämie, infantile, autosomal-rezessive Ipercalcemia infantile autosomica recessiva hrdo:pat_id_21129 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 300552 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Follicular pancreatocholangitis Pancreatocolangite follicolare Pancreatocolangitis folicular Pancréato-cholangite folliculaire Pankreatocholangitis, follikuläre Cholangitis und Pankreatitis, follikuläre Colangite follicare e pancreatite Colangitis folicular y pancreatitis Follicular cholangitis and pancreatitis Follicular cholangitis and pancreatitis Pancréatite et cholangite folliculaire hrdo:pat_id_2113 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 249210 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Megacystis+microcolon+intestinal+hypoperistalsis+OR+Mmihs%5Btw%5D+OR+Berdon+Syndrome%5Btw%5D Q43.8 2241 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Berdon syndrome Berdon, síndrome de Berdon-Syndrom MMIHS MMIHS Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome Sindrome di Berdon Sindrome megacisti-microcolon-ipoperistalsi intestinale-idronefrosi Syndrome d'Hypopéristaltisme intestinal-mégavessie-microcôlon-hydronéphrose Syndrome de Berdon Síndrome de Berdon Síndrome de Berdon Síndrome de megavejiga - microcolon - hipoperistaltismo intestinal - hidronefrosis Megacistis - microcólon - hipoperistaltismo intestinal - hidronefrose Megacystis-microcolon-intestinal hypoperistalsis syndrome Megazystis - Mikrokolon - intestinale Hypoperistaltik - Hydronephrose Sindrome megacisti-microcolon-ipoperistalsi intestinale Syndrome d'Hypopéristaltisme intestinal-microcôlon-mégavessie Síndrome de megavejiga - microcolon - hipoperistaltismo intestinal hrdo:pat_id_21130 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant C24.1 300557 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Ampullary carcinoma Ampullom Ampulloma Ampulloma Ampullome Ampullome vatérien Ampuloma Carcinoma ampollare Carcinoma ampular Carcinoma de la ampolla de Vater Carcinoma dell'ampolla di Vater Carcinoma of the ampulla of Vater Carcinoma of the ampulla of Vater Carcinome de l'ampoule de Vater Karzinom der Ampulla Vateri hrdo:pat_id_21131 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant J84.1 300564 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CPFE CPFE CPFE CPFE CPFE Syndrome d'emphysème des sommets-fibrose pulmonaire des bases combinés Combined pulmonary fibrosis-emphysema syndrome Combined pulmonary fibrosis-emphysema syndrome Kombiniertes pulmonales fibrosierendes Emphysem-Syndrom Sindrome da fibrosi-enfisema polmonare combinati Syndrome d'emphysème-fibrose pulmonaire combinés Síndrome combinado enfisema-fibrosis pulmonar hrdo:pat_id_21132 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614039 neant Q04.3 300570 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation Disgenesia cortical con hipoplasia pontocerebelosa por mutación en TUBB3 Disgenesia corticale con ipoplasia pontocerebellare da mutazione in TUBB3 Dysgénésie corticale avec hypoplasia pontocérébelleuse due à une mutation TUBB3 Kortikale Dysgenese mit pontozerebelläre Hypoplasie durch TUBB3-Genmutation hrdo:pat_id_21133 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 610031 neant Q04.3 300573 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Polimicrogiria da mutazione TUBB2B Polimicrogiria por mutación en TUBB2B Polymicrogyria due to TUBB2B mutation Polymicrogyria due to TUBB2B mutation Polymicrogyrie due à une mutation TUBB2B Polymicrogyrie durch TUBB2B-Genmutation hrdo:pat_id_21134 608615 neant 300576 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Autosomal dominant ectodermal dysplasia-cancer predisposition syndrome syndrome Displasia ectodermica autosomica dominante - sindroma da predisposizione al cancro Displasia ectodérmica autosómica dominante - síndrome de predisposición al cáncer Dysplasie ectodermique autosomique dominante - prédisposition au cancer Ektodermales Dysplasie-Krebs-Prädispositionssyndrom, autosomal-dominantes Autosomal dominant ectodermal dysplasia-neoplastic syndrome Oligodoncia - síndrome de predisposición al cáncer Oligodontia - cancer predisposition syndrome Oligodontia - sindrome da predisposizione al cancro Oligodontie - syndrome de prédisposition au cancer Oligodontie-Krebs-Prädispositionssyndrom hrdo:pat_id_21135 Variabel Variabile Variable Variable Variable Variable Variável neant A49.0 300579 group of phenomes Enfermedad estafilocócica mediada por toxina Infection toxinique à staphylocoques Malattia stafilococcica tossino-mediata Staphylococcus-bedingte Infektionen Toxin-mediated staphylococcal disease Toxémie staphylococcique Toxémie à staphylocoques Infection toxinique staphylococcique Staphylococcal toxemia Staphylococcal toxemia Staphylokokken-bedingte Toxämie Tossiemia da Stafilococco Toxemia estafilocócica hrdo:pat_id_21136 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant G12.2 300601 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown ALS2-abhängige Motoneuronkrankheit ALS2-related motoneuron disease ALS2-related motor neuron disease Enfermedad de la motoneurona relacionada con ALS2 Maladie du motoneurone associé à ALS2 Malattia dei motoneuroni associata ad ALS2 hrdo:pat_id_21137 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 205100 602099 602433 614373 neant G12.2 300605 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Charcot-Krankheit, juvenile Enfermedad de Charcot juvenil Enfermedad de Lou-Gehrig juvenil JALS JALS JALS JALS JALS Juvenile Charcot disease Juvenile Lou-Gehrig disease Lou-Gehrig-Krankheit, juvenile Maladie de Charcot juvénile Maladie de Lou Gehrig juvénile Malattia di Charcot giovanile Malattia di Lou-Gehrig giovanile SLAJ Amyotrophe Lateralsklerose, juvenile Esclerosis lateral amiotrófica juvenil Juvenile Amyotrophic lateral sclerosis Juvenile amyotrophic lateral sclerosis Sclerosi laterale amiotrofica giovanile Sclérose latérale amyotrophique juvénile hrdo:pat_id_21138 115200 neant 300751 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cardiomiopatia dilatativa familiare con difetto di conduzione da mutazione nella LMNA Cardiomyopathie dilatée familiale avec trouble de la conduction due à une mutation LMNA Familial dilated cardiomyopathy with conduction defect due to LMNA mutation Familial dilated cardiomyopathy with conduction defect due to LMNA mutation Familiäre dilatative Kardiomyopathie mit Reizleitungs-Defekt durch LMNA-Genmutation Miocardiopatía dilatada familiar con defectos de la conducción por mutación en LMNA hrdo:pat_id_21139 300755 group of phenomes Laminopathie avec atteinte des muscles striés Laminopathie mit Beteiligung der quergestreiften Muskulatur Laminopathy with striated muscle involvment Laminopathy with striated muscle involvment Laminopatia con coinvolgimento dei muscoli striati Laminopatía con afectación del músculo estriado hrdo:pat_id_21140 300758 group of phenomes Laminopathie avec neuropathie périphérique Laminopathie mit peripherer Neuropathie Laminopathy with peripheral neuropathy Laminopathy with peripheral neuropathy Laminopatia con neuropatia periferica Laminopatía con neuropatía periférica hrdo:pat_id_21141 300763 group of phenomes Laminopathie avec lipodystrophie Laminopathie mit Lipodystrophie Laminopathy with lipodystrophy Laminopathy with lipodystrophy Laminopatia con lipodistrofia Laminopatía con lipodistrofia hrdo:pat_id_21142 300766 group of phenomes Laminopathie avec vieillissement prématuré Laminopathie mit vorzeitiger Alterung Laminopathy with premature ageing Laminopathy with premature ageing Laminopatia con invecchiamento precoce Laminopatía con envejecimiento prematuro hrdo:pat_id_21143 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 300842 group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Indolent B-cell NHL Indolentes B-Zell NHL LMNH-B d'évolution indolente Lymphome non hodgkinien à cellules B d'évolution indolente NHL B indolente NHL de células B indolente B-Zell-Non-Hodgkin-Lymphom, indolentes Indolent B-cell non-Hodgkin lymphoma Indolent B-cell non-Hodgkin lymphoma Linfoma no Hodgkin de células B indolente Linfoma non-Hodgkin B indolente Lymphome B non hodgkinien d'évolution indolente hrdo:pat_id_21144 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 300846 group of phenomes Aggressive B-cell NHL Aggressives B-Zell NHL LMNH-B d'évolution agressive LNH de células B agresivo Lymphome non hodgkinien à cellules B d'évolution agressive NHL B aggressivo NHL de células B agresivo Aggressive B-cell non-Hodgkin lymphoma Aggressive B-cell non-Hodgkin lymphoma B-Zell-Non-Hodgkin-Lymphom, aggressives Linfoma no Hodgkin de células B agresivo Linfoma non-Hodgkin B aggressivo Lymphome B non hodgkinien d'évolution agressive hrdo:pat_id_21145 neant C83.3 300849 disease DLBCL del CNS DLBCL du CNS DLBCL du SNC DLBCL of the CNS LDCBG del SNC Lymphome diffus à grandes cellules B du CNS Lymphome diffus à grandes cellules B du SNC Primäres DLBCL des Zentralnervensystems Diffuse large B-cell lymphoma of the central nervous system Diffuse large B-cell lymphoma of the central nervous system Diffuses großzelliges B-Zell-Lymphom des ZNS Linfoma diffuso del sistema nervoso centrale a grandi cellule B Linfoma difuso de células B grandes del sistema nervioso central Lymphome diffus à grandes cellules B du systéme nerveux central hrdo:pat_id_21146 neant C83.3 300857 disease THRLBCL THRLBCL THRLBCL THRLBCL THRLBCL Linfoma a grandi cellule B ricco in istiociti/cellule T Linfoma de células B rico en células -T / histiocitos Lymphome à grandes cellules B riche en cellules T/histiocytes T-Zell/histiozytenreiches großzelliges B-Zell-Lymphom T-cell/histiocyte rich large B cell lymphoma T-cell/histiocyte rich large B cell lymphoma hrdo:pat_id_21147 neant C86.6 300865 disease C-ALCL C-ALCL C-ALCL C-ALCL C-ALCL Linfoma anaplastico cutaneo primitivo a grandi cellule Linfoma cutáneo primario anaplásico de células grandes Lymphome cutané primitif anaplasique à grandes cellules Primary cutaneous anaplastic large cell lymphoma Primary cutaneous anaplastic large cell lymphoma Primäres kutanes anaplastisches großzelliges Lymphom hrdo:pat_id_21148 300869 disease Linfoma B esplénico difuso de la pulpa roja Linfoma B splenico diffuso della polpa rossa SDRPL SDRPL SDRPL SDRPL SDRPL Splenic diffuse red pulp B-cell lymphoma Splenisches diffuses kleinzelliges B-Zell-Lymphom der roten Pulpa B-Zell-Lymphom der roten Pulpa, diffuses splenisches Linfoma esplénico difuso de la pulpa roja Linfoma splenico diffuso della polpa rossa Lymphome splénique diffus de la pulpe rouge Splenic diffuse red pulp lymphoma Splenic diffuse red pulp lymphoma hrdo:pat_id_21149 neant C91.4 300878 disease HCL variant prolymphocytique HCL-v HCL-v HCL-v HCL-v HCL-v Haarzellenleukämi, prolymphozytäre Variante Leucémie à tricholeucocytes, variant prolymphocytique Leukemic Reticuloendotheliosis variant Prolymphocytic variant of HCL Prolymphocytic variant of hairy cell leukemia Prolymphozytäre Variante der HCL Retikuloendotheliose, leukämische, Variante Variante de la reticuloendoteliosis leucémica Variante della reticoloendoteliosi leucemica Variante prolinfocitica della HCL Variante prolinfocitica della leucemia a cellule capellute Variante prolinfocítica de la HCL Variante prolinfocítica de la leucemia de células pilosas Haarzellleukämievariante Hairy cell leukemia variant Hairy cell leukemia variant Leucémie à tricholeucocytes variante Variante de la leucemia de células pilosas Variante della leucemia a cellule capellute hrdo:pat_id_2115 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Hypopituitarism+%28penis/ab+OR+micropenis%29+%28cleft+lip+OR+cleft+palate%29 E23.0 2243 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hipopituitarismo - micropene - fisura labiopalatina Hipopituitarismo - micropénis - fenda lábio-palatina Hypopituitarism - micropenis - cleft lip/palate Hypopituitarisme - micropénis - fente labiopalatine Hypopituitarismus - Mikropenis - Lippen-Kiefer-Gaumenspalte Ipopituitarismo - micropene - labiopalatoschisi hrdo:pat_id_21150 neant C83.3 300888 disease DLBCL avec inflammation chronique DLBCL bei chronischer Entzündung DLBCL con infiammazione cronica DLBCL con inflamación crónica DLBCL with chronic inflammation LDCBG con inflamación crónica B-Zell-Lymphom, diffuses großzelliges, mit chronischer Entzündung Diffuse large B-cell lymphoma with chronic inflammation Diffuse large B-cell lymphoma with chronic inflammation Linfoma diffuso a grandi cellule B con infiammazione cronica Linfoma difuso de células B grandes con inflamación crónica Lymphome diffus à grandes cellules B avec inflammation chronique hrdo:pat_id_21151 neant C83.3 300895 histopathological subtype ALCL ALK+ ALK+ ALCL ALK+ ALCL ALK+ ALCL ALK+ ALCL ALK+ anaplastic large cell lymphoma ALK+ anaplastisches großzelliges Lymphom LAGC ALK+ Linfoma anaplastico a grandi cellule ALK+ Linfoma anaplásico de células grandes ALK+ Lymphome anaplasique à grandes cellules ALK+ ALK-positive anaplastic large cell lymphoma ALK-positive anaplastic large cell lymphoma Linfoma anaplastico a grandi cellule ALK-positivo Linfoma anaplásico de células grandes ALK-positivo Lymphom, anaplastisches großzelliges, ALK-positives Lymphome anaplasique à grandes cellules ALK positif hrdo:pat_id_21152 neant C83.3 300903 histopathological subtype ALCL ALK- ALK- ALCL ALK- ALCL ALK- ALCL ALK- anaplastic large cell lymphoma ALK-ALCL ALK-anaplastisches großzelliges Lymphom LAGC ALK- Linfoma anaplastico a grandi cellule ALK- Linfoma anaplásico de células grandes ALK- Lymphome anaplasique à grandes cellules ALK- ALK-negative anaplastic large cell lymphoma ALK-negative anaplastic large cell lymphoma Linfoma anaplastico a grandi cellule ALK-negativo Linfoma anaplásico de células grandes ALK-negativo Lymphom, anaplastisches großzelliges, ALK-negatives Lymphome anaplasique à grandes cellules ALK négatif hrdo:pat_id_21153 300912 group of phenomes Linfoma de la zona marginal Linfoma della zona marginale Lymphome de la zone marginale Marginal zone lymphoma Marginal zone lymphoma Marginalzonenlymphom hrdo:pat_id_2116 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Hypopituitarism%5Bmh%5D+postaxial+polydactyly E23.0 2245 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Culler-Jones syndrome Culler-Jones, síndrome de Culler-Jones-Syndrom Sindrome di Culler-Jones Syndrome de Culler-Jones Síndrome de Culler-Jones Síndrome de Culler-Jones Hipopituitarismo - polidactilia postaxial Hipopituitarismo - polidactilia pós-axial Hypopituitarism - postaxial polydactyly Hypopituitarisme - polydactylie post-axiale Hypopituitarismus - postaxiale Polydaktylie Ipopituitarismo - polidattilia postassiale hrdo:pat_id_2117 213000 neant Q04.3 2246 malformation syndrome Cerebellar hypoplasia - tapetoretinal degeneration Hipoplasia cerebelosa - degeneración tapetoretiniana Hipoplasia cerebelosa - degenerescência tapetorretiniana Hypoplasie cérébelleuse - dégénérescence tapétorétinienne Ipoplasia cerebellare - degenerazione tapeto-retinica Zerebelläre Hypoplasie - tapetoretinale Degeneration hrdo:pat_id_21184 304055 group of phenomes Tumeur pituitaire Hypophysentumor Pituitary tumor Pituitary tumor Tumeur de l'hypophyse Tumor de la hipófisis Tumore ipofisario hrdo:pat_id_2119 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 276821 C536934 neant Q87.2 2249 C2931370 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hipoplasia de cúbito - déficit intelectual Hipoplasia do cúbito - atraso mental Hypoplasie du cubitus - déficit intellectuel Ipoplasia cubitale - ritardo mentale Ulna hypoplasia - intellectual deficit Ulnahypoplasie - geistige Retardierung hrdo:pat_id_212 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 170500 C535409 D020513 G72.3 682 278513006 304737009 C0238357 C2930895 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Adinamia episodica di Gamstorp Adinamia episodica ereditaria Adinamia episódica de Gamstorp Adinamia episódica de Gamstorp Adinamia episódica hereditaria Adynamia epidodica hereditaria Adynamie épisodique de Gamstorp Adynamie épisodique héréditaire Enfermedad de Gamstorp Familial HyperPP Familial hyperkalemic periodic paralysis Gamstorp disease Gamstorp episodic adynamy Gamstorp-Syndrom HYPP HYPP HYPP HYPP HiperKPP HiperPP HiperPP familiar HiperPP primaria HyperKPP HyperPP HyperPP Hyperkalemic PP IperKPP IperPP IperPP familiare IperPP primitiva Maladie de Gamstorp Malattia di Gamstorp PP hipercalémica PP iperkaliemica PPHyperK Paralisi periodica iperkaliemica familiare Paralisi periodica iperkaliemica primitiva Parálisis hipercalémica periódica familiar Parálisis periódica hipercalémica primaria Primary hyperPP Primary hyperkalemic periodic paralysis Hyperkalemic periodic paralysis Paralisi periodica iperkaliemica Paralisia periódica hipercaliémica Paralyse, hyperkalämische periodische Paralysie périodique hyperkaliémique Parálisis periódica hipercalémica hrdo:pat_id_2120 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 603457 neant 2250 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Bosma-Henkin-Christiansen syndrome Bosma-Henkin-Christiansen, síndrome de Bosma-Henkin-Christiansen-Syndrom Sindrome di Bosma-Henkin-Christiansen Syndrome de Bosma-Henkin-Christiansen Síndrome de Bosma-Henkin-Christiansen Hiposmia - hipoplasia nasal - hipogonadismo Hiposmia - hipoplasia nasal y ocular - hipogonadismo hipogonadotrópico Hypoplasie nasale et oculaire - hypogonadisme hypogonadotrope Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism Hyposmie - nasale und okuläre Hypoplasie - hypogonadotroper Hypogonadismus Iposmia - ipoplasia oculare e nasale - ipogonadismo ipogonadotropo hrdo:pat_id_2121 188150 C536904 2251 C2931366 malformation syndrome Anomalia do polegar - alopecia - anomalia da pigmentação Daumenfehlbildung - Alopezie - Pigmentanomalien Hipoplasia de pulgar - alopecia - anomalías pigmentarias Hypoplasie du pouce - alopécie - anomalie de la pigmentation Ipoplasia del pollice - alopecia - anomalie della pigmentazione Thumb deformity - alopecia - pigmentation anomaly hrdo:pat_id_21212 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 306431 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies Déficit immunitaire de l'adulte avec autoanticorps anti-interféron-gamma Immundefekt des Erwachsenen, mit anti-Interferon gamma-Antikörper Immunodeficienza a esordio nell'età adulta con autoanticorpi anti-interferone gamma Inmunodeficiencia del adulto con autoanticuerpos anti-interferón-gamma Acquired adult-onset immunodeficiency Acquired adult-onset immunodeficiency Déficit immunitaire de l'adulte acquis Immundefekt des Erwachsenen, erworbener Immunodeficienza acquisita a esordio nell'età adulta Inmunodeficiencia adquirida del adulto hrdo:pat_id_21213 neant E74.3 306436 clinical subtype CSID avec intolerance à l'amidon CSID con intolerancia al almidón CSID con intolleranza all'amido CSID mit Stärke-Intoleranz CSID with starch intolerance Congenital sucrase-isomaltose malabsorption with starch intolerance Congenital sucrose intolerance with starch intolerance DSIC avec intolerance à l'amidon Deficiencia congénita de sacarasa-isomaltasa con intolerancia al almidón Disaccharid-Intoleranz mit Stärke-Intoleranz Disaccharide intolerance with starch intolerance Intolerancia a disacáridos con intolerancia al almidón Intolerancia congénita a la sacarosa con intolerancia al almidón Intolleranza ai disaccaridi con intolleranza all'amido Intolleranza congenita al saccarosio con intolleranza all'amido Intolérance aux disaccharides avec intolerance à l'amidon Intolérance congénitale au sucrose avec intolerance à l'amidon Kongenitale Saccharose-Isomaltose-Malabsorption mit Stärke-Intoleranz Kongenitaler Sucrase-Isomaltase-Mangel mit Stärke-Intoleranz Malabsorción congénita de sacarasa-isomaltasa con intolerancia al almidón Malabsorption congénitale du sucrose et isomaltose avec intolerance à l'amidon Malassorbimento congenito di saccarosio-isomaltasi con intolleranza all'amido Congenital sucrase-isomaltase deficiency with starch intolerance Congenital sucrase-isomaltase deficiency with starch intolerance Deficit congenito di saccarosio-isomaltasi con intolleranza all'amido Déficit congénito de sacarasa-isomaltasa con intolerancia al almidón Déficit en sucrase-isomaltase congénitale avec intolerance à l'amidon Kongenitale Saccharosein-Toleranz mit Stärke-Intoleranz hrdo:pat_id_21214 neant E74.3 306446 clinical subtype CSID avec tolérance minime à l'amidon CSID con lieve intolleranza all'amido CSID con tolerancia mínima al almidón CSID mit geringer Stärke-Toleranz CSID with minimal starch tolerance Congenital sucrase-isomaltose malabsorption with minimal starch tolerance Congenital sucrose intolerance with minimal starch tolerance DSIC avec tolérance minime à l'amidon Deficiencia congénita de sacarasa-isomaltasa con tolerancia mínima al almidón Disaccharid-Intoleranz mit geringer Stärke-Toleranz Disaccharide intolerance with minimal starch tolerance Intolerancia a disacáridos con tolerancia mínima al almidón Intolerancia congénita a la sacarosa con tolerancia mínima al almidón Intolleranza ai disaccaridi con lieve intolleranza all'amido Intolleranza congenita al saccarosio con lieve intolleranza all'amido Intolérance aux disaccharides avec tolérance minime à l'amidon Intolérance congénitale au sucrose avec tolérance minime à l'amidon Kongenitaler Saccharase-Isomaltase-Mangel mit geringer Stärke-Toleranz Malabsorción congénita de sacarasa-isomaltasa con tolerancia mínima al almidón Malabsorption congénitale du sucrose et isomaltose avec tolérance minime à l'amidon Malassorbimento congenito di saccarosio-isomaltasi con lieve intolleranza all'amido Saccharose-Isomaltose-Malabsorption, kongenitale Congenital sucrase-isomaltase deficiency with minimal starch tolerance Congenital sucrase-isomaltase deficiency with minimal starch tolerance Deficit congenito di saccarosio-isomaltasi con lieve intolleranza all'amido Déficit congénito de sacarasa-isomaltasa con tolerancia mínima al almidón Déficit en sucrase-isomaltase congénitale avec tolérance minime à l'amidon Kongenitale Saccharose-Intoleranz mit geringer Stärke-Toleranz hrdo:pat_id_21215 neant E74.3 306462 clinical subtype CSID ohne Stärke-Intoleranz CSID sans intolérance à l'amidon CSID senza intolleranza all'amido CSID sin intolerancia al almidón CSID without starch intolerance Congenital sucrase-isomaltose malabsorption without starch intolerance Congenital sucrose intolerance without starch intolerance DSIC sans intolérance à l'amidon Deficiencia congénita de sacarasa-isomaltasa sin intolerancia al almidón Disaccharid-Intoleranz ohne Stärke-Intoleranz Disaccharide intolerance without starch intolerance Intolerancia a disacáridos sin intolerancia al almidón Intolerancia congénita a la sacarosa sin intolerancia al almidón Intolleranza ai disaccaridi senza intolleranza all'amido Intolleranza congenita al saccarosio senza intolleranza all'amido Intolérance aux disaccharides sans intolérance à l'amidon Intolérance congénitale au sucrose sans intolérance à l'amidon Kongenitaler Saccharase-Isomaltase-Mangel ohne Stärke-Intoleranz Kongenitaler Sucrase-Isomaltase-Mangel ohne Stärke-Intoleranz Malabsorción congénita de sacarasa-isomaltasa sin intolerancia al almidón Malabsorption congénitale du sucrose et isomaltose sans intolérance à l'amidon Malassorbimento congenito di saccarosio-isomaltasi senza intolleranza all'amido Congenital sucrase-isomaltase deficiency without starch intolerance Congenital sucrase-isomaltase deficiency without starch intolerance Deficit congenito di saccarosio-isomaltasi senza intolleranza all'amido Déficit congénito de sacarasa-isomaltasa sin intolerancia al almidón Déficit en sucrase-isomaltase congénitale sans intolérance à l'amidon Kongenitale Saccharose-Intoleranz ohne Stärke-Intoleranz hrdo:pat_id_21216 neant E74.3 306474 clinical subtype CSID avec intolérance à l'amidon et au lactose CSID con intolerancia al almidón y a la lactosa CSID con intolleranza all'amido e al lattosio CSID mit Stärke- und Laktose-Intoleranz CSID with starch and lactose intolerance Congenital sucrase-isomaltose malabsorption with starch and lactose intolerance Congenital sucrose intolerance with starch and lactose intolerance DSIC avec intolérance à l'amidon et au lactose Deficiencia congénita de sacarasa-isomaltasa con intolerancia al almidón y a la lactosa Disaccharid-Intoleranz mit Stärke- und Laktose-Intoleranz Disaccharide intolerance with starch and lactose intolerance Intolerancia a disacáridos con intolerancia al almidón y a la lactosa Intolerancia congénita a la sacarosa con intolerancia al almidón y a la lactosa Intolleranza ai disaccaridi con intolleranza all'amido e al lattosio Intolleranza congenita al saccarosio con intolleranza all'amido e al lattosio Intolérance aux disaccharides avec intolérance à l'amidon et au lactose Intolérance congénitale au sucrose avec intolérance à l'amidon et au lactose Kongenitale Saccharose-Isomaltose-Malabsorption mit Stärke- und Laktose-Intoleranz Kongenitaler Saccharase-Isomaltase-Mangel mit Stärke- und Laktose-Intoleranz Malabsorción congénita de sacarasa-isomaltasa con intolerancia al almidón y a la lactosa Malabsorption congénitale du sucrose et isomaltose avec intolérance à l'amidon et au lactose Malassorbimento congenito di saccarosio-isomaltasi con intolleranza all'amido e al lattosio Congenital sucrase-isomaltase deficiency with starch and lactose intolerance Congenital sucrase-isomaltase deficiency with starch and lactose intolerance Deficit congenito di saccarosio-isomaltasi con intolleranza all'amido e al lattosio Déficit congénito de sacarasa-isomaltasa con intolerancia al almidón y a la lactosa Déficit en sucrase-isomaltase congénitale avec intolérance à l'amidon et au lactose Kongenitaler Sucrase-Isomaltase-Mangel mit Stärke- und Laktose-Intoleranz hrdo:pat_id_21217 neant E74.3 306486 clinical subtype CSID ohne Saccharose-Intoleranz CSID sans intolérance au sucrose CSID senza intolleranza al saccarosio CSID sin intolerancia a la sacarosa CSID without sucrose intolerance Congenital sucrase-isomaltose malabsorption without sucrose intolerance Congenital sucrose intolerance without sucrose intolerance DSIC sans intolérance au sucrose Deficiencia congénita de sacarasa-isomaltasa sin intolerancia a la sacarosa Disaccharid-Intoleranz ohne Saccharose-Intoleranz Disaccharide intolerance without sucrose intolerance Intolerancia a disacáridos sin intolerancia a la sacarosa Intolerancia congénita a la sacarosa sin intolerancia a la sacarosa Intolleranza ai disaccaridi senza intolleranza al saccarosio Intolleranza congenita al saccarosio senza intolleranza al saccarosio Intolérance aux disaccharides sans intolérance au sucrose Intolérance congénitale au sucrose sans intolérance au sucrose Kongenitale Saccharose-Isomaltose-Malabsorption ohne Saccharose-Intoleranz Malabsorción congénita de sacarasa-isomaltasa sin intolerancia a la sacarosa Malabsorption congénitale du sucrose et isomaltose sans intolérance au sucrose Malassorbimento congenito di saccarosio-isomaltasi senza intolleranza al saccarosio Congenital sucrase-isomaltase deficiency without sucrose intolerance Congenital sucrase-isomaltase deficiency without sucrose intolerance Deficit congenito di saccarosio-isomaltasi senza intolleranza al saccarosio Déficit congénito de sacarasa-isomaltasa sin intolerancia a la sacarosa Déficit en sucrase-isomaltase congénitale sans intolérance au sucrose Kongenitaler Sucrase-Isomaltase-Mangel ohne Saccharose-Intoleranz hrdo:pat_id_21218 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 306498 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 PHTS PHTS PHTS PHTS PHTS PTHS PTEN hamartoma tumor syndrome PTEN hamartoma tumor syndrome PTEN-Hamartoma-Tumor-Syndrom Sindrome tumorale amartomatosa legata a PTEN Syndrome tumoral hamartomateux lié à PTEN Síndrome tumoral hamartomatoso asociado a PTEN hrdo:pat_id_21219 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614748 neant 306504 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Síndrome nefrótico congénito - enfermedad pulmonar intersticial - síndrome de epidermolisis bullosa Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome Congenital nephrotic syndrome-interstitial lung disease-epidermolysis bullosa syndrome Kongenitales Nephrotisches Syndrom-Interstitielle Lungenkrankheit-Epidermolysis bullosa-Syndrom Sindrome nefrosica congenita - pneumopatia interstiziale - epidermolisi bollosa Syndrome néphrotique congénital-pneumopathie interstitielle-épidermolyse bulleuse Síndrome nefrótico congénito - enfermedad pulmonar intersticial - síndrome de epidermolisis ampollosa hrdo:pat_id_2122 179250 neant Q87.2 2252 malformation syndrome Schmitt-Gillenwater-Kelly syndrome Schmitt-Gillenwater-Kelly, síndrome de Sindrome di Schmitt-Gillenwater-Kelly Syndrome de Schmitt-Gillenwater-Kelly Síndrome de Schmitt-Gillenwater-Kelly Hipoplasia radial - polegar trifalângico - hipospadias - diastema maxilar Hipoplasia radial - pulgares trifalángicos - hipospadias - diastema maxilar Hypoplasie du radius - pouces triphalangés - hypospadias - progénie Ipoplasia radiale - pollici trifalangei - ipospadia - diastema mascellare Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema Radiushypoplasie - triphalangeale Daumen - Hypospadie - Progenie - maxilläres Diastema hrdo:pat_id_21220 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614199 neant N04 306507 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 LAMB-2-related infantile-onset nephrotic syndrome LAMB-2-related infantile-onset nephrotic syndrome Nephrotisches Syndrom Typ 5 Sindrome nefrosica LAMB-2-correlata a esordio infantile Syndrome néphrotique infantile liée à LAMB-2 Síndrome nefrótico de aparición infantil relacionado con LAMB-2 hrdo:pat_id_21221 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 613647 neant G11.4 306511 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SPG48 SPG48 SPG48 SPG48 SPG48 Autosomal recessive spastic paraplegia type 48 Autosomal recessive spastic paraplegia type 48 Paraplegia spastica autosomica recessiva, tipo 48 Paraplejía espástica autosómica recesiva tipo 48 Paraplégie spastique autosomique récessive type 48 Spastische Paraplegie, autosomal-rezessive, Typ 48 hrdo:pat_id_21222 neant E83.4 306516 group of phenomes Familial primary hypomagnesemia with hypercalcuria Familial primary hypomagnesemia with hypercalcuria Hipomagnesemia primaria familiar con hipercalciuria Hypomagnesiämie mit Hyperkalziurie, familiäre primäre Hypomagnésémie primaire familiale avec hypercalcurie Ipomagnesemia primitiva familiare con ipercalciuria hrdo:pat_id_21223 306519 group of phenomes Familial primary hypomagnesemia with hypocalcuria Familial primary hypomagnesemia with hypocalcuria Hipomagnesemia primaria familiar con hipocalciuria Hypomagnesiämie mit Hypokalziurie, familiäre primäre Hypomagnésémie primaire familiale avec hypocalcurie Ipomagnesemia primitiva familiare con ipocalciuria hrdo:pat_id_21224 neant E83.4 306522 group of phenomes Familial primary hypomagnesemia with normocalcuria Familial primary hypomagnesemia with normocalcuria Hipomagnesemia primaria familiar con normocalciuria Hypomagnesiämie mit Normokalziurie, familiäre primäre Hypomagnésémie primaire familiale avec normocalcurie Ipomagnesemia primitiva familiare con normocalciuria hrdo:pat_id_21225 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601471 neant Q87.0 306527 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo morphological anomaly <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Fazialisparese, hereditäre isolierte kongenitale Isolated hereditary congenital facial paralysis Isolated hereditary congenital facial paralysis Paralisi facciale congenita ereditaria isolata Paralysie faciale congénitale héréditaire isolée Parálisis facial hereditaria congénita aislada hrdo:pat_id_21226 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 604185 614744 neant Q87.0 306530 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo morphological anomaly <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Congenital hereditary facial palsy with variable deafness Congenital hereditary facial palsy with variable hearing loss Congenital hereditary facial paralysis with variable deafness Gesichtslähmung, angeborene, mit variabler Schwerhörigkeit Paralisi facciale ereditaria congenita con sordità variabile Parálisis facial hereditaria congénita con sordera variable Congenital hereditary facial paralysis with variable hearing loss Congenital hereditary facial paralysis with variable hearing loss Fazialisparese, hereditäre, mit variablem Hörverlust Paralisi facciale ereditaria congenita con perdita di udito variabile Paralysie faciale congénitale héréditaire avec surdité variable Parálisis facial hereditaria congénita con pérdida variable de audición hrdo:pat_id_21227 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 173650 neant 306539 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hereditary acrokeratotic poikiloderma of Kindler-Weary Hereditary acrokeratotic poikiloderma of Kindler-Weary Poichilodermia acrocheratosica ereditaria di Kindler-Weary Poikilodermie, akrokeratotische kongenitale, Typ Kindler-Weary Poiquilodermia acroqueratósica hereditaria de Kindler-Weary Poïkilodermie acrokératosique congénitale de Kindler-Weary hrdo:pat_id_21228 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613456 neant 306542 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ALX1-abhängige fronto-nasale Dysplasie ALX1-related frontonasal dysplasia Displasia frontonasal relacionada con ALX1 Displasia frontonasale ALX1-correlata Dysplasie fonto-nasale liée à ALX1 Fronto-nasale Dysplasie-schwere Mikrophthalmie-Gesichtsspalten-Syndrom Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome Sindrome displasia frontonasale-microftalmia grave-schisi facciale grave Syndrome de dysplasie fronto-nasale-microphtalmie sévère-fente faciale sévère Síndrome de displasia frontonasal - microftalmia grave - fisura facial grave hrdo:pat_id_21229 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613730 neant 306547 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Porencephaly-microcephaly-bilateral congenital cataract syndrome Porencephaly-microcephaly-bilateral congenital cataract syndrome Porenzephalie-Mikrozephalie-bilaterale kongenitale Katarakte-Syndrom Sindrome porencefalia-microcefalia-cataratta congenita bilaterale Syndrome de porencéphalie-microcéphalie-cataracte bilatérale congénitale Síndrome de porencefalia - microcefalia - catarata congénita bilateral hrdo:pat_id_2123 Variabel Variabile Variable Variable Variable Variable Variável 600001 2255 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome di Yorifuji-Okuno Syndrome de Yorifuji-Okuno Síndrome de Yorifuji-Okuno Síndrome de Yorifuji-Okuno Yorifuji-Okuno syndrome Yorifuji-Okuno, síndrome de Yorifuji-Okuno-Syndrom Hipoplasia do pâncreas - diabetes - cardiopatia Hipoplasia pancreática - diabetes - cardiopatía congénita Hypoplasie pancréatique - diabète - cardiopathie congénitale Ipoplasia pancreatica - diabete - cardiopatia congenita Pancreatic hypoplasia - diabetes - congenital heart disease Pankreashypoplasie - Diabetes - Herzkrankheit hrdo:pat_id_21230 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613759 neant 306550 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Déficit immunitaire lié à FADD FADD-abhängiger Immundefekt FADD-related immunodeficiency FADD-related immunodeficiency Immunodeficienza FADD-correlata Inmunodeficiencia relacionada con FADD hrdo:pat_id_21231 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 306553 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Esferulocitosis Sferulocitosi Spherulocytosis Spherulozytose Sphérulocytose Mioesferulosis Miosferulosi Myospherulose Myospherulosis Myospherulosis Myosphérulose hrdo:pat_id_21232 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614231 neant 306558 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome Primäre Mikrozephaliey-Epilepsie-permanentes neonatales Diabetes-Syndrom Sindrome microcefalia primitiva-epilessia-diabete neonatale permanente Syndrome de microcéphalie primaire-épilepsie-diabète neonatal permanent Síndrome de microcefalia primaria - epilepsia - diabetes neonatal permanente hrdo:pat_id_21233 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant H26.0 306561 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Autosomal dominant childhood-onset progressive cortical cataract Cataracte corticale progressive de l'enfant autosomique dominante Catarata cortical progresiva autosómica dominante de inicio en la infancia Cataratta corticale progressiva autosomica dominante a esordio infantile Kortikale Katarakt des Kindes, progressive Autosomal dominant childhood-onset cortical cataract Autosomal dominant childhood-onset cortical cataract Cataracte corticale de l'enfant autosomique dominante Catarata cortical autosómica dominante de inicio en la infancia Cataratta corticale autosomica dominante a esordio infantile Kortikale Katarakt des Kindes, autosomal-dominate hrdo:pat_id_21234 306566 particular clinical situation in a disease or syndrome Prädisposition für Myopathien durch Statin-Behandlung Susceptibilidad a miopatías por tratamiento con estatinas Susceptibility to myopathies due to statin treatment Susceptibility to myopathies due to statin treatment Susceptibilité aux myopathies dans le traitement par les statines Suscettibilità alle miopatie da trattamento con statine hrdo:pat_id_21235 306574 particular clinical situation in a disease or syndrome Choix du dosage du méthotrexate Methotrexat Dosis-Selektion Methotrexate dose selection Methotrexate dose selection Selección de dosis de metotrexato Selezione del dosaggio di metotrexato hrdo:pat_id_21236 133020 neant 306577 disease Neuropatia delle piccole fibre SCN9A-correlata Neuropatía de fibras pequeñas ligada a SCN9A Small-fiber-Neuropathie, SCN9A-bedingte Natrium-Ionenkanalkrankheit-bedingte Small-fiber-Neuropathie Neuropathie des petites fibres due à une canalopathie sodique Neuropatia delle piccole fibre associata a canalopatia del sodio Neuropatía de fibras pequeñas ligada a canalopatías de sodio Sodium channelopathy-related small fiber neuropathy Sodium channelopathy-related small fiber neuropathy hrdo:pat_id_21237 145410 neant Q87.8 306588 etiological subtype ADOS ADOS ADOS ADOS ADOS Autosomal dominant Opitz BBB/G syndrome Autosomal dominant Opitz syndrome Opitz-Syndrom, autosomal-dominantes Sindrome di Opitz BBB/G autosomica dominante Sindrome di Opitz autosomica dominante Syndrome Opitz BBB/G autosomique dominant Syndrome Opitz autosomique dominant Síndrome de Opitz BBB/G autosómico dominante Síndrome de Opitz autosómico dominante Autosomal dominant Opitz G/BBB syndrome Autosomal dominant Opitz G/BBB syndrome Opitz BBB/G-Syndrom, autosomal-dominantes Sindrome di Opitz G/BBB autosomica dominante Syndrome d'Opitz G/BBB autosomique dominant Síndrome de Opitz G/BBB autosómico dominante hrdo:pat_id_21238 300000 neant Q87.8 306597 etiological subtype Opitz-Syndrom, X-chromosomales Sindrome di Opitz BBB/G legata all'X Sindrome di Opitz legata all'X Syndrome Opitz BBB/G lié à l'X Syndrome Opitz lié à l'X Síndrome de Opitz BBB/G ligado al X Síndrome de Opitz ligado al X X-linked Opitz BBB/G syndrome X-linked Opitz syndrome XLOS XLOS XLOS XLOS XLOS Opitz BBB/G-Syndrom, X-chromosomales Sindrome di Opitz G/BBB legata all'X Syndrome d'Opitz G/BBB lié à l'X Síndrome de Opitz G/BBB ligado al X X-linked Opitz G/BBB syndrome X-linked Opitz G/BBB syndrome hrdo:pat_id_21239 306617 clinical subtype SPG1 SPG1 SPG1 SPG1 SPG1 Paraplegia spastica complicata legata all'X, tipo 1 Paraplejía espástica complicada tipo 1 ligada al X Paraplégie spastique liée à l'X type 1 Spastische Paraplegie, komplizierte, X-chromosomale, Typ 1 X-linked complicated spastic paraplegia type 1 X-linked complicated spastic paraplegia type 1 hrdo:pat_id_2124 228940 neant Q87.8 2256 malformation syndrome Saito-Kuba-Tsuruta syndrome Saito-Kuba-Tsuruta, síndrome de Sindrome di Saito-Kuba-Tsuruta Syndrome de Saito-Kuba-Tsuruta Síndrome de Saito-Kuba-Tsuruta Síndrome de Saito-Kuba-Tsuruta Fibula-/Ulnahypoplasie - Nierenanomalien Fibulo-ulnar hypoplasia - renal anomalies Hipoplasia cubito-peroneal - anomalias renais Hipoplasia de peroné y cúbito - anomalías renales Hypoplasie péroné-cubitus - anomalies rénales Ipoplasia peronale e cubitale - anomalie renali hrdo:pat_id_21240 306633 group of phenomes Cáncer raro del conducto biliar Cáncer raro del tracto biliar Cancer rare des voies biliaires Cancro raro del tratto biliare Cáncer raro de las vías biliares Gallengangkrebs, seltener Rare biliary tract cancer Rare biliary tract tumor hrdo:pat_id_21241 306636 group of phenomes Lebertumor, seltener Rare hepatic tumor Rare hepatic tumor Tumeur rare du foie Tumor hepático raro Tumore epatico raro hrdo:pat_id_21242 306640 group of phenomes Intossicazione rara da prodotti medicinali Intoxicación rara por productos médicos Intoxication médicamenteuse rare Intoxikation, seltene, durch Medizinprodukte Rare intoxication due to medical products Rare intoxication due to medical products hrdo:pat_id_21243 306644 particular clinical situation in a disease or syndrome Complicaciones tras un trasplante de órganos Complication after organ transplantation Complication after organ transplantation Complication après une transplantation d'organe Complicazione in seguito a trapianto di organi Komplikation nach Organtransplantation hrdo:pat_id_21244 306648 group of phenomes Iridociclite non infettiva Iridociclitis no infecciosa Iridocyclite non infectieuse Iridozyklitis, nicht-infektiöse Non-infectious iridocyclitis Non-infectious anterior uveitis Non-infectious anterior uveitis Uveite anteriore non infettiva Uveitis, anteriore, nicht-infektiöse Form Uveítis anterior no infecciosa Uvéite antérieure non infectieuse hrdo:pat_id_21245 610455 neant 306658 clinical subtype Calcinose tumorale normocalcémique Calcinosi tumorale normocalcemica Calcinosis tumoral normocalcémica Normocalcemic tumoral calcinosis Normocalcemic tumoral calcinosis Tumorale Kalzinose, normokalzämische hrdo:pat_id_21246 211900 neant 306661 clinical subtype GALNT3-CDG syndrome GALNT3-CDG-Syndrom Sindrome GALNT3-CDG Syndrome GALNT3-CDG Síndrome GALNT3-CDG Calcinose tumorale hypercalcémique Calcinosi tumorale ipercalcemica Calcinosis tumoral hipercalcémica Hypercalcemic tumoral calcinosis Hypercalcemic tumoral calcinosis Tumorale Kalzinose, hyperkalzämische hrdo:pat_id_21247 306666 group of phenomes Rare parkinsonian syndrome due to neurodegenerative disease Rare parkinsonian syndrome due to neurodegenerative disease Seltenes Parkinson-Syndrom durch neurodegenerative Störung Sindrome parkinsoniana rara da malattia neurodegenerativa Syndrome parkinsonien rare dû à une maladie neurodégénérative Síndrome parkinsoniano raro por una enfermedad neurodegenerativa hrdo:pat_id_21248 306669 disease HP-HA syndrome HP-HA-Syndrom Sindrome HP-HA Syndrome HP-HA Síndrome HP-HA Hemiparkinson-Hemiatrophie-Syndrom Hemiparkinsonism-hemiatrophy syndrome Hemiparkinsonism-hemiatrophy syndrome Sindrome emiparkinsonismo-emiatrofia Syndrome d'hémiparkinsonisme-hémiatrophie Síndrome hemiparkinsonianismo-hemiatrofia hrdo:pat_id_21249 606693 neant 306674 disease PARK9 PARK9 PARK9 PARK9 PARK9 Kufor-Rakeb syndrome Kufor-Rakeb syndrome Kufor-Rakeb-Syndrom Sindrome di Kufor-Rakeb Syndrome de Kufor-Rakeb Síndrome de Rufor-Rakeb hrdo:pat_id_2125 265430 neant Q33.6 2257 malformation syndrome Familial primary pulmonary hypoplasia Hipoplasia pulmonar primaria familiar Hipoplasia pulmonar primária familiar Hypoplasie pulmonaire primitive familiale Ipoplasia polmonare primitiva familiare Pulmonalishypoplasie, familiäre hrdo:pat_id_21250 306679 group of phenomes Rare parkinsonian syndrome due to intoxication Rare parkinsonian syndrome due to intoxication Seltenes Parkinson-Syndrom durch Vergiftung Sindrome parkinsoniana rara da intossicazione Syndrome parkinsonien rare dû à une intoxication Síndrome parkinsoniano raro por intoxicación hrdo:pat_id_21251 neant T57.2 306682 disease Intossicazione da manganese Intoxicación por manganeso Manganese intoxication Avvelenamento da manganese Envenenamiento por manganeso Intoxication au manganèse Mangan-Vergiftung Manganese poisoning Manganese poisoning hrdo:pat_id_21252 neant G21.2 306686 disease CO-induced parkinsonism Parkinsonisme par intoxication au CO Parkinsonismo indotto da CO Parkinsonismo inducido por CO Carbon monoxide-induced parkinsonism Carbon monoxide-induced parkinsonism Kohlenstoffmonoxid-induzierter Parkinsonismus Parkinsonisme par intoxication au monoxide de carbone Parkinsonismo indotto da monossido di carbonio Parkinsonismo inducido por monóxido de carbono hrdo:pat_id_21253 306692 disease Cyanide-induced parkinsonism Cyanide-induced parkinsonism Parkinsonisme par intoxication au cyanide Parkinsonismo da cianuro Parkinsonismo inducido por cianuro Zyanid-induzierter Parkinsonismus hrdo:pat_id_21254 306695 group of phenomes Disturbi vari del movimento da malattia neurodegenerativa Gemischte Bewegungsstörung durch neurodegenerative Krankheit Miscellaneous movement disorder due to neurodegenerative disease Miscellaneous movement disorder due to neurodegenerative disease Trastornos del movimiento diversos por una enfermedad neurodegenerativa Troubles divers du mouvement dus à une maladie neurodégénérative hrdo:pat_id_21255 306708 group of phenomes Frontotemporal neurodegeneration with movement disorder Frontotemporal neurodegeneration with movement disorder Frontotemporale Neurodegeneration mit Bewegungsstörung Neurodegeneración frontotemporal con trastorno del movimiento Neurodegenerazione frontotemporale con disturbo del movimento Neurodégénérescence frontotemporale avec trouble du mouvement hrdo:pat_id_21256 306712 group of phenomes Rare tremor disorder Rare tremor disorder Seltene Störung mit Tremor Temblor raro Tremblement rare Tremore raro hrdo:pat_id_21257 306715 group of phenomes Enfermedad rara con movimientos coréicos Maladie rare avec mouvements choréiques Malattia rara con movimenti coreici Rare choreic movement disorder Rare choreic movement disorder Seltene Bewegungsstörung mit Chorea hrdo:pat_id_21258 306719 group of phenomes Enfermedad neurodegenerativa con corea Maladie neurodégénérative avec mouvements choréiques Malattia neurodegenerativa con corea Neurodegenerative Krankheit mit Chorea Neurodegenerative disease with chorea Neurodegenerative disease with chorea hrdo:pat_id_21259 306727 group of phenomes Enfermedad autoinmune post-infecciosa con corea Maladie autoimmune post-infectieuse avec mouvements choréiques Malattia autoimmune post-infettiva con corea Post-infectious autoimmune disease with chorea Post-infectious autoimmune disease with chorea Post-infektiöse Autoimmunkrankheit mit Chorea hrdo:pat_id_2126 neant Q33.6 2258 disease Congenital unilateral pulmonary hypoplasia Hipoplasia pulmonar unilateral congénita Hipoplasia pulmonar unilateral congénita Hypoplasie pulmonaire congénitale unilatérale Ipoplasia polmonare monolaterale congenita Pulmonalhypoplasie, unilaterale, kongenitale hrdo:pat_id_21260 neant I02 306731 particular clinical situation in a disease or syndrome Chorée de Sydenham Corea de Sydenham Corea di Sydenham Sydenham chorea Sydenham chorea Sydenham-Chorea hrdo:pat_id_21261 614588 neant 306734 disease DYT21 DYT21 DYT21 DYT21 DYT21 Distonia primitiva, tipo DYT21 Distonía primaria, tipo DYT21 Dystonie primaire type DYT21 Dystonie, primäre, Typ DYT21 Primary dystonia, DYT21 type Primary dystonia, DYT21 type hrdo:pat_id_21262 306741 disease HD-HA syndrome HD-HA-Syndrom Sindrome HD-HA Syndrome HD-HA Síndrome HD-HA Hemidystonia-hemiatrophy syndrome Hemidystonia-hemiatrophy syndrome Hemidystonie-Hemiatrophie-Syndrom Sindrome emidistonia-emiatrofia Syndrome d'hémidystonie-hémiatrophie Síndrome hemidistonia-hemiatrofia hrdo:pat_id_21263 306747 group of phenomes Mioclonia rara Mioclono raro Myoclonie rare Myoklonie, seltene Rare myoclonus Rare myoclonus hrdo:pat_id_21264 306750 group of phenomes Mioclonia primitiva Mioclono primario Myoclonie primaire Myoklonie, primäre Primary myoclonus Primary myoclonus hrdo:pat_id_21265 306753 group of phenomes Enfermedad rara con mioclonos como característica principal Maladie rare avec myoclonie comme manifestation majeure Malattia rara con mioclonia come segno cardinale Rare disease with myoclonus as a major feature Rare disease with myoclonus as major feature Seltene Krankheit mit Myoklonie als Hauptmerkmal hrdo:pat_id_21266 306756 group of phenomes Epilepsia y/o ataxia con mioclonos como característica principal Epilepsie et/ou ataxie avec myoclonie comme manifestation majeure Epilepsie und/oder Ataxie mit Myoklonie als Hauptmerkmal Epilepsy and/or ataxia with myoclonus as major feature Epilepsy and/or ataxia with myoclonus as major feature Epilessia e/o atassia con mioclonia come segno cardinale hrdo:pat_id_21267 306759 group of phenomes Epilepsia no progresiva y/o ataxia con mioclonos como característica principal Epilepsie et/ou ataxie non progressive avec myoclonie comme manifestation majeure Epilessia non progressiva e/o atassia con mioclono come segno cardinale Nicht-progressive Epilepsie und/oder Ataxie mit Myoklonie als Hauptmerkmal Non progressive epilepsy and/or ataxia with myoclonus as a major feature Non progressive epilepsy and/or ataxia with myoclonus as a major feature hrdo:pat_id_21268 306762 group of phenomes Epilepsia progresiva y/o ataxia con mioclonos como característica principal Epilepsie et/ou ataxie progressive avec myoclonie comme manifestation majeure Epilessia progressiva e/o atassia con mioclono come segno cardinale Progressive Epilepsie und/oder Ataxie mit Myoklonie als Hauptmerkmal Progressive epilepsy and/or ataxia with myoclonus as a major feature Progressive epilepsy and/or ataxia with myoclonus as a major feature hrdo:pat_id_21269 306765 group of phenomes Bewegungsstörung, stereoTyp Estereotipias motoras Motor stereotypies Motor stereotypies Stereotipie motorie Stéréotypies motrices hrdo:pat_id_21270 306768 group of phenomes Bewegungsstörung, seltene paroxysmale Disturbo raro del movimento parossistico Rare paroxysmal movement disorder Rare paroxysmal movement disorder Trastorno raro del movimiento paroxístico Trouble du mouvement paroxystique rare hrdo:pat_id_21271 neant G25.8 306773 group of phenomes Hiperekplexia Hyperekplexia Hyperekplexia Hyperekplexie Hyperexplexie Iperekplessia hrdo:pat_id_21272 neant G25.8 306776 disease Hiperekplexia esporádica Hyperekplexie, sporadische Hyperexplexie sporadique Iperekplessia sporadica Sporadic hyperekplexia Sporadic hyperekplexia hrdo:pat_id_21273 307052 group of phenomes Disturbo parkinsoniano genetico raro Enfermedad parkinsoniana genética rara Parkinson-Syndrom, seltenes, genetisch bedingtes Rare genetic parkinsonian disorder Rare genetic parkinsonian disorder Syndrome parkinsonien génétique rare hrdo:pat_id_21274 307055 group of phenomes Rare parkinsonian syndrome due to genetic neurodegenerative disease Rare parkinsonian syndrome due to genetic neurodegenerative disease Seltenes Parkinson-Syndrom bei neurodegenerativer Störung Sindrome parkinsoniana rara da malattia neurodegenerativa genetica Syndrome parkinsonien rare dû à une maladie génétique neurodégénérative Síndrome parkinsoniano raro por una enfermedad genética neurodegenerativa hrdo:pat_id_21275 307058 group of phenomes Disturbi vari del movimento da malattia neurodegenerativa genetica Gemischte Bewegungsstörung bei genetischer neurodegenerativer Störung Miscellaneous movement disorder due to genetic neurodegenerative disease Miscellaneous movement disorder due to genetic neurodegenerative disease Trastornos del movimiento diversos por una enfermedad neurodegenerativa genética Troubles divers du mouvement dus à une maladie génétique neurodégénérative hrdo:pat_id_21276 307061 group of phenomes Rare genetic tremor disorder Rare genetic tremor disorder Temblor genético raro Tremblement génétique rare Tremor, seltener, genetisch bedingter Tremore genetico raro hrdo:pat_id_21277 307064 group of phenomes Mioclonia genetica rara Mioclono genético raro Myoclonie génétique rare Myoklonus, seltener, genetisch bedingter Rare genetic myoclonus Rare genetic myoclonus hrdo:pat_id_21278 307067 group of phenomes Enfermedad genética rara con mioclonos como característica principal Maladie génétique rare avec myoclonie comme manifestation majeure Malattia genetica rara con mioclonia come segno cardinale Rare genetic disease with myoclonus as a major feature Rare genetic disease with myoclonus as a major feature Seltene genetisch bedingte Krankheit mit Myoklonus als Hauptmerkmal hrdo:pat_id_21279 neant Q82.8 307141 group of phenomes Diffuse PPK Diffuse keratosis palmoplantaris Diffuse palmoplantar hyperkeratosis Hiperqueratosis palmoplantar difusa Hyperkératose palmoplantaire diffuse Iperkeratosi palmoplantare diffusa KPP diffuse Keratosis palmoplantaris diffusa PPK diffuse PPK diffuso PPK difusa PPK, diffuse Palmoplantare Hyperkeratose, diffuse Queratosis palmoplantar difusa Cheratoderma palmoplantare diffuso Diffuse palmoplantar keratoderma Diffuse palmoplantar keratoderma Kératodermie palmoplantaire diffuse Palmoplantarkeratose, diffuse Queratodermia palmoplantar difusa hrdo:pat_id_21280 neant Q82.8 307148 group of phenomes Hiperqueratosis palmoplantar difusa aislada Hyperkératose palmoplantaire diffuse isolée Ipercheratosi palmoplantare diffusa isolata Isolated diffuse PPK Isolated diffuse keratosis palmoplantaris Isolated diffuse palmoplantar hyperkeratosis KPP diffuse isolée Keratosis palmoplantaris diffusa isolata PPK diffusa isolata PPK diffuse isolée PPK difusa aislada PPK, isolierte diffuse Palmoplantare Hyperkeratose, isolierte diffuse Queratosis palmoplantar difusa aislada Cheratoderma palmoplantare diffuso isolato Isolated diffuse palmoplantar keratoderma Isolated diffuse palmoplantar keratoderma Kératodermie palmoplantaire diffuse isolée Palmoplantarkeratose, isolierte diffuse Queratodermia palmoplantar difusa aislada hrdo:pat_id_21281 neant Q82.8 307711 group of phenomes Disease with diffuse palmoplantar hyperkeratosis as a major feature Enfermedad con hiperqueratosis palmoplantar difusa como característica principal Maladie avec une hyperkératose palmoplantaire diffuse comme manifestation majeure Malattia con ipercheratosi palmoplantare diffusa come segno cardinale Disease with diffuse palmoplantar keratoderma as a major feature Disease with diffuse palmoplantar keratoderma as a major feature Enfermedad con queratodermia palmoplantar difusa como característica principal Krankheit mit diffuser Palmoplantarkeratose als Hauptmerkmal Maladie avec une kératodermie palmoplantaire diffuse comme manifestation majeure Malattia con cheratoderma palmoplantare diffuso come segno cardinale hrdo:pat_id_21283 607656 neant Q82.8 307766 disease CHAC syndrome CHAC-Syndrom CHACS CHACS CHACS CHACS CHACS Sindrome CHAC Syndrome CHAC Síndrome CHAC Curly hair-acral keratoderma-caries syndrome Curly hair-acral keratoderma-caries syndrome Kaushaar-akrales Keratoderm-Karies-Syndromsyndrome Sindrome capelli ricci-cheratoderma acrale-carie Syndrome des cheveux frisés-kératodermie acrale-caries Síndrome de pelo rizado - queratodermia acral - caries hrdo:pat_id_21284 neant Q82.8 307773 group of phenomes Autosomal dominant diffuse mutilating palmoplantar hyperkeratosis Hiperqueratosis palmoplantar mutilante difusa autosómica dominante Hyperkératose palmoplantaire diffuse mutilante autosomique dominante Ipercheratosi palmoplantare mutilante diffusa autosomica dominante Palmoplantare Hyperkeratose, diffuse mutilierende, autosomal-dominante Autosomal dominant diffuse mutilating palmoplantar keratoderma Autosomal dominant diffuse mutilating palmoplantar keratoderma Cheratoderma palmoplantare mutilante diffuso autosomico dominante Kératodermie palmoplantaire diffuse mutilante autosomique dominante Palmoplantarkeratose, diffuse mutilierende, autosomal-dominante Queratodermia palmoplantar mutilante difusa autosómica dominante hrdo:pat_id_21285 neant Q82.8 307804 group of phenomes Autosomal recessive disease with diffuse palmoplantar hyperkeratosis as a major feature Autosomal-rezessive Krankheit mit diffuser palmoplantarer Hyperkeratose als Hauptmerkmal Enfermedad autosómica recesiva con hiperqueratosis palmoplantar difusa como característica principal Maladie autosomique récessive avec hyperkératose palmoplantaire diffuse comme manifestation majeure Malattia autosomica recessiva con ipercheratosi palmoplantare diffusa come segno cardinale Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature Autosomal-rezessive Krankheit mit diffuser Palmoplantarkeratose als Hauptmerkmal Enfermedad autosómica recesiva con queratodermia palmoplantar difusa como característica principal Maladie autosomique récessive avec kératodermie palmoplantaire diffuse comme manifestation majeure Malattia autosomica recessiva con cheratoderma palmoplantare diffuso come segno cardinale hrdo:pat_id_21286 neant Q82.8 307837 group of phenomes Focal PPK Focal keratosis palmoplantaris Focal palmoplantar hyperkeratosis Hiperqueratosis palmoplantar focal Hyperkératose palmoplantaire focale Ipercheratosi palmoplantare focale KPP focale Keratosis palmoplantaris focale PPK focal PPK focale PPK focale PPK, fokale Palmoplantare Hyperkeratose, fokale Queratosis palmoplantar focal Cheratoderma palmoplantare focale Focal palmoplantar keratoderma Focal palmoplantar keratoderma Kératodermie palmoplantaire focale Palmoplantarkeratose, fokale Queratodermia palmoplantar focal hrdo:pat_id_21287 neant Q82.8 307846 group of phenomes Hiperqueratosis palmoplantar focal aislada Hyperkératose palmoplantaire focale isolée Ipercheratosi palmoplantare focale isolata Isolated focal PPK Isolated focal keratosis palmoplantaris Isolated focal palmoplantar hyperkeratosis KPP focale isolée Keratosis palmoplantaris focale isolata PPK PPK focal aislada PPK focale isolato PPK focale isolée PPK, isolierte fokale Palmoplantare Hyperkeratose, isolierte fokale Queratosis palmoplantar focal aislada Cheratoderma palmoplantare focale isolato Isolated focal palmoplantar keratoderma Isolated focal palmoplantar keratoderma Kératodermie palmoplantaire focale isolée Palmoplantarkeratose, isolierte fokale Queratodermia palmoplantar focal aislada hrdo:pat_id_21288 neant Q82.8 307871 group of phenomes Disease with focal palmoplantar hyperkeratosis as a major feature Enfermedad con hiperqueratosis palmoplantar focal como característica principal Maladie avec une hyperkératose palmoplantaire focale comme manifestation majeure Malattia con ipercheratosi palmoplantare focale come segno cardinale Seltene Krankheit mit fokaler palmoplantarer Hyperkeratose als Hauptmerkmal Disease with focal palmoplantar keratoderma as a major feature Disease with focal palmoplantar keratoderma as a major feature Disease with focal palmoplantar keratoderma as a major feature Enfermedad con queratodermia palmoplantar focal como característica principal Maladie avec une kératodermie palmoplantaire focale comme manifestation majeure Malattia con cheratoderma palmoplantare focale come segno cardinale hrdo:pat_id_21289 607658 neant Q82.8 307936 disease HOPP syndrome HOPP-Syndrom Hypotrichose-Keratosis palmoplantaris striata-Akroosteolyse-Periodontitis-Syndrom Hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome Hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome Hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome Sindrome HOPP Sindrome ipotricosi-cheratoderma palmoplantare striato-acroosteolisi-periodontite Sindrome ipotricosi-ipercheratosi palmoplantare striato-acroosteolisi-periodontite Sindrome ipotricosi-osteolisi-periodontite-ipercheratosi palmoplantare Syndrome HOPP Syndrome d'hypotrichose-hyperkératose palmoplantaire-acro-ostéolyse-périodontite Syndrome d'hypotrichose-kératodermie palmoplantaire-acro-ostéolyse-périodontite Syndrome d'hypotrichose-ostéolyse-périodontite-hyperkératose palmoplantaire Síndrome HOPP Síndrome de hipotricosis - hiperqueratosis palmoplantar estriada - acrooestolisis - periodontitis Síndrome de hipotricosis - osteolisis - periodontitis - hiperqueratosis palmoplantar Síndrome de hipotricosis - queratodermia palmoplantar estriada - acrooestolisis - periodontitis Hypotrichosis-Osteolysis-Periodontitis-Palmoplantarkeratose-Syndrom Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome Sindrome ipotricosi-osteolisi-periodontite-cheratoderma palmoplantare Syndrome d'hypotrichose-ostéolyse-périodontite-kératodermie palmoplantaire Síndrome de hipotricosis - osteolisis - periodontitis - queratodermia palmoplantar hrdo:pat_id_2129 241760 neant Q87.8 2261 malformation syndrome Goldblatt-Wallis syndrome Goldblatt-Wallis, síndrome de Goldblatt-Wallis-Syndrom Sindrome di Goldblatt-Wallis Syndrome de Goldblatt-Wallis Síndrome de Goldblatt-Wallis Hipospadias - atraso mental, tipo Goldblatt Hipospadias - déficit intelectual, tipo Goldblatt Hypospadias - déficit intellectuel type Goldblatt Hypospadias - intellectual deficit, Goldblatt type Hypospadie - geistige Retardierung, Typ Goldblatt Ipospadia-ritardo mentale, tipo Goldblatt hrdo:pat_id_21290 neant Q82.8 307967 group of phenomes Hiperqueratosis palmoplantar punctata Hyperkératose palmoplantaire ponctuée Ipercheratosi palmoplantare puntata KPP ponctuée Keratosis palmoplantaris puntata PPK ponctuée PPK punctata PPK puntato PPK, punktierte Palmoplantare Hyperkeratose, punktierte Punctate PPK Punctate keratosis palmoplantaris Punctate palmoplantar hyperkeratosis Queratosis palmoplantar punctata Cheratoderma palmoplantare puntato Kératodermie palmoplantaire ponctuée Palmoplantarkeratose, punktierte Punctate palmoplantar keratoderma Punctate palmoplantar keratoderma Queratodermia palmoplantar punctata hrdo:pat_id_21291 neant Q82.8 307995 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate group of phenomes Hiperqueratosis palmoplantar papulosa marginal Hyperkératose palmoplantaire papuleuse marginale Ipercheratosi palmoplantare papulare marginale Marginal papular palmoplantar hyperkeratosis Palmoplantare Hyperkeratose, marginale papulöse Cheratoderma palmoplantare papulare marginale Kératodermie palmoplantaire papuleuse marginale Marginal papular palmoplantar keratoderma Marginal papular palmoplantar keratoderma Palmoplantarkeratose, marginale papulöse Queratodermia palmoplantar papulosa marginal hrdo:pat_id_21292 neant Q82.8 308013 disease Cheratoderma palmoplantare puntato tipo 3 senza elastoidosi Elastoidosis sin PPKP3 Elastoidosis sin PPPK3 Hiperqueratosis palmoplantar punctata tipo 3 sin elastoidosis Hyperkératose palmoplantaire ponctuée type 3 sans élastoïdose Ipercheratosi palmoplantare puntata tipo 3 senza elastoidosi KPPP3 sans élastoïdose Kératodermie palmoplantaire ponctuée type 3 sans élastoïdose PPKP3 ohne Elastoidose PPKP3 senza elastoidosi PPKP3 without elastoidosis PPPK3 senza elastoidosi PPPK3 without elastoidosis Palmoplantare Hyperkeratose, punktierte, Typ 3, ohne Elastoidose Palmoplantarkeratose, punktierte, Typ 3, ohne Elastoidose Punctate palmoplantar hyperkeratosis type 3 without elastoidosis Punctate palmoplantar keratoderma type 3 without elastoidosis Queratodermia palmoplantar punctata tipo 3 sin elastoidosis Focal acral hyperkeratosis Focal acral hyperkeratosis Hiperqueratosis acral focal Hyperkeratose, akrale fokale Hyperkératose acrale focale Ipercheratosi acrale focale hrdo:pat_id_21293 308023 group of phenomes Disease with punctate palmoplantar hyperkeratosis as a major feature Enfermedad con hiperqueratosis palmoplantar punctata como característica principal Maladie avec une hyperkératose palmoplantaire ponctuée comme manifestation majeure Malattia con ipercheratosi palmoplantare come segno cardinale Seltene Krankheit mit punktierter palmoplantarer Hyperkeratose als Hauptmerkmal Disease with punctate palmoplantar keratoderma as a major feature Disease with punctate palmoplantar keratoderma as a major feature Enfermedad con queratodermia palmoplantar punctata como característica principal Maladie avec une kératodermie palmoplantaire ponctuée comme manifestation majeure Malattia con cheratoderma palmoplantare puntato come segno cardinale Seltene Krankheit mit punktierter Palmoplantarkeratose als Hauptmerkmal hrdo:pat_id_21294 308031 group of phenomes Autosomal dominant disease associated with punctate palmoplantar hyperkeratosis as a major feature Autosomal-dominante Krankheit mit assoziierter punktierter palmoplantarer Hyperkeratose als Hauptmerkmal Enfermedad autosómica dominante asociada con hiperqueratosis palmoplantar punctata como característica principal Maladie autosomique dominante avec une kératodermie hyperkératose ponctuée comme manifestation majeure Malattia autosomica dominante con ipercheratosi palmoplantare puntata come segno cardinale Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature Autosomal-dominante Krankheit mit assoziierter punktierter Palmoplantarkeratose als Hauptmerkmal Enfermedad autosómica dominante asociada con queratodermia palmoplantar punctata como característica principal Maladie autosomique dominante avec une kératodermie palmoplantaire ponctuée comme manifestation majeure Malattia autosomica dominante con cheratoderma palmoplantare puntato come segno cardinale hrdo:pat_id_21295 308041 group of phenomes Autosomal recessive disease associated with punctate palmoplantar hyperkeratosis as a major feature Autosomal-rezessive Krankheit mit assoziierter punktierter palmoplantarer Hyperkeratose als Hauptmerkmal Enfermedad autosómica recesiva asociada con hiperqueratosis palmoplantar punctata como característica principal Maladie autosomique récessive avec une kératodermie hyperkératose ponctuée comme manifestation majeure Malattia autosomica recessiva associata a ipercheratosi palmoplantare puntata come segno cardinale Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature Autosomal-rezessive Krankheit mit assoziierter punktierter Palmoplantarkeratose als Hauptmerkmal Enfermedad autosómica recesiva asociada con queratodermia palmoplantar punctata como característica principal Maladie autosomique récessive avec une kératodermie palmoplantaire ponctuée comme manifestation majeure Malattia autosomica recessiva associata a cheratoderma palmoplantare come segno cardinale hrdo:pat_id_2130 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 146510 D054975 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Pallister+Hall%5Bti%5D D33.0 672 56677004 C0265220 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Amartoblastoma ipotalamico - polidattilia Hamartoblastoma hipotalâmico, sindrome de Hamartoblastome hypothalamique - polydactylie Hamartom im Hypothalamusbereich - Polydaktylie Hypothalamic hamartoblastoma syndrome Síndrome de hamartoblastoma hipotalâmico Pallister-Hall syndrome Pallister-Hall-Syndrom Sindrome di Pallister-Hall Syndrome de Pallister-Hall Síndrome de Pallister-Hall Síndrome de Pallister-Hall hrdo:pat_id_21301 neant Q82.8 308166 group of phenomes Eritrocheratoderma variabilis progressiva Eritroqueratodermia variable progresiva Erythrokeratoderma variabilis progressiva Erythrokeratoderma variabilis progressiva Erythrokeratodermie variable progressive Erythrokeratodermie, progressive variable hrdo:pat_id_21305 277410 neant E72.1 308380 clinical subtype Deficiencia de metilcobalamina tipo cblDv1 Deficiencia funcional de metionina sintasa, tipo cblDv1 Deficit funzionale di metionina sintasi, tipo cblDv1 Déficit fonctionnel en méthionine synthase type cblDv1 Déficit funcional de metionina sintasa, tipo cblDv1 Functional methionine synthase deficiency type cblDv1 Funktionaler Methionin-Synthase-Mangel Typ cblDv1 Deficit di metilcobalamina, tipo cblDv1 Déficit de metilcobalamina tipo cblDv1 Déficit en méthyl-cobalamine type cblDv1 Methylcobalamin deficiency type cblDv1 Methylcobalamin deficiency type cblDv1 Methylcobalamin-Mangel Typ cblDv1 hrdo:pat_id_21306 252150 neant E72.1 308386 etiological subtype Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A Deficiencia combinada de sulfito oxidasa, xantina deshidrogenasa y aldehído oxidasa tipo A Deficiencia de sulfito oxidasa por deficiencia del cofactor molibdeno tipo A Deficit combinato di solfito ossidasi, xantina deidrogenasi e aldeide ossidasi, tipo A Déficit combinado de sulfito oxidasa, xantina deshidrogenasa y aldehído oxidasa tipo A Déficit combiné en sulfite oxydase, xanthine déshydrogénase et aldéhyde oxydase type A MOCOD Typ A MOCOD tipo A MOCOD type A MOCOD type A MOCOD, tipo A Sulfitoxidase, Xanthin-Dehydrogenase und Aldehyd-Oxidase Typ A, kombinierter Mangel Deficit di solfito ossidasi da deficit del cofattore molibdeno, tipo A Déficit de sulfito oxidasa por déficit del cofactor molibdeno tipo A Déficit en sulfite oxydase du à un déficit en cofacteurs du molybdène type A Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Sulfitoxidase-Mangel durch Molybdän-Kofaktor-Mangel Typ A hrdo:pat_id_21307 252150 neant E72.1 308393 etiological subtype Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B Deficiencia combinada de sulfito oxidasa, xantina deshidrogenasa y aldehído oxidasa tipo B Deficiencia de sulfito oxidasa por deficiencia del cofactor molibdeno tipo B Deficit combinato di solfito ossidasi, xantina deidrogenasi e aldeide ossidasi, tipo B Déficit combinado de sulfito oxidasa, xantina deshidrogenasa y aldehído oxidasa tipo B Déficit combiné en sulfite oxydase, xanthine déshydrogénase et aldéhyde oxydase type B MOCOD Typ B MOCOD tipo B MOCOD type B MOCOD type B MOCOD, tipo B Sulfitoxidase, Xanthin-Dehydrogenase und Aldehyd-Oxidase Typ B, kombinierter Mangel Deficit di solfito ossidasi da deficit del cofattore molibdeno, tipo B Déficit de sulfito oxidasa por déficit del cofactor molibdeno tipo B Déficit en sulfite oxydase du à un déficit en cofacteurs du molybdène type B Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B Sulfitoxidase-Mangel durch Molybdän-Kofaktor-Mangel Typ B hrdo:pat_id_21308 252150 neant E72.1 308400 etiological subtype Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C Deficiencia combinada de sulfito oxidasa, xantina deshidrogenasa y aldehído oxidasa tipo C Deficiencia de sulfito oxidasa por deficiencia del cofactor molibdeno tipo C Deficit combinato di solfito ossidasi, xantina ossidasi e aldeide ossidasi, tipo C Déficit combinado de sulfito oxidasa, xantina deshidrogenasa y aldehído oxidasa tipo C Déficit combiné en sulfite oxydase, xanthine déshydrogénase et aldéhyde oxydase type C MOCOD Typ C MOCOD tipo C MOCOD type C MOCOD type C MOCOD, tipo C Sulfitoxidase, Xanthin-Dehydrogenase und Aldehyd-Oxidase Typ C, kombinierter Mangel Deficit di solfito ossidasi da deficit del cofattore molibdeno, tipo C Déficit de sulfito oxidasa por déficit del cofactor molibdeno tipo C Déficit en sulfite oxydase du à un déficit en cofacteurs du molybdène type C Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C Sulfitoxidase-Mangel durch Molybdän-Kofaktor-Mangel Typ C hrdo:pat_id_21309 308407 group of phenomes Difetto del metabolismo dei gamma e beta-aminoacidi Disorder of beta and omega amino acid metabolism Disorder of beta and omega amino acid metabolism Störung des beta- und omega-Aminosäuren-Stoffwechsels Trastornos del metabolismo de los aminoácidos beta y omega Trouble du métabolisme des acides aminés bêta et oméga hrdo:pat_id_21310 614923 neant E71.1 308410 disease Síndrome de autismo-epilepsia por deficiencia de cetoácido de cadena ramificada deshidrogenasa quinasa Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency Autismus-Epilepsie-Syndrom durch Verzweigtketten-Ketosäuredehydrogenase-Kinase-Mangel Sindrome autismo-epilessia da deficit di chetoacido deidrogenasi chinasi a catena ramificata Syndrome d'autisme-épilepsie par défict en kinase déshydrogénase des céto-acides à chaînes ramifiées Síndrome de autismo-epilepsia por déficit de cetoácido de cadena ramificada deshidrogenasa quinasa hrdo:pat_id_21311 251120 neant E71.1 308425 disease Acidemia metilamalonica da deficit di metilmalonil-CoA racemasi Acidemia metilmalónica por deficiencia de metilmalonil-CoA epimerasa Acidemia metilmalónica por deficiencia de metilmalonil-CoA racemasa Acidemia metilmalónica por déficit de metilmalonil-CoA racemasa Aciduria metilmalonica da deficit di metilmalonil-CoA epimerasi Aciduria metilmalonica da deficit di metilmalonil-CoA racemasi Aciduria metilmalónica por deficiencia de metilmalonil-CoA epimerasa Aciduria metilmalónica por deficiencia de metilmalonil-CoA racemasa Aciduria metilmalónica por déficit de metilmalonil-CoA epimerasa Aciduria metilmalónica por déficit de metilmalonil-CoA racemasa Acidurie méthylmalonique par déficit en méthylmalonyl-CoA racémase Acidurie méthylmalonique par déficit en méthylmalonyl-CoA épimérase Deficiencia de MCEE Deficit di MCEE Déficit de MCEE Déficit en MCEE MCEE deficiency MCEE-Mangel Methylmalonazidurie durch Methylmalonyl-CoA-Epimerase-Mangel Methylmalonazidurie durch Methylmalonyl-CoA-Racemerase-Mangel Methylmalonazidämie durch Methylmalonyl-CoA-Racemerase-Mangel Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency Methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency Methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency Acidemia metilmalonica da deficit di metilmalonil-CoA epimerasi Acidemia metilmalónica por déficit de metilmalonil-CoA epimerasa Acidémie méthylmalonique par déficit en méthylmalonyl-CoA épimérase Methylmalonazidämie durch Methylmalonyl-CoA-Epimerase-Mangel Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency hrdo:pat_id_21312 277410 neant E71.1 308442 etiological subtype Aciduria metilmalonica refrattaria alla vitamina B12, tipo cblDv2 Aciduria metilmalónica sensible a la vitamina B12, tipo clbDv2 Acidurie méthylmalonique sensible à la vitamine B12 type cblDv2 Methylmalonazidurie, Vitamin B12-abhängige, Typ cblDv2 Vitamin B12-responsive methylmalonic aciduria, type cblDv2 Acidemia metilmalonica sensibile alla vitamina B12, tipo cblDv2 Acidemia metilmalónica sensible a la vitamina B12, tipo clbDv2 Acidémie méthylmalonique sensible à la vitamine B12 type cblDv2 Methylmalonazidämie, Vitamin B12-abhängige, Typ cblDv2 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 hrdo:pat_id_21313 308448 group of phenomes Deficiencia de aminoacilasa Aminoacylase deficiency Aminoacylase deficiency Aminoacylase-Mangel Deficit di aminoacilasi Déficit de aminoacilasa Déficit en aminoacylase hrdo:pat_id_21314 neant E72.0 308451 group of phenomes Difetto del trasporto degli amminoacidi neutri Disorder of neutral amino acid transport Disorder of neutral amino acid transport Transportstörung neutraler Aminosäuren Trastornos del transporte de aminoácidos neutros Trouble du transport des acides aminés neutres hrdo:pat_id_21315 308459 group of phenomes Alteraciones de la glucólisis Difetto della glicolisi Disorder of glycolysis Disorder of glycolysis Störung der Glykolyse Trouble de la glycolyse hrdo:pat_id_21316 neant E74.1 308463 group of phenomes Difetto del metabolismo del fruttosio Disorder of fructose metabolism Disorder of fructose metabolism Fruktose-Stoffwechselstörung Trastornos del metabolismo de la fructosa Trouble du métabolisme du fructose hrdo:pat_id_21317 neant E74.2 308467 group of phenomes Difetto del metabolismo del galattosio Disorder of galactose metabolism Disorder of galactose metabolism Galaktose-Stoffwechselstörung Trastornos del metabolismo de la galactosa Trouble du métabolisme du galactose hrdo:pat_id_21318 neant E74.2 308473 clinical subtype Deficiencia de uridina difosfato galactosa-4-epimerasa Deficiencia eritrocitaria de GALE Deficiencia eritrocitaria de UDP-galactosa 4-epimerasa Deficiencia eritrocitaria de galactosa epimerasa Deficit di GALE negli eritrociti Deficit di UDP-galattosio-4-epimerasi negli eritrociti Deficit di uridina difosfato galattosio-4-epimerasi Déficit de uridina difosfato galactosa-4-epimerasa Déficit eritrocitario de GALE Déficit eritrocitario de UDP-galactosa 4-epimerasa Déficit érythrocytaire en GALE Déficit érythrocytaire en UDP-galactose-4-épimérase Déficit érythrocytaire en uridine diphosphate-galactose-4-épimérase Erythrocyte GALE deficiency Erythrocyte GALE-D Erythrocyte UDP-galactose-4-epimerase deficiency Erythrocyte epimerase deficiency galactosemia Erythrocyte uridine diphosphate galactose-4-epimerase deficiency GALE, erythrozytärer GALE-D eritrocitaria GALE-D negli eritrociti GALE-D érythrocytaire GALE-D, erythrozytärer Galactosemia por deficiencia de epimerasa eritrocitaria Galactosemia por déficit de epimerasa eritrocitaria Galattosemia da deficit di epimerasi negli eritrociti UDP-Galaktose-4-Epimerase-Mangel der Erythrozyten Uridin-Diphosphat-Galaktose-4-Epimerase-Mangel Deficit di galattosio epimerasi negli eritrociti Déficit eritrocitario de galactosa epimerasa Déficit érythrocytaire en galactose épimérase Erythrocyte galactose epimerase deficiency Erythrocyte galactose epimerase deficiency Galaktose-Epimerase-Mangel der Erythrozyten hrdo:pat_id_21319 neant E74.2 308487 clinical subtype Deficiencia de uridina difosfato galactosa-4-epimerasa generalizada Deficiencia generalizada de GALE Deficiencia generalizada de UDP-galactosa 4-epimerasa Deficiencia generalizada de galactosa epimerasa Deficit generalizzato di GALE Deficit generalizzato di UDP-galattosio-4-epimerasi Deficit generalizzato di uridina disfofato galattosio-4-epimerasi Déficit generalizado de GALE Déficit generalizado de UDP-galactosa 4-epimerasa Déficit generalizado de uridina difosfato galactosa-4-epimerasa Déficit généralisé en GALE Déficit généralisé en UDP-galactose-4-épimérase Déficit généralisé en uridine diphosphate-galactose-4-épimérase GALE, generalisiert GALE-D generalizado GALE-D generalizzato GALE-D généralisé GALE-D, generalisiert Galattosemia da deficit generalizzato di epimerasi Generalized GALE deficiency Generalized GALE-D Generalized UDP-galactose-4-epimerase deficiency Generalized epimerase deficiency galactosemia Generalized uridine diphosphate galactose-4-epimerase deficiency UDP-Galaktose-4-Epimerase-Mangel, generalisierter Uridin-Diphosphat-Galaktose-4-Epimerase-Mangel, generalisierter Deficit generalizzato di galattosio epimerasi Déficit generalizado de galactosa epimerasa Déficit généralisé en galactose épimérase Galaktose-Epimerase-Mangel, generalisierter Generalized galactose epimerase deficiency Generalized galactose epimerase deficiency hrdo:pat_id_21320 neant E74.0 308520 group of phenomes GSD da deficit di glicogeno sintasi GSD due to glycogen synthase deficiency GSD durch Glykogen-Synthase-Mangel GSD par déficit en glycogène synthase GSD por déficit de glucógeno sintasa Glcogenosi da deficit di glicogeno sintasi Glucogenosis por déficit de glucógeno sintasa Glycogenosis due to glycogen synthase deficiency Glykogenose Glykogen-Synthase-Mangel Enfermedad de almacenamiento de glucógeno por déficit de glucógeno sintasa Glycogen storage disease due to glycogen synthase deficiency Glycogen storage disease due to glycogen synthase deficiency Glycogènose par déficit en glycogène synthase Glykogen-Speicherkrankheit durch Glykogen-Synthase-Mangel Malattia da deposito di glicogeno dovuta a deficit di glicogeno sintasi hrdo:pat_id_21321 neant E74.0 308552 clinical subtype Alpha-1,4-Glukosidase-Mangel, infantile Form Alpha-1,4-glucosidase acid deficiency, infantile onset Deficit di alfa-1,4-glucosidasi acida, a esordio infantile Déficit de alfa-1,4-glucosidasa ácida de aparición infantil Déficit en alpha-1,4-glucosidase acide à début infantile Enfermedad de Pompe de aparición infantil Enfermedad de almacenamiento de glucógeno tipo 2 de aparición infantil GSD Typ 2, infantile Form GSD da deficit di maltasi acida, a esordio infantile GSD due to acid maltase deficiency, infantile onset GSD durch Saure-Maltase-Mangel, infantile Form GSD por déficit de maltasa ácida de aparición infantil GSD tipo 2 de aparición infantil GSD tipo 2, a esordio infantile GSD type 2, infantile onset Glicogenosi da deficit di maltasi acida, a esordio infantile Glicogenosi tipo 2, a esordio infantile Glucogenosis por déficit de maltasa ácida de aparición infantil Glucogenosis tipo 2 de aparición infantil Glycogen storage disease type 2, infantile onset Glycogenosis due to acid maltase deficiency, infantile onset Glycogénose type 2 à début infantile Glykogen-Speicherkrankheit Typ 2, infantile Form Glykogenose Typ 2, infantile Form Glykogenose durch Saure-Maltase-Mangel, infantile Form Maladie de Pompe à début infantile Malattia da deposito di glicogeno tipo 2, a esordio infantile Malattia di Pompe a esordio infantile Pompe disease, infantile onset Pompe-Krankheit, infantile Form Type 2 glycogenosis, infantile onset Enfermedad de almacenamiento de glucógeno por déficit de maltasa ácida de aparición infantil Glycogen storage disease due to acid maltase deficiency, infantile onset Glycogen storage disease due to acid maltase deficiency, infantile onset Glycogénose par déficit en maltase acide à début infantile Glykogen-Speicherkrankheit durch Saure-Maltase-Mangel, infantile From Malattia da deposito di glicogeno da deficit di maltasi acida, a esordio infantile hrdo:pat_id_21322 neant E74.0 308573 clinical subtype Alpha-1,4-Glukosidase-Mangel, juvenile Form Alpha-1,4-glucosidase acid deficiency, juvenile onset Deficit di Alfa-1,4-glucosidasi acida, a esordio giovanile Déficit de alfa-1,4-glucosidasa ácida de aparición juvenil Déficit en alpha-1,4-glucosidase acide à début juvénile Enfermedad de Pompe de aparición juvenil Enfermedad de almacenamiento de glucógeno tipo 2 de aparición juvenil GSD Typ 2, juvenile Form GSD da deficit di maltasi acida, a esordio giovanile GSD due to acid maltase deficiency, juvenile onset GSD durch Saure-Maltase-Mangel, juvenile Form GSD por déficit de maltasa ácida de aparición juvenil GSD tipo 2 de aparición juvenil GSD tipo 2, a esordio giovanile GSD type 2, juvenile onset Glicogenosi da deficit di maltasi acida, a esordio giovanile Glicogenosi tipo 2, a esordio giovanile Glucogenosis por déficit de maltasa ácida de aparición juvenil Glucogenosis tipo 2 de aparición juvenil Glycogen storage disease type 2, juvenile onset Glycogenosis due to acid maltase deficiency, juvenile onset Glycogénose type 2 à début juvénile Glykogen-Speicherkrankheit Typ 2, juvenile Form Glykogenose Typ 2, juvenile Form Glykogenose durch Saure-Maltase-Mangel, juvenile Form Maladie de Pompe à début juvénile Malattia da deposito di glicogeno tipo 2, a esordio giovanile Malattia di Pompe disease, a esordio giovanile Pompe disease, juvenile onset Pompe-Krankheit, juvenile Form Type 2 glycogenosis, juvenile onset Enfermedad de almacenamiento de glucógeno por déficit de maltasa ácida de aparición juvenil Glycogen storage disease due to acid maltase deficiency, juvenile onset Glycogen storage disease due to acid maltase deficiency, juvenile onset Glycogénose par déficit en maltase acide à début juvénile Glykogen-Speicherkrankheit durch Saure-Maltase-Mangel, juvenile Form Malattia da deposito di glicogeno dovuta a deficit di maltasi acida, a esordio giovanile hrdo:pat_id_21324 neant E74.0 308604 clinical subtype Alpha-1,4-Glukosidase-Mangel, adulte Form Alpha-1,4-glucosidase acid deficiency, adult onset Deficit di Alfa-1,4-glucosidasi acida, a esordio nell'età adulta Déficit de alfa-1,4-glucosidasa ácida de aparición adulta Déficit en alpha-1,4-glucosidase acide de l'adulte Enfermedad de Pompe de aparición adulta Enfermedad de almacenamiento de glucógeno tipo 2 de aparición adulta GSD Typ 2, adulte Form GSD da deficit di maltasi acida, a esordio nell'età adulta GSD due to acid maltase deficiency, adult onset GSD durch Saure-Maltase-Mangel, adulte Form GSD por déficit de maltasa ácida de aparición adulta GSD tipo 2 de aparición adulta GSD tipo 2, a esordio nell'età adulta GSD type 2, adulte onset Glicogenosi da deficit di maltasi acida, a esordio nell'età adulta Glicogenosi tipo 2, a esordio nell'età adulta Glucogenosis por déficit de maltasa ácida de aparición adulta Glucogenosis tipo 2 de aparición adulta Glycogen storage disease type 2, adult onset Glycogenosis due to acid maltase deficiency, adult onset Glycogénose type 2 de l'adulte Glykogen-Speicherkrankheit Typ 2, adulte Form Glykogenose Typ 2, adulte Form Glykogenose durch Saure-Maltase-Mangel, adulte Form Maladie de Pompe de l'adulte Malattia da deposito di glicogeno tipo 2, a esordio nell'età adulta Malattia di Pompe, a esordio nell'età adulta Pompe disease, adult onset Pompe-Krankheit, adulte Form Type 2 glycogenosis, adult onset Enfermedad de almacenamiento de glucógeno por déficit de maltasa ácida de aparición adulta Glycogen storage disease due to acid maltase deficiency, adult onset Glycogen storage disease due to acid maltase deficiency, adult onset Glycogénose par déficit en maltase acide de l'adulte Glykogen-Speicherkrankheit durch Saure-Maltase-Mangel, adulte Form Malattia da deposito di glicogeno dovuta a deficit di maltasi acida, a esordio nell'età adulta hrdo:pat_id_21325 232500 neant E74.0 308621 clinical subtype Deficit di GDE, forma epatica progressiva Déficit de GDE, forma hepática progresiva Enfermedad de almacenamiento de glucógeno tipo 4, forma hepática progresiva GBE deficiency, progressive hepatic form GDE-Mangel, progressive hepatische Form GSD Typ 3, progressive hepatische Form GSD da deficit dell'enzima deramificante del glicogeno, forma epatica progressiva GSD due to glycogen branching enzyme deficiency, progressive hepatic form GSD durch Glykogen-Debranching-Enzym-Mangel, progressive hepatische Form GSD par déficit en enzyme branchante forme hépatique progressive GSD por déficit de la enzima desramificante del glucógeno, forma hepática progresiva GSD tipo 3, forma epatica progressiva GSD tipo 4, forma hepática progresiva GSD type 4 forme hépatique progressive GSD type 4, progressive hepatic form GSDIII, forma epatica progressiva GSDIV forme hépatique progressive GSDIV, forma hepática progresiva GSDIV, progressive hepatic form Glcogenosi da deficit dell'enzima deramificante del glicogeno, forma epatica progressiva Glicogenosi tipo 3, forma epatica progressiva Glucogenosis por déficit de la enzima desramificante del glucógeno, forma hepática progresiva Glucogenosis tipo 4, forma hepática progresiva Glycogen storage disease type 4, progressive hepatic form Glycogenosis due to glycogen branching enzyme deficiency, progressive hepatic form Glycogénose type 4 forme hépatique progressive Glykogen-Speicherkrankheit Typ 3, progressive hepatische Form Glykogenose durch Glykogen-Debranching-Enzym-Mangel, progressive hepatische Form Malattia da deposito di glicogeno tipo 3, forma epatica progressiva Typ 3 Glykogenose, progressive hepatische Form Type 4 glycogenosis, progressive hepatic form Enfermedad de almacenamiento de glucógeno por déficit de la enzima desramificante del glucógeno, forma hepática progresiva Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form Glycogen storage disease due to glycogen debranching enzyme deficiency, progressive hepatic form Glycogénose par déficit en enzyme branchante forme hépatique progressive Glykogen-Speicherkrankheit durch Glykogen-Debranching-Enzym-Mangel, progressive hepatische Form Malattia da deposito di glicogeno dovuta a deficit dell'enzima deramificante del glicogeno, forma epatica progressiva hrdo:pat_id_21326 232500 neant E74.0 308638 clinical subtype Deficit di GDE, forma epatica non progressiva Déficit de GDE, forma hepática no progresiva Enfermedad de almacenamiento de glucógeno tipo 4, forma hepática no progresiva GBE deficiency, non progressive hepatic form GDE-Mangel, nonprogressive hepatische Form GSD Typ 3, nonprogressive hepatische Form GSD da deficiti dell'enzima deramificante del glicogeno, forma epatica non progressiva GSD due to glycogen branching enzyme deficiency, non progressive hepatic form GSD durch Glykogen-Debranching-Enzym-Mangel, nonprogressive hepatische Form GSD par déficit en enzyme branchante forme hépatique non progressive GSD por déficit de la enzima desramificante del glucógeno, forma hepática no progresiva GSD tipo 3, forma epatica non progressiva GSD tipo 4, forma hepática no progresiva GSD type 4 forme hépatique non progressive GSD type 4, non progressive hepatic form GSDIII, forma epatica non progressiva GSDIV forme hépatique non progressive GSDIV, forma hepática no progresiva GSDIV, non progressive hepatic form Glcogenosi da deficit dell'enzima deramificante del glicogeno, forma epatica non progressiva Glicogenosi tipo 3, forma epatica non progressiva Glucogenosis por déficit de la enzima desramificante del glucógeno, forma hepática no progresiva Glucogenosis tipo 4, forma hepática no progresiva Glycogen storage disease type 4, non progressive hepatic form Glycogenosis due to glycogen branching enzyme deficiency, non progressive hepatic form Glycogénose type 4 forme hépatique non progressive Glykogen-Speicherkrankheit Typ 3, nonprogressive hepatische Form Glykogenose Typ 3, nonprogressive hepatische Form Glykogenose durch Glykogen-Debranching-Enzym-Mangel, nonprogressive hepatische Form Malattia da deposito di glicogeno tipo 3, forma epatica non progressiva Type 4 glycogenosis, non progressive hepatic form Enfermedad de almacenamiento de glucógeno por déficit de la enzima desramificante del glucógeno, forma hepática no progresiva Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form Glycogen storage disease due to glycogen debranching enzyme deficiency, non progressive hepatic form Glycogénose par déficit en enzyme branchante forme hépatique non progressive Glykogen-Speicherkrankheit durch Glykogen-Debranching-Enzym-Mangel, nonprogressive hepatische Form Malattia da deposito di glicogeno dovuta a deficit dell'enzima deramificante del glicogeno, forma epatica non progressiva hrdo:pat_id_21327 232500 neant E74.0 308655 clinical subtype Déficit de GBE, forma neuromuscular perinatal letal Enfermedad de almacenamiento de glucógeno, forma neuromuscular perinatal letal GBE deficiency, fatal perinatal neuromuscular form GDE Mangel, fatale perinatale neuromuskuläre Form GSD Typ 3, fatale perinatale neuromuskuläre Form GSD due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form GSD durch Glykogen-Debranching-Enzym-Mangel, fatale perinatale neuromuskuläre Form GSD par déficit en enzyme branchante forme neuromusculaire périnatale fatale GSD por déficit de la enzima desramificante del glucógeno, forma neuromuscular perinatal letal GSD tipo 4, forma neuromuscular perinatal letal GSD type 4 forme neuromusculaire périnatale fatale GSD type 4, fatal perinatal neuromuscular form GSDIV forme neuromusculaire périnatale fatale GSDIV, fatal perinatal neuromuscular form GSDIV, forma neuromuscular perinatal letal Glucogenosis por déficit de la enzima desramificante del glucógeno, forma neuromuscular perinatal letal Glucogenosis tipo 4, forma neuromuscular perinatal letal Glycogen storage disease type 4, fatal perinatal neuromuscular form Glycogenosis due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form Glycogénose type 4 forme neuromusculaire périnatale fatale Glykogen-Speicherkrankheit Typ 3, fatale perinatale neuromuskuläre Form Glykogenose Typ 3, fatale perinatale neuromuskuläre Form Glykogenose durch Glykogen-Debranching-Enzym-Mangel, fatale perinatale neuromuskuläre Form Type 4 glycogenosis, fatal perinatal neuromuscular form Enfermedad de almacenamiento de glucógeno por déficit de enzima desramificante, forma neuromuscular perinatal letal Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form Glycogen storage disease due to glycogen debranching enzyme deficiency, fatal perinatal neuromuscular form Glycogénose par déficit en enzyme branchante forme neuromusculaire périnatale fatale Glykogen-Speicherkrankheit durch Glykogen-Debranching-Enzym-Mangel, fatale perinatale neuromuskuläre Form hrdo:pat_id_21328 232500 neant E74.0 308670 clinical subtype Deficit di GDE, forma neuromuscolare congenita Déficit de GDE, forma neuromuscular congénita Enfermedad de almacenamiento de glucógeno tipo 4, forma neuromuscular congénita GBE deficiency, congenital neuromuscular form GDE-Mangel, kongenitaler, neuromuskuläre Form GSD Typ 3, kongenitale, neuromuskuläre Form GSD da deficit dell'enzima deramificante del glicogeno, forma neuromuscolare congenita GSD due to glycogen branching enzyme deficiency, congenital neuromuscular form GSD durch Glykogen-Debranching-Enzym-Mangel, kongenitaler, neuromuskuläre Form GSD par déficit en enzyme branchante forme neuromusculaire congénitale GSD por déficit de la enzima desramificante del glucógeno, forma neuromuscular congénita GSD tipo 3, forma neuromuscolare congenita GSD tipo 4, forma neuromuscular congénita GSD type 4 forme neuromusculaire congénitale GSD type 4, congenital neuromuscular form GSDIII, forma neuromuscolare congenita GSDIV forme neuromusculaire congénitale GSDIV, congenital neuromuscular form GSDIV, forma neuromuscular congénita Glicogenosi da deficit dell'enzima deramificante del glicogeno, forma neuromuscolare congenita Glicogenosi tipo 3, forma neuromuscolare congenita Glucogenosis por déficit de la enzima desramificante del glucógeno, forma neuromuscular congénita Glucogenosis tipo 4, forma neuromuscular congénita Glycogen storage disease type 4, congenital neuromuscular form Glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form Glycogénose type 4 forme neuromusculaire congénitale Glykogen-Speicherkrankheit Typ 3, kongenitale, neuromuskuläre Form Glykogenose Typ 3, kongenitale, neuromuskuläre Form Glykogenose durch Glykogen-Debranching-Enzym-Mangel, kongenitaler, neuromuskuläre Form Malattia da deposito dei glicogeno tipo 3, forma neuromuscolare congenita Type 4 glycogenosis, congenital neuromuscular form Enfermedad de almacenamiento de glucógeno por déficit de la enzima desramificante del glucógeno, forma neuromuscular congénita Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form Glycogen storage disease due to glycogen debranching enzyme deficiency, congenital neuromuscular form Glycogénose par déficit en enzyme branchante forme neuromusculaire congénitale Glykogen-Speicherkrankheit durch Glykogen-Debranching-Enzym-Mangel, kongenitale neuromuskuläre Form Malattia da deposito di glicogeno causata dal deficit dell'enzima deramificante del glicogeno, forma neuromuscolare congenita hrdo:pat_id_21329 232500 neant E74.0 308684 clinical subtype Déficit de GBE, forma combinada hepática y miopática infantil Enfermedad de almacenamiento de glucógeno tipo 4, forma combinada hepática y miopática infantil GBE deficiency, childhood combined hepatic and myopathic form GDE-Mangel der Kindheit, kombinierte hepatische und myopathische Form GSD Typ 3 der Kindheit, kombinierte hepatische und myopathische Form GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form GSD durch Glykogen-Debranching-Enzym-Mangel der Kindheit, kombinierte hepatische und myopathische Form GSD par déficit en enzyme branchante de l'enfant, forme hépatique et myopathique GSD por déficit de la enzima desramificante del glucógeno, forma combinada hepática y miopática infantil GSD tipo 4, forma combinada hepática y miopática infantil GSD type 4 de l'enfant, forme hépatique et myopathique GSD type 4, childhood combined hepatic and myopathic form GSDIV de l'enfant, forme hépatique et myopathique GSDIV, childhood combined hepatic and myopathic form GSDIV, forma combinada hepática y miopática infantil Glucogenosis por déficit de la enzima desramificante del glucógeno, forma combinada hepática y miopática infantil Glucogenosis tipo 4, forma combinada hepática y miopática infantil Glycogen storage disease type 4, childhood combined hepatic and myopathic form Glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form Glycogénose type 4 de l'enfant, forme hépatique et myopathique Glykogen-Speicherkrankheit Typ 3 der Kindheit, kombinierte hepatische und myopathische Form Glykogenose Typ 3 der Kindheit, kombinierte hepatische und myopathische Form Glykogenose durch Glykogen-Debranching-Enzym-Mangel der Kindheit, kombinierte hepatische und myopathische Form Type 4 glycogenosis, childhood combined hepatic and myopathic form Enfermedad de almacenamiento de glucógeno por déficit de enzima desramificante, forma combinada hepática y miopática infantil Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form Glycogen storage disease due to glycogen debranching enzyme deficiency, childhood combined hepatic and myopathic form Glycogénose par déficit en enzyme branchante de l'enfant, forme hépatique et myopathique Glykogen-Speicherkrankheit durch Glykogen-Debranching-Enzym-Mangel der Kindheit, kombinierte hepatische und myopathische Form hrdo:pat_id_2133 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hypotrichosis+mental+retardation+lopes 2266 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Lopes-Marques de Faria syndrome Lopes-Marques de Faria, síndrome de Lopes-Marques-de-Faria-Syndrom Sindrome di Lopes-Marques de Faria Syndrome de Lopes-Marques de Faria Síndrome de Lopes-Marques de Faria Hipotricose - atraso mental, tipo Lopes Hipotricosis - déficit intelectual, tipo Lopes Hypotrichose - geistige Retardierung, Typ Lopes Hypotrichose-déficit intellectuel, type Lopes Hypotrichosis-intellectual deficit, Lopes type Ipotricosi-ritardo mentale, tipo Lopes hrdo:pat_id_21330 232500 neant E74.0 308698 clinical subtype Deficit di GDE, forma neuromuscolare infantile Déficit de GDE, forma neuromuscular infantil Enfermedad de almacenamiento de glucógeno tipo 4, forma neuromuscular infantil GBE deficiency, childhood neuromuscular form GDE-Mangel der Kindheit, neuromuskuläre Form GSD Typ 3 der Kindheit, neuromuskuläre Form GSD da deficit dell'enzima deramificante del glicogeno, forma neuromuscolare infantile GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form GSD durch Glykogen-Debranching-Enzym-Mangel der Kindheit, neuromuskuläre Form GSD par déficit en enzyme branchante de l'enfant, forme neuromusculaire GSD por déficit de la enzima desramificante del glucógeno, forma neuromuscular infantil GSD tipo 3, forma neuromuscolare infantile GSD tipo 4, forma neuromuscular infantil GSD type 4 de l'enfant, forme neuromusculaire GSD type 4, childhood neuromuscular form GSDIII, forma neuromuscolare infantile GSDIV de l'enfant, forme neuromusculaire GSDIV, childhood neuromuscular form GSDIV, forma neuromuscular infantil Glicogenosi da deficit dell'enzima deramificante del glicogeno, forma neuromuscolare infantile Glicogenosi tipo 3, forma neuromuscolare infantile Glucogenosis por déficit de la enzima desramificante del glucógeno, forma neuromuscular infantil Glucogenosis tipo 4, forma neuromuscular infantil Glycogen storage disease type 4, childhood neuromuscular form Glycogenosis due to glycogen branching enzyme deficiency, childhood neuromuscular form Glycogénose type 4 de l'enfant, forme neuromusculaire Glykogen-Speicherkrankheit Typ 3 der Kindheit, neuromuskuläre Form Glykogenose durch Glykogen-Debranching-Enzym-Mangel der Kindheit, neuromuskuläre Form Malattia da deposito di glicogeno tipo 3, forma neuromuscolare infantile Type 4 glycogenosis, childhood neuromuscular form Enfermedad de almacenamiento de glucógeno por déficit de la enzima desramificante del glucógeno, forma neuromuscular infantil Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form Glycogen storage disease due to glycogen debranching enzyme deficiency, childhood neuromuscular form Glycogénose par déficit en enzyme branchante de l'enfant, forme neuromusculaire Glykogen-Speicherkrankheit durch Glykogen-Debranching-Enzym-Mangel der Kindheit, neuromuskuläre Form Malattia da deposito di glicogeno causata dal deficit dell'enzima deramificante del glicogeno, forma neuromuscolare infantile hrdo:pat_id_21331 232500 neant E74.0 308712 clinical subtype Deficit di GDE, forma neuromuscolare dell'adulto Déficit de GDE, forma neuromuscular del adulto Enfermedad de almacenamiento de glucógeno tipo 4, forma neuromuscular del adulto GBE deficiency, adult neuromuscular form GDE-Mangel, adulte neuromuskuläre Form GSD Typ 3, adulte neuromuskuläre Form GSD da deficit dell'enzima deramificante del glicogeno, forma neuromuscolare dell'adulto GSD due to glycogen branching enzyme deficiency, adult neuromuscular form GSD durch Glykogen-Debranching-Enzym-Mangel, adulte neuromuskuläre Form GSD par déficit en enzyme branchante de l'adulte, forme neuromusculaire GSD por déficit de la enzima desramificante del glucógeno, forma neuromuscular del adulto GSD tipo 3, forma neuromuscolare dell'adulto GSD tipo 4, forma neuromuscular del adulto GSD type 4 de l'adulte, forme neuromusculaire GSD type 4, adult neuromuscular form GSDIII, forma neuromuscolare dell'adulto GSDIV de l'adulte, forme neuromusculaire GSDIV, adult neuromuscular form GSDIV, forma neuromuscular del adulto Glicogenosi da deficit dell'enzima deramificante del glicogeno, forma neuromuscolare dell'adulto Glicogenosi tipo 3, forma neuromuscolare dell'adulto Glucogenosis por déficit de la enzima desramificante del glucógeno, forma neuromuscular del adulto Glucogenosis tipo 4, forma neuromuscular del adulto Glycogen storage disease type 4, adult neuromuscular form Glycogenosis due to glycogen branching enzyme deficiency, adult neuromuscular form Glycogénose type 4 de l'adulte, forme neuromusculaire Glykogen-Speicherkrankheit Typ 3, adulte neuromuskuläre Form Glykogenose Typ 3, adulte neuromuskuläre Form Glykogenose durch Glykogen-Debranching-Enzym-Mangel, adulte neuromuskuläre Form Malattia da deposito di glicogeno tipo 3, forma neuromuscolare dell'adulto Type 4 glycogenosis, adult neuromuscular form Enfermedad de almacenamiento de glucógeno por déficit de la enzima desramificante del glucógeno, forma neuromuscular del adulto Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form Glycogen storage disease due to glycogen debranching enzyme deficiency, adult neuromuscular form Glycogénose par déficit en enzyme branchante de l'adulte, forme neuromusculaire Glykogen-Speicherkrankheit durch Glykogen-Debranching-Enzym-Mangel, adulte neuromuskuläre Form Malattia da deposito di glicogeno causata dal deficit dell'enzima deramificante del glicogeno, forma neuromuscolare dell'adulto hrdo:pat_id_21332 308993 group of phenomes Deficiencia de glicerol quinasa Deficit di glicerolo chinasi Déficit de glicerol quinasa Déficit en glycérol kinase Glycerol kinase deficiency Glycerol kinase deficiency Glycerol-Kinase-Mangel hrdo:pat_id_21333 308998 group of phenomes Difetto del metabolismo del gliossilato Disorder of glyoxylate metabolism Disorder of glyoxylate metabolism Glyoxylat-Stoffwechselstörung Trastornos del metabolismo del glioxilato Trouble du métabolisme du glyoxylate hrdo:pat_id_21334 309001 group of phenomes Difetto dell'assorbimento e del trasporto dei carboidrati Disorder of carbohydrate absorption and transport Disorder of carbohydrate absorption and transport Kohlenhydrat-Stoffwechselstörung Trastornos de absorción y transporte de los hidratos de carbono Trouble du transport et de l'absorption des carbohydrates hrdo:pat_id_21335 309005 group of phenomes Difetto del metabolismo dei lipidi Disorder of lipid metabolism Disorder of lipid metabolism Fett-Stoffwechselstörung Trastornos del metabolismo de los lípidos Trouble du métabolisme des lipides hrdo:pat_id_21336 238600 neant E78.3 309015 clinical subtype Deficiencia de LPL Deficiencia familiar de lipoproteína lipasa Deficit di LPL Déficit de LPL Déficit en LPL LPL deficiency LPL-Mangel Deficit familiare di lipoproteina lipasi Déficit en lipoprotéine lipase familial Déficit familiar de lipoproteína lipasa Familial lipoprotein lipase deficiency Familial lipoprotein lipase deficiency Lipoprotein-Lipase-Mangel, familiärer hrdo:pat_id_21337 207750 neant E78.3 309020 clinical subtype ApoC-II deficiency ApoC-II-Mangel Deficiencia de apoC-II Deficiencia familiar de apolipoproteína C-II Deficit di apoC-II Déficit de apoC-II Déficit en apoC-II Apolipoprotein CII-Mangel, familiärer Deficit familiare di apolipoproteina C-II Déficit en apolipoprotéine C-II familial Déficit familiar de apolipoproteína C-II Familial apolipoprotein C-II deficiency Familial apolipoprotein C-II deficiency hrdo:pat_id_21338 309025 group of phenomes Deficiencia de mevalonato quinasa Deficit di mevalonato chinasi Déficit de mevalonato quinasa Déficit en mévalonate kinase Mevalonate kinase deficiency Mevalonate kinase deficiency Mevalonatkinase-Mangel hrdo:pat_id_21339 neant K90.3 309028 group of phenomes Difetto dell'assorbimento e del trasporto dei lipidi Disorder of lipid absorption and transport Disorder of lipid absorption and transport Fettstoffwechsel-Störung Trastornos de absorción y transporte de lípidos Trouble du transport et de l'absorption des lipides hrdo:pat_id_2134 146720 C536084 2267 C1840283 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease ICE, síndrome Sidransky-Feinstein-Goodman syndrome Sidransky-Feinstein-Goodman, síndrome de Sidransky-Feinstein-Goodman-Syndrom Sindrome di Sidransky-Feinstein-Goodman Syndrome de Sidransky-Feinstein-Goodman Síndrome ICE Síndrome de Sidransky-Feinstein-Goodman Síndrome de Sidransky-Feinstein-Goodman Ichthyose-Wangen-Augenbrauen-Syndrom Ichthyosis-cheek-eyebrow syndrome Ichtyose - joues proéminentes - sourcils latéraux Sindrome ICE Síndrome ICE Síndrome ictiose - bochecha-sobrancelha hrdo:pat_id_21340 614338 neant K90.3 309031 disease Deficiencia de triacilglicerol-lipasa pancreática Deficit di triacilglicerolo lipasi pancreatica Déficit de triacilglicerol-lipasa pancreática Déficit en triacylglyéerol lipase pancréatique Pancreatic triacylglycerol lipase deficiency Pancreatic triacylglycerol lipase deficiency Triglycerid-Lipase-Mangel, pankreatischer hrdo:pat_id_21341 614338 neant K90.3 309108 disease Deficiencia de colipasa pancreática Deficit di colipasi pancreatica Déficit de colipasa pancreática Déficit en colipase pancréatique Kolipase-Mangel Pancreatic colipase deficiency Pancreatic colipase deficiency hrdo:pat_id_21342 614338 neant K90.3 309111 disease Deficiencia pancreática combinada de lipasa-colipasa Combined pancreatic lipase-colipase deficiency Combined pancreatic lipase-colipase deficiency Deficit combinato di lipasi-colipasi pancreatica Déficit combiné en lipase-colipase pancréatique Déficit pancreático combinado de lipasa-colipasa Kombinierter Lipase-Kolipase-Mangel des Pankreas hrdo:pat_id_21343 neant E71.3 309115 group of phenomes Difetto di ossidazione degli acidi grassi mitocondriali Disorder of mitochondrial fatty acid oxidation Disorder of mitochondrial fatty acid oxidation Störung der mitochondrialen Fettsäureoxidation Trastornos de la oxidación mitocondrial de ácidos grasos Trouble de l'oxydation des acides gras mitochondriaux hrdo:pat_id_21344 neant E71.3 309120 group of phenomes Deficiencia de acil-CoA deshidrogenasa Acyl-CoA dehydrogenase deficiency Acyl-CoA dehydrogenase deficiency Acyl-CoA-Dehydrogenase-Mangel Deficit di acil-CoA deidrogenasi Déficit de acil-CoA deshidrogenasa Déficit en acyl-CoA déshydrogénase hrdo:pat_id_21345 neant E71.3 309127 group of phenomes Deficiencia de 3-hidroxiacil CoA deshidrogenasa 3-Hydroxyacyl-CoA-Dehydrogenase-Mangel 3-hydroxyacyl-CoA dehydrogenase deficiency 3-hydroxyacyl-CoA dehydrogenase deficiency Deficit di 3-idrossiacil-CoA deidrogenasi Déficit de 3-hidroxiacil CoA deshidrogenasa Déficit en 3-hydroxyacyl-CoA déshydrogénase des acides gras hrdo:pat_id_21346 neant E71.3 309130 group of phenomes Carnitin-Stoffwechselstörung Difetto del ciclo e del trasporto della carnitina Disorder of carnitine cycle and carnitine transport Disorder of carnitine cycle and carnitine transport Trastornos del ciclo de la carnitina y del transporte de la carnitina Trouble du cycle de la carnitine et du transport de la carnitine hrdo:pat_id_21347 neant E71.3 309133 group of phenomes Enfermedad metabólica debida a otro trastorno de la oxidación de ácidos grasos Maladie métabolique par une autre anomalie de l'oxydation des acides gras Malattia metabolica da difetto di ossidazione di altri acidi grassi Metabolic disease due to other fatty acid oxidation disorder Other disorder of fatty acid oxidation and ketone body metabolism Stoffwechselkrankheit durch Fettsäureoxidationsstörung hrdo:pat_id_21348 309136 group of phenomes Anomalie mitochondriale par défaut d'assemblage ou de maturation des complexes de la chaîne respiratoire Disturbo mitocondriale da difetto nella maturazione dei complessi della catena respiratoria Enfermedad mitocondrial por un defecto de maduración de los complejos de la cadena respiratoria Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes Mitochondrial disorder due to a maturation defect of the respiratory chain complexes Reifungsdefekt des mitochondrialen Atmungsketten-Komplex hrdo:pat_id_21349 309139 Anomalie mitochondriale par défaut de transcription ou traduction de l'ADNmt Mitochondrial disorder due to a transcription or a translation defect of mtDNA Anomalie mitochondriale par défaut de transcription ou traduction de l'ADN mitochondrial Mitochondrial disorder due to a transcription or a translation defect of mitochondrial DNA Mitochondrial disorder due to a transcription or a translation defect of mitochondrial DNA Mitochondrial disorder due to a transcription or a translation defect of mitochondrial DNA Mitochondrial disorder due to a transcription or a translation defect of mitochondrial DNA Mitochondrial disorder due to a transcription or a translation defect of mitochondrial DNA hrdo:pat_id_2135 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 242510 2269 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Jagel-Holmgren-Hofer-Syndrom Jagell-Holmgren-Hofer syndrome Jagell-Holmgren-Hofer, síndrome de Sindrome di Jagel-Holmgren-Hofer Syndrome de Jagel-Holmgren-Hofer Síndrome de Jagell-Holmgren-Hofer Ichthyose - Alopezie - Ektropion - geistige Retardierung Ichthyosis - alopecia - eclabion - ectropion - intellectual deficit Ichtyose - alopécie - ectropion - déficit intellectuel Ictiose - alopecia - eclábio - ectrópio - atraso mental Ictiosis - alopecia - ectropion - déficit intelectual Ittiosi - alopecia - ectropion - ritardo mentale hrdo:pat_id_21350 neant E75.0 E75.1 309144 group of phenomes Gangliosidose Gangliosidose Gangliosidosi Gangliosidosis Gangliosidosis Gangliosidosis hrdo:pat_id_21351 237400 neant E79.8 309147 disease Hiperalaninemia Hyperalaninemia Hyperalaninämie Hyperalaninémie Iperalaninemia Hiper-beta-alaninemia Hyper-beta-Alaninämie Hyper-beta-alaninemia Hyper-beta-alaninemia Hyper-bêta-alaninémie Iper-beta-alaninemia hrdo:pat_id_21352 neant E75.0 309152 group of phenomes GM2 gangliosidosis GM2 gangliosidosis GM2-Gangliosidose Gangliosidose à GM2 Gangliosidosi GM2 Gangliosidosis GM2 hrdo:pat_id_21353 268800 neant E75.0 309155 clinical subtype Deficiencia de hexosaminidasas A y B, forma infantil Deficit di esosaminidasi A e B, forma infantile Déficit de hexosaminidasas A y B, forma infantil Déficit en hexosaminidases A et B forme infantile GM2-Gangliosidose, infantile, 0-Variante Gangliosidose à GM2 variant 0, forme infantile Gangliosidosi GM2 infantile, variante 0 Gangliosidosis GM2 infantil variante 0 Hexosaminidasen A- und B-Mangel, infantile Formen Hexosaminidases A and B deficiency, infantile form Infantile GM2 gangliosidosis 0 variant Enfermedad de Sandhoff, forma infantil Maladie de Sandhoff infantile Malattia di Sandhoff, forma infantile Sandhoff disease, infantile form Sandhoff disease, infantile form Sandhoff-Krankheit, infantile Form hrdo:pat_id_21354 268800 neant E75.0 309162 clinical subtype Deficiencia de hexosaminidasas A y B, forma juvenil Deficit di esosaminidasi A e B, forma giovanile Déficit de hexosaminidasas A y B, forma juvenil Déficit en hexosaminidases A et B forme juvénile GM2-Gangliosidose, juvenile, 0-Variante Gangliosidose à GM2 variant 0, forme juvénile Gangliosidosi GM2 giovanile, variante 0 Gangliosidosis GM2 juvenil variante 0 Hexosaminidasen A- und B-Mangel, juvenile Formen Hexosaminidases A and B deficiency, juvenile form Juvenile GM2 gangliosidosis 0 variant Enfermedad de Sandhoff, forma juvenil Maladie de Sandhoff juvénile Malattia di Sandhoff, forma giovanile Sandhoff disease, juvenile form Sandhoff disease, juvenile form Sandhoff-Krankheit, juvenile Form hrdo:pat_id_21355 268800 neant E75.0 309169 clinical subtype Adult GM2 gangliosidosis 0 variant Deficiencia de hexosaminidasas A y B, forma adulta Deficit di esosaminidasi A e B, forma dell'adulto Déficit de hexosaminidasas A y B, forma adulta Déficit en hexosaminidases A et B forme adulte GM2-Gangliosidose, adulte, 0-Variante Gangliosidose à GM2 variant 0, forme adulte Gangliosidosi GM2 dell'adulto, variante 0 Gangliosidosis GM2 adulta variante 0 Hexosaminidasen A- und B-Mangel, adulte Formen Hexosaminidases A and B deficiency, adult form Enfermedad de Sandhoff, forma adulta Maladie de Sandhoff adulte Malattia di Sandhoff, forma dell'adulto Sandhoff disease, adult form Sandhoff disease, adult form Sandhoff-Krankheit, adulte Form hrdo:pat_id_21356 neant E75.0 309178 clinical subtype Deficiencia de hexosaminidasa A, forma infantil Deficit di esosaminidasi A, forma infantile Déficit de hexosaminidasa A, forma infantil Déficit en hexosaminidase A forme infantile GM2-Gangliosidose, B-Variante, infantile Form GM2-gangliosidosi, variante B, forma infantile GM2-gangliosidosis, B variant, infantile form Gangliosidose à GM2 variant B, forme infantile Gangliosidosis GM2, variante B, forma infantil Hexosaminidase A deficiency, infantile form Hexosaminidase A-Mangel, infantile Form Enfermedad de Tay-Sachs, variante B, forma infantil Maladie de Tay-Sachs, variant B, forme infantile Malattia di Tay-Sachs, variante B, forma infantile Tay-Sachs disease, B variant, infantile form Tay-Sachs disease, B variant, infantile form Tay-Sachs-Krankheit, B-Variante, infantile Form hrdo:pat_id_21357 neant E75.0 309185 clinical subtype Deficiencia de hexosaminidasa A, forma juvenil Deficit di esosaminidasi A, forma giovanile Déficit de hexosaminidasa A, forma juvenil Déficit en hexosaminidase A forme juvénile GM2-Gangliosidose, B-Variante, juvenile Form GM2-gangliosidosi, variante B, forma giovanile GM2-gangliosidosis, B variant, juvenile form Gangliosidose à GM2 variant B, forme juvénile Gangliosidosis GM2, variante B, forma juvenil Hexosaminidase A deficiency, juvenile form Hexosaminidase A-Mangel, juvenile Form Enfermedad de Tay-Sachs, variante B, forma juvenil Maladie de Tay-Sachs, variant B, forme juvénile Malattia di Tay-Sachs, variante B, forma giovanile Tay-Sachs disease, B variant, juvenile form Tay-Sachs disease, B variant, juvenile form Tay-Sachs-Krankheit, B-Variante, juvenile Form hrdo:pat_id_21358 neant E75.0 309192 clinical subtype Deficiencia de hexosaminidasa A, forma adulta Deficit di esosaminidasi A, forma dell'adulto Déficit de hexosaminidasa A, forma adulta Déficit en hexosaminidase A forme adulte GM2-Gangliosidose, B-Variante, adulte Form GM2-gangliosidosi, variante B, forma dell'adulto GM2-gangliosidosis, B variant, adult form Gangliosidose à GM2 variant B, forme adulte Gangliosidosis GM2, variante B, forma adulta Hexosaminidase A deficiency, adult form Hexosaminidase A-Mangel, adulte Form Enfermedad de Tay-Sachs, variante B, forma adulta Maladie de Tay-Sachs, variant B, forme adulte Malattia di Tay-Sachs, variante B, forma dell'adulto Tay-Sachs disease, B variant, adult form Tay-Sachs disease, B variant, adult form Tay-Sachs-Krankheit, B-Variante, adulte Form hrdo:pat_id_21359 neant E75.0 309239 clinical subtype Deficiencia de hexosaminidasa A, variante B1 Deficit di esosaminidasi A, variante B1 Déficit de hexosaminidasa A, variante B1 Déficit en hexosaminidase A, variant B1 GM2-Gangliosidose, B1-Variante GM2-gangliosidosi, variante B1 GM2-gangliosidosis, B1 variant Gangliosidose à GM2 variant B1 Gangliosidosis GM2, variante B1 Hexosaminidase A deficiency, B1 variant Hexosaminidase A-Mangel, B1-Variante Enfermedad de Tay-Sachs, variante B1 Maladie de Tay-Sachs, variant B1 Malattia di Tay-Sachs, variante B1 Tay-Sachs disease, B1 variant Tay-Sachs disease, B1 variant Tay-Sachs-Krankheit, B1-Variante hrdo:pat_id_2136 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 308050 neant Q87.8 139 17608003 C0265267 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Congenital hemidysplasia with ichthyosiform erythroderma and limbs defects Emidisplasia congenita - eritrodermia ittiosiforme - anomalie degli arti Emidisplasia congenita con eritrodermia ittiosiforme e anomalie degli arti Hemidisplasia congénita com eritrodermia ictiosiforme e anomalias dos membros Hemidysplasie, kongenitale - Erythroderma ichthyosiformis - Gliedmaßenanomalien Hémidysplasie congénitale - érythrodermie ichtyosiforme - anomalies des membres CHILD syndrome CHILD-Syndrom Sindrome CHILD Syndrome CHILD Síndrome CHILD Síndrome CHILD hrdo:pat_id_21360 272750 neant E75.0 309246 disease Deficiencia del activador de hexosaminidasa Deficit dell'attivatore di esosaminidasi Déficit del activador de hexosaminidasa Déficit en hexosaminidase activateur Hexosaminidase activator deficiency Hexosaminidase-Aktivator-Mangel GM2-Gangliosidose, AB-Variante GM2-gangliosidosi, variante AB GM2-gangliosidosis, AB variant GM2-gangliosidosis, AB variant Gangliosidose à GM2 variant AB Gangliosidosis GM2, variante AB hrdo:pat_id_21361 610539 neant E75.2 309252 clinical subtype Enfermedad de Gaucher atípica por deficiencia de saposina C Atypical Gaucher disease due to saposin C deficiency Atypical Gaucher disease due to saposin C deficiency Enfermedad de Gaucher atípica por déficit de saposina C Gaucher-Krankheit, atypische, durch to Saposin C-Mangel Maladie de Gaucher atypique par déficit en saposine C Malattia atipica di Gaucher da deficit di saposina C hrdo:pat_id_21362 neant E75.2 309256 clinical subtype Arylsulfatase A deficiency, late infantile form Arylsulfatase A-Mangel, spät-infantile Form Deficiencia de arilsulfatasa A, forma infantil tardía Deficit di arilsulfatasi A, forma infantile tardiva Déficit de arilsulfatasa A, forma infantil tardía Déficit en Arylsulfatase A, forme infantile tardive MLD, forma infantil tardía MLD, forma infantile tardiva MLD, forme infantile tardive MLD, late infantile form MLD, spät-infantile Form Leucodistrofia metacromatica, forma infantile tardiva Leucodistrofia metacromática, forma infantil tardía Leucodystrophie métachromatique infantile tardive Leukodystrophie, metachromatische, spät-infantile Form Metachromatic leukodystrophy, late infantile form Metachromatic leukodystrophy, late infantile form hrdo:pat_id_21363 neant E75.2 309263 clinical subtype Arylsulfatase A deficiency, juvenile form Arylsulfatase A-Mangel, juvenile Form Deficiencia de arilsulfatasa A, forma juvenil Deficit di arilsulfatasi A, forma giovanile Déficit de arilsulfatasa A, forma juvenil Déficit en Arylsulfatase A, forme juvénile MLD, forma giovanile MLD, forma juvenil MLD, forme juvénile MLD, juvenile Form MLD, juvenile form Leucodistrofia metacromatica, forma giovanile Leucodistrofia metacromática, forma juvenil Leucodystrophie métachromatique juvénile Leukodystrophie, metachromatische, juvenile Form Metachromatic leukodystrophy, juvenile form Metachromatic leukodystrophy, juvenile form hrdo:pat_id_21364 neant E75.2 309271 clinical subtype Arylsulfatase A deficiency, adult form Arylsulfatase A-Mangel, adulte Form Deficiencia de arilsulfatasa A, forma adulta Deficit di arilsulfatasi A, forma dell'adulto Déficit de arilsulfatasa A, forma adulta Déficit en Arylsulfatase A, forme adulte MLD, adult form MLD, adulte Form MLD, forma adulta MLD, forma dell'adulto MLD, forme adulte Leucodistrofia metacromatica, forma dell'adulto Leucodistrofia metacromática, forma adulta Leucodystrophie métachromatique de l'adulte Leukodystrophie, metachromatische, adulte Form Metachromatic leukodystrophy, adult form Metachromatic leukodystrophy, adult form hrdo:pat_id_21365 neant E77 309279 group of phenomes Glicoproteinosi Glucoproteinosis Glycoproteinose Glycoproteinosis Glycoproteinosis Glycoprotéinose hrdo:pat_id_21366 neant E77.1 309282 clinical subtype Deficiencia de alfa-D-manosidasa lisosomal, forma infantil Deficit di alfa-D-mannosidasi lisosomiale, forma infantile Déficit de alfa-D-manosidasa lisosomal, forma infantil Déficit en alpha-D-mannosidase lysosomale forme infantile Lysosomal alpha-D-mannosidase deficiency, infantile form Lysosomaler alpha-D-Mannosidase-Mangel, infantile Form Alfa-mannosidasi, forma infantile Alfa-manosidosis, forma infantil Alpha-Mannosidose, infantile Form Alpha-mannosidose infantile Alpha-mannosidosis, infantile form Alpha-mannosidosis, infantile form hrdo:pat_id_21367 neant E77.1 309288 clinical subtype Deficiencia de alfa-D-manosidasa lisosomal, forma adulta Deficit di alfa-D-mannosidasi lisosomiale, forma dell'adulto Déficit de alfa-D-manosidasa lisosomal, forma adulta Déficit en alpha-D-mannosidase lysosomale forme adulte Lysosomal alpha-D-mannosidase deficiency, adult form Lysosomaler alpha-D-Mannosidase-Mangel, adulte Form Alfa-mannosidosi, forma dell'adulto Alfa-manosidosis, forma adulta Alpha-Mannosidose, adulte Form Alpha-mannosidose de l'adulte Alpha-mannosidosis, adult form Alpha-mannosidosis, adult form hrdo:pat_id_21368 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant E77.1 309294 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo group of phenomes <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sialidose Sialidose Sialidosi Sialidosis Sialidosis Sialidosis hrdo:pat_id_21369 253000 neant E76.2 309297 clinical subtype Deficiencia de GALNS Deficiencia de N-acetilgalactosamina-6-sulfato sulfatasa Deficiencia de galactosamina-6-sulfatasa Deficit di GALNS Deficit di N-acetilgalattosamina-6-solfato solfatasi Deficit di galattosamina-6-solfatasi Déficit de GALNS Déficit de N-acetilgalactosamina-6-sulfato sulfatasa Déficit de galactosamina-6-sulfatasa Déficit en GALNS Déficit en N-acetylgalactosamine-6-sulfate sulfatase Déficit en galactosamine-6-sulfatase Enfermedad de Morquio tipo A GALNS deficiency GALNS-Mangel Galactosamine-6-sulfatase deficiency Galaktosamin-6-Sulfatase-Mangel MPSIVA MPSIVA MPSIVA MPSIVA MPSIVA Maladie de Morquio type A Malattia di Morquio, tipo A Morquio disease type A Morquio-Krankheit Typ A N-Acetyl-Glukosamin-6-Sulfatsulfatase-Mangel N-acetylgalactosamine-6-sulfate sulfatase deficiency Mucopolisacaridosis tipo 4A Mucopolisaccaridosi, tipo 4A Mucopolysaccharidose type 4A Mucopolysaccharidosis type 4A Mucopolysaccharidosis type 4A Mukopolysaccharidose Typ 4A hrdo:pat_id_2137 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance C536560 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=triglyceride+storage+disease%5Btw%5D+OR+triglyceride+storage+diseases%5Btw%5D+OR+Chanarin-Dorfman%5Btw%5D+OR+Neutral+lipid+storage+disease%5Btw%5D E75.5 165 19604005 C0268238 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo group of phenomes <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Chanarin, doença de Doença de Chanarin Lipidose mit Triglyzerid-Speicherkrankheit Lipidosis with triglyceride storage disease Miopatia por acumulação de lípidos neutros Myopathie mit Neutralfett-Speicherung   Enfermedad por depósito de lípidos neutros Lipidose avec surcharge en triglycérides Lipidose com doença no armazenamento de triglicerídeos Lipidosi con sovraccarico di trigliceridi Neutral lipid storage disease Neutralfett-Speicherkrankheit hrdo:pat_id_21370 253010 neant E76.2 309310 clinical subtype Beta-D-Galactosidase-Mangel Beta-D-galactosidase deficiency Deficiencia de beta-D-galactosidasa Deficit di beta-D-galattosidasi Déficit de beta-D-galactosidasa Déficit en bêta-D-galactosidase Enfermedad de Morquio tipo B MPSIVB MPSIVB MPSIVB MPSIVB MPSIVB Maladie de Morquio type B Malattia di Morquio, tipo B Morquio disease type B Morquio-Krankheit Typ B Mucopolisacaridosis tipo 4B Mucopolisaccaridosi, tipo 4B Mucopolysaccharidose type 4B Mucopolysaccharidosis type 4B Mucopolysaccharidosis type 4B Mukopolysaccharidose Typ 4B hrdo:pat_id_21371 neant E77.8 309319 group of phenomes Difetto del metabolismo dell'acido sialico Disorder of sialic acid metabolism Disorder of sialic acid metabolism Sialinsäure-Stoffwechselstörung Trastornos del metabolismo del ácido siálico Trouble du métabolicme de l'acide sialique hrdo:pat_id_21372 269920 neant E77.8 309324 clinical subtype ISSD ISSD ISSD ISSD ISSD Enfermedad de almacenamiento de ácido siálico libre, forma infantil Free sialic acid storage disease, infantile form Free sialic acid storage disease, infantile form Infantile Sialinsäure-Speicherkrankheit Maladie de surcharge en acide sialique libre, forme infantile Malattia da deposito di acido sialico libero, forma infantile hrdo:pat_id_21373 neant E77.8 309331 clinical subtype Enfermedad de Salla intermedia grave Intermediate severe Salla disease Intermediate severe Salla disease Maladie de Salla sévère intermédiaire Malattia di Salla grave intermedia Salla disease, intermediäre schwere hrdo:pat_id_21374 604369 neant E77.8 309334 clinical subtype Enfermedad de Salla Maladie de Salla Malattia di Salla Salla disease Salla disease Salla-Krankheit hrdo:pat_id_21375 neant E74.0 309337 group of phenomes Enfermedad de almacenamiento de glucógeno lisosomal Lysosomal glycogen storage disease Lysosomal glycogen storage disease Lysosomale Glykogen-Speicherkrankheiten Maladie de surcharcge lysosomale du glycogène Malattia da deposito di glicogeno lisosomiale hrdo:pat_id_21376 309340 group of phenomes Anomalie des organelles type lysosomes Difetto degli organelli associati ai lisosomi Disorder of lysosomal-related organelles Disorder of lysosomal-related organelles Störung der Lysosomen-verwandten Organellen Trastornos de los orgánulos relacionados con los lisosomas hrdo:pat_id_21377 neant E77.8 309347 group of phenomes Anomalie de la N-glycosylation Difetto della N-glicosilazione delle proteine Disorder of protein N-glycosylation Disorder of protein N-glycosylation Störung der Protein N-Glykosylierung Trastornos de la N-glicosilación hrdo:pat_id_21378 neant E77.8 309447 group of phenomes Anomalie de la O-glycosylation Difetto della O-glicosilazione delle proteine Disorder of protein O-glycosylation Disorder of protein O-glycosylation Störung der Protein O-Glykosylierung Trastornos de la O-glicosilación hrdo:pat_id_21379 neant E77.8 309450 group of phenomes Anomalie de synthèse des O-xylosylglycanes Difetto della sintesi degli O-xilosilglicani Disorder of O-xylosylglycan synthesis Disorder of O-xylosylglycan synthesis Störung der O-Xylosylglykan-Synthese Trastornos de la síntesis de O-xilosilglicanos hrdo:pat_id_2138 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 2271 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Congenital ichthyosis - microcephalus - quadriplegia Ichtyose congénitale - microcéphalie - quadriplégie Ictiosis congénita - microcefalia - cuadriplejía Ittiosi congenita - microcefalo - quadriplegia Congenital ichthyosis - microcephalus - tetraplegia Ichthyose, kongenitale - Mikrozephalie - Quadriplegie Ichtyose congénitale - microcéphalie - tétraplégie Ictiose congénita - microcefalia - tetraplegia Ictiosis congénita - microcefalia - tetraplejía Ittiosi congenita - microcefalo - tetraplegia hrdo:pat_id_21380 neant E77.8 309458 group of phenomes Anomalie de synthèse des O-N-acétylgalactosaminylglycanes Difetto della sintesi degli O-N-acetilgalattosaminoglicani Disorder of O-N-acetylgalactosaminylglycan synthesis Disorder of O-N-acetylgalactosaminylglycan synthesis Störung der O-N-Acetylgalaktosamin-Glykan-Synthese Trastornos de la síntesis de O-N-acetilgalactosaminilglicanos hrdo:pat_id_21381 neant E77.8 309463 group of phenomes Anomalie de synthèse des O-xylosyl/N-acétylgalactosaminylglycanes Difetto della sintesi degli O-xilosil/N-acetilgalattosaminilglicani Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis Störung der O-Xylosyl/N-Acetylgalaktosamin-Glykan-Synthese Trastornos de la síntesis de O-xilosil/N-acetilgalactosaminilglicanos hrdo:pat_id_21382 neant E77.8 309469 group of phenomes Anomalie de synthèse des O-mannosylglycanes Difetto della sintesi degli O-mannosilglicani Disorder of O-mannosylglycan synthesis Disorder of O-mannosylglycan synthesis Störung der O-Mannosyl-Glykan-Synthese Trastornos de la síntesis del O-manosilo glicano hrdo:pat_id_21383 neant E77.8 309505 group of phenomes Anomalie de synthèse des fucoglycosanes Difetto della sintesi dei fucoglicosani Disorder of fucoglycosan synthesis Disorder of fucoglycosan synthesis Störung der Fukosyl-Glykosan-Synthese Trastornos de la síntesis de fucoglucosanos hrdo:pat_id_21384 neant E77.8 309515 group of phenomes Anomalie de la glycosylation des glycosphingolipides et des protéines à ancres GPI Difetto della glicosilazione delle proteine GPI-ancorate e dei glicosfingolipidi Disorder of glycosphingolipid and GPI-anchored proteins glycosylation Glykosylierung-Störung der Glykosphingolipide und GPI-Anker-Proteine Trastornos de la glicosilación de glicoesfingolípidos y del anclaje GPI Anomalie de la glycosylation des glycosphingolipides et des protéines à ancres glycosylphosphatidylinositol Difetto della glicosilazione dei glicosfingolipidi e delle proteine ancorate al glicosilfosfatidilinositolo Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation Störung der Glykosylierung der Glykosphingolipide und des Glycosyl-Phosphatidylinositol-Ankers Trastorno de la glicosilación de glicoesfingolípidos y del anclaje glicosilfosfatidilinositol. hrdo:pat_id_21385 neant E77.8 309526 group of phenomes Anomalies multiples de la glycosylation Difetto della glicosilazione multipla Disorder of multiple glycosylation Disorder of multiple glycosylation Störung der multiplen Glykosylierung Trastornos de la glicosilación múltiple hrdo:pat_id_21386 neant E77.8 309568 group of phenomes Anomalie de COG COG-Komplex-Defekt Defect in COG complex Defecto en el complejo COG Difetto di COG Anomalie du complexe oligomérique du Golgi Defect in conserved oligomeric Golgi complex Defect in conserved oligomeric Golgi complex Defecto en el complejo oligomérico conservado de Golgi Difetto del complesso oligomerico conservato del Golgi Störung des konservierten oligomeren Golgi-Komplex hrdo:pat_id_21387 neant E77.8 309778 group of phenomes Anomalie de la V-ATPase Defect in V-ATPase Defect in V-ATPase Defecto de la V-ATPasa Difetto di V-ATPasi V-ATPase-Defekt hrdo:pat_id_21388 215100 neant Q77.3 309789 etiological subtype Chondrodysplasia punctata, rhizomele, Typ 1 Chondrodysplasie ponctuée rhizomélique type 1 Condrodisplasia punctata rizomélica tipo 1 Condrodisplasia puntata rizomelica, tipo 1 Rhizomelic chondrodysplasia punctata type 1 Rhizomelic chondrodysplasia punctata type 1 hrdo:pat_id_21389 222765 neant Q77.3 309796 etiological subtype Chondrodysplasia punctata, rhizomele, Typ 2 Chondrodysplasie ponctuée rhizomélique type 2 Condrodisplasia punctata rizomélica tipo 2 Condrodisplasia puntata rizomelica, tipo 2 Rhizomelic chondrodysplasia punctata type 2 Rhizomelic chondrodysplasia punctata type 2 hrdo:pat_id_2139 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 242500 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Ichthyosis+harlequin+OR+harlequin+fetus%5Btw%5D Q80.4 457 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 HI HI HI HI Ichthyose, kongenitale, Typ Harlequin Ichthyosis congenita vom Harlequin Typ Ichthyosis congenita, Harlekin Typ Ichthyosis congenita, harlequin type Ichthyosis fetalis vom Harlekin Typ Ichthyosis fetalis, Harlequin type Ichtyose arlequin Ichtyose congénitale type foetus Arlequin Ictiosis congénita tipo arlequin Ictiosis fetal tipo arlequín Harlekin-Ichthyosis Harlequin ichthyosis Ichtyose harlequin Ictiose tipo Harlequim Ictiosis arlequín Ittiosi "Arlecchino" hrdo:pat_id_21390 600121 neant Q77.3 309803 etiological subtype Chondrodysplasia punctata, rhizomele, Typ 3 Chondrodysplasie ponctuée rhizomélique type 3 Condrodisplasia punctata rizomélica tipo 3 Condrodisplasia puntata rizomelica, tipo 3 Rhizomelic chondrodysplasia punctata type 3 Rhizomelic chondrodysplasia punctata type 3 hrdo:pat_id_21391 309810 group of phenomes Anomalie de l'alpha-, bêta- et omega-oxidation péroxisomales Difetto di alfa-, beta- e omega-ossidazione Disorder of peroxisomal alpha-, beta- and omega-oxidation Disorder of peroxisomal alpha-, beta- and omega-oxidation Störung der peroxisomalen Alpha-, Beta- und Omegaoxidation Trastornos de la alfa-, beta- y omega- oxidación peroxisomal hrdo:pat_id_21392 neant E80 309813 group of phenomes Difetto del metabolismo della porfirina e dell'eme Disorder of porphyrin and haem metabolism Disorder of porphyrin and haem metabolism Porphyrin- und Häm-Stoffwechselstörung Trastornos del metabolismo de las porfirinas y del hemo Trouble du métabolisme de la porphyrine et de l'hème hrdo:pat_id_21393 309816 group of phenomes Bilirubin-Stoffwechselstörung Difetto del metabolismo e dell'escrezione di bilirubina Disorder of bilirubin metabolism and excretion Disorder of bilirubin metabolism and excretion Trastornos del metabolismo y la excreción de la bilirrubina Trouble du métabolisme et de l'excrétion de la bilirubine hrdo:pat_id_21394 309819 group of phenomes Difetto del metabolismo della pterina Disorder of pterin metabolism Disorder of pterin metabolism Pterin-Stoffwechselstörung Trastornos del metabolismo de la pterina Trouble du métabolisme des ptérines hrdo:pat_id_21395 309824 group of phenomes Anomlie de transport et d'absorption des métabolites Difetto del trasporto e dell'assorbimento dei metaboliti Disorder of metabolite absorption and transport Disorder of metabolite absorption and transport Metabolitenstoffwechsel- und Transportstörungen Trastornos de absorción y transporte de metabolitos hrdo:pat_id_21396 309827 group of phenomes Anomalie d'absorption et de transport des vitamines et cofacteurs non protéiques Difetto del trasporto e dell'assorbimento delle vitamine e del cofattore non proteico Disorder of vitamin and non-protein cofactor absorption and transport  Disorder of vitamin and non-protein cofactor absorption and transport  Trastornos de absorción y transporte de vitaminas y del cofactor no protéico Vitamin- und nicht-Protein Kofaktor-Stoffwechsel- und Transportstörungen hrdo:pat_id_21397 309830 group of phenomes Anomalie de synthèse des catécholamines Difetto della sintesi delle catecolamine Disorder of catecholamine synthesis Disorder of catecholamine synthesis Katecholaminsynthesedefekt Trastornos de la síntesis de catecolaminas hrdo:pat_id_21398 309833 group of phenomes Anomalie du métabolisme et du transport des autres vitamines et cofacteurs Difetto del trasporto e del metabolismo delle altre vitamine e dei cofattori Disorder of other vitamins and cofactors metabolism and transport Disorder of other vitamins and cofactors metabolism and transport Trastornos del metabolismo y transporte de otras vitaminas y cofactores Weitere Vitamin- und Kofaktor-Stoffwechsel- und Transportstörungen hrdo:pat_id_21399 neant E83 309836 group of phenomes Mineralstofftransportstörungen Anomalie de l'absorption et du transport des minéraux Difetto del trasporto e dell'assorbimento dei minerali Disorder of mineral absorption and transport  Disorder of mineral absorption and transport  Mineralstoffabsorptionsstörungen Trastornos de absorción y transporte de minerales hrdo:pat_id_2140 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 258840 2272 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Clayton Smith-Donnai syndrome Clayton-Smith-Donnai, síndrome de Clayton-Smith-Donnai-Syndrom Sindrome di Clayton Smith-Donnai Syndrome de Clayton Smith-Donnai Síndrome de Clayton-Smith-Donnai Síndrome de Clayton-Smith-Donnai Ichthyose - konische Finger - Mittellinien-Rinne Ichthyosis - oral and digital anomalies Ichtyose - doigts fusiformes - sillon labial médian Ictiose - dedos fusiformes - fosseta mediana no lábio inferior Ictiosis - dedos fusiformes - fisura labial media Ittiosi - anomalie orali e digitali hrdo:pat_id_21400 neant E83.0 309839 group of phenomes Difetto del metabolismo del rame Disorder of copper metabolism Disorder of copper metabolism Kupfer-Stoffwechselstörung Trastornos del metabolismo del cobre Trouble du métabolisme du cuivre hrdo:pat_id_21401 neant E83.1 309842 group of phenomes Anomalie du transport et du métabolisme du fer Difetto del trasporto e del metabolismo del ferro Disorder of iron metabolism and transport Disorder of iron metabolism and transport Eisen-Stoffwechsel- und Transportstörungen Trastornos del metabolismo y del transporte del hierro hrdo:pat_id_21402 neant E83.2 309845 group of phenomes Anomalie du métabolisme du zinc Difetto del metabolismo dello zinco Disorder of zinc metabolism Disorder of zinc metabolism Trastornos del metabolismo del cinc Zink-Stoffwechselstörung hrdo:pat_id_21403 neant E83.4 309848 group of phenomes Anomalie du transport du magnésium Difetto del trasporto del magnesio Disorder of magnesium transport Disorder of magnesium transport Magnesiumtransport-Störung Trastornos de transporte del magnesio hrdo:pat_id_21404 neant E83.8 309851 group of phenomes Anomalie du transport du manganèse Difetto del trasporto del manganese Disorder of manganese transport Disorder of manganese transport Mangantransport-Störung Trastornos de transporte del manganeso hrdo:pat_id_21405 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 613280 neant 309854 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome Sindrome cirrosi-distonia-policitemia-ipermagnesemia Syndrome de cirrhose-dystonie-polycythémie-hypermanganésémie Síndrome de cirrosis - distonía - policitemia - hipermanganesemia Zirrhose-Dystonie-Polyzythämie-Hypermagnesiämie-Syndrom hrdo:pat_id_21407 310050 group of phenomes Acquired immunodeficiency Acquired immunodeficiency Déficit immunitaire acquis Immundefekt, erworbener Immunodeficienza acquisita Inmunodeficiencia adquirida hrdo:pat_id_2141 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 146800 D053560 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Ichthyosis+bullosa%5Btw%5D+Siemens+OR+Ichthyosis+exfoliativa Q80.8 455 254169002 C0432306 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Ichthyosis bullosa of Siemens Ichthyosis exfoliativa Ichtyose bulleuse de Siemens Ictiose exfoliativa Ictiosis exfoliativa Ittiosi esfoliativa SEI SEI SEI SEI SEI Ichthyose, epidermolytische superfizielle Ichtyose épidermolytique superficielle Ictiose bolhosa de Siemens Ictiosis epidermolítica superficial Ittiosi epidermolitica superficiale Superficial epidermolytic ichthyosis hrdo:pat_id_2142 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 308205 C536085 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28ichthyosis+follicularis+atrichia+photophobia%29+OR+IFAP 2273 C1839988 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X Sporadic Sporadic Sporadica Sporadique Sporadisch X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown IFAP syndrome IFAP, síndrome Ichthyosis follicularis - atrichia - photophobia Ichtyose folliculaire - atrichie - photophobie Ictiosis folicular - atriquia - fotofobia Ittiosi follicolare - atrichia - fotofobia Sindrome IFAP Syndrome IFAP Síndrome IFAP Síndrome IFAP Ichthyosis follicularis - Alopezie - Photophobie Ichthyosis follicularis - alopecia - photophobia Ichtyose folliculaire - alopécie - photophobie Ictiosis folicular - alopecia - fotofobia Ittiosi follicolare - alopecia - fotofobia Síndrome ictiose folicular - atriquia - fotofobia hrdo:pat_id_2143 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 242520 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=ichthyosis+hepatosplenomegaly+cerebellar+degeneration Q87.8 2274 403779009 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dykes-Markes-Harper syndrome Dykes-Markes-Harper, síndrome de Dykes-Markes-Harper-Syndrom Sindrome di Dykes-Markes-Harper Syndrome de Dykes-Markes-Harper Síndrome de Dykes-Markes-Harper Ichthyose - Hepatosplenomegalie - zerebelläre Degeneration Ichthyosis - hepatosplenomegaly - cerebellar degeneration Ichtyose - hépatosplénomégalie - dégénérescence cérébelleuse Ictiose - hepatoesplenomegalia - degenerescência cerebelosa Ictiosis - hepatoesplenomegalia - degeneración cerebelosa Ittiosi - epatosplenomegalia - degenerazione cerebellare hrdo:pat_id_21449 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 614487 neant G11.8 313772 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 AFG3L2-associated spastic ataxia-neuropathy syndrome Ataxia espástica autosómica recesiva 5 Ataxie spastique autosomal récessive 5 Autosomal recessive spastic ataxia 5 SPAX5 SPAX5 SPAX5 Syndrome d'ataxie spastique-neuropathie associé à AFG3L2 Síndrome de ataxia espástica-neuropatía asociado a AFG3L2 Síndrome de neuropatía - ataxia espástica asociado a AFG3L2 Early-onset spastic ataxia-neuropathy syndrome Early-onset spastic ataxia-neuropathy syndrome Early-onset spastic ataxia-neuropathy syndrome Early-onset spastic ataxia-neuropathy syndrome Syndrome d'ataxie spastique-neuropathie précoce Síndrome de neuropatía - ataxia espástica de aparición temprana hrdo:pat_id_21450 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q93.5 313781 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 20p subtelomeric deletion syndrome Del(20)(p13) Del(20)(p13) Del(20)(p13) Monosomie 20p13 Monosomy 20p13 Monosomía 20p13 Syndrome de délétion subtélomérique 20p Síndrome de deleción subtelomérica 20p 20p13 microdeletion syndrome 20p13 microdeletion syndrome 20p13 microdeletion syndrome 20p13 microdeletion syndrome Syndrome de microdélétion 20p13 Síndrome de microdeleción 20p13 hrdo:pat_id_21451 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 251255 neant 313795 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Jawad syndrome Jawad syndrome Jawad syndrome Jawad syndrome Syndrome de Jawad Síndrome de Jawad hrdo:pat_id_21452 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 614979 neant 313800 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Optic nerve edema-splenomegaly syndrome Optic nerve edema-splenomegaly syndrome Optic nerve edema-splenomegaly syndrome Optic nerve edema-splenomegaly syndrome Syndrome d'oedème du nerf optique-splénomégalie Síndrome de edema del nervio óptico-esplenomegalia hrdo:pat_id_21453 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 221820 neant 313808 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ALSP ALSP ALSP Autosomal dominant leukoencephalopathy with neuroaxonal spheroids HDLS HDLS HDLS Hereditary diffuse leukoencephalopathy with spheroids Leucodistrofia ortocromática pigmentaria Leucodystrophie orthochromatique pigmentaire Leucoencefalopatía autosómica dominante con esferoides neuroaxonales Leucoencefalopatía difusa hereditaria con esferoides Leucoencéphalopathie avec sphéroïdes neuro-axonaux POLD POLD POLD Pigmentary orthochromatic leukodystrophy Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia Adulte Leukoenzephalopathie mit axonalen Sphäroiden und pigmentierter Glia Leucoencefalopatía de aparición en adultos con esferoides neuroaxonales y células gliales pigmentadas Leucoencéphalopathie de l'adulte avec spheroides axonaux et cellules gliales pigmentées hrdo:pat_id_21456 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 612199 neant H35.0 313838 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CRMCC CRMCC CRMCC Cerebroretinal microangiopathy with calcifications and cysts Microangiopathie cérébro-rétinienne avec calcifications et kystes Microangiopatía cerebrorretiniana con calcificaciones y quistes Coats plus syndrome Coats plus syndrome Coats plus syndrome Coats plus syndrome Syndrome Coats plus Síndrome de Coats plus hrdo:pat_id_21457 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614564 neant 313846 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome Telangiectasia cutánea familiar y síndrome de predisposición al cáncer orofaríngeo Télangiectasie cutanée familiale et syndrome de predisposition au cancer oro-pharyngé hrdo:pat_id_21458 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614559 neant 313850 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficiencia de aconitasa mitocondrial Déficit de aconitasa mitocondrial Défict en aconitase mitochondriale Mitochondrial aconitase deficiency Degeneración cerebelosa-retiniana infantil Dégénérescence cérébello-rétinienne infantile Infantile cerebellar-retinal degeneration Infantile cerebellar-retinal degeneration Infantile cerebellar-retinal degeneration Infantile cerebellar-retinal degeneration hrdo:pat_id_21459 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614592 neant 313855 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia ósea letal perinatal con incurvación de las extremidades Dysplasie osseuse avec incurvation des membres périnatale létale Perinatal lethal bent bone dysplasia Displasia ósea ligada a FGFR2 con incurvación de las extremidades Dysplasie osseuse avec incurvation des membres liée à FGFR2 FGFR2-related bent bone dysplasia FGFR2-related bent bone dysplasia FGFR2-related bent bone dysplasia FGFR2-related bent bone dysplasia hrdo:pat_id_21460 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q93.5 313884 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Del(12)(p12.1) Del(12)(p12.1) Del(12)(p12.1) Monosomie 12p12.1 Monosomy 12p12.1 Monosomía 12p12.1 12p12.1 microdeletion syndrome 12p12.1 microdeletion syndrome 12p12.1 microdeletion syndrome 12p12.1 microdeletion syndrome Syndrome de microdélétion 12p12.1 Síndrome de microdeleción 12p12.1 hrdo:pat_id_21461 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 313892 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Retraso del desarrollo y del habla por deficiencia de SOX5 Developmental and speech delay due to SOX5 deficiency Developmental and speech delay due to SOX5 deficiency Developmental and speech delay due to SOX5 deficiency Developmental and speech delay due to SOX5 deficiency Retard de développement et de language par deficit en SOX5 Retraso del desarrollo y del habla por déficit de SOX5 hrdo:pat_id_21462 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q45.2 313906 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown morphological anomaly <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Kyste congénital vrai du pancréas Kyste pancréatique congénital néonatal Neonatal congenital pancreatic cyst Quiste pancreático congénito neonatal Quiste verdadero congénito del páncreas True congenital pancreatic cyst Congenital pancreatic cyst Congenital pancreatic cyst Congenital pancreatic cyst Congenital pancreatic cyst Kyste pancréatique congénital Quiste pancreático congénito hrdo:pat_id_21464 neant C16 313920 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Carcinoma gástrico asociado a EBV Carcinome gastrique associé à l'EBV EBV-associated gastric carcinoma EBVaGC EBVaGC EBVaGC Carcinoma gástrico asociado al virus de Epstein-Barr Carcinome gastrique associé au virus Epstein Barr Epstein-Barr virus-associated gastric carcinoma Epstein-Barr virus-associated gastric carcinoma Epstein-Barr virus-associated gastric carcinoma Epstein-Barr virus-associated gastric carcinoma hrdo:pat_id_21465 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 313936 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 'Síndrome de nevo epidérmico papuloso con capas de células basales ''en horizonte''' Papular epidermal nevi with skyline basal cell layers syndrome Syndrome de nevi épidermiques papulaires avec couche basale en palissade PENS syndrome PENS syndrome PENS syndrome PENS syndrome Syndrome PENS Síndrome PENS hrdo:pat_id_21466 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q92.3 313947 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dup(2)(q23.1) Dup(2)(q23.1) Dup(2)(q23.1) Trisomie 2q23.1 Trisomy 2q23.1 Trisomía 2q23.1 2q23.1 microduplication syndrome 2q23.1 microduplication syndrome 2q23.1 microduplication syndrome 2q23.1 microduplication syndrome Syndrome de microduplication 2q23.1 Síndrome de microduplicación 2q23.1 hrdo:pat_id_21467 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 314002 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dinno syndrome Syndrome de Dinno Síndrome de Dinno Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome Syndrome de contractures-pterygium colli-micrognathie-mamelons hypoplasiques Síndrome de contracturas-cuello palmeado-micrognatia-pezones hipoplásicos hrdo:pat_id_21468 neant H16.3 314017 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Idiopathic linear interstitial keratitis Idiopathic linear interstitial keratitis Idiopathic linear interstitial keratitis Idiopathic linear interstitial keratitis Kératite interstitielle linéaire idiopathique Queratitis intersticial lineal idiopática hrdo:pat_id_2147 242530 C536274 2278 C1855787 malformation syndrome Passwell-Goodman-Siprkowski syndrome Passwell-Goodman-Siprkowski-Syndrom Passwell-Goodman-Ziprkowski, síndrome de Sindrome di Passwell-Goodman-Siprkowski Syndrome de Passwell-Goodman-Siprkowski Síndrome de Passwell-Goodman-Ziprkowski Ichthyose - geistige Retardierung - Kleinwuchs - Niereninsuffizienz Ichthyosis - intellectual deficit - dwarfism - renal impairment Ichtyose - déficit intellectuel - nanisme - anomalie rénale Ictiose - atraso mental - nanismo - disfunção renal Ictiosis - déficit intelectual - enanismo - anomalía renal Ittiosi - ritardo mentale - nanismo - anomalie renali hrdo:pat_id_21470 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 314022 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Familial fundic gland polyposis with gastric cancer GAPPS GAPPS GAPPS Poliposis familiar de glándulas fúndicas con cáncer gástrico Polypose familiale des glandes fundiques avec cancer gastrique Adenocarcinoma gástrico y poliposis proximal del estómago Adénocarcinome gastrique et polypose proximale de l'estomac Gastric adenocarcinoma and proximal polyposis of the stomach Gastric adenocarcinoma and proximal polyposis of the stomach Gastric adenocarcinoma and proximal polyposis of the stomach Gastric adenocarcinoma and proximal polyposis of the stomach hrdo:pat_id_21471 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 314029 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 High bone mass OI OI avec augmentation de la masse osseuse OI con aumento de la masa ósea High bone mass osteogenesis imperfecta High bone mass osteogenesis imperfecta High bone mass osteogenesis imperfecta High bone mass osteogenesis imperfecta Osteogénesis imperfecta con aumento de la masa ósea Ostéogenèse imparfaite avec augmentation de la masse osseuse hrdo:pat_id_21472 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q92.3 314034 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dup(7)(p22.1) Dup(7)(p22.1) Dup(7)(p22.1) Trisomie 7p22.1 Trisomy 7p22.1 Trisomía 7p22.1 7p22.1 microduplication syndrome 7p22.1 microduplication syndrome 7p22.1 microduplication syndrome 7p22.1 microduplication syndrome Syndrome de microduplication 7p22.1 Síndrome de microduplicación 7p22.1 hrdo:pat_id_21474 314041 malformation syndrome Hábito marfanoide - hernia inguinal - edad ósea avanzada Marfanoid habitus - inguinal hernia - advanced bone age Marfanoid habitus - inguinal hernia - advanced bone age Marfanoid habitus - inguinal hernia - advanced bone age Marfanoid habitus - inguinal hernia - advanced bone age Syndrome marfanoïde - hernie inguinale - viellissement osseux prématuré hrdo:pat_id_21475 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614924 neant 314051 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 LTBL LTBL LTBL Leucoencefalopatía - anomalías del tálamo y tallo cerebral - elevación del lactato Leucoencéphalopathie - anomalies du thalamus et du tronc cérébral - hyperlactatémie Leukoencephalopathy - thalamus and brainstem anomalies - high lactate Leukoencephalopathy - thalamus and brainstem anomalies - high lactate Leukoencephalopathy - thalamus and brainstem anomalies - high lactate Leukoencephalopathy - thalamus and brainstem anomalies - high lactate hrdo:pat_id_21476 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614616 neant P78.3 314373 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Chronic diarrhea due to guanylate cyclase 2C overactivity Chronic diarrhea due to guanylate cyclase 2C overactivity Chronic diarrhea due to guanylate cyclase 2C overactivity Chronic diarrhea due to guanylate cyclase 2C overactivity Diarrea crónica por hiperactividad de la guanilato-ciclasa 2C Diarrhée chronique par hyperactivité de la guanylate cyclase 2C hrdo:pat_id_21477 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614665 neant P76.0 314376 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Iléus méconial par déficit en guanylate cyclase 2C Meconium ileus due to guanylate cyclase 2C deficiency Obstrucción intestinal en el recién nacido por deficiencia de guanilato-ciclasa 2C Íleo meconial por deficiencia de guanilato-ciclasa 2C Íleo meconial por déficit de guanilato-ciclasa 2C Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency Obstrucción intestinal en el recién nacido por déficit de guanilato-ciclasa 2C Occlusion intestinale du nouveau-né par déficit en guanylate cyclase 2C hrdo:pat_id_21478 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614653 neant G60.8 314381 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Disautonomía familiar con contracturas Dysautonomie familiale avec contractures Familial dysautonomia with contractures HSAN6 HSAN6 HSAN6 NSAH6 Hereditary sensory and autonomic neuropathy type 6 Hereditary sensory and autonomic neuropathy type 6 Hereditary sensory and autonomic neuropathy type 6 Hereditary sensory and autonomic neuropathy type 6 Neuropathie sensitive et autonomique type 6 Neuropatía sensitiva y autonómica hereditaria tipo 6 hrdo:pat_id_21479 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q99.8 314389 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dup(X)(q12-q13.3) Dup(X)(q12-q13.3) Dup(X)(q12-q13.3) Syndrome de duplication Xq12-q13.3 Síndrome de duplicación Xq12-q13.3 Xq12-q13.3 duplication syndrome Xq12-q13.3 duplication syndrome Xq12-q13.3 duplication syndrome Xq12-q13.3 duplication syndrome hrdo:pat_id_21480 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614813 neant 314394 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SOFT syndrome Syndrome SOFT Síndrome SOFT Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Syndrome de petite taille-onychodysplasie-dysmorphie faciale-hypotrichose Síndrome de estatura baja-onicodisplasia-dismorfismo facial-hipotricosis hrdo:pat_id_21481 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 614675 neant 314399 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anemia aplásica y mielodisplasia autosómicas dominantes Anémie aplasique et myélodysplasie autosomiques dominantes Autosomal dominant aplastic anemia and myelodysplasia Aplasia y mielodisplasia autosómicas dominantes Aplasie et myélodysplasie autosomiques dominantes Autosomal dominant aplasia and myelodysplasia Autosomal dominant aplasia and myelodysplasia Autosomal dominant aplasia and myelodysplasia Autosomal dominant aplasia and myelodysplasia hrdo:pat_id_21482 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 604121 neant 314404 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ADCA-DN ADCA-DN ADCA-DN Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome Syndrome d'ataxie cérébelleuse autosomique dominante-surdité-narcolepsie Síndrome de ataxia cerebelosa autosómica dominante-sordera-narcolepsia Cerebellar ataxia-deafness-narcolepsy syndrome Cerebellar ataxia-deafness-narcolepsy syndrome Cerebellar ataxia-deafness-narcolepsy syndrome Cerebellar ataxia-deafness-narcolepsy syndrome Syndrome d'ataxie cérébelleuse-surdité-narcolepsie Síndrome de ataxia cerebelosa-sordera-narcolepsia hrdo:pat_id_21483 Variabel Variabile Variable Variable Variable Variable Variável 314419 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Ameloblastoma Ameloblastoma Ameloblastoma Ameloblastoma Ameloblastoma Améloblastome hrdo:pat_id_21484 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 314422 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Ameloblastic carcinoma Ameloblastic carcinoma Ameloblastic carcinoma Ameloblastic carcinoma Carcinoma ameloblástico Carcinome améloblastique hrdo:pat_id_21485 314425 group of phenomes Rare odontologic tumor Rare odontologic tumor Rare odontologic tumor Rare odontologic tumor Tumeur odontologique rare Tumor odontológico raro hrdo:pat_id_21486 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 314432 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Spigelian hernia-cryptorchidism syndrome Spigelian hernia-cryptorchidism syndrome Spigelian hernia-cryptorchidism syndrome Spigelian hernia-cryptorchidism syndrome Syndrome de cryptorchidie-hernie de Spiegel Síndrome de hernia de Spiegel-criptorquidia hrdo:pat_id_21487 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 314451 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Demons-Meigs syndrome Syndrome de Demons-Meigs Síndrome de Demons-Meigs Meigs syndrome Meigs syndrome Meigs syndrome Meigs syndrome Syndrome de Meigs Síndrome de Meigs hrdo:pat_id_21488 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 314459 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Pseudo-Demons-Meigs syndrome Syndrome de pseudo-Demons-Meigs Síndrome pseudo-Demons-Meigs Pseudo-Meigs syndrome Pseudo-Meigs syndrome Pseudo-Meigs syndrome Pseudo-Meigs syndrome Syndrome de pseudo-Meigs Síndrome pseudo-Meigs hrdo:pat_id_21489 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 314466 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atypical Demons-Meigs syndrome Syndrome de Demons-Meigs atypique Síndrome de Demons-Meigs atípico Atypical Meigs syndrome Atypical Meigs syndrome Atypical Meigs syndrome Atypical Meigs syndrome Syndrome de Meigs atypique Síndrome de Meigs atípico hrdo:pat_id_21490 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 314473 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Fibroma ovárico Fibrome ovarien Ovarian fibroma Ovarian fibroma Ovarian fibroma Ovarian fibroma hrdo:pat_id_21491 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 314478 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Fibrotecoma ovárico Fibrothécome ovarien Ovarian fibrothecoma Ovarian fibrothecoma Ovarian fibrothecoma Ovarian fibrothecoma hrdo:pat_id_21492 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 614881 neant G12.2 314485 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Amyotrophie spinale distale autosomique récessive type 5 Atrofia muscular espinal distal autosómica recesiva tipo 5 Atrophie musculaire spinale distale autosomique récessive type 5 Autosomal recessive distal spinal muscular atrophy type 5 Young adult-onset dHMN dHMN de aparición en el adulto joven dHMN de l'adulte jeune dSMA5 dSMA5 dSMA5 Neuropathie motrice distale héréditaire de l'adulte jeune Neuropatía motora distal hereditaria de aparición en el adulto joven Young adult-onset distal hereditary motor neuropathy Young adult-onset distal hereditary motor neuropathy Young adult-onset distal hereditary motor neuropathy Young adult-onset distal hereditary motor neuropathy hrdo:pat_id_21494 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 611174 neant 314555 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hamamy syndrome Syndrome d'Hamamy Síndrome de Hamamy Craniofacial dysplasia-osteopenia syndrome Craniofacial dysplasia-osteopenia syndrome Craniofacial dysplasia-osteopenia syndrome Craniofacial dysplasia-osteopenia syndrome Syndrome de dysplasie craniofaciale et ostéopénie Síndrome de displasia craneofacial-osteopenia hrdo:pat_id_21495 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 314566 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Apraxie verbale primaire progressive PPAOS PPAOS PPAOS Apraxia progresiva primaria del habla Apraxie primaire progressive de la parole Primary progressive apraxia of speech Primary progressive apraxia of speech Primary progressive apraxia of speech Primary progressive apraxia of speech hrdo:pat_id_21496 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 314572 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Autosomal recessive leukoencephalopathy with ischemic stroke-retinitis pigmentosa syndrome Autosomal recessive leukoencephalopathy-retinitis pigmentosa syndrome Autosomal recessive leukoencephalopathy-retinitis pigmentosa syndrome Autosomal recessive leukoencephalopathy-retinitis pigmentosa syndrome Syndrome autosomique récessif de leucoencéphalopathie avec AVC ischémique-rétinite pigmentaire Síndrome de leucoencefalopatía autosómico recesivo con accidente isquémico y retinosis pigmentaria hrdo:pat_id_21497 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 314575 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Intellectual deficit-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome Intellectual deficit-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome Intellectual deficit-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome Intellectual deficit-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome Syndrome de déficit intellectuel-hypotonie-brachycéphalie-sténose du pylore-cryptorchidie Síndrome de déficit intelectual-hipotonía-braquicefalia-estenosis pilórica-criptorquidia hrdo:pat_id_21498 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q87.3 314585 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 15q overgrowth syndrome 15q overgrowth syndrome 15q overgrowth syndrome 15q overgrowth syndrome Gigantisme 15q Síndrome de sobrecrecimiento 15q hrdo:pat_id_21499 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614846 neant Q99.8 314588 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch etiological subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Tetrasomy 15(q25-qter) Tetrasomy 15q26 Tetrasomía 15(q25-qter) Tetrasomía 15q26 Tétrasomie 15(q25-qter) Tétrasomie 15q26 Distal tetrasomy 15q Distal tetrasomy 15q Distal tetrasomy 15q Distal tetrasomy 15q Tetrasomía distal 15q Tétrasomie 15q distale hrdo:pat_id_215 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 255800 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Schwartz-Jampel+syndrome%5BText+Word%5D G71.1 800 29145002 C0036391 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Aberfeld syndrome Burton disease Burton skeletal dysplasia Burton syndrome Catel-Hempel syndrome Chondrodystrophie, myotone Condrodistrofia miotonica Condrodistrofia miotónica Condrodistrofia miotónica Disostosi encondrale metaepifisaria, tipo Catel-Hempel Disostosis endocondral metaepifisaria, tipo Catel-Hempel Displasia esquelética de Burton Displasia scheletrica di Burton Distrofia osteo-condro-muscolare Distrofia osteocondromuscular Dysostosis enchondralis metaepiphysaria, Catel-Hempel type Dysplasie squellettique de Burton Dystrophy ostéo-chondro-musculaire Enfermedad de Burton Maladie de Burton Malattia di Burton Miopatia miotonica, nanismo, condrodisplasia, anomalie oculari e facciali Miopatía miotónica, enanismo, condrodistrofia, anomalías oculares y faciales Myotonic chondrodystrophy Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies Myotonie chondrodystrophique Osteo-chondro-muscular dystrophy SJS SJS SJS1 SJS1 SJS1 Schwartz-Jampel syndrome type 1 Schwartz-Jampel-Aberfeld syndrome Sindrome di Aberfeld Sindrome di Burton Sindrome di Catel-Hempel Sindrome di Schwartz-Jampel, tipo 1 Sindrome di Schwartz-Jampel-Aberfeld Syndrome d'Aberfeld Syndrome de Burton Syndrome de Catel-Hempel Syndrome de Schwartz-Jampel type 1 Syndrome de Schwartz-Jampel-Aberfeld Síndrome de Aberfeld Síndrome de Burton Síndrome de Catel-Hempel Síndrome de Schwartz-Jampel tipo 1 Síndrome de Schwartz-Jampel-Aberfeld Schwartz-Jampel syndrome Schwartz-Jampel-Syndrom Sindrome di Schwartz-Jampel Syndrome de Schwartz-Jampel Síndrome de Schwartz-Jampel Síndrome de Schwartz-Jampel hrdo:pat_id_21500 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 604213 neant 314597 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Chudley-McCullough syndrome Chudley-McCullough syndrome Chudley-McCullough syndrome Chudley-McCullough syndrome Syndrome de Chudley-McCullough Síndrome de Chudley-McCullough hrdo:pat_id_21501 Variabel Variabile Variable Variable Variable Variable Variável 611390 neant G11.8 314603 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ARSAL ARSAL ARSAL Ataxia espástica autosómica recesiva tipo 3 Ataxie spastique autosomique recessive type 3 Autosomal recessive spastic ataxia type 3 SPAX3 SPAX3 SPAX3 Ataxia espástica autosómica recesiva con leucoencefalopatía Ataxie spastique autosomique récessive avec leucoencéphalopathie Autosomal recessive spastic ataxia with leukoencephalopathy Autosomal recessive spastic ataxia with leukoencephalopathy Autosomal recessive spastic ataxia with leukoencephalopathy Autosomal recessive spastic ataxia with leukoencephalopathy hrdo:pat_id_21502 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 314613 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch particular clinical situation in a disease or syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Growing teratoma syndrome Growing teratoma syndrome Growing teratoma syndrome Growing teratoma syndrome Syndrome du tératome croissant Síndrome del teratoma creciente hrdo:pat_id_21504 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 314621 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown DPG-plus syndrome Duplicación hipofisaria Duplication de le glande pituitaire Duplication of the pituitary gland-plus syndrome Hypophyseal duplication Syndrome de duplication de l'hypophyse Síndrome de DPG-plus Síndrome de duplicación de la glándula hipofisaria-plus Duplicación de la glándula hipofisaria Duplication de l'hypophyse Duplication of the pituitary gland Duplication of the pituitary gland Duplication of the pituitary gland Duplication of the pituitary gland hrdo:pat_id_21505 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 614706 neant E75.4 314629 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CLN11 disease CLN11 disease CLN11 disease CLN11 disease Enfermedad CLN11 Maladie CLN11 hrdo:pat_id_21506 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant E75.4 314632 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CLN12 disease Maladie CLN12 CLN12 disease CLN12 disease CLN12 disease Enfermedad CLN12 Parkinsonim due to ATP13A2 deficiency Parkinsonism par déficit en ATP13A2 hrdo:pat_id_21507 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614667 neant 314637 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 COXPD10 COXPD10 COXPD10 Combined OXPHOS defect type 10 Combined OXPHOS deficiency type 10 Combined oxidative phosphorylation defect type 10 Defecto OXPHOS combinado tipo 10 Defecto combinado de la fosforilación oxidativa tipo 10 Déficit OXPHOS combinado tipo 10 Déficit OXPHOS combiné type 10 Déficit combiné de la phosphorylation oxydative type 10 Miocardiopatía hipertrófica mitocondrial con acidosis láctica por deficiencia de MTO1 Cardiomyopathie hypertrophique mitichondriale avec acidose lactique par déficit en MTO1 Hypertrophe Kardiomyopathie mit Laktatazidose bei MTO1-Mangel, mitochondrial Miocardiopatía hipertrófica mitocondrial con acidosis láctica por déficit de MTO1 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency hrdo:pat_id_21508 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614756 neant 314647 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Ataxia cerebelosa no progresiva con déficit intelectual Ataxie cérébelleuse non progressive avec deficit intellectuel Non progressive cerebellar ataxia with intellectual deficit Non progressive cerebellar ataxia with intellectual deficit Non progressive cerebellar ataxia with intellectual deficit Non progressive cerebellar ataxia with intellectual deficit hrdo:pat_id_21509 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 105200 neant E85.1 314652 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Amiloidosis beta2-microglobulínica autosómica dominante Amylose à bêta2-microglobuline autosomique dominante Autosomal dominant beta2-microglobulinic amyloidosis Autosomal dominant beta2-microglobulinic amyloidosis Autosomal dominant beta2-microglobulinic amyloidosis Autosomal dominant beta2-microglobulinic amyloidosis hrdo:pat_id_2151 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q87.8 2282 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso mental - baixa estatura - surdez - anomalias genitais Dysmorphie - petite taille - surdité - pseudohermaphrodisme Dysmorphism - short stature - deafness - pseudohermaphroditism Leshima-Koeda-Inagaki-Syndrom Ritardo mentale - nanismo - sordità - anomalie genitali Sindrome di Leshima-Koeda-Inagaki Syndrome de Leshima-Koeda-Inagaki Síndrome de Leshima-Koeda-Inagaki Dismorfismi - bassa statura - sordità - pseudoermafroditismo Dismorfismo - estatura baja - sordera - pseudohermafroditismo Dysmorphie - petite taille - surdité - anomalie du développement sexuel Dysmorphien - Kleinwuchs - Schwerhörigkeit - Pseudohermaphroditismus Dysmorphism - short stature - deafness - disorder of sex development Síndrome de Ieshima-Koeda-Inagaki hrdo:pat_id_21510 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q93.5 314655 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Del(5)(q31.3) Del(5)(q31.3) Del(5)(q31.3) Monosomie 5q31.3 Monosomy 5q31.3 Monosomía 5q31.3 5q31.3 microdeletion syndrome 5q31.3 microdeletion syndrome 5q31.3 microdeletion syndrome 5q31.3 microdeletion syndrome Syndrome de microdélétion 5q31.3 Síndrome de microdeleción 5q31.3 hrdo:pat_id_21511 314662 disease Segmental progressive overgrowth syndrome with fibroadipose hyperplasia Segmental progressive overgrowth syndrome with fibroadipose hyperplasia Segmental progressive overgrowth syndrome with fibroadipose hyperplasia Segmental progressive overgrowth syndrome with fibroadipose hyperplasia Syndrome de croissance segmentaire progressive avec hyperplasie fibroadipeuse Síndrome de sobrecrecimiento segmentario progresivo con hiperplasia fibroadiposa hrdo:pat_id_21512 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614727 neant E77.8 314667 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CDG syndrome type 2k CDG syndrome type IIk CDG-IIk CDG-IIk CDG-IIk CDG2k CDG2k CDG2k Syndrome CDG type 2k Syndrome CDG type IIk Síndrome CDG tipo 2k Síndrome CDG tipo IIk Syndrome TMEM165-CDG Síndrome CDG-TMEM165 TMEM165-CDG syndrome TMEM165-CDG syndrome TMEM165-CDG syndrome TMEM165-CDG syndrome hrdo:pat_id_21513 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 314679 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Syndrome de Van Maldergem Síndrome de Van Maldergem Van Maldergem syndrome Cerebro-facio-articular syndrome Cerebro-facio-articular syndrome Cerebro-facio-articular syndrome Cerebro-facio-articular syndrome Syndrome cérébro-facio-articulaire Síndrome cerebro-facio-articular hrdo:pat_id_21514 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 314684 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Lymphome primitif osseux Linfoma primario óseo Lymphome primitif des os Primary bone lymphoma Primary bone lymphoma Primary bone lymphoma Primary bone lymphoma hrdo:pat_id_21515 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 614868 neant D81.8 314689 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CID due to STK4 deficiency CID por deficiencia de STK4 CID por déficit de STK4 DIC par déficit en STK4 Inmunodeficiencia combinada por deficiencia de STK4 Combined immunodeficiency due to STK4 deficiency Combined immunodeficiency due to STK4 deficiency Combined immunodeficiency due to STK4 deficiency Combined immunodeficiency due to STK4 deficiency Déficit immunitaire combiné par déficit en STK4 Inmunodeficiencia combinada por déficit de STK4 hrdo:pat_id_21516 314697 etiological subtype Acquired porencephaly Acquired porencephaly Acquired porencephaly Acquired porencephaly Porencefalia adquirida Porencéphalie acquise hrdo:pat_id_21517 254500 neant E85.0 E85.1 E85.2 E85.3 314701 clinical subtype Amiloidosis de cadena ligera sistémica Amiloidosis inmunoglobulínica sistémica Amylose AL systémique Amylose immunoglobulinique systémique Systemic AL Amyloidosis Systemic immunoglobulinic amyloidosis Amiloidosis sistémica primaria Amylose primitive systémique Primary systemic amyloidosis Primary systemic amyloidosis Primary systemic amyloidosis Primary systemic amyloidosis hrdo:pat_id_21518 neant E85.4 314709 clinical subtype Amiloidosis de cadena ligera localizada Amiloidosis inmunoglobulínica localizada Amylose AL localisée Amylose immunoglobulinique localisée Localized AL Amyloidosis Localized immunoglobulinic amyloidosis Amiloidosis localizada primaria Amylose primitive localisée Primary localized amyloidosis Primary localized amyloidosis Primary localized amyloidosis Primary localized amyloidosis hrdo:pat_id_2152 Variabel Variabile Variable Variable Variable Variable Variável 109500 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=primary+basilar+impression Q75.8 2285 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Bull-Nixon syndrome Bull-Nixon, síndrome de Bull-Nixon-Syndrom Sindrome di Bull-Nixon Syndrome de Bull-Nixon Síndrome de Bull-Nixon Síndrome de Bull-Nixon Basilarimpression, primäre Impresión basilar primaria Impression basilaire primitive Impressão basilar primária Impronte della base del cranio Primary basilar impression hrdo:pat_id_21520 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 314718 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Síndrome de arteriopatía letal por deficiencia de FBLN4 Lethal arteriopathy syndrome due to FBLN4 deficiency Lethal arteriopathy syndrome due to FBLN4 deficiency Lethal arteriopathy syndrome due to FBLN4 deficiency Lethal arteriopathy syndrome due to FBLN4 deficiency Syndrome d'artériopathie létale par deficit en FBLN4 Síndrome de arteriopatía letal por déficit de FBLN4 hrdo:pat_id_21521 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 125400 neant 314721 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dentin dysplasia type 1 with microdontia and shape anomalies Displasia de dentina atípica por deficiencia de SMOC2 Displasia de dentina tipo 1 con microdontia y anomalías en la forma Dysplasie de la dentine type 1 avec microdontie et anomalies de forme Atypical dentin dysplasia due to SMOC2 deficiency Atypical dentin dysplasia due to SMOC2 deficiency Atypical dentin dysplasia due to SMOC2 deficiency Atypical dentin dysplasia due to SMOC2 deficiency Displasia de dentina atípica por déficit de SMOC2 Dysplasie de la dentine atypique par déficit en SMOC2 hrdo:pat_id_21523 314749 group of phenomes Enfermedad rara con el síndrome de Cushing como característica principal Maladie rare avec un syndrome de Cushing comme manifestation majeure Rare disease with Cushing syndrome as a major feature Rare disease with Cushing syndrome as a major feature Rare disease with Cushing syndrome as a major feature Rare disease with Cushing syndrome as a major feature hrdo:pat_id_21524 314753 group of phenomes Adenoma hipofisario endocrino con actividad endocrina Adenoma hipofisario funcionante Adénome hypophysaire secrétant Endocrine active pituitary adenoma Secreting pituitary adenoma Adenoma hipofisario secretor Adénome hypophysaire fonctionnel Functioning pituitary adenoma Functioning pituitary adenoma Functioning pituitary adenoma Functioning pituitary adenoma hrdo:pat_id_21525 314759 group of phenomes Adenoma hipofisario funcionante mixto Adénome hypophysaire secrétant mixte Mixed secreting pituitary adenoma Adenoma hipofisario secretor mixto Adénome hypophysaire fonctionnel mixte Mixed functioning pituitary adenoma Mixed functioning pituitary adenoma Mixed functioning pituitary adenoma Mixed functioning pituitary adenoma hrdo:pat_id_21527 314769 disease Adenoma hipofisario co-secretor de GH y PRL Adenoma hipofisario co-secretor de hormona de crecimiento y prolactina Adénome hypophysaire secrétant GH et PRL Adénome hypophysaire secrétant l'hormone de croissance et la prolactine Adénome hypophysaire somatoprolactinique GH and PRL co-secreting pituitary adenoma Growth hormone and prolactin co-secreting pituitary adenoma Somatomammotropinoma Somatomammotropinoma Somatomammotropinoma Somatomammotropinoma Somatomammotropinome Somatomamotropinoma hrdo:pat_id_21528 Variabel Variabile Variable Variable Variable Variable Variável 102200 neant 314777 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 FIPA FIPA FIPA Adenoma hipofisario aislado familiar Adénome pituitaire isolé familial Familial isolated pituitary adenoma Familial isolated pituitary adenoma Familial isolated pituitary adenoma Familial isolated pituitary adenoma hrdo:pat_id_21529 314786 histopathological subtype Adenoma hipofisario silente Adénome hypophysaire silencieux Silent pituitary adenoma Silent pituitary adenoma Silent pituitary adenoma Silent pituitary adenoma hrdo:pat_id_2153 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 147250 C537342 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Solitary+OR+fused+OR+single%5Bti%5D%29+%28median+OR+central%29+maxillary+AND+incisor%5Bti%5D+OR+smmci K00.2 2286 8654005 C1840235 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown ICMMU Incisive centrale supérieure unique Incisivo central superior único Incisivo superiore centrale unico SMMCI SMMCI SMMCI SMMCI Schneidezahn, zentraler oberer einzelner Single upper central incisor Incisive centrale maxillaire médiane unique Sindrome dell'incisivo centrale mascellare mediano solitario Solitary median maxillary central incisor syndrome Syndrom des einzelnen maxillären mittleren Schneidezahnes Síndrome de incisivo central maxilar medio único Síndrome incisivo central maxilar mediano único (SMMCI) hrdo:pat_id_21530 314790 histopathological subtype Adenoma hipofisario nulo Adénome hypophysaire non immunoréactif Null pituitary adenoma Null pituitary adenoma Null pituitary adenoma Null pituitary adenoma hrdo:pat_id_21531 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300582 neant 314795 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Estatura baja asociada a Shox Petite taille associée à SHOX Shox-related short stature Shox-related short stature Shox-related short stature Shox-related short stature hrdo:pat_id_21532 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 604271 neant 314802 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Estatura baja por deficiencia parcial del receptor de la hormona de crecimiento Estatura baja por déficit parcial del receptor de la hormona de crecimiento Petite taille par déficit en récepteur de l'hormone de croissance Short stature due to partial growth hormone receptor deficiency Estatura baja por déficit parcial de GHR Petite taille par déficit en GHR Short stature due to partial GHR deficiency Short stature due to partial GHR deficiency Short stature due to partial GHR deficiency Short stature due to partial GHR deficiency hrdo:pat_id_21533 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 604271 neant 314811 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Estatura baja por deficiencia de GHSR Estatura baja por deficiencia del receptor de secretagogos de la hormona de crecimiento Estatura baja por déficit del receptor de secretagogos de la hormona de crecimiento Petite taille par déficit en récepteur des secrétagogues de l'hormone de croissance Short stature due to growth hormone secretagogue receptor deficiency Estatura baja por déficit de GHSR Petite taille par déficit en GHSR Short stature due to GHSR deficiency Short stature due to GHSR deficiency Short stature due to GHSR deficiency Short stature due to GHSR deficiency hrdo:pat_id_21534 neant N25.8 314822 group of phenomes Acidose tubulaire rénale primitive Acidosis tubular renal primaria Primary renal tubular acidosis Primary renal tubular acidosis Primary renal tubular acidosis Primary renal tubular acidosis hrdo:pat_id_21535 neant N25.8 314889 clinical subtype AD pRTA AD pRTA AD pRTA Acidose tubulaire rénale proximale autosomique dominante Acidosis tubular renal proximal autosómica dominante Autosomal dominant proximal renal tubular acidosis Autosomal dominant proximal renal tubular acidosis Autosomal dominant proximal renal tubular acidosis Autosomal dominant proximal renal tubular acidosis hrdo:pat_id_21537 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant E75.2 314911 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Enfermedad de Canavan infantil Enfermedad de Canavan neonatal Infantile Canavan disease Maladie de Canavan infantile Maladie de Canavan néonatale Neonatal Canavan disease Enfermedad de Canavan grave Maladie de Canavan sévère Severe Canavan disease Severe Canavan disease Severe Canavan disease Severe Canavan disease hrdo:pat_id_21538 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant E75.2 314918 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Enfermedad de Canavan juvenil Juvenile Canavan disease Maladie de Canavan juvénile Enfermedad de Canavan leve Maladie de Canavan modérée Mild Canavan disease Mild Canavan disease Mild Canavan disease Mild Canavan disease hrdo:pat_id_2154 147251 C535997 neant K00.2 2287 C2931081 morphological anomaly Fused mandibular incisors Fusion des incisives mandibulaires Fusione degli incisivi mandibolari Fusión de incisivos mandibulares Fusão dos incisivos mandibulares Verschmelzung der Schneidezähne im Unterkiefer hrdo:pat_id_21540 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant G91.2 314928 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Chronic adult hydrocephalus HPN Hidrocefalia crónica del adulto Hydrocéphalie chronique de l'adulte NPH NPH Hidrocefalia de presión normal Hydrocéphalie à pression normale Normal pressure hydrocephalus Normal pressure hydrocephalus Normal pressure hydrocephalus Normal pressure hydrocephalus hrdo:pat_id_21542 Variabel Variabile Variable Variable Variable Variable Variável neant A31.8 314946 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Infección por Mycobacterium xenopi Infection à Mycobacterium xenopi Mycobacterium xenopi infection Mycobacterium xenopi infection Mycobacterium xenopi infection Mycobacterium xenopi infection hrdo:pat_id_21543 Variabel Variabile Variable Variable Variable Variable Variável neant D47.5 314950 clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Clonal hypereosinophilic syndrome HES primario HES-M HES-M HESN HESN Neoplastic hypereosinophilic syndrome Primary HES SHE-M SHEN Syndrome hyperéosinophilique clonal Syndrome hyperéosinophilique néoplasique Síndrome hipereosinofílico clonal Síndrome hipereosinofílico neoplásico Primary hypereosinophilic syndrome Primary hypereosinophilic syndrome Primary hypereosinophilic syndrome Primary hypereosinophilic syndrome Syndrome hyperéosinophilique primitif Síndrome hipereosinofílico primario hrdo:pat_id_21544 Variabel Variabile Variable Variable Variable Variable Variável neant D47.5 314962 clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown HES secundario HESR HESR Reactive hypereosinophilic syndrome SHER Secondary HES Syndrome hyperéosinophilique réactif Síndrome hipereosinofílico reactivo Secondary hypereosinophilic syndrome Secondary hypereosinophilic syndrome Secondary hypereosinophilic syndrome Secondary hypereosinophilic syndrome Syndrome hyperéosinophilique secondaire Síndrome hipereosinofílico secundario hrdo:pat_id_21545 Variabel Variabile Variable Variable Variable Variable Variável neant D47.5 314970 clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown HES linfoide HES-L HES-L Lymphoid HES SHE-L Lymphoid hypereosinophilic syndrome Lymphoid hypereosinophilic syndrome Lymphoid hypereosinophilic syndrome Lymphoid hypereosinophilic syndrome Syndrome hyperéosinophilique lymphoïde Síndrome hipereosinofílico linfoide hrdo:pat_id_21546 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300703 neant G11.0 314978 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Ataxia cerebelosa no progresiva ligada al X Ataxie cérébelleuse liée à l'X non progressive X-linked non progressive cerebellar ataxia X-linked non progressive cerebellar ataxia X-linked non progressive cerebellar ataxia X-linked non progressive cerebellar ataxia hrdo:pat_id_21547 608227 neant 314993 malformation syndrome Cataract-congenital heart disease-neural tube defect syndrome Cataract-congenital heart disease-neural tube defect syndrome Cataract-congenital heart disease-neural tube defect syndrome Cataract-congenital heart disease-neural tube defect syndrome Syndrome de cataracte-cardiopathie congénitale-défaut de fermeture du tube neural Síndrome de cataratas-enfermedad cardíaca congénita-defectos del tubo neural hrdo:pat_id_21548 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant E25.0 315306 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Classic 21-OHD CAH, salt wasting form HCS classique par 21-OHD avec perte de sel Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form Hiperplasia suprarrenal congénita clásica por déficit de 21-hidroxilasa, forma perdedora de sal Hyperplasie congénitale des surrénales par déficit en 21-hydroxylase classique avec perte de sel Nebennierenhyperplasie, kongenitale, durch 21-Hydroxylase-Mangel, klassische Form mit Salzverlust hrdo:pat_id_21549 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant E25.0 315311 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Classic 21-OHD CAH, simple virilizing form HCS classique virilisante par 21-OHD HSC clásica virilizante por 21-OHD Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form Hiperplasia suprarrenal congénita clásica por déficit de 21-hidroxilasa, forma virilizante simple Hyperplasie congénitale des surrénales par déficit en 21-hydroxylase classique virilisante Nebennierenhyperplasie, kongenitale, durch 21-Hydroxylase-Mangel, klassische Form, einfach virilisierend hrdo:pat_id_21550 315350 group of phenomes Autoimmune disease with skin involvement Autoimmune disease with skin involvement Autoimmune disease with skin involvement Autoimmune disease with skin involvement Enfermedad autoinmune con afectación de la piel Maladie autoimmune avec atteinte cutanée hrdo:pat_id_2156 Variabel Variabile Variable Variable Variable Variable Variável 603472 C537395 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Neuronal%5Bti%5D+OR+Neurodegenerative+Diseases)+(Intranuclear+Inclusion+Bodies)+(humans+OR+patient) G31.0 2289 C1863843 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Doença de inclusões intranucleares neuronais Enfermedad de inclusiones intranucleares neuronales Krankheit der neuronalen intranukleären Einschlusskörperchen Maladie des inclusions intranucléaires neuronales Malattia da inclusioni intranucleari neuronali Neuronal intranuclear inclusion disease hrdo:pat_id_21561 neant G11.8 316226 group of phenomes SPAX SPAX SPAX Ataxia espástica Ataxie spastique Spastic ataxia Spastic ataxia Spastic ataxia Spastic ataxia hrdo:pat_id_21562 neant G11.8 316235 group of phenomes AD-SPAX AD-SPAX AD-SPAX Ataxia espástica autosómica dominante Ataxie spastique autosomique dominante Autosomal dominant spastic ataxia Autosomal dominant spastic ataxia Autosomal dominant spastic ataxia Autosomal dominant spastic ataxia hrdo:pat_id_21563 neant G11.8 316240 group of phenomes AR-SPAX AR-SPAX Ataxia espástica autosómica recesiva Ataxie spastique autosomique récessive Autosomal recessive spastic ataxia Autosomal recessive spastic ataxia Autosomal recessive spastic ataxia Autosomal recessive spastic ataxia hrdo:pat_id_21564 neant Q93.5 316244 group of phenomes Deleción parcial del cromosoma 12p Délétion partielle du chromosome 12p Monosomie partielle du bras court du chromosome 12 Monosomie partielle du chromosome 12p Monosomía parcial del brazo corto del cromosoma 12 Monosomía parcial del cromosoma 12p Partial deletion of chromosome 12p Partial monosomy of chromosome 12p Partial monosomy of the short arm of chromosome 12 Deleción parcial del brazo corto del cromosoma 12 Délétion partielle du bras court du chromosome 12 Partial deletion of the short arm of chromosome 12 Partial deletion of the short arm of chromosome 12 Partial deletion of the short arm of chromosome 12 Partial deletion of the short arm of chromosome 12 hrdo:pat_id_2157 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 251850 10068494 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Microvillous+%22inclusion+disease%22 P78.3 2290 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atrofia congénita das microvilosidades Atrofia microvellosa congénita Atrofia microvillare congenita Atrophie microvillositaire congénitale Congenital microvillous atrophy Diarrhée chronique congénitale avec anomalies des microvillosités entérocytaires familiale Mikrovillus-Atrophie, kongenitale Doença de inclusões nas microvilosidades Enfermedad de inclusión microvellosa Maladie des inclusions microvillositaires Malattia da inclusioni microvillari Microvillous inclusion disease Mikrovillöse Einschluss-Krankheit hrdo:pat_id_21578 neant D81.2 317416 group of phenomes DICS T-B+ Immunodéficience combinée sévère T-B+ SCID T-B+ T-B+ SCID T-B+ SCID Déficit immunitaire combiné sévère T-B+ Inmunodeficiencia combinada T-B+ grave T-B+ severe combined immunodeficiency T-B+ severe combined immunodeficiency T-B+ severe combined immunodeficiency T-B+ severe combined immunodeficiency hrdo:pat_id_21579 neant D81.1 317419 group of phenomes DICS T-B- Immunodéficience combinée sévère T-B- SCID T-B- T-B- SCID T-B- SCID Déficit immunitaire combiné sévère T-B- Inmunodeficiencia combinada T-B- grave T-B- severe combined immunodeficiency T-B- severe combined immunodeficiency T-B- severe combined immunodeficiency T-B- severe combined immunodeficiency hrdo:pat_id_2158 167500 neant J39.2 2291 427791009 C1997202 malformation syndrome Congenital velopharyngeal incompetence Disfunção velo-faringea Incompetencia velofaríngea congénita Incompétence vélopharyngienne congénitale Insufficenza velofaringea congenita Velopharyngeale Funktionsstörungen, kongenitale hrdo:pat_id_21580 neant D81.1 317425 disease DICS par déficit en DNA-PKcs Déficit immunitaire combiné sévère par déficit en DNA-PKcs Inmunodeficiencia combinada grave por deficiencia de DNA-PKcs SCID due to DNA-PKcs deficiency SCID par déficit en DNA-PKcs SCID por deficiencia de DNA-PKcs SCID por déficit de DNA-PKcs Immunodéficience combinée sévère par déficit en DNA-PKcs Inmunodeficiencia combinada grave por déficit de DNA-PKcs Severe combined immunodeficiency due to DNA-PKcs deficiency Severe combined immunodeficiency due to DNA-PKcs deficiency Severe combined immunodeficiency due to DNA-PKcs deficiency Severe combined immunodeficiency due to DNA-PKcs deficiency hrdo:pat_id_21581 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 612782 neant D81.8 317428 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CID due to ORAI1 deficiency CID par déficit en ORAI1 CID por deficiencia de ORAI1 CID por déficit de ORAI1 DIC par déficit en ORAI1 Immunodéficience combinée par déficit en ORAI1 Inmunodeficiencia combinada por déficit de ORAI1 Combined immunodeficiency due to ORAI1 deficiency Combined immunodeficiency due to ORAI1 deficiency Combined immunodeficiency due to ORAI1 deficiency Combined immunodeficiency due to ORAI1 deficiency Déficit immunitaire combiné par déficit en ORAI1 Inmunodeficiencia combinada por déficit de ORAI1 hrdo:pat_id_21582 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 612783 neant D81.8 317430 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CID due to STIM1 deficiency CID par déficit en STIM1 CID por deficiencia de STIM1 CID por déficit de STIM1 DIC par déficit en STIM1 Immunodéficience combinée par déficit en STIM1 Inmunodeficiencia combinada por deficiencia de STIM1 Combined immunodeficiency due to STIM1 deficiency Combined immunodeficiency due to STIM1 deficiency Combined immunodeficiency due to STIM1 deficiency Combined immunodeficiency due to STIM1 deficiency Déficit immunitaire combiné par déficit en STIM1 Inmunodeficiencia combinada por déficit de STIM1 hrdo:pat_id_21584 neant D81.8 317473 disease CID due to ikaros deficiency CID par déficit en ikaros CID por deficiencia de ikaros CID por déficit de ikaros Combined immunodeficiency due to ikaros deficiency DIC par déficit en ikaros Déficit immunitaire combiné par déficit en ikaros Immunodéficience combinée par déficit en ikaros Inmunodeficiencia combinada por deficiencia de ikaros Inmunodeficiencia combinada por déficit de ikaros Pancitopenia por mutaciones en IKZF1 Pancytopenia due to IKZF1 mutations Pancytopenia due to IKZF1 mutations Pancytopenia due to IKZF1 mutations Pancytopenia due to IKZF1 mutations Pancytopénie par mutations de IKZF1 hrdo:pat_id_21585 300853 neant D81.8 317476 disease CID due to MAGT1 deficiency CID par déficit en MAGT1 CID por deficiencia de MAGT1 CID por déficit de MAGT1 Combined immunodeficiency due to MAGT1 deficiency DIC par déficit en MAGT1 Déficit immunitaire combiné par déficit en MAGT1 Déficit immunitaire lié à l'X avec déficit en magnésium, infection et néoplasie liées à EBV Immunodéficience combinée par déficit en MAGT1 Immunodéficience liée à l'X avec déficit en magnésium, infection et néoplasie liées au virus Epstein-Barr Immunodéficience liée à l'X avec déficit en magnésium, infection et néoplasie liées à EBV Inmunodeficiencia combinada por deficiencia de MAGT1 Inmunodeficiencia combinada por déficit de MAGT1 XMEN XMEN XMEN Déficit immunitaire lié à l'X avec déficit en magnésium, infection et néoplasie liées au virus Epstein-Barr Inmunodeficiencia ligada al X con defectos del magnesio, infección por virus de Epstein-Barr y neoplasia X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia hrdo:pat_id_216 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 181500 181510 600511 600850 603013 603175 603176 603206 603342 604906 605419 608078 608543 612361 613025 613950 613959 614332 D012559 10039626 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Schizophrenia%5BTi%5D+genetics%29+OR+schizophrenia/ge%5BMajr%5D F20 3140 58214004 C0036341 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Esquizofrenia, formas genéticas Esquizofrenia, tipos genéticos Schizofrenia, forme genetiche Schizophrenia Schizophrenie, genetisch bedingte Schizophrénie hrdo:pat_id_2160 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 211355 264050 10054064 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=bowing%5Bti%5D+congenital+limb+deformities Q68.3 Q68.4 Q68.5 Q68.8 2292 C1096546 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Incurvation des os longs Congenital bowing of long bones Encurvamento congénito dos ossos longos Incurvación congénita de huesos largos Incurvation congénitale des os longs Incurvatura congenita delle ossa lunghe Verbiegung der langen Knochen, kongenitale hrdo:pat_id_21618 614807 neant G71.2 319160 disease CNM4 CNM4 CNM4 Centronuclear myopathy type 4 Miopatía centronuclear tipo 4 Myopathie centronucléaire de type 4 Congenital myopathy with internal nuclei and atypical cores Congenital myopathy with internal nuclei and atypical cores Congenital myopathy with internal nuclei and atypical cores Congenital myopathy with internal nuclei and atypical cores Miopatía congénita con central cores Myopathie congénitale avec noyaux centrés et cores atypiques hrdo:pat_id_21619 neant Q93.5 319171 malformation syndrome Del(17)(p13.1) distal Del(17)(p13.1) distale Distal Del(17)(p13.1) Distal 17p13.1 microdeletion syndrome Distal 17p13.1 microdeletion syndrome Distal 17p13.1 microdeletion syndrome Distal 17p13.1 microdeletion syndrome Syndrome de microdélétion 17p13.1 distale Síndrome de microdeleción 17p13.1 distal hrdo:pat_id_2162 Normal Normal Normal Normal Normal Normal Normale Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 147900 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(joint+laxity%5Bti%5D+OR+joint+instability%5Bmajr%5D)+(familial+OR+hereditary%5Bti%5D+OR+inherited%5Bti%5D+OR+ehlers+danlos+syndrome) Q79.6 2295 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown EDS 11 EDS XI EDS XI EDS XI EDS XI Familial joint instability syndrome Familial joint laxity Gelenkinstabilitäts-Syndrom, familiäres Hyperlaxité articulaire familiale Instabilidade articular familiar, síndrome Instabilidade articular, síndrome Joint instability syndrome Lassità articolare familiare Laxidez articular familiar SED XI Sindrome da instabilità articolare Sindrome familiare da instabilità articolare Syndrome d'instabilité articulaire Syndrome d'instabilité articulaire familiale Síndrome de inestabilidad articular Síndrome instabilidade articular Síndrome instabilidade articular familiar Ehlers-Danlos syndrome type 11 Ehlers-Danlos-Syndrome Typ 11 Sindrome di Ehlers-Danlos, tipo 11 Syndrome d'Ehlers-Danlos type 11 Síndrome de Ehlers-Danlos tipo 11 Síndrome de Ehlers-Danlos tipo 11 (EDS XI) hrdo:pat_id_21621 605130 neant Q87.1 319182 malformation syndrome Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome Syndrome d'hypertrichose-petite taille-dysmorphie faciale-retard de développement Síndrome de hipertricosis - estatura baja - dismorfismo facial - retraso en el desarrollo Syndrome de Wiedemann-Steiner Síndrome de Wiedemann-Steiner Wiedemann-Steiner syndrome Wiedemann-Steiner syndrome Wiedemann-Steiner syndrome Wiedemann-Steiner syndrome hrdo:pat_id_21622 614937 neant G25.3 319189 disease Familial cortical myoclonus Familial cortical myoclonus Familial cortical myoclonus Familial cortical myoclonus Mioclonía cortical familiar Myoclonie corticale familiale hrdo:pat_id_21623 neant Q04.8 319192 morphological anomaly Diencephalic-mesencephalic junction dysplasia Diencephalic-mesencephalic junction dysplasia Diencephalic-mesencephalic junction dysplasia Diencephalic-mesencephalic junction dysplasia Displasia de la unión diencéfalo-mesencéfalo Dysplasie de la jonction diencéphale-mésencéphale hrdo:pat_id_21624 neant Q77.6 319195 disease Chondroectodermal dysplasia with night blindness Chondroectodermal dysplasia with night blindness Chondroectodermal dysplasia with night blindness Chondroectodermal dysplasia with night blindness Displasia condroectodérmica con ceguera nocturna Dysplasie chondroectodermique avec cécité nocturne hrdo:pat_id_21625 614898 neant G11.4 319199 disease SPG53 SPG53 SPG53 Autosomal recessive spastic paraplegia type 53 Autosomal recessive spastic paraplegia type 53 Autosomal recessive spastic paraplegia type 53 Autosomal recessive spastic paraplegia type 53 Paraplejía espástica autosómica recesiva tipo 53 Paraplégie spastique autosomique récessive type 53 hrdo:pat_id_21626 neant E27.4 319205 etiological subtype BMAH BMAH BMAH Bilateral adrenal hemorrhage Hemorragia suprarrenal bilateral Hémorrhagie surrénalienne bilatérale massive Bilateral massive adrenal hemorrhage Bilateral massive adrenal hemorrhage Bilateral massive adrenal hemorrhage Bilateral massive adrenal hemorrhage Hemorragia suprarrenal masiva bilateral Hémorrhagie massive bilatérale des surrénales hrdo:pat_id_21627 neant A96.8 319213 disease Fiebre hemorrágica de Zambia Fièvre hémorragique zambienne Zambian hemorrhagic fever Fiebre hemorrágica del virus Lujo Fièvre hémorragique à arénavirus Lujo Lujo hemorrhagic fever Lujo hemorrhagic fever Lujo hemorrhagic fever Lujo hemorrhagic fever hrdo:pat_id_21628 neant A98.4 319218 disease EHF EHF EHF Ebola fever Ebola virus disease Enfermedad del virus Ébola Fiebre del Ébola Fièvre Ebola Ebola hemorrhagic fever Ebola hemorrhagic fever Ebola hemorrhagic fever Ebola hemorrhagic fever Fiebre hemorrágica del virus Ébola Fièvre hémorragique à virus Ebola hrdo:pat_id_21629 neant A96.0 319223 disease Argentinian hemorrhagic fever Fiebre hemorrágica argentina Fiebre hemorrágica del virus Junin Fièvre hémorrhagique à arénavirus Junin Junin hemorrhagic fever Argentine hemorrhagic fever Argentine hemorrhagic fever Argentine hemorrhagic fever Argentine hemorrhagic fever Fiebre hemorrágica de Argentina Fièvre hémorrhagique argentine hrdo:pat_id_21630 neant A96.1 319229 disease Fiebre hemorrágica del virus Machupo Fièvre hémorrhagique à arénavirus Machupo Machupo hemorrhagic fever Bolivian hemorrhagic fever Bolivian hemorrhagic fever Bolivian hemorrhagic fever Bolivian hemorrhagic fever Fiebre hemorrágica boliviana Fièvre hémorrhagique bolivienne hrdo:pat_id_21631 neant A96.8 319234 disease Fiebre hemorrágica del virus Guanarito Fièvre hémorrhagique à arénavirus Guanarito Guanarito hemorrhagic fever Fiebre hemorrágica venezolana Fièvre hémorrhagique vénézuelienne Venezuelan hemorrhagic fever Venezuelan hemorrhagic fever Venezuelan hemorrhagic fever Venezuelan hemorrhagic fever hrdo:pat_id_21632 neant A96.8 319239 disease Fiebre hemorrágica del virus Sabia Fièvre hémorrhagique à arénavirus Sabia Sabia hemorrhagic fever Brazilian hemorrhagic fever Brazilian hemorrhagic fever Brazilian hemorrhagic fever Brazilian hemorrhagic fever Fiebre hemorrágica brasileña Fièvre hémorrhagique brésilienne hrdo:pat_id_21633 neant A96.8 319244 disease Chapare hemorrhagic fever Chapare hemorrhagic fever Chapare hemorrhagic fever Chapare hemorrhagic fever Fiebre hemorrágica del virus Chapare Fièvre hémorrhagique à arénavirus Chapare hrdo:pat_id_21634 neant B33.4+ J17.1* 319247 disease SPH Hantavirus pulmonary syndrome Hantavirus pulmonary syndrome Hantavirus pulmonary syndrome Hantavirus pulmonary syndrome Syndrome pulmonaire à Hantavirus Síndrome pulmonar por hantavirus hrdo:pat_id_21635 neant A92.4 319251 disease Fiebre del valle del Rift Fièvre de la vallée du Rift Rift valley fever Rift valley fever Rift valley fever Rift valley fever hrdo:pat_id_21636 neant A98.2 319254 disease Fiebre hemorrágica de Kyasanur Fièvre de Kyanasur Fièvre hémorrhagique de Kyanasur Kyasanur hemorrhagic fever Enfermedad de la selva de Kyasanur Kyasanur forest disease Kyasanur forest disease Kyasanur forest disease Kyasanur forest disease Maladie de la forêt de Kyasanur hrdo:pat_id_21637 neant A98.1 319266 disease Fiebre hemorrágica de Omsk Fièvre hémorrhagique d'Omsk Omsk hemorrhagic fever Omsk hemorrhagic fever Omsk hemorrhagic fever Omsk hemorrhagic fever hrdo:pat_id_21638 609423 neant 319269 particular clinical situation in a disease or syndrome Susceptibilidad/resistencia a la infección por el VIH Susceptibility/resistance to HIV infection Susceptibility/resistance to HIV infection Susceptibility/resistance to HIV infection Susceptibility/resistance to HIV infection Susceptibilité/résistance à l'infection HIV hrdo:pat_id_21639 neant C64 319276 histopathological subtype Adenocarcinoma de células claras Adenocarcinoma renal de células claras Adénocarcinome rénal à cellules claires CCRCC CCRCC CCRCC Carcinoma renal de células claras Clear cell adenocarcinoma Clear cell renal cell adenocarcinoma Clear cell renal cell carcinoma Carcinoma de células renales claras Carcinome rénal à cellules claires Clear cell renal carcinoma Clear cell renal carcinoma Clear cell renal carcinoma Clear cell renal carcinoma hrdo:pat_id_21640 neant C64 319287 histopathological subtype Adenocarcinoma multilocular de células claras Adenocarcinoma quístico multiocular de células renales Adenocarcinoma renal multilocular de células claras Carcinoma multilocular de células claras Carcinoma renal de células claras multilocular Carcinome à cellules rénales kystique multiloculaire Multilocular clear cell adenocarcinoma Multilocular clear cell carcinoma Multilocular clear cell renal cell adenocarcinoma Multilocular clear cell renal cell carcinoma Multilocular cystic renal cell adenocarcinoma Carcinoma renal quístico multilocular Carcinome rénal kystique multiloculaire Multilocular cystic renal cell carcinoma Multilocular cystic renal cell carcinoma Multilocular cystic renal cell carcinoma Multilocular cystic renal cell carcinoma hrdo:pat_id_21641 neant C64 319298 histopathological subtype Adenocarcinoma papilar renal Adénocarcinome rénal papillaire Carcinoma papilar de células renales Papillary renal cell adenocarcinoma Carcinoma papilar renal Carcinome rénal papillaire Papillary renal cell carcinoma Papillary renal cell carcinoma Papillary renal cell carcinoma Papillary renal cell carcinoma hrdo:pat_id_21642 neant C64 319303 histopathological subtype Adenocarcinoma de células renales cromófobo Adénocarcinome rénal chromophobe Chromophobe renal cell adenocarcinoma Carcinoma de células renales cromófobo Carcinome rénal chromophobe Chromophobe renal cell carcinoma Chromophobe renal cell carcinoma Chromophobe renal cell carcinoma Chromophobe renal cell carcinoma hrdo:pat_id_21643 300854 neant C64 319308 histopathological subtype Carcinoma asociado a la translocación MITF/TFE Carcinoma associated with MITF/TFE translocation Carcinoma con translocación Carcinome rénal associé à une translocation MITF/TFE Translocation carcinoma Carcinoma de células renales con translocación Carcinome rénal associé à une translocation Translocation renal cell carcinoma Translocation renal cell carcinoma Translocation renal cell carcinoma Translocation renal cell carcinoma hrdo:pat_id_21644 neant C64 319314 histopathological subtype Carcinoma de células renales tras un neuroblastoma Carcinome rénal après un neuroblastome Renal cell carcinoma after neuroblastoma Carcinoma de células renales asociado con un neuroblastoma Carcinome rénal associé au neuroblastome Renal cell carcinoma associated with neuroblastoma Renal cell carcinoma associated with neuroblastoma Renal cell carcinoma associated with neuroblastoma Renal cell carcinoma associated with neuroblastoma hrdo:pat_id_21645 neant C64 319319 histopathological subtype Carcinoma renal medular Carcinoma rénal médullaire Renal medullary carcinoma Renal medullary carcinoma Renal medullary carcinoma Renal medullary carcinoma hrdo:pat_id_21646 neant C64 319322 histopathological subtype Carcinoma mucinoso tubular de células fusiformes Carcinome tubulo-mucineux à cellules fusiformes Mucinous tubular and spindle cell carcinoma Mucinous tubular and spindle cell carcinoma Mucinous tubular and spindle cell carcinoma Mucinous tubular and spindle cell carcinoma hrdo:pat_id_21647 neant C64 319325 histopathological subtype Carcinoma tubuloquístico Carcinome tubulokystique Tubulocystic carcinoma Tubulocystic carcinoma Tubulocystic carcinoma Tubulocystic carcinoma hrdo:pat_id_21648 neant C64 319328 group of phenomes Syndrome familial avec prédisposition aux cancers du rein Inherited renal cell cancer-predisposing syndrome Inherited renal cell cancer-predisposing syndrome Inherited renal cell cancer-predisposing syndrome Inherited renal cell cancer-predisposing syndrome Syndrome familial avec prédisposition aux cancers rénal Síndrome hereditario de predisposición al cáncer de células renales hrdo:pat_id_21649 neant Q74.3 319332 disease AMC asociada a SYNE1 AMC miogénica autosómica recesiva AMC myogénique autosomique recessive Arthrogrypose multiple congénitale associée à SYNE1 Artrogriposis múltiple congénita asociada a SYNE1 Autosomal recessive myogenic AMC SYNE1-related AMC SYNE1-related arthrogryposis multiplex congenita Arthrogrypose multiple congénitale myogénique autosomique récessive Artrogriposis múltiple congénita miogénica autosómica recesiva Autosomal recessive myogenic arthrogryposis multiplex congenita Autosomal recessive myogenic arthrogryposis multiplex congenita Autosomal recessive myogenic arthrogryposis multiplex congenita Autosomal recessive myogenic arthrogryposis multiplex congenita hrdo:pat_id_21650 608837 neant D44.8 319340 disease Carney complex variant Variant du complexe de Carney Variante del complejo de Carney Carney complex-trismus-pseudocamptodactyly syndrome Carney complex-trismus-pseudocamptodactyly syndrome Carney complex-trismus-pseudocamptodactyly syndrome Carney complex-trismus-pseudocamptodactyly syndrome Syndrome complexe de Carney-trismus-pseudocamptodactylie Síndrome del complejo de Carney - trismo - pseudocamptodactilia hrdo:pat_id_21658 605724 neant 319462 disease Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations Syndrome familial avec prédisposition aux cancers par mutations bialléliques de BRCA2 Síndrome hereditario de predisposición al cáncer por mutaciones bialélicas en BRCA2 hrdo:pat_id_21659 neant C92.0 319465 disease AML familiale AML familiar AML familiar pura AML hereditaria AML héréditaire Familial AML Inherited AML LAM familiale LAM héréditaire Leucemia mieloide aguda familiar pura Leucémie aiguë myéloblastique familiale Leucémie aiguë myéloblastique héréditaire Leucémie aiguë myéloïde familiale Pure familial AML Pure familial acute myeloid leukemia Inherited acute myeloid leukemia Inherited acute myeloid leukemia Inherited acute myeloid leukemia Inherited acute myeloid leukemia Leucemia mieloide aguda hereditaria Leucémie aiguë myéloïde héréditaire hrdo:pat_id_2166 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q86.8 2305 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Embriopatia da acido retinoico Embriopatia da isotretinoina Embriopatia da retinoidi Embriopatia por isotretinoína Embriopatia por retinóides Embriopatía por isotretinoina Embriopatía por retinoides Embriopatía por ácido retinoico Embryofetopathie aux rétinoïdes Embryofoetopathie à l'isotrétinoïne Embryopathie à l'acide rétinoïque Isotretinoin embryopathy Isotretinoin-Embryoathie Retinoic acid embryopathy Retinoid-Embryopathie Retinoids embryopathy Isotretinoin syndrome Isotretinoin-Syndrom Sindrome da isotretinoina Syndrome isotrétinoïne Síndrome isotretinoína Síndrome por isotretinoina hrdo:pat_id_21660 neant C92.0 319480 disease AML avec mutations somatiques de CEBPA AML con mutaciones somáticas de CEBPA AML with CEBPA somatic mutations LAM avec mutations somatiques de CEBPA Acute myeloid leukemia with CEBPA somatic mutations Acute myeloid leukemia with CEBPA somatic mutations Acute myeloid leukemia with CEBPA somatic mutations Acute myeloid leukemia with CEBPA somatic mutations Leucemia mieloide aguda con mutaciones somáticas de CEBPA Leucémie aiguë myéloïde avec mutations somatiques de CEBPA hrdo:pat_id_21661 603386 603744 606240 neant C73 319487 disease Carcinoma no medular puro familiar de tiroides Carcinome non médullaire pur familial de la thyroïde FNMTC FNMTC FNMTC Familial pure nonmedullary thyroid carcinoma Carcinoma papilar o folicular familiar de tiroides Carcinome papillaire ou folliculaire familial de la thyroïde Familial papillary or follicular thyroid carcinoma Familial papillary or follicular thyroid carcinoma Familial papillary or follicular thyroid carcinoma Familial papillary or follicular thyroid carcinoma hrdo:pat_id_21662 neant C73 319494 group of phenomes Carcinoma no medular familiar de tiroides Carcinome non médullaire familial de la thyroïde Familial nonmedullary thyroid carcinoma Familial nonmedullary thyroid carcinoma Familial nonmedullary thyroid carcinoma Familial nonmedullary thyroid carcinoma hrdo:pat_id_21663 614096 neant 319504 disease COXPD8 COXPD8 COXPD8 Combined oxidative phosphorylation defect type 8 Combined oxidative phosphorylation defect type 8 Combined oxidative phosphorylation defect type 8 Combined oxidative phosphorylation defect type 8 Déficit combinado de la fosforilación oxidativa tipo 8 Déficit combiné de la phosphorylation oxydative type 8 hrdo:pat_id_21664 614582 neant 319509 disease COXPD9 COXPD9 COXPD9 Combined oxidative phosphorylation defect type 9 Combined oxidative phosphorylation defect type 9 Combined oxidative phosphorylation defect type 9 Combined oxidative phosphorylation defect type 9 Déficit combinado de la fosforilación oxidativa tipo 9 Déficit combiné de la phosphorylation oxydative type 9 hrdo:pat_id_21665 614932 neant 319514 disease COXPD13 COXPD13 COXPD13 Combined oxidative phosphorylation defect type 13 Combined oxidative phosphorylation defect type 13 Combined oxidative phosphorylation defect type 13 Combined oxidative phosphorylation defect type 13 Déficit combinado de la fosforilación oxidativa tipo 13 Déficit combiné de la phosphorylation oxydative type 13 hrdo:pat_id_21666 614946 neant 319519 disease COXPD14 COXPD14 COXPD14 Combined oxidative phosphorylation defect type 14 Combined oxidative phosphorylation defect type 14 Combined oxidative phosphorylation defect type 14 Combined oxidative phosphorylation defect type 14 Déficit combinado de la fosforilación oxidativa tipo 14 Déficit combiné de la phosphorylation oxydative type 14 hrdo:pat_id_21667 614947 neant 319524 disease COXPD15 COXPD15 COXPD15 Combined oxidative phosphorylation defect type 15 Combined oxidative phosphorylation defect type 15 Combined oxidative phosphorylation defect type 15 Combined oxidative phosphorylation defect type 15 Déficit combinado de la fosforilación oxidativa tipo 15 Déficit combiné de la phosphorylation oxydative type 15 hrdo:pat_id_21668 Variabel Variabile Variable Variable Variable Variable Variável neant A31.9 319535 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Autosomal recessive MSMD due to a complete deficiency MSMD autosómica recesiva por un déficit completo Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency Prédisposition mendélienne autosomique récessive aux infections mycobactériennes par déficit complet Susceptibilidad mendeliana autosómica recesiva a enfermedades micobacterianas por déficit completo hrdo:pat_id_21669 Variabel Variabile Variable Variable Variable Variable Variável neant A31.9 319539 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Autosomal recessive MSMD due to a partial deficiency MSMD autosómica recesiva por un déficit parcial Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency Prédisposition mendélienne autosomique récessive aux infections mycobactériennes par déficit partiel Susceptibilidad mendeliana autosómica recesiva a enfermedades micobacterianas por déficit parcial hrdo:pat_id_2167 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 243440 neant Q87.8 2306 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Kawashima syndrome Kawashima, síndrome de Kawashima-Syndrom Microtia - anomalia dell'arco aortico Microtia - síndorme do arco aórtico Microtia - síndrome do arco aórtico Microtia-aortic arch syndrome Microtie - anomalie de la crosse aortique Mikrotie - Aortenbogensyndrom Sindrome di Kawashima Syndrome de Kawashima Síndrome de Kawashima Isotretinoin-like syndrome Isotretinoin-ähnliches-Syndrom Sindrome isotretinoina-simile Syndrome isotretinoïne-like Síndrome isotretinoina like Síndrome isotretinoina-like hrdo:pat_id_21670 neant A31.9 319543 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Autosomal dominant MSMD due to a partial deficiency MSMD autosómica dominante por un déficit parcial Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency Prédisposition mendélienne autosomique dominante aux infections mycobactériennes par déficit partiel Susceptibilidad mendeliana autosómica dominante a enfermedades micobacterianas por déficit parcial hrdo:pat_id_21671 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant A31.9 319547 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 MSMD due to complete IFNgammaR2 deficiency MSMD due to complete interferon gamma receptor 2 deficiency MSMD par déficit complet d'IFNgammaR2 MSMD par déficit complet en récepteur 2 de l'interféron gamma MSMD por déficit completo del IFNgammaR2 MSMD por déficit completo del receptor 2 del interferón-gamma Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency Prédisposition mendélienne aux infections mycobactériennes par déficit complet en récepteur 2 de l'interféron gamma Susceptibilidad mendeliana a enfermedades micobacterianas por déficit completo del receptor 2 del interferón-gamma Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency Prédisposition mendélienne aux infections mycobactériennes par déficit complet d'IFNgammaR2 Susceptibilidad mendeliana a enfermedades micobacterianas por déficit completo del IFNgammaR2 hrdo:pat_id_21672 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant A31.9 319552 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 MSMD due to complete IL12RB1 deficiency MSMD due to complete interleukin 12 receptor beta 1 deficiency MSMD par déficit complet d'IL12RB1 MSMD par déficit complet en récepteur beta 1 de l'interleukine 12 MSMD por déficit completo del IL12RB1 MSMD por déficit completo del receptor beta 1 de la interleucina 12 Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency Prédisposition mendélienne aux infections mycobactériennes par déficit complet en récepteur beta 1 de l'interleukine 12 Susceptibilidad mendeliana al déficit del receptor beta 1 de la interleucina 12 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency Prédisposition mendélienne aux infections mycobactériennes par déficit complet d'IL12RB1 Susceptibilidad mendeliana a enfermedades micobacterianas por déficit completo del IL12RB1 hrdo:pat_id_21673 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant A31.9 319558 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 MSMD due to complete IL12B deficiency MSMD due to complete interleukin 12B deficiency MSMD par déficit complet d'IL12B MSMD par déficit complet en interleukine 12B MSMD por déficit completo de la interleucina 12B MSMD por déficit completo del IL12B Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency Prédisposition mendélienne aux infections mycobactériennes par déficit complet d'en interleukine 12B Susceptibilidad mendeliana a enfermedades micobacterianas por déficit completo de la interleucina 12B Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency Prédisposition mendélienne aux infections mycobactériennes par déficit complet d'IL12B Susceptibilidad mendeliana a enfermedades micobacterianas por déficit completo del IL12B hrdo:pat_id_21674 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant A31.9 319563 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 MSMD due to complete ISG15 deficiency MSMD par déficit complet d'ISG15 deficiency MSMD por déficit completo del ISG15 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency Prédisposition mendélienne aux infections mycobactériennes par déficit complet d'ISG15 Susceptibilidad mendeliana a enfermedades micobacterianas por déficit completo del ISG15 hrdo:pat_id_21675 Normal Normal Normal Normal Normal Normal Normale neant A31.9 319569 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Autosomal recessive MSMD due to partial IFNgammaR1 deficiency Autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency MSMD autosomique récessive par déficit partiel d'IFNgammaR1 MSMD autosomique récessive par déficit partiel en récepteur 1 de l'interféron gamma MSMD autosómica recesiva por déficit parcial del IFNgammaR1 MSMD autosómica recesiva por déficit parcial del receptor 1 del interferón-gamma Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Prédisposition mendélienne autosomique récessive aux infections mycobactériennes par déficit partiel d'IFNgammaR1 Susceptibilidad mendeliana autosómica recesiva a enfermedades micobacterianas por déficit parcial del IFNgammaR1 hrdo:pat_id_21676 neant A31.9 319574 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Autosomal recessive MSMD due to partial IFNgammaR2 deficiency Autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency MSMD autosomique récessive par déficit partiel d'IFNgammaR2 MSMD autosomique récessive par déficit partiel en récepteur 2 de l'interféron gamma MSMD autosómica recesiva por déficit parcial del IFNgammaR2 MSMD autosómica recesiva por déficit parcial del receptor 2 del interferón-gamma Autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Autosomal recessive Mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Prédisposition mendélienne autosomique récessive aux infections mycobactériennes par déficit partiel d'IFNgammaR2 Susceptibilidad mendeliana autosómica recesiva a enfermedades micobacterianas por déficit parcial del IFNgammaR2 hrdo:pat_id_21677 Normal Normal Normal Normal Normal Normal Normale Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter neant A31.9 319581 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Autosomal dominant MSMD due to partial IFNgammaR1 deficiency Autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency MSMD autosomique dominante par déficit partiel d'IFNgammaR1 MSMD autosomique dominante par déficit partiel en récepteur 1 de l'interféron gamma MSMD autosómica dominante por déficit parcial del IFNgammaR1 MSMD autosómica dominante por déficit parcial del receptor 1 del interferón-gamma Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency Prédisposition mendélienne autosomique dominante aux infections mycobactériennes par déficit partiel d'IFNgammaR1 Susceptibilidad mendeliana autosómica dominante a enfermedades micobacterianas por déficit parcial del IFNgammaR1 hrdo:pat_id_21678 neant A31.9 319589 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Autosomal dominant MSMD due to partial IFNgammaR2 deficiency Autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency MSMD autosomique dominant par déficit partiel d'IFNgammaR2 MSMD autosomique dominant par déficit partiel en récepteur 2 de l'interféron gamma MSMD autosómica dominante por déficit parcial del IFNgammaR2 MSMD autosómica dominante por déficit parcial del receptor 2 del interferón-gamma Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency Prédisposition mendélienne autosomique dominante aux infections mycobactériennes par déficit partiel d'IFNgammaR2 Susceptibilidad mendeliana autosómica dominante a enfermedades micobacterianas por déficit parcial del IFNgammaR2 hrdo:pat_id_21679 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 613796 neant A31.9 319595 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 MSMD due to partial STAT1 deficiency MSMD par déficit partiel en STAT1 MSMD por déficit parcial del STAT1 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency Prédisposition mendélienne aux infections mycobactériennes par déficit partiel en STAT1 Susceptibilidad mendeliana a enfermedades micobacterianas por déficit parcial del STAT1 hrdo:pat_id_2168 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 147750 neant Q71.8 2307 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Oculo-oto-radial syndrome Okulo-oto-radiales Syndrom Sindrome oculo-oto-radiale Syndrome oculo-oto-radial Síndrome óculo-oto-radial Síndrome óculo-oto-radial Óculo-oto-radial, síndrome IVIC syndrome IVIC-Syndrom Sindrome IVIC Syndrome IVIC Síndrome IVIC Síndrome IVIC hrdo:pat_id_21680 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant A31.9 319600 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 MSMD due to partial IRF8 deficiency MSMD due to partial interferon regulatory factor 8 deficiency MSMD par déficit partiel en IRF8 MSMD par déficit partiel en facteur 8 régulateur de l'interféron MSMD por déficit parcial del IRF89 MSMD por déficit parcial del factor regulador de interferón 8 Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency Prédisposition mendélienne aux infections mycobactériennes par déficit partiel en facteur 8 régulateur de l'interféron Susceptibilidad mendeliana a enfermedades micobacterianas por déficit parcial del factor regulador de interferón 8 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency Prédisposition mendélienne aux infections mycobactériennes par déficit partiel en IRF8 Susceptibilidad mendeliana a enfermedades micobacterianas por déficit parcial del IRF89 hrdo:pat_id_21681 Normal Normal Normal Normal Normal Normal Normale 300636 300645 neant A31.9 319605 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 MSMD ligada al X MSMD liée à l'X X-linked MSMD Prédisposition mendélienne liée à l'X aux infections mycobactériennes Susceptibilidad mendeliana a enfermedades micobacterianas ligada al X X-linked mendelian susceptibility to mycobacterial diseases X-linked mendelian susceptibility to mycobacterial diseases X-linked mendelian susceptibility to mycobacterial diseases X-linked mendelian susceptibility to mycobacterial diseases hrdo:pat_id_21682 300636 neant A31.9 319612 etiological subtype MSMD ligada al X por déficit de IKBKG MSMD ligada al X por déficit de NEMO MSMD liée à l'X par déficit en IKBKG MSMD liée à l'X par déficit en NEMO Prédisposition mendélienne liée à l'X aux infections mycobactériennes par déficit en NEMO Susceptibilidad mendeliana a enfermedades micobacterianas ligada al X por déficit de NEMO X-linked MSMD due to IKBKG deficiency X-linked MSMD due to NEMO deficiency X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency Prédisposition mendélienne liée à l'X aux infections mycobactériennes par déficit en IKBKG Susceptibilidad mendeliana a enfermedades micobacterianas ligada al X por déficit de IKBKG X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency hrdo:pat_id_21683 300645 neant A31.9 319623 etiological subtype MSMD ligada al X por déficit de CYBB MSMD liée à l'X par déficit en CYBB X-linked MSMD due to CYBB deficiency Prédisposition mendélienne liée à l'X aux infections mycobactériennes par déficit en CYBB Susceptibilidad mendeliana a enfermedades micobacterianas ligada al X por déficit de CYBB X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency hrdo:pat_id_21684 neant E85.4+ L99.0* 319635 disease Amiloidosis cutánea discrómica Amyloidosis cutis dyschromica Amiloidosis cutánea discrómica Amyloidosis cutis dyschromia Amyloidosis cutis dyschromia Amyloidosis cutis dyschromia Amyloidosis cutis dyschromia Amylose cutanée dyschromique hrdo:pat_id_21685 608051 neant H35.5 319640 disease MCDR2 MCDR2 MCDR2 Distrofia macular de la retina tipo 2 Dystrophie maculaire rétinienne type 2 Retinal macular dystrophy type 2 Retinal macular dystrophy type 2 Retinal macular dystrophy type 2 Retinal macular dystrophy type 2 hrdo:pat_id_21686 614921 neant E77.8 319646 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease CDGIt CDGIt CDGIt PGM-CDG syndrome PGM-CDG syndrome PGM-CDG syndrome PGM-CDG syndrome Syndrome PGM-CDG Síndrome PGM-CDG hrdo:pat_id_21687 613839 neant D52.8 319651 disease DHFR deficiency Dihydrofolate reductase deficiency Déficit de DHFR Déficit de dihidrofolato reductasa Déficit en DHFR Déficit en dihydrofolate réductase Anemia megaloblástica constitucional con enfermedad neurológica grave Anémie mégaloblastique constitutionnelle avec neuropathie sévère Constitutional megaloblastic anemia with severe neurologic disease Constitutional megaloblastic anemia with severe neurologic disease Constitutional megaloblastic anemia with severe neurologic disease Constitutional megaloblastic anemia with severe neurologic disease hrdo:pat_id_21688 319658 disease Déficit intelectual inexplicado Déficit intellectuel inexpliqué Unexplained intellectual deficit Unexplained intellectual deficit Unexplained intellectual deficit Unexplained intellectual deficit hrdo:pat_id_21689 319667 disease Primary lymphoid conjunctival tumor Tumor conjuntival linfoide primario Linfoma primario de la conjuntiva Lymphome primitif de la conjonctive Primary lymphoma of the conjunctiva Primary lymphoma of the conjunctiva Primary lymphoma of the conjunctiva Primary lymphoma of the conjunctiva hrdo:pat_id_2169 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 167200 167210 260130 D053549 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Pachyonychia+congenita%5Btw%5D+AND+%28%22humans%22%5BMeSH+Terms%5D+OR+humans%5BText+Word%5D%29 Q84.5 2309 39427000 C0265334 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Jadassohn-Lewandowsky, síndrome de PC PC PC PC PC Síndrome de Jadassohn-Lewandowsky Pachionichia congenita Pachyonychia congenita Pachyonychia congenita Pachyonychie congénitale Paquioniquia congénita Paquioniquia congénita hrdo:pat_id_21690 615071 neant Q87.1 319671 malformation syndrome Enanismo primordial microcefálico, tipo Alazami Microcephalic primordial dwarfism, Alazami type Microcephalic primordial dwarfism, Alazami type Microcephalic primordial dwarfism, Alazami type Microcephalic primordial dwarfism, Alazami type Nanisme microcéphalique primordial type Alazami hrdo:pat_id_21691 614851 neant Q87.1 319675 malformation syndrome Enanismo primordial microcefálico, tipo Dauber Microcephalic primordial dwarfism, Dauber type Microcephalic primordial dwarfism, Dauber type Microcephalic primordial dwarfism, Dauber type Microcephalic primordial dwarfism, Dauber type Nanisme microcéphalique primordial type Dauber hrdo:pat_id_21692 614654 neant 319678 disease Encefalopatía - miocardiopatía hipertrófica - enfermedad tubular renal Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease Encephalopathy - hypertrophic cardiomyopathy - renal tubular disease Encéphalopathie - cardiomyopathie hypertrophique - néphropathie tubulaire hrdo:pat_id_21693 223100 neant E73.1 319681 disease Lactase non-persistence in adulthood Lactase non-persistence in adulthood Lactase non-persistence in adulthood Lactase non-persistence in adulthood No persistencia de la lactasa en la edad adulta Non-persistence de la lactase à l'âge adulte hrdo:pat_id_21694 613850 neant 319684 disease Déficit de inosina trifosfatasa Déficit en inosine triphosphatase Inosine triphosphatase deficiency Inosine triphosphatase deficiency Inosine triphosphatase deficiency Inosine triphosphatase deficiency hrdo:pat_id_21696 303900 neant H53.5 319691 disease Achromatopsie partielle type protan Acromatopsia parcial, tipo protan Partial achromatopsia, protan type Protanopia Protanopie Protanopía Ceguera parcial para los colores, tipo protan Cécité partielle des couleurs type protan Partial color blindness, protan type Partial color blindness, protan type Partial color blindness, protan type Partial color blindness, protan type hrdo:pat_id_21697 303800 neant H35.5 319698 disease Achromatopsie partielle type deutan Acromatopsia parcial, tipo deutan Deuteranopia Deuteranopie Deuteranopía Partial achromatopsia, deutan type Ceguera parcial para los colores, tipo deutan Cécité partielle des couleurs type deutan Partial color blindness, deutan type Partial color blindness, deutan type Partial color blindness, deutan type Partial color blindness, deutan type hrdo:pat_id_21698 168600 neant G20 319705 disease Enfermedad de Parkinson Maladie de Parkinson Parkinson disease Parkinson disease Parkinson disease Parkinson disease hrdo:pat_id_21699 319719 group of phenomes Autoinflammatory syndrome of childhood Autoinflammatory syndrome of childhood Autoinflammatory syndrome of childhood Autoinflammatory syndrome of childhood Syndrome autoinflammatoire de l'enfant Síndrome autoinflamatorio de la infancia hrdo:pat_id_2170 246000 2310 malformation syndrome Absence deformity of leg - cataract Ausência de membros inferiores - cataratas Beinhypoplasie - Katarakt Hipoplasia de pierna cataratas Hypoplasie de la jambe - cataracte Ipoplasia della gamba - cataratta hrdo:pat_id_21706 320317 group of phenomes CLEPD CLEPD CLEPD Cleft lip/palate - ectodermal dysplasia Cleft lip/palate - ectodermal dysplasia Cleft lip/palate - ectodermal dysplasia Cleft lip/palate - ectodermal dysplasia Fente labiopalatine - dysplasie ectodermique Labio leporino/paladar hendido - displasia ectodérmica hrdo:pat_id_21707 neant G11.4 320332 group of phenomes Paraplejía espástica pura ligada al X Paraplégie spastique pure liée à l'X X-linked pure spastic paraplegia X-linked pure spastic paraplegia X-linked pure spastic paraplegia X-linked pure spastic paraplegia hrdo:pat_id_21708 neant G11.4 320335 group of phenomes Paraplejía espástica familiar pura o compleja Paraplejía espástica familiar pura o complicada Paraplejía espástica hereditaria pura o complicada Paraplégie spastique familiale pure ou complexe Pure or complex familial spastic paraplegia Pure or complicated familial spastic paraplegia Pure or complicated hereditary spastic paraplegia Paraplejía espástica hereditaria pura o compleja Paraplégie spastique héréditaire pure ou complexe Pure or complex hereditary spastic paraplegia Pure or complex hereditary spastic paraplegia Pure or complex hereditary spastic paraplegia Pure or complex hereditary spastic paraplegia hrdo:pat_id_21709 neant G11.4 320342 group of phenomes Paraplejía espástica autosómica dominante pura o complicada Pure or complicated autosomal dominant spastic paraplegia Paraplejía espástica autosómica dominante pura o compleja Paraplégie spastique autosomique dominante pure ou complexe Pure or complex autosomal dominant spastic paraplegia Pure or complex autosomal dominant spastic paraplegia Pure or complex autosomal dominant spastic paraplegia Pure or complex autosomal dominant spastic paraplegia hrdo:pat_id_21710 neant G11.4 320346 group of phenomes Paraplejía espástica autosómica recesiva pura o complicada Pure or complicated autosomal recessive spastic paraplegia Paraplejía espástica autosómica recesiva pura o compleja Paraplégie spastique autosomique récessive pure ou complexe Pure or complex autosomal recessive spastic paraplegia Pure or complex autosomal recessive spastic paraplegia Pure or complex autosomal recessive spastic paraplegia Pure or complex autosomal recessive spastic paraplegia hrdo:pat_id_21711 neant G11.4 320350 group of phenomes Paraplejía espástica ligada al X pura o complicada Pure or complicated X-linked spastic paraplegia Paraplejía espástica ligada al X pura o compleja Paraplégie spastique liée à l'X pure ou complexe Pure or complex X-linked spastic paraplegia Pure or complex X-linked spastic paraplegia Pure or complex X-linked spastic paraplegia Pure or complex X-linked spastic paraplegia hrdo:pat_id_21712 613364 neant G11.4 320355 disease SPG41 SPG41 SPG41 Autosomal dominant spastic paraplegia type 41 Autosomal dominant spastic paraplegia type 41 Autosomal dominant spastic paraplegia type 41 Autosomal dominant spastic paraplegia type 41 Paraplejía espástica autosómica dominate tipo 41 Paraplégie spastique autosomique dominante type 41 hrdo:pat_id_21713 neant G11.4 320360 disease Maternally-inherited SPG SPG de herencia materna SPG de transmission maternelle Maternally-inherited spastic paraplegia Maternally-inherited spastic paraplegia Maternally-inherited spastic paraplegia Maternally-inherited spastic paraplegia Paraplejía espástica de herencia materna Paraplégie spastique de transmission maternelle hrdo:pat_id_21714 613096 neant G11.4 320365 disease SPG36 SPG36 SPG36 Autosomal dominant spastic paraplegia type 36 Autosomal dominant spastic paraplegia type 36 Autosomal dominant spastic paraplegia type 36 Autosomal dominant spastic paraplegia type 36 Paraplejía espástica autosómica dominate tipo 36 Paraplégie spastique autosomique dominante type 36 hrdo:pat_id_21715 615043 neant G11.4 320370 disease SPG43 SPG43 SPG43 Autosomal recessive spastic paraplegia type 43 Autosomal recessive spastic paraplegia type 43 Autosomal recessive spastic paraplegia type 43 Autosomal recessive spastic paraplegia type 43 Paraplejía espástica autosómica recesiva tipo 43 Paraplégie spastique autosomique récessive type 43 hrdo:pat_id_21716 615035 neant G11.4 320375 disease SPG55 SPG55 SPG55 Autosomal recessive spastic paraplegia type 55 Autosomal recessive spastic paraplegia type 55 Autosomal recessive spastic paraplegia type 55 Autosomal recessive spastic paraplegia type 55 Paraplejía espástica autosómica recesiva tipo 55 Paraplégie spastique autosomique récessive type 55 hrdo:pat_id_21717 615033 neant G11.4 320380 disease SPG54 SPG54 SPG54 Autosomal recessive spastic paraplegia type 54 Autosomal recessive spastic paraplegia type 54 Autosomal recessive spastic paraplegia type 54 Autosomal recessive spastic paraplegia type 54 Paraplejía espástica autosómica recesiva tipo 54 Paraplégie spastique autosomique récessive type 54 hrdo:pat_id_21718 615031 neant G11.4 320385 disease SPG49 SPG49 SPG49 Autosomal recessive spastic paraplegia type 49 Autosomal recessive spastic paraplegia type 49 Autosomal recessive spastic paraplegia type 49 Autosomal recessive spastic paraplegia type 49 Paraplejía espástica autosómica recesiva tipo 49 Paraplégie spastique autosomique récessive type 49 hrdo:pat_id_21719 614409 neant G11.4 320391 disease SPG46 SPG46 SPG46 Autosomal recessive spastic paraplegia type 46 Autosomal recessive spastic paraplegia type 46 Autosomal recessive spastic paraplegia type 46 Autosomal recessive spastic paraplegia type 46 Paraplejía espástica autosómica recesiva tipo 46 Paraplégie spastique autosomique récessive type 46 hrdo:pat_id_2172 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 243800 C535880 Q87.8 2315 75979009 C0175692 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Johanson-Blizzard syndrome Johanson-Blizzard-Syndrom Sindrome di Johanson-Blizzard Syndrome de Johanson-Blizzard Síndrome de Johanson-Blizzard Síndrome de Johanson-Blizzard hrdo:pat_id_21720 613162 neant G11.4 320396 disease SPG45 SPG45 SPG45 Autosomal recessive spastic paraplegia type 45 Autosomal recessive spastic paraplegia type 45 Autosomal recessive spastic paraplegia type 45 Autosomal recessive spastic paraplegia type 45 Paraplejía espástica autosómica recesiva tipo 45 Paraplégie spastique autosomique récessive type 45 hrdo:pat_id_21721 613206 neant G11.4 320401 disease SPG44 SPG44 SPG44 Autosomal recessive spastic paraplegia type 44 Autosomal recessive spastic paraplegia type 44 Autosomal recessive spastic paraplegia type 44 Autosomal recessive spastic paraplegia type 44 Paraplejía espástica autosómica recesiva tipo 44 Paraplégie spastique autosomique récessive type 44 hrdo:pat_id_21722 609541 neant G11.4 320406 disease SPOAN SPOAN SPOAN Spastic paraplegia-optic atrophy-neuropathy syndrome Spastic paraplegia-optic atrophy-neuropathy syndrome Spastic paraplegia-optic atrophy-neuropathy syndrome Spastic paraplegia-optic atrophy-neuropathy syndrome Syndrome paraplégie spastique-atrophie optique-neuropathie Síndrome de paraplejía espásitica - atrofia óptica - neuropatía hrdo:pat_id_21723 615030 neant G11.4 320411 disease SPG49A SPG56 SPG56 Autosomal recessive spastic paraplegia type 49A Autosomal recessive spastic paraplegia type 49A Autosomal recessive spastic paraplegia type 49A Autosomal recessive spastic paraplegia type 56 Paraplejía espástica autosómica recesiva tipo 49A Paraplégie spastique autosomique récessive type 56 hrdo:pat_id_21728 320716 group of phenomes Maladies rares Rare disorders Rare disorders Rare disorders Rare disorders Trastornos raros hrdo:pat_id_2173 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 147770 C535882 Q87.8 2316 C0796002 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Alopecia - anosmia - deafness - hypogonadism Alopecia - anosmia - sordera - hipogonadismo Alopecia - anosmia - sordità - ipogonadismo Alopecia - anosmia - surdez - hipogonadismo, síndrome de Alopezie - Anosmie - Taubheit - Hypogonadismus Alopécie - anosmie - surdité - hypogonadisme Johnson-McMillin syndrome Johnson-Mcmillin-Syndrom Syndrome de Johnson-McMillin Síndrome de alopecia - anosmia - surdez - hipogonadismo Neuroectodermal syndrome, Johnson type Neuroektodermales Syndrom Typ Johnson Sindrome di Johnson-McMillin Syndrome neuroectodermique de Johnson Síndrome de Johnson-Mcmillin Síndrome neuro-ectodérmico de Johnson hrdo:pat_id_21746 322126 group of phenomes Genetic tumor of hematopoietic and lymphoid tissues Genetic tumor of hematopoietic and lymphoid tissues Genetic tumor of hematopoietic and lymphoid tissues Genetic tumor of hematopoietic and lymphoid tissues Tumeur génétique des tissus lymphoïde et hématopoïétique Tumor genético de tejidos hematopoyéticos y linfoides hrdo:pat_id_2175 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 216100 C537690 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=juberg+hayward+syndrome+OR+oro+cranio+digital Q87.0 2319 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cleft lip/palate - abnormal thumbs - microcephaly Fenda lábio-palatina - anomalia dos polegares - microcefalia Fente labio-palatine - anomalie des pouces - microcéphalie Fisura labiopalatina - anomalía de los pulgares - microcefalia Labiopalatoschisi - anomalia del pollice - microcefalia Lippenkiefergaumenspalte - Daumenanomalien - Mikrozephalie Oro-cranio-digital, síndrome Oro-kranio-digitales Syndrom Orocraniodigital syndrome Schisi labiopalatina - anomalia del pollice - microcefalia Sindrome oro-cranio-digitale Syndrome oro-cranio-digital Síndrome Oro-cranio-digital Síndrome oro-cranio-digital Juberg-Hayward syndrome Juberg-Hayward-Syndrom Sindrome di Juberg-Hayward Syndrome de Juberg-Hayward Síndrome de Juberg-Hayward Síndrome de Juberg-Hayward hrdo:pat_id_21758 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614831 neant G11.1 324262 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Ataxie cérébelleuse congénitale autosomique recessive par déficit en récepteur métabotrophique 1 du glutamate Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency Ataxie cérébelleuse congénitale autosomique recessive par déficit en MGLUR1 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency hrdo:pat_id_2176 601427 C537694 neant 2321 C1832362 malformation syndrome Jung-Wolff-Back-Stahl syndrome Jung-Wolff-Back-Stahl-Syndrom Sindrome di Jung-Wolff-Back-Stahl Syndrome de Jung-Wolff-Back-Stahl Síndrome de Jung-Wolff-Back-Stahl Síndrome de Jung-Wolff-Back-Stahl hrdo:pat_id_21760 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant G40.3 324290 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Early-onset Lafora body disease Early-onset Lafora body disease Early-onset Lafora body disease Early-onset Lafora body disease Early-onset Lafora body disease Maladie à corps de Lafora de début précoce hrdo:pat_id_21761 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant D84.8 324294 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Déficit immunitaire à cellules T par deficit en RHOH T-cell immunodeficiency due to RHOH deficiency Déficit immunitaire à cellules T avec épidermodysplasie verruciforme T-cell immunodeficiency with epidermodysplasia verruciformis T-cell immunodeficiency with epidermodysplasia verruciformis T-cell immunodeficiency with epidermodysplasia verruciformis T-cell immunodeficiency with epidermodysplasia verruciformis T-cell immunodeficiency with epidermodysplasia verruciformis hrdo:pat_id_21762 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 324299 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Multiple paragangliomas associated with polycythemia Multiple paragangliomas associated with polycythemia Multiple paragangliomas associated with polycythemia Multiple paragangliomas associated with polycythemia Multiple paragangliomas associated with polycythemia Paragangliomes multiples avec polycythémie hrdo:pat_id_21763 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant Q68.4 324307 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Incurvation latérale sévère du tibia avec petite taille Severe lateral tibial bowing with short stature Severe lateral tibial bowing with short stature Severe lateral tibial bowing with short stature Severe lateral tibial bowing with short stature Severe lateral tibial bowing with short stature hrdo:pat_id_21764 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q93.5 324313 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Del(9)(p13) Del(9)(p13) Monosomie 9p13 Monosomy 9p13 9p13 microdeletion syndrome 9p13 microdeletion syndrome 9p13 microdeletion syndrome 9p13 microdeletion syndrome 9p13 microdeletion syndrome Syndrome de microdélétion 9p13 hrdo:pat_id_21765 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614896 neant 324321 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dysfonction sinusale et surdité Sinoatrial node dysfunction and deafness Sinoatrial node dysfunction and deafness Sinoatrial node dysfunction and deafness Sinoatrial node dysfunction and deafness Sinoatrial node dysfunction and deafness hrdo:pat_id_21766 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant H47.4 324353 morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Achiasma congénital Congenital achiasma Congenital achiasma Congenital achiasma Congenital achiasma Congenital achiasma hrdo:pat_id_21767 neant Q87.0 324364 disease Dystrophie osseuse sclérosante mixte avec manifestations extra-squelettiques Mixed sclerosing bone dystrophy with extra-skeletal manifestations Mixed sclerosing bone dystrophy with extra-skeletal manifestations Mixed sclerosing bone dystrophy with extra-skeletal manifestations Mixed sclerosing bone dystrophy with extra-skeletal manifestations Mixed sclerosing bone dystrophy with extra-skeletal manifestations hrdo:pat_id_21769 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant G71.8 324381 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 HIBM4 HIBM4 Myopathie à inclusions héréditaire type 4 Hereditary inclusion body myopathy type 4 Hereditary inclusion body myopathy type 4 Hereditary inclusion body myopathy type 4 Hereditary inclusion body myopathy type 4 Hereditary inclusion body myopathy type 4 Myopathie à corps d'inclusion héréditaire type 4 hrdo:pat_id_2177 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 147920 300867 C537705 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Kabuki%5BAll+Fields%5D+AND+%28%22syndrome%22%5BMeSH+Terms%5D+OR+syndrome%5BText+Word%5D%29 Q87.0 2322 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Kabuki make-up Kabuki make-up syndrome Kabuki-Make-up-Syndrom Niikawa-Kuroki syndrome Niikawa-Kuroki, síndrome de Niikawa-Kuroki-Syndrom Sindrome Kabuki make-up Sindrome di Niikawa-Kuroki Syndrome de Niikawa-Kuroki Síndrome de Niikawa-Kuroki Síndrome de Niikawa-Kuroki Síndrome de maquillaje Kabuki Kabuki syndrome Kabuki-Syndrom Sindrome di Kabuki Syndrome de Kabuki Síndrome de Kabuki Síndrome de Kabuki hrdo:pat_id_21774 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300886 neant 324410 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Déficit intellectuel lié à l'X - cardiomegalie - insuffisance cardiaque congénitale X-linked intellectual deficit - cardiomegaly - congestive heart failure X-linked intellectual deficit - cardiomegaly - congestive heart failure X-linked intellectual deficit - cardiomegaly - congestive heart failure X-linked intellectual deficit - cardiomegaly - congestive heart failure X-linked intellectual deficit - cardiomegaly - congestive heart failure hrdo:pat_id_21776 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 324416 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hypertrophie musculaire - hépatomégalie - polyhydramnios Muscular hypertrophy - hepatomegaly - polyhydramnios Muscular hypertrophy - hepatomegaly - polyhydramnios Muscular hypertrophy - hepatomegaly - polyhydramnios Muscular hypertrophy - hepatomegaly - polyhydramnios Muscular hypertrophy - hepatomegaly - polyhydramnios hrdo:pat_id_21777 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300884 neant E77.8 324422 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anomalie congénitale de la glycosylation type 1s Anomalie congénitale de la glycosylation type Is CDG syndrome type Is CDG-1s CDG-1s CDG-Is CDG-Is Congenital disorder of glycosylation type 1s Congenital disorder of glycosylation type Is Syndrome CDG type Is Syndrome des glycoprotéines déficientes en hydrates de carbone type Is ALG13-CDG syndrome ALG13-CDG syndrome ALG13-CDG syndrome ALG13-CDG syndrome ALG13-CDG syndrome Syndrome ALG13-CDG hrdo:pat_id_21778 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 137200 neant G60.0 324442 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ARAN-NM ARAN-NM ARCMT2-NM ARCMT2-NM Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia Maladie de Charcot-Marie-Tooth autosomique récessive type 2 avec neuromyotonie Autosomal recessive axonal neuropathy with neuromyotonia Autosomal recessive axonal neuropathy with neuromyotonia Autosomal recessive axonal neuropathy with neuromyotonia Autosomal recessive axonal neuropathy with neuromyotonia Autosomal recessive axonal neuropathy with neuromyotonia Neuropathie axonale autosomique récessive avec neuromyotonie hrdo:pat_id_2178 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 241410 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Sanjad%5Btw%5D+Sakati%5Btw%5D+OR+%28Hypoparathyroidism%5Bti%5D+dysmorphi*%5Bti%5D%29 Q87.1 2323 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown HRD syndrome HRD-Syndrom Hipoparatiroidismo - atraso mental - dismorfias Hipoparatiroidismo - baixa estatura - atraso mental - convulsões Hipoparatiroidismo - déficit intelectual - dismorfismo Hipoparatiroidismo - estatura baja - déficit intelectual - convulsiones Hypoparathyroidism - intellectual deficit - dysmorphism Hypoparathyroidism - short stature - intellectual deficit - seizures Hypoparathyroidismus - geistige Retardierung - Dysmorphien Hypoparathyroïdie - déficit intellectuel - dysmorphie Hypoparathyroïdie - petite taille - déficit intellectuel - convulsions Ipoparatiroidismo - bassa statura - deficit cognitivo - convulsioni Ipoparatiroidismo - deficit cognitivo - dismorfismi Middle-East syndrome Middle-East-Syndrom Richadson-Kirk syndrome Richadson-Kirk-Syndrom SSS SSS SSS SSS SSS Sindrome HRD Sindrome del Medio Oriente Sindrome di Richardson-Kirk Syndrome HRD Syndrome de Richadson-Kirk Síndrome HRD Síndrome de Oriente Medio Síndrome de Richadson-Kirk Sanjad-Sakati syndrome Sanjad-Sakati-Syndrom Sindrome di Sanjad-Sakati Syndrome de Sanjad-Sakati Síndrome de Sanjad-Sakati Síndrome de Sanjad-Sakati hrdo:pat_id_21781 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 324525 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cardiomyopathie hypertrophique et tubulopathie dues à une mutation de l'ADNmt Hypertrophic cardiomyopathy and renal tubular disease due to mtDNA mutation Cardiomyopathie hypertrophique et tubulopathie dues à une mutation de l'ADN mitochondrial Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation hrdo:pat_id_21782 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614878 neant 324530 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 aPLAID aPLAID Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation Syndrome autoinflammatoire avec dérèglement et déficit immunitaire lié à PLCG2 hrdo:pat_id_21783 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614922 neant 324535 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 COXPD11 COXPD11 Combined oxidative phosphorylation defect type 11 Combined oxidative phosphorylation defect type 11 Combined oxidative phosphorylation defect type 11 Combined oxidative phosphorylation defect type 11 Combined oxidative phosphorylation defect type 11 Déficit combiné de la phosphorylation oxydative type 11 hrdo:pat_id_21784 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q87.0 324540 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Aphonia - deafness - retinal dystrophy - duplicated halluces - intellectual deficit Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual deficit Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual deficit Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual deficit Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual deficit Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual deficit Aphonie - surdité - dystrophie rétinienne - gros orteil bifide - déficit intéllectuel hrdo:pat_id_21785 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q82.8 324561 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cole disease Guttate hypopigmentation and punctate palmoplantar keratoderma Hypopigmentation and punctate keratosis of the palms and soles Maladie de Cole Hypopigmentation-punctate palmoplantar keratoderma syndrome Hypopigmentation-punctate palmoplantar keratoderma syndrome Hypopigmentation-punctate palmoplantar keratoderma syndrome Hypopigmentation-punctate palmoplantar keratoderma syndrome Hypopigmentation-punctate palmoplantar keratoderma syndrome Syndrome d'hypopigmentation-kératodermie palmoplantaire ponctuée hrdo:pat_id_21786 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614961 neant Q04.3 324569 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hypoplasie pontocérébelleuse type 8 Pontocerebellar hypoplasia type 8 Pontocerebellar hypoplasia type 8 Pontocerebellar hypoplasia type 8 Pontocerebellar hypoplasia type 8 Pontocerebellar hypoplasia type 8 hrdo:pat_id_21787 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant E16.1 324575 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hyperinsulinemic hypoglycemia due to HNF1A deficiency Hypoglycémie hyperinsulinémique par déficit en HNF1A Hyperinsulinism due to HNF1A deficiency Hyperinsulinism due to HNF1A deficiency Hyperinsulinism due to HNF1A deficiency Hyperinsulinism due to HNF1A deficiency Hyperinsulinism due to HNF1A deficiency Hyperinsulinisme par déficit en HNF1A hrdo:pat_id_21788 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant G71.2 324581 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Benign Samaritan congenital myopathy Benign Samaritan congenital myopathy Benign Samaritan congenital myopathy Benign Samaritan congenital myopathy Benign Samaritan congenital myopathy Myopathie congénitale bénine des samaritains hrdo:pat_id_21789 Variabel Variabile Variable Variable Variable Variable Variável neant G60.0 324585 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain Maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante avec douleurs neuropathiques hrdo:pat_id_2179 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 259690 C537706 2324 C1850140 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Osteopenia - atraso mental - cabelo rarefeito Osteopenia - déficit intelctual - hipotricosis Osteopenia - intellectual deficit - sparse hair Osteopenia - ritardo mentale - ipotricosi Osteopenie - geistige Retardierung - Hypotrichose Ostéopénie - déficit intellectuel - hypotrichose Kaler-Garrity-Stern syndrome Kaler-Garrity-Stern-Syndrom Sindrome di Kaler-Garrity-Stern Syndrome de Kaler-Garrity-Stern Síndrome de Kaler-Garrity-Stern Síndrome de Kaler-Garrity-Stern hrdo:pat_id_21790 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 606703 neant G24.8 G51.4 324588 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 FDFM Dyskinésie familiale avec myokymie faciale Familial dyskinesia and facial myokymia Familial dyskinesia and facial myokymia Familial dyskinesia and facial myokymia Familial dyskinesia and facial myokymia Familial dyskinesia and facial myokymia hrdo:pat_id_21791 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 303400 neant Q35 Q38.1 324601 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-dominant X-chromosomal-rezessiv X-linked dominant X-linked dominant X-linked recessive X-linked recessive malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Fente palatine et ankyloglossie liées à l'X X-linked cleft palate and ankyloglossia X-linked cleft palate and ankyloglossia X-linked cleft palate and ankyloglossia X-linked cleft palate and ankyloglossia X-linked cleft palate and ankyloglossia hrdo:pat_id_21792 neant G71.2 324604 clinical subtype Classic MmD Classic multiminicore disease MmD classique Classic multiminicore myopathy Classic multiminicore myopathy Classic multiminicore myopathy Classic multiminicore myopathy Classic multiminicore myopathy Myopathie à multi-minicores classique hrdo:pat_id_21793 neant G60.0 324611 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CMT due to KIF5A mutation Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation Maladie de Charcot-Marie-Tooth autosomique dominante type 2 par mutation de KIF5A hrdo:pat_id_21794 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável neant A92.0 324625 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Chikungunya Chikungunya Chikungunya Chikungunya Chikungunya Chikungunya hrdo:pat_id_21795 Variabel Variabile Variable Variable Variable Variable Variável neant B33.8 324632 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hendra virus infection Hendra virus infection Hendra virus infection Hendra virus infection Hendra virus infection Infection à virus Hendra hrdo:pat_id_21796 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 324636 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown GDS Gardner-Diamond syndrome Painful bruising syndrome Psychogenic purpura Purpura psychogène Syndrome de Gardner-Diamond Syndrome des ecchymoses douloureuses Autoerythrocyte sensitization syndrome Autoerythrocyte sensitization syndrome Autoerythrocyte sensitization syndrome Autoerythrocyte sensitization syndrome Autoerythrocyte sensitization syndrome Syndrome de sensibilisation aux érythrocytes hrdo:pat_id_21797 Variabel Variabile Variable Variable Variable Variable Variável neant A02 324648 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Invasive non-typhoidal salmonellosis Invasive non-typhoidal salmonellosis Invasive non-typhoidal salmonellosis Invasive non-typhoidal salmonellosis Invasive non-typhoidal salmonellosis Salmonellose non typhique invasive hrdo:pat_id_21798 605714 neant E85.4+ I68.0* 324703 clinical subtype HCHWA type Piedmont HCHWA, Piedmont type Hereditary cerebral hemorrhage with amyloidosis, Piedmont type Hereditary cerebral hemorrhage with amyloidosis, Piedmont type Hereditary cerebral hemorrhage with amyloidosis, Piedmont type Hereditary cerebral hemorrhage with amyloidosis, Piedmont type Hereditary cerebral hemorrhage with amyloidosis, Piedmont type Hémorragie cérébrale héréditaire avec amylose type Piedmont hrdo:pat_id_21799 605714 neant E85.4+ I68.0* 324708 clinical subtype HCHWA type Iowa HCHWA, Iowa type Hereditary cerebral hemorrhage with amyloidosis, Iowa type Hereditary cerebral hemorrhage with amyloidosis, Iowa type Hereditary cerebral hemorrhage with amyloidosis, Iowa type Hereditary cerebral hemorrhage with amyloidosis, Iowa type Hereditary cerebral hemorrhage with amyloidosis, Iowa type Hémorragie cérébrale héréditaire avec amylose type Iowa hrdo:pat_id_218 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 107480 C536974 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Townes-Brocks%5Btw%5D+NOT+%22animals%22%5BMeSH+Terms%3Anoexp%5D Q87.8 857 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Sindrome di Townes-Brocks Syndrome de Townes-Brocks Síndrome de Townes-Brocks Síndrome de Townes-Brocks Townes-Brocks syndrome Townes-Brocks-Syndrom hrdo:pat_id_2180 neant K00.0 Q81.0 2325 malformation syndrome Epidermólisis bullosa juntural de aparición tardía - déficit intelectual Gamborg-Nielsen syndrome Gamborg-Nielsen, síndrome de Gamborg-Nielsen-Syndrom Kallin syndrome Kallin-Syndrom Sindrome di Gamborg-Nielsen Sindrome di Kallin Syndrome de Gamborg-Nielsen Syndrome de Kallin Síndrome de Gamborg-Nielsen Síndrome de Kallin Epidermolisi bollosa semplice con anodontia/ipodontia Epidermolisis ampollosa simple con anodoncia/hipodoncia Epidermolyse bulleuse simple avec anodontie/hypodontie Epidermolysis bullosa simplex mit Anodontie/Hypodontie Epidermolysis bullosa simplex with anodontia/hypodontia Síndrome de Kallin hrdo:pat_id_21800 605714 neant E85.4+ I68.0* 324713 clinical subtype HCHWA type italien HCHWA, Italian type Hereditary cerebral hemorrhage with amyloidosis, Italian type Hereditary cerebral hemorrhage with amyloidosis, Italian type Hereditary cerebral hemorrhage with amyloidosis, Italian type Hereditary cerebral hemorrhage with amyloidosis, Italian type Hereditary cerebral hemorrhage with amyloidosis, Italian type Hémorragie cérébrale héréditaire avec amylose type italien hrdo:pat_id_21801 605714 neant E85.4+ I68.0* 324718 clinical subtype HCHWA type flamand HCHWA, Flemish type Hereditary cerebral hemorrhage with amyloidosis, Flemish type Hereditary cerebral hemorrhage with amyloidosis, Flemish type Hereditary cerebral hemorrhage with amyloidosis, Flemish type Hereditary cerebral hemorrhage with amyloidosis, Flemish type Hereditary cerebral hemorrhage with amyloidosis, Flemish type Hémorragie cérébrale héréditaire avec amylose type flamand hrdo:pat_id_21802 605714 neant E85.4+ I68.0* 324723 clinical subtype HCHWA type artique HCHWA, Arctic type Hereditary cerebral hemorrhage with amyloidosis, Arctic type Hereditary cerebral hemorrhage with amyloidosis, Arctic type Hereditary cerebral hemorrhage with amyloidosis, Arctic type Hereditary cerebral hemorrhage with amyloidosis, Arctic type Hereditary cerebral hemorrhage with amyloidosis, Arctic type Hémorragie cérébrale héréditaire avec amylose type artique hrdo:pat_id_21803 612379 neant E77.8 324737 disease Anomalie congénitale de la glycosylation par déficit en steroid 5alpha-reductase type 3 CDG-1q CDG-1q CDG-Iq CDG-Iq Congenital disorder of glycosylation due to steroid 5alpha-reductase type 3 deficiency SRD5A3-CDG syndrome SRD5A3-CDG syndrome SRD5A3-CDG syndrome SRD5A3-CDG syndrome SRD5A3-CDG syndrome Syndrome SRD5A3-CDG hrdo:pat_id_21804 neant Q87.1 324761 group of phenomes Microcephalic primordial dwarfism Microcephalic primordial dwarfism Microcephalic primordial dwarfism Microcephalic primordial dwarfism Microcephalic primordial dwarfism Nanisme microcéphalique primordial hrdo:pat_id_21805 neant Q87.8 324764 group of phenomes Syndrome tricho-rhino-phalangien Trichorhinophalangeal syndrome Trichorhinophalangeal syndrome Trichorhinophalangeal syndrome Trichorhinophalangeal syndrome Trichorhinophalangeal syndrome hrdo:pat_id_21806 324767 group of phenomes Maladie non familiale rare avec cardiomyopathie dilatée Non-familial rare disease with dilated cardiomyopathy Non-familial rare disease with dilated cardiomyopathy Non-familial rare disease with dilated cardiomyopathy Non-familial rare disease with dilated cardiomyopathy Non-familial rare disease with dilated cardiomyopathy hrdo:pat_id_21807 324924 group of phenomes Syndrome de fièvre périodique héréditaire Hereditary periodic fever syndrome Hereditary periodic fever syndrome Hereditary periodic fever syndrome Hereditary periodic fever syndrome Hereditary periodic fever syndrome Syndrome de fièvre récurrente héréditaire hrdo:pat_id_21808 324927 group of phenomes Pyogenic autoinflammatory syndrome Pyogenic autoinflammatory syndrome Pyogenic autoinflammatory syndrome Pyogenic autoinflammatory syndrome Pyogenic autoinflammatory syndrome Syndrome autoinflammatoire pyogène hrdo:pat_id_21809 324930 group of phenomes Granulomatous autoinflammatory syndrome Granulomatous autoinflammatory syndrome Granulomatous autoinflammatory syndrome Granulomatous autoinflammatory syndrome Granulomatous autoinflammatory syndrome Syndrome autoinflammatoire granulomateux hrdo:pat_id_21810 324933 group of phenomes Mixed autoinflammatory and autoimmune syndrome Mixed autoinflammatory and autoimmune syndrome Mixed autoinflammatory and autoimmune syndrome Mixed autoinflammatory and autoimmune syndrome Mixed autoinflammatory and autoimmune syndrome Syndrome mixte autoinflammatoire et autoimmun hrdo:pat_id_21811 324936 group of phenomes Syndrome autoinflammatoire non classé Unclassified autoinflammatory syndrome Unclassified autoinflammatory syndrome Unclassified autoinflammatory syndrome Unclassified autoinflammatory syndrome Unclassified autoinflammatory syndrome hrdo:pat_id_21812 neant E85.0 324939 group of phenomes Syndrome de fièvre périodique de l'enfant Periodic fever syndrome of childhood Periodic fever syndrome of childhood Periodic fever syndrome of childhood Periodic fever syndrome of childhood Periodic fever syndrome of childhood Syndrome de fièvre récurrente de l'enfant hrdo:pat_id_21813 324942 group of phenomes Pyogenic autoinflammatory syndrome of childhood Pyogenic autoinflammatory syndrome of childhood Pyogenic autoinflammatory syndrome of childhood Pyogenic autoinflammatory syndrome of childhood Pyogenic autoinflammatory syndrome of childhood Syndrome autoinflammatoire pyogène de l'enfant hrdo:pat_id_21814 324950 group of phenomes Granulomatous autoinflammatory syndrome of childhood Granulomatous autoinflammatory syndrome of childhood Granulomatous autoinflammatory syndrome of childhood Granulomatous autoinflammatory syndrome of childhood Granulomatous autoinflammatory syndrome of childhood Syndrome autoinflammatoire granulomateux de l'enfant hrdo:pat_id_21815 324953 group of phenomes Syndrome autoinflammatoire non classé de l'enfant Unclassified autoinflammatory syndrome of childhood Unclassified autoinflammatory syndrome of childhood Unclassified autoinflammatory syndrome of childhood Unclassified autoinflammatory syndrome of childhood Unclassified autoinflammatory syndrome of childhood hrdo:pat_id_21816 neant E85.0 324960 group of phenomes Fièvre périodique inexpliquée de l'enfant Fièvre récurrente inexpliquée de l'enfant Unexplained periodic fever syndrome of childhood Unexplained periodic fever syndrome of childhood Unexplained periodic fever syndrome of childhood Unexplained periodic fever syndrome of childhood Unexplained periodic fever syndrome of childhood hrdo:pat_id_21817 259680 neant M86.3 324964 disease CRMO CRMO OMCR Chronic recurrent multifocal osteomyelitis Chronic recurrent multifocal osteomyelitis Chronic recurrent multifocal osteomyelitis Chronic recurrent multifocal osteomyelitis Chronic recurrent multifocal osteomyelitis Ostéomyélite multifocale chronique récurrente hrdo:pat_id_21818 324972 disease Aphtose bipolaire avec chondrites récidivantes Mouth and genital ulcers with inflamed cartilage MAGIC syndrome MAGIC syndrome MAGIC syndrome MAGIC syndrome MAGIC syndrome Syndrome MAGIC hrdo:pat_id_21819 256040 neant 324977 disease PMSB8 deficiency Déficit en PMSB8 Proteasome disability syndrome Proteasome disability syndrome Proteasome disability syndrome Proteasome disability syndrome Proteasome disability syndrome hrdo:pat_id_2182 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 244300 C537008 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=cleft+lip+palate+facial+eye+heart+intestinal Q87.8 2328 C0796005 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cleft lip/palate - facial, eye, heart and intestinal anomalies Fenda lábio-palatina - anomalias facio-óculo-cardio-intestinais Fente labio-palatine - cardiopathie - malrotation intestinale Labiopalatoschisi - cardiopatia - malrotazione intestinale Lippen-Kiefer-Gaumenspalte - Kardiopathie - intestinale Malrotation Kapur-Toriello syndrome Kapur-Toriello-Syndrom Sindrome di Kapur-Toriello Syndrome de Kapur-Toriello Síndrome de Kapur-Toriello Síndrome de Kapur-Toriello hrdo:pat_id_21820 neant M86.3 324982 clinical subtype Adult-onset synovitis-acne-pustulosis-hyperostosis-osteitis syndrome Syndrome de synovite-acné-pustulose-hyperostose-ostéite de l'adulte Adult-onset SAPHO syndrome Adult-onset SAPHO syndrome Adult-onset SAPHO syndrome Adult-onset SAPHO syndrome Adult-onset SAPHO syndrome Syndrome SAPHO de l'adulte hrdo:pat_id_21821 neant M86.3 324989 clinical subtype Juvenile-onset synovitis-acne-pustulosis-hyperostosis-osteitis syndrome Syndrome de synovite-acné-pustulose-hyperostose-ostéite de l'enfant Juvenile-onset SAPHO syndrome Juvenile-onset SAPHO syndrome Juvenile-onset SAPHO syndrome Juvenile-onset SAPHO syndrome Juvenile-onset SAPHO syndrome Syndrome SAPHO de l'enfant hrdo:pat_id_21822 256040 neant 324999 clinical subtype Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome Syndrome de contractures articulaires-atrophy musculaire-anémie microcytique-panniculite lipoatrophiante JMP syndrome JMP syndrome JMP syndrome JMP syndrome JMP syndrome Syndrome JMP hrdo:pat_id_21823 256040 neant 325004 clinical subtype Chromic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome Syndrome de dermatose neutrophile atypique chonique-lipodystrophie-fièvre CANDLE syndrome CANDLE syndrome CANDLE syndrome CANDLE syndrome CANDLE syndrome Syndrome CANDLE hrdo:pat_id_21827 neant 325055 group of phenomes 46,XX disorder of gonadal development 46,XX disorder of gonadal development 46,XX disorder of gonadal development 46,XX disorder of gonadal development 46,XX disorder of gonadal development Anomalie du développement des gonades 46,XX hrdo:pat_id_21828 325061 group of phenomes 46,XX DSD induced by fetoplacental androgens excess ADS 46,XX due à un excès d'androgènes fœtoplacental DSD 46,XX due à un excès d'androgènes fœtoplacental 46,XX disorder of sex development induced by fetoplacental androgens excess 46,XX disorder of sex development induced by fetoplacental androgens excess 46,XX disorder of sex development induced by fetoplacental androgens excess 46,XX disorder of sex development induced by fetoplacental androgens excess 46,XX disorder of sex development induced by fetoplacental androgens excess Anomalie du développement sexuel 46,XX due à un excès d'androgènes fœtoplacental hrdo:pat_id_21829 325093 group of phenomes 46,XX DSD induced by endogenous maternal-derived androgen ADS 46,XX due aux androgènes d'origine maternelle endogène DSD 46,XX due aux androgènes d'origine maternelle endogène 46,XX disorder of sex development induced by endogenous maternal-derived androgen 46,XX disorder of sex development induced by endogenous maternal-derived androgen 46,XX disorder of sex development induced by endogenous maternal-derived androgen 46,XX disorder of sex development induced by endogenous maternal-derived androgen 46,XX disorder of sex development induced by endogenous maternal-derived androgen Anomalie du développement sexuel 46,XX due aux androgènes d'origine maternelle endogène hrdo:pat_id_2183 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 183800 C537319 neant Q87.2 2329 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Ectrodactilia nas mãos e pés - nistagmo Main et pied fendus - nystagmus Manos y pies hendidos - nistagmo Schisi delle mani e dei piedi - nistagmo Spalthand/Spaltfuß - Nystagmus Split hand/split foot - nystagmus Karsch-Neugebauer syndrome Karsch-Neugebauer-Syndrom Sindrome di Karsck-Neugebauer Syndrome de Karsck-Neugebauer Síndrome de Karsch-Neugebauer Síndrome de Karsck-Neugebauer hrdo:pat_id_21830 325099 group of phenomes 46,XX DSD induced by exogenous maternal-derived androgen ADS 46,XX due aux androgènes d'origine maternelle exogène DSD 46,XX due aux androgènes d'origine maternelle exogène 46,XX disorder of sex development induced by exogenous maternal-derived androgen 46,XX disorder of sex development induced by exogenous maternal-derived androgen 46,XX disorder of sex development induced by exogenous maternal-derived androgen 46,XX disorder of sex development induced by exogenous maternal-derived androgen 46,XX disorder of sex development induced by exogenous maternal-derived androgen Anomalie du développement sexuel 46,XX due aux androgènes d'origine maternelle exogène hrdo:pat_id_21831 325109 group of phenomes Syndrome avec ADS 46,XX Syndrome avec DSD 46,XX Syndrome with 46,XX DSD Syndrome avec une anomalie du développement sexuel 46,XX Syndrome with 46,XX disorder of sex development Syndrome with 46,XX disorder of sex development Syndrome with 46,XX disorder of sex development Syndrome with 46,XX disorder of sex development Syndrome with 46,XX disorder of sex development hrdo:pat_id_21832 neant 325118 group of phenomes 46,XY disorder of gonadal development 46,XY disorder of gonadal development 46,XY disorder of gonadal development 46,XY disorder of gonadal development 46,XY disorder of gonadal development Anomalie du développement des gonades 46,XY hrdo:pat_id_21833 neant Q55.0 325124 morphological anomaly Anorchidie bilatérale Bilateral anorchia Agénésie testiculaire Testicular agenesis Testicular agenesis Testicular agenesis Testicular agenesis Testicular agenesis hrdo:pat_id_21838 325345 disease 46,XY ovotesticular DSD 46,XY ovotesticular DSD ADS ovotesticulaire 46,XY 46,XY ovotesticular disorder of sex development 46,XY ovotesticular disorder of sex development 46,XY ovotesticular disorder of sex development 46,XY ovotesticular disorder of sex development 46,XY ovotesticular disorder of sex development Anomalies ovotesticulaires du développement sexuel 46,XY hrdo:pat_id_21839 325351 group of phenomes 46,XY DSD of endocrine origin ADS 46,XY d'origine endocrine DSD 46,XY d'origine endocrine 46,XY disorder of sex development of endocrine origin 46,XY disorder of sex development of endocrine origin 46,XY disorder of sex development of endocrine origin 46,XY disorder of sex development of endocrine origin 46,XY disorder of sex development of endocrine origin Anomalie du développement sexuel 46,XY d'origine endocrine hrdo:pat_id_2184 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 148050 C537015 neant Q87.8 2332 C0220687 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Baixa estatura - anomalias faciais/ósseas - atraso mental - macrodontia Bassa statura - anomalie facioscheletriche - ritardo mentale - macrodonzia Estatura baja - anomalías faciales y esqueléticas - déficit intelectual - macrodoncia KBG-ähnliches Syndrom Kleinwuchs - faziale/skelettale Anomalien - geistige Retardierung - Makrodontie Petite taille - anomalies faciales et squelettiques - déficit intellectuel - macrodontie Short stature - facial and skeletal anomalies - intellectual deficit - macrodontia Sindrome K.B.G. Sindrome KBG-simile Syndrome de K.B.G. KBG syndrome KBG-Syndrom Sindrome KBG Syndrome KBG Síndrome KBG Síndrome KBG hrdo:pat_id_21840 325357 group of phenomes 46,XY DSD due to impaired androgen production ADS 46,XY par défaut de production d'androgènes DSD 46,XY par défaut de production d'androgènes 46,XY disorder of sex development due to impaired androgen production 46,XY disorder of sex development due to impaired androgen production 46,XY disorder of sex development due to impaired androgen production 46,XY disorder of sex development due to impaired androgen production 46,XY disorder of sex development due to impaired androgen production Anomalie du développement sexuel 46,XY par défaut de production d'androgènes hrdo:pat_id_21841 325448 clinical subtype 46,XY DSD due to LHB deficiency 46,XY DSD due to luteinizing hormone subunit beta deficiency 46,XY disorder of sex development due to LHB deficiency 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency ADS 46,XY par déficit en LHB ADS 46,XY par déficit en hormone lutéinisante bêta Anomalie du développement sexuel 46,XY par déficit en hormone lutéinisante bêta DSD 46,XY par déficit en hormone lutéinisante bêta Hypoplasie des cellules de Leydig par déficit en hormone lutéinisante bêta Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency Hypoplasie des cellules de Leydig par déficit en LHB Leydig cell hypoplasia due to LHB deficiency Leydig cell hypoplasia due to LHB deficiency Leydig cell hypoplasia due to LHB deficiency Leydig cell hypoplasia due to LHB deficiency Leydig cell hypoplasia due to LHB deficiency hrdo:pat_id_21842 325511 group of phenomes 46,XY DSD due to cholesterol synthesis defect ADS 46,XY par défaut de syndthèse du cholestérol DSD 46,XY par défaut de syndthèse du cholestérol 46,XY disorder of sex development due to cholesterol synthesis defect 46,XY disorder of sex development due to cholesterol synthesis defect 46,XY disorder of sex development due to cholesterol synthesis defect 46,XY disorder of sex development due to cholesterol synthesis defect 46,XY disorder of sex development due to cholesterol synthesis defect Anomalie du développement sexuel 46,XY par défaut de syndthèse du cholestérol hrdo:pat_id_21843 325524 clinical subtype CLAH classique Classic CLAH Classic congenital lipoid adrenal hyperplasia due to STAR deficency Classic congenital lipoid adrenal hyperplasia due to STAR deficency Classic congenital lipoid adrenal hyperplasia due to STAR deficency Classic congenital lipoid adrenal hyperplasia due to STAR deficency Classic congenital lipoid adrenal hyperplasia due to STAR deficency Hyperplasie congénitale lipoïde classique des surrénales par deficit en STAR hrdo:pat_id_21844 325529 clinical subtype CLAH non classique non-classic CLAH Hyperplasie congénitale lipoïde non classique des surrénales par deficit en STAR Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency hrdo:pat_id_21845 325537 group of phenomes 46,XY DSD induced by maternal-exposure to endocrine disruptors ADS 46,XY par exposition maternelle à des perturbateurs endocriniens DSD 46,XY par exposition maternelle à des perturbateurs endocriniens 46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors 46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors 46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors 46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors 46,XY disorder of sex development induced by maternal-exposure to endocrine disruptors Anomalie du développement sexuel 46,XY par exposition maternelle à des perturbateurs endocriniens hrdo:pat_id_21846 325546 group of phenomes ADS due à une anomalie des chromosomes sexuels ADS due à une anomalie des gonosomes Anomalie du développement sexuel due à une anomalie des gonosomes DSD due à une anomalie des chromosomes sexuels DSD due à une anomalie des gonosomes Sex chromosome DSD Anomalie du développement sexuel due à une anomalie des chromosomes sexuels Sex chromosome disorder of sex development Sex chromosome disorder of sex development Sex chromosome disorder of sex development Sex chromosome disorder of sex development Sex chromosome disorder of sex development hrdo:pat_id_21848 325620 group of phenomes ADS d'intérêt gynécologique DSD d'intérêt gynécologique DSD of gynecological interest Anomalie du développement sexuel d'intérêt gynécologique Disorder of sex development of gynecological interest Disorder of sex development of gynecological interest Disorder of sex development of gynecological interest Disorder of sex development of gynecological interest Disorder of sex development of gynecological interest hrdo:pat_id_21849 325632 group of phenomes 46,XY DSD of gynecological interest ADS 46,XY d'intérêt gynécologique DSD 46,XY d'intérêt gynécologique 46,XY disorder of sex development of gynecological interest 46,XY disorder of sex development of gynecological interest 46,XY disorder of sex development of gynecological interest 46,XY disorder of sex development of gynecological interest 46,XY disorder of sex development of gynecological interest Anomalie du développement sexuel 46,XY d'intérêt gynécologique hrdo:pat_id_2185 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter C537020 neant Q87.1 2333 82837002 C0265291 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Kenny syndrome Kenny, síndrome de Kenny-Syndrom Sindrome di Kenny Syndrome de Kenny Síndrome de Kenny Síndrome de Kenny Kenny-Caffey syndrome Kenny-Caffey-Syndrom Sindrome di Kenny-Caffey Syndrome de Kenny-Caffey Síndrome de Kenny-Caffey Síndrome de Kenny-Caffey hrdo:pat_id_21850 325638 group of phenomes Syndrome avec ADS d'intérêt gynécologique Syndrome avec DSD d'intérêt gynécologique Syndrome with DSD of gynecological interest Syndrome avec anomalie du développement sexuel d'intérêt gynécologique Syndrome with disorder of sex development of gynecological interest Syndrome with disorder of sex development of gynecological interest Syndrome with disorder of sex development of gynecological interest Syndrome with disorder of sex development of gynecological interest Syndrome with disorder of sex development of gynecological interest hrdo:pat_id_21851 325665 group of phenomes ADS d'origine génétique d'intérêt gynécologique DSD d'origine génétique d'intérêt gynécologique Genetic DSD of gynecological interest Anomalie du développement sexuel d'origine génétique d'intérêt gynécologique Genetic disorder of sex development of gynecological interest Genetic disorder of sex development of gynecological interest Genetic disorder of sex development of gynecological interest Genetic disorder of sex development of gynecological interest Genetic disorder of sex development of gynecological interest hrdo:pat_id_21856 325690 group of phenomes ADS d'origine génétique DSD d'origine génétique Genetic DSD Anomalie du développement sexuel d'origine génétique Genetic disorder of sex development Genetic disorder of sex development Genetic disorder of sex development Genetic disorder of sex development Genetic disorder of sex development hrdo:pat_id_21857 325697 group of phenomes ADS 46,XX d'origine génétique DSD 46,XX d'origine génétique Genetic 46,XX DSD Genetic female pseudohermaphrodism Pseudohermaphrodisme féminin d'origine génétique Anomalie du développement sexuel 46,XX d'origine génétique Genetic 46,XX disorder of sex development Genetic 46,XX disorder of sex development Genetic 46,XX disorder of sex development Genetic 46,XX disorder of sex development Genetic 46,XX disorder of sex development hrdo:pat_id_21858 325706 group of phenomes 46,XY DSD d'origine génétique ADS 46,XY d'origine génétique Genetic 46,XY DSD Anomalie du développement sexuel 46,XY d'origine génétique Genetic 46,XY disorder of sex development Genetic 46,XY disorder of sex development Genetic 46,XY disorder of sex development Genetic 46,XY disorder of sex development Genetic 46,XY disorder of sex development hrdo:pat_id_21859 325713 group of phenomes ADS 46,XY d'origine endocrine et génétique DSD 46,XY d'origine endocrine et génétique Genetic 46,XY DSD of endocrine origin Anomalie du développement sexuel 46,XY d'origine endocrine et génétique Genetic 46,XY disorder of sex development of endocrine origin Genetic 46,XY disorder of sex development of endocrine origin Genetic 46,XY disorder of sex development of endocrine origin Genetic 46,XY disorder of sex development of endocrine origin Genetic 46,XY disorder of sex development of endocrine origin hrdo:pat_id_2186 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 148300 608586 608932 609271 614622 614623 614628 614629 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%28%22keratoconus%22%5BMH%5D+OR+Keratoconus%5BTW%5D%29+AND+posticus%5BAll%5D+AND+circumscriptus%5Btw%5D%29+OR+conical+cornea%5Btw%5D H18.6 2335 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 Cheratocono isolato Isolated keratoconus Keratokonus, isolierter Kératocône isolé Queratocono aislado Queratoconus posticus circumscriptus hrdo:pat_id_2188 600231 http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=pubmed&details_term=%28Keratoderma+OR+keratosis%29+%28Bothni*+OR+norrbotten+dominant%29 Q82.8 2337 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Autosomal dominant diffuse palmoplantar keratoderma, Norrbotten type Cheratodermia palmoplantare diffusa autosomico dominante, tipo Norrbotten KPP non épidermolytique Keratodermatose, diffuse palmoplantare, bottnischer Typ Kératodermie palmoplantaire diffuse autosomique dominante type Norrbotten NEPPK NEPPK NEPPK NEPPK Queratodermia palmoplantar difusa autosómica dominante, tipo Norrbotten Cheratoderma palmoplantare non epidermolitico Kératodermie palmoplantaire non épidermolytique Non-epidermolytic palmoplantar keratoderma Palmoplantarkeratose, diffuse, dominanter Typ Norbotten Queratodermia palmo-plantar difusa tipo Bothnian Queratodermia palmoplantar no epidermolítica hrdo:pat_id_21889 328269 group of phenomes Rare bone disease with limb hypoplasia Maladie osseuse rare avec anomalie réductionnelle des membres Rare bone disease with limb reduction defect Rare bone disease with limb reduction defect Rare bone disease with limb reduction defect Rare bone disease with limb reduction defect Rare bone disease with limb reduction defect hrdo:pat_id_2189 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(keratoderm*%5Bti%5D+(palmoplantar*+OR+palmo+plantar)+OR+keratoderma,+palmoplantar)+(Punctate+OR+papulosa)+OR+(Buschke+Fischer%5Btw%5D) Q82.8 2338 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate group of phenomes Brauer-Buschke-Fischer-Syndrom Hiperqueratosis palmoplantar punctata aislada Hyperkératose palmoplantaire ponctuée isolée Ipercheratosi palmoplantare puntata isolata Isolated punctate KPP Isolated punctate PPK Isolated punctate PPK Isolated punctate palmoplantar hyperkeratosis PPK PPK isolato puntato PPK punctata aislada Palmoplantarkeratose, punktierte Cheratoderma palmoplantare puntato isolato Isolated punctate palmoplantar keratoderma Kératodermie palmoplantaire ponctuée isolée Palmoplantarkeratose, hereditäre punktierte Queratodermia palmo-plantar pontuada hereditária Queratodermia palmoplantar punctata aislada hrdo:pat_id_219 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 193500 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=waardenburgs+syndrome%5Bmajr%5D E70.3 894 C1847800 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Sindrome di Waardenburg, tipo 1 Syndrome de Waardenburg type 1 Síndrome de Waardenburg tipo 1 Síndrome de Waardenburg tipo 1 Waardenburg syndrome type 1 Waardenburg-Syndrom Typ 1 hrdo:pat_id_2190 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 124500 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Keratoderma%5Bti%5D+hereditarium+mutilans+OR+Vohwinkel%27s%5Bti%5D+OR+Vohwinkel%5Bti%5D Q82.8 494 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Cheratoderma mutilante di Vohwinkel Cheratoderma mutilante e sordità KPP mutilante et surdité Kératodermie mutilante de Vohwinkel Kératodermie mutilante et surdité Mutilating keratoderma of Vohwinkel Mutilating keratoderma plus deafness PPK mutilans and deafness PPK mutilans e sordità PPK mutilans et surdité PPK mutilante y sordera Queratodermia mutilante de Vohwinkel Queratodermia mutilante más sordera Sindrome di Vohwinkel Syndrome de Vohwinkel Síndrome de Vohvinkel Síndrome de Vohwinkel Vohvinkel, síndrome de Vohwinkel syndrome Vohwinkel-Syndrom Keratoderma hereditarium mutilans Keratoderma hereditarium mutilans Keratoderma hereditarium mutilans Kératodermie aïnhumoïde et mutilante Queratodermia hereditaria mutilante Queratodermia hereditária mutilante hrdo:pat_id_21903 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 329173 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis Syndrome autoinflammatoire avec infection bactérienne pyogénique et amylopectinose hrdo:pat_id_21904 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 615042 neant E77.8 329178 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anomalie congénitale de la glycosylation type Iu CDG syndrome type Iu CDG-Iu CDG-Iu CDG1U CDG1U Carbohydrate deficient glycoprotein syndrome type Iu Congenital disorder of glycosylation type Iu Syndrome CDG type Iu Syndrome des glycoprotéines déficientes en hydrates de carbone type Iu DPM2-CDG syndrome DPM2-CDG syndrome DPM2-CDG syndrome DPM2-CDG syndrome DPM2-CDG syndrome Syndrome DPM2-CDG hrdo:pat_id_21905 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 329191 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Tall stature - scoliosis - macrodactyly of the halluces Grande taille - scoliose - macrodactylie du gros orteil Tall stature - scoliosis - macrodactyly of the great toes Tall stature - scoliosis - macrodactyly of the great toes Tall stature - scoliosis - macrodactyly of the great toes Tall stature - scoliosis - macrodactyly of the great toes Tall stature - scoliosis - macrodactyly of the great toes hrdo:pat_id_21906 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 329195 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Developmental delay with ASD and gait instability Developmental delay with autism spectrum disorder and gait instability Developmental delay with autism spectrum disorder and gait instability Developmental delay with autism spectrum disorder and gait instability Developmental delay with autism spectrum disorder and gait instability Developmental delay with autism spectrum disorder and gait instability Retard de développement avec autisme et démarche instable hrdo:pat_id_21907 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613155 neant 329206 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Congenital muscular dystrophy - muscle hypertrophy - intellectual deficit due to POMT1 Dystrophie musculaire congénitale - hypertrophie musculaire - déficit intellectuel par déficit en POMT1 Congenital muscular dystrophy - muscle hypertrophy - severe intellectual deficit Congenital muscular dystrophy - muscle hypertrophy - severe intellectual deficit Congenital muscular dystrophy - muscle hypertrophy - severe intellectual deficit Congenital muscular dystrophy - muscle hypertrophy - severe intellectual deficit Congenital muscular dystrophy - muscle hypertrophy - severe intellectual deficit Dystrophie musculaire congénitale - hypertrophie musculaire - déficit intellectuel sévère hrdo:pat_id_21908 Variabel Variabile Variable Variable Variable Variable Variável 193235 neant 329211 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ADNIV ADNIV Autosomal dominant neovascular inflammatory vitreoretinopathy Autosomal dominant neovascular inflammatory vitreoretinopathy Autosomal dominant neovascular inflammatory vitreoretinopathy Autosomal dominant neovascular inflammatory vitreoretinopathy Autosomal dominant neovascular inflammatory vitreoretinopathy Vitréorétinopathie inflammatoire néovasculaire autosomique dominante hrdo:pat_id_21909 Variabel Variabile Variable Variable Variable Variable Variável 329217 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CSVT CSVT Thrombose sino-veineuse cérébrale Cerebral sinovenous thrombosis Cerebral sinovenous thrombosis Cerebral sinovenous thrombosis Cerebral sinovenous thrombosis Cerebral sinovenous thrombosis Thromboses des veines et sinus cérébraux hrdo:pat_id_2191 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 308830 C536158 neant Q87.1 2339 C1839910 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cheratosi follicolare - nanismo - atrofia cerebrale Keratosis follicularis - Kleinwuchs - zerebrale Atrophie Keratosis follicularis - dwarfism - cerebral atrophy Kératose folliculaire - nanisme - atrophie cérébrale Queratose folicular - nanismo - atrofia cerebral Queratosis folicular enanismo atrofia cerebral hrdo:pat_id_21910 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 615009 neant 329224 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Déficit intellectuel - dysmorphie craniofaciale - cryptorchidie Intellectual deficit - craniofacial dysmorphism - cryptorchidism Intellectual deficit - craniofacial dysmorphism - cryptorchidism Intellectual deficit - craniofacial dysmorphism - cryptorchidism Intellectual deficit - craniofacial dysmorphism - cryptorchidism Intellectual deficit - craniofacial dysmorphism - cryptorchidism hrdo:pat_id_21911 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 615095 neant 329228 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Microcephalic primordial dwarfism, Walsh type Nanisme primordial microcéphalique type Walsh Microcephalic primordial dwarfism due to ZNF335 deficiency Microcephalic primordial dwarfism due to ZNF335 deficiency Microcephalic primordial dwarfism due to ZNF335 deficiency Microcephalic primordial dwarfism due to ZNF335 deficiency Microcephalic primordial dwarfism due to ZNF335 deficiency Nanisme primordial microcéphalique par déficit en ZNF335 hrdo:pat_id_21913 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300888 neant 329235 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 X-linked central congenital hypothyroidism with late-onset macroorchidism Hypothyroïdie congénitale centrale avec macroorchidie tardive liée à l'X X-linked central congenital hypothyroidism with late-onset testicular enlargement X-linked central congenital hypothyroidism with late-onset testicular enlargement X-linked central congenital hypothyroidism with late-onset testicular enlargement X-linked central congenital hypothyroidism with late-onset testicular enlargement X-linked central congenital hypothyroidism with late-onset testicular enlargement hrdo:pat_id_21914 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 329242 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Congenital chronic diarrhea with exudative enteropathy Diarrhée chronique congénitale avec entéropathie exsudative Congenital chronic diarrhea with protein-losing enteropathy Congenital chronic diarrhea with protein-losing enteropathy Congenital chronic diarrhea with protein-losing enteropathy Congenital chronic diarrhea with protein-losing enteropathy Congenital chronic diarrhea with protein-losing enteropathy Diarrhée chronique congénitale avec perte de protéines hrdo:pat_id_21916 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 329249 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Obésité sévère précoce avec résistance à l'insuline par déficit en SH2B1 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency hrdo:pat_id_21917 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 329252 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dysostose spondylo-costale - hypospadias - déficit intellectuel Spondylocostal dysostosis - hypospadias - intellectual deficit Spondylocostal dysostosis - hypospadias - intellectual deficit Spondylocostal dysostosis - hypospadias - intellectual deficit Spondylocostal dysostosis - hypospadias - intellectual deficit Spondylocostal dysostosis - hypospadias - intellectual deficit hrdo:pat_id_21918 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 615057 neant 329255 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency Syndrome de blépharophimosis-déficit intellectuel par déficit en UBE3B hrdo:pat_id_21919 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 615025 neant G60.0 329258 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CMT2Q CMT2Q Autosomal dominant Charcot-Marie-Tooth disease type 2Q Autosomal dominant Charcot-Marie-Tooth disease type 2Q Autosomal dominant Charcot-Marie-Tooth disease type 2Q Autosomal dominant Charcot-Marie-Tooth disease type 2Q Autosomal dominant Charcot-Marie-Tooth disease type 2Q Maladie de Charcot-Marie-Tooth autosomique dominante type 2Q hrdo:pat_id_2192 308800 612843 C536159 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=keratosis+follicularis+spinulosa+decalvans Q82.8 2340 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Cheratosi follicolare spinulosa decalvante di Siemens Keratosis follicularis spinulosa decalvans Keratosis follicularis spinulosa decalvans Kératose folliculaire spinulosa decalvans de Siemens Queratose folicular - spinula decalvans Queratosis folicular spinulosa decalvans de Siemens hrdo:pat_id_21922 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 300894 neant G23.0 329284 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 BPAN BPAN Encéphalopathie statique de l'enfant avec neurodégénérescence chez l'adulte NBIA4 NBIA4 Neurodegeneration with brain iron accumulation type 4 Neurodégénérescence avec surcharge cérébrale en fer type 4 SENDA SENDA Static encephalopathy of childhood with neurdegeneration in adulthood Beta-propeller protein-associated neurodegeneration Beta-propeller protein-associated neurodegeneration Beta-propeller protein-associated neurodegeneration Beta-propeller protein-associated neurodegeneration Beta-propeller protein-associated neurodegeneration Neurodégénérescence associée à une protéine beta-propeller hrdo:pat_id_21923 neant G23.0 329303 group of phenomes PLAN PLAN Neurodégénérescence associée à PLA2G6 PLA2G6-associated neurodegeneration PLA2G6-associated neurodegeneration PLA2G6-associated neurodegeneration PLA2G6-associated neurodegeneration PLA2G6-associated neurodegeneration hrdo:pat_id_21924 neant G23.0 329308 disease FAHN FAHN Neurodégénérescence associée à la fatty acid hydroxylase Fatty acid hydroxylase-associated neurodegeneration Fatty acid hydroxylase-associated neurodegeneration Fatty acid hydroxylase-associated neurodegeneration Fatty acid hydroxylase-associated neurodegeneration Fatty acid hydroxylase-associated neurodegeneration Neurodégénérescence associée à FA2H hrdo:pat_id_21925 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 329314 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency Syndrome de délétions multiples de l'ADNmt de l'adulte par déficit en DGUOK Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency Syndrome de délétions multiples de l'ADN mitochondrial de l'adulte par déficit en DGUOK hrdo:pat_id_21926 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q87.2 329319 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Familial thrombocytosis with transverse limb defect Thrombocytose familiale avec anomalie réductionnelle transverse des membres Hereditary thrombocytosis with transverse limb defect Hereditary thrombocytosis with transverse limb defect Hereditary thrombocytosis with transverse limb defect Hereditary thrombocytosis with transverse limb defect Hereditary thrombocytosis with transverse limb defect Thrombocytose héréditaire avec anomalie réductionnelle transverse des membres hrdo:pat_id_21927 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 329324 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cutaneous hemangioma with muscle or bone atrophy Hémangiome cutané avec atrophie osseuse ou musculaire Inverse Klippel-Trenaunay syndrome Inverse Klippel-Trenaunay syndrome Inverse Klippel-Trenaunay syndrome Inverse Klippel-Trenaunay syndrome Inverse Klippel-Trenaunay syndrome Syndrome de Klippel-Trenaunay inverse hrdo:pat_id_21928 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 329329 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Autosomal recessive frontotemporal pachygyria Autosomal recessive frontotemporal pachygyria Autosomal recessive frontotemporal pachygyria Autosomal recessive frontotemporal pachygyria Autosomal recessive frontotemporal pachygyria Pachygyrie frontotemporale autosomique récessive hrdo:pat_id_21929 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614407 neant 329332 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome Syndrome de microcéphalie-hypoplasie cérébelleuse-trouble de la conduction cardiaque hrdo:pat_id_21930 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 329336 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Herencia mitocondrial Hérédité mitochondriale Mitochondrial inheritance Mitochondrial inheritance Mitochondriale Vererbung Modo de hereditariedade mitocondrial Trasmissione mitocondriale disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Adult-onset CPEO with mitochondrial myopathy OEP chronique de l'adulte avec myopathie mitochondriale Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy Ophtalmoplégie externe progressive chronique de l'adulte avec myopathie mitochondriale hrdo:pat_id_21931 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 329341 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Encéphalite limbique avec anticorps anti-dipeptidyl-peptidase 6 Limbic encephalitis with dipeptidyl-peptidase 6 antibodies Encéphalite limbique avec anticorps anti-DPP6 Limbic encephalitis with DPP6 antibodies Limbic encephalitis with DPP6 antibodies Limbic encephalitis with DPP6 antibodies Limbic encephalitis with DPP6 antibodies Limbic encephalitis with DPP6 antibodies hrdo:pat_id_21933 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 615065 neant 329457 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Arthrogrypose distale type 5 sans ophtalmoparésie Arthrogrypose distale type 5 sans ophtalmoplégie DA5D DA5D Distal arthrogryposis type 5 without ophthalmoparesis Distal arthrogryposis type 5 without ophthalmoplegia Arthrogrypose distale type 5D Distal arthrogryposis type 5D Distal arthrogryposis type 5D Distal arthrogryposis type 5D Distal arthrogryposis type 5D Distal arthrogryposis type 5D hrdo:pat_id_21934 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 615073 neant 329466 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Autosomal dominant focal dystonia, DYT25 Autosomal dominant focal dystonia, DYT25 Autosomal dominant focal dystonia, DYT25 Autosomal dominant focal dystonia, DYT25 Autosomal dominant focal dystonia, DYT25 Dystonie focale autosomique dominante, DYT25 hrdo:pat_id_21935 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 329469 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Leucémie aiguë mégacaryoblastique sans syndrome de Down Non-DS-AMKL Non-DS-AMKL Acute megakaryoblastic leukemia without Down syndrome Acute megakaryoblastic leukemia without Down syndrome Acute megakaryoblastic leukemia without Down syndrome Acute megakaryoblastic leukemia without Down syndrome Acute megakaryoblastic leukemia without Down syndrome Leucémie aiguë mégacaryoblastique sans trisomie 21 hrdo:pat_id_21937 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 329475 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Paraplégie spastique - maladie de Paget Spastic paraplegia - Paget disease of bone Spastic paraplegia - Paget disease of bone Spastic paraplegia - Paget disease of bone Spastic paraplegia - Paget disease of bone Spastic paraplegia - Paget disease of bone hrdo:pat_id_21938 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant G71.0 329478 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Adult-onset distal myopathy due to VCP mutation Adult-onset distal myopathy due to VCP mutation Adult-onset distal myopathy due to VCP mutation Adult-onset distal myopathy due to VCP mutation Adult-onset distal myopathy due to VCP mutation Myopathie distale de l'adulte due à des mutations de VCP hrdo:pat_id_21939 Variabel Variabile Variable Variable Variable Variable Variável 611771 neant 329481 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Glomérulopathie à lipoprotéines LPG LPG Glomérulopathie lipoprotéinique Lipoprotein glomerulopathy Lipoprotein glomerulopathy Lipoprotein glomerulopathy Lipoprotein glomerulopathy Lipoprotein glomerulopathy hrdo:pat_id_2194 245010 C537627 neant Q82.8 2342 C1855627 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cheratoderma palmoplantare - periodontopatia - onicogriposi Cheratosi palmoplantare - periodontopatia - onicogriposi Hiperqueratosis palmoplantar - periodontopatía - onicogriposis Hyperkératose palmoplantaire - périodontopathie - onychogrypose Ipercheratosi palmoplantare - periodontopatia - onicogriposi Keratosis palmoplantaris - Parodontopathie - Onychogryphosis Keratosis palmoplantaris - periodontopathia - onychogryposis Kératodermie palmoplantaire - périodontopathie - onychogrypose Palmoplantar hyperkeratosis - periodontopathia - onychogryposis Palmoplantar keratoderma - periodontopathia - onychogryposis Queratodermia palmoplantar - periodontopatía - onicogriposis Queratosis palmoplantar - periodontopatía - onicogriposis Haim-Munk syndrome Haim-Munk-Syndrom Queratose palmo-plantar - periodontopatia - onicogripose Sindrome di Haim-Munk Syndrome de Haim-Munk Síndrome de Haim-Munk hrdo:pat_id_21940 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613174 neant Q92.3 329802 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dup(5)(p13) Dup(5)(p13) Trisomie 5p13 Trisomy 5p13 5p13 microduplication syndrome 5p13 microduplication syndrome 5p13 microduplication syndrome 5p13 microduplication syndrome 5p13 microduplication syndrome Syndrome de microduplication 5p13 hrdo:pat_id_21941 329813 malformation syndrome Androgenetic/biparental mosaicism Genome-wide paternal uniparental disomy mosaicism Mosaic genome-wide paternal UPD Mosaïque androgénétique/biparentale Disomie uniparentale d'origine paternelle en mosaïque Mosaic genome-wide paternal uniparental disomy Mosaic genome-wide paternal uniparental disomy Mosaic genome-wide paternal uniparental disomy Mosaic genome-wide paternal uniparental disomy Mosaic genome-wide paternal uniparental disomy hrdo:pat_id_21942 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 329874 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown IGCM IGCM Myocardite idiopathique gigantocellulaire Idiopathic giant cell myocarditis Idiopathic giant cell myocarditis Idiopathic giant cell myocarditis Idiopathic giant cell myocarditis Idiopathic giant cell myocarditis Myocardite idiopathique à cellules géantes hrdo:pat_id_21943 329883 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Gastrite hypertrophique sans perte de protéines Hypertrophic gastropathy without hypoproteinemia Gastropathie hypertrophique sans hypoprotéinémie Non-hypoproteinemic hypertrophic gastropathy Non-hypoproteinemic hypertrophic gastropathy Non-hypoproteinemic hypertrophic gastropathy Non-hypoproteinemic hypertrophic gastropathy Non-hypoproteinemic hypertrophic gastropathy hrdo:pat_id_21944 329888 group of phenomes JIIM JIIM MIIJ Juvenile idiopathic inflammatory myopathy Juvenile idiopathic inflammatory myopathy Juvenile idiopathic inflammatory myopathy Juvenile idiopathic inflammatory myopathy Juvenile idiopathic inflammatory myopathy Myopathie inflammatoire idiopathique juvénile hrdo:pat_id_21945 329894 disease Juvenile overlap myositis Juvenile overlap myositis Juvenile overlap myositis Juvenile overlap myositis Juvenile overlap myositis Myosite de chevauchement juvénile hrdo:pat_id_21946 615008 neant 329903 75888001 C0268742 C1720821 clinical subtype GNMP médiée par les Ig GNMP médiée par les immunoglobulines Glomérulonéphrite membranoproliférative médiée par les Ig Ig-mediated MPGN Ig-mediated membranoproliferative glomerulonephritis Immunoglobulin-mediated MPGN MPGN médiée par les Ig MPGN médiée par les immunoglobulines Glomérulonéphrite membranoproliférative médiée par les immunoglobulines Immunoglobulin-mediated membranoproliferative glomerulonephritis Immunoglobulin-mediated membranoproliferative glomerulonephritis Immunoglobulin-mediated membranoproliferative glomerulonephritis Immunoglobulin-mediated membranoproliferative glomerulonephritis Immunoglobulin-mediated membranoproliferative glomerulonephritis hrdo:pat_id_21947 609814 614809 neant 329918 clinical subtype C3 glomerulopathy GNMP non médiée par les Ig GNMP non médiée par les immunoglobulines Glomérulonéphrite membranoproliférative non médiée par les Ig Glomérulopathie à dépôts de C3 MPGN non médiée par les Ig MPGN non médiée par les immunoglobulines Non-Ig-mediated MPGN Non-Ig-mediated membranoproliferative glomerulonephritis Non-immunoglobulin-mediated MPGN Glomérulonéphrite membranoproliférative non médiée par les immunoglobulines Non-immunoglobulin-mediated membranoproliferative glomerulonephritis Non-immunoglobulin-mediated membranoproliferative glomerulonephritis Non-immunoglobulin-mediated membranoproliferative glomerulonephritis Non-immunoglobulin-mediated membranoproliferative glomerulonephritis Non-immunoglobulin-mediated membranoproliferative glomerulonephritis hrdo:pat_id_21948 614809 neant 329931 clinical subtype C3 glomerulonephritis C3 glomerulonephritis C3 glomerulonephritis C3 glomerulonephritis C3 glomerulonephritis Glomérulonéphrite à dépôts de C3 hrdo:pat_id_21949 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 615026 neant 329942 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acidurie glutarique type 2 néonatale transitoire Déficit maternel en riboflavine Déficit néonatal transitoire en MAD MADD néonatal transitoire Maternal riboflavin deficiency Transient neonatal MAD deficiency Transient neonatal MADD Transient neonatal glutaric aciduria type 2 Déficit néonatal transitoire en multiple acyl-CoA déshydrogenase Transient neonatal multiple acyl-CoA dehydrogenase deficiency Transient neonatal multiple acyl-CoA dehydrogenase deficiency Transient neonatal multiple acyl-CoA dehydrogenase deficiency Transient neonatal multiple acyl-CoA dehydrogenase deficiency Transient neonatal multiple acyl-CoA dehydrogenase deficiency hrdo:pat_id_21950 329967 disease Hydarthrose intermittente Intermittent hydrarthrosis Intermittent hydrarthrosis Intermittent hydrarthrosis Intermittent hydrarthrosis Intermittent hydrarthrosis hrdo:pat_id_21951 Variabel Variabile Variable Variable Variable Variable Variável 174900 neant 329971 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Generalized juvenile polyposis/juvenile polyposis coli Generalized juvenile polyposis/juvenile polyposis coli Generalized juvenile polyposis/juvenile polyposis coli Generalized juvenile polyposis/juvenile polyposis coli Generalized juvenile polyposis/juvenile polyposis coli Polypose juvénile généralisée/Polypose juvénile colorectale hrdo:pat_id_21952 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 329977 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Classic appendiceal endocrine tumor Classic appendix endocrine tumor Tumeur endocrine appendiculaire classique Classic endocrine tumor of the appendix Classic endocrine tumor of the appendix Classic endocrine tumor of the appendix Classic endocrine tumor of the appendix Classic endocrine tumor of the appendix Tumeur endocrine classique de l'appendice hrdo:pat_id_21953 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 329984 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown GCC GCC Goblet cell adenocarcinoid Goblet cell carcinoid Goblet cell tumor Tumeur adénocarcinoïde à cellules caliciformes Tumeur carcinoïde à cellules caliciformes Carcinome à cellules caliciforrmes Goblet cell carcinoma Goblet cell carcinoma Goblet cell carcinoma Goblet cell carcinoma Goblet cell carcinoma hrdo:pat_id_21954 329998 particular clinical situation in a disease or syndrome Lymphomatous meningitis Lymphomatous meningitis Lymphomatous meningitis Lymphomatous meningitis Lymphomatous meningitis Méningite lymphomateuse hrdo:pat_id_21955 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 330001 disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Amylose systémique sénile Senile systemic amyloidosis Senile systemic amyloidosis Senile systemic amyloidosis Senile systemic amyloidosis Senile systemic amyloidosis hrdo:pat_id_21956 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 330006 disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Macular telangiectasia type 2 Macular telangiectasia type 2 Macular telangiectasia type 2 Macular telangiectasia type 2 Macular telangiectasia type 2 Télangiectasie maculaire type 2 hrdo:pat_id_21957 330009 particular clinical situation in a disease or syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Poliomyelitis in patients with immunodeficiencies deemed at risk Poliomyelitis in patients with immunodeficiencies deemed at risk Poliomyelitis in patients with immunodeficiencies deemed at risk Poliomyelitis in patients with immunodeficiencies deemed at risk Poliomyelitis in patients with immunodeficiencies deemed at risk Poliomyélite chez les patients immunodéprimés hrdo:pat_id_21958 330012 particular clinical situation in a disease or syndrome 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 High altitude pulmonary edema High altitude pulmonary edema High altitude pulmonary edema High altitude pulmonary edema High altitude pulmonary edema Traitement de l'oedème pulmonaire de haute altitude hrdo:pat_id_21959 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant T56.0 330015 disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Lead intoxication Saturnism Saturnisme Intoxication au plomb Lead poisoning Lead poisoning Lead poisoning Lead poisoning Lead poisoning hrdo:pat_id_21960 neant T56.1 330021 disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Hydrargyria Hydrargyrie Mercurialism Mercurialisme Mercury intoxication Intoxication au mercure Mercury poisoning Mercury poisoning Mercury poisoning Mercury poisoning Mercury poisoning hrdo:pat_id_21961 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 330029 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hypotrichosis-deafness syndrome Hypotrichosis-deafness syndrome Hypotrichosis-deafness syndrome Hypotrichosis-deafness syndrome Hypotrichosis-deafness syndrome Syndrome d'hypotrichose-surdité hrdo:pat_id_21962 neant D56.1 330032 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown HbLepore - beta-thalassemia HbLepore - bêta-thalassémie Lepore - beta-thalassemia Lepore-bêta-thalassémie Thalassémie bêta - HbLepore Thalassémie bêta - hémoglobine Lepore Hemoglobin Lepore - beta-thalassemia Hemoglobin Lepore - beta-thalassemia Hemoglobin Lepore - beta-thalassemia Hemoglobin Lepore - beta-thalassemia Hemoglobin Lepore - beta-thalassemia Hémoglobine Lepore - bêta-thalassémie hrdo:pat_id_21963 neant D74.0 330041 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hemoglobin M disease Hereditary methemoglobinemia due to hemoglobin mutation Hémoglobinopathie M Hémoglobinose M M hemoglobinopathy Méthémoglobinémie héréditaire par mutation de l'hémoglobine Autosomal dominant methemoglobinemia Autosomal dominant methemoglobinemia Autosomal dominant methemoglobinemia Autosomal dominant methemoglobinemia Autosomal dominant methemoglobinemia Méthémoglobinémie autosomique dominante hrdo:pat_id_21964 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614388 neant 330050 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Encéphalopathie létale par défaut de fission des mitochondries et péroxysomes Encéphalopathie létale par défaut de fission mitochondriale et péroxisomale Lethal encephalopathy due to mitochondrial and peroxisomal fission defect Lethal encephalopathy due to mitochondrial and peroxisomal fission defect Lethal encephalopathy due to mitochondrial and peroxisomal fission defect Lethal encephalopathy due to mitochondrial and peroxisomal fission defect Lethal encephalopathy due to mitochondrial and peroxisomal fission defect hrdo:pat_id_21965 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613076 neant 330054 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Congenital cataract - progressive muscular hypotonia - deafness - developmental delay Cataracte congénitale - hypotonie musculaire progressive - surdité - retard de développement Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay Congenital cataract - progressive muscular hypotonia - hearing loss - developmental delay hrdo:pat_id_21966 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant L56.4 330058 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Hydroa vacciniforme Hydroa vacciniforme Hydroa vacciniforme Hydroa vacciniforme Hydroa vacciniforme Hydroa vacciniforme hrdo:pat_id_21967 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 330061 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Actinic prurigo Actinic prurigo Actinic prurigo Actinic prurigo Actinic prurigo Prurigo actinique hrdo:pat_id_21968 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 330064 disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Chronic actinic dermatitis Chronic actinic dermatitis Chronic actinic dermatitis Chronic actinic dermatitis Chronic actinic dermatitis Dermatite actinique chronique hrdo:pat_id_21969 330197 group of phenomes Genetic MCA/variable MR Genetic multiple congenital anomalies - variable intellectual deficit with or without dysmorphism MCA/MR variable d'origine génétique Anomalies congénitales multiples - déficit intellectuel variable d'origine génétique Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit hrdo:pat_id_21970 330206 group of phenomes Anomalies congénitales variables sans reatrd mental (avec ou sans dysmorphie) d'origine génétique Genetic MCA Genetic multiple congenital anomalies without intellectual deficit (with or without dysmorphism) MCA d'origine génétique Anomalies congénitales multiples sans déficit intellectuel d'origine génétique Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit hrdo:pat_id_2198 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 156550 C537207 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Kniest+dysplasia%5BAll+Fields%5D Q77.7 485 53974002 C0265279 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Kniest-Syndrom Diplasia di Kniest Displasia de Kniest Displasia de Kniest Dysplasie de Kniest Kniest dysplasia Kniest-Dysplasie hrdo:pat_id_2199 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 245190 C537208 neant Q77.8 2347 C1855605 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia Kniest-like letal Displasia Kniest-like letal Displasia Kniest-simile, forma letale Dysplasie létale Kniest-like Kniest-ähnliche Dysplasie, letale Lethal Kniest-like dysplasia hrdo:pat_id_21992 612541 neant D70 331176 disease Neutropénie congénitale sévère - hypertension artérielle pulmonaire - ectasie veineuse superficielle Neutropénie congénitale sévère 4 SCN4 Severe congenital neutropenia - pulmonary hypertension - superficial venous angiectasis Severe congenital neutropenia 4 Autosomal recessive severe congenital neutropenai due to G6PC3 deficiency Autosomal recessive severe congenital neutropenai due to G6PC3 deficiency Autosomal recessive severe congenital neutropenai due to G6PC3 deficiency Autosomal recessive severe congenital neutropenai due to G6PC3 deficiency Autosomal recessive severe congenital neutropenai due to G6PC3 deficiency Neutropénie congénitale sévère autosomique récessive par déficit en G6PC3 hrdo:pat_id_21993 331184 group of phenomes Constitutional neutropenia with extra-haematopoietic manifestations Constitutional neutropenia with extra-haematopoietic manifestations Constitutional neutropenia with extra-haematopoietic manifestations Constitutional neutropenia with extra-haematopoietic manifestations Constitutional neutropenia with extra-haematopoietic manifestations Neutropénie constitutionnelle avec manifestations extra-hématopïétiques hrdo:pat_id_21994 613791 neant D84.1 331187 Immunodeficiency due to MASP-2 deficiency Immunodeficiency due to MASP-2 deficiency Immunodeficiency due to MASP-2 deficiency Immunodeficiency due to MASP-2 deficiency Immunodeficiency due to MASP-2 deficiency Immunodéficience par déficit en MASP-2 hrdo:pat_id_21995 613860 neant D84.1 331190 disease Immunodeficiency due to ficolin3 deficiency Immunodeficiency due to ficolin3 deficiency Immunodeficiency due to ficolin3 deficiency Immunodeficiency due to ficolin3 deficiency Immunodeficiency due to ficolin3 deficiency Immunodéficience par déficit en ficoline 3 hrdo:pat_id_21996 331193 group of phenomes Autre syndrome d'immunodéficience par défaut de l'immunité innée Other immunodeficiency syndromes due to defects in innate immunity Other immunodeficiency syndromes due to defects in innate immunity Other immunodeficiency syndromes due to defects in innate immunity Other immunodeficiency syndromes due to defects in innate immunity Other immunodeficiency syndromes due to defects in innate immunity hrdo:pat_id_21997 601457 neant 331206 disease SCID due to complete RAG1/2 deficiency SCID par déficit complet en RAG1/2 Immunodéficience combinée sévère par déficit complet en RAG1/2 Severe combined immunodeficiency due to complete RAG1/2 deficiency Severe combined immunodeficiency due to complete RAG1/2 deficiency Severe combined immunodeficiency due to complete RAG1/2 deficiency Severe combined immunodeficiency due to complete RAG1/2 deficiency Severe combined immunodeficiency due to complete RAG1/2 deficiency hrdo:pat_id_21998 331217 group of phenomes Autre syndrome d'immunodéficience par défauts de l'immunité adaptative Other immunodeficiency syndrome due to defects in adaptive immunity Other immunodeficiency syndrome due to defects in adaptive immunity Other immunodeficiency syndrome due to defects in adaptive immunity Other immunodeficiency syndrome due to defects in adaptive immunity Other immunodeficiency syndrome due to defects in adaptive immunity hrdo:pat_id_21999 331220 group of phenomes Immunodeficiency due to absence of thymus Immunodeficiency due to absence of thymus Immunodeficiency due to absence of thymus Immunodeficiency due to absence of thymus Immunodeficiency due to absence of thymus Immunodéficience par absence de thymus hrdo:pat_id_22 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 245200 10023492 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22globoid+cell+leukodystrophy%22%5BText+Word%5D+OR+Krabbe+disease%5BText+Word%5D+OR+%22leukodystrophy%2C+globoid+cell%22%5BMeSH+Terms%5D E75.2 487 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficit di galattocerebrosidasi Deficiência de galactocerebrosidase Déficit en galactocérébrosidase Galactocerebrosidase deficiency Galactocerebrosidase, deficiência de Galaktosylzeramidase-Mangel Galaktozerebrosidase-Mangel Globoid cell leukodystrophy Globoidzell-Leukodystrophie Leucodistrofia a cellule globoidi Leucodistrofia de células globóides Leucodystrophie à cellules globoïdes Doença de Krabbe Enfermedad de Krabbe Krabbe disease Krabbe-Syndrom Maladie de Krabbe Malattia di Krabbe hrdo:pat_id_220 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 103470 193510 600193 606662 608890 611584 C536463 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=waardenburg%27s+syndrome%5Bmajr%5D+AND+%28%22type+2%22+OR+%22type+ii%22%29 E70.3 895 C2700265 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Sindrome di Waardenburg, tipo 2 Syndrome de Waardenburg type 2 Síndrome de Waardenburg tipo 2 Síndrome de Waardenburg tipo 2 Waardenburg syndrome type 2 Waardenburg-Syndrom Typ 2 hrdo:pat_id_2200 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 151660 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=dunnigan%5Btw%5D E88.1 2348 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dunnigan syndrome Dunnigan syndrome Dunningan-Syndrom FPLD2 FPLD2 FPLD2 Familial partial lipodystrophy type 2 LDPF2 Lipodistrofia familiare parziale, tipo 2 (FPLD2) Lipodistrofia parcial familiar tipo 2 (FPLD2) Lipodistrofia parziale familiare, tipo 2 Lipodistrofia, familiar parcial, tipo 2 Lipodystrophie partielle familiale type 2 Lipodystrophie, familiäre partielle, Typ 2 (FPLD2) Sindrome di Dunnigan Syndrome de Dunnigan Síndrome de Dunnigan Familial partial lipodystrophy, Dunnigan type Lipodistrofia familiar parcial, tipo Dunnigan Lipodistrofia parcial familiar tipo Dunnigan Lipodistrofia parziale familiare, tipo Dunnigan Lipodystrophie partielle familiale de Dunnigan Lipodystrophie, familiäre partielle, Typ Dunningan hrdo:pat_id_22000 neant D82.4 331223 group of phenomes Hyper IgE syndrome Hyper IgE syndrome Hyper IgE syndrome Hyper IgE syndrome Hyper IgE syndrome Syndrome hyperIgE hrdo:pat_id_22001 611521 neant D82.4 331226 etiological subtype AR-HIES due to TYK2 deficiency AR-hyper IgE syndrome due to TYK2 deficiency Autosomal recessive hyper IgE syndrome due to TYK2 deficiency Autosomal recessive hyper IgE syndrome due to TYK2 deficiency Autosomal recessive hyper IgE syndrome due to TYK2 deficiency Autosomal recessive hyper IgE syndrome due to TYK2 deficiency Autosomal recessive hyper IgE syndrome due to TYK2 deficiency Syndrome hyper IgE autosomique récessif par déficit en TYK2 hrdo:pat_id_22002 331232 group of phenomes Immunodeficiency with isotype or ligth chain deficiencies with normal number of B-cells Immunodeficiency with isotype or ligth chain deficiencies with normal number of B-cells Immunodeficiency with isotype or ligth chain deficiencies with normal number of B-cells Immunodeficiency with isotype or ligth chain deficiencies with normal number of B-cells Immunodeficiency with isotype or ligth chain deficiencies with normal number of B-cells Immunodéficience avec déficit d'isotype ou de chaînes légères et nombre normal de cellules B hrdo:pat_id_22003 neant D80.4 331235 disease Déficit sélectif en immunoglobuline M Selective immunoglobulin M deficiency Déficit sélectif en IgM Selective IgM deficiency Selective IgM deficiency Selective IgM deficiency Selective IgM deficiency Selective IgM deficiency hrdo:pat_id_22004 331240 group of phenomes Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells Immunodéficience avec diminution sévère des IgG et IgA et taux normal ou élevé d'IgM avec nombre normal de cellules B hrdo:pat_id_22005 neant D80.8 331244 group of phenomes Autre syndrome d'immundéficience par déficit de production d'anticorps Other immunodeficiency syndrome with predominantly antibody defects Other immunodeficiency syndrome with predominantly antibody defects Other immunodeficiency syndrome with predominantly antibody defects Other immunodeficiency syndrome with predominantly antibody defects Other immunodeficiency syndrome with predominantly antibody defects hrdo:pat_id_22006 neant E70.3 331249 group of phenomes Immunodeficiency syndrome with hypopigmentation Immunodeficiency syndrome with hypopigmentation Immunodeficiency syndrome with hypopigmentation Immunodeficiency syndrome with hypopigmentation Immunodeficiency syndrome with hypopigmentation Syndrome d'immunodéficience et hypopigmentation hrdo:pat_id_2201 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q87.8 2351 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Meningocele del sacro - cardiopatia troncoconale Meningocelo sagrado - cardiopatia conotruncal Meningocèle sacré - anomalie conotroncale Sacral meningocele - conotroncal heart defects Kousseff syndrome Kousseff-Syndrom Sindrome di Kousseff Syndrome de Kousseff Síndrome de Kousseff Síndrome de Kousseff hrdo:pat_id_2202 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 164220 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Hypotelorism%5Bti%5D+cleft+palate+hypospadias+OR+Schilbach+Rott%5Btw%5D Q87.0 2353 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 BRSS BRSS BRSS BRSS Blepharo-facio-skeletal syndrome Blepharo-fazio-skeletales Syndrom Hipotelorismo - fenda do palato - hipospadias Hipotelorismo - paladar hendido - hipospadias Hypotelorism - cleft palate - hypospadias Hypotelorismus - Gaumenspalte - Hypospadie Hypotélorisme - fente palatine - hypospadias Ipotelorismo - palatoschisi - ipospadia Sindrome blefaro-facio-scheletrica Syndrome blépharo-facio-squelletique Síndrome blefaro-facio-esquelético Schilbach-Rott syndrome Schilbach-Rott-Syndrom Sindrome di Schilbach-Rott Syndrome de Schilbach-Rott Síndrome de Krieble-Bixler Síndrome de Schilbach-Rott hrdo:pat_id_2204 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 106990 2355 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anoniquia - onicodistrofia - braquidactilia tipo B - ectrodactilia Anonychie - Onychodystrophie - Brachydaktylie Typ B - Ektrodaktylie Anoníquia - onicodistrofia - braquidactilia tipo B Displasia ungueale - camptodattilia - brachidattilia tipo B Dysplasie des ongles - camptodactylie - brachydactylie type B Nail dysplasia - camptodactyly - brachydactyly type B Kumar-Levick syndrome Kumar-Levick-Syndrom Sindrome di Kumar-Levick Syndrome de Kumar-Levick Síndrome de Kumar Levick Síndrome de Kumar-Levick hrdo:pat_id_22046 352298 group of phenomes Canalopathie musculaire génétique Genetic muscular channelopathy Genetic muscular channelopathy Genetic muscular channelopathy Genetic muscular channelopathy Genetic muscular channelopathy hrdo:pat_id_22047 352301 group of phenomes Disorder of phospholipids, sphingolipids and fatty acids biosynthesis Disorder of phospholipids, sphingolipids and fatty acids biosynthesis Disorder of phospholipids, sphingolipids and fatty acids biosynthesis Disorder of phospholipids, sphingolipids and fatty acids biosynthesis Disorder of phospholipids, sphingolipids and fatty acids biosynthesis Trouble de la synthèse des phospholipides, sphingolipides et acides gras hrdo:pat_id_22049 352306 group of phenomes Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement Trouble de la synthèse des phospholipides, sphingolipides et acides gras avec atteinte prédominante du système nerveux central hrdo:pat_id_22050 352309 group of phenomes Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement Trouble de la synthèse des phospholipides, sphingolipides et acides gras avec atteinte prédominante des nerfs périphériques hrdo:pat_id_22051 352312 group of phenomes Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement Trouble de la synthèse des phospholipides, sphingolipides et acides gras avec atteinte prédominante des muscles squelettiques hrdo:pat_id_22056 352328 disease 3-methylglutaconic aciduria with deafness - encephalopathy - Leigh-like syndrome Acidurie 3-méthylglutaconique - surdité - encéphalopathie - syndrome Leigh-like MEGDEL syndrome MEGDEL syndrome MEGDEL syndrome MEGDEL syndrome MEGDEL syndrome Syndrome MEGDEL hrdo:pat_id_22057 352333 disease Congenital ichthyosis - intellectual deficit - spastic tetraplegia Ichthyose congénitale - déficit intellectuel - tetraplégie spastique Congenital ichthyosis - intellectual deficit - spastic quadriplegia Congenital ichthyosis - intellectual deficit - spastic quadriplegia Congenital ichthyosis - intellectual deficit - spastic quadriplegia Congenital ichthyosis - intellectual deficit - spastic quadriplegia Congenital ichthyosis - intellectual deficit - spastic quadriplegia Ichthyose congénitale - déficit intellectuel - quadriplégie spastique hrdo:pat_id_22058 352403 disease Ataxie cérébelleuse autosomique récessive - déficit cognitif Ataxie cérébelleuse autosomique récessive type 1 associée à la spectrine Autosomal recessive cerebellar ataxia - cognitive defect SPARCA SPARCA SPARCA1 SPARCA1 Spectrin-associated autosomal recessive cerebellar ataxia type 1 Ataxie cérébelleuse autosomique récessive associée à la spectrine Spectrin-associated autosomal recessive cerebellar ataxia Spectrin-associated autosomal recessive cerebellar ataxia Spectrin-associated autosomal recessive cerebellar ataxia Spectrin-associated autosomal recessive cerebellar ataxia Spectrin-associated autosomal recessive cerebellar ataxia hrdo:pat_id_22063 352447 disease Mitochondrial DNA maintenance syndrome due to MGME1 deficiency OEP - myopathie - émaciation OEP - myopathie - émaciement Ophtalmoplégie externe progressive - myopathie - émaciement PEO - myopathy - emaciation Syndrome de maintenance de l'ADN mitochondrial par déficit en MGME1 Syndrome de maintenance de l'ADNmt par déficit en MGME1 mtDNA maintenance syndrome due to MGME1 deficiency Ophtalmoplégie externe progressive - myopathie - émaciation Progressive external ophthalmoplegia - myopathy - emaciation Progressive external ophthalmoplegia - myopathy - emaciation Progressive external ophthalmoplegia - myopathy - emaciation Progressive external ophthalmoplegia - myopathy - emaciation Progressive external ophthalmoplegia - myopathy - emaciation hrdo:pat_id_22064 352456 group of phenomes Syndrome de maintenance de l'ADNmt mtDNA maintenance syndrome Mitochondrial DNA maintenance syndrome Mitochondrial DNA maintenance syndrome Mitochondrial DNA maintenance syndrome Mitochondrial DNA maintenance syndrome Mitochondrial DNA maintenance syndrome Syndrome de maintenance de l'ADN mitochondrial hrdo:pat_id_22065 352470 disease Mitochondrial DNA deletion syndrome with limb-girdle weakness Syndrome de deletion de l'ADNmt avec faiblesse musculaire des ceintures Syndrome de délétion de l'ADN mitochondrial avec faiblesse musculaire des ceintures Syndrome de délétion de l'ADNmt avec myopathie progressive mtDNA deletion syndrome with progressive myopathy mtDNA deletion syndromesyndrome with limb-girdle weakness Mitochondrial DNA deletion syndrome with progressive myopathy Mitochondrial DNA deletion syndrome with progressive myopathy Mitochondrial DNA deletion syndrome with progressive myopathy Mitochondrial DNA deletion syndrome with progressive myopathy Mitochondrial DNA deletion syndrome with progressive myopathy Syndrome de délétion de l'ADN mitochondrial avec myopathie progressive hrdo:pat_id_22066 352479 disease Autosomal recessive LGMD due to ISPD deficiency Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency Autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency Dystrophie musculaire des ceintures autosomique récessive par déficit en ISPD hrdo:pat_id_22067 352482 disease Autosomal recessive LGMD with cerebellar involvement Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement Dystrophie musculaire des ceintures autosomique récessive avec anomalie cérébelleuse hrdo:pat_id_22068 352487 disease Anomalies digitales - déficit intellectuel - petite taille Digital anomalies - intellectual deficit - short stature Digital anomalies - intellectual deficit - short stature Digital anomalies - intellectual deficit - short stature Digital anomalies - intellectual deficit - short stature Digital anomalies - intellectual deficit - short stature hrdo:pat_id_22069 352490 disease ASD due to AUTS2 deficiency AUTS2 syndrome Syndrome AUTS2 Autism spectrum disorder due to AUTS2 deficiency Autism spectrum disorder due to AUTS2 deficiency Autism spectrum disorder due to AUTS2 deficiency Autism spectrum disorder due to AUTS2 deficiency Autism spectrum disorder due to AUTS2 deficiency Spectre autistique par déficit en AUTS2 hrdo:pat_id_2207 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 149730 neant Q87.8 2363 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 LADD syndrome LADD, síndrome de LADD-Syndrom LARD syndrome LARD-Syndrom Lacrimo-auriculo-radio-dental syndrome Lakrimo-aurikulo-radio-dentales Syndrom Levy-Hollister syndrome Levy-Hollister, síndrome de Levy-Hollister-Syndrom Sindrome LADD Sindrome LARD Sindrome di Levy-Hollister Sindrome lacrimo-auriculo-radio-dentale Syndrome LADD Syndrome LARD Syndrome de Levy-Hollister Syndrome lacrimo-auriculo-radio-dental Síndrome LADD Síndrome LARD Síndrome de LADD Síndrome de Levy Hollister Síndrome de Levy-Hollister Síndrome lacrimo-aurículo-radio-dental Lacrimo-auriculo-dento-digital syndrome Lakrimo-aurikulo-dento-digitales Syndrom Sindrome lacrimo-auriculo-dento-digitale Syndrome lacrimo-auriculo-dento-digital Síndrome lacrimo-auriculo-dento-digital Síndrome lacrimo-aurículo-dento-digital hrdo:pat_id_22070 352497 disease Juvenile parkinsonism with intellectual deficit due to DNAJC6 deficiency Juvenile parkinsonism with intellectual deficit due to DNAJC6 deficiency Juvenile parkinsonism with intellectual deficit due to DNAJC6 deficiency Juvenile parkinsonism with intellectual deficit due to DNAJC6 deficiency Juvenile parkinsonism with intellectual deficit due to DNAJC6 deficiency Parkinsonisme juvénile avec déficit intellectuel par déficit en DNAJC6 hrdo:pat_id_22071 352504 disease L-DOPA-unresponsive juvenile parkinsonism Parkinsonisme juvénile insensible à la L-DOPA Levodopa-unresponsive juvenile parkinsonism Levodopa-unresponsive juvenile parkinsonism Levodopa-unresponsive juvenile parkinsonism Levodopa-unresponsive juvenile parkinsonism Levodopa-unresponsive juvenile parkinsonism Parkinsonisme juvénile insensible à la lévodopa hrdo:pat_id_22075 352530 disease Autosomal recessive intellectual deficit due to TRAPPC9 deficiency Déficit intellectuel autosomique récessif par déficit en TRAPPC9 Déficit intellectuel - obésité - malformations cérébrales - dysmorphie faciale Intellectual deficit - obesity - brain malformations - facial dysmorphism Intellectual deficit - obesity - brain malformations - facial dysmorphism Intellectual deficit - obesity - brain malformations - facial dysmorphism Intellectual deficit - obesity - brain malformations - facial dysmorphism Intellectual deficit - obesity - brain malformations - facial dysmorphism hrdo:pat_id_22076 352540 disease Oncogenic hypophosphatemic osteomalacia Ostéomalacie hypophosphatémique oncogénique TIO Tumor-induced osteomalacia Oncogenic osteomalacia Oncogenic osteomalacia Oncogenic osteomalacia Oncogenic osteomalacia Oncogenic osteomalacia Ostéomalacie oncogénique hrdo:pat_id_22078 352563 disease COXPD16 COXPD16 Combined oxidative phosphorylation defect type 16 Déficit combiné de la phosphorylation oxydative type 16 Cardiomyopathie hypertrophique infantile par déficit en MRPL44 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency hrdo:pat_id_22081 352577 disease Bainbridge-Roppers syndrome Syndrome de Bainbridge-Roppers Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency Severe feeding difficulties - failure to thrive - microcephaly due to ASXL3 deficiency Troubles sévères de l'alimentation - retard staturo-pondéral - microcéphalie par déficit en ASXL3 hrdo:pat_id_22082 352582 disease FIME FIME Epilepsie myoclonique infantile familiale Familial infantile myoclonic epilepsy Familial infantile myoclonic epilepsy Familial infantile myoclonic epilepsy Familial infantile myoclonic epilepsy Familial infantile myoclonic epilepsy hrdo:pat_id_22083 352587 disease Epilepsie focale - déficit intellectuel - dysarthrie - ataxie Focal epilepsy - intellectual deficit - dysarthria - ataxia Epilepsie focale - déficit intellectuel - malformation cérebro-cérébelleuse Focal epilepsy - intellectual deficit - cerebro-cerebellar malformation Focal epilepsy - intellectual deficit - cerebro-cerebellar malformation Focal epilepsy - intellectual deficit - cerebro-cerebellar malformation Focal epilepsy - intellectual deficit - cerebro-cerebellar malformation Focal epilepsy - intellectual deficit - cerebro-cerebellar malformation hrdo:pat_id_22084 352596 disease PMED PMED Epilepsie myoclonique progressive avec dystonie Progressive myoclonic epilepsy with dystonia Progressive myoclonic epilepsy with dystonia Progressive myoclonic epilepsy with dystonia Progressive myoclonic epilepsy with dystonia Progressive myoclonic epilepsy with dystonia hrdo:pat_id_22086 352613 disease Infertilité masculine par mutation de Nanos1 Male infertility due to Nanos1 mutation Male infertility due to Nanos1 mutation Male infertility due to Nanos1 mutation Male infertility due to Nanos1 mutation Male infertility due to Nanos1 mutation hrdo:pat_id_22087 352629 disease Del(16)(q24.1) Del(16)(q24.1) Monosomie 16q24.1 Monosomy 16q24.1 16q24.1 microdeletion syndrome 16q24.1 microdeletion syndrome 16q24.1 microdeletion syndrome 16q24.1 microdeletion syndrome 16q24.1 microdeletion syndrome Syndrome de microdélétion 16q24.1 hrdo:pat_id_22088 352636 disease Acro-ostéolyse phalangienne Phalangeal acro-osteolysis Phalangeal microgeodic syndrome Phalangeal microgeodic syndrome Phalangeal microgeodic syndrome Phalangeal microgeodic syndrome Phalangeal microgeodic syndrome Syndrome microgéodique des phalanges hrdo:pat_id_22089 352641 disease Ataxie cérébelleuse autosomique récessive par déficit en GBA2 Autosomal recessive cerebellar ataxia due to GBA2 deficiency Ataxie cérébelleuse autosomique récessive avec spasticité tardive Autosomal recessive cerebellar ataxia with late-onset spasticity Autosomal recessive cerebellar ataxia with late-onset spasticity Autosomal recessive cerebellar ataxia with late-onset spasticity Autosomal recessive cerebellar ataxia with late-onset spasticity Autosomal recessive cerebellar ataxia with late-onset spasticity hrdo:pat_id_22091 352649 disease Brain dopamin-serotonin vesicular transport disease Brain dopamin-serotonin vesicular transport disease Brain dopamin-serotonin vesicular transport disease Brain dopamin-serotonin vesicular transport disease Brain dopamin-serotonin vesicular transport disease Déficit du transport vésiculaire cérébral de la dopamine et la sérotonine hrdo:pat_id_22093 352654 disease Early-onset progressive neurodegeneration - blindness - ataxia - spasticity Early-onset progressive neurodegeneration - blindness - ataxia - spasticity Early-onset progressive neurodegeneration - blindness - ataxia - spasticity Early-onset progressive neurodegeneration - blindness - ataxia - spasticity Early-onset progressive neurodegeneration - blindness - ataxia - spasticity Neurodégénérescence progressive de l'enfant - cécité - ataxie - spasticité hrdo:pat_id_22094 352657 disease HBID HBID Dyskératose intraépithéliale cornéenne héréditaire bénigne Hereditary benign corneal intraepithelial dyskeratosis Hereditary benign corneal intraepithelial dyskeratosis Hereditary benign corneal intraepithelial dyskeratosis Hereditary benign corneal intraepithelial dyskeratosis Hereditary benign corneal intraepithelial dyskeratosis hrdo:pat_id_22095 352662 disease Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis Dyskératose intraépithéliale cornéenne avec kératodermie palmoplantaire et dyskératose laryngée hrdo:pat_id_22096 352665 disease Del(9)(q21) Del(9)(q21) 9q21 microdeletion syndrome 9q21 microdeletion syndrome 9q21 microdeletion syndrome 9q21 microdeletion syndrome 9q21 microdeletion syndrome Syndrome de microdélétion 9q21 hrdo:pat_id_22097 352670 disease CMTDIF CMTDIF Autosomal dominant intermediate Charcot-Marie-Tooth disease type F Autosomal dominant intermediate Charcot-Marie-Tooth disease type F Autosomal dominant intermediate Charcot-Marie-Tooth disease type F Autosomal dominant intermediate Charcot-Marie-Tooth disease type F Autosomal dominant intermediate Charcot-Marie-Tooth disease type F Maladie de Charcot-Marie-Tooth intermédiaire autosomique dominante type F hrdo:pat_id_22098 352675 disease CMT6X CMT6X CMTX6 CMTX6 Maladie de Charcot-Marie-Tooth liée à l'X type 6 X-linked Charcot-Marie-Tooth disease type 6 X-linked Charcot-Marie-Tooth disease type 6 X-linked Charcot-Marie-Tooth disease type 6 X-linked Charcot-Marie-Tooth disease type 6 X-linked Charcot-Marie-Tooth disease type 6 hrdo:pat_id_22099 352682 disease Lissencephaly type 2 without muscular or ocular involvement Lissencéphalie type 2 sans atteinte musculaire ou oculaire Cobblestone lissencephaly without muscular or ocular involvement Cobblestone lissencephaly without muscular or ocular involvement Cobblestone lissencephaly without muscular or ocular involvement Cobblestone lissencephaly without muscular or ocular involvement Cobblestone lissencephaly without muscular or ocular involvement Lissencéphalie pavimenteuse sans atteinte musculaire ou oculaire hrdo:pat_id_221 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 148820 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=waardenburg%27s+syndrome%5Bmajr%5D+AND+%28%22type+3%22+OR+%22type+iii%22+OR+%22waardenburg-klein%22%5Btw%5D%29 E70.3 896 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Klein-Waardenburg syndrome Klein-Waardenburg, síndrome de Sindrome di Klein-Waardenburg Sindrome di Waardenburg con difetti degli arti Syndrome de Klein-Waardenburg Syndrome de Waardenburg avec anomalies des membres Síndrome de Klein-Waardenburg Síndrome de Klein-Waardenburg Síndrome de Waardenburg con anomalías de las extremidades Waardenburg syndrome with limb anomalies Sindrome di Waardenburg, tipo 3 Syndrome de Waardenburg type 3 Síndrome de Waardenburg tipo 3 Síndrome de Waardenburg tipo 3 Waardenburg syndrome type 3 Waardenburg-Syndrom Typ 3 hrdo:pat_id_2210 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q87.8 2369 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Complejo ''limb body wall'' LBWC syndrome LBWC, síndrome LBWC-Syndrom Limb body wall complex Sindrome LBWC Syndrome LBWC Síndrome LBWC Síndrome LBWC 'Complesso ''limb body wall'' ' Complejo miembros-pared abdominal Complexe "limb body wall" Gliedmaßen-Körperwand-Defekt Limb body wall complex Parede abdominal lateral, complexo hrdo:pat_id_22100 352687 group of phenomes Lissencephaly type 2 with muscular and ocular involvement Lissencéphalie type 2 avec atteinte musculaire et oculaire MDDGA MDDGA Alpha-dystroglycanopathie musculaire congénitale avec atteinte cérébrale et oculaire Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies hrdo:pat_id_22101 352694 group of phenomes Lissencephaly type 2A Lissencéphalie type 2A Cobblestone lissencephaly type A Cobblestone lissencephaly type A Cobblestone lissencephaly type A Cobblestone lissencephaly type A Cobblestone lissencephaly type A Lissencéphalie pavimenteuse type A hrdo:pat_id_22102 352699 group of phenomes Lissencephaly type 2C Lissencéphalie type 2C Cobblestone lissencephaly type C Cobblestone lissencephaly type C Cobblestone lissencephaly type C Cobblestone lissencephaly type C Cobblestone lissencephaly type C Lissencéphalie pavimenteuse type C hrdo:pat_id_22103 352704 disease Lissencephaly type 2B Lissencéphalie type 2B Cobblestone lissencephaly type B Cobblestone lissencephaly type B Cobblestone lissencephaly type B Cobblestone lissencephaly type B Cobblestone lissencephaly type B Lissencéphalie pavimenteuse type B hrdo:pat_id_22104 352709 etiological subtype CLN13 disease CLN13 disease CLN13 disease CLN13 disease CLN13 disease Maladie CLN13 hrdo:pat_id_22105 352712 disease Dysmorphie faciale - immunodéficience - livedo - petite taille FILS syndrome Syndrome FILS Dysmorphie faciale - déficit immunitaire - livedo - petite taille Facial dysmorphism - immunodeficiency - livedo - short stature Facial dysmorphism - immunodeficiency - livedo - short stature Facial dysmorphism - immunodeficiency - livedo - short stature Facial dysmorphism - immunodeficiency - livedo - short stature Facial dysmorphism - immunodeficiency - livedo - short stature hrdo:pat_id_22106 352718 disease Retinol dystrophy - iris coloboma - comedogenic acne syndrome Syndrome de dystrophie rétinienne - colobome de l'iris - acné comédogène Dystrophie rétinienne progressive par déficit de transport du rétinol Progressive retinal dystrophy due to retinol transport defect Progressive retinal dystrophy due to retinol transport defect Progressive retinal dystrophy due to retinol transport defect Progressive retinal dystrophy due to retinol transport defect Progressive retinal dystrophy due to retinol transport defect hrdo:pat_id_22107 352723 clinical subtype Atypical Chédiak-Higashi syndrome Syndrome de Chédiak-Higashi atypique Attenuated Chédiak-Higashi syndrome Attenuated Chédiak-Higashi syndrome Attenuated Chédiak-Higashi syndrome Attenuated Chédiak-Higashi syndrome Attenuated Chédiak-Higashi syndrome Syndrome de Chédiak-Higashi atténué hrdo:pat_id_22108 352728 group of phenomes Disorder of melanin metabolism Disorder of melanin metabolism Disorder of melanin metabolism Disorder of melanin metabolism Disorder of melanin metabolism Trouble du métabolisme de la mélanine hrdo:pat_id_22109 352731 disease Albinisme oculo-cutané type 1 Oculocutaneous albinism type 1 Oculocutaneous albinism type 1 Oculocutaneous albinism type 1 Oculocutaneous albinism type 1 Oculocutaneous albinism type 1 hrdo:pat_id_2211 245650 C537872 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Larsen+syndrome%5Bti%5D+AND+lethal%5BAll+Fields%5D%29+OR+Larsen-like%5BAll+Fields%5D Q74.8 2371 C1855535 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Larsen-ähnliches Syndrom, letale Form Lethal Larsen-like syndrome Sindrome Larsen-simile, forma letale Syndrome létal de Larsen-like Síndrome de Larsen-like tipo letal Síndrome de tipo Larsen, forma letal hrdo:pat_id_22110 352734 clinical subtype Albinisme oculo-cutané type MP Oculocutaneous albinism type MP Oculocutaneous albinism type MP Oculocutaneous albinism type MP Oculocutaneous albinism type MP Oculocutaneous albinism type MP hrdo:pat_id_22111 352737 clinical subtype Albinisme oculo-cutané type TS Oculocutaneous albinism type TS Oculocutaneous albinism type TS Oculocutaneous albinism type TS Oculocutaneous albinism type TS Oculocutaneous albinism type TS hrdo:pat_id_22112 352740 disease Syndrome de Waardenburg type 2 avec albinisme oculaire Waardenburg syndrome type 2 with ocular albinism Albinisme oculaire avec surdité neurosensorielle congénitale Ocular albinism with congenital sensorineural deafness Ocular albinism with congenital sensorineural deafness Ocular albinism with congenital sensorineural deafness Ocular albinism with congenital sensorineural deafness Ocular albinism with congenital sensorineural deafness hrdo:pat_id_22113 352745 disease Albinisme oculo-cutané type 5 Oculocutaneous albinism type 5 Oculocutaneous albinism type 5 Oculocutaneous albinism type 5 Oculocutaneous albinism type 5 Oculocutaneous albinism type 5 hrdo:pat_id_22117 352763 disease Buschke scleredema Scléroedème de Buschke Sclérème oedémateux de l'adulte Scleredema Scleredema Scleredema Scleredema Scleredema Scléroedème hrdo:pat_id_2213 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 308850 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Laryngeal+abductor+paralysis+mental+retardation 2375 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Plott syndrome Plott, síndrome de Plott-Syndrom Sindrome di Plott Syndrome de Plott Síndrome de Plott Abduktorenlähmung, laryngeale - geistige Retardierung Laryngeal abductor paralysis - intellectual deficit Paralisi della laringe - ritardo mentale Paralysie du larynx - déficit intellectuel Parálisis laríngea - déficit intelectual Parésia do abdutor laríngeo - atraso mental hrdo:pat_id_2215 135750 C535689 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Laurin+Sandrow%5Btw%5D+OR+(Mirror+(hand+OR+feet)+(nasal+defects+OR+nose%2Fab))+OR+(bilateral+reduplication+ulna+fibula) Q87.2 2378 C1851100 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Füße und Hände, spiegelbildliche - Nasenanomalien Main et pied en miroir - anomalie du nez Mani e piedi a "specchio" - anomalie del naso Mirror hands and feets - nasal defects Mãos e pés em espelho - anomalias do nariz Sandrow syndrome Sandrow-Syndrom Syndrome de Sandrow Laurin-Sandrow syndrome Laurin-Sandrow-Syndrom Sindrome di Laurin-Sandrow Syndrome de Laurin-Sandrow Síndrome de Laurin-Sandrow Síndrome de Laurin-Sandrow hrdo:pat_id_2216 311510 2379 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Laxova-Opitz syndrome Laxova-Opitz, síndrome de Laxova-Opitz-Syndrom Parkinsonismo a esordio precoce - ritardo mentale Parkinsonismo precoce - atraso mental Sindrome di Laxova-Opitz Sindrome di Waisman Syndrome de Laxova-Opitz Syndrome de Waisman Síndrome de Laxova-Opitz Síndrome de Waisman Síndrome de Waisman Waisman syndrome Waisman, síndrome de Waisman-Syndrom Early-onset parkinsonism - intellectual deficit Parkinsonisme précoce - déficit intellectuel Parkinsonismo a esordio precoce - deficit cognitivo Parkinsonismo precoce - défice intelectual Parkinsonismo precoz - déficit intelectual Parkinsonismus, frühbeginnender - Intelligenzminderung hrdo:pat_id_2217 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 2386 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Leucoencefalopatia - cheratosi palmoplantare Leucoencefalopatia - queratodermia palmo-plantar Leucoencefalopatía - queratodermia palmoplantar Leukoencephalopathy-palmoplantar keratoderma syndrome Leukoenzephalopathie - Palmoplantarkeratose Syndrome de leucoencéphalopathie-kératose palmoplantaire hrdo:pat_id_2218 151600 C535889 neant Q84.4 2387 C0544855 disease Gorlin-Bushkell-Jensen, síndrome de Sindrome di Gorlin-Bushkell-Jensen Síndrome de Gorlin-Bushkell-Jensen Leuconichia totale Leuconiquia total Leuconiquia total - quistos sebáceos múltiplos - litíase renal Leuconychie totale Leukonychia totalis Leukonychia totalis hrdo:pat_id_2219 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 200150 2388 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown ChAc ChAc ChAc ChAc ChAc Chorea-Akanthozytose Chorea-acanthocytosis Choreoakanthozytose Corea-acantocitosi Corea-acantocitosis Coreoacantocitose Levine-Critchley syndrome Levine-Critchley, síndrome de Levine-Critchley-Syndrom Sindrome di Levine-Critchley Syndrome de Levine-Critchley Síndrome de Levine-Critchley Síndrome de Levine-Critchley Choreoacanthocytosis Choreoakanthozytose Chorée-acanthocytose Coreoacantocitosi Coreoacantocitosis Neuroacantocitose hrdo:pat_id_2220 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 2389 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cleft lip/palate - ectrodactyly Fenda lábio-palatina - ectrodactilia Fente labiopalatine - ectrodactylie Fisura labiopalatina - ectrodactilia Labiopalatoschisi - ectrodattilia Lippen-Kiefer-Gaumenspalte - Ektrodaktylie Lewis-Pashayan syndrome Lewis-Pashayan-Syndrom Sindrome di Lewis-Pashayan Syndrome de Lewis-Pashayan Síndrome de Lewis-Pashayan Síndrome de Lewis-Pashayan hrdo:pat_id_2221 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 246550 2390 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Lichstenstein syndrome Lichstenstein-Syndrom Sindrome di Lichtenstein Syndrome de Lichtenstein Síndrome de Lichstenstein Síndrome de Lichtenstein hrdo:pat_id_2222 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 122580 C536448 2391 C1852523 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Accorciamento congenito del legamento costocoracoide Acortamiento congénito de ligamento costocoracoide Congenitally short costocoracoid ligament Kostokorakoides Ligament, verkürztes, kongenitales Ligamento costocoracóide curto congénito Raccourcissement congénital du ligament costocoracoïde hrdo:pat_id_2225 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 613001 C535736 neant E88.2 2396 238905009 C0406612 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Haberland syndrome Haberland-Syndrom Sindrome di Haberland Syndrome de Haberland Síndrome de Haberland Encephalocraniocutaneous lipomatosis Lipomatose encéfalo-cranio-cutânea Lipomatose encéphalo-cranio-cutanée Lipomatose, enzephalo-kranio-kutane Lipomatosi encefalo-cranio-cutanea Lipomatosis encefalocraneocutánea hrdo:pat_id_2226 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 167730 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Nasopalpebral+lipoma-coloboma+syndrome Q10.3 2399 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Lipom, nasopalpebrales - Kolobom - Telekanthus Lipoma nasopalpebral - coloboma - telecanto Lipoma nasopalpebrale - coloboma - telecanto Lipomes naso-palpébraux - colobome Nasopalpebral lipoma - coloboma - telecanthus Síndrome de lipoma naso-palpebral - coloboma hrdo:pat_id_2227 252320 C536988 neant 2400 C1854961 disease Lisker-Garcia-Ramos syndrome Lisker-Garcia-Ramos, síndrome de Lisker-Garcia-Ramos-Syndrom Sindrome di Lisker-Garcia-Ramos Syndrome de Lisker-Garcia-Ramos Síndrome de Lisker-Garcia-Ramos Síndrome de Lisker-García-Ramos Neuropathie périphérique - dysautonomie Neuropathie, periphere motorische - Dysautonomie Neuropatia motora periférica - disautonomia Neuropatia motoria periferica - disautonomia Neuropatía motora periférica - disautonomía Peripheral motor neuropathy - dysautonomia hrdo:pat_id_2232 Variabel Variabile Variable Variable Variable Variable Variável 128980 2405 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Escher-Hirt syndrome Escher-Hirt, síndrome de Escher-Hirt-Syndrom Escher-Hort-Syndrom Sindrome di Escher-Hirt Syndrome de Escher-Hort Síndrome de Escher-Hirt Síndrome de Escher-Hirt Lobe de l'oreille épais - surdité de conduction Lobi dell'orecchio ispessiti - sordità conduttiva Lóbulos auriculares espessos - surdez de condução Lóbulos gruesos de las orejas - sordera conductiva Ohrläppchenverdickung - Schallleitungsschwerhörigkeit Thickened earlobes - conductive deafness hrdo:pat_id_2233 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 245660 neant Q81.8 2407 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Granulation, okuläre und laryngeale, bei indischen Kindern Granulations laryngées et oculaires chez les enfants indiens Granulazioni laringee e oculari nei bambini Indiani Granulação oculo-laringea em crianças indianas LOGIC syndrome Laringo-onico-cutâneo, síndrome Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome Laryngo-onycho-cutaneous syndrome Laryngo-onycho-kutanes Syndrom Shabbir syndrome Sindrome laringo-onico-cutanea Syndrome LOGIC Syndrome de Shabbir Syndrome laryngo-onycho-cutané Síndrome LOGIC Síndrome de Shabbir Síndrome de tejido de granulación laríngeo y ocular en niños del subcontinente indio Síndrome laringo-onico-cutáneo Síndrome laringo-onico-cutâneo LOC syndrome LOGIC-Syndrom Sindrome LOGIC Syndrome LOC Síndrome LOC Síndrome LOGIC hrdo:pat_id_2234 107100 neant Q87.8 2408 malformation syndrome Deafness - nephritis - ano-rectal malformation Sordità - nefrite - malformazione ano-rettale Surdez - nefrite - malformação ano-rectal Surdez - nefrite - malformação ano-retal Surdité - néphrite - malformation anorectale Taubheit - Nephritis - ano-rektale Fehlbildung Lowe-Kohn-Cohen syndrome Lowe-Kohn-Cohen-Syndrom Sindrome di Lowe-Kohn-Cohen Syndrome de Lowe-Kohn-Cohen Síndrome de Lowe Kohn Cohen Síndrome de Lowe-Kohn-Cohen hrdo:pat_id_2235 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 600252 C537037 neant Q87.8 2409 C0796020 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Lowry-MacLean syndrome Lowry-Maclean-Syndrom Sindrome di Lowry-Maclean Syndrome de Lowry-MacLean Síndrome de Lowry-MacLean Síndrome de Lowry-Maclean hrdo:pat_id_2236 219721 2575 malformation syndrome Lubani-Al Saleh-Teebi syndrome Lubani-Al Saleh-Teebi, síndrome de Lubani-al Saleh-Teebi-Syndrom Sindrome di Lubani-Al Saleh-Teebi Syndrome de Lubani-Al Saleh-Teebi Síndrome de Lubani-Al Saleh-Teebi Síndrome de Lubani-Al Saleh-Teebi Cystic fibrosis - gastritis - megaloblastic anemia Fibrose quística - gastrite - anemia megaloblástica Mucoviscidose - gastrite - anémie mégaloblastique Mucoviscidosi - gastrite - anemia megaloblastica Mucoviscidosis - gastritis - anemia megaloblástica Zystische Fibrose mit Gastritris und Megaloblastenanämie hrdo:pat_id_2237 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 240950 2410 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hypogonadismus - Katarakt Lubinsky syndrome Lubinsky, síndrome de Sindrome di Lubinsky Syndrome de Lubinsky Síndrome de Lubinsky Síndrome de Lubinsky Hipogonadismo hipergonadotrópico - cataratas Hypergonadotroper Hypogonadismus-Katarakt-Syndrom Hypergonadotropic hypogonadism - cataract syndrome Hypogonadisme hypergonadotrope - cataracte Sindrome ipogonadismo ipergonadotropo-cataratta Síndrome de hipogonadismo - catarata hrdo:pat_id_2239 601450 neant Q87.2 2412 malformation syndrome Collins Pope, síndrome de Collins-Pope syndrome Collins-Pope, síndrome de Collins-Pope-Syndrom Sindrome di Collins-Pope Syndrome de Collins-Pope Síndrome de Collins-Pope Dislocation of the hip - dysmorphism Hüftdislokation - Dysmorphien Lussazione dell'anca - dismorfismi Luxación de cadera dismorfia Luxation de la hanche - dysmorphie Luxação da anca - dismorfias hrdo:pat_id_2243 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Finegold+DN%5B1au%5D+foxc2)+OR+(Falls+HF+Kertesz+ED)+OR+(Lymphoedema+(limb+OR+extremities)+(ptosis+OR+Blepharoptosis)) 2419 malformation syndrome Linfedema - ptose Linfedema - ptosi Linfedema ptosis Lymphedema - ptosis Lymphoedème - ptosis Lymphödem - Ptosis hrdo:pat_id_2249 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 600302 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Macrocephaly%5Btw%5D+%28facial%5Bti%5D+OR+face%5Bti%5D+OR+facies%5Bti%5D%29%29+mental+retardation%5Bti%5D+OR+Fryns+macrocephaly Q87.0 2429 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Fryns macrocephaly Macrocefalia de Fryns Macrocefalia de Fryns Macrocefalia di Fryns Macrocéphalie de Fryns Makrozephalie Typ Fryns Macrocefalia - atraso mental - dismorfia facial Macrocefalia - paraplegia spastica - dismorfismi Macrocefalia - paraplejía espástica - dismorfismo Macrocephaly - spastic paraplegia - dysmorphism Macrocéphalie - paraplégie spastique - dysmorphie Makrozephalie - spastische Paraplegie - Dysmorphien hrdo:pat_id_225 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 214100 214110 614859 614862 614866 614870 614872 614876 614882 614883 614886 614887 D015211 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=zellweger+syndrome%5Bmajr%5D Q87.8 912 88469006 C0043459 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cerebro-hepato-renal, síndrome Cerebrohepatorenal syndrome Sindrome cerebro-epato-renale Syndrome cérébro-hépato-rénal Síndrome cerebro-hepato-renal ZS Zerebro-hepato-renales Syndrom Sindrome di Zellweger Syndrome de Zellweger Síndrome de Zellweger Síndrome de Zellweger Zellweger syndrome Zellweger-Syndrom hrdo:pat_id_2251 248110 neant Q87.3 2432 malformation syndrome Sindrome di Teebi-Al Saleh-Hassoon Syndrome de Teebi-Al saleh-Hassoon Síndrome de Teebi-Al Saleh-Hassoon Teebi-Al saleh-Hassoon syndrome Teebi-al Saleh-Hassoon-Syndrom Macrosomia - microftalmia - fisura palatina Macrosomia - microftalmia - palatoschisi Macrosomia - microphthalmia - cleft palate Macrosomie - microphtalmie - fente palatine Macrossomia - microftalmia - fenda do palato Makrosomie - Mikrophthalmie - Gaumenspalte hrdo:pat_id_2253 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 153650 C535507 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Epstein+syndrome%5Btw%5D D69.4 1019 234485006 C0398641 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Alport com macrotrombocitopenia, síndrome de Alport syndrome with macrothrombocytopenia Alport-Syndrom mit Makrothrombozytopenie Sindrome di Alport con macrotrombocitopenia Syndrome d'Alport avec plaquettes géantes Síndrome de Alport com macrotrombocitopenia Síndrome de Alport con plaquetas gigantes Epstein syndrome Epstein-Syndrom Sindrome di Epstein Syndrome d'Epstein Síndrome de Epstein Síndrome de Epstein hrdo:pat_id_2255 154000 2435 disease Sindrome di Westerhof-Beemer-Cormane Syndrome de Westerhof-Beemer-Cormane Síndrome de Westerhof-Beemer-Cormane Síndrome de Westerhof-Beemer-Cormane Westerhof-Beemer-Cormane syndrome Westerhof-Beemer-Cormane, síndrome de Westerhof-Beemer-Cormane-Syndrom Hypomelanotic and hypermelanotic cutaneous macules - retarded growth - intellectual deficiency Maculae, hypopigmentierte und hyperpigmentierte, hereditäre kongenitale Maculas congénitas hereditárias hipopigmentadas e hiperpigmentadas Macule ipo- e iperpigmentate ereditarie congenite Macules cutanées hypo- et hypermélaniques - retard de croissance - déficit intellectuel Máculas hiperpigmentadas e hipopigmentadas, congénitas hereditarias hrdo:pat_id_2257 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 166000 D004687 10014642 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Enchondromatosis+multiple+OR+Ollier%27s+disease%5Btw%5D+OR+Maffucci%27s+syndrome%5Btw%5D Q78.4 296 268274005 C0014084 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Doença de Ollier Enfermedad de Ollier Maffucci, síndrome de Maladie d'Ollier Malattia di Maffucci Malattia di Ollier Ollier disease Ollier, doença de Ollier-Krankheit Síndrome de Maffucci Enchondromatose Enchondromatose Enchondromatosis Encondromatose Encondromatosi Encondromatosis hrdo:pat_id_2258 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 183802 neant Q87.8 2437 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Czeizel-Losonci syndrome Czeizel-Losonci, síndrome de Czeizel-Losonci-Syndrom Sindrome di Czeizel-Losonci Syndrome de Czeizel-Losonci Síndrome de Czeizel-Losonci Síndrome de Czeizel-Losonci Ectrodactilia das mãos - anomalias urinárias - espinha bífida Main fendue - uropathie - spina bifida - diaphragme anormal Mano hendida - anomalías urinarias - espina bífida - anomalía de diafragma Schisi della mano - uropatia - spina bifida - anomalie del diaframma Spalthand - Harnwegsanomalien - Spina bifida Split hand - urinary anomalies - spina bifida hrdo:pat_id_2259 140000 Q51.2 2438 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome HFGS HFGS HFGS HFGS HFGS Hand-Fuss-Uterus-Syndrom Hand-foot-uterus syndrome Sindrome mano-piede-utero Síndrome útero-mano-pie Hand-Fuß-Genital-Syndrom Hand-foot-genital syndrome Sindrome mano-piede-genitali Syndrome main-pied-utérus Síndrome mano-pie-genital Síndrome mão-pé-útero hrdo:pat_id_2260 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 183700 2439 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deformidad con pies hendidos - disostosis mandibulofacial Patterson-Stevenson syndrome Patterson-Stevenson, síndrome de Patterson-Stevenson-Syndrom Pieds fendus - dysostose mandibulo-faciale Schisi dei piedi - disostosi mandibolofacciale Sindrome di Patterson-Stevenson Split foot deformity - mandibulofacial dysostosis Syndrome de Patterson-Stevenson Síndrome de Patterson-Stevenson Síndrome de Patterson-Stevenson Ectrodactilia das mãos - disostose mandibulo-facial Patterson-Stevenson-Fontaine syndrome Sindrome di Patterson-Stevenson-Fontaine Spalthand mit mandibulofazialer Dysostose Syndrome Patterson-Stevenson-Fontaine Síndrome de Patterson-Stevenson-Fontaine hrdo:pat_id_2261 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 183600 225300 246560 313350 605289 606708 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Split%5Bti%5D+hand%5Bti%5D+foot%5Bti%5D+OR+%28Split+hand%5Btw%5D+foot+malformation%5Btw%5D%29 Q71.6 Q72.7 2440 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 'Deformità a ''chela di aragosta''' 'Mani e piedi deformi a ''chela di aragosta''' Deformidad en pinza de langosta Ectrodactilia Ectrodactylie Ectrodactyly Ectrodattilia Ektrodaktylie Lobster-claw deformity Lobster-claw-Hand Malformación de manos y pies hendidos Mani deformi a "chela di aragosta" SHFM SHFM SHFM SHFM SHFM Spalthand - Spaltfuß Split hand foot malformation Ectrodactilia das mãos e pés Mains et pieds fendus Malformación de mano hendida - pie hendido Malformazione da schisi delle mani e dei piedi Spalthand - Spaltfuß Split hand-split foot malformation hrdo:pat_id_2266 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 600195 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=venous+malformation%5Bti%5D+OR+venous+malformations%5Bti%5D+OR+venous+abnormality%5Bti%5D+OR+venous+abnormalities%5Bti%5D Q27.8 2451 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cutaneous and mucosal venous malformation MVCM Malformation veineuse cutanée et muqueuse Malformazione venosa cutanea e delle mucose Markel-Vikkula-Mulliken, síndrome de Markel-Vikkula-Mulliken-Syndrom Síndrome de Markel-Vikkula-Mulliken VMCM VMCM VMCM Venöse Malformationen, kutane und muköse Fehlbildung, mukokutane venöse Malformaciones venosas mucocutáneas Malformation veineuse cutanéomuqueuse multiple Malformazioni venose mucocutanee Malformações venosas familiares Mucocutaneous venous malformations hrdo:pat_id_2267 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 248340 2453 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anomalias congénitas múltiplas - atraso mental - atraso do crescimento - fenda lábio-palatina Malpuech facial clefting syndrome Malpuech-Gesichtsspalten-Syndrom Multiple kongenitale Anomalien - geistige Retardierung - Wachstumsstörungen - Lippen-Gaumenspalte Sindrome della schisi facciale di Malpuech Síndrome de la hendidura facial de Malpuech Malpuech syndrome Malpuech-Syndrom Sindrome di Malpuech Syndrome de Malpuech Síndrome de Malpuech Síndrome de Malpuech hrdo:pat_id_2268 193250 neant Q43.3 2454 malformation syndrome Sindrome di Stalker-Chitayat Stalker-Chitayat syndrome Stalker-Chitayat, síndrome de Stalker-Chitayat-Syndrom Syndrome de Stalker-Chitayat Síndrome de Stalker-Chitayat Síndrome de Stalker-Chitayat Familial intestinal malrotation - facial anomalies Intestinale Malrotation - faziale Dysmorphien, familiäre Form Malrotación intestinal familiar - dismorfia facial Malrotação intestinal - dismorfia facial tipo familiar Sindrome familiare da malrotazione intestinale - dismorfismi Syndrome familial de malrotation intestinale-dysmorphie hrdo:pat_id_2270 163700 Q83.3 2456 morphological anomaly Isolated polythelia Politelia aislada Politelia familiar Polythelie, isolierte Polythélie isolée Capezzoli soprannumerari familiari Familial supernumerary nipples Mamelon surnuméraire héréditaire Mamillen, überzählige, familiäre Form Mamilos supranumerários familiar Pezones supernumerarios familiares hrdo:pat_id_2271 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Mandibuloacral+dysplasia Q87.5 2457 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 MAD MAD MAD MAD MAD Displasia mandiboloacrale Displasia mandíbulo-acral Displasia mandíbuloacra Dysplasie mandibulo-acrale Dysplasie, mandibulo-akrale Mandibuloacral dysplasia hrdo:pat_id_2273 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 248700 C535910 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Marden%5Bau%5D+Walker%5Bau%5D+OR+Marden+Walker Q87.0 2461 C0796033 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Marden-Walker syndrome Marden-Walker-Syndrom Sindrome di Marden-Walker Syndrome de Marden-Walker Síndrome de Marden-Walker Síndrome de Marden-Walker hrdo:pat_id_2275 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 182212 C537328 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Shprintzen+Goldberg%5Btw%5D Q87.8 2462 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Craniossinostose - hábito marfanóide, síndrome Habitus marfanoïde - craniosynostose Marfan-ähnliches Kraniosynostose-Syndrom Marfanoid craniosynostosis syndrome SGS SGS SGS SGS Sindrome da craniosinostosi Marfanoide Síndrome craniossinostose - hábito marfanóide Síndrome marfanoide con craneosinostosis Shprintzen-Goldberg syndrome Shprintzen-Goldberg-Syndrom Sindrome di Shprintzen-Goldberg Syndrome de Shprintzen-Goldberg Síndrome de Shprintzen-Goldberg Síndrome de Shprintzen-Goldberg hrdo:pat_id_2276 248770 neant Q87.8 2463 malformation syndrome Habitus marfanoide-ritardo mentale, autosomico recessivo Hábito marfanoide - déficit intelectual, autosómico recesivo Marfan-ähnliches Syndrom - geistige Retardierung, autosomal-rezessiv Marfanoid habitus - intellectual deficit, autosomal recessive Syndrome marfanoïde-déficit intellectuel, autosomique récessif Síndrome atraso mental - hábito marfanóide tipo autossómico hrdo:pat_id_2277 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 248800 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Marinesco+Sjogren%5Bti%5D+OR+Marinesco+Sjogren+synd*%5Btw%5D+%28spinocerebellar+degenerations%5Bmh%5D+OR+ataxia%5Btw%5D%29 G11.1 559 80734006 C0024814 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Marinesco-Sjögren syndrome Marinesco-Sjögren-Syndrom Sindrome di Marinesco-Sjögren Syndrome de Marinesco-Sjögren Síndrome de Marinesco-Sjogren Síndrome de Marinesco-Sjogren hrdo:pat_id_2278 223330 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=marfanoid+de+Silva 2464 malformation syndrome Marfanoid syndrome, De Silva type Marfanoides-Syndrom vom Typ de Silva Sindrome marfanoide, tipo de Silva Syndrome marfanoïde type de Silva Síndrome hábito marfanóide tipo de Silva Síndrome marfanoide tipo De Silva hrdo:pat_id_2279 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 602535 C536026 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Marshall%5Btw%5D+Smith%5Btw%5D+syndrome Q87.3 561 73284007 C0265211 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Accelerated skeletal maturation - peculiar facies - failure to thrive Beschleunigte Knochenalterung - Gesichtsanomalien - Gedeihstörungen Maturation osseuse accélérée - anomalies faciales - retard staturo-pondéral Maturazione ossea accelerata - facies peculiare - ritardo di crescita Maturação óssea acelerada - face peculiar - má evolução estaturoponderal Marshall-Smith syndrome Marshall-Smith-Syndrom Sindrome di Marshall-Smith Syndrome de Marshall-Smith Síndrome de Marshall-Smith Síndrome de Marshall-Smith hrdo:pat_id_2283 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601186 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Matthew%5Btw%5D+wood%5Btw%5D+syndrome+OR+%28%28anophthalm*%5Bti%5D+OR+microphthalm*%5Bti%5D%29+pulmonary+%28hypoplasia%5Btw%5D+OR+agenesis%5Btw%5D%29%29 Q11.2 2470 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anoftalmia - hipoplasia pulmonar Anoftalmia - hipoplasia pulmonar Anoftalmia - ipoplasia polmonare Anophtalmie - hypoplasie pulmonaire Anophthalmia - pulmonary hypoplasia Anophthalmie - pulmonale Hypoplasie MCOPS9 MCOPS9 MCOPS9 MCOPS9 Microftalmia sindromica, tipo 9 Microftalmia sindrómica tipo 9 Microphtalmie syndromique type 9 Mikrophthalmie, syndromale, Typ 9 Syndromic microphthalmia type 9 Matthew-Wood syndrome Matthew-Wood-Syndrom Sindrome di Matthew-Wood Syndrome de Matthew-Wood Síndrome de Matthew-Wood Síndrome de Matthew-Wood hrdo:pat_id_2284 248950 C538158 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=McDonough+syndrome%5Btw%5D Q87.8 2471 C0796038 malformation syndrome McDonough syndrome McDonough-Syndrom Sindrome di McDonough Syndrome de McDonough Síndrome de McDonough Síndrome de Mcdonough hrdo:pat_id_2286 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 236700 C538159 10052312 neant Q87.8 2473 C0948368 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hydrometrocolpos - postaxial polydactyly Hydrometrokolpos - Polydaktylie Hydrométrocolpos - polydactylie Idrometrocolpo - polidattilia Kaufman-Mckusick syndrome Kaufman-Mckusick, síndrome de Síndrome de Kaufman-Mckusick McKusick-Kaufman syndrome McKusick-Kaufman-Syndrom Sindrome di McKusick-Kaufman Syndrome de McKusick-Kaufman Síndrome de McKusick Kaufman Síndrome de Mckusick-Kaufman hrdo:pat_id_2287 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=CHOROIDO-RETINAL+Coloboma+mental+retardation 2474 malformation syndrome Atraso mental - coloboma - magreza Déficit intelectual - hábito leptosómico - coloboma Déficit intellectuel - minceur - colobome Geistige Retardierung - Kolobom Intellectual deficit - coloboma - slimness Ritardo mentale - coloboma sottile McLain-Dekaban syndrome Mclain-Debakian-Syndrom Sindrome di McLain-Debakian Syndrome de McLain-Dekaban Síndrome de McLain-Debakian Síndrome de Mclain-Debakian hrdo:pat_id_2288 277740 C536700 neant Q87.8 2475 C1848463 malformation syndrome Ciocche di capelli bianchi - malformazioni Madeixa branca com malformações Mechón blanco con anomalías múltiples Mèches blanches - anomalies multiples Weiße Stirnlocke mit multiplen Fehlbildungen White forelock with malformations hrdo:pat_id_2289 2476 malformation syndrome Disrafia - fisura labiopalatina - anomalía de miembros Disrafia - labiopalatoschisi - anomalie degli arti Disrafismo - fenda lábio-palatina - defeitos de redução dos membros Dysraphie - Lippen-Kiefer-Gaumen-Spalte - Anomalien der Extremitäten Dysraphie - fente labiopalatine - anomalie des membres Dysraphism - cleft lip/palate - limb reduction defects Medeira-Dennis-Donnai syndrome Medeira-Dennis-Donnai-Syndrom Sindrome di Medeira-Dennis-Donnai Syndrome de Medeira-Dennis-Donnai Síndrome de Medeira-Dennis-Donnai Síndrome de Medeira-Dennis-Donnai hrdo:pat_id_2290 155350 248000 neant Q04.5 2477 malformation syndrome Macrencefalia Macrencephaly Macrocefalia dominante Macroencefalia Macroencéphalie Makrenzephalie Makroenzephalie, familiäre Megalencefalia Megalencefalia Megalencefalia familiar Megalencephaly Megalenzephalie Mégalencéphalie hrdo:pat_id_2291 249310 Q87.8 2479 malformation syndrome Neuhauser, síndrome de Síndrome de Neuhauser Megalocornea - ritardo mentale Megalocornea-intellectual deficit syndrome Megalokornea - geistige Retardierung Mégalocornée - déficit intellectuel Síndrome megalocórnea - atraso mental Síndrome megalocórnea - déficit intelectual hrdo:pat_id_2294 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 249400 C537387 neant D22 2481 C0544862 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Melanose, neurokutane Melanosi neurocutanea Melanosis neurocutánea Mélanose neurocutanée NCM NCM NCM NCM NCM Neurocutaneous melanosis Melanocitosi neurocutanea Melanocitosis neurocutánea Melanose neuro-cutânea Melanozytose, neurokutane Mélanocytose neurocutanée Neurocutaneous melanocytosis hrdo:pat_id_2295 C537238 neant Q76.4 2482 C2931453 malformation syndrome Melhem-Fahl syndrome Melhem-Fahl-Syndrom Sindrome di Melhem-Fahl Syndrome de Melhem-Fahl Síndrome de Melhem-Fahl Síndrome de Melhem-Fahl hrdo:pat_id_2296 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 155900 D008556 10027166 G51.2 2483 215617000 37770007 C0025235 malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Melkersson-Rosenthal syndrome Melkersson-Rosenthal-Syndrom Sindrome di Melkersson-Rosenthal Syndrome de Melkersson-Rosenthal Síndrome de Melkersson-Rosenthal Síndrome de Melkersson-Rosenthal hrdo:pat_id_2297 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 309350 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Melnick%5Bti%5D+Needles%5Btw%5D Q77.8 2484 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Melnick-Needles syndrome Sindrome di Melnick-Needles Syndrome de Melnick-Needles Osteodisplasia de Melnick-Needles Osteodisplasia, tipo Melnick-Needles Osteodisplasia, tipo Melnick-Needles Osteodysplastie Typ Melnick-Needles Osteodysplasty, Melnick-Needles type Ostéodysplasie type Melnick-Needles hrdo:pat_id_2298 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 155950 D008557 10050284 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Melorheostosis%5Bti%5D+OR+Melorheostosis%5Bmh%5D Q78.2 2485 44697002 C0025239 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Meloreostosi Melorheostose Melorheostosis Melorreostose Melorreostosis Mélorhéostose hrdo:pat_id_2299 neant D18.0 2486 malformation syndrome Anomalie trasversali degli arti - emangioma Anomalies transverses des membres - hémangiome Anomalía de miembros transversa hemangioma Defeitos transversais dos membros - hemangioma Extremitätenfehlbildungen, transversale - Hämangiom Transverse limb deficiency - hemangioma hrdo:pat_id_23 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D008178 10056509 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22lupus+erythematosus%2C+cutaneous%22%5BMeSH+Terms%5D+OR+%28Cutaneous+lupus+erythematosus%5BText+Word%5D+NOT+medline%5BSB%5D%29 L93 535 7119001 C0024137 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Cutaneous lupus erythematosus Lupus eritematoso cutaneo Lupus eritematoso cutáneo Lupus erythematodes, kutaner Lupus érythémateux cutané Lúpus eritematoso cutâneo hrdo:pat_id_230 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 194072 612469 C538295 D017624 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=WAGR+syndrome%5Bmh%5D+OR+WAGR+syndrome%5Bti%5D+OR+%28wilms%5Btw%5D+AND+aniridia%5Btw%5D+AND+mental+retardation%5Btw%5D%29 Q87.8 893 C0206115 C2931803 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Aniridia - Tumor de Wilms Deletion 11p13 Delezione 11p13 Délétion 11p13 Monosomia 11p13 Monosomie 11p13 Monosomy 11p13 Tumeur de Wilms - aniridie - anomalies génito-urinaires - déficit intellectuel Tumore di Wilms - aniridia - anomalie genitourinarie - ritardo mentale Wilms tumor - aniridia - genitourinary anomalies - intellectual deficit Wilms-Tumor - Aniridie - urogenitale Anomalien - geistige Retardierung Sindrome WAGR Syndrome WAGR Síndrome WAGR Síndrome WAGR WAGR syndrome WAGR-Syndrom hrdo:pat_id_2300 2487 malformation syndrome Fried-Golberg-Mundel-Syndrom Fried-Goldberg-Mundel syndrome Fried-Goldberg-Mundel, síndrome de Sindrome di Fried-Golberg-Mundel Syndrome de Fried-Golberg-Mundel Síndrome de Fried-Golberg-Mundel Síndrome de Fried-Goldberg-Mundel Anomalias dos membros inferiores - hipospadias Anomalie degli arti inferiori - ipospadia Anomalie du membre inférieur - hypospadias Anomalien der unteren Extremitäten - Hypospadie Anomalía de miembro inferior - hipospadias Lower limb deficiency - hypospadias hrdo:pat_id_2302 274205 neant Q87.8 2489 malformation syndrome Anomalie degli arti superiori - deficit oculoauricolare Anomalies du membre supérieur, de l'oeil et de l'oreille Defecto en las extremidades superiores - anomalías en ojos y orejas Defeitos nos membros superiores - anomalias nos olhos e ouvidos Fehlbildungen der oberen Gliedmaßen - Augen- und Ohranomalien Upper limb defect - eye and ear abnormalities hrdo:pat_id_2304 146160 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Mullerian+ducts%2Fab+OR+mullerian%5Bti%5D)+(limb%2Fab+OR+Limb+Deformities,+Congenital) Q87.8 2491 malformation syndrome Anomalie del dotto Mülleriano - anomalie degli arti Anomalies des membres - anomalies mullériennes Anomalías en los conductos mullerianos - anomalías en las extremidades Hipomelia - anomalias dos canais mullerianos Mullerian duct anomalies - limb anomalies Müller-Gang-Anomalien - Extremitätenanomalien hrdo:pat_id_2305 246570 neant Q87.2 2492 malformation syndrome Hecht-Scott syndrome Hecht-Scott, síndrome de Hecht-Scott-Syndrom Sindrome di Hecht-Scott Syndrome de Hecht-Scott Síndrome de Hecht-Scott Síndrome de Hecht-Scott Anomalie degli arti - cardiopatia Anomalies des membres - cardiopathie Anomalía de miembros - cardiopatía Defeitos transversais dos membros - cardiopatia Extremitätenfehlbildungen, transversale - Kardiopathie Limb transversal defect - cardiac anomaly hrdo:pat_id_2307 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 300511 300604 311360 608996 611548 612310 612964 D016649 10036602 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Premature+ovarian+failure%5Bti%5D+OR+ovarian+failure%2C+premature%5Bmajr%5D E28.3 619 237788002 65846009 C0085215 C0271606 Esporádica Esporádico Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X Sporadic Sporadic Sporadica Sporadique Sporadisch X-chromosomal-rezessiv X-linked recessive X-linked recessive disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Fallo ovárico hipergonadotrópico Fallo ovárico prematuro Hypergonadotropic ovarian failure Insufficienza ovarica ipergonadotropica Insufficienza ovarica prematura Insuffisance ovarienne hypergonadotrope Insuffisance ovarienne précoce Insuficiencia ovárica prematura Insuficiencia ovárica primaria Menopausa prematura Menopausia prematura Ménopause précoce Ovarialinsuffizienz, hypergonadotrope Ovarialinsuffizienz, vorzeitige POF POF POF POF Premature menopause Premature ovarian failure Premature ovarian insufficiency Primary ovarian insufficiency Vorzeitige Menopause Fallo ovárico primario Insufficienza ovarica primitiva Insuffisance ovarienne primaire Menopausa precoce familiar Ovarialinsuffizienz, primäre Primary ovarian failure hrdo:pat_id_2308 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 600383 neant Q93.5 2496 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 8q13 microdeletion syndrome Del(8)q(13) Del(8)q(13) Del(8)q(13) Displasia mesomélica con sinostosis acral, tipo Verloes-David-Pfeiffer Dysplasie mésomélique avec synostoses acrales type Verloes-David-Pfeiffer Mesomelia - sinostosi Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type Mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type Mesomelie - Synostosen Monosomia 8q13 Monosomie 8q13 Monosomie 8q13 Monosomy 8q13 Monosomía 8q13 Sindrome di Verloes-David Syndrome de Verloes-David Syndrome de microdélétion 8q13 Syndrome de mésomélie-synostoses type Verloes-David-Pfeiffer Síndrome de Verloes-David Síndrome de Verloes-David Síndrome de mesomelia - sinostosis, tipo Verloes-David-Pfeiffer Síndrome de microdeleción 8q13 Verloes-David syndrome Verloes-David, sindrome de Verloes-David-Syndrom Mesomelia - sinostoses Mesomelia-synostoses syndrome Mikrodeletionssyndrom 8q13 Sindrome da microdelezione 8q13 Syndrome de mésomélie-synostoses Síndrome de mesomelia - sinostosis hrdo:pat_id_2309 191440 neant Q78.8 2497 malformation syndrome Fryns-Hofkens-Fabry syndrome Fryns-Hofkens-Fabry, síndrome de Fryns-Hofkens-Fabry-Syndrom Hipoplasia do cúbito Hypoplasie du cubitus Ipoplasia del gomito Sindrome di Fryns-Hofkens-Fabry Syndrome de Fryns-Hofkens-Fabry Síndrome de Fryns-Hofkens-Fabry Ulna hypoplasia Ulna-Hypoplasie   Displasia mesomelica isolata dell'avanbraccio Displasia mesomélica aislada del antebrazo Displasia mesomélica dos membros superiores Dysplasie mésomélique isolée de l'avant bras Dysplasie, mesomele, der oberen Extremität Upper limb mesomelic dysplasia hrdo:pat_id_231 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 190300 602134 611456 614782 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hereditary+essential+tremor%5Bti%5D+OR+familial+tremor%5Bti%5D+OR+familial+essential+tremor%5Bti%5D+OR+essential+tremor/genetics G25.0 862 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Hereditary essential tremor Temblor esencial hereditario Tremblement essentiel héréditaire Tremor essencial hereditário Tremor, essentieller familiärer Tremore essenziale familiare hrdo:pat_id_2310 309630 neant Q70.0 2498 morphological anomaly Fusion des métacarpes 4 et 5 Fusion of metacarpals 4 and 5 Fusione del IV e V metacarpo Fusión de los metacarpianos 4 y 5 Mittelhandknochen 4 und 5, Fusion der Métacarpes 4 et 5 fusionnés Fusão dos 4 e 5 metacarpianos Sindactilia tipo 8 Sindattilia, tipo 8 Syndactylie type 8 Syndactyly type 8 Syndaktylie Typ 8 hrdo:pat_id_2311 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 156250 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Metachondromatosis Q78.4 2499 205481009 C0410530 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Metachondromatose Metachondromatosis Metacondromatose Metacondromatosi Metacondromatosis Métachondromatose hrdo:pat_id_2312 201200 C538187 2500 238871000 238872007 C0238590 C0406584 malformation syndrome Acrogeria tipo Gottron Acrogeria, Gottron type Acrogeria, tipo Gottron Acrogéria Acrogéria type Gottron Acrogérie type Gottron Acrometageria Acrometageria Acrometageria Acrométagéria Acrométagérie Akrogerie Typ Gottron Akrometagerie Gottron syndrome Gottron-Syndrom Sindrome di Gottron Syndrome de Gottron Síndrome de Gottron Acrogeria Acrogeria Acrogeria Acrogérie Akrogerie Metageria hrdo:pat_id_2313 250400 C537353 Q78.5 2501 254084008 C0432225 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Chondrodysplasie métaphysaire type Spahr Chondrodysplasie, metaphysäre, Typ Spahr Condrodisplasia metafisaria tipo Spahr Condrodisplasia metafisaria, tipo Spahr Condrodisplasia metafisária, tipo Spahr Metaphyseal chondrodysplasia, Spahr type hrdo:pat_id_2314 250420 neant Q78.5 2502 malformation syndrome Disostose metafisária - atraso mental - surdez de condução Disostosi metafisaria - ritardo mentale - sordità Disostosis metafisaria - déficit intelectual - sordera Dysostose métaphysaire - déficit intellectuel - surdité Metaphyseal dysostosis - intellectual deficit - conductive deafness Metaphysäre Dysostose - geistige Retardierung - Schallleitungsschwerhörigkeit hrdo:pat_id_2316 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 156510 neant Q77.8 2504 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia metafisaria - hipoplasia maxilar - braquidactilia Displasia metafisaria - ipoplasia mascellare - brachidattilia Displasia metafisária - hipoplasia maxilar - braquidactilia Dysplasie métaphysaire - dysmorphie - brachydactylie Dysplasie, metaphysäre - Maxillahypoplasie - Brachydaktylie Metaphyseal dysplasia - maxillary hypoplasia - brachydacty hrdo:pat_id_2317 156610 C537575 Q82.8 2505 239142006 C0473586 disease 'Sindrome del bambino ''Michelin''' CCSF CCSF CCSF CCSF CCSF Congenital circumferential skin folds Kunze-Riehm syndrome Kunze-Riehm, síndrome de Kunze-Riehm-Syndrom MTBS MTBS MTBS MTBS MTBS Maladie du bébé Michelin Michelin tire baby syndrome Michelin-Reifen-Baby-Syndrom Michelin-tire-baby-Syndrom Pieghe cutanee circonferenziali congenite Pliegues circulares de la piel congénitos Plis circonférentiels congénitaux de la peau Sindrome di Kunze-Riehm Syndrome de Kunze-Riehm Síndrome de Kunze-Riehm Síndrome de Kunze-Riehm Síndrome del bebé en neumático Michelin Hautfalten, multiple ringförmige, der Extremitäten Multiple benign circumferential skin creases on limbs Pieghe cutanee circonferenziali benigne multiple sugli arti Pliegues circulares benignos múltiples de la piel de las extremidades Plis circulaires bénins multiples de la peau des membres Síndrome do bebé Michelin hrdo:pat_id_2318 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 257920 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Michels+syndrome%5Btw%5D 2506 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Oculo-palato-esquelético, síndrome Oculopalatoskeletal syndrome Okulo-palato-skeletales Syndrom Sindrome oculo-palato-scheletrica Syndrome oculo-palato-squelettique Síndrome oculo-palato-esquelético Síndrome oculo-palato-esquelético Michels syndrome Michels-Syndrom Sindrome di Michels Syndrome de Michels Síndrome de Michels Síndrome de Michels hrdo:pat_id_2319 2507 malformation syndrome Mickleson syndrome Mickleson-Syndrom Sindrome di Mickleson Syndrome de Mickleson Síndrome de Mickleson Síndrome de Mickleson hrdo:pat_id_2320 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300004 2508 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Proud-Levine-Carpenter syndrome Proud-Levine-Carpenter, síndrome de Proud-Levine-Carpenter-Syndrom Sindrome di Proud-Levine-Carpenter Syndrome de Proud-Levine-Carpenter Síndrome de Proud-Levine-Carpenter Síndrome de Proud-Levine-Carpenter Micrencephaly - corpus callosum agenesis - abnormal genitalia Micrencéphalie - agénésie du corps calleux - anomalies génitales Microcefalia - agenesia do corpo caloso Microencefalia - agenesia del corpo calloso - anomalie dei genitali Microencefalia - agenesia del cuerpo calloso Mikrozephalie - Corpus callosum-Agenesie - Genitalfehlbildung hrdo:pat_id_2322 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 600118 614222 614225 neant Q04.3 2510 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome di Warburg-Sjo-Fledelius Syndrome micro-Warburg Síndrome de Warburg-Sjo-Fledelius WARBM1 WARBM1 WARBM1 Warburg Micro syndrome Warburg-Mikro-Syndrom Warburg-Sjo-Fledelius, síndrome de Micro syndrome Mikro-Syndrom Sindrome Micro Syndrome micro Síndrome Micro Síndrome Micro hrdo:pat_id_2323 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 268850 neant Q87.0 2511 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Richieri Costa-Guion Almeida-Ramos syndrome Richieri-Costa-Guion-Almeida Ramos-Syndrom Richieri-Costa-Guion-Almeida, síndrome de Sindrome di Richieri Costa-Guion Almeida-Ramos Syndrome de Richieri Costa-Guion Almeida-Ramos Síndrome de Richieri Costa-Guion Almeida-Ramos Síndrome de Richieri-Costa-Guion-Almeida Microbrachicefalia - ptosi - schisi labiale Microbrachycephaly - ptosis - cleft lip Microbrachycéphalie - ptosis - fente labiale Microbraquicefalia - ptose - fenda labial Microbraquicefalia - ptosis - fisura labial Mikrobrachyzephalie - Ptosis - Lippenspalte hrdo:pat_id_2324 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 203340 C537322 2513 C1859910 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Castro Gago-Pombo-Novo syndrome Castro Gago-Pombo-Novo, síndrome de Castro-Gago-Pomto Novo-Syndrom Sindrome di Castro Gago-Pombo-Novo Syndrome de Castro Gago-Pombo-Novo Síndrome de Castro Gago-Pombo-Novo Microcefalia - albinismo - anomalie digitali Microcefalia - albinismo - anomalías digitales Microcephaly - albinism - digital anomalies Microcéphalie - albinisme - anomalies digitales Mikrozephalie - Albinismus - Fingeranomalien Síndrome microcefalia - albinismo - anomalias dos dedos hrdo:pat_id_2325 156580 C537323 Q02 2514 C0220693 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Autosomal dominant microcephaly Microcefalia autosomica dominante Microcefalia autossómica dominante Microcefalia autosómica dominante Microcéphalie autosomique dominante Mikrozephalie, autosomal-dominante hrdo:pat_id_2326 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 251220 C536711 C537324 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=microcephaly+cardiomyopathy+syndrome Q87.8 2515 C0796061 C1855080 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome di Winship-Viljoen-Leary Syndrome de Winship-Viljoen-Leary Síndrome de Winship-Viljoen-Leary Winship-Viljoen-Leary syndrome Winship-Viljoen-Leary-Syndrom Microcefalia - cardiomiopatia Microcefalia - miocardiopatia Microcefalia - miocardiopatía Microcephaly - cardiomyopathy Microcéphalie - cardiomyopathie Mikrozephalie - Kardiomyopathie hrdo:pat_id_2327 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601355 neant Q87.8 2516 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Ellis-Yale-Winter syndrome Ellis-Yale-Winter, síndrome de Ellis-Yale-Winter-Syndrom Syndrome d'Ellis-Yale-Winter Síndrome de Ellis-Yale-Winter Microcefalia - cardiopatia - defeito de segmentação pulmonar Microcefalia - cardiopatia - difetti della segmentazione polmonare Microcefalia - cardiopatía - malsegmentación pulmonar Microcephaly - cardiac defect - lung malsegmentation Microcéphalie - cardiopathie - malsegmentation pulmonaire Mikrozephalie - Herzfehler - Lungenfehlbildung hrdo:pat_id_2329 251270 2518 malformation syndrome Pseudo-toxoplasmose, síndrome Pseudotoxoplasmose-Syndrom Pseudotoxoplasmosis syndrome Sindrome da pseudotoxoplasmosi Syndrome de pseudotoxoplasmose Síndrome de pseudotoxoplasmosis Síndrome pseudo-toxoplasmose Autosomal recessive chorioretinopathy - microcephaly Chorioretinopathie - Mikrozephalie, autosomal-rezessive Form Choriorétinopathie-microcéphalie, autosomique récessive Corioretinopatia - microcefalia, autosomica recessiva Coriorretinopatia - microcefalia, autossómica recessiva Coriorretinopatía - microcefalia, autosómica recesiva hrdo:pat_id_233 Variabel Variabile Variable Variable Variable Variable Variável 175200 D010580 10034764 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=peutz+jeghers+syndrome%5Bmh%5D+OR+Peutz+Jeghers+Syndrome%5Btw%5D Q85.8 2869 54411001 C0031269 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Hamartomatous intestinal polyposis Intestinal polyposis - cutaneous pigmentation syndrome Intestinale Polyposis - kutane Pigmentierung PJS PJS PJS PJS Polipose hamartomatosa intestinal Polipose intestinal - pigmentação cutânea, síndrome Poliposi amartomatosa intestinale Poliposi intestinale - pigmentazione cutanea Polypose hamartomateuse intestinale Polypose intestinale - pigmentation cutanée Polyposis, hamartöse intestinale SPJ Síndrome polipose intestinal - pigmentação cutânea Peutz-Jeghers syndrome Peutz-Jeghers-Syndrom Sindrome di Peutz-Jeghers Syndrome de Peutz-Jeghers Síndrome de Peutz-Jeghers Síndrome de Peutz-Jeghers hrdo:pat_id_2331 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q87.8 2521 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Halal syndrome Halal, síndrome de Halal-Syndrom Sindrome di Halal Syndrome de Halal Síndrome de Halal Síndrome de Halal Microcefalia - fenda do palato, autossómica dominante Microcephaly - cleft palate Microcéphalie - fente palatine Mikrozephalie - Gaumenspalte Sindrome microcefalia-palatoschisi, autosomica dominante Síndrome de microcefalia fisura palatina, autosómico dominante hrdo:pat_id_2332 251250 C537325 neant Q87.8 2522 C0796066 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Microcefalia - anomalías de fusión de las vértebras cervicales Microcefalia - fusione delle vertebre cervicali Microcefalia - fusão das vértebras cervicais Microcephaly - cervical spine fusion anomalies Microcéphalie - fusions des vertèbres cervicales Mikrozephalie - Fusionsanomalien der Halswirbelsäule hrdo:pat_id_2333 251280 neant Q02 2523 malformation syndrome Franek-Bocker-Kahlen syndrome Franek-Bocker-Kahlen, síndrome de Frarek-Bocker-Kahlen-Syndrom Sindrome di Frarek-Bocker-Kahlen Syndrome de Frarek-Bocker-Kahlen Síndrome de Franek-Bocker-Kahlen Síndrome de Frarek-Bocker-Kahlen Microcefalia - anomalias cerebrais - espasticidade - hipernatremia Microcefalia - hipoplasia cerebral - espasticidad Microcefalia - ipoplasia cerebrale - spasticità Microcephaly - brain defect - spasticity - hypernatremia Microcéphalie - hypoplasie cérébrale - spasticité Mikrozephalie - zerebelläre Hypoplasie - Spastik hrdo:pat_id_2334 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 277470 612389 612390 613811 C548070 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Pontocerebellar+hypoplasia%5Bti%5D+OR+Olivopontocerebellar+Atrophies)+((progressive+microcephaly)+OR+%22type+ii%22+OR+PCH2+OR+%22PCH-2%22) Q04.3 2524 C2932714 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Microcefalia - hipoplasia pontocerebelosa - disquinesia Hipoplasia pontocerebelosa tipo 2 Hipoplasia pontocerebelosa tipo 2 Hypoplasie pontocérébelleuse type 2 Ipoplasia pontocerebellare, tipo 2 Pontocerebellar hypoplasia type 2 Pontozerebelläre Hypoplasie Typ 2 hrdo:pat_id_2336 152950 C537711 2526 C1835265 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Microcefalia - linfedema - corioretinopatia Microcefalia - linfedema - coriorretinopatia Microcefalia - linfedema - coriorretinopatía Microcephaly - lymphedema - chorioretinopathy Microcéphalie - lymphoedème - choriorétinopathie Mikrozephalie - Lymphödem - Chorioretinopathie hrdo:pat_id_2338 C537536 C537539 neant Q87.8 2528 C0796151 C2931524 malformation syndrome Seemanova-Lesny syndrome Seemanova-Lesny, síndrome de Seemanova-Lesny-Syndrom Sindrome di Seemanova-Lesny Syndrome de Seemanova-Lesny Síndrome de Seemanova-Lesny Microcephaly-microcornea syndrome, Seemanova type Microcéphalie-microcornée, type Seemanova Mikrozephalie-Mikrokornea-Syndrom, Typ Seemanova Sindrome microcefalia-microcornea, tipo Seemanova Síndrome de microcefalia-microcórnea, tipo Seemanova Síndrome microcefalia - microcórnea, tipo Seemanova hrdo:pat_id_234 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 101600 C538582 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=acrocephalosyndactylia%5Bmajr%5D+AND+%28pfeiffer%5Btw%5D+OR+noack%5Btw%5D%29 Q87.0 710 70410008 C2931888 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 ACS 5 ACS 5 ACS 5 ACS 5 ACS 5 Acro-céphalo-syndactylie type 5 Acrocefalosindactilia tipo 5 Acrocefalosindattilia, tipo 5 Acrocefalossindactilia tipo 5 (ACPS 5) Acrocephalosyndactyly type 5 Akrozephalosyndaktylie Typ 5 Pfeiffer syndrome Pfeiffer-Syndrom Sindrome di Pfeiffer Syndrome de Pfeiffer Síndrome de Pfeiffer Síndrome de Pfeiffer hrdo:pat_id_2342 156620 neant Q87.8 2533 malformation syndrome Kawashima-Tsuji syndrome Kawashima-Tsuji, síndrome de Sindrome di Kawashima-Tsuji Syndrome de Kawashima-Tsuji Síndrome de Kawashima-Tsuji Síndrome de Kawashima-Tsuji Microcefalia - sordera - déficit intelectual Microcefalia - sordità Microcephaly - deafness - intellectual deficit Microcéphalie - surdité - déficit intellectuel Mikrozephalie - Schwerhörigkeit - Intelligenzminderung Síndrome microcefalia - surdez hrdo:pat_id_2343 C537551 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Microcornea+corectopia+macular+abnormalities+hypoplasia Q15.8 2535 C2931531 malformation syndrome Microcornea - corectopia - macular hypoplasia Microcornea - ectopia della coroide - ipoplasia maculare Microcornée - corectopie - hypoplasie maculaire Microcórnea - corectopia - hipoplasia da mácula Microcórnea corectopia hipoplasia macular Mikrokornea - Korektopie - Makulahypoplasie hrdo:pat_id_2344 156700 C537552 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=microcornea+glaucoma+absent+frontal+sinus Q15.8 2536 C1834935 malformation syndrome Microcornea - glaucoma - absent frontal sinuses Microcornea - glaucoma - assenza del seno frontale Microcornée - glaucome - absence de sinus frontaux Microcórnea - glaucoma - ausencia de senos frontales Microcórnea - glaucoma - seios frontais ausentes Mikrokornea - Glaukom - fehlende Stirnhöhlen hrdo:pat_id_235 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 101400 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Saethre-Chotzen+syndrome%5BTW%5D Q87.0 794 83015004 C0175699 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 ACPS III ACS 3 ACS 3 ACS 3 Acro-céphalo-syndactylie type 3 Acrocefalosindattilia, tipo 3 Acrocefalossindactilia tipo 3 (ACPS 3) Acrocephalosyndactyly type 3 Akrozephalosyndaktylie Typ 3 Saethre-Chotzen syndrome Saethre-Chotzen-Syndrom Sindrome di Saethre-Chotzen Syndrome de Saethre-Chotzen Síndrome de Saethre-Chotzen Síndrome de Saethre-Chotzen hrdo:pat_id_2350 156850 212550 302300 610426 neant Q15.8 2543 malformation syndrome Cataracte congénitale avec microphtalmie Catarata congénita com microftalmia Cataratta congenita con microftalmia Congenital cataract - microphthalmia Katarakt, kongenitale - Mikrophthalmie Microftalmia - catarata Microftalmia - cataratas Microftalmia - cataratta Microphtalmie - cataracte Microphthalmia - cataract Mikrophthalmie - Katarakt hrdo:pat_id_2353 141400 neant Q75.8 2549 malformation syndrome Hemifacial microsomia - radial defects Microsomia emifacciale - anomalie radiali Microsomia hemifacial - defectos radiales Microsomie hémifaciale - anomalies radiales Moeschler-Claren-Syndrom Moeschler-Clarren syndrome Moeschler-Clarren, síndrome de Sindrome di Moeschler-Clarren Syndrome de Moeschler-Clarren Síndrome de Moeschler-Clarren Síndrome de Moeschler-Clarren Espectro oculoauriculovertebral con anomalias radiales Microssomia hemifacial - anomalias radiais Mikrosomie, hemifaziale - radiale Defekte Oculoauriculovertebral spectrum with radial defects Spectre oculo-auriculo-vertébrale avec anomalies radiales Spettro oculo-auricolo-vertebrale con anomalie radiali hrdo:pat_id_2355 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 157151 2551 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome di Verloes-Van Maldergem-Marneffe Syndrome de Verloes-Van Maldergem-de Marneffe Síndrome de Verloes-Van Maldergem-Marneffe Síndrome de Verloes-Van Maldergem-Marneffe Verloes-Van Maldergem-Marneffe, síndrome de Verloes-Van Maldergem-de Marneffe syndrome Microesferofaquia - displasia metafisaria Microsferofachia - displasia metafisaria Microsferofaquia - displasia metafisária Microspherophakia - metaphyseal dysplasia Microsphérophakie - dysplasie métaphysaire Mikrosphärophakie - metaphysäre Dysplasie hrdo:pat_id_2357 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 224690 613800 613803 613804 613805 C538012 neant Q87.2 2554 C1868684 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Meier-Gorlin syndrome Meier-Gorlin, síndrome Meier-Gorlin-Syndrom Ohr-Patella-Kleinwuchs-Syndrom Sindrome di Meier-Gorlin Syndrome de Meier-Gorlin Síndrome Meier-Gorlin Síndrome de Meier-Gorlin Ear-patella-short stature syndrome Microtia - anomalías esqueléticas - talla baja Microtie - anomalies squelettiques - petite taille Mikrotie - Skelettanomalien - Kleinwuchs Sindrome microtia-agenesia delle rotule-bassa statura Síndrome orelha-rótula - baixa estatura hrdo:pat_id_2359 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300887 309801 neant Q11.2 2556 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 MCOPS7 MCOPS7 MCOPS7 MCOPS7 MCOPS7 MIDAS syndrome MLS syndrome MLS, síndrome MLS-Syndrom Microftalmia - aplasia dermica - sclerocornea Microftalmia - aplasia dérmica - esclerocórnea Microftalmia sindromica, tipo 7 Microftalmia sindrómica tipo 7 Microftalmia, aplasia dermica e sclerocornea Microftalmia, aplasia dérmica y esclerocórnea Microphtalmie - aplasie dermique - sclérocornée Microphtalmie syndromique type 7 Microphthalmia - dermal aplasia - sclerocornea Microphthalmia with linear skin defects syndrome Microphthalmia, dermal aplasia, and sclerocornea Mikrophthalmie - Hautaplasie - Sklerokornea Mikrophthalmie, syndromale, Typ 7 Mikrophthalmie-lineares Hautdefekt-Syndrom Sindrome MLS Sindrome della microftalmia con difetti cutanei lineari Syndrome MIDAS Syndrome MLS Syndromic microphthalmia type 7 Síndrome MIDAS Síndrome MLS Síndrome MLS Síndrome de microftalmia con defectos cutáneos lineales MIDAS syndromeMicrophthalmia with linear skin defects syndrome MIDAS-Syndrom Microphtalmie avec défauts linéaires cutanés Sindrome MIDAS Síndrome MIDAS Síndrome de microftalmia con defectos cutáneos lineales hrdo:pat_id_236 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 187300 600376 601101 610655 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=telangiectasia%2C+hereditary+hemorrhagic I78.0 774 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Enfermedad de Rendu-Osler HHT HHT HHT HHT HHT Hereditary hemorrhagic telangiectasia Maladie de Rendu-Osler Malattia di Rendu-Osler Morbus Osler Rendu-Osler disease Telangectasia emorragica ereditaria Telangiectasia Hemorrágica Hereditaria Telangiectasia hemorrágica hereditária Teleangiektasie, hämorrhagische hereditäre Télangiectasie hémorragique héréditaire Doença de Rendu-Osler-Weber Enfermedad de Rendu-Osler-Weber Maladie de Rendu-Osler-Weber Malattia di Rendu-Osler-Weber Rendu-Osler-Weber disease Rendu-Osler-Weber-Krankheit hrdo:pat_id_2360 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 249600 2557 40291001 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso mental tipo Mietens-Weber Déficit intellectuel type Mietens-Weber Geistige Retardierung Typ Mietens-Weber Intellectual deficit, Mietens-Weber type Ritardo mentale, tipo Mietens-Weber Mietens syndrome Mietens-Syndrom Sindrome di Mietens Syndrome de Mietens Síndrome de Mietens Síndrome de Mietens hrdo:pat_id_2361 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Microcephaly%5Bmajr%5DOR+Microcephaly%5Bti%5D%29+%28hypogonadism%5Bmajr%5D+OR+hypogonadism%5Bti%5D%29+hypergonadotropic E22.8 2558 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Microcefalia - hipogonadismo hipergonadotrófico - baixa estatura Microcefalia - hipogonadismo hipergonadotrópico - talla baja Microcefalia - ipogonadismo ipergonadotropico - bassa statura Microcephaly - hypergonadotropic hypogonadism - short stature Microcéphalie - hypogonadisme hypergonadotrope - petite taille Mikrozephalie - hypergonadotroper Hypogonadismus - Kleinwuchs Mikati-Najjar-Sahli syndrome Mikati-Najjar-Sahli-Syndrom Sindrome di Mikati-Najjar-Sahli Syndrome de Mikati-Najjar-Sahli Síndrome de Mikati-Najjar-Sahli Síndrome de Mikati-Najjar-Sahli hrdo:pat_id_2362 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 2560 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Moebius - Neuropatia axonal - hipogonadismo Moebius-Syndrom - axonale Neuropathie - hypogonadotroper Hypogonadismus Möbius syndrome - axonal neuropathy - hypogonadotropic hypogonadism Sindrome di Moebius - neuropatia assonale - ipogonadismo ipogonadotropo Syndrome de Moebius - neuropathie axonale - hypogonadisme hypogonadotrope Síndrome de Möbius - neuropatía axonal - hipogonadismo hipogonadotrópico hrdo:pat_id_2363 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 200970 C538170 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Taurodont+molar+roots K00.2 2561 C1860167 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Molaires pyramidales - glaucome - lèvre supérieure anormale Molar piramidal - glaucoma - anomalias do lábio superior Molare piramidale - glaucoma - anomalia del labbro superiore Pyramidal molar - glaucoma - upper abnormal lip Pyramidale Molare - Glaukom - Oberlippenanomalie Ackerman syndrome Ackerman-Syndrom Sindrome di Ackerman Syndrome d'Ackerman Síndrome de Ackerman Síndrome de Ackerman hrdo:pat_id_2364 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 157980 neant Q87.3 2563 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Macrosomia - obesidad - macrocefalia - anomalías oculares Macrosomia - obesity - macrocephaly - ocular abnormalities Macrosomia - obesità - macrocefalia - anomalie oculari Macrosomie - obésité - macrocéphalie - anomalies oculaires Macrossomia - obesidade - macrocefalia - anomalias oculares Makrosomie - Adipositas - Makrozephalie - Augenanomalien MOMO syndrome MOMO-Syndrom Sindrome di Momo Syndrome MOMO Síndrome MOMO Síndrome MOMO hrdo:pat_id_2365 187510 neant Q73.8 2564 malformation syndrome Sindrome di Sommer-Hines Sommer-Hines syndrome Sommer-Hines, síndrome de Sommer-Hines-Syndrom Syndrome de Sommer-Hines Síndrome de Sommer-Hines Síndrome de Sommer-Hines Monodactilia tetramélica Monodactilia tetramélica Monodactylie tétramélique Monodaktylie, tetramelische Monodattilia tetramelica Tetramelic monodactyly hrdo:pat_id_2366 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 301940 C535914 2565 C2931060 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia scheletrica - brachidattilia Displasia óssea - braquidactilia Dysplasie du squelette - brachydactylie Skeletal dysplasia - brachydactyly Skelettdysplasie mit Brachydaktylie Mononen-Karnes-Senac syndrome Mononen-Karnes-Senac-Syndrom Sindrome di Mononen-Karnes-Senac Syndrome de Mononen-Karnes-Senac Síndrome de Mononen Karnes Senac Síndrome de Mononen-Karnes-Senac hrdo:pat_id_2369 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 127200 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Moore+Federman%5Btw%5D Q87.1 2569 72913007 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dwarfism - stiff joint - ocular abnormalities Enanismo - contracturas articulares - anomalías oculares Kleinwuchs - eingeschränkte Gelenkmobilität - Augenanomalien Nanisme - raideur articulaire - anomalies oculaires Nanismo - rigidez articular - anomalias oculares Nanismo - rigidità articolare - anomalie oculari Moore-Federman syndrome Moore-Federman-Syndrom Sindrome di Moore-Federman Syndrome de Moore-Federman Síndrome de Moore-Federman Síndrome de Moore-Federman hrdo:pat_id_237 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 113650 610896 D019280 neant Q87.8 107 290006 C0265234 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Branchio-oto-renales Syndrom Branchiootorenal syndrome Branquio-oto-renal, síndrome Sindrome branchio-oto-renale Syndrome branchio-oto-rénal Síndrome branquio-oto-renal Síndrome branquio-oto-renal BOR syndrome BOR-Syndrom Sindrome BOR Syndrome BOR Síndrome BOR Síndrome BOR hrdo:pat_id_2370 306990 neant Q04.2 2570 malformation syndrome Morse-Rawnsley-Sargent syndrome Morse-Rawnsley-Sargent-Syndrom Sindrome di Morse-Rawnsley-Sargent Syndrome de Morse-Rawnsley-Sargent Síndrome de Morse-Rawnsley-Sargent Síndrome de Morse-Rawnsley-Sargent hrdo:pat_id_2371 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300076 neant D82.8 2571 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome di Woods-Black-Norbury Syndrome de Woods-Black-Norbury Síndrome de Woods-Black-Norbury Síndrome de Woods-Black-Norbury Woods-Black-Norbury syndrome Woods-Black-Norbury, síndrome de Immuno-neurologische Krankheit, X-chromosomale Malattia immunoneurologica legata all'X Morte neonatal - imunodeficiência Syndrome immuno-neurologique lié à l'X Trastorno inmunoneurológico ligado al X X-linked immunoneurologic disorder hrdo:pat_id_2372 271320 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=spinocerebellar+degeneration+corneal+dystrophy G11.8 2572 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Atassia spastica - anomalie oculari Ataxie spinocérébelleuse - anomalies oculaires Ataxie, spastische - Augenanomalien Bedouin spastic ataxia syndrome Mousa-Al Din-Al Nassar syndrome Mousa-Al Din-Al Nassar-Syndrom Sindrome da atassia spastica, tipo Beduino Sindrome di Mousa-Al Din-Al Nassar Spastic ataxia - ocular anomalies Spastische-Ataxie-Syndrom Bedouin Syndrome d'ataxie spinocérébelleuse bédouine Syndrome de Mousa-Al Din-Al Nassar Síndrome de ataxia espástica beduina Atassia spastica - distrofia corneale Ataxie spinocérébelleuse - dystrophie cornéenne Ataxie, spastische - Hornhautdystrophie Spastic ataxia - corneal dystrophy Síndrome de Mousa Al Din Al Nassar Síndrome de Mousa-Al Din-Al Nassar hrdo:pat_id_2373 Variabel Variabile Variable Variable Variable Variable Variável 252350 607151 608796 614042 C536991 D009072 10028047 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Moya+Moya%5Bti%5D+OR+moyamoya+disease%5Bmh%5D I67.5 2573 69116000 89142007 C0026654 C2931384 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Doença de Moya-Moya Enfermedad de Moyamoya Maladie de Moyamoya Malattia di Moyamoya Moyamoya disease Moyamoya-Krankheit hrdo:pat_id_2374 203600 2574 45167004 malformation syndrome Alopecia - epilepsia - oligofrenia Alopecia - epilepsia - oligofrenia - síndrome de Moynahan Alopecia - epilessia - oligofrenia Alopecia-epilepsy-oligophrenia syndrome, Moynahan type Alopezie - Epilepsie - Oligophrenie Alopécie - épilepsie - oligophrénie Moynahan syndrome Moynahan-Syndrom Sindrome di Moynahan Syndrome de Moynahan Síndrome de Moynahan Síndrome de Moynahan hrdo:pat_id_2375 Variabel Variabile Variable Variable Variable Variable Variável 191900 10064569 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Muckle-Wells%5Btw%5D E85.0 L50.8 575 15123008 C0268390 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Orticaria - sordità - amiloidosi Urticaire - surdité - amylose rénale Urticaria - deafness - amyloidosis Urticaria - sordera - amiloidosis Urticaria - surdez - amiloidose Urticária - surdez - amiloidose Urtikaria - Schwerhörigkeit - Amyloidose Muckle-Wells syndrome Muckle-Wells-Syndrom Sindrome di Muckle-Wells Syndrome de Muckle-Wells Síndrome de Muckle-Wells Síndrome de Muckle-Wells hrdo:pat_id_2376 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 253250 C538604 D050336 neant Q87.1 2576 81604003 C0524582 C2931895 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atteinte péricardique - retard de croissance MULIBREY dwarfism Mulibrey-Nanism-Syndrom Muscle-liver-brain-eye nanism Nanisme muscle-foie-cerveau-oeil Perheentupa syndrome Pericardial constriction - growth failure Pericardite constritiva - atraso do crescimento Perikardkonstriktion - Wachstumsverzögerung Syndrome de Perheentupa Síndrome de Perheentupa Enanismo MULIBREY MULIBREY nanism MULIBREY-Kleinwuchs Nanisme MULIBREY Nanismo MULIBREY Nanismo de Mulibrey hrdo:pat_id_2378 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601076 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=MURCS+association%5Btw%5D Q87.8 2578 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Anomalie de Klippel-Feil - surdité - absence de vagin Aplasia Mülleriana - aplasia renale - displasia dei somiti cervicotoracici Aplasia mulleriana - aplasia renal - displasia dos sómitos cervico-torácicos Aplasie mullérienne - aplasie rénale - dysplasie cervico-thoracique Deformità di Klippel-Feil - sordità conduttiva - agenesia della vagina Klippel-Feil deformity - conductive deafness - absent vagina Klippel-Feil-Syndrom - Schallleitungsschwerhörigkeit - Fehlen der Vagina MRKH syndrome type 2 Mayer-Rokitansky-Küster-Hauser syndrome type 2 Mayer-Rokitansky-Küster-Hauser, tipo 2 (MRKH tipo 2), síndrome de Mayer-Rokitansky-Küster-Hauser-Syndrom Typ 2 (MRKH Typ 2) Mullerian aplasia - renal aplasia - cervicothoracic somite dysplasia Müller-Gang-Aplasie - Nierenaplasie - Dysplasie der zerviko-thorakalen Somiten Sindrome di Mayer-Rokitansky-Küster-Hauser, tipo 2 (MRKH tipo 2) Syndrome MRKH type 2 Síndrome de Mayer-Rokitansky-Küster-Hauser, tipo 2 (MRKH tipo 2) Asociación MURCS Association MURCS Associazione MURCS Associação MURCS MURCS association MURCS-Assoziation hrdo:pat_id_2379 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 158500 C538193 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=muscular+atrophy+ataxia+retinitis+pigmentosa+diabetes 2579 237611007 C0342281 C2931765 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Furukawa-Taakagi-Nakao-Syndrom Furukawa-Takagi-Nakao syndrome Furukawa-Takagi-Nakao, síndrome de Sindrome di Furukawa-Takagi-Nakao Syndrome de Furukawa-Takagi-Nakao Síndrome de Furukawa-Takagi-Nakao Atrofia muscolare - atassia - retinite pigmentosa - diabete mellito Atrofia muscular - ataxia - retinite pigmentosa - diabetes mellitus Atrofia muscular - ataxia - retinosis pigmentaria - diabetes Atrophie musculaire - ataxie - rétinite pigmentaire - diabète Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus Muskelatrophie - Ataxie - Retinitis pigmentosa - Diabetes mellitus hrdo:pat_id_238 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 110100 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=blepharophimosis%5Bmh%5D+AND+blepharoptosis%5Bmh%5D+AND+epicanthus%5Btw%5D Q10.3 126 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Blefarofimose tipos 1 e 2 Blefarofimosi, tipi 1 e 2 Blepharophimose, Typ 1 und 2 Blepharophimosis types 1 and 2 Blépharophimosis types 1 et 2 Blefarofimose, epicanto inverso e ptose Blefarofimosi - epicanto inverso - ptosi Blefarofimosis-ptosis-epicanto inverso Blepharophimose - Epicanthus inversus - Ptosis Blepharophimosis - epicanthus inversus - ptosis Blépharophimosis - ptosis - épicanthus inversus hrdo:pat_id_2381 2580 malformation syndrome Anomalia da cintura escapular - atraso mental, familiar Anomalie dei muscoli del cingolo scapolare - ritardo mentale familiare Anomalie des muscles de la ceinture scapulaire - déficit intellectuel Anomalías musculares de cintura escapular - déficit intelectual familiar Schultergürtelsyndrom - geistige Retardierung, familiärer Typ Shoulder and girdle defects - familial intellectual deficit hrdo:pat_id_2383 159550 2585 malformation syndrome Ataxia - pancitopenia, síndrome Ataxie-Panzytopenie-Syndrom Disturbo mielocerebellare Myelocerebellar disorder Syndrome myélo-cérébelleux Síndrome ataxia - pancitopenia Síndrome mielocerebeloso Atassia - pancitopenia Ataxia - pancitopenia Ataxia - pancytopenia Ataxie - pancytopénie Doença mielocerebelosa Myelo-zerebelläres Syndrom hrdo:pat_id_2385 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 139210 neant Q87.8 2588 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dismorfia facial - défice intelectual - baixa estatura - surdez Dismorfismi facciali - ritardo mentale - bassa statura - ipoacusia Dismorfismo facial - déficit intelectual - estatura baja - pérdida de audición Dysmorphie faciale - déficit intellectuel - petite taille - surdité Facial dysmorphism - intellectual deficit - short stature - hearing loss Gesichtsdysmorphien - Intelligenzminderung - Kleinwuchs - Hörverlust Myhre syndrome Myhre-Syndrom Sindrome di Myhre Syndrome de Myhre Síndrome de Myhre Síndrome de Myhre hrdo:pat_id_2386 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 159800 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Myoclonus%5Bti%5D+cerebellar+ataxia+deafness G11.1 2589 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Mioclonia - atassia cerebellare - sordità Mioclonia - ataxia cerebelosa - surdez Mioclonia ataxia cerebelosa sordera Myoclonie - ataxie cérébelleuse - surdité Myoclonus - cerebellar ataxia - deafness Myoklonie - zerebelläre Ataxie - Taubheit hrdo:pat_id_2387 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis 159950 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=myoclonus+distal+muscular+atrophy G25.3 2590 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Jankovi-Rivera, síndrome de Jankovic-Rivera syndrome Jankovic-Rivera-Syndrom Sindrome di Jankovic-Rivera Syndrome de Jankovic-Rivera Síndrome de Jankovi-Rivera Síndrome de Jankovic-Rivera Hereditary myoclonus - progressive distal muscular atrophy Hereditärer Myoklonus - Progressive distale Muskelatrophie Mioclonia hereditária - atrofia muscular distal progressiva Mioclonias - atrofia muscular distal Mioclonie - atrofia muscolare distale Myoclonie - atrophie musculaire distale hrdo:pat_id_2388 160565 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Myopathies%2C+Structural%2C+Congenital%5Bmh%5D+OR+myopath*%5BTi%5D%29+tubular%5Btw%5D+aggregate*%5Btw%5D G71.2 2593 240087000 C0410207 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Miopatia con aggregati tubulari Miopatia de agregados tubulares Miopatía con agregados tubulares Myopathie avec agrégats tubulaires Myopathie mit tubulären Aggregaten Tubular aggregate myopathy hrdo:pat_id_2389 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 160980 605244 D056733 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Carney+syndrome%5Btw%5D+OR+Carney+complex%5Bti%5D+OR+%28Myxoma+spotty+pigmentation+endocrine+overactivity%29 D44.8 1359 239132009 C0406810 C2607929 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Carney syndrome Carney-Syndrom Mixoma - iperpigmentazione - iperattività endocrina Mixoma - macchie pigmentarie - iperattività endocrina Mixoma - manchas - hiperfunção endócrina Mixoma - pigmentación irregular - hiperactividad endocrina Myxoma - spotty pigmentation - endocrine overactivity Myxome - fleckförmige Hautpigmentierung - hormonelle Überfunktion   Myxome - hyperpigmentation - hyperactivité endocrinienne Sindrome di Carney Syndrome de Carney Síndrome de Carney Carney complex Carney-Komplex Complejo de Carney Complesso di Carney Complexe de Carney Síndrome de Carney hrdo:pat_id_2390 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 310465 C536108 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=N+syndrome%5Btw%5D Q87.8 2608 C2936859 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 N syndrome N-Syndrom Sindrome N Syndrome N Síndrome N Síndrome N hrdo:pat_id_2392 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 256020 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Salcedo+nail-patella+syndrome 2613 236527004 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Salcedo syndrome Salcedo, síndrome de Salcedo-Syndrom Sindrome di Salcedo Syndrome de Salcedo Síndrome de Salcedo Síndrome de Salcedo Malattia renale nail-patella-simile Nagel-Patella-Syndrom-ähnliche Nierenerkrankung Nail Patella like - enfermedad renal Nail patella-like - renal disease Nail-patella-like - maladie rénale Nefropatia unha-rótula - like hrdo:pat_id_2393 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 273750 612921 614205 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%283m%5Bti%5D+OR+3+m%5Bti%5D%29+syndrome Q87.1 2616 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 3-M syndrome Displasia dolicospondilica Displasia dolicospondilica Displasia dolicospondilítica Dolicospondylic dysplasia Dysplasie dolichospondylique Dysplasie, dolichospondyläre Enanismo 3M Face tristonha, síndrome Gloomy syndrome Gloomy-Syndrom Le Merrer syndrome Le Merrer, síndrome de Le-Merrer-Syndrom Nanisme 3M Sindrome 3-M Sindrome di Gloomy Sindrome di Le Merrer Syndrome 3-M Syndrome de Le Merrer Syndrome du faciès boudeur Síndrome 3-M Síndrome de Gloomy Síndrome de Le Merrer Síndrome de Le Merrer Síndrome face tristonha 3M syndrome 3M-Syndrom Sindrome 3M Syndrome 3M Síndrome 3M Síndrome 3M hrdo:pat_id_2396 210700 C535448 neant Q87.1 2617 C1859468 malformation syndrome Bird headed-dwarfism, Montreal type Enanismo con cabeza de pájaro tipo Montreal Nanisme à tête d'oiseau type Montréal Nanismo 'cabeça de pássaro' tipo Montreal Nanismo a ''testa di uccello'', tipo Montreal Vogelkopf-Kleinwuchs Typ Montreal hrdo:pat_id_2399 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=low+birth+weight+dwarfism+dysgammaglobulinaemia D82.8 2621 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Christian-Rosenberg syndrome Christian-Rosenberg, síndrome de Christian-Rosenberg-Syndrom Sindrome di Christian-Rosenberg Syndrome de Christian-Rosenberg Síndrome de Christian-Rosenberg Síndrome de Christian-Rosenberg Baixo peso ao nascimento - nanismo - disgamaglobulinemia Bajo peso al nacer - enanismo - disgammaglobulinemia Basso peso alla nascita - nanismo - disgammaglobulinemia Low birth weight - dwarfism - dysgammaglobulinemia Nanisme - dysgammaglobulinémie Niedriges Geburtsgewicht - Kleinwuchs - Dysgammaglobulinämie hrdo:pat_id_24 Adulte jeune Adultos jóvenes Giovani adulti Jovem adulto Junge Erwachsene Young adult Young adult Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 253200 D009087 10056892 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=mucopolysaccharidosis+vi%5Bmajr%5D E76.2 583 52677002 69463008 C0026709 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 ARSB deficiency ARSB-Mangel ASB deficiency ASB-Mangel Arylsulfatase B deficiency Arylsulfatase B-Mangel Deficit di ARSB Deficit di ASB Deficit di N-acetilgalattosamina 4-sulfatasi Deficit di arilsulfatasi B Déficit en ARBS Déficit en ASB Déficit en arylsulfatase B MPS6 MPS6 MPS6 MPS6 MPSVI MPSVI MPSVI MPSVI Maladie de Maroteaux-Lamy Maroteaux-Lamy disease Maroteaux-Lamy-Syndrom Mucopolisacaridosis tipo VI Mucopolisaccaridosi VI Mucopolysaccharidose VI Mucopolysaccharidosis VI Mukopolysaccharidose VI N-Acetylgalactosamin 4-Sulfatase-Mangel N-acetylgalactosamine 4-sulfatase deficiency Sindrome di Maroteaux-Lamy Mucopolisacaridosis tipo 6 Mucopolisaccaridosi, tipo 6 Mucopolissacaridose tipo 6 (MPS6) Mucopolysaccharidose type 6 Mucopolysaccharidosis type 6 Mukopolysaccharidose Typ 6 hrdo:pat_id_240 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 303600 D038921 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22coffin-lowry+syndrome%22%5Btw%5D Q87.0 192 15182000 C0265252 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 CLS CLS CLS CLS CLS Coffin-Lowry syndrome Coffin-Lowry-Syndrom Sindrome di Coffin-Lowry Syndrome de Coffin-Lowry Síndrome de Coffin-Lowry Síndrome de Coffin-Lowry hrdo:pat_id_2401 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 231050 614185 C537677 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Geleophysic+dysplasia%5Btw%5D+OR+Geleophysic+dwarfism%5Btw%5D Q87.1 2623 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dysplasie, geleophysische Enanismo geleofísico Geleophysic dwarfism Nanisme géléophysique Nanismo geleofisico Displasia geleofisica Displasia geleofísica Dysplasie géléophysique Geleophysic dysplasia Kleinwuchs, geleophysischer Nanismo geleofísico hrdo:pat_id_2408 249710 neant Q78.8 2631 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Reardon-Hall-Slaney syndrome Reardon-Hall-Slaney, síndrome de Reardon-Hall-Slaney-Syndrom Sindrome di Reardon-Hall-Slaney Syndrome de Reardon-Hall-Slaney Síndrome de Reardon-Hall-Slaney Síndrome de Reardon-Hall-Slaney Enanismo mesomélico - fisura palatina - camptodactilia Kleinwuchs, mesomeler - Gaumenspalte - Kamptodaktylie Mesomelic dwarfism - cleft palate - camptodactyly Nanisme mésomélique - fente palatine - camptodactylie Nanismo mesomelico - palatoschisi - camptodattilia Nanismo mesomélico - fenda do palato - camptodactilia hrdo:pat_id_2409 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 249700 C537267 Q87.1 2632 38494008 C0432230 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Mesomelic dwarfism, Langer type Nanisme mésomélique type Langer Displasia mesomelica, tipo Langer Displasia mesomélica de Langer Dysplasie mésomélique type Langer Kleinwuchs, mesomeler, Typ Langer Langer mesomelic dysplasia Nanismo mesomélico tipo Langer hrdo:pat_id_2410 163400 neant Q78.8 2633 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Nievergelt syndrome Nievergelt, síndrome de Nievergelt-Syndrom Sindrome di Nievergelt Syndrome de Nievergelt Síndrome de Nievergelt Síndrome de Nievergelt Enanismo mesomélico tipo Nievergelt Kleinwuchs, mesomeler, Typ Nievergelt Mesomelic dwarfism, Nievergelt type Nanisme mésomélique type Nievergelt Nanismo mesomelico, tipo Nievergelt Nanismo mesomélico tipo Nievergelt hrdo:pat_id_2411 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 191400 C537349 neant Q78.8 2634 C1860616 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Displasia mesomelica di Reinhardt-Pfeiffer Displasia mesomélica de Reinhardt-Pfeiffer Dysplasie mésomélique de Reinhardt-Pfeiffer Mesomele Dysplasie Typ Reinhardt-Pfeiffer Reinhardt-Pfeiffer mesomelic dysplasia Reinhardt-Pfeiffer syndrome Reinhardt-Pfeiffer, síndrome de Reinhardt-Pfeiffer-Syndrom Sindrome di Reinhardt-Pfeiffer Syndrome de Reinhardt-Pfeiffer Síndrome de Reinhardt-Pfeiffer Síndrome de Reinhardt-Pfeiffer Enanismo mesomélico de tipo Reinhardt-Pfeiffer Kleinwuchs, mesomeler, Typ Reinhardt-Pfeiffer Mesomelic dwarfism, Reinhardt-Pfeiffer type Nanisme mésomélique type Reinhardt-Pfeiffer Nanismo mesomelico, tipo Reinhardt-Pfeiffer Nanismo mesomélico tipo Reinhardt-Pfeiffer hrdo:pat_id_2413 228900 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=((fibula%2Fab+OR+Fibula*%5Bti%5D)+brachydactyly)+OR+Du+Pan+syndrome%5Btw%5D Q73.8 2639 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Du Pan syndrome Du Pan-Syndrom Sindrome di Du Pan Syndrome de Du Pan Síndrome de Du Pan Aplasia del perone - brachidattilia Aplasia del peroné - braquidactilia compleja Aplasie du péroné - brachydactylie Fibula-Aplasie - komplexe Brachydaktylie Fibular aplasia - complex brachydactyly Nanismo de membros curtos - ausência de perónios - dedos muito curtos hrdo:pat_id_2414 2640 malformation syndrome McAlister-Crane syndrome Mcalister-Crane, síndrome de Mcalister-Crane-Syndrom Sindrome di Mcalister-Crane Syndrome de McAlister-Crane Síndrome de McAlister-Crane Síndrome de Mcalister-Crane Enanismo micromélico letal tipo McAlister Crane Kleinwuchs, letaler Typ Mcalister Crane Nanisme micromélique létal type McAlister-Crane Nanismo de membros curtos letal tipo Macalister-Crane Nanismo micromelico letale, tipo McAlister-Crane Short limb-dwarf lethal, McAlister-Crane type hrdo:pat_id_2415 601096 C537556 neant Q77.8 2641 C1832800 disease Enanismo micromélico tipo Fryns Kleinwuchs, mikromeler, Typ Fryns Micromelic dwarfism, Fryns type Nanisme micromélique type Fryns Nanismo micromelico, tipo Fryns Nanismo micromélico, tipo Fryns hrdo:pat_id_2417 251190 C537321 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Microcephaly%5Bmh%5D+OR+microcephal*%5Bti%5D)+dwarfism+(immune+deficiency+OR+Immunologic+Deficiency+Syndromes)+cataract Q87.1 2643 C1855089 malformation syndrome Enanismo osteodisplásico primordial tipo Toriello Kleinwuchs, mikrozephaler primordialer, Typ Toriello Microcephalic primordial dwarfism, Toriello type Nanisme microcéphalique primordial type Toriello Nanismo microcefálico primordial tipo Toriello Nanismo osteodisplasico primitivo, tipo Toriello hrdo:pat_id_2418 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 210710 210730 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=primordial+dwarfism+NOT+(seckel+OR+%22type+ii%22+OR+%22type+2%22) Q87.1 2636 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Enanismo microcefálico osteodisplásico primordial tipo Taybi-Linder Enanismo microcefálico primordial tipo Crachami Kleinwuchs, mikrozephaler osteodysplastischer primordialer, Typ Crachami Kleinwuchs, mikrozephaler osteodysplastischer primordialer, Typ Taybi-Linder MOPD Typen I und III MOPD tipos I y III MOPD types I and III MOPD types I et III MOPD, tipi I e III Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type Nanisme microcéphalique ostéodysplastique primordial type Crachami Nanisme microcéphalique ostéodysplastique primordial type Taybi-Linder Nanismo osteodisplastico microcefalico primitivo, tipo Crachami Nanismo osteodisplastico microcefalico primitivo, tipo Taybi-Linder Primordial microcephalic dwarfism, Crachami type Sindrome di Taybi-Linder Syndrome de Taybi-Linder Síndrome de Taybi-Linder Taybi-Linder syndrome Taybi-Linder-Syndrom Enanismo microcefálico osteodisplásico primordial tipos 1 y 3 Kleinwuchs, mikrozephaler osteodysplastischer primordialer, Typ 1 und 3 Microcephalic osteodysplastic primordial dwarfism types 1 and 3 Nanisme microcéphalique ostéodysplasique primordial types 1 et 3 Nanismo microcefálico osteodisplásico primordial tipo 1 Nanismo osteodisplastico microcefalico primitivo, tipi 1 e 3 hrdo:pat_id_242 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 218800 606785 D003414 10011386 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%22crigler-najjar+syndrome%22%5BTw%5D+NOT+Medline%5BSB%5D%29+OR+%22crigler-najjar+syndrome%22%5BMH%5D E80.5 205 28259009 C0010324 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Bilirrubina uridinadifosfato glucoronosiltransferase, deficiência de Bilirubin uridinediphosphate glucuronosyltransferase deficiency Bilirubin-UGT deficiency Bilirubin-UGT-Mangel Bilirubin-Uridindiphosphat-Glucuronosyltransferase-Mangel Deficit di UGT Deficit di bilirubina uridina-difosfato glucuronosiltransferasi Deficit di bilirubina-UGT Deficiência de bilirrubina uridinadifosfato glucoronosiltransferase Déficit de UGT Déficit de bilirrubina uridinadifosfato glucuronosiltransferasa Déficit de bilirrubina uridindifosfato glucuronosiltransferasa Déficit de bilirrubina-UGT Déficit en UGT Déficit en bilirubine uridinediphosphate glucuronosyltransférase Déficit en bilirubine-UGT Hereditary unconjugated hyperbilirubinemia Hiperbilirrubinemia no conjugada hereditaria Hiperbilirrubinemia não-conjugada tipo 1 Hyperbilirubinämie, familiäre unkonjugierte Hyperbilirubinémie non conjuguée familiale Iperbilirubinemia non coniugata ereditaria UGT deficiency UGT-Mangel Crigler-Najjar syndrome Crigler-Najjar-Syndrom Sindrome di Crigler-Najjar Syndrome de Crigler-Najjar Síndrome de Crigler-Najjar Síndrome de Crigler-Najjar hrdo:pat_id_2420 166250 C536050 Q87.1 2645 254144002 C0432283 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Dysplasie, osteoglophone Enanismo osteoglofónico Nanisme ostéoglophonique Nanismo osteoglofonico Nanismo osteoglofónico Osteoglophonic dwarfism hrdo:pat_id_2421 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 168400 C537172 Q87.1 2646 254095002 C1868616 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dysplasie, parastrematische Enanismo parastremático Kleinwuchs, parastrematischer Nanisme parastremmatique Nanismo parastremmatico Nanismo parastremático Parastremmatic dwarfism hrdo:pat_id_2424 223540 neant Q87.1 2650 malformation syndrome Mollica-Pavone-Antener syndrome Mollica-Pavone-Antener, síndrome de Mollica-Pavone-Antener-Syndrom Sindrome di Mollica-Pavone-Antener Syndrome de Mollica-Pavone-Antener Síndrome de Mollica-Pavone-Antener Dwarfism - intellectual deficit - eye abnormality Enanismo - déficit intelectual - anomalías oculares Kleinwuchs - geistige Retardierung - Augenanomalien Nanisme - déficit intellectuel - anomalies de l'œil Nanismo - atraso mental - anomalias oculares Nanismo - ritardo mentale - anomalie dell'occhio hrdo:pat_id_2426 272450 2654 disease Laplane-Fontaine-Lagardere syndrome Laplane-Fontaine-Lagardere, síndrome de Laplane-Fontaine-Lagardere-Syndrom Sindrome di Laplane-Fontaine-Lagardère Syndrome de Laplane-Fontaine-Lagardère Síndrome de Laplane-Fontaine-Lagardere Síndrome de Laplane-Fontaine-Lagardere Enanismo sindesmo displásico Kleinwuchs, syndesmodysplastischer Nanisme syndesmo-dysplasique Nanismo sindesmodisplastico Nanismo sindesmodisplásico Syndesmodysplasic dwarfism hrdo:pat_id_2429 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 151050 C537115 Q87.1 2658 1393001 C0432269 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Enanismo hiperostótico de Lenz-Majewski Kleinwuchs, hyperostotischer, Typ Lenz-Majewski Lenz-Majewski hyperostotic dwarfism Nanisme de Lenz-Majewski Nanismo hiperostótico de Lenz-Majewski Nanismo iperostotico, tipo Lenz-Majewski hrdo:pat_id_243 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 158350 612359 615106 615107 615108 615109 D006223 10051906 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Hamartoma+Syndrome%2C+Multiple%5BTW%5D+OR+Multiple+Hamartoma+Syndrome%5BTW%5D+OR+%22hamartoma+syndrome%2C+multiple%22%5BMeSH+Terms%5D Q85.8 201 58037000 C0018553 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Amartomi multipli Hamartoma múltiplo, síndrome de Hamartomes multiples Multiple hamartoma syndrome Síndrome de hamartoma múltiplo Cowden syndrome Cowden-Syndrom Sindrome di Cowden Syndrome de Cowden Síndrome de Cowden Síndrome de Cowden hrdo:pat_id_2432 126950 C535725 2661 C1851996 malformation syndrome Dwarfism - tall vertebrae Enanismo - vértebras altas Kleinwuchs - hohe Wirbelkörper Nanisme - vertèbres hautes Nanismo - vertebre alte Nanismo de vértebras altas hrdo:pat_id_2433 255980 neant Q87.0 2662 malformation syndrome Naso-digito-akustisches Syndrom Nasodigitoacoustic syndrome Sindrome naso-digito-acustica Syndrome naso-digito-acoustique Síndrome naso dígito acústico Keipert syndrome Keipert-Syndrom Sindrome di Keipert Syndrome de Keipert Síndrome de Keipert Síndrome naso-digito-acústico hrdo:pat_id_2434 255990 C538342 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=deafness+cataract+muscular+atrophy+retardation+growth Q87.8 2663 C1850626 malformation syndrome Deafness - cataracts - skeletal anomalies Surdité - cataracte - anomalies squelettiques Nathalie syndrome Nathalie-Syndrom Sindrome di Nathalie Syndrome de Nathalie Síndrome de Nathalie Síndrome de Nathalie hrdo:pat_id_2435 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 256120 C536401 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=nephropathy+deafness+hyperparathyroidism+recessive Q87.8 2668 C1850553 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Edwards-Patton-Dilly syndrome Edwards-Patton-Dilly, síndrome de Edwards-Patton-Dilly-Syndrom Sindrome di Edwards-Patton-Dilly Syndrome d'Edwards-Patton-Dilly Síndrome de Edwards-Patton-Dilly Síndrome de Edwards-Patton-Dilly Nefropatia - sordità - iperparatiroidismo Nefropatia - surdez - hiperparatiroidismo Nefropatía - sordera - hiperparatiroidismo Nephropathie - Schwerhörigkeit - Hyperparathyreoidismus Nephropathy - deafness - hyperparathyroidism Néphropathie - surdité - hyperparathyroïdie hrdo:pat_id_2436 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 256200 C536402 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Braun+nephrosis+deafness+urinary+tract Q87.8 2669 C1850552 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Braun-Bayer syndrome Braun-Bayer, síndrome de Braun-Bayer-Syndrom Sindrome di Braun-Bayer Syndrome de Braun-Bayer Síndrome de Braun-Bayer Síndrome de Braun-Bayer Nefrose - surdez - malformações uro-digitais Nefrosi - sordità - anomalie delle vie urinarie e delle dita Nefrosis - sordera - anomalías del tracto urinario y digitales Nephrose - Schwerhörigkeit - Harnwegsanomalien - Fingerfehlbildungen Nephrosis - deafness - urinary tract - digital malformations Néphrose - surdité - anomalies des voies urinaires et des doigts hrdo:pat_id_2437 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 609049 C537185 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Pierson+syndrome%5Btw%5D+OR+((pupil%2Fab+OR+eye+abnormalities)+(congenital+nephrosis%5Bti%5D+OR+nephrosis%2Fcn)) N04.8 2670 C1836876 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Microcoria - congenital nephrosis Microcoria - nefrosi congenita Microcorie - néphrose congénitale Mikrokorie - kongenitale Nephrose Pierson ,síndrome de Síndrome de Glastre-Cochat-Bouvier Síndrome de Pierson Síndrome nefrótico - anomalías oculares Microcoria - nefrose congénita Pierson syndrome Pierson-Syndrom Sindrome di Pierson Syndrome de Pierson Síndrome de Pierson hrdo:pat_id_2438 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 120330 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Optic+nerve+coloboma+renal+disease+OR+papillorenal%5Bti%5D Q14.2 Q60.4 1475 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Coloboma del nervio óptico con enfermedad renal Coloboma del nervo ottico con malattia renale Coloboma of optic nerve with renal disease Colobome du nerf optique - néphropathie Kolobome des Sehnervs - Nierenkrankheit Nieren-Kolobom-Syndrom Papillo-renal syndrome Papillo-renales Syndrom Sindrome papillo-renale Syndrome papillo-rénal Síndrome papilo-renal Coloboma do nervo ótico com nefropatia Renal coloboma syndrome Renales-Kolobom-Syndrom Sindrome reni-coloboma Syndrome rein-colobome Síndrome renal-coloboma hrdo:pat_id_2439 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 256520 C536405 neant Q87.8 2671 77817004 C0265218 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Neu-Laxova syndrome Neu-Laxova-Syndrom Sindrome di Neu-Laxova Syndrome de Neu-Laxova Síndrome de Neu-Laxova Síndrome de Neu-Laxova hrdo:pat_id_244 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 123500 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Crouzon%27s+disease%5BTW%5D+OR+Crouzon%27s+syndrome%5BTW%5D+OR+Crouzon+syndrome%5BTW%5D+OR+Crouzon+disease%5BTW%5D Q75.1 207 28861008 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Crouzon craniofacial dysostosis Disostose cranio-facial de Crouzon Disostosi craniofacciale di Crouzon Dysostose cranio-faciale de Crouzon Dysostose, kraniofaziale, Typ Crouzon Dysostosis Craniofacialis Crouzon Crouzon disease Crouzon-Syndrom Doença de Crouzon Enfermedad de Crouzon Maladie de Crouzon Malattia di Crouzon hrdo:pat_id_2440 130950 C536407 2672 C1851708 malformation syndrome Encefalopatia recorrente infantil Encefalopatia ricorrente infantile Encéphalopathie récurrente infantile Enzephalopathie, rekurrente infantile Recurrent encephalophathy of childhood Neuhauser-Eichner-Opitz syndrome Neuhauser-Eichner-Opitz-Syndrom Sindrome di Neuhauser-Eichner-Opitz Syndrome de Neuhauser-Eichner-Opitz Síndrome de Neuhauser-Eichner-Opitz Síndrome de Neuhauser-Eichner-Opitz hrdo:pat_id_2441 256690 C537388 neant Q87.8 2673 C0796088 malformation syndrome Freire Maia-Pinheiro-Opitz syndrome Freire-Maia-Pinheiro-Opitz -Syndrom Freire-Maia-Pinheiro-Opitz, síndrome de Sindrome di Freire-Maia-Pinheiro-Opitz Syndrome de Freire Maia-Pinheiro-Opitz Síndrome de Freire-Maia-Pinheiro-Opitz Síndrome de Freire-Maia-Pinheiro-Opitz Neuro-fazio-digito-renales Syndrom Neurofaciodigitorenal syndrome Sindrome neuro-facio-digito-renale Syndrome neuro-facio-digito-rénal Síndrome neuro-facio-digito-renal Síndrome neuro-facio-digito-renal hrdo:pat_id_2442 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 123853 C536229 neant Q87.8 2674 C1852396 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cyprus facial-neuromusculoskeletal syndrome Fazio-neuro-muskulo-skelettales Syndrom, zyprischer Typ Sindrome neuro-muscolo-scheletrica, tipo Cipriota Syndrome neuro-musculo-squelettique type chypriote Síndrome facio-neuro-musculo-esquelético de Chipre Síndrome neuro-musculo-esquelético, tipo chipriota hrdo:pat_id_2443 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance C537386 2675 C2931479 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Maccario-Mena syndrome Maccario-Mena, síndrome de Maccario-Mena-Syndrom Sindrome di Maccario-Mena Syndrome de Maccario-Mena Síndrome de Maccario Mena Síndrome de Maccario-Mena Distrofia neuroassonale - acidosi tubulare Distrofia neuroaxonal - acidose tubular renal Distrofia neuroaxonal - acidosis tubular Dystrophie neuroaxonale - acidose tubulaire Dystrophie, neuroaxonale - tubuläre Azidose Neuroaxonal dystrophy - renal tubular acidosis hrdo:pat_id_2445 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q87.8 2676 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Oerter-Friedman-Anderson syndrome Oerter-Friedman-Anderson, síndrome de Oerter-Friedman-Anderson-Syndrom Sindrome di Oerter-Friedman-Anderson Syndrome d'Oerter-Friedman-Anderson Síndrome de Oerter-Friedman-Anderson Neuroectodermal-endocrine syndrome Neuroektodermales endokrines Syndrom Sindrome neuroectodermica endocrina Syndrome neuroectodermique endocrine Síndrome neuroectodérmico endócrino Síndrome neuroectodérmico-endocrino hrdo:pat_id_2446 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 114030 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=multiple+cafe+au+lait%5Bti%5D+OR+%28inherited%5Bti%5D+cafe+au+lait%5Bti%5D%29+OR+%28familial%5Bti%5D+cafe+au+lait%5Bti%5D%29 L81.3 2678 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Café-au-lait spots syndrome Café-au-lait-Flecken-Syndrom Maladie des taches café-au-lait Manchas 'café com leite', síndrome de NF6 NF6 NF6 NF6 NF6 Sindrome delle macchie caffè-latte Síndrome de manchas 'café com leite' Síndrome de manchas café con leche Neurofibromatose Typ 6 Neurofibromatose tipo 6 Neurofibromatose type 6 Neurofibromatosi, tipo 6 Neurofibromatosis tipo 6 Neurofibromatosis type 6 hrdo:pat_id_2447 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Infantile%5Bti%5D+axonal+neuropath*%5Btw%5D+NOT+%28Spinocerebellar+Degenerations+OR+giant+axonal%29 G60.8 2679 disease Infantile axonal neuropathy Neuropathie axonale infantile Neuropathie, axonale infantile Neuropatia assonale infantile Neuropatia axonal do lactente Neuropatía axonal infantil hrdo:pat_id_2452 neant D82.8 2690 disease Neutropenia - monocitopenia - sordità Neutropenia - monocitopenia - surdez Neutropenia - monocytopenia - deafness Neutropenia monocitopenia sordera Neutropenie - Monozytopenie - Schwerhörigkeit Neutropénie - monocytopénie - surdité hrdo:pat_id_2453 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601451 C536113 neant Q87.3 2691 C2936777 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cerebral gigantism, Nevo type Gigantisme cérébral type Nevo Gigantismo cerebral tipo Nevo Gigantismo cerebrale, tipo Nevo Zerebraler Gigantismus Typ Nevo Nevo syndrome Nevo-Syndrom Sindrome di Nevo Syndrome de Nevo Síndrome de Nevo Síndrome de Nevo hrdo:pat_id_2456 neant 2694 disease Epidermal nevus - vitamin D resistant rickets Naevus, epidermaler, mit Vitamin D-resistenter Rachitis Nevo epidermico - rachitismo resistente alle vitamine Nevo epidérmico - raquitismo vitamina D-resistente Nevus epidérmico - raquitismo vitamino resistente Nevus épidermique - rachitisme vitamino-résistant hrdo:pat_id_2457 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 109740 210400 C535441 neant Q30.2 2695 204521002 C0221363 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Bifid nose Nariz bífida Nariz bífido Nase, bifide Naso bifido Nez bifide hrdo:pat_id_2459 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 208085 613404 C535382 neant Q89.7 2697 C1859722 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ARC syndrome ARC, síndrome Sindrome ARC Syndrome ARC Síndrome ARC Síndrome ARC Arthrogrypose - Nierenfunktionsstörung - Cholestase Arthrogrypose - insuffisance rénale - cholestase Arthrogryposis - renal dysfunction - cholestasis Artrogripose - nefropatia - colestase Artrogriposi - disfunzione renale - colestasi Artrogriposis - disfunción renal - colestasis hrdo:pat_id_246 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 115470 C535918 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28cat+eye%5Bti%5D+OR+cat%27s+eye%5Bti%5D%29+syndrome+OR+%28anal+atresia%5Bti%5D+AND+%28coloboma%5Bti%5D+OR+eye+anomalies%5Bti%5D%29%29 Q92.8 195 26445008 C0265493 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 'Olho de Gato', síndrome Cat-Eye-Syndrom Chromosome 22 inversion/duplication Coloboma ocular - ânus imperfurado Colobome oculaire - anus imperforé Inversion/duplication du chromosome 22 Iriskolobom - Analatresie Ocular coloboma - imperforate anus Schmid-Fraccaro-Syndrom Syndrome des yeux de chat Síndrome 'Olho de Gato' Cat-eye syndrome Katzenaugensyndrom Sindrome ''Cat-eye'' Syndrome du Cat-eye Síndrome "cat-eye" Síndrome de 'Cat eye' hrdo:pat_id_2460 149200 neant Q82.8 2698 disease Bart-Pumphrey syndrome Bart-Pumphrey, síndrome de Bart-Pumphrey-Syndrom Knuckle pads-leuconychia-sensorineural deafness-palmoplantar keratoderma syndrome Sindrome di Bart-Pumphrey Sindrome nodosità callose-leuconichia-sordità neurosensoriale-cheratoderma palmoplantare Syndrome de Bart-Pumphrey Syndrome de nodosités calleuses-leuconychie-surdité-kératodermie palmoplantaire Síndrome de Bart-Pumphrey Síndrome de Bart-Pumphrey Síndrome de nódulos callosos - leuconiquia - sordera neurosensorial - queratodermia palmoplantar Almofadas articulares - leuconiquia - surdez neuro-sensorial Knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome Knuckle-Pads - Leukonychie - sensorineurale Schwerhörigkeit Sindrome nodosità callose-leuconichia-sordità neurosensoriale-ipercheratosi palmoplantare Syndrome de nodosités calleuses-leuconychie-surdité-hyperkératose palmoplantaire Síndrome de nódulos callosos - leuconiquia - sordera neurosensorial - hiperqueratosis palmoplantar hrdo:pat_id_2461 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 151630 neant Q18.8 2699 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Median nodule of the upper lip Medianes Knötchen der Oberlippe Nodule de la lèvre supérieure Nodulo del labbro superiore Nódulo mediano del labio superior Nódulo mediano do lábio superior hrdo:pat_id_2462 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 607721 neant Q87.1 2701 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Noonan-like syndrome with loose anagen hair Noonan-ähnliches Syndrom mit losem Anagenhaar Sindrome Noonan-simile con capelli caduci in fase anagen Syndrome Noonan-like avec cheveux anagènes caducs Síndrome Noonan-like Síndrome de Noonan-like con cabello anágeno caduco hrdo:pat_id_2464 2703 malformation syndrome Mancha en vino de Oporto - megacisterna magna - hidrocefalia NOVA-Syndrom Nevo a macchia di "vino Porto" - mega cisterna magna - idrocefalo Nevus tache de vin - citerne cérébello-médullaire élargie - hydrocéphalie Nova syndrome Nova, síndrome de Síndrome de Nova Nevo vinho do Porto - mega cisterna magna - hidrocefalia Port-wine nevi - mega cisterna magna - hydrocephalus Portweinnaevus - Megacisterna magna - Hydrozephalus Sindrome di Nova Syndrome de Nova Síndrome de Nova hrdo:pat_id_2465 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 236730 615112 C536480 neant 2704 236533008 C0403555 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hidronefrose - expressão facial peculiar Hydronephrose - charakteristischer Gesichtsausdruck Hydronephrosis - inverted smile Hydronéphrose - sourire inversé Idronefrosi - sorriso invertito Inverted smile - neurogenic bladder Invertiertes Lächeln - okkulte neuropathische Blase Paralisi facciale parziale associata a anomalie urinarie Paralisia facial parcial com anomalias urinárias Paralysie faciale partielle - anomalies urinaires Partial facial palsy with urinary abnormalities Partielle Gesichtslähmung mit Anomalie der Harnwege Parálisis facial parcial con anomalías del tracto urinario Sindrome urofacciale Sonrisa invertida - vejiga neurógena Sorriso invertido - bexiga nefropática oculta Sorriso invertito - vescica nefropatica occulta Sourire inversé - vessie neurologique Syndrome uro-facial Síndrome de Uro-facial Síndrome urofacial Uro-facial, síndrome de Urofacial syndrome Urofaziales Syndrom Ochoa syndrome Ochoa-Syndrom Sindrome di Ochoa Syndrome d'Ochoa Síndrome de Ochoa Síndrome de Ochoa hrdo:pat_id_2466 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=aplasia+optic+nerve+microphthalmos+cryptophthalmus 2705 malformation syndrome Behrens-Baumann-Vogel syndrome Behrens-Baumann-Vogel, síndrome de Behrens-Baumann-Vogel-Syndrom Microftalmia - aplasia del nervo ottico Microftalmia - aplasia do nervo óptico Microftalmia - aplasia do nervo ótico Microphtalmie - aplasie optique Microphthalmia - optic nerve aplasia Mikrophthalmie - Aplasie der Sehnerven Sindrome di Behrens-Baumann-Vogel Syndrome de Behrens-Baumann-Vogel Síndrome de Behrens-Baumann-Dust Síndrome de Behrens-Baumann-Vogel Displasia oculo-cerebral Displasia oculocerebrale Dysplasie oculo-cérébrale Dysplasie, okulo-zerebrale Oculo cerebral displasia Oculocerebral dysplasia hrdo:pat_id_2467 2706 malformation syndrome Oculo-cerebro-acral syndrome Okulo-zerebro-akrales Syndrom Sindrome oculo-cerebro-acrale Syndrome oculo-cérébro-acral Síndrome oculo-cerebro-acral Síndrome óculo-cerebro-acral hrdo:pat_id_2468 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 244450 C537013 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Kaufman+oculocerebrofacial+syndrome Q87.0 2707 C1855663 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Kaufman-Syndrom Oculocerebrofacial syndrome, Kaufman type Okulo-zerebro-faziales Syndrom, Typ Kaufman Sindrome oculo-cerebro-facciale, tipo Kaufman Syndrome oculo-cérébro-facial type Kaufman Síndrome oculo-cerebro-facial de Kaufman Síndrome óculo-cerebro-facial, tipo Kaufman hrdo:pat_id_2469 2708 malformation syndrome Plum syndrome Plum, síndrome de Plum-Syndrom Sindrome di Plum Syndrome de Plum Síndrome de Plum Síndrome de Plum Oculo-cerebro-osseous syndrome Okulo-zerebro-ossäres Syndrom Sindrome oculo-cerebro-ossea Syndrome oculo-cérébro-osseux Síndrome oculo-cerebro-ósseo Síndrome óculo-cerebro-óseo hrdo:pat_id_2470 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 180900 C537732 Q87.8 2709 C0796140 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Gingivahypertrophie, Hornhautdystrophie Gingival hypertrophy - corneal dystrophy Hipertrofia gengival - distrofia da córnea Hipertrofia gingival - distrofia corneal Hypertrophie gingivale - dystrophie cornéenne Ipertrofia gengivale - distrofia corneale Rutherfurd syndrome Rutherfurd, síndrome de Rutherfurd-Syndrom Sindrome di Rutherfurd Syndrome de Rutherfurd Síndrome de Rutherfurd Síndrome de Rutherfurd Oculodental syndrome, Rutherfurd type Okulo-dentales Syndrom Typ Rutherfurd Sindrome oculo-dentale, tipo Rutherfurd Syndrome oculo-dentaire de Rutherfurd Síndrome oculo-dental Síndrome óculo-dental, tipo Rutherfurd hrdo:pat_id_2471 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 164200 257850 10063691 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28oculodentodigital+OR+oculodentoosseous+OR+oculodento+osseous%29+dysplasia%5Bti%5D+NOT+recessive Q87.8 2710 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia oculo-dento-digital dominante Displasia oculo-dento-ossea Displasia oculodentoósea Dysplasie oculo-dento-osseuse Dysplasie, okulo-dento-ossäre Meyer-Schwickerath syndrome Meyer-Schwickerath-Syndrom ODDD syndrome ODDD-Syndrom Oculodentoosseous dysplasia Sindrome ODDD Syndrome de Meyer-Schwickerath Síndrome ODD Síndrome de Meyer-Schwickerath Displasia oculo-dento-digitale Displasia oculo-dento-óssea dominante Displasia oculodentodigital Dysplasie oculo-dento-digitale Dysplasie, okulo-dento-digitale Oculodentodigital dysplasia hrdo:pat_id_2473 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300166 C537465 C537735 neant Q87.8 2712 C1846265 C2931601 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cataract - microphthalmia - radiculomegaly - septal heart defect Cataracte - microphtalmie - radiculomégalie - défaut du septum cardiaque Cataratta - microftalmia - radiculomegalia - difetto del setto cardiaco Katarakt - Mikrophthalmie - Radikulomegalie - Herzseptumdefekt MCOPS2 MCOPS2 MCOPS2 Microftalmia sindromica, tipo 2 Microftalmia sindrómica tipo 2 Mikrophthalmie, syndromale, Typ 2 OFCD syndrome OFCD-Syndrom Sindrome OFCD Syndrome OFCD Síndrome de OFCD Oculofaciocardiodental syndrome Okulo-fazio-kardio-dentales Syndrom Sindrome oculo-facio-cardio-dentale Syndrome oculo-facio-cardio-dentaire Síndrome oculo-facio-cardio-dental Síndrome óculo-facial cardio-dental hrdo:pat_id_2474 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 211370 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Tuomaala+Haapanen 2713 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Brachymetapodie - Anodontie - Hypotrichose - Albinismus Braquimetapodia - anodontia - hipotricose - albinismo Oculoosteocutaneous syndrome Okulo-osteo-kutanes Syndrom Sindrome oculo-osteo-cutanea Syndrome oculo-ostéo-cutané Síndrome oculo-osteo-cutáneo hrdo:pat_id_2475 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 257910 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Oculopalatocerebral+OR+%28Oculo+palato+cerebral%5Btw%5D%29 Q87.8 2714 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Kleinwuchs, okulo-palato-zerebraler Nanisme oculo-palato-cérébral Nanismo oculo-palato-cerebrale Oculo-palato-cerebral dwarfism Nanismo oculo-palato-cerebral Oculo-palato-cerebral syndrome Okulo-palato-zerebrales Syndrom Sindrome oculo-palato-cerebrale Syndrome oculo-palato-cérébral Síndrome oculopalatocerebral hrdo:pat_id_2476 257970 2715 malformation syndrome Hunter-Jurenka-Thompson syndrome Hunter-Jurenka-Thompson, síndrome de Hunter-Jurenka-Thompson-Syndrom Sindrome di Hunter-Jurenka-Thompson Syndrome de Hunter-Jurenka-Thompson Síndrome de Hunter-Jurenka-Thompson Síndrome de Hunter-Jurenka-Thompson Oculo-reno-cerebellar syndrome Okulo-reno-zerebelläres Syndrom Sindrome oculo-reno-cerebellare Syndrome oculo-réno-cérébelleux Síndrome oculo-reno-cerebelar Síndrome óculo-reno-cerebeloso hrdo:pat_id_2477 2716 malformation syndrome Oculo-skeletal-renal syndrome Okulo-skeleto-renales Syndrom Sindrome oculo-scheletro-renale Syndrome oculo-squeletto-rénal Síndrome oculo-esqueleto-renal Síndrome oculo-osseo-renal hrdo:pat_id_2478 248450 neant Q87.8 2717 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome MOTA syndrome MOTA-Syndrom Manitoba oculotrichoanal syndrome Manitoba-okulo-tricho-anales Symdrom Marles syndrome Marles-Greenberg-Persaud syndrome Marles-Greenberg-Persaud, síndrome de Marles-Greenberg-Persaud-Syndrom Marles-Syndrom Sindrome MOTA Sindrome di Marles Sindrome di Marles-Greenberg-Persaud Sindrome oculo-trico-anale di Manitoba Syndrome MOTA Syndrome de Marles Síndrome MOTA Síndrome de Marles Síndrome de Marles-Greenberg-Persaud Síndrome de Marles-Greenberg-Persaud Síndrome óculo-trico-anal de Manitoba Oculotrichoanal syndrome Okulo-tricho-anales Syndrom Sindrome oculo-trico-anale Syndrome oculo-tricho-anal Síndrome oculo-trico-anal Síndrome óculo-trico-anal hrdo:pat_id_2479 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 257960 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Oculotrichodysplasia%5BAll+Fields%5D 2718 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cecato de Lima-Pinheiro syndrome Cecato-de-Lima-Pinheiro-Syndrom Cecatto de Lima-Pinheiro, síndrome de Sindrome di Cecato de Lima-Pinheiro Syndrome de Cecato de Lima-Pinheiro Síndrome de Cecato de Lima-Pinheiro Síndrome de Cecatto de Lima-Pinheiro Oculo trico displasia Oculo-tricho-dysplasie Oculo-trico-displasia Oculo-tricodisplasia Oculotrichodysplasia Okulo-tricho-Dysplasie hrdo:pat_id_2480 257800 E70.3 2719 malformation syndrome Cross syndrome Cross, síndrome de Cross-McKusick-Breen-Syndrom Hypopigmentation - syndrome oculocérébral type Cross Sindrome di Cross Syndrome de Cross Síndrome de Cross Síndrome de Cross Síndrome hipopigmentación - oculocerebral, tipo Cross Hypopigmentation, okulozerebrale, Typ Cross Oculocerebral hypopigmentation syndrome, Cross type Sindrome oculo-cerebrale-ipopigmentazione, tipo Cross Syndrome oculocérébral-hypopigmentation, type Cross Síndrome hipopigmentação oculo-cerebral tipo Cross Síndrome oculocerebral - hipopigmentación, tipo Cross hrdo:pat_id_2481 257790 C537866 2720 C2931646 malformation syndrome Hypopigmentation - syndrome oculocérébral type Preus Hypopigmentation, okulozerebrale, Typ Preus Oculocerebral hypopigmentation syndrome, Preus type Sindrome oculo-cerebrale-ipopigmentazione, tipo Preus Syndrome oculocérébral-hypopigmentation, type Preus Síndrome hipopigmentação oculo-cerebral tipo Preus Síndrome oculocerebral-hipopigmentación, tipo Preus hrdo:pat_id_2482 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 257980 C537742 neant Q82.4 2721 403762003 C1275074 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 DOOD OODD OODD OODD OODD Displasia odonto-onico-dermica Displasia odonto-onico-dérmica Displasia ondonto-onico-cutânea Dysplasie odonto-onycho-dermique Dysplasie, odonto-onycho-dermale Odonto-onycho-dermal dysplasia hrdo:pat_id_2483 2722 malformation syndrome Displasia odonto-onico con alopecia Displasia odonto-ungeal com alopecia Odonto-Onycho-Dysplasie mit Alopezie Odonto-onico-displasia con alopecia Odonto-onycho dysplasia - alopecia Odonto-onycho-dysplasie - alopécie hrdo:pat_id_2484 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 273400 2723 239028001 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Freire-Maia syndrome Freire-Maia-Syndrom Odonto-trico-mélico de Freire-Maia, síndrome Sindrome di Freire-Maia Syndrome de Freire-Maia Síndrome de Freire-Maia Síndrome odonto-trico-mélico de Freire-Maia Displasia odonto-trico-mélica hipohidrótica Displasia odonto-tricomelica-ipoidrotica Displasia odonto-tricomélica-hipohidrótica Odonto-trichomelisches Syndrom Odontotrichomelic syndrome Syndrome odontotrichomélique hrdo:pat_id_2485 164330 2724 malformation syndrome Bader, síndrome de Boder syndrome Boder-Syndrom Sindrome di Boder Syndrome de Boder Síndrome de Bader Síndrome de Boder Odontomatose - Aorten- und Ösophagusstenose Odontomatose - aorte - sténose oesophagienne Odontomatose - estenose da aorta e esófago Odontomatosi - stenosi dell'aorta e dell'esofago Odontomatosis - aortae esophagus stenosis Odontomatosis aórtica y esofágica - estenosis hrdo:pat_id_2486 609465 neant 2725 malformation syndrome Al Gazali-Al Talabani syndrome Al Gazali-Al Talabani, síndrome de Al-Gazali-al-Talabani-Syndrom Sindrome di Al Gazali-Lytle Syndrome d'al Gazali-Lytle Síndrome de Al Gazali-Al Talabani Síndrome de Al Gazali-Lytle al Gazali-Lytle syndrome Anomalias oculares - aracnodactilia - cardiopatia Anomalie de l'oeil - arachnodactylie - cardiopathie Anomalie oculari - aracnodattilia - cardiopatia Anomalía ocular - aracnodactilia - cardiopatía Augendefekte - Arachnodaktylie - Kardiopathie Eye defects - arachnodactyly - cardiopathy hrdo:pat_id_2489 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 249620 2728 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 BMRS type Ohdo BMRS, Ohdo type Blefarofimose tipo Ohdo, síndrome de Blepharophimose-Syndrom, Typ Ohdo Blepharophimosis syndrome, Ohdo type Blepharophimosis-intellectual deficit syndrome, Say-Barber/ Biesecker/Young-Simpson type Blépharophimosis type Ohdo Ohdo syndrome Ohdo-Madokoro-Sonoda syndrome Ohdo-Madokoro-Sonoda-Syndrom Ohdo-Syndrom Sindrome di Ohdo Sindrome di Ohdo-Madokoro-Sonoda Syndrome d'Ohdo Syndrome de blépharophimosis-déficit intéllectuel type Say-Barber/ Biesecker/Young-Simpson Síndrome de blefarofimose tipo Ohdo Síndrome de blefarofimosis, tipo Ohdo Blepharophimosis-intellectual deficit syndrome, Ohdo type Ohdo-Blepharophimose-Syndrom Sindrome da blefarofimosi, tipo Ohdo Syndrome de blépharophimosis-déficit intéllectuel type Ohdo Síndrome de Ohdo blefarofimosis Síndrome de Ohdo-Madokoro-Sonoda hrdo:pat_id_249 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 214500 D002609 10008415 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%22chediak-higashi+syndrome%22%5BTw%5D+NOT+Medline%5BSB%5D%29+OR+%22chediak-higashi+syndrome%22%5BMH%5D E70.3 167 111396008 C0007965 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Chediak-Higashi syndrome Chediak-Higashi-Syndrom Sindrome di Chediak-Higashi Syndrome de Chediak-Higashi Síndrome de Chediak-Higashi Síndrome de Chediak-Higashi hrdo:pat_id_2490 176240 neant Q73.8 2730 malformation syndrome Oligodactilia postaxial tetramélica Oligodactilia pós-axial tetramélica Oligodactylie postaxiale tétramélique Oligodaktylie, tetramelische postaxiale Oligodattilia postassiale - tetramelica Postaxial tetramelic oligodactyly hrdo:pat_id_2491 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 272980 C536945 2731 C1848909 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Oligodoncia - taurodoncia - cabello escaso Oligodontie - taurodontie - cheveux rares Oligodonzia - taurodonzia - capelli radi Taurodontia - absent teeth - sparse hair Taurodontia - anodontia - cabelo rarefeito Taurodontie - fehlende Zähne - spärliches Haar hrdo:pat_id_2492 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 2732 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Atrofia olivo ponto cerebelosa sordera Atrofia olivo-ponto-cerebellare - sordità Atrofia olivo-ponto-cerebelosa - surdez Atrophie olivo-ponto-cérébelleuse - surdité Olivopontocerebellar atrophy - deafness Olivopontozerebelläre Atrophie - Schwerhörigkeit hrdo:pat_id_2493 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Omodysplasia Q78.8 2733 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Omodisplasia Omodisplasia Omodisplasia Omodysplasia Omodysplasie Omodysplasie hrdo:pat_id_2496 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 258320 C537747 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Omphalocele%5Bti%5D+cleft+palate+lethal Q87.8 2736 C1850317 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Czeizel syndrome Czeizel, síndrome de Czeizel-Syndrom Sindrome di Czeizel Syndrome de Czeizel Síndrome de Czeizel Síndrome de Czeizel Lethal omphalocele-cleft palate syndrome Omphalozele-Gaumenspalte-Syndrom, letales Sindrome letale onfalocele-labiopalatoschisi Syndrome létal d'omphalocèle-fente palatine Síndrome letal onfalocele fisura palatina Síndrome onfalocelo - fenda do palato (letal) hrdo:pat_id_2497 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 209880 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=congenit*%5Bti%5D+central%5Bti%5D(sleep+apn*%5BTi%5D+OR+hypovent*%5Bti%5D)+OR+Ondine%5Bti%5D+OR+ondine's%5Bti%5D+OR+sleep+apnea,+central%2Fcn%5Bmajr%5D G47.3 661 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CCHS CCHS CCHS CCHS CCHS Central congenital hypoventilation syndrome Congenital central alveolar hypoventilation syndrome Hipoventilação alveolar central congénita Hypoventilation, alveoläre kongenitale Kongenitales zentrales Hypoventilationssyndrom Maldición de Ondine Maledizione di Ondine Ondine curse Sindrome congenita da ipoventilazione alveolare centrale Sindrome congenita da ipoventilazione centrale Syndrome d'hypoventilation alvéolaire centrale congénitale Syndrome d'hypoventilation centrale congénitale Síndrome de hipoventilación alveolar central congénita Síndrome de hipoventilación congénita central Undine-Syndrom Ondine syndrome Ondine-Syndrom Sindrome di Ondine Syndrome d'Ondine Síndrome de Ondine Síndrome de Ondine hrdo:pat_id_2499 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 258360 neant L98.8 2739 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Itin syndrome Itin, síndrome de Itin-Syndrom ONMR syndrome ONMR-Syndrom Sindrome di Itin Syndrome ONMR Syndrome d'Itin Síndrome de Itin Síndrome de Itin Trichothiodystrophie Typ G   Trichothiodystrophie type G Trichothiodystrophy type G Tricotiodistrofia tipo G Tricotiodistrofia tipo G Tricotiodistrofia, tipo G Onico-trico-displasia - neutropenia Onicotricodisplasia - neutropenia Onicotricodisplasia y neutropenia Onycho-Tricho-Dysplasie - Neutropenie Onycho-tricho-dysplasia - neutropenia Onycho-tricho-dysplasie - neutropénie hrdo:pat_id_2501 164900 Q87.8 2741 malformation syndrome OMM syndrome OMM-Syndrom Pillay syndrome Pillay, síndrome de Pillay-Syndrom Sindrome OMM Sindrome di Pillay Syndrome OMM Syndrome de Pillay Síndrome de Pillay Displasia oftalmo-mandibolo-melica Displasia oftalmo-mandibulo-mélica Displasia oftalmo-mandibulo-mélica Dysplasie ophtalmo-mandibulo-mélique Ophthalmo-mandibulo-mele Dysplasie Ophthalmomandibulomelic dysplasia hrdo:pat_id_2502 2742 disease Oftalmoplegia - mialgia - aggregati tubulari Oftalmoplegia - mialgia - cilindrúria Oftalmoplejia mialgias agregados tubulares Ophtalmoplégie - myalgie - agrégats tubulaires Ophthalmoplegia - myalgia - tubular aggregates Ophthalmoplegie - Myalgie - tubuläre Aggregate hrdo:pat_id_2503 165150 2743 malformation syndrome Levic-Stefanovic-Nicolic-Syndrom Levic-Stefanovic-Nikolic syndrome Levic-Stefanovic-Nikolic, síndrome de Sindrome di Levic-Stefanovic-Nikolic Syndrome de Levic-Stefanovic-Nikolic Síndrome de Levic-Stefanovic-Nikolic Oftalmoplegia - atraso mental - língua escrotal Oftalmoplegia - ritardo mentale - lingua scrotale Oftalmoplejia - déficit intelectual - lengua escrotal Ophtalmoplégie - déficit intellectuel - langue scrotale Ophthalmoplegia - intellectual deficit - lingua scrotalis Ophthalmoplegie - geistige Retardierung - Lingua scrotalis hrdo:pat_id_2506 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 311200 Q87.0 2750 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Esporádica Esporádico Ligado ao X dominante Sporadic Sporadic Sporadica Sporadique Sporadisch X-chromosomal-dominant X-linked dominant X-linked dominant malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown OFD1 OFD1 OFD1 OFD1 OFD1 OFDI OFDI OFDI OFDI OFDS1 OFDSI OFDSI OFDSI OFDSI Orofaciodigital syndrome type 1 Papillon-Leage-Psaume syndrome Papillon-Leage-Psaume-Syndrom Sindrome di Papillon-Leage-Psaume Sindrome orofaciodigitale, tipo 1 Syndrome de Papillon-Leage-Psaume Syndrome orofaciodigital de type 1 Síndrome de Papillon-Leage-Psaume Oral-facial-digital syndrome type 1 Oro-fazio-digitales Syndrom Typ 1 Sindrome oro-facio-digitale, tipo 1 Syndrome oro-facio-digital de type 1 Síndrome oro-facio-digital tipo 1 Síndrome orofaciodigital tipo 1 hrdo:pat_id_2507 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 252100 C538585 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Oral+facial+digital+syndrome+%28syndrome+ii%5Btw%5D+OR+type+2%5Btw%5D+OR+type+ii%5Btw%5D%29+OR+Mohr+syndro*%5Btw%5D+OR+mohr%27s+syndro*%5Btw%5D Q87.0 2751 1779005 C0026363 C2931889 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Mohr syndrome Mohr, síndrome de Mohr-Syndrom OFD2 OFD2 OFD2 OFD2 OFD2 Orofaciodigital syndrome type 2 Syndrome de Mohr Syndrome orofaciodigital de type 2 Síndrome de Mohr Síndrome de Mohr Síndrome orofaciodigital tipo 2 Oral-facial-digital syndrome type 2 Oro-fazio-digitales Syndrom Typ 2 Sindrome oro-facio-digitale, tipo 2 Syndrome oro-facio-digital de type 2 Síndrome oral-facial-digital tipo 2 Síndrome oro-facio-digital (OFD) tipo 2 hrdo:pat_id_2508 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 258850 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Oral+facial+digital+syndrome+%28type+3%5Btw%5D+OR+type+iii%5Btw%5D+OR+see+saw%5Btw%5D%29 Q87.0 2752 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 OFD3 OFD3 OFD3 OFD3 OFD3 Orofaciodigital syndrome type 3 Sindrome di Sugarman Sugarman syndrome Sugarman-Syndrom Syndrome de Sugarman Syndrome orofaciodigital de type 3 Síndrome de Sugarman Síndrome orofaciodigital tipo 3 Oral-facial-digital syndrome type 3 Oro-fazio-digitales Syndrom Typ 3 Sindrome oro-facio-digitale, tipo 3 Syndrome oro-facio-digital de type 3 Síndrome oral-facial-digital tipo 3 Síndrome oro-facio-digital tipo 3 hrdo:pat_id_2509 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 258860 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Oral+facial+digital+syndrome+%28type+4%5Btw%5D+OR+type+iv%5Btw%5D+OR+syndrome+iv%5Btw%5D+OR+tibia*%29+OR+%28Mohr%5Btw%5D+Majewski%5Btw%5D%29 Q87.0 2753 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Baraitser-Burn syndrome Baraitser-Burn-Syndrom OFD4 OFD4 OFD4 OFD4 Orofaciodigital syndrome type 4 Sindrome di Baraitser-Burn Syndrome de Baraitser-Burn Syndrome orofaciodigital type 4 Oral-facial-digital syndrome type 4 Oro-fazio-digitales Syndrom Typ 4 Sindrome oro-facio-digitale, tipo 4 Syndrome oro-facio-digital de type 4 Síndrome oro-facio-digital tipo 4 Síndrome orofaciodigital tipo 4 hrdo:pat_id_2510 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 277170 300804 614815 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Oral+facial+digital+syndrome+%28type+6%5Btw%5D+OR+type+vi%5Btw%5D%29+OR+%28varadi*%5Btw%5D+%28papp%5Btw%5D+OR+syndrome%29%29 Q04.3 Q87.0 2754 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown OFD6 OFD6 OFD6 OFD6 OFD6 Oral-facial-digital syndrome type 6 Oro-fazio-digitales Syndrom Typ 6 Orofaciodigital syndrome type 6 Polidactilia - fenda labio-palatina - atraso psicomotor Polidactilia - fisura labiopalatina - retraso psicomotor Polidattilia - labio/palatoschisi - ritardo psicomotorio Polydactylie - fente labio-palatine - retard psychomoteur Polydactyly - cleft lip/palate - psychomotor retardation Polydaktylie - Gaumenspalte - verspätete psychomotorische Entwicklung Sindrome di Varadi-Papp Sindrome di Váradi Sindrome orale-facciale-digitale, tipo 6 Sindrome oro-facio-digitale, tipo 6 Syndrome de Váradi Syndrome de Váradi-Papp Syndrome oro-facio-digital de type 6 Syndrome orofaciodigital de type 6 Síndrome de Varadi-Papp Síndrome de Varadi-Papp Síndrome de Váradi Síndrome orofaciodigital tipo 6 Varadi-Papp, síndrome de Varadi-Papp-Syndrom Váradi syndrome Váradi-Papp syndrome Váradi-Syndrom Joubert syndrome with orofaciodigital defect Joubert-Syndrom mit oro-fazio-digitalem Defekt Sindrome di Joubert con difetto oro-facio-digitale Syndrome de Joubert avec atteinte orofaciodigitale Síndrome de Joubert con defecto orofaciodigital Síndrome oro-facio-digital (OFD) tipo 6 hrdo:pat_id_2511 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300484 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Oral+facial+digital+syndrome+%28type+8%5Btw%5D+OR+type+viii%5Btw%5D+OR+hypoplas*+epiglottis%29+OR+3229001%5Bpmid%5D+OR+8281288%5Bpmid%5D Q87.0 2755 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Edwards-Syndrom OFD8 OFD8 OFD8 OFD8 Oral-facial-digital syndrome, Edwards type Oro-facio-digital com anomalias da retina, síndrome Orofaciodigital syndrome type 8 Sindrome di Edwards Syndrome oro-facio-digital d'Edwards Syndrome orofaciodigital type 8 Síndrome oro-facio-digital com anomalias da retina Oral-facial-digital syndrome type 8 Oro-fazio-digitales Syndrom Typ 8 Sindrome oro-facio-digitale, tipo 8 Syndrome oro-facio-digital type 8 Síndrome oro-facio-digital (OFD) tipo 8 Síndrome orofaciodigital tipo 8 hrdo:pat_id_2514 2759 malformation syndrome Seghers syndrome Seghers, síndrome de Seghers-Syndrom Sindrome di Seghers Syndrome de Seghers Síndrome de Seghers Síndrome de Seghers Imperforación orofaríngea - anomalías costo-vertebrales Imperforate oropharynx - costo vetebral anomalies Imperforation de l'oropharynx - anomalies costo-vertébrales Imperforazione dell'orofaringe - anomalie costo-vertebrali Orofaringe imperfurada - anomalias costo-vertebrais Oropharynx imperforatus - costovertebrale Fehlbildungen hrdo:pat_id_2515 165660 C537138 C41.9 2760 C1833792 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Osteosarcoma - anomalie degli arti - macrocitosi eritrocitaria Osteosarcoma - anomalías de los miembros - macrocitosis eritroide Osteosarcoma - limb anomalies - erythroid macrocytosis Osteossarcoma - anomalias dos membros - macrocitose eritróide Ostéosarcome - anomalies des membres - macrocytose érythroïde OSLAM syndrome OSLAM-Syndrom Sindrome OSLAM Syndrome OSLAM Síndrome OSLAM Síndrome de Oslam hrdo:pat_id_2516 166350 neant M61.5 2762 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Familial ectopic ossification Heteroplasia óssea progressiva Knochenheteroplasie, progressive Osificación ectópica familiar Ossification ectopique familiale Ossificazione ectopica familiare Ossifikation, ektopische, familiäre Form Eteroplasia ossea progressiva Heteroplasia ósea progresiva Hétéroplasie osseuse progressive Ossificação ectópica familiar Ossifikation, ektopische, familiärer Typ Progressive osseous heteroplasia hrdo:pat_id_2517 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 602361 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Osteocraniostenosis+OR+%28skeletal+dysplasia*+gracile+bones%29 Q78.0 2763 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia con huesos gráciles Displasia con ossa gracili Gracile bone dysplasia Grazile-Knochen-Dysplasie Osteocraniosplenic syndrome Osteokraniosplenisches Syndrom Sindrome osteo-cranio-splenica Syndrome des os graciles Syndrome ostéocraniosplénique Síndrome osteo-cráneo-esplénico Osteocraneoestenosis Osteocranioestenose Osteocraniostenosi Osteocraniostenosis Osteokraniostenose Ostéo-craniosténose hrdo:pat_id_2518 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 114620 C535572 neant Q87.3 2765 C0795905 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hypertrichotic osteochondrodysplasia Osteo-condrodisplasia hipertricótica Osteochondrodysplasie - Hypertrichose Osteocondrodisplasia hipertricosis Osteocondrodisplasia ipertricotica Ostéochondrodysplasie - hypertrichose hrdo:pat_id_252 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 200100 D000012 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22abetalipoproteinemia%22%5BMeSH+Terms%5D E78.6 14 190787008 C0000744 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acantocitose Akanthozytose Bassen-Kornzweig disease Bassen-Kornzweig, doença de Bassen-Kornzweig-Syndrom Doença de Bassen-Kornzweig Enfermedad de Bassen-Kornzweig Hipobetalipoproteinemia familiar homocigota Homozygous familial hypobetalipoproteinemia Hypobetalipoproteinnämie, familiäre homozygote Hypobêtalipoprotéinémie sévère précoce Ipobetalipoproteinemia familiare omozigote Maladie de Bassen-Kornzweig Malattia di Bassen-Kornzweig Abetalipoproteinemia Abetalipoproteinemia Abetalipoproteinemia Abetalipoproteinemia Abetalipoproteinämie Abêtalipoprotéinémie hrdo:pat_id_2520 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 127820 neant Q74.8 2767 389272007 C1300233 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Maroteaux-Le Merrer-Bensahel syndrome Maroteaux-le Merrer-Bensahel, síndrome de Maroteaux-le-Merrer-Bensahel-Syndrom Sindrome di Maroteaux-Le Merrer-Bensahel Syndrome de Maroteaux-Le Merrer-Bensahel Síndrome de Maroteaux-Le Merrer-Bensahel Síndrome de Maroteaux-le Merrer-Bensahel Carpotarsal osteochondromatosis Osteochondromatose, karpotarsale Osteocondromatose carpo-társica Osteocondromatosi carpotarsale Osteocondromatosis carpotarsiana Ostéochondromatose carpo-tarsienne hrdo:pat_id_2521 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 188700 259200 C536237 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Blount+disease%5Btw%5D+OR+tibia+vara%5Btw%5D M92.5 2768 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Blount-Barber-Syndrom Infantile tibia vara Osteochondrosis deformans tibiae Osteochondrosis deformans tibiae Osteocondrose deformante da tíbia Osteocondrosi deformante della tibia Osteocondrosis deformante de tibia Ostéochondrose déformante du tibia Tibia vara Blount Tibia vara Blount Tibia vara de Blount Tibia vara di Blount Tibia vara infantil Tibia vara infantile Tibia vara infantile Blount disease Blount-Syndrom Doença de Blount Enfermedad de Blount Maladie de Blount Malattia di Blount hrdo:pat_id_2522 259250 2769 malformation syndrome Familial osteodysplasia, Anderson type Osteodisplasia familiar tipo Anderson Osteodisplasia familiar, tipo Anderson Osteodisplasia familiare, tipo Anderson Osteodysplastie, familiäre, Typ Anderson Ostéodysplasie familiale type Anderson hrdo:pat_id_2523 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 221770 C536329 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28bone+cysts+OR+Polycystic+lipomembranous+osteodysplasia%29+%28sclerosing+leukoencephalopathy+OR+Dementia%29+OR+Nasu-Hakola%5Btw%5D E75.2 2770 C1857316 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Doença de Nasu-Hakola Malattia di Nasu-Hakola NHD NHD NHD Nasu-Hakola, doença de Nasu-Hakola-Krankheit Osteodisplasia poliquística lipomembranosa con leucoencefalopatía esclerosante Osteodisplasia poliquística lipomembranosa con leudoencefalopatía esclerosante Ostéodysplasie polykystique lipomembraneuse avec leucoencéphalopathie sclérosante PLO-SL PLO-SL PLO-SL PLOSL PLOSL Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy Enfermedad de Nasu-Hakola Maladie de Nasu-Hakola Nasu-Hakola disease Osteodisplasia lipomembranosa poliquística com leucoencefalopatia esclerosante Osteodisplasia policistica lipomembranosa - leucoencefalopatia sclerosante Osteodysplasie, lipomembranöse polyzystische - sklerosierende Leukoenzephalopathie hrdo:pat_id_2524 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 166300 2774 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Carnevale-Canun-Mendoza, síndrome de Idiopathic multicentric osteolysis with or without nephropathy Osteolisi multicentrica idiopatica con o senza nefropatia Osteolisis multicéntrica idiopática con o sin nefropatía Osteolyse, idiopathische multizentrische, mit oder ohne Nephropathie Ostéolyse multicentrique idiopathique avec ou sans néphropathie Síndrome de Carnevale-Canun-Mendoza Multicentric carpo-tarsal osteolysis with or without nephropathy Osteolisi capotarsale multicentrica con o senza nefropatia Osteolisis multicéntrica carpotarsal con o sin nefropatía Osteolyse, karpotarsale multizentrische, mit oder ohne Nephropathie Osteólise multicêntrica - nefropatia Ostéolyse carpo-tarsienne multicentrique avec ou sans néphropathie hrdo:pat_id_2525 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant 2775 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Osteolisi multicentrica Osteolyse, hereditäre multizentrische Osteolysis hereditary multicentric Osteólise multicêntrica hereditária Osteólisis multicéntrica Ostéolyse multicentrique Autosomal recessive carpotarsal osteolysis Osteolisi carpotarsale, autosomica recessiva Osteolyse, karpotarsale rezessive Osteólise carpo-társica, recessiva Osteólisis carpo tarsiana recesiva Ostéolyse carpotarsienne autosomique récessive hrdo:pat_id_2526 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 259610 2776 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Distal osteolysis - short stature - intellectual deficit Osteolyse, distale - Kleinwuchs - geistige Retardierung Ostéolyse distale - petite taille - déficit intellectuel Petit-Fryns syndrome Petit-Fryns, síndrome de Petit-Fryns-Syndrom Syndrome de Petit-Fryns Síndrome de Petit-Fryns Autosomal recessive distal osteolysis syndrome Osteolyse-Syndrom, distales, autosomal-rezessives Sindrome da osteolisi distale, autosomica recessiva Syndrome d'ostéolyse distale autosomique récessif Síndrome de osteolisis distal autosómica recesiva Síndrome osteólise recessiva hrdo:pat_id_2527 166450 neant Q78.2 2777 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Axial osteosclerosis Osteosclerose axial Osteosclerosi assiale Osteosclerosis axial Osteosklerose, axiale Ostéosclérose axiale Osteomesopicnose Osteomesopicnosi Osteomesopicnosis Osteomesopyknose Osteomesopyknosis Ostéomésopycnose hrdo:pat_id_2528 311280 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Osteopathia+striata+dermopathy Q77.8 2779 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant malformation syndrome Sindrome di Whyte-Murphy Syndrome de Whyte-Murphy Síndrome de White-Murphy Síndrome de Whyte-Murphy White-Murphy-Syndrom Whyte-Murphy syndrome Whyte-Murphy, síndrome de Osteopathia striata - Hyperpigmentierung - weiße Stirnlocke Osteopathia striata - pigmentary dermopathy - white forelock Osteopatia estriada - dermopatia pigmentar - madeixa branca Osteopatia striata - iperpigmentazione - ciocche di capelli bianchi Osteopatía estriada - hiperpigmentación - mechón blanco Ostéopathie striée - hyperpigmentation - mèche blanche hrdo:pat_id_2529 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300373 C536053 neant Q78.8 2780 254129003 C0432268 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hiperostose generalisada estriada Hyperostose généralisée striée Hyperostosis generalisata with striations Iperostosi generalizzata striata Robinow-Unger syndrome Syndrome de Robinow-Unger Osteopathia striata - cranial sclerosis Osteopathia striata - kraniale Sklerose Osteopatia estriada - esclerose craniana Osteopatia striata - sclerosi cranica Osteopatía estriada - esclerosis craneana Ostéopathie striée - sclérose crânienne hrdo:pat_id_253 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 118450 610205 D016738 10053870 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=alagille+syndrome+OR+alagille%5Bti%5D Q44.7 52 31742004 C0085280 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Alagille-Syndrom Alagille-Watson syndrome Arteriohepatic dysplasia Delezione 20p11.2 Displasia arterioepatica Displasia arteriohepática Dysplasie artério-hépatique Dysplasie, arteriohepatische Escassez de ductos biliares, forma sindrómica Ipoplasia dei dotti biliari, forma sindromica Paucité des voies biliaires syndromique Syndrome d'Alagille-Watsons Syndromic bile duct paucity Alagille syndrome Gallenganghypoplasie, syndromale Form Sindrome di Alagille Syndrome d'Alagille Síndrome de Alagille Síndrome de Alagille hrdo:pat_id_2530 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 259700 259710 259720 611490 615085 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Osteopetrosis+%28malignant%5Bti%5D+OR+recessive%5Bti%5D%29 Q78.2 667 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Infantile malignant osteopetrosis Osteopetrose, infantile maligne Osteopetrosi maligna infantile Osteopetrosis infantil maligna Ostéopétrose maligne infantile Autosomal recessive malignant osteopetrosis Osteopetrose maligna Osteopetrose, maligne, autosomal-rezessive Form Osteopetrosi maligna, autosomica recessiva Osteopetrosis maligna autosómica recesiva Ostéopétrose maligne autosomique récessive hrdo:pat_id_2532 Normal Normal Normal Normal Normal Normal Normale Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 607634 C536056 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Osteopetrosis+%5Bti%5D+dominant+%28type+1%5Btw%5D+OR+type+i%5Btw%5D+OR+Calvaria+OR+cranial+vault%5Btw%5D%29+NOT+Albers%5Btw%5D Q78.2 2783 C2931097 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Autosomal dominant osteopetrosis type 1 Osteopetrose autossómica dominante tipo 1 Osteopetrose, autosomal-dominante, Typ 1 Osteopetrosi autosomica dominante, tipo 1 Osteopetrosis dominante de tipo 1 Ostéopétrose autosomique dominante type 1 hrdo:pat_id_2533 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 166700 C537415 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Buschke+Ollendorff%5Btw%5D Q78.8 1306 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Dermatofibrose disseminada com osteopoiquilose Dermatofibrose lenticulaire disséminée avec ostéopoécilie Dermatofibrose, disseminierte, mit Osteopoikilose Dermatofibrosi disseminata con osteopoichilosi Dermatofibrosis lenticular diseminada con osteopoiquilia Disseminated dermatofibrosis with osteopoikilosis Osteopoiquilose Buschke-Ollendorff syndrome Buschke-Ollendorff-Syndrom Sindrome di Buschke-Ollendorff Syndrome de Buschke-Ollendorff Síndrome de Buschke-Ollendorff Síndrome de Buschke-Ollendorff hrdo:pat_id_2534 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601220 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=osteoporosis+oculocutaneous+hypopigmentation 2786 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hernandez-Fragoso syndrome Hernandez-Fragoso, síndrome de Hernandez-Fragoso-Syndrom OOCHS, síndrome de Oochs syndrome Oochs-Syndrom Sindrome OOCHS Sindrome di Hernandez-Fragoso Syndrome OOCHS Syndrome d'Hernandez-Fragoso Síndrome de Hernandez-Fragoso Síndrome de Hernandez-Fragoso Síndrome de OOCHS Osteoporose - okulokutane Hypopigmentierung Osteoporosi - ipopigmentazione oculocutanea Osteoporosis - hipopigmentación oculo-cutánea Osteoporosis-oculocutaneous-hypopigmentation syndrome Ostéoporose - hypopigmentation oculo-cutanée Síndrome osteoporose - hipopigmentação oculo-cutânea hrdo:pat_id_2535 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=osteoporosis+macrocephaly+mental+retardation+blindness 2787 malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Heide syndrome Heide, síndrome de Heide-Syndrom Sindrome di Heide Syndrome d'Heide Síndrome de Heide Síndrome de Heide Osteoporose - Makrozephalie - Blindheit - Gelenkinstabilität Osteoporose - macrocefalia - atraso mental - cegueira Osteoporosi - macrocefalia - cecità - iperlassità Osteoporosis - macrocefalia - ceguera - hiperlaxitud Osteoporosis - macrocephaly - blindness - joint hyperlaxity Ostéoporose - macrocéphalie - cécité - hyperlaxité articulaire hrdo:pat_id_2536 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 259770 C536063 10052452 neant Q87.5 2788 254112001 C0432252 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 OPPG OPPG Ocular form of osteogenesis imperfecta Ostéogenèse imparfaite, forme oculaire Osteoporose-Pseudoglioma-Syndrom Osteoporosi - pseudoglioma Osteoporosis - pseudoglioma Osteoporosis - pseudoglioma Ostéoporose - pseudogliome Síndrome osteoporose - pseudo-glioma hrdo:pat_id_2537 130720 neant Q87.5 2789 malformation syndrome Lehman syndrome Lehman-Syndrom Sindrome di Lehman Syndrom der lateralen Meningozele Syndrome de Lehman Síndrome de Lehman Lateral meningocele syndrome Osteosclerose - anomalias do sistema nervoso e das meninges Sindrome del meningocele laterale Syndrom der lateralen Meningozele Syndrome de méningocèle latéral Síndrome del meningocele lateral hrdo:pat_id_2538 144750 neant Q78.2 2790 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Endosteal hyperostosis, Worth type Hiperostose endosteal, tipo Worth Hyperostose endostéale type Worth Hyperostose, endosteale, Typ Worth Iperostosi endostale, tipo Worth Sindrome di Worth Syndrome de Worth Síndrome de Worth Síndrome de Worth Worth syndrome Worth, síndrome de Worth-Syndrom Autosomal dominant osteosclerosis, Worth type Osteosclerose autossómica dominante tipo Worth Osteosclerosis autosómica dominante, tipo Worth Osteosklerose, autosomal-dominante, Typ Worth Ostéosclérose autosomique dominante type Worth Otosclerosi autosomica dominante, tipo Worth hrdo:pat_id_2539 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 166750 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Otodental%5Bti%5D K00.2 2791 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia oto-dentária Displasia otodental Displasia otodentale Dysplasie oto-dentaire Dysplasie, oto-dentale Globodontia Globodontia Globodontie Globodontie Globodonzia Otodental dysplasia Oto-dentales Syndrom Otodental syndrome Sindrome otodentale Syndrome oto-dentaire Síndrome oto-dentário Síndrome otodental hrdo:pat_id_254 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 304050 D058540 10054935 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=aicardi%5BText+Word%5D+AND+%28%22syndrome%22%5BMeSH+Terms%5D+OR+syndrome%5BText+Word%5D%29+NOT+aicardi-goutieres%5BAll+Fields%5D Q04.0 50 80651009 C0175713 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Agenesia del corpo calloso - anomalie corioretiniche Agenesia do corpo caloso com anomalia corio-retiniana Agénésie du corps calleux - anomalie chorio-rétinienne Balkenagenesie mit chorioretinaler Anomalie Corpus callosum agenesis of with chorioretinal abnormality Aicardi syndrome Aicardi-Syndrom Sindrome di Aicardi Syndrome d'Aicardi Síndrome de Aicardi Síndrome de Aicardi hrdo:pat_id_2540 166780 Q87.0 2792 malformation syndrome Fara-Chlupackova syndrome Fara-Chlupackova, síndrome de Fara-Chlupácková-Syndrom OFC syndrome OFC-Syndrom Sindrome OFC Sindrome di Fara-Chlupackova Syndrome OFC Syndrome de Fara-Chlupackova Síndrome OFC Síndrome de Fara-Chlupackova Síndrome de Fara-Chlupackova Oto-fazio-zervikales Syndrom Otofaciocervical syndrome Sindrome oto-facio-cervicale Syndrome oto-facio-cervical Síndrome oto-facio-cervical Síndrome oto-facio-cervical hrdo:pat_id_2541 259780 Q87.5 2793 441944007 C2711794 malformation syndrome Oto-onycho-peroneal syndrome Oto-onycho-peroneales Syndrom Sindrome oto-onico-peroneale Syndrome oto-onycho-péronéal Síndrome oto-onico-peroneal Síndrome oto-onico-peroneal hrdo:pat_id_2542 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 167100 259100 614441 10051686 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Pachydermoperiostosis+OR+%28hypertrophic+osteoarthropathy%5Btw%5D+%28primary+OR+idiopathic%29%29+NOT+%28ae%5Bsh%5D+OR+ci%5Bsh%5D%29 M89.4 2796 88220006 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Osteoarthropathie, hypertrophe primäre Osteoartropatia hipertrófica primária ou idiopática Osteoartropatia ipertrofica primitiva o idiopatica PDP PDP PDP PDP Sindrome di Touraine-Solente-Gole Syndrome de Touraine-Solente-Gole Síndrome de Touraine-Solente-Gole Touraine-Solente-Gole syndrome Pachidermoperiostosi Pachydermoperiostose Pachydermoperiostosis Pachydermopériostose Paqui-dermoperiostose Paquidermoperiostosis hrdo:pat_id_2543 600176 2798 malformation syndrome Kuzniecky syndrome Kuzniecky, síndrome de Kuzniecky-Syndrom Sindrome di Kuzniecky Syndrome de Kuzniecky Síndrome de Kuzniecky Pachigiria - ritardo mentale - epilessia Pachygyria - intellectual deficit - epilepsy Pachygyrie - déficit intellectuel - épilepsie Pachygyrie mit mentaler Retardierung und Epilepsie Paquigiria - atraso mental - epilepsia Paquigiria - déficit intelectual - epilepsia hrdo:pat_id_2545 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 301310 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Anemia+sideroblastic+%28ataxia%5Bmh%5D+OR+abc7+OR+abcb7+OR+abc+7%5Btw%5D%29 D64.0 2802 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anemia sideroblastica con atassia legata all'X Anemia sideroblástica - ataxia espinocerebelosa Anemia sideroblástica ligada al X con ataxia Anämie, sideroachrestische, X-chromosomale - Ataxie Anémie sidéroblastique liée à l'X - ataxie X-linked sideroblastic anemia - ataxia hrdo:pat_id_2547 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 311450 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=W+syndrome%5Btitle/abstract%5D Q87.0 2804 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Pallister-W syndrome Pallister-W, síndrome Pallister-W-Syndrom Sindrome di Pallister W Syndrome de Pallister W Síndrome Pallister-W Síndrome de Pallister-W Sindrome W Syndrome W Síndrome W Síndrome W W syndrome W-Syndrom hrdo:pat_id_2548 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 167755 260370 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28pancreas%5Bti%5D+OR+pancreatic%5Bti%5D+OR+pancreas/ab%5Bmajr%5D+%29+%28agenes*%5Bti%5D+OR+aplasia%5Bti%5D+OR+Diabetes+Mellitus/cn%29 Q45.0 2805 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo morphological anomaly <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Agenesia congenita del pancreas Agenesia pancreática congénita Agenesia parcial del páncreas Agenesia parziale del pancreas Agénésie congénitale du pancréas Congenital pancreatic agenesis Partial agenesis of the pancreas Agenesia do pâncreas Agenesia pancreatica parziale Agenesia pancreática parcial Agénésie partielle du pancréas Pankreasagenesie, partielle Partial pancreatic agenesis hrdo:pat_id_2549 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 167750 C536376 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Annular+pancreas%5Btw%5D+pancrea*%5Bti%5D Q45.1 675 40315008 C0149955 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Annular pancreas Pancreas ad anello Pancréas annulaire Pankreas anularis Páncreas anular Pâncreas anular hrdo:pat_id_255 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 166600 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Albers%5Btitle/abstract%5D+AND+%28%22Osteopetrosis%22%5BMeSH+Terms%5D+OR+osteopetrosis%5Btitle/Abstract%5D%29 Q78.2 53 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Albers-Schönberg-Krankheit Osteopetrose autossómica dominante tipo 2 Osteopetrose, autosomal-dominante, Typ 2 Osteopetrosi autosomica dominante, tipo 2 Osteopetrosis autosomal dominant type 2 Ostéopétrose autosomique dominante type 2 Albers-Schönberg osteopetrosis Doença de Albers-Schonberg Osteopetrosi di Albers-Schönberg Osteopetrosis Albers-Schönberg Osteopetrosis de Albers-Schönberg Ostéopétrose d'Albers-Schönberg hrdo:pat_id_2550 260500 D020288 10008777 neant D33.0 2807 18021007 C0205770 disease Papilloma dei plessi coroidei Papilloma of choroid plexus Papillome des plexus choroïdes Papiloma de plexos coroideos Papiloma do plexo coroideu Plexuspapillom hrdo:pat_id_2551 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 245000 D010214 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=papillon+lefevre+disease%5Bmh%5D+OR+Papillon+Lefevre%5Btw%5D Q82.8 678 40158001 C0030360 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Cheratosi palmoplantare - periodontopatia Keratosis palmoplantar - periodontopathy Keratosis palmoplantaris - Periodontopathie Kératodermie palmoplantaire - périodontopathie PLS PLS Queratose palmo-plantar - periodontopatia Queratosis palmoplantar - periodontopatía Papillon-Lefèvre syndrome Papillon-Lefèvre-Syndrom Sindrome di Papillon-Lefèvre Syndrome de Papillon-Lefèvre Síndrome de Papillon-Lefevre Síndrome de Papillon-Lefèvre hrdo:pat_id_2552 150260 neant J38.0 2808 malformation syndrome Abduktorenlähmung, laryngeale Cuerdas vocales disfunción familiar Disfunção das cordas vocais tipo familiar Disgiunzione familiare delle corde vocali Dysjonction familiale des cordes vocales Familial vocal cord dysfunction Gerhardt syndrome Gerhardt, síndrome de Gerhardt-Syndrom Sindrome di Gerhardt Stimmbanddysfunktion, familiäre Syndrome de Gerhardt Síndrome de Gerhardt Síndrome de Gerhardt Kehlkopfmuskulatur, Lähmung der Laryngeal abductor paralysis Paralisi dei muscoli della laringe Paralysie des muscles du larynx Parálisis de músculos de laringe Parésia do abductor laríngeo hrdo:pat_id_2553 134200 G51.0 2809 disease Familial recurrent peripheral facial palsy Gesichtslähmung, periphere rekurrente, familiäre Form Paralisi facciale periferica ricorrente familiare Paralisia facial periférica recorrente Paralysie faciale périphérique récurrente familiale Parálisis facial periférica recurrente familiar hrdo:pat_id_2554 260530 2812 disease Hard-skin syndrome, Parana type Parana hard-skin-Syndrome Parana, síndrome da pele dura tipo Piel rígida síndrome de la tipo Parana Sindrome della cute rigida, tipo Parana Syndrome de la peau rigide type Parana Síndrome da pele dura tipo Parana Parana hard-skin syndrome Parana, síndrome de Parana-Syndrom Sindrome di Parana Syndrome de Parana Síndrome de pele dura de Parana hrdo:pat_id_2556 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 312910 2815 malformation syndrome Sindrome di Wells-Jankovic Syndrome de Wells-Jankovic Síndrome de Wells-Jankovic Síndrome de Wells-Jankovic Wells-Jankovic syndrome Wells-Jankovic, síndrome de Paraparesi spastica - sordità Paraparesia espástica - sordera Paraparésia espástica - surdez Paraparésie spastique - surdité Spastic paraparesis - deafness Spastische Paraparese - Schwerhörigkeit hrdo:pat_id_2557 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis 270710 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=paraplegia+%28brachydactyl*+OR+%28cone+shaped%29+OR+Fitzsimmons%5Bti%5D%29 G82.1 2823 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Fitzsimmons-Guilbert syndrome Fitzsimmons-Guilbert, síndrome de Fitzsimmons-Guilbert-Syndrom Sindrome di Fitzsimmons-Guilbert Syndrome de Fitzsimmons-Guilbert Síndrome de Fitzsimmons-Guilbert Síndrome de Fitzsimmons-Guilbert Paraplegia - brachidattilia - epifisi a cono Paraplegia - brachydactyly - cone-shaped epiphysis Paraplegia - braquidactilia - epífises cuneiformes Paraplegie - Brachydaktylie - Zapfenepiphysen Paraplejia - braquidactilia - epífisis en cono Paraplégie - brachydactylie - épiphyses en cône hrdo:pat_id_2558 182610 neant 2816 disease Diomedi-Bernardi-Placidi-Syndrom Paraplegia espástica - epilepsia - atraso mental Paraplejia espástica - epilepsia - déficit intelectual SPERM SPERM Sindrome di Diomedi-Bernardi-Placidi Paraplegia spastica - epilessia - ritardo mentale Paraplégie spastique - épilepsie - déficit intellectuel Spastic paraplegia - epilepsy - intellectual deficit Spastische Paraplegie - Epilepsie - geistige Retardierung Síndrome de Diomedi-Bernardi-Placidi Síndrome de Diomedi-Bernardi-Placidi hrdo:pat_id_2559 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 270850 2818 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Paraplegia spastica - glaucoma - ritardo mentale Paraplejia espástica - glaucoma - déficit intelectual Paraplégie spastique - glaucome - déficit intellectuel Paresia espástica - glaucoma - atraso mental Spastic paraplegia - glaucoma - intellectual deficit Spastische Paraplegie - Glaukom - Intelligenzminderung hrdo:pat_id_2560 2819 malformation syndrome Bahemuka-Bbrown-Syndrom Bahemuka-Brown syndrome Bahemuka-Brown, síndrome de Sindrome di Bahemuka-Brown Syndrome de Bahemuka-Brown Síndrome de Bahemuka-Brown Síndrome de Bahemuka-Brown Paraplegia espástica - lesões cutâneas da face Paraplegia spastica - lesioni cutanee facciali Paraplejia espástica - lesiones cutáneas faciales Paraplégie spastique - lésions cutanées faciales Spastic paraplegia - facial-cutaneous lesions Spastische Paraplegie - kutane Gesichtsläsionen hrdo:pat_id_2561 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis 182690 neant 2820 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Fitzsimmons-Walson-Mellor syndrome Fitzsimmons-Walson-Mellor, síndrome de Sindrome di Fitzsimmons-Walson-Mellor Syndrome de Fitzsimmons-Watson-Mellor Síndrome de Fitzsimmons-Walson-Mellor Síndrome de Fitzsimmons-Walson-Mellor Paraplegia espástica - nefrite - surdez Paraplegia spastica - nefropatia - sordità Paraplejia espástica - nefropatía - sordera Paraplégie spastique - néphropathie - surdité Spastic paraplegia - nephritis - deafness Spastische Paraplegie - Nephritis - Schwerhörigkeit hrdo:pat_id_2562 182815 C536870 2821 C1866851 disease Antinolo-Nieto-Borrego syndrome Antinolo-Nieto-Borrego, síndrome Antinolo-Nieto-Borrego-Syndrom Sindrome di Antinolo-Nieto-Borrego Syndrome d'Antinolo-Nieto-Borrego Síndrome Antinolo-Nieto-Borrego Síndrome de Antinolo-Nieto-Borrego Paraplegia espástica - neuropatia - poiquilodermia Paraplegia spastica - neuropatia - poichilodermia Paraplejia espástica - neuropatía - poiquilodermia Paraplégie spastique - neuropathie - poïkilodermie Spastic paraplegia - neuropathy - poikiloderma Spastische Paraplegie - Neuropathie - Poikilodermie hrdo:pat_id_2563 604360 C537483 C538335 neant G11.4 2822 C1858479 C2931821 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Nakamura-Osame syndrome Nakamura-Osame, síndrome de Nakamura-Osame-Syndrom Paraplegia spastica - ritardo mentale - corpo calloso sottile Paraplejia espástica - déficit intelectual - cuerpo calloso delgado Paraplégie spastique - déficit intellectuel - corps calleux fin SPG11 SPG11 SPG11 SPG11 SPG11 Sindrome di Nakamura-Osame Spastic paraplegia - intellectual deficit - thin corpus callosum Spastische Paraplegie - Intelligenzminderung - dünnes Corpus callosum Syndrome de Nakamura-Osame Síndrome de Nakamura-Osame Síndrome de Nakamura-Osame Autosomal recessive spastic paraplegia type 11 Paraplegia espástica - atraso mental - corpo caloso fino Paraplegia spastica, autosomica recessiva, tipo 11 Paraplejia espástica autosómica recesiva tipo 11 Paraplégie spastique autosomique récessive type 11 Spastische Paraplegie, autosomal-rezessive, Typ 11 hrdo:pat_id_2564 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 600331 C537174 neant Q87.8 2825 C1838256 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Poichilodermia - alopecia - retrognazia - palatoschisi Poikiloderma - alopecia - retrognathism - cleft palate Poikilodermie, Alopezie, Retrognathie, Gaumenspalte Poiquilodermia - alopecia - retrognatia - fenda do palato Poiquilodermia - alopecia - retrognatia - fisura palatina Poïkilodermie - alopécie - rétrognathisme - fente palatine PARC syndrome PARC-Syndrom Sindrome PARC Syndrome PARC Síndrome PARC Síndrome PARC hrdo:pat_id_2565 182820 C536874 2826 C1866850 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Paraplegia espástica - glaucoma - puberdade precoce Paresi spastica - glaucoma - pubertà precoce Paresia espástica - glaucoma - pubertad precoz Parésie spastique - puberté précoce Spastic paraplegia - precocious puberty Spastische Paraplegie - vorzeitige Pubertät hrdo:pat_id_2567 260555 C536299 2829 C1850075 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Partington-Anderson syndrome Partington-Anderson-Syndrom Sindrome di Partington-Anderson Syndrome de Partington-Anderson Síndrome de Partington Anderson Síndrome de Partington-Anderson hrdo:pat_id_2569 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 600269 neant Q87.2 2832 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Lopes-Gorlin syndrome Lopes-Gorlin, síndrome de Lopes-Gorlin-Syndrom Sindrome di Lopes-Gorlin Syndrome de Lopes-Gorlin Síndrome de Lopes-Gorlin Síndrome de Lopes-Gorlin Anomalia della palpebra superiore - assenza delle ciglia Párpado superior anormal - ausencia de pestañas Short tarsus - absence of lower eyelashes Tarses palpébraux courts - absence de cils inférieurs Tarso curto - ausência das pestanas inferiores Tarsus, kurzer - Fehlen der unteren Augenwimpern hrdo:pat_id_257 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 400042 415000 C536297 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%28deletion*%5Btw%5D+OR+microdeletion*%5Btw%5D%29+Y+chromosome%5BTi%5D%29+OR+%28chromosome+deletion%5BMH%5D+y+chromosome%5BMH%5D%29 Q98.6 1646 C1507149 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Esterilidad masculina por deleción del cromosoma Y Esterilidade masculina por delecções no cromossoma Y Esterilidade masculina por deleções no cromossoma Y Male sterility due to chromosome Y deletion Männliche Sterilität durch Chromosom Y-Deletion Sterilità maschile da delezione del cromosoma Y Stérilité masculine par délétion de l'Y Chromosom Y-Deletion, partielle Deleción parcial del cromosoma Y Delecções no cromossoma Y Delezione parziale del cromosoma Y Délétion partielle de l'Y Partial chromosome Y deletion hrdo:pat_id_2570 184900 228020 neant 2833 disease Induration der Haut und Faszie Moersch-Woltman-Syndrom Sindrome ''Stiff skin'' Stiff skin syndrome Stiff-skin-Syndrom Syndrome de la peau parcheminée Síndrome da pele rígida Síndrome de la piel apergaminada hrdo:pat_id_2571 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 278250 C536750 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Wrinkly+skin+syndrome%5Btw%5D Q82.8 2834 238875009 C0406587 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 WSS WSS WSS WSS Wrinkled skin syndrome 'Wrinkly skin'-Syndrom Sindrome della cute rugosa Syndrome de la peau ridée Síndrome da pele enrugada Síndrome de la piel arrugada Wrinkly skin syndrome hrdo:pat_id_2572 600399 2835 malformation syndrome Sindrome di Zori-Stalker-Williams Syndrome de Zori-Stalker-Williams Síndrome de Zori-Stalker-Williams Síndrome de Zori-Stalker-Williams Zori-Stalker-Williams syndrome Zori-Stalker-Williams, síndrome de Zori-Stalker-Williams-Syndrom Pectus escavatum - macrocefalia - displasia das unhas Pectus excavatum - Makrozephalie - Nageldysplasie Pectus excavatum - macrocefalia - displasia ungueal Pectus excavatum - macrocefalia - displasia ungueale Pectus excavatum - macrocephaly - dysplastic nails Pectus excavatum - macrocéphalie - dysplasie unguéale hrdo:pat_id_2573 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 260565 C536317 G31.8 2836 442511009 C0796122 C1850055 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Encefalopatia progressiva - atrofia ottica Encefalopatia progressiva - atrofia óptica Encefalopatia progressiva - atrofia ótica Encéphalopathie progressive - atrophie optique Enzephalopathie, progressive - Optikusatrophie Progressive encephalopathy - optic atrophy Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy PEHO syndrome PEHO-Syndrom Sindrome PEHO Syndrome PEHO Síndrome PEHO Síndrome PEHO hrdo:pat_id_2576 260650 neant E72.8 2837 disease Dermatite "Pellagre-like"- manifestations neurologiques Pelagra like síndrome Pellagra-like skin rash - neurological manifestations Pellagra-ähnliches-Syndrom Sindrome pellagra-simile Síndrome Pelagra-like hrdo:pat_id_2577 2838 malformation syndrome Dismorfia de pelvis-calicial - sordera Dismorfia dei pelvi-calici - sordità Divertículos renais caliciais - surdez Dysmorphie pelvi-calicielle - surdité Nierenkelchdivertikel - Taubheit Renal caliceal diverticuli - deafness hrdo:pat_id_2578 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 169550 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(scapuloiliac+OR+(pelvi*+(scapula%2Fab+OR+shoulder)))+(dysplasia%5Bti%5D+OR+dysostosis) Q87.5 2839 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Disostose escapulo-ilíaca Disostosi scapoloiliaca Dysostose scapulo-iliaque Dysostose, skapulo-iliakale Kosenow syndrome Kosenow-Syndrom Scapuloiliac dysostosis Syndrome de Kosenow Becken-Schulter-Dysplasie Displasia de hombro y pelvis Displasia escapulo-pélvica Displasia scapola-bacino Dysplasie de l'épaule et du pelvis Pelvis-shoulder dysplasia hrdo:pat_id_2579 602484 C535292 C535548 neant 2840 C1865294 C2930869 malformation syndrome Pelvisdysplasie - Arthrogrypose der unteren Extremitäten Ray-Peterson-Scott syndrome Ray-Peterson-Scott, síndrome de Ray-Peterson-Scott-Syndrom Sindrome di Ray-Peterson-Scott Syndrome de Ray-Peterson-Scott Síndrome de Ray-Peterson-Scott Síndrome de Ray-Peterson-Scott Displasia de la pelvis - pseudoartrogriposis de los miembros inferiores Displasia della pelvi - pseudoartrogriposi Displasia pélvica - artrogripose dos membros inferiores Dysplasie du pelvis - pseudo arthrogrypose Pelvic dysplasia - arthrogryposis of lower limbs Pelvis Dysplasie - Pseudoarthrogrypose hrdo:pat_id_258 Variabel Variabile Variable Variable Variable Variable Variável 181460 D012552 10039603 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=schistosomiasis%5Bti%5D+OR+schistosomiasis%5Bmajr%5D B65 1247 10087007 105661001 C0036323 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Bilharziose Bilharziosis Schistosomiasi Schistosomiasis Schistosomiasis Schistosomíase hrdo:pat_id_2580 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance C536650 10067287 neant Q55.8 2842 C1868854 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Esporádica Esporádico Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X Sporadic Sporadic Sporadica Sporadique Sporadisch X-chromosomal-rezessiv X-linked recessive X-linked recessive morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Penoescrotal transposición Penoscrotal transposition Penoskrotale Transposition Transposition pénoscrotale Transposição peno-escrotal Trasposizione penoscrotale hrdo:pat_id_2581 Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Pericardium/ab+pericard*%5Bti%5D+%28congenital%5Bti%5D+OR+heart+defects%2C+congenital%5Bmh%5D%29 Q24.8 2846 93018000 C0685699 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Anomalia congenita del pericardio Anomalia congénita do pericárdio Anomalie congénitale du péricarde Anomalía congénita del pericardio Congenital pericardium anomaly Perikardfehlbildungen, kongenitale hrdo:pat_id_2582 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 2847 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Perikard- und Zwerchfell-Defekt Anomalia de pericárdio - hérnia difragmática Anomalies du péricarde et du diaphragme Defecto pericárdico y diafragmático Difetto del pericardio e del diaframma Pericardial and diaphragmatic defect Perikarddefekt - Hernia diaphragmatica hrdo:pat_id_2583 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 208250 2848 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Arthropathie - camptodactylie Arthropathie-Kamptodaktylie-Syndrom Arthropathy-camptodactyly syndrome Artropatia - camptodactilia, síndrome CACP CACP syndrome CACP-Syndrom Jacobs syndrome Jacobs, síndrome de Jacobs-Syndrom Pericardite - artropatia - camptodattilia Pericarditis - arthropathy - camptodactyly Pericarditis - artropatía - camptodactilia Perikarditis - Arthritis - Kamptodaktylie Péricardite - arthrite - camptodactylie Sindrome CACP Sindrome artropatia-camptodattilia Sindrome di Jacobs Syndrome de Jacobs Síndrome CACP Síndrome artropatia - camptodactilia Síndrome de Jacobs Síndrome de Jacobs Síndrome de artropatía-camptodactilia Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome Kamptodaktylie-Arthropathie-Coxa-vara-Perikarditis-Syndrom Sindrome camptodattilia-artropatia-ginocchio varo-pericardite Syndrome de camptodactylie-arthropathie-coxa vara-péricardite Síndrome de camptodactilia-artropatía-coxa vara-pericarditis Síndrome pericardite - artropatia - camptodactilia hrdo:pat_id_2584 203650 610422 613930 neant Q87.8 2850 disease Alopecia - ritardo mentale Alopezie - geistige Retardierung Alopécie - déficit intellectuel Perniola-Krajewska-Carnevale syndrome Perniola-Krajewska-Carnevale, síndrome de Síndrome de Perniola-Krajewska-Carnevale Síndrome de Perniola-Krajewska-Carnevale Alopecia-intellectual deficit syndrome Perniola-Krajewska-Carnevale-Syndrom Sindrome di Perniola-Krajewska-Carnevale Syndrome de Perniola-Krajewska-Carnevale Síndrome alopecia - atraso mental Síndrome de alopecia - déficit intelectual hrdo:pat_id_2587 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter C537586 neant 2853 C1838257 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Exner syndrome Exner, síndrome de Exner-Syndrom Incurvation serpentine du péroné Sindrome di Exner Syndrome d'Exner Síndrome de Exner Síndrome de Exner Fibula a serpentina - reni policistici Peroné en serpentín - riñón poliquístico Perónio em serpentina - rins poliquísticos Péroné en serpentin - rein polykystique Schlangenfibula - polyzystische Nieren Serpentine fibula - polycystic kidneys hrdo:pat_id_2588 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 228930 C538189 neant Q74.8 2854 C1856728 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Fibula-Hypoplasie - gekrümmter Femur - Oligodaktylie Fibular hypoplasia or aplasia - femoral bowing - oligodactyly Fuhrman-Rieger-de-Sousa-Syndrom Fuhrmann-Rieger-de Sousa syndrome Fuhrmann-Rieger-de Sousa, síndrome de Hypoplasie ou aplasie du péroné - incurvation du fémur - oligodactylie Ipoplasia o aplasia fibulare - incurvamento del femore - oligodattilia Sindrome di Fuhrmann-Rieger-de Sousa Syndrome de Fuhrmann-Rieger-de Sousa Síndrome de Fuhrmann-Rieger-de Sousa Fuhrmann syndrome Fuhrmann-Syndrom Hipoplasia do perónio - encurvamento do fémur - oligodactilia Sindrome di Fuhrmann Syndrome de Furhmann Síndrome de Fuhrmann hrdo:pat_id_2589 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 233400 614926 neant Q87.8 2855 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Disgenesia gonadal tipo XX - surdez Disgenesia gonadica tipo XX - sordità Dysgénésie gonadique type XX - surdité XX gonodal dysgenesis - deafness XX-Gonadendysgenesie mit Taubheit Perrault syndrome Perrault-Syndrom Sindrome di Perrault Syndrome de Perrault Síndrome de Perrault Síndrome de Perrault hrdo:pat_id_259 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 241200 601678 602522 607364 613090 D001477 10050839 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22bartter+syndrome%22%5BMH%5D+OR+Bartter+syndrome%5BTi%5D+OR+Bartter%27s+syndrome%5BTi%5D E26.8 112 71275003 C0004775 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Alcalose hipocaliémica com hipercalciúria Alcalose hypokaliémique - hypercalciurie Alcalosi ipokaliemica - ipercalciuria Hypokalemic alkalosis - hypercalciuria Hypokaliämische Alkalose - Hyperkalziurie Bartter syndrome Bartter-Syndrom Sindrome di Bartter Syndrome de Bartter Síndrome de Bartter Síndrome de Bartter hrdo:pat_id_2590 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 604229 C537884 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Peters+anomaly%5Btw%5D+OR+Peter%27s+anomaly%5Btw%5D Q13.4 708 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Glaucoma congenito di Peters Glaucoma congénito de Peters Glaucome congénital de Peters Glaukom, kongenitales, Typ Peters Peters congenital glaucoma Anomalia de Peters Anomalia di Peters Anomalie de Peters Anomalía de Peters Peters anomaly Peters-Anomalie hrdo:pat_id_2591 2858 Hennekam-Koss-de Geest syndrome Hennekam-Koss-de Geest, síndrome de Hennekam-Koss-de-Geest-Syndrom Sindrome di Hennekam-Koss-de Geest Syndrome de Hennekam-Koss-de Geest Síndrome de Hennekam-Koss-de Geest Síndrome de Hennekam-Koss-de Geest Baixa estatura - contraturas - hipotonia Bassa statura - contratture - ipotonia Kleinwuchs - Kontrakturen - Hypotonie Petite taille - contractures - hypotonie Short stature - contractures - hypotonia Talla baja - contracturas - hipotonia hrdo:pat_id_2593 C535269 2860 C2930859 malformation syndrome Baixa estatura - hipercaliémia - acidose Kleinwuchs mit Hyperkalämie und Azidose Short stature - hyperkaliemia - acidosis Sindrome di Preeyasombat-Viravithya Syndrome de Preeyasombat-Varavithya Talla baja - hipercaliemia - acidosis Bassa statura - iperkaliemia - acidosi Petite taille - hyperkaliémie - acidose Preeyasombat-Varavithya syndrome Preeyasombat-Viravithya-Syndrom Síndrome de Preeyasombat-Viravithya Síndrome de Preeyasombat-Viravithya hrdo:pat_id_2594 2861 malformation syndrome D Ercole, síndrome de D'Ercole syndrome D'Ercole-Syndrom Sindrome di D'Ercole Syndrome de D’Ercole Síndrome de D Ercole Síndrome de D'Ercole Baixa estatura - microcefalia - cardiopatia Bassa statura - microcefalia - cardiopatia Kleinwuchs - Mikrozephalie - Herzfehler Petite taille - microcéphalie - cardiopathie Short stature - microcephaly - heart defect Talla baja - microcefalia - cardiopatía hrdo:pat_id_2596 185120 neant 2863 malformation syndrome Sindrome di Stratton-Parker Stratton-Parker syndrome Stratton-Parker, síndrome de Stratton-Parker-Syndrom Syndrome de Stratton-Parker Síndrome de Stratton-Parker Síndrome de Stratton-Parker Baixa estatura - ossos vormianos - dextrocardia Bassa statura - ossa wormiane - destrocardia Kleinwuchs - Wormsche Knochen - Dextrokardie Petite taille - os wormiens - dextrocardie Short stature - wormian bones - dextrocardia Talla baja - huesos wormianos - dextrocardia hrdo:pat_id_2597 2864 malformation syndrome Baixa estatura - prognatismo - colo do fémur curto Bassa statura - prognatismo - femore corto Kleinwuchs - Prognathie - kurzer Oberschenkelhals Petite taille - prognathisme - fémur court Short stature - prognathism - short femoral necks Talla baja - prognatismo - fémur corto hrdo:pat_id_2598 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q87.8 2865 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Al Gazali-Aziz-Salem syndrome Al Gazali-Aziz-Salem, síndrome de Al Gazali-Aziz-Salem-Syndrom Sindrome di Al Gazali-Aziz-Salem Syndrome d'Al Gazali-Aziz-Salem Síndrome de Al Gazali-Aziz-Salem Baixa estatura - pterígio do pescoço - cardiopatia Bassa statura - pterigio del collo - cardiopatia Estatura baja - cuello ancho - trastorno cardiaco Kleinwuchs - Pterygium colli - Kardiopathie Petite taille - pterygium coll - cardiopathie congénitale Short stature - webbed neck - heart disease hrdo:pat_id_2599 2866 malformation syndrome Sindrome di Thong-Douglas-Ferrante Syndrome de Thong-Douglas-Ferrante Síndrome de Thong-Douglas-Ferrante Thong-Douglas-Ferrante syndrome Thong-Douglas-Ferrante, síndrome de Thong-Douglas-Ferrante-Syndrom Baixa estatura - surdez - disfunção dos neutrófilos - dismorfia Bassa statura - sordità - anomalia dei neutrofili Estatura baja - sordera - disfunción neutrófila - dismorfismo Kleinwuchs - Schwerhörigkeit - neutrophile Funktionsstörung - Dysmorphien Petite taille - surdité - neutrophiles anormaux Short stature - deafness - neutrophil dysfunction - dysmorphism hrdo:pat_id_26 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 256550 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=sialidosis%5Btw%5D+(type+1%5Btw%5D+OR+type+i%5Btw%5D+OR+sialidosis+i%5Btw%5D) E77.1 812 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cherry-red-spot - myoclonus Cherry-red-spot-myoclonus syndrome Deficiência de neuraminidase Kirschroter Fleck-Myoklonus-Syndrom Lipomucopolisacaridosis Lipomucopolisaccaridosi Lipomucopolysaccharidose Lipomucopolysaccharidosis Lipomukopolysaccharidose Mucolipidose tipo 1 Neuraminidase, deficiência de Normomorphic sialidosis Sialidose normomorphique Sialidose, normomorphe Sialidosi normomorfa Sialidosis normomórfica Sindrome macchia rosso ciliegia-mioclono Syndrome "cherry-red-spot-myoclonus" Síndrome de mioclonus con mancha rojo cereza Sialidose Typ 1 Sialidose tipos 1 e 2 Sialidose type 1 Sialidosi, tipo 1 Sialidosis tipo 1 Sialidosis type 1 hrdo:pat_id_260 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 130650 D001506 10050344 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=beckwith+wiedemann+syndrome%5Bmh%5D+OR+Beckwith+Wiedemann+syndrome%5Btw%5D Q87.3 116 81780002 C0004903 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 BWS BWS BWS BWS Disomia uniparentale paterna del cromosoma 11, tipo mosaico Esonfalo - macroglossia - gigantismo Exomphalos - Makroglossie - Gigantismus Exomphalos - macroglossia - gigantism Exonfalos - macroglossia - gigantismo, síndrome de Omphalocèle - macroglossie - gigantisme Onfalocele - macroglosia - gigantismo SBW Sindrome di Wiedemann-Beckwith Syndrome de Wiedemann-Beckwith Síndrome de Wiedemann-Beckwith Síndrome de Wiedemann-Beckwith Síndrome de exonfalos - macroglossia - gigantismo Wiedemann-Beckwith syndrome Wiedemann-Beckwith, síndrome de Wiedemann-Beckwith-Syndrom Beckwith-Wiedemann syndrome Beckwith-Wiedemann-Syndrom Sindrome di Beckwith-Wiedemann Syndrome de Beckwith-Wiedemann Síndrome de Beckwith-Wiedemann Síndrome de Beckwith-Wiedemann hrdo:pat_id_2600 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601350 C537121 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Short+stature+AND+brussels%5Btw%5D Q87.1 2867 C1832439 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Mievis-Verellen Dumoulin syndrome Mievis-Verellen-Dumoulin, síndrome de Mievis-Verellen-Dumounin-Syndrom Sindrome di Mievis-Verellen-Dumounin Syndrome de Mievis-Verellen Dumoulin Síndrome de Mievis-Verellen-Dumoulin Síndrome de Mievis-Verellen-Dumounin Baixa estatura tipo Bruxelas Bassa statura, tipo Bruxelles Kleinwuchs Typ Brüssel Petite taille type Bruxelles Short stature, Brussels type Talla baja tipo Bruselas hrdo:pat_id_2601 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 126190 2868 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Baixa estatura - valvulopatia - face peculiar Bassa statura - valvulopatia cardiaca - facies caratteristica Kleinwuchs - Herzklappenfehler - charakteristisches Gesicht Petite taille - valvulopathie cardiaque - dysmorphie Short stature - valvular heart disease - characteristic facies Talla baja - valvulopatía cardíaca - facies característica hrdo:pat_id_2602 261560 C537889 neant Q87.1 2871 C1849929 malformation syndrome Pfeiffer-Palm-Teller syndrome Pfeiffer-Palm-Teller-Syndrom Sindrome di Pfeiffer-Palm-Teller Syndrome de Pfeiffer-Palm-Teller Síndrome de Pfeiffer-Palm-Teller Síndrome de Pfeiffer-Palm-Teller hrdo:pat_id_2603 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 218450 neant Q87.8 2872 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Craneoestenosis sagital con enfermedad cardiaca congénita, déficit intelectual y anquilosis mandibular Craneosinostosis - enfermedad cardiaca congénita - déficit intelectual Cranioestenose com cardiopatia congénita - atraso mental Craniosinostosi - cardiopatia - ritardo mentale Craniostenosi sagittale - cardiopatia congenita - ritardo mentale - anchilosi mandibolare Craniosténose sagittale - cardiopathie congénitale - déficit intellectuel - ankylose mandibulaire Craniosynostose - cardiopathie - déficit intellectuel Craniosynostosis - congenital heart disease - intellectual deficit Kardiokraniales Syndrom Typ Pfeiffer Kraniosynostose - kongenitale Herzerkrankung - geistige Retardierung Pfeiffer, síndrome cardio-craniano de Pfeiffer-Singer-Zschiesche syndrome Pfeiffer-Singer-Zschiesche-Syndrom Sagittal craniostenosis with congenital heart disease, mental deficiency and mandibular ankylosis Sagittalnahtsynostose mit kongenitaler Herzerkrankung, geistiger Retardierung und mandibulärer Ankylose Syndrome de Pfeiffer-Singer-Zschiesche Síndrome cardio-craniano de Pfeiffer Síndrome cardiocraneal de Pfeiffer Síndrome de Pfeiffer-Singer-Zschiesche Cardiocranial syndrome, Pfeiffer type Craneosinostosis - enfermedad cardiaca congénita - déficit intelectual Kraniosynostose - kongenitale Herzerkrankung - Intelligenzminderung Sindrome di Pfeiffer-Singer-Zschiesche Syndrome cardio-crânien type Pfeiffer Síndrome de Pfeiffer-Singer-Zschiesche hrdo:pat_id_2605 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance C537893 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Phacomatosis+pigmentokeratotica Q85.8 2874 C2931658 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Facomatose pigmento-queratótica Facomatosi pigmento-cheratosica Facomatosis pigmento querátótica Phacomatose pigmento-kératosique Phakomatosis pigmento-keratotica Phakomatosis pigmentokeratotica hrdo:pat_id_2606 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Phacomatosis+pigmentovascularis%5Btw%5D+OR+Phakomatosis+pigmentovascularis%5Btw%5D Q85.8 2875 disease Facomatose pigmento-vascular Facomatosi pigmento-vascolare Facomatosis pigmentovascular Phacomatose pigmento-vasculaire Phakomatosis pigmentovascularis Phakomatosis pigmentovascularis hrdo:pat_id_2607 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 261575 2876 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Powell-Chandra-Saal syndrome Powell-Chandra-Saal, síndrome de Powell-Chandra-Saal-Syndrom Sindrome di Powell-Chandra-Saal Syndrome de Powell-Chandra-Saal Síndrome de Powell-Chandra-Saal Síndrome de Powell-Chandra-Saal PHAVER syndrome Phaver-Syndrom Sindrome di Phaver Syndrome PHAVER Síndrome PHAVER Síndrome de Phaver hrdo:pat_id_2609 171480 neant Q87.2 2878 malformation syndrome Sindrome di Stoll-Levy-Francfort Stoll-Levy-Francfort syndrome Stoll-Levy-Francfort, síndrome de Stoll-Levy-Francfort-Syndrom Syndrome de Stoll-Levy-Francfort Síndrome de Stoll-Levy-Francfort Síndrome de Stoll-Levy-Francfort Focomelia - ectrodactilia - sordera - arritmia Focomelia - ectrodactilia - surdez - arritmia sinusal Focomelia - ectrodattilia - sordità - aritmia Phocomelia - ectrodactyly - deafness - sinus arrhythmia Phocomélie - ectrodactylie - surdité - arythmie Phokomelie - Ektrodaktylie - Schwerhörigkeit - Sinusarrhythmie hrdo:pat_id_261 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 101200 D000168 10002943 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(apert%5Bti%5D+OR+apert+s%5Bti%5D)+OR+((apert+synd*%5Btw%5D+OR+apert+s%5Btw%5D)+Acrocephalosyndactylia) Q87.0 87 205258009 C0001193 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 ACPS I ACS 1 ACS 1 ACS 1 ACS 1 Acro-céphalo-syndactylie type 1 Acrocefalosindactilia tipo 1 Acrocefalosindattilia, tipo 1 Acrocefalossindactilia tipo 1 (ACPS 1) Acrocephalosyndactyly type 1 Akrozephalosyndaktylie Typ 1 Apert syndrome Apert-Syndrom Sindrome di Apert Syndrome d'Apert Síndrome de Apert Síndrome de Apert hrdo:pat_id_2610 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 276820 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=((ulna+fibula+(absence+OR+abnormalities)+Limb+Deformities,+Congenital)+OR+phocomelia+syndrome)+(%22Al+Awadi%22+OR+Raas+Rothschild+OR+Schinzel) Q87.2 2879 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Absence de cubitus et péroné Absence of ulna and fibula Al-Awadi-Raas-Rothschild syndrome Al-Awadi-Raas-Rothschild, síndrome de Al-Awadi/Raas-Rothschild-Syndrom   Aplasia/hipoplasia de extremidades y pelvis Aplasia/hipoplasia do membros e pélvis Aplasia/hipoplasia dos membros e pélvis Aplasia/hypoplasia of limbs and pelvis Aplasia/ipoplasia degli arti e del bacino Aplasie/hypoplasie des membres et du pelvis Apoplasie/Hypoplasie von Gliedmaßen und Becken Assenza dell'ulna e del perone Ausencia de cúbito y peroné Ausência de cúbito e perónio Cúbito e perónio, ausência de Deficiencia de miembros, severa Deficit grave degli arti Défice grave dos membros Déficit sévère des membres Severe limb deficit Sindrome di Al Awadi-Raas-Rothschild Syndrome d'Al Awadi-Raas-Rothschild Síndrome de Al-Awadi-Raas-Rothschild Síndrome de Al-Awadi-Raas-Rothschild Focomelia de tipo Schinzel Focomelia tipo Schinzel Focomelia, tipo Schinzel Phocomelia, Schinzel type Phocomélie type Schinzel Phokomelie Typ Schinzel hrdo:pat_id_2611 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 219095 C536224 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Photosensitivity+Disorders+OR+cutaneous+photosensitivity%29+colitis+lethal L57.8 2881 C1857449 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cutaneous photosensitivity - lethal colitis Fotosensibilidad cutánea - colitis letal Fotosensibilità cutanea - colite letale Fotossensibilidade cutânea - colite, letal Kutane Photosensitivität - letale Kolitis Photosensibilité cutanée - colite létale hrdo:pat_id_2612 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 172800 D016116 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Piebaldism%5Bti%5D+OR+Piebaldism%5Bmajr%5D E70.3 2884 6479008 C0080024 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Piebaldism Piebaldismo Piebaldismo Piebaldismo Piebaldismus Piébaldisme hrdo:pat_id_2613 172850 2885 malformation syndrome Sindrome di Telfer-Sugar-Jaeger Syndrome de Telfer-Sugar-Jaeger Síndrome de Telfer-Sugar-Jaeger Síndrome de Telfer-Sugar-Jaeger Telfer-Sugar-Jaeger syndrome Telfer-Sugar-Jaeger, síndrome de Telfer-Sugar-Jaeger-Syndrom Piebald trait - neurologic defects Piebaldismo - anomalie neurologiche Piebaldismo - neuropatías Piebaldismo - sinais neurológicos Piebaldismus - neurologische Anomalien Piébaldisme - anomalies neurologiques hrdo:pat_id_2614 311900 C536942 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28pierre+robin+syndrome%5Bmh%5D+OR+robin+sequence%5Btw%5D%29+%28congenital+heart+defect+OR+cardiac+defect*%5Btw%5D%29+%28talipes+OR+clubfoot%29 Q87.8 2886 C1839463 malformation syndrome Piedi torti equino-vari - difetto del setto atriale - sequenza di Pierre Robin - persistenza della vena cava superiore sinistra Pierre Robin sequence - congenital heart defect - talipes Pierre Robin syndrome - congenital heart defect - talipes Pierre-Robin-Sequenz - kongenitaler Herzdefekt - Klumpfüße Pierre-Robin-Syndrom - Kardiopathie - Klumpfüße Sequenza di Pierre Robin - cardiopatia congenita - piedi torti Sindrome di Pierre Robin - cardiopatia congenita - piedi torti Syndrome de Pierre Robin - malformations cardiaques - pieds bots Séquence de Pierre Robin - malformations cardiaques - pieds bots Síndrome de Pierre Robin - defecto congénito del corazón - pie zambo Talipes equinovarus - Vorhofseptumdefekt - Robin-Sequenz - Persistenz des linken Ductus Cuvieri Talipes equinovarus - atrial septal defect - Robin sequence - Persistence of the left superior vena cava Talipes equinovarus - defecto septal atrial - secuencia de Robin - persistencia de la vena cava superior izquierda Sequência de Pierre-Robin - cardiopatia congénita - pés botos Sindrome TARP Syndrome TARP Síndrome TARP TARP syndrome TARP-Syndrom hrdo:pat_id_2616 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 311895 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28pierre+robin+syndrome%5Bmh%5D+OR+robin+sequence%5Bti%5D%29+%28faciodigital+OR+%28facial%5Bti%5D+digital%5Bti%5D%29%29 Q87.8 2888 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Chitayat-Meunier-Hodgkinson syndrome Chitayat-Meunier-Hodgkinson, síndrome de Chitayat-Meunier-Hodgkinson-Syndrom Pierre Robin sequence - faciodigital anomaly Pierre-Robin-Syndrom - fazio-digitale Anomalien Secuencia de Pierre Robin - anomalía faciodigital Sequenza di Pierre Robin - anomalia faciodigitale Sindrome di Chitayat-Meunier-Hodgkinson Syndrome de Chitayat-Meunier-Hodgkinson Séquence de Pierre Robin - anomalie facio-digitale Síndrome de Chitayat-Meunier-Hodgkinson Síndrome de Chitayat-Meunier-Hodgkinson Pierre Robin syndrome - faciodigital anomaly Pierre-Robin-Sequenz - fazio-digitale Anomalien Sequência de Pierre-Robin - anomalia facio-digital Sindrome di Pierre Robin - anomalia faciodigitale Syndrome de Pierre Robin - anomalie facio-digitale Síndrome de Pierre Robin - anomalía faciodigital hrdo:pat_id_2617 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance C537399 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=onychodysplasia+Pili+torti 2890 C2931483 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Peli torti - onicodisplasia Pili Torti onicodisplasia Pili torti - Onychodysplasie Pili torti - onicodisplasia Pili torti - onychodysplasia Pili torti - onychodysplasie hrdo:pat_id_2618 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 261900 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Twisted+hair*%5Bti%5D+OR+pili+torti%5Bti%5D Q84.1 2889 17170005 C0263491 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Twisted hair Peli torti Pili Torti Pili torti Pili torti Pili torti Pili torti hrdo:pat_id_2619 261990 C537398 2891 C1849811 malformation syndrome Peli torti - ritardo di sviluppo - anomalie neurologiche Pili Torti retraso de desarrollo neuropatía Pili torti - Entwicklungsverzögerung - neurologische Anomalien Pili torti - atraso do desenvolvimento - anomalias neurológicas Pili torti - developmental delay - neurological abnormalities Pili torti - retard de développement - anomalies neurologiques hrdo:pat_id_2620 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 262020 2892 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia ectodermica euidrotica Displasia ectodérmica eu-hidrótica Dysplasie ectodermique euhidrotique Dysplasie, ektodermale euhidrotische Euhidrotic ectodermal dysplasia Kopysc-Barczyk-Krol syndrome Kopysc-Barczyk-Krol, síndrome de Sindrome di Kopysc-Barczyk-Krol Syndrome de Kopysc-Barczyk-Krol Síndrome de Kopysc-Barczyk-Krol Síndrome de Kopysc-Barczyk-Krol Displasia pilo-dental com erros refrativos Displasia pilodental Displasia pilodentale Dysplasie pilo-dentaire Dysplasie, pilo-dentale - Refraktionsanomalien Pilodental dysplasia - refractive errors hrdo:pat_id_2622 C537400 2894 C2931484 malformation syndrome Pilotto syndrome Pilotto-Syndrom Sindrome di Pilotto Syndrome de Pilotto Síndrome de Pilotto Síndrome de Pilotto hrdo:pat_id_2623 neant 2895 malformation syndrome Microftalmia - atraso mental Microftalmia - déficit intelectual Microftalmia - ritardo mentale Microphtalmie - déficit intellectuel Microphthalmia - mental deficiency Mikropthalmie mit mentaler Retardierung Pinsky-Di George-Harley syndrome Pinsky-Di George-Harley-Syndrom Sindrome di Pinsky-Di George-Harley Syndrome de Pinsky-Di George-Harley Síndrome de Pinsky-Di George-Harley Síndrome de Pinsky-di George-Harley hrdo:pat_id_2624 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 610954 C537403 2896 C1970431 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Pitt-Hopkins syndrome Pitt-Hopkins-Syndrom Sindrome di Pitt-Hopkins Syndrome de Pitt-Hopkins Síndrome de Pitt Hopkins Síndrome de Pitt-Hopkins hrdo:pat_id_2625 601216 neant Q76.3 2899 disease Sindrome di Verloes-Bourguignon Syndrome de Verloes-Bourguignon Síndrome de Verloes-Bourguignon Síndrome de Verloes-Bourguignon Verloes-Bourguignon syndrome Verloes-Bourguignon, síndrome de Verloes-Bourguignon-Syndrom Platispondilia - amelogenesi imperfetta Platispondilia - amelogénese imperfeita Platispondilia - amelogénesis imperfecta Platispondylie - amélogenèse imparfaite Platyspondylie, Amelogenesis imperfecta Platyspondyly - amelogenesis imperfecta hrdo:pat_id_2626 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 151200 C537118 neant Q68.8 2900 41656005 C0265311 C1835450 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Leri pleonosteosis Pleonoesteose de Leri Pleonosteose Leri Pleonosteosis Pleonostosi di Léri Pléonostéose hrdo:pat_id_2627 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D016878 10053869 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22poems+syndrome%22%5BMH%5D+OR+%28POEMS+syndrome%5BTW%5D+NOT+medline%5Bsb%5D%29 D47.7 2905 425657001 79268002 C0085404 C1510415 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Crow-Fukase syndrome Crow-Fukase, síndrome de Crow-Fukase-Syndrom Mieloma osteosclerotico Mieloma osteosclerótico Myelom, osteosklerotisches Myélome ostéosclérosant Osteosclerotic myeloma PEP syndrome Polineuropatia - endocrinopatia - discrasia delle cellule plasmatiche (PEP) Polineuropatia - endocrinopatia - discrasia dos plasmócitos (PEP) Polyneuropathie - Endokrinopathie - Plasmazelldyskrasie (PEP) Polyneuropathie - endocrinopathie - dyscrasie plasmocytaire Polyneuropathy - Endocrinopathy - Plasma cell dyscrasia Sindrome di Crow-Fukase Sindrome di Takatsuki Syndrome PEP Syndrome de Crow-Fukase Syndrome de Takatsuki Síndrome de Crow-Fukase Síndrome de Crow-Fukase Síndrome de Takatsuki Takatsuki syndrome Takatsuki, síndrome de Takatsuki-Syndrom POEMS syndrome POEMS-Syndrom Sindrome POEMS Syndrome POEMS Síndrome POEMS Síndrome POEMS hrdo:pat_id_2629 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Poikiloderma+%28acrokeratotic+OR+Weary%5Btw%5D%29+OR+Kindler+syndrome%5Btw%5D Q82.8 2907 clinical subtype Congenital poikiloderma with bullae, Weary type Poichilodermia congenita con bolle, tipo Weary Poikilodermie, bullöse kongenitale, Typ Weary Poiquilodermia congénita com bolhas tipo Weary Poiquilodermia congénita con burbujas tipo Weary Poïkilodermie congénitale avec bulles type Weary Hereditary acrokeratotic poikiloderma, Weary type Poichilodermia acrocheratosica congenita di Weary Poikilodermie, akrokeratotische kongenitale, Typ Weary Poiquilodermia acroqueratósica congénita de Weary Poiquilodermia acroqueratótica hereditária tipo Weary Poïkilodermie acrokératosique congénitale de Weary hrdo:pat_id_263 Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(ataxia%5Bti%5D+OR+ataxia%5Bmajr%5D)+dominant+OR+spinocerebellar+ataxias G11.8 99 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 ADCA ADCA ADCA Atassia spinocerebellare Ataxia espinocerebelosa Ataxie spinocérébelleuse Autosomal dominant spinocerebellar ataxia Kleinhirnataxie Spinozerebelläre Ataxie Atassia cerebellare, autosomica dominante Ataxia cerebelosa autossómica dominante Ataxia espinocerebelosa autosómica dominante Ataxie cérébelleuse autosomique dominante Ataxie, autosomal-dominante zerebelläre Autosomal dominant cerebellar ataxia hrdo:pat_id_2630 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 173800 D011045 10036007 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=poland+syndrome%5BTi%5D+OR+Poland+anomaly%5BTi%5D+OR+%22poland+syndrome%22%5BMH%5D Q79.8 2911 38371006 C0032357 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Anomalie de Poland Poland anomaly Poland sequence Poland-Sequenz Séquence de Poland Anomalia de Poland Poland syndrome Poland-Syndrom Sindrome di Poland Syndrome de Poland Síndrome de Poland hrdo:pat_id_2634 263540 2916 malformation syndrome Polidactilia dentales y vertebrales anomalías Polidactilia pós-axial - anomalias dos dentes e vértebras Polidattilia postassiale - anomalie dentovertebrali Polydactylie - anomalies dentaires et vertébrales Polydactyly postaxial - dental and vertebral anomalies Polydaktylie, postaxiale - dentale und vertebrale Anomalien hrdo:pat_id_2635 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 174310 neant Q87.2 2917 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Czeizel-Brooser syndrome Czeizel-Brooser, síndrome de Czeizel-Brooser-Syndrom Sindrome di Czeizel-Brooser Syndrome de Czeizel-Brooser Síndrome de Czeizel-Brooser Polidattilia - miopia Polydactylie - myopie Polydactyly-myopia syndrome Polydaktylie - Myopie Síndrome de polidactilia-miopía Síndrome polidactilia - miopia hrdo:pat_id_2637 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 174300 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Oral+facial+digital+syndrome+%28type+5%5Btw%5D+OR+type+v%5Btw%5D+OR+thurston%5Btw%5D%29+OR+%28hexadactyl*%5Bti%5D+accessory+toe*%5Bti%5D%29 Q87.0 2919 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 OFD5 OFD5 OFD5 OFD5 OFD5 Oro-facio-digital tipo Thurston, síndrome Oro-fazio-digitales Syndrom Typ Thurston Orofaciodigital syndrome type 5 Orofaciodigital syndrome, Thurston type Polidactilia postaxial con labio leporino Polidactilia pós-axial com fenda mediana do lábio superior Polidattilia postassiale - schisi mediana del labbro superiore Polydactylie postaxiale - fente labiale médiane Polydactyly postaxial with median cleft of upper lip Postaxiale Polydaktylie mit medianer Spalte der Unterlippe Sindrome di Thurston Sindrome oro-facio-digitale, tipo Thurston Syndrome de Thurston Syndrome orofacial type Thurston Syndrome orofaciodigital de type 5 Síndrome de Thurston Síndrome oro-facio-digital tipo Thurston Síndrome orofaciodigital tipo 5 Síndrome orofaciodigital tipo Thurston Thurston syndrome Thurston-Syndrom Oral-facial-digital syndrome type 5 Oro-fazio-digitales Syndrom Typ 5 Sindrome oro-facio-digitale, tipo 5 Syndrome oro-facio-digital de type 5 Síndrome oral-facial-digital tipo 5 Síndrome oro-facio-digital tipo 5 hrdo:pat_id_2638 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 258200 neant Q87.2 2920 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Oliver-Syndrom Polidactilia postaxial - déficit intelectual Polidactilia pós-axial - atraso mental Polydactylie postaxiale - déficit intellectuel Postaxial polydactyly - intellectual deficit Sindrome di Oliver Oliver syndrome Polidattilia postassiale - ritardo mentale Polydaktylie, postaxiale - geistige Retardierung Syndrome d'Oliver Síndrome de Oliver Síndrome de Oliver hrdo:pat_id_2639 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Preaxial+polydactyly+coloboma+mental+retardation+mayer 2921 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Pfeiffer-Mayer syndrome Pfeiffer-Mayer, síndrome de Pfeiffer-Mayer-Syndrom Sindrome di Pfeiffer-Mayer Syndrome de Pfeiffer-Mayer Síndrome de Pfeiffer-Mayer Polidactilia preaxial - coloboma - déficit intelectual Polidactilia pré-axial - coloboma - atraso mental Polidattilia preassiale - coloboma - ritardo mentale - bassa statura Polydactylie préaxiale - colobome - déficit intellectuel - petite taille Preaxial polydactyly - colobomata - intellectual deficit Präaxiale Polydaktylie - Kolobome - geistige Retardierung hrdo:pat_id_264 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 108500 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=familial%5Btw%5D+AND+%28periodic%5Btw%5D+OR+episodic%5Btw%5D+OR+paroxysmal%5Btw%5D%29+AND+cerebellar+ataxia%5Bmh:noexp%5D G11.8 97 420932006 C1720416 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Atassia episodica, tipo 2 Ataxia episódica, tipo 2 Ataxie épisodique type 2 Ataxie, episodische, Typ 2 Episodic ataxia type 2 Atassia parossistica familiare Ataxia paroxística familiar Ataxia paroxística familiar Ataxie paroxystique familiale Ataxie, paroxysmale, familiäre Familial paroxysmal ataxia hrdo:pat_id_2641 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 174050 C536330 10010427 10048834 Q44.6 2924 72925005 C0158683 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 ADPCLD ADPCLD Autosomal dominant polycystic liver disease Enfermedad poliquística autosómica dominante Malattia epatica policistica autosomica dominante PCLD PCLD PCLD PCLD Polykystose hépatique autosomique dominante Doença hepática poliquística Enfermedad poliquística hepática aislada Isolated polycystic liver disease Lebererkrankheit, polyzystische Malattia epatica policistica isolata Polykystose hépatique isolée hrdo:pat_id_2642 2925 malformation syndrome Polimicrogiria - turricefalia - hipogenitalismo Polimicrogiria - turricefalia - hipogenitalismo Polimicrogiria - turricefalia - ipogenitalismo Polymicrogyria - turricephaly - hypogenitalism Polymicrogyrie - turricéphalie - hypogénitalisme Polymikrogyrie - Turrizephalus - Hypogenitalismus hrdo:pat_id_2643 207740 2926 malformation syndrome Hamanishi-Ueba-Tsuji syndrome Hamanishi-Ueba-Tsuji, síndrome de Hamanishi-Ueba-Tsuji-Syndrom Sindrome di Hamanishi-Ueba-Tsuji Syndrome de Hamanishi-Ueba-Tsuji Síndrome de Hamanishi-Ueba-Tsuji Síndrome de Hamanishi-Ueba-Tsuji Polineuropatia - anomalias das mãos Polineuropatia - camptodattilia Polineuropatía - camptodactilia Polyneuropathie - Kamptodaktylie Polyneuropathie - camptodactylie Polyneuropathy - hand defect hrdo:pat_id_2645 2928 malformation syndrome Lundberg syndrome Lundberg, síndrome de Lundberg-Syndrom Sindrome di Lundberg Syndrome de Lundberg Síndrome de Lundberg Síndrome de Lundberg Polineuropatia - atraso mental - acromicria - menopausa precoce Polineuropatia - oligofrenia - menopausa precoce Polineuropatía - oligofrenia - menopausia precoz Polyneuropathie - geistige Retardierung - Akromikrie - vorzeitige Menopause Polyneuropathie - oligophrénie - ménopause précoce Polyneuropathy - intellectual deficit - acromicria - premature menopause hrdo:pat_id_2646 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 175500 10062907 2930 76304001 C0282207 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cronkhite-Canada, síndrome de Gastrointestinal polyposis - ectodermal changes Gastrointestinal polyposis - skin pigmentation - alopecia - fingernail changes Gastrointestinale Polypose - ektodermale Veränderungen Poliposi gastrointestinale - anomalie ectodermiche Poliposi gastrointestinale - pigmentazione cutanea - alopecia - anomalie delle unghie Poliposis - pigmentación de la piel - alopecia - cambios en las uñas de las manos Poliposis gastrointestinal - cambios ectodérmicos Poliposis gastrointestinal - pigmentación cutánea- alopecia- cambios en las uñas Poliposis gastrointestinal - pigmentación de la piel - alopecia - cambios en las uñas Polypose gastrintestinale - anomalies ectodermiques Polypose gastrointestinale - hyperpigmentation - alopécie - onychodystrophie Polyposis - Hyperpigmentierung - Alopezie - Anomalien der Fingernägel Síndrome de Cronkhite-Canada Cronkhite-Canada syndrome Cronkhite-Canada-Syndrom Polipose - hiperpigmentação cutânea - alopecia - anomalias ungueais Sindrome di Cronkhite-Canada Syndrome de Cronkhite-Canada Síndrome de Cronkhite-Canada hrdo:pat_id_2648 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 263630 neant Q87.8 2934 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Bonneau syndrome Bonneau-Syndrom Sindrome di Bonneau Syndrome de Bonneau Síndrome de Bonneau Polisindactilia - malformación cardíaca Polisindattilia - malformazione cardiaca Polissindactilia - cardiopatia Polysyndactylie - malformation cardiaque Polysyndactyly - cardiac malformation Polysyndaktylie - Herzfehler hrdo:pat_id_2649 175690 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=crossed+polysyndactyl*%5Btw%5D+OR+%28%28pre%5Btw%5D+OR+preaxial%29+postaxial+%28polysyndactyl*+OR+%28syndactyl*+polydactyly%5Bmh%5D%29%29%29 Q70.4 2935 malformation syndrome Crossed polydactyly Polidactila cruzada Polidactilia cruzada Polidattilia crociata Polydactylie croisée Polydaktylie, gekreuzte Crossed polysyndactyly Polisindactilia cruzada Polisindattilia crociata Polissindactilia cruzada Polysyndactylie croisée Polysyndaktylie, gekreuzte hrdo:pat_id_265 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 146750 242300 601277 604777 612281 613943 D017490 10023686 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=ichthyosiform+erythroderma%2C+congenital[mh]+OR+Congenital+ichthyosiform+erythr*[Ti]+OR+lamellar+ichthyo*[ti]+OR+epidermolytic+hyperkerat*[ti] Q80.2 313 205550003 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Classic lamellar ichthyosis Congenital lamellar ichthyosis IL Ichthyose, kongenitale lamelläre Ichthyose, lamelläre, klassische Form Ichtyose lamellaire classique Ichtyose lamellaire congénitale Ictiosis lamelar clásica Ictiosis lamelar congénita Ittiosi lamellare classica Ittiosi lamellare congenita LI LI LI LI Ichthyose, lamelläre Ichtyose lamellaire Ictiose lamelar Ictiosis lamelar Ittiosi lamellare Lamellar ichthyosis hrdo:pat_id_2654 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 175780 614483 10036172 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Porencephaly%5Bti%5D+%28familial+OR+congenital+OR+hereditary%29 Q04.6 2940 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Porencefalia Porencefalia familiar Porencefalia familiar Porencephaly Porencéphalie Porenzephalie hrdo:pat_id_2655 601322 2941 malformation syndrome Bonnemann-Meinecke syndrome Bonnemann-Meinecke, síndrome de Bonnemann-Meinecke-Syndrom Sindrome di Bonnemann-Meinecke Syndrome de Bonnemann-Meinecke Síndrome de Bonnemann-Meinecke Síndrome de Bonnemann-Meinecke Porencefalia - hipoplasia cerebelosa - malformaciones Porencefalia - hipoplasia cerebelosa - malformações internas Porencefalia - ipoplasia cerebellare - malformazioni interne Porencephaly - cerebellar hypoplasia - internal malformations Porencéphalie - hypoplasie cérébelleuse - malformations internes Porenzephalie - zerebelläre Hypoplasie - Fehlbildungen hrdo:pat_id_2656 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 191830 C536482 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(renal+adysplasia%5Btw%5D+OR+renal+agenesis%5Btw%5D)+bilateral%5Bti%5D+(humans+OR+patients) Q60.1 1848 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate morphological anomaly Oligoamnios, sequência de Potter clássico, síndrome de Potter puro, síndrome de Potter, sequência de Secuencia oligohidramnios Sequência de Oligoamnios Sequência de Potter Síndrome de Potter clásico Síndrome de Potter clássico Síndrome de Potter puro Síndrome de Potter puro Agenesia renal bilateral Agenesia renal bilateral, dominante Agenesia renale bilaterale Agénésie rénale bilatérale Bilateral renal agenesis Nierenagenesie, bilaterale hrdo:pat_id_2659 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 112430 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Hollister+long+thumb+brachydactyly Q87.2 2946 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Brachydactyly - long thumb Brachydaktylie mit langem Daumen Braquidactilia - pulgar largo Braquidactilia tipo polegar longo Pollice lungo - brachidattilia Pouce long - brachydactylie hrdo:pat_id_2660 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 190680 C536564 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=triphalangeal+thumb+ectrodactyly Q74.8 2947 C1860804 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Carnevale-Hernandez-Castillo, síndrome de Carnevale-Hernandez-Castillo-Syndrom Carnevale-Hernandez-del Castillo syndrome Sindrome di Carnevale-Hernandez-Castillo Syndrome de Carnevale-Hernandez-del Castillo Síndrome de Carnevale-Hernandez-Castillo Síndrome de Carnevale-Hernandez-Castillo Daumen, triphalangeale - Brachyektrodaktylie Polegares trifalângicos - braquiectrodactilia Pollice trifalangeo - brachiectrodattilia Pouce triphalangé - brachyectrodactylie Pulgar trifalángico - braquiectrodactilia Triphalangeal thumbs - brachyectrodactyly hrdo:pat_id_2662 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 174500 C536563 neant Q74.8 2950 C1969369 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome TPT-PS Syndrome TPT-PS Síndrome TPT-PS TPT-PS TPT-PS syndrome Triphalangealer Daumen-Polysyndaktylie-Syndrom Daumen, triphalangeale - Polysyndaktylie Pouce triphalangé - polysyndactylie Sindrome pollice trifalangeo-polisindattilia Síndrome de polegar trifalângico - polissindactilia Síndrome de pulgar trifalángico - polisindactilia Triphalangeal thumb - polysyndactyly syndrome hrdo:pat_id_2663 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 274190 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=thumb+AGENESIS+SHORT+STATURE+IMMUNODEFICIENCY D82.8 2951 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Absent thumb - short stature - immunodeficiency Ausência do polegar - baixa estatura - imunodeficiência Daumen, fehlende - Kleinwuchs - Immundefekt Pollici assenti - bassa statura - deficit immunitario Pouces absents - petite taille - déficit immunitaire Pulgares ausentes talla baja inmunodeficiencia hrdo:pat_id_2664 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 201550 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=adducted+thumb*%5Bti%5D+NOT+%28masa%5Btw%5D+OR+l1%5Btw%5D+OR+%28foot+syndrome%29%29 Q74.8 2952 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Craneosinostosis - artrogriposis - fisura palatina Kraniosynostose - Arthrogrypose - Gaumenspalte Adducted thumbs - arthrogryposis, Christian type Daumen, adduzierte - Arthrogrypose, Typ Christian Polegares adutos - artrogripose, tipo Christian Pollici addotti-artrogriposi, tipo Christian Pouces en adduction-arthrogrypose, type Christian Pulgares en aducción - artogriposis, tipo Christian hrdo:pat_id_2667 C538180 C538277 2956 C2931761 malformation syndrome Acrodisplasia - escoliose Acrodisplasia - escoliosis Acrodisplasia - scoliosi Acrodysplasia scoliosis Acrodysplasie - scoliose Akrodysplasie - Skoliose Brachidattilia - scoliosi - fusione dei carpi Brachydactylie - scoliose - fusion des carpes Brachydactyly - scoliosis - carpal fusion Brachydaktylie - Skoliose - karpale Fusion Braquidactilia - escoliose - sinostose do carpo Braquidactilia - escoliosis - fusión del carpo Prata-Liberal-Goncalves syndrome Prata-Liberal-Goncalves-Syndrom Sindrome di Prata-Liberal-Goncalves Syndrome de Prata-Liberal-Goncalves Síndrome Prata-Liberal-Goncalves Síndrome de Prata-Liberal-Goncalves hrdo:pat_id_2668 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 176305 C538278 neant Q87.2 2957 C1867801 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Difetto preassiale - polidattilia postassiale - ipospadia Déficit preaxial - polidactilia postaxial - hipospadias Déficit préaxial - polydactylie postaxiale - hypospadias Fehlbildung, präaxiale - postaxiale Polydaktylie - Hypospadie Preaxial deficiency - postaxial polydactyly - hypospadias Anomalia pré-axial - polidactilia pós-axial - hipospadias Guttmacher syndrome Guttmacher-Syndrom Sindrome di Guttmacher Syndrome de Guttmacher Síndrome de Guttmacher hrdo:pat_id_2669 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 309610 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Prieto+syndrome+mental+retardation+dysmorphism+x-linked 2958 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Prieto-Badia-Mulas syndrome Prieto-Badia-Mulas, síndrome de Prieto-Badia-Mulas-Syndrom Ritardo mentale legato all'X - dismorfismi- atrofia cerebrale Sindrome di Prieto-Badia-Mulas Syndrome de Prieto-Badia-Mulas Síndrome de Prieto-Badia-Mulas Atraso mental ligado ao X - dismorfias Déficit intelectual ligado al X - dismorfia - atrofia cerebral Déficit intellectuel lié à l'X - dysmorphie - atrophie cérébrale Geistige Retardierung, X-chromosomale - Dysmorphie - zerebrale Atrophie Intellectual deficit, X-linked - dysmorphism - cerebral atrophy Ritardo mentale legato all'X - dismorfismi - atrofia cerebrale hrdo:pat_id_2670 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 176670 D011371 10036794 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=progeria%5Bmh%5D+OR+progeria%5Bti%5D E34.8 740 238870004 C0033300 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hutchinson-Gilford, síndrome de Progeria Progeria Progeria Progerie Syndrome de Hutchinson-Gilford Síndrome de Hutchinson-Gilford Hutchinson-Gilford progeria syndrome Hutchinson-Gilford-Syndrom Progeria Progeria Sindrome progeroide di Hutchinson-Gilford Síndrome de Hutchinson-Gilford hrdo:pat_id_2671 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 176690 C536422 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28progeria+short+stature+pigmented+nevi%29+OR+%28Mulvihill-Smith+syndrome%29 2959 399947002 C1261128 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Mulvihill-Smith syndrome Mulvihill-Smith, syndrome de Mulvihill-Smith, síndrome de Mulvihill-Smith-Syndrom Sindrome di Mulvihill-Smith Síndrome de Mulvihill-Smith Síndrome de Mulvihill-Smith Progeria - baixa estatura - nevos pigmentados Progeria - bassa statura - nevi pigmentati Progeria - petite taille - naevi pigmentés Progeria - short stature - pigmented nevi Progeria - talla baja - nevi pigmentados Progerie - Kleinwuchs - Pigmentnaevi hrdo:pat_id_2673 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 219150 614438 C535990 neant Q87.8 2962 238826008 59252009 C0268354 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cutis laxa - Hornhauttrübung - geistige Retardierung Cutis laxa - corneal clouding - intellectual deficit Cutis laxa - opacidad corneal - déficit intelectual Cutis laxa - opacidade da córnea - atraso mental Cutis laxa - opacità corneale - ritardo mentale Cutis laxa - opacité cornéenne - déficit intellectuel De Barsy, síndrome Progerie-Syndrom vom Typ de Barsy Progeroid syndrome, De Barsy type Sindrome progeroide, tipo De Barsy Syndrome progéroïde type De Barsy Síndrome De Barsy Síndrome de Progeroid, tipo De Barsy De Barsy syndrome De Barsy-Syndrom Sindrome di De Barsy Syndrome de De Barsy Síndrome de De Barsy Síndrome progeróide tipo de Barsy hrdo:pat_id_2674 176700 K07.1 2964 malformation syndrome Autosomal dominant prognathism Prognathie, dominante Prognathisme autosomique dominant Prognatismo autosomico dominante Prognatismo dominante Prognatismo, dominante hrdo:pat_id_2675 158350 neant Q87.3 2969 disease Cohen-Hayden syndrome Cohen-Hayden, síndrome de Cohen-Hayden-Syndrom Sindrome di Cohen-Hayden Syndrome de Cohen-Hayden Síndrome de Cohen-Hayden Síndrome de Cohen-Hayden Proteus-like syndrome Proteus-ähnliches Syndrom - geistige Retardierung - Augendefekte Sindrome Proteus-simile Syndrome proteus-like Síndrome de tipo Proteus Síndrome proteus-like - atraso mental - anomalias oculares hrdo:pat_id_2676 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 177170 C535819 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Pseudoachondroplasia%5Bti%5D+OR+%28osteochondrodysplasias%5Bmajr%5D+Pseudoachondroplas*%29 Q77.8 750 22567005 C0410538 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Displasia espondiloepifisaria, pseudoacondroplásica Displasia pseudoacondroplasica Displasia pseudoacondroplásica Displasia spondiloepifisaria pseudoacondroplasica Dysplasie pseudoachondroplasique Dysplasie spondyloépiphysaire pseudoachondroplasique Pseudoachondroplastic dysplasia Pseudoachondroplastic spondyloepiphyseal dysplasia Pseudo-acondroplasia Pseudoachondroplasia Pseudoachondroplasie Pseudoachondroplasie Pseudoacondroplasia Pseudoacondroplasia hrdo:pat_id_2678 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 273050 C536952 C537496 2972 C1848903 C2931509 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome di Stoelinga-de Koomen-Davis Stoelinga-de Koomen-Davis syndrome Stoelinga-de Koomen-Davis, síndrome de Stoelinga-de-Koomen-Davis-Syndrom Syndrome de Stoelinga-de Koomen-Davis Síndrome de Stoelinga-de Koomen-Davis Síndrome de Stoelinga-de Koomen-Davis Dentes inclusos - hipoplasia maxilar - joelhos valgos Noneruption of teeth - maxillary hypoplasia - genu valgum Pseudo anodoncia - hipoplasia maxilar - genu valgum Pseudoanodontia - ipoplasia mascellare - ginocchio valgo Pseudoanodontie - hypoplasie maxillaire - genu valgum Pseudoanodontie -maxilläre Hypoplasie - Genu valgum hrdo:pat_id_2679 2973 malformation syndrome Female pseudohermaphrodism - anorectal anomalies Pseudoermafroditismo femminile - anomalie anorettali Pseudohermafroditismo femenino - anomalías anorectales Pseudohermaphrodisme féminin - anomalies ano-rectales Störung der Geschlechtsentwicklung (DSD) - ano-rektale Anomalien, bei 46,XX Karyotyp Weiblicher Pseudo-Hermaphroditismus - ano-rektale Anomalien 46,XX disorder of sex development - anorectal anomalies Anomalie du développement sexuel 46,XX - anomalies ano-rectales Disturbi dello sviluppo sessuale 46,XX - anomalie anorettali Intersexualität - ano-rektale Anomalien bei 46,XX Karyotyp Pseudo-hermafroditismo - anomalias ano-rectais Trastornos del desarrollo sexual 46,XX - anomalías anorectales hrdo:pat_id_268 Variabel Variabile Variable Variable Variable Variable Variável 143890 144010 602247 603776 603813 D006938 10045254 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hypercholesterolemia+familial%5Bmajr%5D E78.0 406 190773008 398036000 C0020445 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Hipercolesterolemia por deficiência no receptor das LDL Hipercolesterolemia por deficiência no recetor das LDL Hipercolesterolemia por déficit de receptor LDL Hypercholesterinämie durch LDL-Rezeptor-Defekt Ipercolesterolemia da difetto del recettore di LDL Familial hypercholesterolemia Hipercolesterolemia familiar Hipercolesterolemia familiar Hypercholesterinämie, familiäre Hypercholestérolémie familiale Ipercolesterolemia familiare hrdo:pat_id_2681 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis 264270 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Park+Jones+Melhem 2975 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Female pseudohermaphroditism - skeletal anomalies Pseudoermafroditismo femminile - anomalie scheletriche Pseudohermafroditismo femenino - anomalías esqueléticas Pseudohermaphrodisme féminin - anomalies squelettiques Störung der Geschlechtsentwicklung (DSD) - Skelettanomalien, bei 46,XX Karyotyp Weiblicher Pseudohermaphroditismus - Skelettanomalien 46,XX disorder of sex development - skeletal anomalies Anomalie du développement sexuel 46,XX - anomalies squelettiques Disturbi dello sviluppo sessuale 46,XX - anomalie scheletriche Intersexualität - Skelettanomalien, bei 46,XX Karyotyp Pseuso-hermafroditismo feminino - anomalias ósseas Trastornos del desarrollo sexual 46,XX - anomalías esqueléticas hrdo:pat_id_2682 169170 C536310 neant 2976 C1868546 malformation syndrome Patterson-Syndrom Pseudo leprechaunismo de Patterson Pseudo-Leprechaunismus Pseudoleprecaunismo di Patterson Pseudoleprechaunism syndrome, Patterson type Pseudolépréchaunisme de Patterson Síndrome de pseudo-leprechaunismo de Petterson hrdo:pat_id_2684 Variabel Variabile Variable Variable Variable Variable Variável 243180 300048 601223 609629 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Intestinal+Pseudo-Obstruction%5Bmh%5D+OR+(intestinal%5Bti%5D+(pseudoobstruction%5Bti%5D+OR+pseudo+obstruction%5Bti%5D)+idiopathic))+chronic K59.8 2978 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CIPO CIPO CIPO CIPO CIPO POIC Chronic intestinal pseudo-obstruction Pseudo-obstrucción intestinal crónica Pseudo-obstruction intestinale chronique Pseudo-oclusão intestinal crónica idiopática Pseudo-ostruzione intestinale cronica Pseudoobstruktion, idiopathische intestinale chronische hrdo:pat_id_2686 264475 neant Q87.0 2980 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Pseudo-oedème de la papille - blépharophimosis - main anormale Pseudopapiledema - blefarofimosis - anomalías de la mano Pseudopapilledema - blefarofimosi - anomalie delle mani Pseudopapilledema - blepharophimosis - hand anomalies Pseudopapillenödem - Blepharophimose - Anomalien der Hände Acro-oto-ocular syndrome Akro-oto-okuläres Syndrom Pseudo-papiledema - blefarofimose - anomalias das mãos Sindrome acro-oto-oculare Syndrome acro-oto-oculaire Síndrome acro-oto-ocular hrdo:pat_id_2688 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 200130 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=pseudoprogeria+hallermann+streiff 2985 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Absence de sourcils et cils - déficit intellectuel Assenza delle sopracciglia e delle ciglia - ritardo mentale Augenbrauen und Lider, fehlende - geistige Retardierung Ausencia cejas y pestañas - déficit intelectual Ausência de sobrancelhas e pestanas - atraso mental Eyebrows and eyelashes absence - intellectual deficit Hal-Berg-Rudolph syndrome Hal-Berg-Rudolph, síndrome de Hal-Berg-Rudolph-Syndrom Sindrome di Hal-Berg-Rudolph Syndrome de Hal-Berg-Rudolph Síndrome de Hal-Berg-Rudolph Síndrome de Hal-Berg-Rudolph Pseudoprogeria Pseudoprogeria Pseudoprogeria Pseudoprogeria syndrome Pseudoprogeria-Syndrom Síndrome de pseudo-progeria hrdo:pat_id_2689 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 178200 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=%22antecubital+pterygium%22 2987 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Antecubital pterygium syndrome Pterygium-Syndrom, antekubitales Sindrome da pterigio antecubitale Syndrome du pterygium antécubital Síndrome de pterygium antecubital Síndrome pterígio antecubital hrdo:pat_id_2690 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 600159 neant Q87.0 2988 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Khalifa-Graham syndrome Khalifa-Graham, síndrome de Khalifa-Graham-Syndrom Sindrome di Khalifa-Graham Syndrome de Khalifa-Graham Síndrome de Khalifa-Graham Pterigio del collo - ritardo mentale - anomalie delle dita Pterygium colli - Intelligenzminderung - Fingeranomalien Pterygium colli - déficit intelectual - anomalías digitales Pterygium colli - déficit intellectuel - anomalies des doigts Pterygium colli - intellectual deficit - digital anomalies Pterígio do pescoço - atraso mental - anomalias dos dedos hrdo:pat_id_2691 178000 2989 morphological anomaly Pterigio della congiuntiva, forma familiare Pterygium conjunctivae, familiäre Form Pterygium de la conjuntiva Pterygium familial de la conjonctive Pterygium of the conjunctiva, familial form Pterígio da conjuntiva hrdo:pat_id_2692 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 265000 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%28pterygi*+OR+abnormalities%2C+multiple%29+escobar%5Bti%5D%29+OR+multiple+pterygi*%5Bti%5D+NOT+lethal Q79.8 2990 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Autosomal recessive non-lethal multiple pterygium syndrome EVMPS EVMPS Escobar syndrome Escobar variant multiple pterygium syndrome Syndrome d'Escobar Syndrome des pterygiums multiples autosomique récessif non létal Autosomal recessive multiple pterygium syndrome Multiples Pterygium-Syndrom, autosomal-rezessives Sindrome da pterigi multipli, autosomica recessiva Syndrome des pterygiums multiples autosomique récessif Síndrome de pterigium múltiple autosómico recesivo Síndrome de pterígios múltiplos autossómico recessivo hrdo:pat_id_2697 193240 2997 malformation syndrome Sindrome di Tucker Syndrome de Tucker Síndrome de Tucker Síndrome de Tucker Tucker syndrome Tucker, síndrome de Tucker-Syndrom Ptose - parésia das cordas vocais Ptosi - paralisi delle corde vocali Ptosis - paralysie des cordes vocales Ptosis - parálisis de las cuerdas vocales Ptosis - vocal cord paralysis Ptosis, Stimmbandlähmung hrdo:pat_id_2698 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 265050 2998 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Carnevale-Krajewska-Fischetto syndrome Carnevale-Krajewska-Fischetto, síndrome de Carnevale-Krajewska-Fischetto-Syndrom Mingarelli syndrome Mingarelli-Syndrom OSA syndrome OSA-Syndrom Oculo-skeletal-abdominal syndrome Okulo-skeletal-abdominales Syndrom Ptosi - strabismo - diastasi dei retti addominali Ptosis - Strabismus - Rectus abdominis-Diastase Ptosis - estrabismo - diástasis del recto abdominal Ptosis - strabisme - diastasis des grands droits Ptosis - strabismus - rectus abdominis diastasis Sindrome OSA Sindrome di Carnevale-Krajewska-Fischetto Sindrome di Mingarelli Sindrome oculo-scheletro-addominale Syndrome OSA Syndrome de Carnevale-Krajewska-Fischetto Syndrome de Mingarelli Syndrome oculo-squeletto-abdominal Síndrome OSA Síndrome de Carnevale-Krajewska-Fischetto Síndrome de Carnevale-Krajewska-Fischetto Síndrome de Mingarelli Síndrome oculo-esquelético-abdominal Carnevale syndrome Carnevale-Syndrom Ptose - estrabismo - diástase dos rectos Sindrome di Carnevale Syndrome de Carnevale Síndrome de Carnevale hrdo:pat_id_2699 Variabel Variabile Variable Variable Variable Variable Variável 178330 2999 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 McPherson-Hall syndrome McPherson-Robertson-Cammarano, síndrome de Mcpherson-Hall-Syndrom Ptosis - strabisme - correctopie Sindrome di McPherson-Hall Syndrome de McPherson-Hall Síndrome de McPherson-Robertson-Cammarano Síndrome de Mcpherson-Hall Ptose - estrabismo - pupilas ectópicas Ptosi - strabismo - pupille ectopiche Ptosis - Strabismus - ektopische Pupillen Ptosis - estrabismo - pupilas ectópicas Ptosis - strabisme - pupilles ectopiques Ptosis - strabismus - ectopic pupils hrdo:pat_id_27 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 252500 C538602 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(mucolipidosis+ii%5Btw%5D+OR+MLii%5Btw%5D+OR+i-cell%5Btw%5D+OR+type+2%5Bti%5D)+(mucolipidoses%5Bmh%5D+OR+mucolipidosis%5Bti%5D) E77.0 576 70199000 C0020725 C2931894 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Células de inclusão, doença de Deficit di N-acetilglucosamina-1-fosfotransferasi Deficiência de N-acetil-glucosamina 1-fosfotransferase Doença de I-cell Doença de células de inclusão Déficit de N-acetilglucosamina-1-fosforiltransferasa Déficit en N-acétylglucosamine-1-phosphotransférase Enfermedad de células de inclusión I-Zell-Krankheit I-cell disease I-cell, doença de Maladie des cellules à inclusions Malattia delle cellule incluse N-Acetylglukosamin-1-Phosphotransferase-Mangel N-acetil-glucosamina 1-fosfotransferase, deficiência de N-acetyl-glucosamine 1-phosphotransferase deficiency Mucolipidose tipo 2 Mucolipidose type 2 Mucolipidosi, tipo 2 Mucolipidosis tipo 2 Mucolipidosis type 2 Mukolipidose Typ 2 hrdo:pat_id_2701 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 265880 C536251 neant Q77.0 3003 C1849523 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Camera's syndrome Camera-Syndrom Syndrome de Camera Picnoacondrogenesi Picnoacondrogénese Picnoacondrogénesis Pycnoachondrogénèse Pyknoachondrogenesie Pyknoachondrogenesis hrdo:pat_id_2702 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=polydactyly+vertebral+hypersegmentation+limb+defects Q87.2 3004 malformation syndrome 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Síndrome de Urioste-Martinez-Frias Urioste-Martinez-Frias, síndrome de Mirror polydactyly - vertebral segmentation - limbs defects Polidactilia em espelho - defeitos de segmentação e dos membros Polidactilia en espejo - segmentación vertebral- anomalías de los miembros Polidattilia a specchio - segmentazione vertebrale - anomalie degli arti Polydactylie en miroir - segmentation vertébrale - anomalies des membres Polydaktylie, spiegelbildliche - vertebrale Segmentierungsdefekte - Extremitätenanomalien hrdo:pat_id_2703 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 265900 C536252 Q78.5 3005 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia metafisaria di Pyle Displasia metafisária tipo Pyle Dysplasie métaphysaire de Pyle Metaphyseal dysplasia, Pyle type Pyle-Syndrom Doença de Pyle Enfermedad de Pyle Maladie de Pyle Malattia di Pyle Pyle disease Pyle-Krankheit hrdo:pat_id_2705 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 600096 C536259 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Qazi+markouizos+rao 3010 C2931142 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dysharmonic skeletal maturation - muscular fibre disproportion Dysharmonische Skelettreifung - Muskelfaser-Disproportion   Maduración ósea disharmónica - fibras musculares anormales Maturation osseuse dysharmonieuse - fibres musculaires anormales Maturação óssea assimétrica - desproporção das fibras musculares Maturação óssea assimétrica - disproporção das fibras musculares Mutazione ossea disarmonica - anomalie delle fibre muscolari Qazi-Markouizos syndrome Qazi-Markouizos-Syndrom Sindrome di Qazi-Markouizos Syndrome de Qazi-Markouizos Síndrome de Qazi-Markouizos Síndrome de Qazi-Markouizos hrdo:pat_id_2706 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 270950 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=quadriparesis+Spastic+retinitis+pigmentosa+mental+retardation+hearing+loss 3011 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cuadriplejía espástica - retinosis pigmentaria - déficit intelectual Quadriplegia spastica - retinite pigmentosa - deficit cognitivo Quadriplégie - déficit intellectuel - rétinite pigmentaire Spastic quadriplegia - retinitis pigmentosa - intellectual deficit Spastic tetraplegia - retinitis pigmentosa - intellectual deficit Spastische Tetraparese - Retinitis pigmentosa - geistige Retardierung Tetraplegia espástica - retinite pigmentosa - atraso mental Tetraplegia spastica - retinite pigmentosa - deficit cognitivo Tetraplejía espástica - retinosis pigmentaria - déficit intelectual Tétraplégie spastique - déficit intellectuel - rétinite pigmentaire hrdo:pat_id_2707 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 262190 D056731 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Rabson+Mendenhall+syndrome+OR+%28pineal+hyperplasia+AND+insulin-resistant+diabetes%29 E13 769 33559001 C0271695 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Rabson-Mendenhall syndrome Rabson-Mendenhall-Syndrom Sindrome di Rabson-Mendenhall Syndrome de Rabson-Mendenhall Síndrome de Rabson-Mendenhall Síndrome de Rabson-Mendenhall hrdo:pat_id_2710 179280 C536267 3015 C2931146 malformation syndrome Radio-renal syndrome Radio-renales Syndrom Sindrome radio-renale Syndrome radio-rénal Síndrome radio-renal Síndrome radio-renal hrdo:pat_id_2711 312190 C535281 3016 C1839410 malformation syndrome Absence de radius - anomalies ano-génitales Agenesia del radio - anomalie anogenitali Ausencia de radio - anomalías ano-genitales Ausência de rádio - anomalias ano-genitais Radius absent - anogenital anomalies Radius, fehlender, mit anogenitalen Anomalien hrdo:pat_id_2713 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 259775 neant Q78.2 1832 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Raine syndrome Raine, síndrome de Raine-Syndrom Sindrome di Raine Syndrome de Raine Síndrome de Raine Síndrome de Raine Displasia letal osteosclerótica de hueso Displasia osteosclerotica letale dell'osso Displasia óssea osteosclerótica letal Dysplasie osseuse ostéosclérotique létale Knochendysplasie, osteosklerotische, letale Form Lethal osteosclerotic bone dysplasia hrdo:pat_id_2714 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 277175 C535283 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Rambaud+Galian+Touchard+Matuchansky 3018 C2930864 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Rambaud-Gallian syndrome Rambaud-Gallian-Touchard syndrome Rambaud-Gallian-Touchard-Syndrom Syndrome de Rambaud-Gallian Syndrome de Rambaud-Gallian-Touchard Rambaud-Galian-Syndrom Retinal ischemic syndrome - digestive tract small vessel hyalinosis - diffuse cerebral calcifications Rétinopathie ischémique - hyalinose digestive - calcifications cérébrales diffuses Sindrome di Rambaud-Gallian-Touchard Síndrome de Rambaud-Galian Síndrome de Rambaud-Galian hrdo:pat_id_2715 266270 C535285 neant Q87.8 3019 C0796133 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Cherubinismo - fibromatosi gengivale - ritardo mentale Cherubinismus mit gingivaler Fibromatose und mentaler Retardierung Cherubism - gingival fibromatosis - intellectual deficit Chérubinisme - fibromatose gingivale - déficit intellectuel Querubismo - fibromatose gengivar - atraso mental Querubismo - fibromatosis gingival - déficit intelectual Ramon syndrome Ramon-Syndrom Sindrome di Ramon Syndrome de Ramon Síndrome de Ramon Síndrome de Ramon hrdo:pat_id_2716 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 266280 C535288 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=RAPADILINO+syndrome Q87.1 3021 C1849453 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 RAPADILINO syndrome RAPADILINO-Syndrom Sindrome RAPADILINO Syndrome RAPADILINO Síndrome RAPADILINO Síndrome RAPADILINO hrdo:pat_id_2717 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 129400 C535289 neant 3022 7731005 C1785148 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Anhidrotic ectodermic dysplasia - cleft lip/palate Displasia ectodermica anidrotica - schisi labiale Displasia ectodérmica anidrótica - fenda labial Dysplasie ectodermique anhidrotique - fente labiale/palatine Dysplasie, anhidrotische ektodermale, mit Lippenspalte Ectodermal dysplasia syndrome, Rapp-Hodgkin type Ectodermal dysplasia, Rapp-Hodgkin type Ectodermie dysplasique type Rapp-Hodgkin RHS Rapp-Hodgkin syndrome Rapp-Hodgkin-Syndrom Sindrome di Rapp-Hodgkin Syndrome de Rapp-Hodgkin Síndrome de Rapp-Hodgkin Síndrome de Rapp-Hodgkin hrdo:pat_id_2718 133705 C535290 3023 C2930867 malformation syndrome Rasmussen-Johnsen-Thomsen syndrome Rasmussen-Johnsen-Thomsen-Syndrom Sindrome di Rasmussen-Johnsen-Thomsen Syndrome de Rasmussen-Johnsen-Thomsen Síndrome de Rasmussen-Johnsen-Thomsen Síndrome de Rasmussen-Johnsen-Thomsen hrdo:pat_id_2720 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 179270 C536263 C537280 3026 232373003 C0339838 C2931464 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Goldblatt-Viljoen syndrome Goldblatt-Viljoen, síndrome de Goldblatt-Viljoen-Syndrom Sindrome di Goldblatt-Viljoen Syndrome de Goldblatt-Viljoen Síndrome de Goldblatt-Viljoen Síndrome de Goldblatt-Viljoen Hipoplasia del eje radial - atresia de coanas Hipoplasia do eixo radial - atresia das coanas Hypoplasie du rayon radial - atrésie des choanes Ipoplasia del radio - atresia delle coane Radial ray hypoplasia - choanal atresia Radiushypoplasie - Choanalatresie hrdo:pat_id_2722 Variabel Variabile Variable Variable Variable Variable Variável 10020393 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Horseshoe+kidney%5Bti%5D Q63.1 3029 41729002 C0221353 morphological anomaly >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Horseshoe kidney Hufeisenniere Rein en fer à cheval Rene a ferro di cavallo Rim em ferradura Riñón en herradura hrdo:pat_id_2725 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 267010 neant 3032 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia renal-hepática-pancreática - quistes de Dandy-Walker Displasia renale-epatico-pancreatica - cisti di Dandy-Walker Dysplasie réno-hépato-pancréatique - kystes de Dandy-Walker Goldston syndrome Goldston syndrome Goldston-Syndrom Meckel syndrome type 7 Meckel-Syndrom Typ 7 Meckel-like syndrome type 1 Meckel-like, síndrome Meckel-ähnliches-Syndrom Typ 1 Nieren-Leber-Pankreas-Dysplasie - Dandy-Walker Zysten Renal-hepatic-pancreatic dysplasia - Dandy-Walker cysts Sindrome di Goldston Sindrome di Meckel, tipo 7 Sindrome simil-Meckel, tipo 1 Syndrome Meckel-like type 1 Syndrome de Goldston Syndrome de Meckel type 7 Síndrome Meckel-like Síndrome Meckel-like de tipo 1 Síndrome de Goldston Síndrome de Goldston Síndrome de Meckel tipo 7 Displasia nefro-hepato-pancreática - quistos Dandy-Walker NPHP3-assoziiertes Meckel-ähnliches Syndrom NPHP3-related Meckel-like syndrome Sindrome simil-Meckel legata a NPHP3 Syndrome Meckel-like associé à NPHP3 Síndrome tipo Meckel asociado a NPHP3 hrdo:pat_id_2726 neant Q63.8 3033 malformation syndrome Disgenesia dei tubuli renali Disgenesia renal tubular Disgenesia tubular renal Dysgenesie, renale tubuläre Dysgénésie tubulaire rénale Renal tubular dysgenesis hrdo:pat_id_2728 155980 neant Q75.8 3034 malformation syndrome Gonzales-del Angel syndrome Gonzales-del Angel, síndrome de Gonzales-del-Angel-Syndrom Sindrome di Gonzales-del Angel Syndrome de Gonzales-del Angel Síndrome de Gonzales-del Angel Síndrome de Gonzales-del Ángel Atraso na ossificação membranosa craniana Delayed membranous cranial ossification Ossifikationsverzögerung des Schädels, membranöse Retard d'ossification du crâne membraneux Retraso de osificación de cráneo membranoso Ritardo di ossificazione del cranio membranoso hrdo:pat_id_2729 236640 3035 malformation syndrome Game-Friedman-Paradice syndrome Game-Friedman-Paradice, síndrome de Game-Friedman-Paradice-Syndrom Sindrome di Game-Friedman-Paradice Syndrome de Game-Friedman-Paradice Síndrome de Game-Friedman-Paradice Síndrome de Game-Friedman-Paradice Atraso de crescimento - hidrocefalia - hipoplasia pulmonar Growth delay - hydrocephaly - lung hypoplasia Retard de croissance - hydrocéphalie - hypoplasie pulmonaire Retraso de crecimiento - hidrocefalia - hipoplasia pulmonar Ritardo della crescita - idrocefalo - ipoplasia dei polmoni Wachstumsretardierung - Hydrozephalie - Lungenhypoplasie hrdo:pat_id_2730 3036 Fernhoff-Blackston-Oakley syndrome Fernhoff-Blackston-Oakley, síndrome de Fernhott-Blackston-Oakley-Syndrom Sindrome di Fernhott-Blackston-Oakley Syndrome de Fernhott-Blackston-Oakley Síndrome de Fernhoff-Blackston-Oakley Síndrome de Fernhott-Blackston-Oakley Atraso do crescimento intrauterino - hipoplasia malar e mandibular Intrauterine growth retardation - mandibular malar hypoplasia Retard de croissance - hypoplasie malaire - micrognathisme Retraso de crecimiento - hipoplasia malar - micrognatia Ritardo della crescita - ipoplasia malare - micrognazia Wachstumsretardierung, intrauterine - malare Hypoplasie - Mikrognathie hrdo:pat_id_2732 182875 neant Q87.0 3038 malformation syndrome Mehes syndrome Mehes, síndrome de Mehes-Syndrom Sindrome di Mehes Syndrome de Mehes Síndrome de Mehes Atraso da linguagem - assimetria facial - estrabismo - sulcos no lóbulo auricular Delayed speech - facial asymmetry - strabismus - ear lobe creases Linguaggio ritardato - asimmetria facciale - strabismo - pieghe sul lobo dell'orecchio Retard de langage - asymétrie faciale - strabisme - incisure du lobe de l'oreille Retraso del habla - asimetría facial - estrabismo - incisura de lóbulo auditivo Verzögerte Sprachentwicklung - Gesichtsasymmetrie - Strabismus - Ohrmuscheldefekte hrdo:pat_id_2734 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 181515 neant Q87.8 3041 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Scholte-Begeer-van Essen syndrome Scholte-Begeer-van Essen, síndrome de Sindrome di Scholte-Begeer-Van Essen Syndrome de Scholte-Begeer-van Essen Síndrome de Scholte-Begeer-van Essen Atraso mental - alopecia do couro cabeludo - luxação da rótula - acromicria Déficit intelectual - calvicie - luxación de rótula - acromicria Déficit intellectuel - calvitie - luxation de la rotule - acromicrie Geistige Retardierung - Glatzenbildung - Patellaluxation - Akromikrie Intellectual deficit - balding - patella luxation - acromicria Ritardo mentale - calvizie - lussazione della rotula - acromicria hrdo:pat_id_2735 259050 3042 malformation syndrome Primerose syndrome Primrose, síndrome de Primrose-Syndrom Sindrome di Primrose Syndrome de Primrose Síndrome de Primrose Atraso mental - cataratas - calcificações das cartilagens auriculares - miopatia Déficit intelectual - cataratas - pabellón auditivo calcificado - miopatía Déficit intellectuel - cataracte - calcification du pavillon auriculaire - myopathie Geistige Retardierung - Katarakt - kalzifizierte Ohrknorpel - Myopathie Intellectual deficit - cataracts - calcified pinnae - myopathy Ritardo mentale - cataratta - calcificazione del padiglione dell'orecchio - miopatia hrdo:pat_id_2736 3043 malformation syndrome Morillo Cucci-Passarge syndrome Morillo-Cucci-Passarge, síndrome de Morillo-Cucci-Passarge-Syndrom Sindrome di Morillo-Cucci-Passarge Syndrome de Morillo-Cucci-Passarge Síndrome de Morillo-Cucci-Passarge Atraso mental - face peculiar Déficit intelectual - dismorfia - hiperlaxitud Déficit intellectuel - dysmorphie - hyperlaxité Geistige Retardierung - ungewöhnliche Fazies Intellectual deficit - unusual facies Ritardo mentale - dismorfismi - iperlassità hrdo:pat_id_2737 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 249599 3044 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso mental - dismorfias - hipogonadismo - diabetes mellitus Déficit intelectual - dismorfia - hipogonadismo - diabetes mellitus Déficit intellectuel - dysmorphie - hypogonadisme - diabète sucré Geistige Retardierung - Dysmorphien - Hypogonadismus - Diabetes mellitus Intellectual deficit - dysmorphism - hypogonadism - diabetes mellitus Ritardo mentale - dismorfismi - ipogonadismo - diabete mellito hrdo:pat_id_2738 3046 malformation syndrome Davis-Lafer syndrome Davis-Lafer, syndrome de Davis-Lafer, síndrome de Davis-Lafer-Syndrom Sindrome di Davis-Lafer Síndrome de Davis-Lafer Atraso mental - face peculiar tipo Davis-Lafer Déficit intelectual - anomalías faciales, tipo Davis-Lafer Déficit intellectuel - faciès anormal, type Davis-Lafer Geistige Retardierung - Gesichtsanomalien, Typ Davis-Lafer Intellectual deficit-unusual facies, Davis-Lafer type Ritardo mentale-anomalie facciali, tipo Davis Lafer hrdo:pat_id_2739 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 603736 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Hypothyroidism%5Bti%5D+(facies+OR+face%2Fab)+mental+retard*+OR+Young%25Simpson+syndrome 3047 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hipotiroidismo - dismorfismo - polidactilia postaxial - déficit intelectual Hypothyreose - Dysmorphien - postaxiale Polydaktylie - Intelligenzminderung Hypothyroidism - dysmorphism - postaxial polydactyly - intellectual deficit Hypothyroïdie - dysmorphie - polydactylie post-axiale - déficit intellectuel Ipotiroidismo - dismorfismi - polidattilia postassiale - deficit cognitivo Síndrome de Young-Simpson Young-Simpson, síndrome de Atraso mental - face peculiar - hipotiroidismo Blepharophimose-Intelligenzminderung, Typ SBBYS Blepharophimosis-intellectual deficit syndrome, SBBYS type Sindrome blefarofimosi-deficit cognitivo, tipo SBBYS Syndrome de blépharophimosis-déficit intéllectuel type SBBYS Síndrome de blefarofimosis-déficit intelectual, tipo SBBYS hrdo:pat_id_2740 3050 disease Medrano-Roldan syndrome Medrano-Roldan, síndrome de Medrano-Roldan-Syndrom Sindrome di Medrano-Roldan Syndrome de Medrano-Roldan Síndrome de Medrano-Roldan Atraso mental - hipotonia - hiperpigmentação cutânea Déficit intelectual - hipotonia - hiperpigmentación Déficit intellectuel - hypotonie - hyperpigmentation Geistige Retardierung - Hypotonie - Hyperpigmentierung der Haut Intellectual deficit - hypotonia - skin hyperpigmentation Ritardo mentale - ipotonia - iperpigmentazione hrdo:pat_id_2741 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 309480 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=X+linked+Mental+retardation+seizures+psoriasis 3052 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome di Tranebjaerg-Svejgaard Syndrome de Tranebjaerg-Svejgaard Síndrome de Tranebjaerg-Svejgaard Tranebjaerg-Svejgaard syndrome Tranebjaerg-Svejgaard, síndrome de Tranebjaerg-Svejgaard-Syndrom Atraso mental ligado ao X tipo Tranebjaerg - epilepsia - psoríase Déficit intelectual ligado al X - epilepsia - psoriasis Déficit intellectuel lié à l'X - épilepsie - psoriasis Geistige Retardierung, X-chromosomale - Krämpfe - Psoriasis Intellectual deficit, X-linked - seizures - psoriasis Ritardo mentale legato all'X - epilessia - psoriasi hrdo:pat_id_2744 775 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome Atraso mental ligado ao X tipo Martinez Déficit intelectual ligado al X tipo Martinez Déficit intellectuel lié à l'X type Martinez Geistige Retardierung, X-chromosomale, Typ Martinez Intellectual deficit, X-linked, Martinez type Ritardo mentale legato all'X, tipo Martinez hrdo:pat_id_2745 3055 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome Sindrome di Young-Hughes Syndrome de Young-Hughes Síndrome de Young-Hugues Young-Hughes-Syndrom Young-Hugues syndrome Young-Hugues, síndrome de Atraso mental ligado ao X - baixa estatura - obesidade Déficit intelectual ligado al X - talla baja - obesidad Déficit intellectuel lié à l'X - petite taille - obésité Geistige Retardierung, X-chromosomale - Kleinwuchs - Adipositas Intellectual deficit, X-linked - short stature - obesity Ritardo mentale legato all'X - bassa statura - obesità hrdo:pat_id_2746 300612 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28brooks%5B1au%5D+OR+brooks%5Btw%5D%29+wisniewski+Brown 3056 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Atraso mental ligado ao X tipo Brooks Déficit intelectual ligado al X tipo Brooks Déficit intellectuel lié à l'X type Brooks Geistige Retardierung, X-chromosomale, Typ Brooks Intellectual deficit, X-linked, Brooks type Ritardo mentale legato all'X, tipo Brooks hrdo:pat_id_2747 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 300615 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Monoamine+oxidase+A%5Btw%5D+OR+maoa%29+%28deficiency+OR+Monoamine+oxidase/df%29+humans+OR+Brunner+syndrome%5Btw%5D E70.8 F54 3057 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficit di monoamina-ossidasi A Deficiência de monoamina oxidase A Déficit de monoamina oxidasa A Déficit en monoamineoxydase Monoamine oxidase-A deficiency Monoamino-Oxidase-A-Mangel hrdo:pat_id_2748 3059 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease MRX35 MRX35 MRX35 MRX35 Mrx35 Atraso mental ligado ao X tipo Gu Déficit intelectual ligado al X tipo Gu Déficit intellectuel lié à l'X type Gu Geistige Retardierung, X-chromosomale, Typ Gu Intellectual deficit, X-linked, Gu type Ritardo mentale legato all'X, tipo Gu hrdo:pat_id_275 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 300635 308240 D008232 10068348 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28lymphoproliferative%5Bti%5D+x+linked%5Btw%5D%29+OR+lymphoproliferative+disorders%5Bmh%3Anoexp%5D D82.3 2442 77121009 C0549463 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Duncan disease Enfermedad de Duncan Maladie de Duncan Malattia di Duncan Purtilo syndrome Purtilo, síndrome de Sindrome di Purtilo Syndrome de Purtilo Síndrome de Purtilo Síndrome de Purtilo X-chromosomales lymphoproliferatives Syndrom XLP XLP XLP XLP Doença linfoproliferativa ligada ao X Enfermedad linfoproliferativa ligada al X Lymphoproliferative Krankheit, X-chromosomale Maladie lymphoproliférative liée à l'X Malattia linfoproliferativa legata all'X X-linked lymphoproliferative disease hrdo:pat_id_2750 3061 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Atraso mental ligado ao X tipo Raynaud Déficit intelectual ligado al X tipo Raynaud Déficit intellectuel lié à l'X type Raynaud Geistige Retardierung, X-chromosomale, Typ Raynaud Intellectual deficit, X-linked, Raynaud type Ritardo mentale legato all'X, tipo Raynaud hrdo:pat_id_2751 3062 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Atraso mental ligado ao X tipo Schutz Déficit intelectual ligado al X tipo Schutz Déficit intellectuel lié à l'X type Schutz Geistige Retardierung, X-chromosomale, Typ Schütz Intellectual deficit, X-linked, Schutz type Ritardo mentale legato all'X, tipo Schutz hrdo:pat_id_2752 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 309583 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28X+linked+OR+sex-linked%29+AND+%28mental+retardation+AND+snyder%29 3063 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome di Snyder-Robinson Snyder-Robinson syndrome Snyder-Robinson-Syndrom Syndrome de Snyder-Robinson Atraso mental ligado ao X tipo Snyder Déficit intelectual ligado al X, tipo Snyder Déficit intellectuel lié à l'X type Snyder Geistige Retardierung, X-chromosomale, Typ Snyder Intellectual deficit, X-linked, Snyder type Ritardo mentale legato all'X, tipo Snyder hrdo:pat_id_2753 3064 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Atraso mental ligado ao X tipo Wittner Déficit intelectual ligado al X tipo Wittner Déficit intellectuel lié à l'X type Wittner Geistige Retardierung, X-chromosomale, Typ Wittner Intellectual deficit, X-linked, Wittner type Ritardo mentale legato all'X, tipo Wittner hrdo:pat_id_2754 neant 3065 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Atraso mental ligeiro ligado ao X - anomalias do metabolismo da MAOA Déficit intelectual ligado al X - anomalía de Maoa Déficit intellectuel lié à l'X - anomalie du métabolisme de la monoamine oxydase A Geistige Retardierung, X-chromosomale - Anomalien des MAOA-Metabolismus Intellectual deficit, X-linked - monoamine oxidase A metabolism anomaly Ritardo mentale legato all'X - anomalia del metabolismo della monoaminossidasi A hrdo:pat_id_2756 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=mental+retardation+microcephaly+phalangeal+heart+defects 3067 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso mental - microcefalia - anomalias falângicas e faciais Déficit intelectual - microcefalia - anomalías falángicas y faciales Déficit intellectuel - microcéphalie - anomalies phalangiennes et faciales Geistige Retardierung - Mikrozephalie - Anomalien des Gesichtes und der Phalangen Intellectual deficit - microcephaly - phalangeal - facial abnormalities Ritardo mentale - microcefalia - anomalie falangeali e facciali hrdo:pat_id_2757 253320 neant 3068 disease Chudley-Rozdilsky syndrome Chudley-Rozdilsky, síndrome de Chudley-Rozdilsky-Syndrome Sindrome di Chudley-Rozdilsky Syndrome de Chudley-Rozdilsky Síndrome de Chudley-Rozdilsky Atraso mental - miopatia - baixa estatura - alterações endócrinas Déficit intelectual - miopatía - talla baja - defecto endocrino Déficit intellectuel - myopathie - petite taille - défaut endocrinien Geistige Retardierung - Myopathie - Kleinwuchs - endokrine Störung Intellectual deficit - myopathy - short stature - endocrine defect Ritardo mentale - miopatia - bassa statura - difetto endocrino hrdo:pat_id_276 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 212750 607202 609753 609754 609755 611598 612005 612006 612007 612008 612009 612010 612011 D002446 10009839 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=celiac+disease%5BText+Word%5D+OR+coeliac+disease%5BText+Word%5D+OR+%22celiac+disease%22%5BMeSH+Terms%5D K90.0 555 396331005 C0007570 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 CD CD CD CD Celiac sprue Coeliac disease Coeliac sprue EC Enteropathie, Gluten-sensitive Enteropatia glúten-sensível Enteropatia indotta dal glutine Enteropatia induzida por glúten Enteropatia sensibile al glutine Enteropatía inducida por gluten Enteropatía sensible al gluten Entéropathie sensible au gluten Esprúe celíaco Esprúe no tropical Esteatorrea idiopática Gluten intolerance Gluten-induced enteropathy Gluten-sensitive enteropathy Glutenunverträglichkeit Idiopathic steatorrhea Intolerancia al gluten Intolleranza al glutine Intolérance au gluten MC Malattia celiaca Nicht-tropische Sprue   Nontropical sprue Sprue celiaca Sprue coeliaque Sprue non tropicale Sprue non-tropicale Steatorrea idiopatica Steatorrhoe, idiopathische Stéatorrhée idiopathique Celiac disease Celiachia Doença celíaca Enfermedad celiaca Maladie coeliaque Zöliakie hrdo:pat_id_2764 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 300055 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Mental+retardation+psychosis+macroorchidism+OR+ppm+x%5Bti%5D F71.1 3077 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Lindsay-Burn syndrome Lindsay-Burn, síndrome de Lindsay-Burn-Syndrom PPM-X PPM-X PPM-X Sindrome di Lindsay-Burn Syndrome de Lindsay-Burn Síndrome de Lindsay-Burn Atraso mental ligado ao X - psicose - macroorquidia Déficit intelectual ligado al X - psicosis - macroorquidismo Déficit intellectuel lié à l'X - psychose - macroorchidisme Geistige Retardierung, X-chromosomale - Psychose - Makroorchidie Intellectual deficit, X-linked - psychosis - macroorchidism Ritardo mentale legato all'X - psicosi - macroorchidismo hrdo:pat_id_2765 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 309555 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=mental+retardation+impaired+vision+hearing+epileptic+seizures+spasticity+joint+mobility F72.9 3078 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso mental grave ligado ao X tipo Gustavson Déficit intelectual grave ligado al X, tipo Gustavson Déficit intellectuel sévère lié à l'X type Gustavson Geistige Retardierung, schwere X-chromosomale, Typ Gustavson Ritardo mentale grave legato all'X, tipo Gustavson Severe X-linked intellectual deficit, Gustavson type hrdo:pat_id_2766 249630 neant Q87.8 3079 malformation syndrome Mutchinick syndrome Mutchinick-Syndrom Sindrome di Mutchinick Syndrome de Mutchinick Atraso mental tipo Buenos Aires Déficit intelectual, tipo Buenos Aires Déficit intellectuel type Buenos-Aires Intellectual deficit, Buenos-Aires type Intelligenzminderung, Buenos-Aires Typ Ritardo mentale, tipo Buenos Aires hrdo:pat_id_2767 277990 neant Q87.0 3080 malformation syndrome Sindrome di Wolff-Zimmermann Syndrome de Wolff-Zimmermann Síndrome de Wolff-Zimmermann Wolff-Zimmermann syndrome Wolff-Zimmermann, síndrome de Wolff-Zimmermann-Syndrom Atraso mental tipo Wolff Déficit intelectual, tipo Wolff Déficit intellectuel type Wolff Geistige Retardierung Typ Wolff Intellectual deficit, Wolff type Ritardo mentale, tipo Wolff hrdo:pat_id_2769 193220 C536352 neant H35.5 3086 disease ADVIRC ADVIRC ADVIRC ADVIRC ADVIRC Autosomal dominant vitreoretinochoroidopathy Retinocoroidopatía vítrea autosómica dominante Vitreo-retino-coroidopatia, dominante Vitreoretinochoroidopathie, autosomal dominante Vitreoretinocoroidopatia autosomica dominante Vitréorétinochoroïdopathie autosomique dominante hrdo:pat_id_277 Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Mitochondrial+Diseases+(Oxidative+Phosphorylation%5Bmh%5D+OR+Mitochondrial+Proteins%5Bmh%3Anoexp%5D+OR+(%22complex+V%22+Mitochondrial+ATP+Synthase%2Fge)) 2443 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Anomalie de la phosphorylation oxydative mitochondriale due à des anomalies de l'ADNn Disturbo della fosforilazione ossidativa mitocondriale da difetti del nDNA Enfermedad OXPHOS debido a anomalías del ADN nuclear Maladie OXPHOS due à des anomalies de l'ADN nucléaire Maladie OXPHOS due à des anomalies de l'ADNn Malattia OXPHOS da difetti del DNA nucleare Malattia OXPHOS da difetti del nDNA Mitochondrial oxidative phosphorylation disorder due to nDNA anomalies OXPHOS disease due to nDNA anomalies OXPHOS disease due to nuclear DNA anomalies Anomalie de la phosphorylation oxydative mitochondriale due à des anomalies de l'ADN nucléaire Disturbo della fosforilazione ossidativa mitocondriale da difetti del DNA nucleare Doenças mitocondriais de origem nuclear (termo genérico) Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies Mitochondriale Krankheiten, nukleären Ursprungs Trastorno de la fosforilación oxidativa mitocondrial debido a anomalías del ADN nuclear hrdo:pat_id_2770 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 268040 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=progressive+cone+dystrophy+degenerative+liver+diseases+endocrine+dysfunction 3087 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hansen-Larsen-Berg-Syndrom Retino hepato endocrinológico síndrome Retino-hepato-endokrinologisches Syndrom Retinohepatoendocrinologic syndrome Sindrome retino-epato-endocrinologica Syndrome rétino-hépato-endocrinologique Síndrome retino-hepato-endocrinológico hrdo:pat_id_2771 268130 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Revesz+syndrome+retinal+diseases+Retinopathy+anemia 3088 malformation syndrome Revesz-Debuse syndrome Revesz-Debuse, síndrome de Revesz-Debuse-Syndrom Rétinopathie - anémie - anomalies du SNC Sindrome di Revesz-Debuse Syndrome de Revesz-Debuse Síndrome de Revesz-Debuse Síndrome de Revesz-Debuse Retinopathie - Anämie - ZNS-Anomalien Retinopathy - anemia- central nervous system anomalies Retinopatia - anemia - anomalias do SNC Retinopatia - anemia - anomalie del sistema nervoso centrale Retinopatía - anemia - anomalías del sistema nervioso central Rétinopathie - anémie - anomalies du système nerveux central hrdo:pat_id_2772 106700 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28return+OR+connection%29+%28Pulmonary+Veins/ab%5Bmajr%5D+OR+%28pulmonary+venous%5Bti%5D+anomaly%29%29 Q26.2 Q26.3 Q26.4 3090 group of phenomes Congenital pulmonary venous connection anomaly Connessione venosa polmonare anomala, tipo congenito Anomalie congénitale du retour veineux pulmonaire Congenital pulmonary venous return anomaly Lungenvenenfehlmündung, kongenitale Retorno venoso pulmonar anómalo Retorno venoso pulmonar, anomalia Ritorno venoso polmonare anomalo, tipo congenito hrdo:pat_id_2773 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 608978 neant 3097 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Meacham-Winn-Culler syndrome Meacham-Winn-Culler, síndrome de Meacham-Winn-Culler-Syndrom Rabdomioma - cardiopatía - anomalías genitales Rhabdomyomatous dysplasia - cardiopathy - genital anomalies Rhabdomyomatöse Dysplasia - Kardiopathie - Genitalanomalien Rhabdomyome - cardiopathie - anomalies génitales Sindrome di Meacham-Winn-Culler Syndrome de Meacham-Winn-Culler Síndrome de Meacham-Winn-Culler Displasia rabdomiomatosa - cardiopatia - anomalias genitais Meacham syndrome Meacham-Syndrom Rabdomioma - cardiopatia - anomalie genitali Syndrome de Meacham Síndrome de Meacham hrdo:pat_id_2774 268250 C537611 Q87.1 3098 C1849382 malformation syndrome Rhizomeles Syndrom Rhizomelic syndrome Sindrome rizomelica Syndrome rhizomélique Síndrome rizomélico Síndrome rizomélico hrdo:pat_id_2776 255710 C535675 neant Q87.8 3101 C2930978 malformation syndrome Miotonia - atraso mental - anomalias ósseas Miotonia - déficit intelectual - anomalías esqueléticas Miotonia - ritardo mentale - anomalie scheletriche Myotonia - intellectual deficit - skeletal anomalies Myotonie - déficit intellectuel - anomalies squelettiques Myotonie - geistige Retardierung - Skelettanomalien Richieri Costa-da Silva syndrome Richieri-Costa-da-Silva-Syndrom Sindrome di Richieri Costa-da Silva Syndrome de Richieri-Costa-da Silva Síndrome de Richieri Costa-da Silva Síndrome de Richieri-Costa-da Silva hrdo:pat_id_2777 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 268305 C535677 neant Q87.8 3102 C1849348 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Baixa estatura - sequência de Robin - fenda mandibular - anomalias das mãos - pés botos Estatura baja - secuencia de Pierre Robin - fisura maxilar - anomalías de las manos - pie zambo Estatura baja - síndrome de Pierre Robin - fisura maxilar - anomalías de las manos - pie zambo Kleinwuchs - Pierre Robin-Sequenz - maxilläre Kieferspalte - Klumpfüße - Anomalien der Hände Petite taille - syndrome de Pierre Robin - fente mandibulaire - anomalie des mains Petite taille - séquence de Pierre Robin - fente mandibulaire - anomalie des mains Short stature - Pierre Robin sequence - cleft mandible - hand anomalies clubfoot Short stature - Pierre Robin syndrome - cleft mandible - hand anomalies clubfoot Statura bassa - sequenza di Pierre Robin - schisi mascellare - piedi torti - anomalie delle mani Statura bassa - sindrome di Pierre Robin - schisi mascellare - piedi torti - anomalie delle mani Richieri Costa-Pereira syndrome Richieri-Costa-Pereira-Syndrom Sindrome di Richieri Costa-Pereira Syndrome de RichieriCosta-Pereira Síndrome de Richieri Costa-Pereira Síndrome de Richieri-Costa-Silveira-Pereira hrdo:pat_id_2778 172880 C535688 3104 C1868309 malformation syndrome Pierre Robin sequence - oligodactyly Pierre-Robin, síndrome de - oligodactilia Pierre-Robin-Syndrom- Oligodaktylie Secuencia de Pierre Robin - oligodactilia Séquence de Pierre Robin - oligodactylie Síndrome de Pierre-Robin - oligodactilia Pierre-Robin-Sequenz - Oligodaktylie Robin sequence - oligodactyly Secuencia de Robin - oligodactilia Sequenza di Pierre Robin - oligodattilia Sequência de Robin - oligodactilia Séquence de Robin - oligodactylie hrdo:pat_id_2779 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Robinow+syndrome+anterior+chamber+cleavage Q87.1 3105 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Saal-Greenstein syndrome Saal-Greenstein, síndrome de Saal-Greenstein-Syndrom Sindrome di Saal-Greenstein Syndrome de Saal-Greenstein Síndrome de Saal-Greenstein Síndrome de Saal-Greenstein Robinow-like syndrome Robinow-ähnliches Syndrom Sindrome Robinow-simile Syndrome Robinow-like Síndrome Robinow-like Síndrome de tipo Robinow hrdo:pat_id_278 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 309400 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=menkes+kinky+hair+syndrome+OR+menkes+dis*%5Bti%5D+OR+Menkes+synd*%5Bti%5D E83.0 565 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown 'Kinky hair'-Syndrom 'Malattia dei capelli a ''fil di ferro''' 'Sindrome dei capelli a ''fil di ferro''' Cabelo impenteável, síndrome de Deficit del rame legato all'X Déficit de cobre ligado al X Déficit en cuivre lié à l'X Enfermedad del cabello rizado Kinky hair disease Kinky hair syndrome Kraushaarsyndrom Kupfer-Mangel, X.chromosomaler MD MD MD MD MD MK MK MK MK MK MNK MNK MNK MNK MNK Malattia dei capelli crespi Menkes syndrome Menkes-Krankheit Menkes-Stahlhaarkrankheit Sindrome dei capelli crespi Sindrome di Menkes Steely hair disease Steely hair syndrome Syndrome 'Kinky hair' Syndrome de Menkes Syndrome des cheveux en fils de fer de Menkes Síndrome de Menkes Síndrome de cabelo impenteável Síndrome del cabello ensortijado Síndrome del cabello rizado Trichopoliodystrophie Trichopoliodystrophie Trichopoliodystrophy Tricopoliodistrofia Tricopoliodistrofia X-linked copper deficiency Enfermedad de Menkes Maladie de Menkes Malattia di Menkes Menkes disease Menkes-Syndrom Síndrome de Menkes hrdo:pat_id_2780 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 180750 C537183 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Robinow+Sorauf+syndrome Q87.0 3106 C1867146 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Robinow-Sorauf syndrome Robinow-Sorauf-Syndrom Sindrome di Robinow-Sorauf Syndrome de Robinow-Sorauf Síndrome de Robinow-Sorauf Síndrome de Robinow-Sorauf hrdo:pat_id_2781 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 180700 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%28Robinow+syndrome%5Btw%5D+dominant%29+OR+fetal+face+syndrome%5Btw%5D%29+NOT+%28ROR2+OR+ror%29 Q87.1 3107 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 DRS DRS DRS Face fetal, síndrome da Síndrome da face fetal Síndrome de la cara fetal Autosomal dominant Robinow syndrome Robinow-Syndrom, autosomal-dominantes Sindrome di Robinow autosomica dominante Syndrome de Robinow autosomique dominant Síndrome de Robinow autosómico dominante Síndrome de Robinow tipo dominante hrdo:pat_id_2783 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 158330 277000 601076 10065148 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Mayer+Rokitansky+Kuster+syndrome Q51.8 3109 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 MRKH syndrome MRKH, síndrome MRKH-Syndrom Mayer-Rokitansky-Küster-Hauser, tipo 1 (MRKH tipo 1), síndrome de Mayer-Rokitansky-Küster-Hauser-Syndrom Typ 1 (MRKH Typ 1) Rokitansky Sequenz Rokitansky syndrome Rokitansky, sequência de Rokitansky, síndrome de Rokitansky-Syndrom Sequência de Rokitansky Sindrome MRKH Sindrome di Rokitansky Syndrome MRKH Syndrome de Rokitansky Síndrome MRKH Síndrome MRKH Síndrome de Mayer-Rokitansky-Küster-Hauser, tipo 1 (MRKH tipo 1) Síndrome de Rokitansky Síndrome de Rokitansky Mayer-Rokitansky-Küster-Hauser syndrome Mayer-Rokitansky-Küster-Hauser-Syndrom Sindrome di Mayer-Rokitansky-Küster-Hauser Syndrome de Mayer-Rokitansky-Küster-Hauser Síndrome de Mayer-Rokitansky-Küster-Hauser Síndrome de Mayer-Rokitansky-Küster-Hauser hrdo:pat_id_2784 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 180730 C535870 3110 C1867147 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Rombo syndrome Rombo-Syndrom Sindrome di Rombo Syndrome de Rombo Síndrome de Rombo Síndrome de Rombo hrdo:pat_id_2785 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 268400 D011038 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Rothmund+Thomson+syndrome+OR+Poikiloderma+congenitale Q82.8 2909 69093006 C0032339 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Poichilodermia di Rothmund-Thomson Poikiloderma of Rothmund-Thomson Poikilodermie Rothmund-Thomson Poiquilodermia de Rothmund-Thomson Poïkilodermie de Rothmund-Thomson RTS Rothmund-Thomson syndrome Rothmund-Thomson-Syndrom Sindrome di Rothmund-Thomson Syndrome de Rothmund-Thomson Síndrome de Rothmund-Thomson Síndrome de Rothmund-Thomson hrdo:pat_id_2786 168850 C536307 3112 C1868581 disease Aplasia da rótula - coxa vara - sinostose do tarso Aplasia de rótula - coxa vara - sinostosis tarsal Aplasia della rotula - coxa vara - sinostosi del tarso Aplasie de la rotule - coxa vara - synostose tarsienne Patella aplasia - coxa vara - tarsal synostosis Patellaraplasie - Coxa vara - tarsale Synostosis hrdo:pat_id_2789 180800 neant G60.0 3115 45853006 C0205713 disease Areflektorischen Dystasie, hereditäre, Typ Roussy-Levy Areflexic dystasia, hereditary, Roussy-Levy type Distasia areflessica ereditaria, tipo Roussy-Levy Distasia arrefléxica hereditaria tipo Roussy-Levy Distasia arrefléxica hereditária de Roussy-Levy Roussy-Levy syndrome Roussy-Lévy-Syndrom Sindrome di Roussy-Levy Syndrome de Roussy-Levy Síndrome de Roussy-Levy hrdo:pat_id_279 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 174800 D005359 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22fibrous+dysplasia%2C+polyostotic%22%5BMH%5D+OR+McCune-Albright+syndrome%5BTi%5D Q78.1 562 36517007 C0242292 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Gonadotropin-independent female-limited sexual precocity Puberdade Precoce familiar, independente da gonadotrofina, limitada ao sexo feminino Pubertad precoz limitada femenina independiente de gonadotropina Pubertas praecox, familiäre Gonadotropin-unabhängige weibliche Pubertà femminile precoce indipendente dalle gonadotropine Puberté précoce indépendante des gonadotrophines chez la fille McCune-Albright syndrome McCune-Albright-Syndrom Sindrome di McCune-Albright Syndrome de McCune-Albright Síndrome de McCune-Albright Síndrome de McCune-Albright hrdo:pat_id_2791 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 308200 C535878 C537365 neant 431 2355008 C0270709 C1839989 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hipogonadismo congénito masculino con ictiosis Hypogonadisme congénital - ichtyose Ichthyose und männlicher Hypogonadismus Ichthyosis - male hypogonadism Ictiose - hipogonadismo masculino Ipogonadismo congenito con ittiosi hrdo:pat_id_2792 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 268650 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=ureteral+stenosis+Rudiger Q87.8 3118 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Rudiger syndrome Rüdiger-Syndrom Sindrome di Rudiger Syndrome de Rudiger Síndrome de Rudiger Síndrome de Rudiger hrdo:pat_id_2795 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 180870 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Ruvalcaba+syndrome%5Btw%5D Q87.8 3121 3073006 C0265248 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hunter-McAlpine, síndrome de Hunter-Mcalpine-Syndrom Síndrome de Hunter-McAlpine Ruvalcaba syndrome Ruvalcaba-Syndrom Sindrome di Ruvalcaba Syndrome de Ruvalcaba Síndrome de Ruvalcaba Síndrome de Ruvalcaba hrdo:pat_id_2796 182190 3122 malformation syndrome Alteraciones del ritmo cardíaco - miopía Disturbi del ritmo - miopia Doença do nó sinusal - miopia Enfermedad del seno - miopía Sinus node disease - myopia Sinusknoten-Syndrom und Myopie Troubles du rythme - myopie hrdo:pat_id_2797 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 211390 C536320 neant L67.8 3123 C0796271 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Brittle hair - mental deficiency Cabello quebradizo - déficit intelectual Cabelo quebradiço - atraso mental Capelli fragili - ritardo mentale Cheveux cassants - déficit intellectuel Sprödes Haar - geistige Retardierung Trichothiodystrophie Typ B   Trichothiodystrophie type B Trichothiodystrophy type B Tricotiodistrofia tipo B Tricotiodistrofia, tipo B Brittle hair syndrome, Sabinas type Sabinas - 'Brittle hair'-Syndrom Sindrome dei capelli fragili, tipo Sabinas Syndrome de Sabinas Síndrome cabelo quebradiço de Sabinas Síndrome del cabello quebradizo, tipo Sabinas hrdo:pat_id_28 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 252600 252605 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(mucolipidosis%5Bti%5D+OR+mucolipidosis%5Bmajr%5D)+(%22mucolipidosis+iii%22+OR+%22MLiii%22+OR+type+iii%5Bti%5D+OR+type+3%5Bti%5D) E77.0 577 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Polidistrofia pseudo-Hurler Pseudo-Hurler polydystrophy Pseudo-Hurler-Polydystrophie Pseudo-polidistrofia de Hurler Pseudo-polydystrophie de Hurler Pseudopolidistrofia di Hurler Mucolipidose tipo 3 Mucolipidose type 3 Mucolipidosi, tipo 3 Mucolipidosis tipo 3 Mucolipidosis type 3 Mukolipidose Typ 3 hrdo:pat_id_280 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 249000 603194 607361 611134 611561 612284 613885 614175 614209 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Meckel+synd*%5Btw%5D+OR+Meckel+Gruber%5Btw%5D+OR+polycystic+kidney+diseases%5Bmh%5D+encephalocele%5Bmh%5D+polydactyly%5Bmh%5D+syndrome%5Bmh%5D Q61.9 564 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Meckel-Gruber syndrome Meckel-Gruber, síndrome de Meckel-Gruber-Syndrom Syndrome de Gruber Syndrome de Meckel-Gruber Síndrome de Meckel-Gruber Síndrome de Meckel-Gruber Meckel syndrome Meckel-Syndrom Sindrome di Meckel Syndrome de Meckel Síndrome de Meckel Síndrome de Meckel hrdo:pat_id_2800 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 101120 neant Q87.0 3128 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ACPS - hypoplasie des membres inférieurs ACPS III ACPS III ACPS with leg hypoplasia Acro-céphalo-polysyndactylie type 3 Acrocephalopolysyndactyly type 3 Cutis laxa - Osteoporose Cutis laxa - osteoporose Cutis laxa - osteoporosi Cutis laxa - osteoporosis Sakati syndrome Sakati-Nyhan-Tisdale syndrome Syndrome de Sakati Syndrome de Sakati-Nyhan-Tisdale Sakati-Nyhan syndrome Sakati-Nyhan-Syndrom Sindrome di Sakati-Nyhan Syndrome de Sakati-Nyhan Síndrome de Sakati-Nyhan Síndrome de Sakati-Nyhan hrdo:pat_id_2801 600705 C536616 3130 C1833454 disease Satoyoshi syndrome Satoyoshi-Syndrom Sindrome di Satoyoshi Syndrome de Satoyoshi Síndrome de Satoyoshi Síndrome de Satoyoshi hrdo:pat_id_2803 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 251240 C536618 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=microcephaly+MICROCEPHALY+CHEMOTACTIC+hypogammaglobulinemia Q87.8 3132 C2931267 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Microcefalia - hipogamaglobulinemia - anomalias da imunidade Microcefalia - hipogammaglobulinemia - inmunodeficiencia Microcefalia - ipogammaglobulinemia - anomalie immunitarie Microcephaly - hypogammaglobulinemia - abnormal immunity Microcéphalie - hypogammaglobulinémie - immunité anormale Mikrozephalie - Hypogammablobulinämie - Immundefekt Say-Barber-Miller syndrome Say-Barber-Miller-Syndrom Sindrome di Say-Barber-Miller Syndrome de Say-Barber-Miller Síndrome de Say-Barber-Miller Síndrome de Say-Barber-Miller hrdo:pat_id_2804 190650 C536619 neant Q74.8 3133 C1860805 malformation syndrome Daumen, triphalangeale - Patella-Dislokation Polegares trifalângicos - luxação da rótula Pollice trifalangeo - lussazione della rotula Pouce triphalangé - luxation de la rotule Pulgar trifalángico - luxación de rótula Triphalangeal thumbs - dislocation of patella Say-Field-Coldwell syndrome Say-Field-Coldwell-Syndrom Sindrome di Say-Field-Coldwell Syndrome de Say-Field-Coldwell Síndrome de Say-Field-Coldwell Síndrome de Say-Field-Coldwell hrdo:pat_id_2805 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 312830 C536625 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=SKELETAL+abnormalities+cutis+laxa+craniosynostosis+RETARDATION+FACIAL Q82.8 3134 C1839321 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 SCARF syndrome SCARF-Syndrom Sindrome SCARF Syndrome SCARF Síndrome SCARF Síndrome de SCARF hrdo:pat_id_2807 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 269150 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Schinzel+Giedion+syndrome%5BTW%5D Q87.0 798 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hipoplasia do terço médio da face de Schintzel-Giedion Schinzel-Giedion syndrome Schinzel-Giedion-Syndrom Sindrome di Schinzel-Giedion Syndrome de Schinzel-Giedion Síndrome de Schinzel-Giedion hrdo:pat_id_2808 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 181450 C536937 Q71.8 3138 C1866994 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cúbito-mamário de Pallister, síndrome Cúbito-mamário, síndrome Schinzel syndrome Schinzel-Syndrom Sindrome di Schinzel Sindrome ulnare-mammaria di Pallister Syndrome cubito-mammaire de Pallister Syndrome de Schinzel Síndrome cúbito-mamário Síndrome cúbito-mamário de Pallister Síndrome de Schinzel Síndrome ulnar-mamario de Pallister UMS UMS UMS UMS UMS Ulna-Mamma-Syndrom Typ Pallister Ulnar-mammary syndrome of Pallister Sindrome ulnare-mammaria Syndrome cubito-mammaire Síndrome de Schinzel Síndrome ulnar-mamario Ulna-Mamma-Syndrom Ulnar-mammary syndrome hrdo:pat_id_281 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300166 309800 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=lenz+syndrome%5Btw%5D+OR+%28microphthalm*%5BTw%5D+OR+microphthalmos%5Bmh%5D%29+AND+lenz%5Btw%5D Q11.2 568 438504004 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Lenz microphthalmia Lenz-Syndrom MCOPS1 MCOPS1 MCOPS1 Microftalmia de Lenz Microftalmia de Lenz Microftalmia di Lenz Microftalmia sindromica, tipo 1 Microftalmia sindrómica tipo 1 Microphtalmie de Lenz Mikrophthalmie, syndromale, Typ 1 Microftalmia, tipo Lenz Microftalmia, tipo Lenz Microftalmia, tipo Lenz Microphtalmie type Lenz Microphthalmia, Lenz type Mikrophthalmie Typ Lenz hrdo:pat_id_2812 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 269200 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(diabetes+Addison+disease+OR+type+2%5Bti%5D)+Autoimmune+polyendocrinopathy++OR+Schmidt+syndrome%5Btw%5D E31.0 3143 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown APS Typ 2 APS tipo 2 APS type 2 APS type 2 APS, tipo 2 APS-2 APS2 APS2 APS2 APS2 Autoimmun-polyglanduläres Syndrom Typ 2 Autoimmune Schilddrüsenkrankheit und/oder Typ 1 Diabetes - Addison-Krankheit Autoimmune polyendocrine syndrome type 2 Autoimmune polyglandular syndrome type 2 Autoimmune thyroid disease and/or type 1 diabetes - Addison's disease Enfermedad tiroidea autoinmune y/o diabetes de tipo 1 - enfermedad de Addison Maladie auto-immune de la thyroïde et/ou diabète de type 1 - maladie d'Addison Malattia tiroidea autoimmune e/o diabete tipo 1 - malattia di Addison Schmidt syndrome Schmidt-Syndrom Sindrome di Schmidt Sindrome poliendocrina autoimmune , tipo 2 Sindrome poliendocrina autoimmune, tipo 2 Sindrome polighiandolare autoimmune, tipo 2 Syndrome de Schmidt Syndrome polyglandulaire autoimmun type 2 Síndrome de Schmidt Síndrome poliendocrino autoinmune tipo 2 Síndrome poliglandular autoinmune tipo 2 Autoimmun-Polyendokrinopathie Typ 2 Autoimmune polyendocrinopathy type 2 Poliendocrinopatia autoimmune, tipo 2 Poliendocrinopatía autoinmune tipo 2 Polyendocrinopathie auto-immune type 2 Síndrome de Schmidt hrdo:pat_id_2813 269250 C536637 neant Q77.7 3144 254049009 C0432194 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Chondrodysplasia with snail-like pelvis Chondrodysplasie avec bassin en escargot Condrodisplasia con bacino a chiocciola Condrodisplasia con pelvis con estructura en espiral SLC35D1-CDG syndrome Sindrome SLC35D1-CDG Syndrome SLC35D1-CDG Síndrome SLC35D1-CDG Displasia de Schneckenbecken Displasia de Schneckenbecken Displasia di Schneckenbecken Dysplasie de Schneckenbecken Schneckenbecken dysplasia Schneckenbecken-Dysplasie hrdo:pat_id_2814 221995 neant 3145 disease Schofer-Beetz-Bohl syndrome Schofer-Beetz-Bohl-Syndrom Sindrome di Schofer-Beetz-Bohl Syndrome de Schofer-Beetz-Bohl Diabete insipido nefrogeno - calcificazione intracranica Diabetes insipidus, nephrogener - intrakraniale Kalzifikation Diabète insipide néphrogénique - calcification intracrâniale Nephrogenic diabetes insipidus - intracranial calcification Síndrome de Schofer-Beetz-Bohl Síndrome de Schofer-Beetz-Bohl hrdo:pat_id_2819 269500 614305 C537525 neant M85.2 3152 17568006 C0265301 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Cortical hyperostosis - syndactyly Hiperostose cortical - sindactilia Hiperostosis cortical sindactilia Hyperostose corticale - syndactylie Hyperostosis corticalis mit Syndaktylie Iperostosi corticale - sindattilia Esclerosteose Esclerosteosis Sclerosteosi Sclerosteosis Sclérostéose Sklerosteose hrdo:pat_id_282 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 267700 603552 603553 608898 613101 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=histiocytosis%2Cnon+langerhans+cell/ge%5Bmh%3Anoexp%5D+OR+histiocytosis%2Cnon+langerhans+cell/cn%5Bmh%3Anoexp%5D D76.1 540 398250003 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 FHL Familial HLH HLH familiare LHF LHH familiar Lymphohistiocytose hémophagocytaire familiale Familial hemophagocytic lymphohistiocytosis Linfohistiocitose hemofagocítica familiar Linfohistiocitosis hemofagocítica familiar Linfoistiocitosi emofagocitica familiare Lymphohistiocytose familiale Lymphohistiozytose, hämophagozytische, familiäre Form hrdo:pat_id_2820 181800 607354 608765 612238 612239 neant M41.1 3153 203646004 C0410702 disease Adolescent idiopathic scoliosis Escoliose juvenil idiopática Escoliosis idiopática del adolescente Scoliose idiopathique de l'adolescent Scoliosi idiopatica dell'adolescente Skoliose, idiopathische juvenile hrdo:pat_id_2823 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 251260 C531759 D049932 10067857 neant 647 234638009 C0398791 C2930831 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown AT V1 AT V1 AT V1 AT V1 Atassia - telangectasia, variante 1 Ataxia telangiectasia variante 1 Ataxia-Teleangiectasia Variante 1 (AT V1) Ataxia-telangiectasia variante 1 (AT V1) Ataxia-telangiectasia, variant 1 Ataxie-télangiectasie variante 1 Berlin breakage syndrome Berlin-breakage-Syndrom Immunodeficiency - microcephaly - chromosomal instability Immunodeficienza - microcefalia - instabilità cromosomica Immunodéficience - microcéphalie - instabilité chromosomique Imunodeficiência, microcefalia e instabilidade cromossómica Inmunodeficiencia - microcefalia - inestabilidad cromosómica Microcefalia - immunodeficienza - linforeticoloma Microcefalia - imunodeficiência - linforreticuloma Microcefalia - inmunodeficiencia - linforeticuloma Microcefalia não-sindrómica autossómica recessiva com inteligência normal Microcephaly - immunodeficiency - lymphoreticuloma Microcéphalie - immunodéficience - lymphoréticulome Mikrozephalie - Immundefekt - Chromosomeninstabilität Mikrozephalie - Immundefekt - Retikulolymphom Mikrozephalie, autosomal-rezessive nicht-syndromale mit normaler Intelligenz NBS NBS NBS NBS NBS NBS Nijmegen-Breakage-Syndrom Seemanova syndrome type 2 Seemanova tipo 2, síndrome de Seemanova-Syndrom, Typ 2 Sindrome da rotture cromosomiche di Berlino Sindrome di Seemanova, tipo 2 Syndrome Berlin breakage Syndrome de Nijmegen breakage Syndrome de Nimègue Syndrome de Seemanova type 2 Syndrome des cassures de Nijmegen Síndrome de Seemanova de tipo 2 Síndrome de Seemanova tipo 2 Síndrome de rotura de Berlin Nijmegen breakage syndrome Nijmegen-Chromosomenbruch-Syndrom Sindrome da rotture cromosomiche, tipo Nijmegen Syndrome de Nijmegen Síndrome de rotura de Nijmegen Síndrome quebras de Nijmegen hrdo:pat_id_2824 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 266900 606995 606996 609254 610189 613615 614845 C537580 neant Q61.5 3156 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Displasia renal - aplasia retiniana Displasia renale - aplasia retinica Dysplasie rénale - aplasie rétinienne Nefronoftisi con distrofia retinica Nefronoptisis con distrofia de la retina Nephronophthise mit retinaler Dysplasie Nephronophthisis with retinal dystrophy Nierendysplasie - retinale Degeneration Néphronophtise avec dystrophie rétinienne Renal dysplasia - retinal aplasia SLSN SLSN SLSN SLSN SLSN Senior-Loken, síndrome de Síndrome de Senior-Loken Displasia renal - aplasia da retina Senior-Loken syndrome Senior-Loken-Syndrom Sindrome di Senior-Loken Syndrome de Senior-Loken Síndrome de Senior-Loken hrdo:pat_id_2825 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 182230 D025962 10067159 Q04.8 3157 7611002 C0338503 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown DSO De Morsier syndrome De Morsier, síndrome de De-Morsier-Syndrom Espectro de la displasia septo-óptica SOD SOD SOD SOD SOD Septo-optic dysplasia spectrum Septo-optische Dysplasie (Spektrum) Sindrome di De Morsier Spettro della displasia setto-ottica Syndrome de De Morsier Síndrome de De Morsier Síndrome de De Morsier Displasia septo-óptica Displasia septo-ótica Displasia setto-ottica Dysplasie septo-optique Dysplasie, septo-optische Septo-optic dysplasia hrdo:pat_id_2826 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis 108900 neant Q24.8 1479 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate no type <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atrial septal defect - atrioventricular conduction defects Communication interauriculaire - trouble de conduction Comunicación interauricular con defecto de conducción Comunicação inter-auricular - defeito na condução auriculo-ventricular Difetto interatriale con difetto di conduzione Vorhofseptumdefekt mit Reizleitungsstörung hrdo:pat_id_2829 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 269880 C537327 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=short+syndrome%5Btw%5D+OR+%28lipodystrophy+AND+Rieger%5Btw%5D+AND+short+stature%29 Q87.1 3163 C0878684 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Aarskog-Ose-Pande syndrome Aarskog-Ose-Pande, síndrome de Aarskog-Ose-Pande-Syndrom Anomalie de Rieger - Lipodystrophie partielle Lipodistrofia - anomalia de Reiger - diabetes Lipodistrofia - anomalia di Rieger - diabete Lipodystrophie - Rieger-Anomalie - Diabetes Lipodystrophie - anomalie de Rieger - diabète Lipodystrophy - Rieger anomaly - diabetes Rieger anomaly - partial lipodystrophy Sindrome di Aarskog-Ose-Pande Syndrome d'Aarskog-Ose-Pande Síndrome de Aarskog-Ose-Pande SHORT syndrome SHORT-Syndrom Sindrome SHORT Syndrome SHORT Síndrome SHORT Síndrome SHORT hrdo:pat_id_283 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 208500 611263 613091 613819 614376 C537571 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Jeune+syndrome%5BTi%5D+OR+Jeune%27s+syndrome%5BTi%5D+OR+asphyxiating+thoracic+dystrophy%5Bti%5D Q77.2 474 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Asphyxiating thoracic dystrophy of the newborn Asphyxiierende Thoraxdystrophie des Neugeborenen Distrofia toracica asfissiante del neonato Distrofia toracica asfissiante di Jeune Distrofia torácica asfixiante de Jeune Distrofia torácica asfixiante del recién nacido Distrofia torácica asfixiante do recém-nascido Dystrophie thoracique asphyxiante de Jeune Dystrophie thoracique asphyxiante du nouveau-né JATD JATD JATD JATD JATD Jeune asphyxiating thoracic dystrophy Jeune syndrome Jeune-Syndrom Sindrome di Jeune Syndrome de Jeune Síndrome de Jeune Síndrome de Jeune hrdo:pat_id_2830 182210 neant Q79.2 3164 malformation syndrome Omphalocele syndrome, Shprintzen-Goldberg type Omphalozele-Syndrom Typ Shprintzen Sindrome da onfalocele di Shprintzen Syndrome omphalocèle de Shprintzen Síndrome de onfalocele, tipo Shprintzen-Goldberg Síndrome de onfalocelo de Shprintzen hrdo:pat_id_2831 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 113450 C537338 neant Q74.8 3168 C1862092 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Brachidattilia - sinfalangismo Brachydactyly-symphalangism syndrome Braquidactilia - sinfalangia, síndrome de Symphalangismus-Brachydaktylie-Syndrom Síndrome de braquidactilia - sinfalangia Sillence syndrome Sillence-Syndrom Sindrome di Sillence Syndrome de Sillence Síndrome de Sillence Síndrome de Sillence hrdo:pat_id_2833 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 227210 3172 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Augenbrauen, verdoppelte - Syndaktylie Duplicación de cejas - sindactilia Duplication des sourcils - syndactylie Duplicazione delle sopracciglia - sindattilia Duplicação das sobrancelhas - sindactilia Eyebrow duplication - syndactyly hrdo:pat_id_2835 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis neant 3175 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Espasticidad - déficit intelectual - epilepsia, ligada al X Espasticidade - atraso mental Spasticity - intellectual deficit - X-linked epilepsy Spasticità - ritardo mentale Spasticité - déficit intellectuel - épilepsie, lié à l'X Spastik - geistige Retardierung - Epilepsie, X-chromosomal hrdo:pat_id_2836 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 271310 C535472 3177 C1849087 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cornea-zerebelläres Syndrom Corneo-cerebeloso, síndrome Der Kaloustian-Jarudi-Khoury syndrome Der Kaloustian-Jarudi-Khoury, síndrome de Der Kaloustian-Jarudi-Khoury-Syndrom Dégénérescence spino-cérébelleuse - dystrophie cornéenne Kornea-Kleinhirn-Syndrom Sindrome cornea-cervelletto Sindrome di Der Kaloustian-Jarudi-Khoury Spinocerebellar degeneration - corneal dystrophy Syndrome de Der Kaloustian-Jarudi-Khoury Síndrome córneo-cerebeloso Síndrome de Der Kaloustian-Jarudi-Khoury Síndrome de Der Kaloustian-Jarudi-Khoury Corneal-cerebellar syndrome Degeneración espino cerebelosa - distrofia corneal Degenerazione spinocerebellare - distrofia corneale Degenerescência espinocerebelosa - distrofia da córnea Spinozerebelläre Degeneration - Hornhautdystrophie Syndrome cornée-cervelet hrdo:pat_id_2839 600000 C535779 3180 C1838781 malformation syndrome Espondilo camptodactilia síndrome Sindrome spondilocamptodattilia Spondylo-Kamptodaktylie-Syndrom Spondylocamptodactyly syndrome Syndrome spondylo-camptodactylie Síndrome de espondilo-camptodactilia hrdo:pat_id_284 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 607855 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Muscular+dystroph*%5Btw%5D+OR+muscular+dystrophies)+(laminin+OR+merosin+deficien*%5BTW%5D+OR+merosin+negative%5Btw%5D) G71.2 258 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Congenital muscular dystrophy due to laminin alpha2 deficiency DMC1A Distrofia muscolare congenita da deficit di laminina alfa2 Distrofia muscolare congenita merosina-negativa Distrofia muscular congénita con déficit de merosina Dystrophie musculaire congénitale avec déficit primaire en mérosine Dystrophie musculaire congénitale par déficit en laminine alpha 2 MDC1A MDC1A MDC1A Merosin-negative congenital muscular dystrophy Muskeldystrophie, kongenitale, Merosin-negativ Muskeldystrophie, kongenitale, durch Laminin-alpha 2-Mangel Congenital muscular dystrophy type 1A Distrofia muscolare congenita, tipo 1A Distrofia muscular congénita tipo 1A Distrofia muscular congénita, merosina negativa Dystrophie musculaire congénitale type 1A Muskeldystrophie, kongenitale, Typ 1A hrdo:pat_id_2841 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis 122600 Q76.4 1797 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Autosomal dominant spondylocostal dysplasia Dysplasie spondylo-costale autosomique dominante Autosomal dominant spondylocostal dysostosis Disostosi spondilocostale, forma dominante Disostosis espondilocostal forma dominante Displasia espondilo-costal dominante Dysostose spondylo-costale autosomique dominante Dysplasie, spondylo-kostale, dominante Form hrdo:pat_id_2842 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 271550 C535782 neant Q77.7 1855 254079002 389268008 C0432222 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia spondilometafisaria con alterazioni encondromatose Dysplasie, spondylometaphysäre, mit enchondromatösen Veränderungen Espondiloencondromatosis SPENCD SPENCD SPENCD SPENCD SPENCD Spondiloencondromatosi Spondyloenchondromatose Spondyloenchondromatose Spondyloenchondromatosis Spondylometaphyseal dysplasia with enchondromatous changes Displasia espondilo encondral Dysplasie spondylo-enchondrale Dysplasie, spondyloenchondrale Espondilo-encondrodisplasia Spondiloencondrodisplasia Spondyloenchondrodysplasia hrdo:pat_id_2843 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=osteochondrodysplasia%5Bmh%5D+(spondylometaphyseal%5Bti%5D+OR+spondylo+metaphyseal%5Bti%5D) Q77.8 252 group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Displasia espondilo-epimetafisária Displasia espondiloepimetafisaria Displasia spondiloepimetafisaria Dysplasie spondylo-épimétaphysaire Dysplasie, spondyloepimetaphysäre Spondyloepimetaphyseal dysplasia hrdo:pat_id_2852 271700 C535799 neant Q77.7 1856 C0796173 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Disostosi spondiloperiferica - cubito corto Displasia espondilo periférica cúbito corto Displasia espondilo-epimetafisária - cúbito curto Dysplasie spondylo-périphérique - cubitus court Dysplasie, spondylometaphysäre periphere mit kurzer Ulna Spondyloperipheral dysplasia - short ulna hrdo:pat_id_2853 184400 C535802 10010455 Q74.0 3181 79120002 C0152438 morphological anomaly Escápula alta High scapula Schulterblatthochstand Sobreelevación del omóplato Sopraelevazione della scapola Sprengel-Phänotyp Surélévation de l'omoplate Anomalia di Sprengel Anomalie de Sprengel Anomalía de Sprengel Deformidade de Sprengel Sprengel deformity Sprengel-Deformität hrdo:pat_id_2856 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 184510 C537487 3184 C1866650 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Esteatocistoma múltiple - dientes neonatales Esteatocistoma múltiplo - dentes neonatais Steatocistoma - denti neonatali Steatocystoma multiplex - natal teeth Steatokystoma multiplex - neonatale Zähne Stéatocystome multiple - dents néonatales hrdo:pat_id_2857 184705 neant Q87.8 3186 malformation syndrome Holoprosencéphalie - anomalies radiales, cardiaques et rénales Holoprosenzephalie - Radius-, Herz- und Nierenfehlbildungen Oloprosencefalia - anomalie radiali, cardiache e renali Steinfeld syndrome Steinfeld, síndrome de Síndrome de Steinfeld Síndrome de Steinfeld Holoprosencefalia - anomalias radio-cardio-renais Holoprosencefalia - anomalías radiales, cardíacas y renales Holoprosencephaly - radial heart renal anomalies Sindrome di Steinfeld Steinfeld-Syndrom Syndrome de Steinfeld hrdo:pat_id_2858 271960 3191 malformation syndrome Onat syndrome Onat, síndrome de Onat-Syndrom Sindrome di Onat Syndrome d'Onat Síndrome de Onat Síndrome de Onat Estenosis subaórtica - talla baja Stenosi subaortica - bassa statura Sténose subaortique - petite taille Subaortenstenose-Kleinwuchs-Syndrom Subaortic stenosis - short stature Síndrome estenose sub-aórtica - baixa estatura hrdo:pat_id_2859 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Variabel Variabile Variable Variable Variable Variable Variável 185500 D021921 10042598 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=aortic+stenosis%2C+supravalvular+NOT+%28williams+syndrome%5Bmh%5D+OR+Williams+Synd*%5Btw%5D%29 Q25.3 3193 268185002 7169009 C0003499 C1305147 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate morphological anomaly 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Rétrécissement aortique supravalvulaire SVAS SVAS Supravalvar aortic stenosis Aortenstenose, supravalvuläre Estenose aórtica supra-vavulvar Estenosis supravalvular aórtica Stenosi sopravalvolare dell'aorta Sténose aortique supravalvulaire Supravalvular aortic stenosis hrdo:pat_id_2860 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 122440 C536444 C537488 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hyperkeratosis%5BAll+Fields%5D+AND+short%5BAll+Fields%5D+AND+stature%5BAll+Fields%5D+AND+brachydactyly%5BAll+Fields%5D 3194 C1852542 C2931506 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Corneo-dermato-ósseo, síndrome de Corneodermatoosseous syndrome Korneo-dermato-ossäres-Syndrom Sindrome corneo-dermo-ossea Syndrome Cornéo-dermato-osseux Síndrome corneo-dermato-óseo Síndrome corneo-dermato-ósseo Sindrome di Stern-Lubinsky-Durrie Stern-Lubinsky-Durrie syndrome Stern-Lubinsky-Durrie-Syndrom Syndrome de Stern-Lubinsky-Durrie Síndrome de Stern-Lubinsky-Durrie Síndrome de Stern-Lubinsky-Durrie hrdo:pat_id_2861 3195 malformation syndrome Associação malformação do esterno - displasia vascular Esternón malformación displasia vascular Malformation du sternum - dysplasie vasculaire Malformazione dello sterno - displasia vascolare Sternal malformation - vascular dysplasia Sternumfehlbildung assoziiert mit vaskulärer Dysplasie hrdo:pat_id_2862 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 149400 614618 614619 neant G25.8 3197 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Bebé rígido, síndrome Congenital Stiff man syndrome Doença de Kok Doença startle' familiar Familial Startle disease Hereditary hyperexplexia Hiperecplexia Homem rígido, síndrome Hyperekplexia Hyperekplexie Hyperekplexie Hyperekplexie héréditaire Kok disease Kok, doença de Kok-Krankheit Maladie de Kok Maladie familiale du sursaut Startle-Krankheit, familiäre Stiff baby syndrome Stiff-Baby-Syndrom Stiff-Man-Syndrom, kongenitales Syndrome stiff baby Syndrome stiff-man congénital Síndrome bebé rígido Síndrome homem rígido startle' familiar, doença Hereditary hyperekplexia Hiperecplexia hereditária Hiperekplexia hereditaria Hyperekplexie, hereditäre Hyperexplexie héréditaire Ipereplexia ereditaria hrdo:pat_id_2863 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 202900 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Stimmler+ALANINURIA 3199 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome di Stimmler Stimmler syndrome Stimmler-Syndrom Syndrome de Stimmler Síndrome de Stimmler Síndrome de Stimmler hrdo:pat_id_2864 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 192445 neant Q87.8 3201 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Extrasystolen, ventrikuläre - Perodaktylie - Pierre-Robin-Sequenz Sindrome di Stoll-Kieny-Dott Stoll-Kieny-Dott syndrome Stoll-Kieny-Dott, síndrome de Stoll-Kieny-Dott-Syndrom Syndrome de Stoll-Kieny-Dott Síndrome de Stoll-Kieny-Dott Síndrome de Stoll-Kieny-Dott Extrasistoli ventricolari con episodi sincopali - perodattilia - sequenza di Robin Extrasystoles ventriculaires avec syncopes - pérodactylie - séquence de Robin Extrasístoles ventriculares - perodactilia - sequência de Robin Extrasístoles ventriculares con episodios sincopales - perodactilia - secuencia de Robin Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence Ventrikuläre Extrasystolen mit synkopalen Episoden - Perodaktylie - Pierre-Robin-Sequenz hrdo:pat_id_2865 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 272350 C538142 neant Q82.0 3210 403767009 C1802405 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome di Summitt Summitt syndrome Summitt-Syndrom Syndrome de Summitt Síndrome de Summit Síndrome de Summitt hrdo:pat_id_2867 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 125250 neant H47.2 3212 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Konigsmark-Knox-Hussels syndrome Konigsmark-Knox-Hussels, síndrome de Konisgsmark-Knox-Hussels-Syndrom Sindrome di Konisgsmark-Knox-Hussels Syndrome de Konisgsmark-Knox-Hussels Síndrome de Konigsmark-Knox-Hussels Síndrome de Konigsmark-Knox-Hussels Atrofia ottica autosomica dominante - sordità congenita Atrofia óptica autosómica dominante y sordera congénita Atrophie optique autosomique dominante et surdité congénitale Autosomal dominant optic atrophy and congenital deafness Síndrome surdez - atrofia ótica Taubheit-Optikusatrophie-Syndrom hrdo:pat_id_2868 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 311150 neant H47.2 H90.3 3213 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Jensen syndrome Jensen, síndrome de Jensen-Syndrom Sindrome di Jensen Syndrome de Jensen Síndrome de Jensen Síndrome de Jensen Atrofia dos nervos ótico e acústico - demência Deafness - opticoacoustic nerve atrophy - dementia Schwerhörigkeit - Optikusatrophie - Demenz Sordera - atrofia óptica - demencia Sordità - atrofia ottica - demenza Surdité - atrophie optique - démence hrdo:pat_id_2869 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601706 C536771 3214 C1866425 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome di Warburg-Thomsen Syndrome de Warburg-Thomsen Síndrome de Warburg-Thomsen Warburg-Thomsen syndrome Warburg-Thomsen, síndrome de Warburg-Thomsen-Syndrom Cegueira - surdez - hipopigmentação Deaf blind hypopigmentation syndrome, Yemenite type Sordità - cecità - ipopigmentazione Surdité - cécité - hypopigmentation Síndrome de hipopigmentación con sordera y ceguera, tipo yemení Taubheit - Blindheit - Hypopigmentierung hrdo:pat_id_287 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 225500 D004613 10008724 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%22ellis-van+creveld+syndrome%22%5BTw%5D+NOT+Medline%5BSB%5D%29+OR+%22ellis-van+creveld+syndrome%22%5BMH%5D Q77.6 289 62501005 C0013903 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Chondroectodermal dysplasia Displasia condroectodermica Displasia condroectodermica Displasia condroectodérmica Displasia mesodermica Dysplasie chondroectodermique Dysplasie mésoectodermique Mesodermic dysplasia Ellis Van Creveld syndrome Ellis Van Creveld-Syndrom Sindrome di Ellis-Van Creveld Syndrome d'Ellis-Van Creveld Síndrome de Ellis Van Creveld Síndrome de Ellis-Van Creveld hrdo:pat_id_2870 3215 disease Davenport-Donlan syndrome Davenport-Donlan, síndrome de Davenport-Donlan-Syndrom Sindrome di Davenport-Donlan Syndrome de Davenport-Donlan Síndrome de Davenport Donlan Síndrome de Davenport-Donlan Deafness - white hair - contractures - papillomas Sordera - cabellos despigmentados - contracturas Sordità - capelli depigmentati - contratture Surdez - piebaldismo - contracturas - papilomas Surdité - cheveux dépigmentés - contractures Taubheit - depigmentierte Haare - Kontrakturen - Papillome hrdo:pat_id_2872 221300 neant 3216 malformation syndrome Mengel-Konigsmark syndrome Mengel-Konigsmark, síndrome de Mengel-Konigsmark-Syndrom Sindrome di Mengel-Konigsmark Syndrome de Mengel-Konigsmark Síndrome de Mengel-Konigsmark Síndrome de Mengel-Konigsmark Conductive deafness - malformed external ear Schallleitungsschwerhörigkeit - Fehlbildungen des äußeren Ohres Sordera conductiva - anomalía del oído externo Sordità di tipo conduttivo - anomalie dell'orecchio esterno Surdez de condução - malformação do pavilhão auricular Surdité de conduction - anomalie de l'oreille externe hrdo:pat_id_2873 221400 3217 disease Groll-Hirschowitz syndrome Groll-Hirschowitz, síndrome de Sindrome di Groll-Hirschowitz Syndrome de Groll-Hirschowitz Síndrome de Groll-Hirschowitz Deafness - small bowel diverticulosis - neuropathy Schwerhörigkeit - Dündarm-Divertikulose - Neuropathie Sordera - diverticulosis en el intestino delgado - neuropatía Sordità - diverticolosi - neuropatia Surdez - divertículos mesentéricos do intestino delgado - neuropatia Surdité - diverticulose - neuropathie hrdo:pat_id_2875 601351 3218 malformation syndrome Chitty-Hall-Baraitser syndrome Chitty-Hall-Baraitser, síndrome de Chitty-Hall-Baraitser-Syndrom Sindrome di Chitty-Hall-Baraitser Syndrome de Chitty-Hall-Baraitser Síndrome de Chitty-Hall-Baraitser Síndrome de Chitty-Hall-Baraitser Deafness - epiphyseal dysplasia - short stature Schwerhörigkeit - epiphysäre Dysplasie - Kleinwuchs Sordera - displasia epifisaria - talla baja Sordità - displasia epifisaria - bassa statura Surdez - displasia epifisária - baixa estatura Surdité - dysplasie épiphysaire - petite taille hrdo:pat_id_2876 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 229120 C537270 Q87.8 3219 C0795944 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deafness - skeletal dysplasia - lip granuloma Fountain, síndrome de Fountain-Syndrom Sordera - displasia esquelética - anomalía del labio Sordità - displasia scheletrica - granuloma del labbro Surdité - dysplasie squelettique - lèvre anormale Síndrome de Fountain Fountain syndrome Schwerhörigkeit - Skelettdysplasie - Lippen-Granulom Sindrome di Fountain Surdez - displasia óssea - granuloma do lábio Syndrome de Fountain Síndrome de Fountain hrdo:pat_id_2877 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 234580 C535994 3220 C1856186 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Heimler syndrome Syndrome de Heimler Deafness - enamel hypoplasia - nail defects Schwerhörigkeit - Schmelzhypoplasie - Nageldefekte Sordera - hipoplasia del esmalte - anomalías en las uñas Sordità - ipoplasia dello smalto - anomalie ungueali Surdez - hipoplasia do esmalte - defeitos ungueais Surdité - hypoplasie de l'émail - anomalie des ongles hrdo:pat_id_2878 188570 274300 neant E07.8 3221 237560005 disease Deafness - thyroid hormone resistance Refetoff syndrome Refetoff-Syndrom Schwerhörigkeit - Resistenz gegen Schilddrüsenhormone Sindrome di Refetoff Sordità - resistenza all'ormone tiroideo Syndrome de Refetoff Generalisierte Resistenz gegen Schilddrüsenhormone Generalized resistance to thyroid hormone Resistencia generalizada a la hormona tiroidea Resistenza generalizzata all'ormone tiroideo Résistance généralisée aux hormones thyroïdiennes Surdez - bócio - epífises pontuadas hrdo:pat_id_2879 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 300661 neant E79.8 3222 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Iperattività della fosforibosilpirofosfato sintetasi Phosphoribosylpyrophosphat-Synthetase-Überaktivität Phosphoribosylpyrophosphate synthetase superactivity Sobreactividad de fosforibosilpirofosfato sintetasa Superatividade da fosforribosilpirofosfato sintetase Suractivité de phosphoribosylpyrophosphate synthétase hrdo:pat_id_2881 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q87.8 3224 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Pfeiffer-Kapferer syndrome Pfeiffer-Kapferer, síndrome de Pfeiffer-Kapferer-Syndrom Sindrome di Pfeiffer-Kapferer Syndrome de Pfeiffer-Kapferer Síndrome de Pfeiffer-Kapferer Síndrome de Pfeiffer-Kapferer Deafness - genital anomalies - metacarpal and metatarsal synostosis Schwerhörigkeit - Genitalanomalien - Synostose der Mittelhand- und der Mittelfussknochen Sordera - anomalías genitales - sinostosis de metacarpianos y metatarsianos Sordità - ipospadia - sinostosi dei metacarpi e dei metatarsi Surdez - hipospadias - sinostose metacárpica e metatársica Surdité - anomalies génitales - synostoses métacarpiennes et métatarsiennes hrdo:pat_id_2882 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=hearing+loss+aldosterone+insensitivity 3225 malformation syndrome Sindrome di Tunglang-Bellman Syndrome de Tungland-Bellman Síndrome de Tunglang-Bellman Síndrome de Tunglang-Savage-Bellman Tungland-Bellman syndrome Tungland-Bellman-Syndrom Tunglang-Savage-Bellman, síndrome de Hearing loss - familial salivary gland insensitivity to aldosterone Hörverlust - Aldosteron-Insensibilität der Speicheldrüsen, familiär Pérdida auditiva - insensibilidad a la aldosterona de la glándula salivar, familiar Sordità - insensibilità familiare delle ghiandole salivari all'aldosterone Surdez - insensibilidade à aldosterona Surdité - insensibilité familiale des glandes salivaires à l'aldostérone hrdo:pat_id_2883 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 614038 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Deafness+lymphedema+(leukemia+OR+cytopenia+OR+Hematologic+Diseases%5Bmh%5D) Q82.0 3226 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Emberger syndrome Emberger-Syndrom Sindrome di Emberger Syndrome d'Emberger Síndrome de Emberger Deafness - lymphedema - leukemia Schwerhörigkeit - Lymphödem - Leukämie Sordera - linfedema - leucemia Sordità - linfedema - leucemia Surdez - linfedema - leucemia Surdité - lymphoedème - leucémie hrdo:pat_id_2885 221750 3228 disease Neurosensory hearing loss - pituitary dwarfism Perdita dell'udito neurosensoriale - nanismo ipofisario Pérdida auditiva neurosensorial - enanismo pituitario Sindrome di Winkelman-Bethge-Pfeiffer Syndrome de Winkelmann-Bethge-Pfeiffer Síndrome de Winkelman-Bethge-Pfeiffer Síndrome de Winkelmann-Bethge-Pfeiffer Winkelman-Bethge-Pfeiffer, síndrome de Winkelman-Bethge-Pfeiffer-Syndrom Winkelmann-Bethge-Pfeiffer syndrome Neurosensory deafness - pituitary dwarfism Schwerhörigkeit, neurosensorische - hypophysärer Kleinwuchs Sordera neurosensorial - enanismo pituitario Sordità neurosensoriale - nanismo ipofisario Surdez neuro-sensorial - nanismo pituitário Surdité neurosensorielle - nanisme pituitaire hrdo:pat_id_2887 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 124950 3229 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deafness - peripheral neuropathy - arterial disease Schwerhörigkeit - periphere Neuropathie - Arteriopathie Sordera - neuropatía periférica - enfermedad arterial Sordità - neuropatia periferica - arteriopatia Surdez - neuropatia periférica - doença arterial Surdité - neuropathie périphérique - artériopathie hrdo:pat_id_2890 221740 C538049 3230 C1857333 malformation syndrome Deafness - oligodontia Schwerhörigkeit - Oligodontie Sordera - oligodoncia Sordità - oligodontia Surdité - oligodontie Síndrome de surdez - oligodontia hrdo:pat_id_2891 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 124480 220500 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(DOOR+syndrome%5Btw%5D+OR+((onycho+osteo+dystrophy%5Bti%5D+OR+Onychodystrophy%5Bti%5D)+deafness))+NOT+%22revolving+door%22 Q87.8 3231 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deafness - onychodystrophy Onicodistrofia - surdez Onychodystrophie - surdité Sordera - onicodistrofia Sordità - onicodistrofia Taubheit - Onychodystrophie hrdo:pat_id_2892 124490 neant Q87.0 3232 malformation syndrome Sellars-Beighton syndrome Sellars-Beighton, síndrome de Sindrome di Sellars-Beighton Syndrome de Sellars-Beighton Síndrome de Sellars-Beighton Síndrome de Sellars-Beighton Deafness - ear malformation - facial palsy Schwerhörigkeit - Ohrfehlbildungen - Gesichtslähmung Sordera - malformaciones del oído - parálisis facial Sordità - anomalie delle orecchie - paralisi facciale Surdez de condução - malformação do estapédio - paralisia facial Surdité - oreille anormale - paralysie faciale hrdo:pat_id_2893 120040 3233 malformation syndrome Cochleo-sacculäre Degeneration - Katarakt Cochleosaccular degeneration - cataract Degeneración cocleosacular - cataratas Degenerazione cocleosacculare - cataratta Dégénérescence cochléo-sacculaire - cataracte Kochleosakkuläre Degeneration - Katarakt Surdez progressiva - catarata, forma autossómica dominante hrdo:pat_id_2894 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 601449 neant H74.3 3235 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Anchilosi stapediovestibolare Ankylose stapédo-vestibulaire Anquilose estapédio-vestibular Sindrome di Thies-Reis Stapedo-vestibular ankylosis Surdité progressive par ankylose des osselets Syndrome de Thies-Reis Síndrome de Thies-Reis Thies-Reis syndrome Thies-Reis, síndrome de Thies-Reis-Syndrom Hörverlust, progressiver, mit Stapesankylose Progressive deafness with stapes fixation Sordera progresiva con fijación del estribo Sordità progressiva associata a anchilosi della staffa Surdez progressiva com fixação do estapédio Surdité progressive par ankylose de l'étrier hrdo:pat_id_2895 221320 C535993 3236 C1857340 malformation syndrome Jackson-Barr syndrome Jackson-Barr, síndrome de Jackson-Barr-Syndrom Sindrome di Jackson-Barr Syndrome de Jackson-Barr Síndrome de Jackson-Barr Síndrome de Jackson-Barr Conductive deafness - ptosis - skeletal anomalies Schallleitungsschwerhörigkeit - Ptosis - Skelettanomalien Sordera - ptosis - anomalías esqueléticas Sordità - ptosi - anomalie scheletriche Surdez de condução - ptose - anomalias ósseas Surdité - ptosis - anomalies du squelette hrdo:pat_id_2896 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 186500 610017 612961 neant Q78.8 3237 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deafness - symphalangism syndrome, Hermann type Facio-audio-sinfalangia Facio-audio-sinfalangismo Facio-audio-sinfalangismo Facio-audio-symphalangism Facio-audio-symphalangisme Fazio-audio-Symphalangie Schwerhörigkeit - Symphalangie-Syndrom, Typ Hermann Sindrome WL Sindrome sordità-sinfalangismo, tipo Hermann Sinfalangismo - brachidattilia Sinfalangismo - braquidactilia Sordera - síndrome de sinfalangismo tipo Hermann Surdité - symphalangisme type Hermann Symphalangie - Brachydaktylie Symphalangism - brachydactyly Symphalangisme - brachydactylie Syndrome WL Síndrome WL Síndrome de WL Síndrome de sordera-sinfalangismo tipo Hermann WL syndrome WL-Syndrom Multiple Synostosen Multiple synostoses syndrome Sindrome da sinostosi multiple Sinostoses múltiplas - braquidactilia Syndrome des synostoses multiples Síndrome de sinostosis múltiple hrdo:pat_id_2897 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Variabel Variabile Variable Variable Variable Variable Variável 157800 3238 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anomalie de la valve mitrale - surdité - anomalie du squelette Forney syndrome Forney-Robinson-Pascoe syndrome Forney-Robinson-Pascoe, síndrome de Forney-Robinson-Pascoe-Syndrom Forney-Syndrom Mitral regurgitation - deafness - skeletal anomalies Mitralinsuffizienz - Schwerhörigkeit - Skelettfehlbildungen Regurgitación mitral - sordera - anomalías esqueléticas Regurgito mitralico - sordità - anomalie scheletriche Sindrome di Forney Sindrome di Forney-Robinson-Pascoe Syndrome de Forney Syndrome de Forney-Robinson-Pascoe Síndrome de Forney Síndrome de Forney-Robinson-Pascoe Síndrome de Forney-Robinson-Pascoe Cardiospondylocarpofacial syndrome Kardio-spondylo-carpo-faziales Syndrom Regurgitação mitral - surdez - anomalias ósseas Sindrome cardio-spondilo-carpo-facciale Syndrome cardio-spondylo-carpo-facial Síndrome cardio-espondilo-carpo-facial hrdo:pat_id_2898 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 221350 Q87.8 3239 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deafness - vitiligo - achalasia Schwerhörigkeit - Vitiligo - Achalasie Sordera - vitiligo - acalasia Sordità - vitiligine - acalasia Surdez - vitiligo - acalasia Surdité - vitiligo - achalasie hrdo:pat_id_2899 125230 neant Q87.0 3241 malformation syndrome Deafness-craniofacial syndrome Sindrome cranio-facciale-sordità Sordera craneo facial síndrome Surdité - syndrome crânio-facial Syndrom der Taubheit mit kranio-fazialer Dysmorphie Síndrome surdez - cranio-facial hrdo:pat_id_29 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 252650 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(mucolipidoses%5Bmh%5D+OR+mucolipidosis%5Bti%5D)+(MLIV%5Btw%5D+OR+type+4%5Btw%5D+OR+4%5Bti%5D)+OR+%22mucolipidosis+iv%22 E75.1 578 111384001 C0238286 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Mucolipidose tipo 4 Mucolipidose type 4 Mucolipidosi, tipo 4 Mucolipidosis tipo 4 Mucolipidosis type 4 Mukolipidose Typ 4 hrdo:pat_id_2900 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 309500 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Mental+retardation+%22X+linked%22+(PQBP1+OR+Renpenning) Q87.5 3242 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso mental ligado ao X por mutações no gene PQBP1 Atraso mental ligado ao X tipo Renpenning Déficit intellectuel lié à l'X dû aux mutations de PQBP1 Déficit intellectuel lié à l'X type Renpenning Geistige Retardierung, X-chromosomale, Typ Renpenning Geistige Retardierung, X-chromosomale, mit PQBP1-Genmutationen Ritardo mentale legato all'X, da mutazione di PQBP1 Ritardo mentale legato all'X, tipo Renpenning X-linked intellectual deficit due to PQBP1 mutations X-linked intellectual deficit, Renpenning type Renpenning syndrome Renpenning-Syndrom Sindrome di Renpenning Syndrome de Renpenning Síndrome de Renpenning Síndrome de Renpenning hrdo:pat_id_2903 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 185750 neant Q74.8 3246 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Learman syndrome Learman, síndrome de Learman-Syndrom Sindrome di Learman Syndrome de Learman Síndrome de Learman Síndrome de Learman Sinfalangia com anomalias múltiplas das mãos e pés Sinfalangismo - anomalie multiple delle mani e dei piedi Sinfalangismo - anomalías múltiples manos y pies Symphalangie - anomalies multiples mains et pieds Symphalangism with multiple anomalies of hands and feet Symphalangismus mit multiplen Anomalien der Hände und Füße hrdo:pat_id_2905 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 185700 Q70.9 3248 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate morphological anomaly <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Distal symphalangism Sinfalangia distal Sinfalangismo distal Sinfalangismo distale Symphalangisme distal Symphalangismus, distaler hrdo:pat_id_2907 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 185800 C536223 Q70.9 3250 C1861385 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cushing-Symphalangie Sinfalangismo familiar proximal Sinfalangismo familiare prossimale Sinfalangismo tipo Cushing Sinfalangismo, tipo Cushing Symphalangism, Cushing type Symphalangisme type Cushing Proximal symphalangism Sinfalangismo prossimale Sinfalangismo proximal Sinfalangismo tipo Cushing Symphalangisme proximal Symphalangismus, proximaler hrdo:pat_id_2908 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 225060 C536726 neant 3253 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CLPED1 CLPED1 CLPED1 CLPED1 Sindactilia - displasia ectodérmica - fenda lábio-palatina Sindattilia - displasia ectodermica - labiopalatoschisi Syndactylie - dysplasie ectodermique - fente labiopalatine Syndactyly - ectodermal dysplasia - cleft/lip palate Syndaktylie - ektodermale Dysplasie - Lippen-Kiefer-Gaumen-Spalte Syndrome de Zlotogora Sindrome di Zlotogora-Ogur Syndrome de Zlotogora-Ogur Síndrome de Zlotogora-Ogur Síndrome de Zlotogora-Ogur Zlotogora-Ogur syndrome Zlotogora-Ogur-Syndrom hrdo:pat_id_2910 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 272440 C538152 neant Q87.8 3255 C0795940 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Filippi, síndrome de Sindattilia tipo 1 - microcefalia - ritardo mentale Syndactylie type 1 - microcéphalie - déficit intellectuel Syndactyly type 1 - microcephaly - intellectual deficit Syndaktylie Typ 1 - Mikrozephalie - geistige Retardierung Síndrome de Filippi Filippi syndrome Filippi-Syndrom Sindactilia tipo 1 - microcefalia - atraso mental Sindrome di Filippi Syndrome de Filippi Síndrome de Filippi hrdo:pat_id_2913 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 212780 neant Q78.4 3258 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cenani syndactyly Cenani-Lenz syndactyly Cenani-Lenz-Syndrom Cenani-Syndaktylie Sindactilia de Cenani Sindactilia de Cenani-Lenz Sindactilia tipo 7 Sindattilia di Cenani Sindattilia, tipo 7 Sindrome di Cenani-Lenz Syndactylie de Cenani Syndactylie de Cenani-Lenz Syndactylie de type 7 Syndaktylie Typ 7 Syndaktylie Typ Cenani-Lenz Síndrome de Cenani-Lenz Type 7 syndactyly Cenani-Lenz syndrome Cenani-Lenz-Syndaktylie Sindactilia de Cenani-Lenz Sindactilia tipo Cenani-Lenz Sindattilia di Cenani-Lenz Syndrome de Cenani-Lenz hrdo:pat_id_2914 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Syngnathia[All+Fields]+AND+Dobrow[All+Fields] 3262 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dobrow, síndrome de Dobrow-Syndrom Sindrome di Dobrow Síndrome de Dobrow Síndrome de Dobrow Singnatia - anomalias múltiplas Singnatia - anomalías múltiples Singnazia - anomalie multiple Syngnathia multiple anomalies Syngnathie - anomalies multiples Syngnathie - multiple Anomalien hrdo:pat_id_2916 Variabel Variabile Variable Variable Variable Variable Variável 143050 236400 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Humeroradial+synostosis%5Btw%5D+OR+radiohumeral+synostosis%5Btw%5D+OR+Humero+radial+synostosis%5Btw%5D+OR+radio+humeral+synostosis%5Btw%5D Q74.0 3265 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo morphological anomaly <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Humeroradial synostosis Sinostose úmero-radial Sinostosi omeroradiale Sinostosis humerorradial Synostose huméro-radiale Synostose, humeroradiale hrdo:pat_id_2917 Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Humeroradioulnar+synostosis+OR+Humero+radio+ulnar+synostosis%5Btw%5D Q74.0 3266 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown morphological anomaly <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Gollop-Coates, síndrome de Synostose huméro-radio-ulnaire Síndrome de Gollop-Coates Humeroradioulnar synostosis Sinostose úmero-radio-cubital Sinostosi omero-radio-ulnare Sinostosis humeroradiocubital Synostose huméro-radio-cubitale Synostose, humero-radio-ulnare hrdo:pat_id_2918 600775 neant Q75.0 3267 morphological anomaly Familial lambdoid synostosis Sinostose lambdoíde familiar Sinostosi lamboidea familiare Sinostosis lambdoidea familiar Synostose lambdoïde familiale Synostose, lambdoide familiäre hrdo:pat_id_2919 603438 neant 3268 malformation syndrome Giuffré-Tsukahara syndrome Sindrome di Tsukahara Syndrome de Giuffré-Tsukahara Syndrome de Tsukahara Síndrome de Tsukuhara Síndrome de Tsukuhara Tsukahara syndrome Tsukuhara, síndrome de Tsukuhara-Syndrom Sinostose - microcefalia - escoliose Sinostosi - microcefalia - scoliosi Sinostosis - microcefalia - escoliosis Synostose - microcéphalie - scoliose Synostosis - Mikrozephalie - Skoliose Synostosis - microcephaly - scoliosis hrdo:pat_id_292 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 143500 D005878 10018267 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22gilbert+disease%22%5BMeSH+Terms%5D+OR+gilbert+syndrome%5BText+Word%5D E80.4 357 27503000 C0017551 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Cholämie, familiäre Cholémie familiale Colemia familiare Colemia, familiar Familial cholemia Hiperbilirrubinemia tipo 1 Hyperbilirubinemia type 1 Hyperbilirubinämie Typ 1 Hyperbilirubinémie type 1 Iperbilirubinemia, tipo 1 Morbus Meulengracht Gilbert syndrome Gilbert-Syndrom Sindrome di Gilbert Syndrome de Gilbert Síndrome de Gilbert Síndrome de Gilbert hrdo:pat_id_2920 266255 neant Q87.8 3270 malformation syndrome Der Kaloustian-McIntosh-Silver syndrome Der Kaloustian-McIntosh-Silver, síndrome de Der-Kaloustian-McIntosh-Silver-Syndrom Sindrome di Der Kaloustian-McIntosh-Silver Syndrome de Der Kaloustian-McIntosh-Silver Síndrome de Der Kaloustian-McIntosh-Silver Radioulnar synostosis - intellectual deficit - hypotonia Sinostose radio-cubital - atraso mental - hipotonia Sinostosi radiocubitale - ritardo mentale - ipotonia Sinostosis radiocubital - déficit intelectual - hipotonia Synostose radio-cubitale - déficit intellectuel - hypotonie Synostose, radioulnare - geistige Retardierung - Hypotonie hrdo:pat_id_2922 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant 3274 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 AGP Arthrite inflammatoire granulomateuse - dermatite - uvéite Arthritis, granulomatöse inflammatorische - Dermatitis - Uveitis Artrite granulomatosa pediatrica Artrite infiammatoria granulomatosa - dermatite - uveite Artritis granulomatosa pediátrica Artritis inflamatoria granulomatosa, dermatitis y uveítis Autoinflammatorische Granulomatose der Kindheit Autoinflammatory granulomatosis of childhood Granulomatose autoinflammatoire de l'enfant Granulomatosi autoinfiammatoria dell'infanzia Granulomatosis autoinflamatoria de la infancia Granulomatous inflammatory arthritis, dermatitis, and uveitis Granulomatous synovitis - uveitis Jabs-Houk-Bias, síndrome de PGA PGA PGA PGA Pediatric granulomatous arthritis Sinovite granulomatosa - uveite Sinovitis granulomatosa - uveítis Synovite granulomateuse - uvéite Synovitis, granulomatöse - Uveitis Síndrome de Jabs-Houk-Bias Arthrite granulomateuse de l'enfant Arthritis, granulomatöse des Kindesalters Artrite granulomatosa dell'infanzia Artritis granulomatosa de la infancia Granulomatous arthritis of childhood Sinovite granulomatosa - uveíte - neuropatias cranianas hrdo:pat_id_2923 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 272460 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Synspondylism+OR+spondylocarpotarsal Q76.4 3275 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sinostose espondilo-carpo-társica Sinostosi spondilo-carpo-tarsale Sinostosis espondilo-carpo-tarsal Spondylo-karpo-tarsale Synostose Spondylocarpotarsal synostosis Synostose spondylo-carpo-tarsienne Sinespondilismo congénito Sinspondilia Sinspondilismo congenito Synspondylism Synspondylisme congénital Synspondylismus hrdo:pat_id_2926 272550 3284 disease Adams-Nance, síndrome de Adams-Nance-Syndrom Sindrome di Adams-Nance Síndrome de Adams-Nance Tachicardia - ipertensione - microftamo - iperglicinuria Tachycardia - hypertension - microphthalmos - hyperglycinuria Tachycardie - hypertension - microphtalmie - hyperglycinurie Tachykardie - Hypertension - Mikrophthalmie - Hyperglycinurie Taquicardia - hipertensão - microftalmia - hiperglicinúria Taquicardia hipertensión microftalmia hiperglicinuria hrdo:pat_id_2927 Variabel Variabile Variable Variable Variable Variable Variável 604091 D052456 10065133 neant E78.6 425 15346004 238095002 C0342898 C1704429 disease Apo A 1-Mangel Apo A-I, deficiência de Decifit di apo A-I Deficiência de Apo A-I Familial hypoalphalipoproteinemia Hipoalfalipoproteinemia familiar Hypoalphalipoproteinämie, familiäre Hypoalphalipoprotéinémie familiale Ipoalfalipoproteinemia familiare Apolipoprotein A 1-Mangel Apolipoprotein A-I deficiency Deficiencia de apolipoproteína A1 Deficit di apolipoproteina A-I Déficit en apolipoprotéine A-I Hipoalfalipoproteinemia familiar hrdo:pat_id_2929 272700 C536946 neant K00.2 3289 51744007 C0266039 morphological anomaly Taurodontia Taurodontie Taurodontism Taurodontisme Taurodontismo Taurodontismo hrdo:pat_id_293 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 154500 248390 613717 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=mandibulofacial+dysostosis%5Bmh%3Anoexp%5D+OR+Mandibulofacial+Dysostos*%5Btw%5D+OR+treacher-coll*%5Btw%5D+OR+franceschetti-kl*%5Btw%5D Q75.4 861 82203000 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Disostose mandibulofacial Disostosi mandibolofacciale Dysostose mandibulo-faciale sans anomalies des extrémités Dysostose, mandibulofaziale Franceschetti-Klein syndrome Franceschetti-Klein, síndrome de Franceschetti-Klein-Syndrom Mandibulofacial dysostosis without limb anomalies Sindrome di Franceschetti-Klein Syndrome de Franceschetti-Klein Síndrome de Franceschetti-Klein Sindrome di Treacher-Collins Syndrome de Treacher-Collins Síndrome de Treacher-Collins Síndrome de Treacher-Collins Treacher-Collins syndrome Treacher-Collins-Syndrom hrdo:pat_id_2931 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 272950 C536950 neant 3291 C1848912 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome di Teebi-Shaltout Syndrome de Teebi-Shaltout Síndrome de Teebi-Shaltout Síndrome de Teebi-Shaltout Teebi-Shaltout syndrome Teebi-Shaltout-Syndrom hrdo:pat_id_2932 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 211960 C536953 Q74.0 3292 C1859356 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Camptodactylie Tel Hashomer Sindrome da camptodattilia di Tel Hashomer Síndrome camptodactilia de Tel Hashomer Síndrome de camptodactilia de Tel Hashomer Tel Hashomer camptodactyly syndrome Tel-Hashomer-Kamptodaktylie-Syndrom hrdo:pat_id_2933 3293 malformation syndrome Telecanthus - hipertelorismo - estrabismo - pie cavo Telecanthus - hypertelorism - strabismus - pes cavus Telecanto - hipertelorismo - pés cavus Telecanto - ipertelorismo - strabismo - piede cavo Telekanthus - Hypertelorismus - Strabismus - Pes cavus Télécanthus - hypertélorisme - strabisme - pied creux hrdo:pat_id_2934 187390 3294 malformation syndrome Hapnes-Boman-Skeie syndrome Hapnes-Boman-Skeie, síndrome de Hapnes-Boman-Skeie-Syndrom Sindrome di Hapnes-Boman-Skeie Syndrome de Hapnes-Boman-Skeie Síndrome de Hapnes-Boman-Skeie Síndrome de Hapnes-Boman-Skeie Anomalia dei tendini estensori delle dita Anomalias dos tendões extensores dos dedos Anomalie des tendons extenseurs des doigts Anomalien der Fingerstrecksehnen Anomalía de los tendones extensores de los dedos Extensor tendons of finger anomalies hrdo:pat_id_2939 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 273395 C536500 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=((%22tetra+amelia%22+OR+Tetraamelia)+Ectromelia)+NOT+(wnt3+OR+%22Wnt-3%22+OR+%22SC+phocomelia%22+OR+%22Roberts+syndrome%22)+OR+(Zimmer+phocomelia%5Btw%5D) Q87.8 3301 C2931218 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Focomelia de Zimmer Focomelia di Zimmer Phocomélie de Zimmer Tetra-amelina - malformações múltiplas, ligado ao X Zimmer phocomelia Zimmer-Phokomelie Tetra-amelia - malformaciones múltiples Tetra-amelia - malformazioni multiple Tetra-amelina - malformações múltiplas Tetra-amélie - malformations multiples Tetraamelia - multiple malformations Tetraamelie - Multiple Fehlbildungen hrdo:pat_id_294 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 254800 310370 612437 D020194 10054895 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=unverricht+lundborg+syndrome+OR+epilepsy%2C+myoclonic%5Bmh%5D+%28unverricht+lundborg%5Btw%5D+OR+baltic%5Btw%5D%29 G40.3 308 230423006 C0751785 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 DUL Epilepsia mioclónica progressiva tipo 1 Epilepsie myoclonique progressive type 1 Epilessia mioclonica progressiva, tipo 1 MUL Progressive myoclonic epilepsy type 1 ULD Doença de Unverricht-Lundborg Enfermedad de Unverricht-Lundborg Epilessia mioclonica progressiva, tipo Unverricht-Lundborg Maladie de Unverricht-Lundborg Unverricht-Lundborg disease Unverricht-Lundborg-Krankheit hrdo:pat_id_2940 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601127 neant Q87.8 3304 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Bindewald-Ulmer-Muller syndrome Bindewald-Ulmer-Muller, síndrome de Bindewald-Ulmer-Müller-Syndrom Sindrome di Bindewald-Ulmer-Müller Syndrome de Bindewald-Ulmer-Muller Síndrome de Bindewald-Ulmer-Muller Complejo de Fallot - déficit intelectual - retraso en el crecimiento Complexo de Fallot - atraso mental e de crescimento Fallot complex - intellectual deficit - growth delay Fallot-Tetralogie - Intelligenzminderung - Wachstumsverzögerungen Tetralogia di Fallot - bassa statura - ritardo mentale Tétralogie de Fallot - petite taille - déficit intellectuel hrdo:pat_id_2942 273490 C536504 neant 3311 C2931220 disease Thalamusdegeneration Degeneración talámica simétrica infantil Degenerazione talamica Degenerescência simétrica talâmica infantil Dégénérescence thalamique Infantile symmetrical thalamic degeneration Thalamusdegeneration, infantile symmetrische hrdo:pat_id_2943 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q86.8 3312 36193003 C0432365 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Fetal thalidomide syndrome Foetopathie à la thalidomide Embriopatia da talidomide Embriopatia por talidomida Embriopatía por talidomida Embryopathie à la thalidomide Thalidomid-Fetopathie Thalidomide embryopathy hrdo:pat_id_2944 3313 disease Déficit intellectuel - microcéphalie - faciès particulier Geistige Retardierung - Mikrozephalie - ungewöhnliche Fazies Ritardo mentale - microcefalia - facies caratteristica Síndrome de Thiele Thiele syndrome Thiele, síndrome de Atraso mental - microcefalia - face peculiar Déficit intelectual - microcefalia - facies particular Intellectual deficit - microcephaly - unusual facies Sindrome di Theile Syndrome de Theile Theile-Syndrom hrdo:pat_id_2945 165700 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Thiemann*%5Btw%5D+(disease+OR+syndrome+OR+%22bone+necrosis%22) M93.2 3314 disease Aseptic necrosis of phalangeal epiphyses Aseptische Osteonekrose der Phalangenepiphysen Doença epifisária de Thiemann Epifisária de Thiemann, doença Necrosi asettica delle epifisi delle falangi Nécrose aseptique des épiphyses phalangiennes Osteochondritis der Phalangenepiphysen Osteochondritis of phalangeal epiphyses Osteochondrose der Phalangenepiphysen Osteochondrosis of phalangeal epiphyses Osteocondrite delle epifisi delle falangi Osteocondrosi delle epifisi delle falangi Ostéochondrite des épiphyses des phalanges Ostéochondrite des épiphyses phalangiennes Enfermedad de Thiemann, forma familiar Maladie de Thiemann familiale Malattia di Thiemann, forma familiare Osteo-artropatia dos dedos, familiar Thiemann disease, familial form Thiemann-Krankheit, familiäre Form hrdo:pat_id_2946 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance C536514 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Potter+AND+Thomas%5Btw%5D+AND+cleft Q87.8 3316 C2931225 malformation syndrome Potter sequence - cleft lip/palate - cardiopathy Potter, sequência de - fenda - cardiopatia Potter-Sequenz - Lippen- oder Gaumenspalte - Kardiopathie Secuencia de Potter - fisura - cardiopatía Sequenza di Potter - schisi - cardiopatia Sequência de Potter - fenda - cardiopatia Séquence de Potter - fente - cardiopathie Sindrome di Thomas Syndrome de Thomas Síndrome de Thomas Síndrome de Thomas Thomas syndrome Thomas-Syndrom hrdo:pat_id_2947 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 187760 187770 C536517 neant Q77.2 3317 C1861197 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Barnes syndrome Barnes-Syndrom Disostosis toraco-pélvica Displasia toraco-laringo-pélvica Sindrome di Barnes Syndrome de Barnes Thorax-Larynx-Becken-Dysplasie Disostose toraco-pélvica Displasia toraco-laringo-pelvica Displasia toraco-laringo-pélvica Dysostose, thorakopelvine Dysplasie thoraco-laryngo-pelvienne Thoracolaryngopelvic dysplasia hrdo:pat_id_2949 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300240 C536068 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Hoyeraal+Hreidarsson%5Btw%5D+OR+((cerebellum%2Fab+OR+%22cerebellar+hypoplasia%22)+pancytopenia+(immunodeficiency+OR+microcephaly)+NOT+dyskeratosis+congenita) D61.0 3322 C1846142 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hoyeraal, síndrome de Pancitopenia progresiva - inmunodeficiencia - hipoplasia cerebelosa Pancitopenia progressiva - immunodeficienza - ipoplasia cerebellare Pancytopénie progressive - déficit immunitaire - hypoplasie cérébelleuse Panzytopenie, progressive - Immundefekt - Kleinhirnhypoplasie Progressive pancytopenia - immunodeficiency - cerebellar hypoplasia Síndrome de Hoyeraal Hoyeraal-Hreidarsson syndrome Hoyeraal-Hreidarsson-Syndrom Sindrome di Hoyeraal-Hreidarsson Syndrome de Hoyeraal-Hreidarsson Síndrome de Hoyeraal-Hreidarsson Trombocitopenia - hipoplasia cerebelar - baixa estatura hrdo:pat_id_2950 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance C536898 3323 C2931364 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Braddock-Carey syndrome Braddock-Carey, síndrome de Braddock-Carey-Syndrom Sindrome di Braddock-Carey Syndrome de Braddock-Carey Síndrome de Braddock-Carey Síndrome de Braddock-Carey Thrombocytopenia - Robin sequence Thrombocytopénie - syndrome de Pierre Robin Thrombozytopenie - Pierre-Robin-Sequenz Trombocitopenia - sequência de Robin Trombocitopenia - sindrome di Pierre Robin Trombocitopenia - síndrome de Pierre Robin hrdo:pat_id_2951 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 274265 C536907 neant Q87.8 3326 C1848812 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia de timo - riñón - ano - pulmón Displasia timo-rene-ano-polmone Displasia timo-reno-ano-pulmonar Dysplasie thymus-rein-anus-poumon Thymic-renal-anal-lung dysplasia Thymus-Nieren-Anus-Lungendysplasie hrdo:pat_id_2952 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 274240 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=thyrocerebral+kidney+syndrome 3327 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cutle-Bass-Romshe-Syndrom Cutler-Bass-Romshe syndrome Cutler-Bass-Romshe, síndrome de Sindrome di Cutler-Bass-Romshe Syndrome de Cutler-Bass-Romshe Síndrome de Cutler-Bass-Romshe Síndrome de Cutler-Bass-Romshe Sindrome tiro-cerebro-renale Syndrome thyro-cérébro-renal Síndrome tireo-cerebro-renal Síndrome tiro-cerebro-renal Thyreo-zerebro-renales Syndrom Thyrocerebrorenal syndrome hrdo:pat_id_2953 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601027 C536918 3328 C2931368 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Holmes-Collins syndrome Holmes-Collins, síndrome de Holmes-Collins-Syndrom Sindrome di Holmes-Collins Syndrome de Holmes-Collins Síndrome de Holmes-Collins Absent tibia - polydactyly - arachnoid cyst Agenesia della tibia - polidattilia - cisti aracnoidea Ausência da tíbia - polidactilia - quisto aracnóideu Tibia absent - polydactylie - kyste arachnoïdien Tibia ausente - polidactilia - quiste aracnoideo Tibia, fehlende - Polydaktylie - arachnoide Zysten hrdo:pat_id_2954 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 119100 610685 612576 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(tibia%2Fab+OR+Tibial)+(aplas*+OR+absen*+OR+agenesis)+(ectrodactyly+OR+split+hand+OR+split+foot) Q73.8 3329 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Aplasia da tíbia com deformação da mão ou do pé fendidos Aplasia of tibia with split-hand/split-foot deformity Aplasie du tibia avec une anomalie des mains et pieds fendus Fenda da mão - ausência da tíbia Hemimelia tibial com malformação da mão e do pé fendidos (TH-SHFM) Hémimélie tibiale avec une malformation des mains et pieds fendus Malformation des mains et pieds fendus associée à une aplasie des os longs Malformation des mains et pieds fendus avec une anomalie des os longs Malformação da mão/pé fendidos (SHFM) associada com aplasia de ossos longos Malformação da mão/pé fendidos com deficiência dos ossos longos SHFLD syndrome SHFM associated with aplasia of long bones Schisi della mano - agenesia della tibia Split hand/foot malformation with long bone deficiency Split-hand/foot malformation associated with aplasia of long bones Syndrome SHFLD Syndrome d'hémimélie tibiale-ectrodactylie Síndrome de SHFLD Síndrome hemimelia-ectodractilia tibial TH-SHFM Tibial hemimelia with split hand/foot malformation Tibial hemimelia-ectrodactyly syndrome Aplasia da tíbia - ectrodactilia Aplasia della tibia - ectrodattilia Aplasia tibial - ectrodactilia Tibia aplasique - ectrodactylie Tibiaaplasie - Ektrodaktylie Tibial aplasia - ectrodactyly hrdo:pat_id_2956 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 188770 neant Q74.8 3332 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Syndrome mésomélique de Werner Síndrome mesomélico de Werner Tibia-Polydaktylie-Syndrom Werner mesomelic syndrome Hipoplasia de la tibia - polidactilia postaxial Hypoplastic tibiae - postaxial polydactyly Ipoplasia della tibia - polidattilia postassiale Tibia hypoplasique - polydactylie Tibia, hypoplastische - postaxiale Polydaktylie Tíbias hipoplasticas - polidactilia pós-axial hrdo:pat_id_2957 neant 3333 disease Sindrome di Spellacy-Gibbs-Watts Skelettdysplasie - Teleangiektasie - mesodermale Dysgenesie der Iris Spellacy-Gibbs-Watts syndrome Spellacy-Gibbs-Watts, síndrome de Spellacy-Gibbs-Watts-Syndrom Syndrome de Spellacy-Gibbs-Watts Síndrome de Spellacy-Gibbs-Watts Bindegewebsdysplasie Typ Spellacy Connective tissue dysplasia, Spellacy type Displasia del tejido conjuntivo, tipo Spellacy Displasia del tessuto connettivo, tipo Spellacy Displasia do tecido conjuntivo tipo Spellacy Dysplasie du tissu conjonctif type Spellacy hrdo:pat_id_2960 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 3336 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome di Tome-Brune-Fardeau Syndrome de Tomé-Brunet-Fardeau Síndrome de Tome-Brune-Fardeau Síndrome de Tomé-Brunet-Fardeau Tome-Brune-Fardeau-Syndrom Tomé-Brunet-Fardeau syndrome hrdo:pat_id_2961 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 217980 neant Q87.8 3338 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Agenesia del corpo calloso - blefarofimosi - sequenza di Pierre Robin Agénésie du corps calleux - blépharophimosis - séquence de Robin Corpo caloso, agenesia do - blefarofimose - sequência de Robin Corpus callosum agenesis - blepharophimosis - Robin sequence Corpus-callosum-Agenesie - Blepharophimosis - Pierre-Robin-Sequenz Sindrome di Toriello-Carey Syndrome de Toriello-Carey Síndrome de Toriello-Carey Síndrome de Toriello-Carey Toriello-Carey syndrome Toriello-Carey-Syndrome hrdo:pat_id_2962 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 600268 3339 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Aplasia cutanea congenita - dermoidi epibulbari Aplasia cutis congenita - epibulbar dermoids Aplasia cutis congenita mit epibulbären Dermoid Aplasia cutânea congénita - dermoídes epibolbares Aplasie cutanée congénitale - dermoïdes épibulbaires Oculoectodermal syndrome Sindrome di Toriello-Lacassie-Droste Syndrome de Toriello-Lacassie-Droste Síndrome de Toriello-Lacassie-Droste Síndrome de Toriello-Lacassie-Droste Toriello-Lacassie-Droste syndrome Toriello-Lacassie-Droste-Syndrom hrdo:pat_id_2963 3340 malformation syndrome Sindrome di Torres-Aybar Syndrome de Torres-Aybar Síndrome de Torres-Aybar Síndrome de Torres-Ayber Torres-Aybar syndrome Torres-Ayber-Syndrom hrdo:pat_id_2964 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 314300 C536970 neant Q87.8 3341 C1839129 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Torcicollo - cheloidi - criptorchidismo Torcicolo - quelóides - criptorquidia - displasia renal Torticolis - chéloïdes - cryptorchidisme Torticollis - Keloid - Kryptoorchidie - Nierendysplasie Torticollis - keloids - cryptorchidism - renal dysplasia Tortícolis - queloides - criptorquidismo - displasia renal hrdo:pat_id_2965 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 208050 neant I73.8 3342 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ATS ATS ATS ATS ATS ATS Arterial-Tortuosity-Syndrom Syndrome de flexuosité artérielle Arterial tortuosity syndrome Arterien, geschlängelte Sindrome da tortuosità delle arterie Syndrome de tortuosité artérielle Síndrome de tortuosidad arterial Síndrome de tortuosidade arterial hrdo:pat_id_2966 112350 C537082 Q77.8 3344 malformation syndrome Síndrome de Weismann-Netter Toxo-pachy-ostéose diaphysaire Toxopaquiosteosis diafisaria tibio-peroneal Weismann-Netter, síndrome de Weismann-Netter-Syndrom Syndrome de Weismann-Netter-Stuhl Síndrome de Weismann-Netter Toxopachiostosi diafisaria tibioperoneale Toxopachyosteose, diaphysäre Toxopaquiosteose das diáfises da tíbia e perónio Weismann-Netter syndrome hrdo:pat_id_2967 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 275300 D014137 10044316 neant J98.0 3347 57451009 C0040587 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Mounier-Kuhn syndrome Mounier-Kuhn, síndrome de Mounier-Kuhn-Syndrom Sindrome di Mounier-Kuhn Syndrome de Mounier-Kuhn Síndrome de Mounier-Kuhn Síndrome de Mounier-Kuhn Tracheobronchomegalie Tracheobronchomegaly Tracheobroncomegalia Trachéobronchomégalie Traqueo-broncomegalia Traqueobroncomegalia hrdo:pat_id_2968 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter C536544 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=optic+atrophy+deafness+dystaxia+myopathy 3349 C2931235 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atrofia ottica - oftalmoplegia - ptosi - sordità - miopatia Atrofia óptica - oftalmoplegia - ptose - surdez - miopia Atrofia ótica - oftalmoplegia - ptose - surdez - miopia Atrophie optique - ophtalmoplégie - ptosis - surdité - myopathie Optic atrophy - ophthalmoplegia - ptosis - deafness - myopathy Optikusatrophie - Ptosis - Ophthalmoplegie - Myopathie - Taubheit Sindrome di Treft-Sanborn-Carey Syndrome de Treft-Sanborn-Carey Síndrome de Treft-Sanborn-Carey Síndrome de Treft-Sanborn-Carey Treft-Sanborn-Carey syndrome Treft-Sanborn-Carey-Syndrom hrdo:pat_id_2969 190310 3350 disease Neuhauser-Daly-Magnelli syndrome Neuhauser-Daly-Magnelli, síndrome de Neuhauser-Daly-Magnelli-Syndrom Sindrome di Neuhauser-Daly-Magnelli Syndrome de Neuhauser-Daly-Magnelli Síndrome de Neuhauser-Daly-Magnelli Síndrome de Neuhauser-Daly-Magnelli Temblor esencial - nistagmo - úlcera Tremblement essentiel - nystagmus - ulcère Tremor - nistagmo - úlcera duodenal Tremor - nystagmus - duodenal ulcer Tremor, essentieller - Nystagmus - Ulkus Tremore essenziale - nistagmo - ulcera hrdo:pat_id_297 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 119530 129400 225060 600625 600757 602966 608371 608864 608874 610361 612858 613705 613857 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22cleft+lip%22%5BMeSH+Terms%5D+OR+%28cleft+lip%5BText+Word%5D+NOT+medline%5BSB%5D%29 Q36 Q37 1991 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel clinical syndrome 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 Fente 1,2 de Tessier Fisura labial con o sin Fisura palatina Tessier cleft number 1,2 Cleft lip with or without cleft palate Fenda labial com ou sem fenda palatina Fente labiale avec ou sans fente palatine Hendidura labial con o sin hendidura palatina Lippenspalte mit oder ohne Gaumenspalte Schisi labiale con o senza schisi palatina hrdo:pat_id_2970 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 601453 C536551 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Trichodental%5BAll+Fields%5D 3351 277810000 C0406724 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Kersey syndrome Kersey, síndrome de Kersey-Syndrom Sindrome di Kersey Syndrome de Kersey Síndrome de Kersey Síndrome de Kersey Trichodentale Dysplasie Sindrome tricodentale Syndrome tricho-dentaire Síndrome trico-dental Síndrome trico-odontico Trichodental syndrome Trichodentales Syndrom hrdo:pat_id_2971 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 190320 C536549 neant Q82.4 3352 38993008 C0265333 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome TDO Síndrome TDO TDO syndrome TDO, síndrome TDO-Syndrom Sindrome trico-dento-ossea Syndrome tricho-dento-osseux Síndrome trico-dento-óseo Síndrome trico-dento-ósseo Tricho-dento-osseous syndrome Tricho-dento-ossäres Syndrom hrdo:pat_id_2972 3353 malformation syndrome Pinheiro-Freire Maia-Miranda syndrome Pinheiro-Freire Maia-Miranda, síndrome de Pinheiro-Freire-Maia-Miranda-Syndrom Sindrome di Pinheiro-Freire-Maia-Miranda Syndrome de Pinheiro-Freire-Maia-Miranda Síndrome de Pinheiro-Freire Maia-Miranda Síndrome de Pinheiro-Freire-Maia-Miranda Dysplasie, trichodermale mit Zahnveränderungen Sindrome trico-dermo-dentale Syndrome tricho-dermo-dentaire Síndrome trico-dermo-dental Trichodermodysplasia - dental alterations Trico-dermodisplasia - alterações dentárias hrdo:pat_id_2973 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601701 3354 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Alves-dos Santos-Castello-Syndrom Alves-dos Santos-Castelo syndrome Alves-dos Santos-Castelo, síndrome de Displasia ectodermica - cataratta - cifoscoliosi Displasia ectodérmica - cataratas - cifoscoliose Dysplasie ectodermique - cataracte - cyphoscoliose Dysplasie, ektodermale, mit Katarakt und Kyphoskoliose Ectodermal dysplasia - cataracts - kyphoscoliosis Sindrome di Alves-Dos Santos-Castello Syndrome d'Alves-dos Santos-Castello Síndrome de Alves-dos Santos-Castello Síndrome de Alves-dos Santos-Castelo Sindrome trico-oculo-dermo-vertebrale Syndrome tricho-oculo-dermo-vertebral Síndrome trico-oculo-dermo-vertebral Síndrome trico-oculo-dermo-vertebral Tricho-oculo-dermo-vertebral syndrome Tricho-oculo-dermo-vertebrales Syndrom hrdo:pat_id_2974 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 275450 3355 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dysplasie tricho-odonto-onychiale - anomalie des os fronto-pariétaux Tricho-odonto-onychial dysplasia with bone deficiency in frontoparietal region Displasia trico-dento-ungueale Displasia trico-odonto-oniquial Displasia trico-odonto-ungueal Dysplasie tricho-odonto-onychiale Tricho-Odonto-Onycho-Dysplasie Tricho-odonto-onychial dysplasia hrdo:pat_id_2976 3357 malformation syndrome Sindrome di Trueb-Burg-Bottani Syndrome de Trueb-Burg-Bottani Síndrome de Trueb-Burg-Bottani Trueb-Burg-Bottani syndrome Trueb-Burg-Bottani-Syndrom Displasia trico-odonto-onico - sindactilia dominante Displasia trico-odonto-ungueal - sindactilia, dominante Dysplasie tricho-odonto-onycho - syndactylie, autosomique dominante Tricho-Odonto-Onycho-Dysplasie - dominante Syndaktylie Tricho-odonto-onychodysplasia - dominant syndactyly Trico-dento-onico-displasia - sindattilia dominante hrdo:pat_id_2979 190360 3361 malformation syndrome Haardysplasie mit Xerodermie Trichodysplasia - xeroderma Trichodysplasie - xérodermie Tricodisplasia - xeroderma Tricodisplasia - xerodermia Tricodisplasia xerodermia hrdo:pat_id_2980 190330 Q87.8 3362 malformation syndrome Goldstein-Hutt syndrome Goldstein-Hutt, síndrome de Goldstein-Hutt-Syndrom Sindrome di Goldstein-Hutt Syndrome de Goldstein-Hutt Síndrome de Goldstein-Hutt Síndrome de Goldstein-Hutt Trichomegalie - Katarakt - hereditäre Sphärozytose Trichomegaly - cataract - hereditary spherocytosis Trichomégalie - cataracte - sphérocytose Tricomegalia - catarata - esferocitose hereditária Tricomegalia - cataratas - esferocitosis Tricomegalia - cataratta - sferocistosi hrdo:pat_id_2981 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 275400 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Oliver+mcfarlane%5Btw%5D 3363 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Ciglia lunghe - ritardo mentale Cils longs - déficit intellectuel Long eyelashes - intellectual deficit Oliver-McFarlane syndrome Oliver-McFarlane, síndrome de Oliver-McFarlane-Syndrom Pestanas longas - atraso mental Pestañas largas - déficit intelectual Sindrome di Oliver-McFarlane Syndrome d'Oliver-McFarlane Síndrome de Oliver-Macfarlane Síndrome de Oliver-McFarlane Trichomegalie - retinale Pigmentdegeneration - Kleinwuchs Trichomegaly - retina pigmentary degeneration - dwarfism Trichomégalie - rétine dégénérescente - retard de croissance Tricomegalia - degeneración retiniana - retraso de crecimiento Tricomegalia - degenerazione della retina - ritardo della crescita Tricomegalia - degenerescência pigmentar da retina - nanismo hrdo:pat_id_2982 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q82.0 3365 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hunter-Rudd-Hoffmann syndrome Hunter-Rudd-Hoffmann, síndrome de Hunter-Rudd-Hoffmann-Syndrom Sindrome di Hunter-Rudd-Hoffmann Syndrome de Hunter-Rudd-Hoffmann Síndrome de Hunter-Rudd-Hoffmann Síndrome de Hunter-Rudd-Hoffmann Trigonocefalia - polegares largos Trigonocefalia - pollici larghi Trigonocefalia - pulgares ensanchados Trigonocephaly - broad thumbs Trigonocéphalie - anomalies des extrémités Trigonozephalie - breite Daumen hrdo:pat_id_2983 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 190440 614485 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Trigonocephaly%5Bti%5D+(isolated+OR+nonsyndromic+OR+familial%5Bti%5D+OR+%22non+syndromic%22) Q75.0 3366 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Craniosinostosi metopica non sindromica Craniosynostose non syndromique de la suture métopique Kraniosynostose, metopische, nicht-syndromale Nonsyndromic metopic craniosynostosis Isolated trigonocephaly Trigonocefalia Trigonocefalia aislada Trigonocefalia isolata Trigonocéphalie isolée Trigonozephalie, isolierte hrdo:pat_id_2985 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 275595 neant Q87.0 3368 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Trigonocefalia - nariz bífida - anomalías de las extremidades Trigonocefalia - nariz bífido - anomalias acrais Trigonocefalia - naso bifido - anomalie delle estremità Trigonocephaly - bifid nose - acral anomalies Trigonocéphalie - nez bifide - anomalies des extrémités Trigonozephalie - bifide Nase - akrale Anomalien hrdo:pat_id_2986 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis 314320 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Trigonocephaly+short+stature+developmental+delay%29+OR+%28Hunter+AND+trigonocephaly%29 Q87.0 3369 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Say-Meyer syndrome Say-Meyer, síndrome de Say-Meyer-Syndrom Sindrome di Say-Meyer Syndrome de Say-Meyer Síndrome de Say-Meyer Síndrome de Say-Meyer Trigonocefalia - baixa estatura - atraso do desenvolvimento Trigonocefalia - bassa statura - ritardo della crescita Trigonocefalia - talla baja - retraso de crecimiento Trigonocephaly - short stature - developmental delay Trigonocéphalie - petite taille - retard de croissance Trigonozephalie - Kleinwuchs - Entwicklungsverzögerung hrdo:pat_id_2989 3374 morphological anomaly Triopia Triopia Triopia Triopie Triopie Triopía hrdo:pat_id_299 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 122470 300590 300882 610759 614701 D003635 10056354 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%22de+lange+syndrome%22%5BTIAB%5D+NOT+Medline%5BSB%5D%29+OR+%22de+lange+syndrome%22%5BMeSH+Terms%5D+OR+Cornelia+de+Lange+syndrome%5BText+Word%5D Q87.1 199 40354009 C0270972 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Brachman-de Lange, síndrome de Brachmann-de Lange syndrome Brachmann-de Lange-Syndrom Sindrome di Brachmann-de Lange Syndrome de Brachmann-de Lange Síndrome de Brachman-de Lange Cornelia de Lange syndrome Cornelia de Lange-Syndrom Sindrome di Cornelia de Lange Syndrome de Cornelia de Lange Síndrome de Cornelia de Lange Síndrome de Cornelia de Lange (CdLS) hrdo:pat_id_2990 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 158300 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Trismus+pseudocamptodactyly+OR+%28Hecht%5Bti%5D+syndrome%29+NOT+contractural+arachnodactyly%5Bti%5D M24.5 Q68.1 3377 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Arthrogrypose distale type 7 Arthrogrypose, distale, Typ 7 Artrogripose distal tipo 7 Artrogriposi distale, tipo 7 Artrogriposis distal tipo 7 Distal arthrogryposis type 7 Dutch-Kentucky syndrome Hecht syndrome Hecht, síndrome de Hecht-Beals syndrome Hecht-Syndrom Sindrome di Hecht Syndrome de Dutch-Kentucky Syndrome de Hecht Syndrome de Hecht-Beals Síndrome de Dutch-Kentucky Síndrome de Hecht Síndrome de Hecht Síndrome de Hecht-Beals Trisma - pseudocamptodattilia Trismo - pseudocamptodactilia Trismus - Pseudokamptodaktylie Trismus - pseudocamptodactilia Trismus - pseudocamptodactylie Trismus - pseudocamptodactyly hrdo:pat_id_2991 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Trisomy+19q%5Bti%5D+OR+duplication+19q*%5Bti%5D+OR+((%22chromosome+19%22+OR+Pair+19%5Btw%5D)+%2219q%22+trisomy))+NOT+monosomy+18q*%5Bti%5D Q92.3 1717 malformation syndrome Distal duplication 19q Duplication distale 19q Duplication télomérique 19q Duplicazione 19q distale Duplicazione 19q telomerica Telomeric duplication 19q Trisomia 19qter Trisomie 19q Trisomie 19qter Trisomy 19qter Trisomía 19q Trissomia 19q Distal trisomy 19q Duplicación 19q Duplicação 19q Duplikation 19q Trisomia 19q distale Trisomie distale 19q hrdo:pat_id_2992 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(mosaic*%5Bti%5D+(%22Trisomy+2+%22+OR+chromosome+2%5Bti%5D))+OR+(Chromosomes,+Human,+Pair+2%5Bmh%5D+trisomy%5Bmh%5D+mosaicism) Q92.1 1723 malformation syndrome Mosaic trisomy 2 Mosaik-Trisomie 2 Trisomia 2 in mosaico Trisomie 2 en mosaïque Trisomía 2 en mosaico Trissomia 2 em mosaico hrdo:pat_id_2993 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(mosaic*%5Bti%5D+(%22Trisomy+20%22+OR+chromosome+20%5Bti%5D))+OR+(Chromosomes,+Human,+Pair+20%5Bmh%5D+trisomy%5Bmh%5D+mosaicism) Q92.1 1724 malformation syndrome Mosaic trisomy 20 Mosaik-Trisomie 20 Trisomia 20 in mosaico Trisomie 20 en mosaïque Trisomía 20 en mosaico Trissomia 20 em mosaico hrdo:pat_id_2994 C537822 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(mosaic*%5Bti%5D+(%22Trisomy+7%22+OR+chromosome+7%5Bti%5D))+OR+(Chromosomes,+Human,+Pair+7%5Bmh%5D+trisomy%5Bmh%5D+mosaicism) Q92.1 1747 C2931631 malformation syndrome Mosaic trisomy 7 Mosaik-Trisomie 7 Trisomia 7 in mosaico Trisomie 7 en mosaïque Trisomía 7 en mosaico Trissomia 7 em mosaico hrdo:pat_id_2996 191000 neant Q74.0 3383 malformation syndrome Aplasia da tróclea do húmero Aplasia de la tróclea del húmero Aplasia della troclea dell'omero Aplasie de la trochlée de l'humérus Humerus trochlea aplasia Trochlea humeri-Aplasie hrdo:pat_id_2997 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 217095 neant Q20.0 3384 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Common aortico-pulmonary trunk Common arterial trunk TAC TAC Malformação do tronco arterial Tronc artériel commun Tronco arterial común Tronco arterioso comune Truncus arteriosus Truncus arteriosus communis hrdo:pat_id_2998 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 600457 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Anterior+cervical+hypertrichosis%5Btw%5D+OR+Hairy+throat%5Btw%5D L68.2 3387 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hairy throat syndrome Hairy-throat-Syndrom Sindrome da irsutismo anteriore del collo Sindrome di Tsukahara-Kajii Syndrome de Tsukahara-Kajii Syndrome de la gorge poilue Síndrome de Tsukahara-Kajii Tsukahara-Kajii syndrome Tsukahara-Kajii, síndrome de Hipertricose cervical anterior Hipertricosis cervical anterior aislada Hypertrichose cervicale antérieure isolée Hypertrichose, ventrale zervikale, isolierte Ipertricosi cervicale anteriore isolata Isolated anterior cervical hypertrichosis hrdo:pat_id_2999 neant 3388 group of phenomes Anomalie di chiusura del tubo neurale Anomalie du tube neural Anomalías de cierre del tubo neural Defeitos do tubo neural Neural tube defect Neuralrohrdefekt hrdo:pat_id_3 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 248500 D008363 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=alpha+mannosidosis%5Bmh%5D+OR+alpha+mannosidosis%5Bti%5D E77.1 61 124466001 C0024748 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Alfa-D-manosidase lisossomal, deficiência de Alpha-D Mannosidase-Mangel, lyosomaler Deficit di alfa-D-mannosidosi lisosomiale Deficiência de alfa-D-manosidase lisossomal Déficit de alfa-D-manosidasa lisosomal Déficit en alpha-D-mannosidase lysosomale Lysosomal alpha-D-mannosidase deficiency Alfa-mannosidosi Alfa-manosidose Alfa-manosidosis Alpha-Mannosidose Alpha-mannosidose Alpha-mannosidosis hrdo:pat_id_3000 129550 neant 3391 malformation syndrome Displasia ectodermica - cisti surrenali Displasia ectodérmica - quisto supra-renal Displasia ectodérmica - quisto suprarrenal Displasia ectodérmica quiste adrenal Dysplasie ectodermique - kyste adrénal Dysplasie, ektodermale - Nebennierenzysten Ectodermal dysplasia - adrenal cyst Sindrome di Tuffli-Laxova Syndrome de Tuffli-Laxova Síndrome de Tuffli-Laxova Tuffli-Laxova syndrome Tuffli-Laxova, síndrome de Tuffli-Laxova-Syndrom Displasia odonto-onico-hipoidrótica - anomalias da linha média do couro cabeludo Displasia odonto-onico-ipoidrotica, difetti della linea mediana del cranio Dysplasie odonto-onycho-hypohidrotique - anomalies du cuir chevelu Dysplasie, odonto-onycho-hypohidrotische - Kopfhautdefekte Odonto-onycho-hypohidrotic dysplasia - midline scalp defects Tuffli Laxova, síndrome de hrdo:pat_id_3001 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 107970 C536932 10048951 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Uhl+anomaly%5BTi%5D+OR+uhl%27s+disease%5Bti%5D+OR+uhl%27s+anomaly%5Bti%5D Q24.8 3403 2829000 C0265857 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anomalia Uhl Anomalia di Uhl Anomalie d'Uhl Anomalía de Uhl Uhl anomaly Uhlsche Anomalie hrdo:pat_id_3002 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 266910 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Limb+phocomelia+renal+dysplasia+pulmonary+hypoplasia+OR+%28Ulbright+CE+AND+hodes+AND+Ulbright+TM%29 Q87.8 3404 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia renal - anomalias dos membros Displasia renal - mesomelia - fusão radio-humeral Displasia renale - anomalie degli arti Displasia renale - fusione mesomelica radio-omerale Dysplasie rénale - anomalie des membres Dysplasie rénale - mésomélie - fusion radio-humérale Nierendysplasie - Gliedmaßendefekten Nierendysplasie - Mesomelie - Radio-humerale Synostose   Renal dysplasia - limb defects Renal dysplasia - mesomelia - radiohumeral fusion Sindrome di Ulbright-Hodes Syndrome d'Ulbright-Hodes Síndrome de Ulbright-Hodes Síndrome de Ulbright-Hodes Ulbright-Hodes syndrome Ulbright-Hodes-Syndrom hrdo:pat_id_3004 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis 191520 C536472 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Upington+dyschondroplasia M91.8 3408 C1860596 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dysplasie de la hanche - enchondromatose - echondromatose Hip dysplasia - enchondromata - ecchondroma Doença de Upington Enfermedad de Upington Maladie d'Upington Malattia di Upington Upington disease Upington-Krankheit hrdo:pat_id_3005 264010 neant Q87.8 3409 malformation syndrome Atraso mental - baixa estatura - contraturas da mão - anomalias genitais Déficit intelectual - talla baja - manos contracturas Déficit intellectuel - petite taille - mains contracturées - anomalies génitales Geistige Retardierung - Kleinwuchs - Handkontrakturen - Genitalanomalien Habitus Prader-Willi - osteopenia - camptodattilia Intellectual deficit - short stature - hand contractures - genital anomalies Prader-Willi habitus - osteopenia - camptodactyly Prader-Willi habitus - ostéopénie - camptodactylie Prader-Willi-Habitus - Osteopenie - Kamptodaktylie Ritardo mentale - bassa statura - contratture delle mani - anomalie genitali Sindrome di Urban-Rogers-Meyer Syndrome d'Urban-Rogers-Meyer Síndrome de Urban-Rogers-Meyer Síndrome de Urban-Rogers-Meyer Urban-Rogers-Meyer syndrome Urban-Rogers-Meyer-Syndrom hrdo:pat_id_3007 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 276950 314390 neant Q87.8 3412 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome di Sujansky-Leonard Sujansky-Leonard syndrome Sujansky-Leonard, síndrome de Sujansky-Leonard-Syndrom Syndrome de Sujansky-Leonard Síndrome de Sujansky-Leonard Síndrome de Sujansky-Leonard Associação VACTERL - hidrocefalia VACTERL - hydrocéphalie VACTERL con hidrocefalia VACTERL con idrocefalo VACTERL with hydrocephalus VACTERL-Assoziation mit Hydrozephalus hrdo:pat_id_3009 109730 614823 10004552 neant Q23.1 1244 72352009 C0149630 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Aortenklappe, bikuspide Bicuspid aortic valve Bicuspidie valvulaire aortique Bicúspide valvular aórtica Valvola aortica bicuspide Válvula aórtica bicúspide hrdo:pat_id_301 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 142945 142946 157170 236100 605934 609408 609637 610828 610829 612530 614226 D016142 10056304 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28holoprosencephaly%5Bmh%5D+OR+Holoprosencephaly%5Bti%5D%29+NOT+%28mice%5Bmh%5D+OR+mouse%5Btw%5D%29 Q04.2 2162 30915001 C0079541 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown HPE HPE HPE HPE HPE Holoprosencefalia Holoprosencefalia Holoprosencephaly Holoprosencéphalie Holoprosenzephalie Oloprosencefalia hrdo:pat_id_3010 239100 607636 neant M85.2 3416 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Enfermedad de Van Buchem Maladie de Van Buchem Malattia di Van Buchem Van Buchem disease Van Buchem-Syndrom Hiperostose cortical generalizada Hiperostosis cortical generalizada Hyperostose corticale généralisée Hyperostosis corticalis generalisata Hyperostosis corticalis generalisata Iperostosi corticale generalizzata hrdo:pat_id_3011 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 600920 neant Q87.0 2460 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Marden-Walker-like syndrome Marden-Walker-ähnliches Syndrom Sindrome simil-Marden-Walker Syndrome de Marden-Walker-like Síndrome de Marden-Walker like VDEGS VDEGS VDEGS VDEGS VDEGS Sindrome di Van den Ende-Gupta Syndrome de Van den Ende-Gupta Síndrome Marden-Walker-like Síndrome de Van den Ende-Gupta Van den Ende-Gupta syndrome Van den Ende-Gupta-Syndrom hrdo:pat_id_3012 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis 314500 3417 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome di Van der Bosch Syndrome de Van der Bosch Síndrome de Van den Bosch Síndrome de Van der Bosch Van den Bosch syndrome Van den Bosch-Syndrom hrdo:pat_id_3014 3419 disease Sindrome di Van Regemorter-Pierquin-Vamos Syndrome de Van Regemorter-Pierquin-Vamos Síndrome de Van Regemorter-Pierquin-Vamos Síndrome de Van Regemorter-Pierquin-Vamos Van Regemorter-Pierquin-Vamos syndrome Van-Regemorte-Pierquin-Vamos-Syndrom hrdo:pat_id_3015 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 192315 3421 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CRV CRV Grand-Kaine-Fulling syndrome Grand-Kaine-Fulling, síndrome de Grand-Kaine-Fulling-Syndrom Sindrome di Grand-Kaine-Fulling Syndrome de Grand-Kaine-Fulling Síndrome de Grand-Kaine-Fulling Síndrome de Grand-Kaine-Fulling Cerebroretinal vasculopathy Vasculopathie cérébro-rétinienne Vasculopatia cerebro-retiniana Vasculopatia cerebroretinica Vasculopatía cerebrorretiniana Vaskulopathie, zerebro-retinale hrdo:pat_id_3016 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 309580 C536533 neant 3423 C2931231 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hipogonadismo - ginecomastia - atraso mental ligado ao X Hypogonadism - gynecomastia - X-linked intellectual deficit Hypogonadisme-gynécomastie-déficit intellectuel, lié à l'X Hypogonadismus, X-chromosomaler - Gynäkomastie - geistige Retardierung Ipogonadismo legato all'X - ginecomastia - ritardo mentale Sindrome di Vasquez-Hurst-Sotos Syndrome de Vasquez-Hurst-Sotos Síndrome de Vasquez-Hurst-Sotos Síndrome de Vasquez-Hurst-Sotos Vasquez-Hurst-Sotos syndrome Vasquez-Hurst-Sotos-Syndrom hrdo:pat_id_3017 600736 neant Q87.0 3424 malformation syndrome Sindrome velo-facio-scheletrica Syndrome vélo-facio-squelettique Síndrome velo-facio-esquelético Síndrome velo-facio-esquelético Velo-facial-skeletal syndrome Velo-fazio-skeletales Syndrom hrdo:pat_id_302 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 200400 C536011 10036669 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=esophageal+achalasia%5Bmajr%5D+OR+(esophag*%5Bti%5D+achalasia%5Bti%5D) K22.0 930 C0859976 malformation syndrome 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Acalasia primaria Acalasia primitiva Achalasie primaire Achalasie, primäre Primary achalasia Acalasia idiopatica Acalasia idiopática Acalásia esofágica familiar Achalasie oesophagienne idiopathique Achalasie, idiopathische Idiopathic achalasia hrdo:pat_id_3020 215850 C536541 neant Q87.8 3429 C1859082 malformation syndrome Cleft-Limb-Heart malformation syndrome Fehlbildung durch Spaltbildung der Extremitäten und des Herzens Fenda nos membros - cardiopatia, síndrome Fente - coeur et membres malformés Fisura - malformación cardíaca y de los miembros Schisi - malformazione del cuore e degli arti Síndrome fenda nos membros - cardiopatia Sindrome di Verloove-Van Horick-Brubakk Syndrome de Verloove-Van Horick-Brubakk Síndrome de Verloove-Van Horick-Brubakk Síndrome de Verloove-Vanhorick-Brubakk Verloove Vanhorick-Brubakk syndrome Verloove-Vanhorick-Brubakk-Syndrom hrdo:pat_id_3023 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q87.8 3433 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Microcefalia - braquidactilia - cifoscoliose Sindrome di Viljoen-Kallis-Voges Syndrome de Viljoen-Kallis-Voges Síndrome de Viljoen-Kallis-Voges Viljoen-Kallis-Voges syndrome Viljoen-Kallis-Voges-Syndrom Microcefalia - brachidattilia - cifoscoliosi Microcefalia - braquidactilia - cifoescoliosis Microcephaly - brachydactyly - kyphoscoliosis Microcéphalie - brachydactylie - déficit intellectuel Mikrozephalie - Brachydaktylie - Kyphoskoliose Síndrome de Viljoen-Kallis-Voges hrdo:pat_id_3024 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601349 neant Q87.8 3434 malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown MCOPS8 MCOPS8 MCOPS8 MCOPS8 Microcefalia - microftalmia - ectrodactilia de extremidades inferiores - prognatismo Microcefalia - microftalmia - ectrodactilia dos membros inferiores - prognatismo Microcefalia - microftalmia - ectrodattilia degli arti inferiori - prognatismo Microcephaly - Mikrophthalmie - Ektrodaktylie der unteren Extremitäten - Prognathie Microcephaly - microphthalmia - ectrodactyly of lower limbs - prognathism Microcéphalie - microphtalmie - ectrodactylie des membres inférieurs - prognathisme Microftalmia sindromica, tipo 8 Microftalmia sindrómica tipo 8 Microphtalmie syndromique type 8 Mikrophthalmie, syndromale, Typ 8 Sindrome di Viljoen-Smart Syndrome de Viljoen-Smart Syndromic microphthalmia type 8 Síndrome de Viljoen-Smart Síndrome de Viljoen-Smart Viljoen-Smart syndrome Viljoen-Smart, síndrome de Viljoen-Smart-Syndrom MMEP syndrome MMEP-Syndrom Sindrome MMEP Syndrome MMEP Síndrome MMEP Síndrome MMEP hrdo:pat_id_3027 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant 3438 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Biliäre Fehlbildungen - Niereninsuffizienz Cholestatic jaundice - renal tubular insufficiency Cholostase - insuffisance rénale tubulaire Colestasis - insuficiencia renal tubular Icterícia colestática - insuficiência renal tubular Ikterus, cholestatischer - tubuläre Niereninsuffizienz Ittero colestatico - insufficienza renale tubulare Lutz-Richner-Landolt syndrome Lutz-Richner-Landolt, síndrome de Lutz-Richner-Landolt-Syndrom Sindrome di Lutz-Richner-Landolt Syndrome de Lutz-Richner-Landolt Síndrome de Lutz-Richner-Landolt Síndrome de Lutz-Richner-Landolt Anomalie delle vie biliari - insufficienza renale Anomalía de las vías biliares - insuficiencia renal Biliary tract malformation - renal failure Gallenwegsfehlbildung - Nierenversagen Malformação biliar - insuficiência renal tubular Voies biliaires anormales - insuffisance rénale hrdo:pat_id_3028 3441 Sindrome di Waardenburg, tipo Pierpont Síndrome de Waardenburg tipo Pierpont Waardenburg syndrome, Pierpont type Waardenburg tipo Pierpont Waardenburg type Pierpont Waardenburg-Syndrom Typ Pierpont hrdo:pat_id_303 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300700 C537042 H90.5 998 C1845068 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Albinism-deafness syndrome Albinisme - surdité Albinismo - sordità Albinismo con sordera Albinismus - Schwerhörigkeit Síndrome de Albinismo - surdez hrdo:pat_id_3031 277590 3446 malformation syndrome Sindrome Weaver-simile Syndrome de Weaver-like Síndrome Weaver-like Síndrome tipo Weaver Weaver-like syndrome Weaver-ähnliches Syndrom hrdo:pat_id_3032 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q87.8 3448 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome di Weaver-Williams Syndrome de Weaver-Williams Síndrome de Weaver-Williams Síndrome de Weaver-Williams Weaver-Williams syndrome Weaver-Williams-Syndrom hrdo:pat_id_3033 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 277600 608328 613195 614819 D056846 10064963 neant Q87.0 3449 205801004 2884008 C0265313 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Esferofaquia - braquimorfia, síndrome Sferofachia - brachimorfia Spherophakia - brachymorphia Sphärophakie - Brachymorphie Sphérophakie - brachymorphie Síndrome esferofaquia - braquimorfia Sindrome di Weill-Marchesani Syndrome de Weill-Marchesani Síndrome de Weill-Marchesani Síndrome de Weill-Marchesani Weill-Marchesani syndrome Weill-Marchesani-Syndrom hrdo:pat_id_3034 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 277610 neant Q77.7 3450 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia oto-spondilo-megaepifisaria eterozigote Dysplasie hétérozygote oto-spondylo-méga-épiphysaire Heterozygous OSMED Heterozygous otospondylomegaepiphyseal dysplasia OSMED, forma eterozigote OSMED, forme hétérozygote OSMED, heterozygot Oto-spondylo-mega-epiphyseale Dysplasie Pierre Robin sequence - fetal chondrodysplasia Pierre Robin syndrome - fetal chondrodysplasia Pierre Robin-Sequenz - fetale Chondrodysplasie Pierre-Robin, síndrome de - condrodisplasia fetal Sequenza di Pierre Robin - condrodisplasia fetale Sindrome di Pierre Robin - condrodisplasia fetale Syndrome de Pierre Robin - chondrodysplasie Séquence de Pierre Robin - chondrodysplasie Síndrome de Pierre-Robin - condrodisplasia fetal Sindrome di Weissenbacher-Zweymuller Syndrome de Weissenbacher-Zweymuller Síndrome de Weissenbacher-Zweymuller Síndrome de Weissenbacher-Zweymuller Weissenbacher- Zweymuller syndrome Weissenbacher-Zweymüller-Syndrom hrdo:pat_id_3035 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 240300 C538275 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(mucocutaneous+candidiasis+OR+type+1%5Bti%5D)+Autoimmune+polyendocrinopathy E31.0 3453 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown APECED syndrome APECED, síndrome (poliendocrinopatia autoimune - candidíase - distrofia ectodérmica) APECED-Syndrom APS-1 APS1 APS1 APSI APSI Autoimmun-Polyendokrinopathie - Candidose - Ektodermale Dystrophie Autoimmun-polyglanduläres Syndrom Typ 1 Autoimmune hypoparathyroidism - chronic candidiasis - Addison's disease Autoimmune hypoparathyroidism - chronic candidosis - Addison's disease Autoimmune polyendocrine syndrome type 1 Autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy syndrome Autoimmune polyendocrinopathy - candidosis - ectodermal dystrophy syndrome Autoimmune polyglandular syndrome type 1 Autoimmune, PolyEndocrinopathie - Candidose - Ectodermique, Dystrophie Autoimmuner Hypoparathryeoidismus - Kandidiasis - Nebennierenrindeninsuffizienz Autoimmunes-Polyendokrinopathie-Kandidiasis-Ektodermales-Dystrophie-Syndrom Deficit endocrino multiplo - malattia di Addison - candidiasi Déficit endocrinien multiple - maladie d'Addison - candidose Déficit endocrino múltiple - Enfermedad de Addison - candidiasis HAM syndrome Hipoparatiroidismo - Enfermedad de Addison - candidiasis mucocutánea Hipoparatiroidismo autoinmune - candidiasis mucocutánea - Enfermedad de Addison Hypoparathryeoidismus - Addison-Krankheit - mukokutane Candidiasis Hypoparathyroidism - Addison's disease - mucocutaneous candidiasis Hypoparathyroidism - Addison's disease - mucocutaneous candidosis Hypoparathyroïdie auto-immune - candidose chronique - maladie d'Addison Ipoparatiroidismo - malattia di Addison - candidiasi mucocutanea Ipoparatiroidismo autoimmune - candidiasi cronica - malattia di Addison MEDAC syndrome Multiple endocrine deficiency - Addison's disease - candidiasis Multiple endocrine deficiency - Addison's disease - candidosis Poliendocrinopatia autoimmune - candidiasi - distrofia ectodermia sindromica Poliendocrinopatía autoinmune - candidiasis - síndrome de distrofia ectodérmica Sindrome APECED Sindrome HAM Sindrome MEDAC Sindrome poliendocrina autoimmune, tipo 1 Sindrome polighiandolare autoimmune, tipo 1 Syndrome APECED Syndrome HAM Syndrome MEDAC Syndrome polyglandulaire autoimmun type 1 Síndrome APECED Síndrome APECED (Poliendocrinopatía autoinmune - candidiasis - síndrome de distrofia ectodérmica) Síndrome APECED (poliendocrinopatia autoimune - candidíase - distrofia ectodérmica) Síndrome HAM Síndrome MEDAC Síndrome poliendocrino autoinmune tipo 1 Síndrome poliglandular autoinmune tipo 1 Autoimmun-Polyendokrinopathie Typ 1 Autoimmune polyendocrinopathy type 1 Poliendocrinopatia autoimmune, tipo 1 Poliendocrinopatia autoimune tipo 1 Poliendocrinopatía autoinmune tipo 1 Polyendocrinopathie auto-immune type 1 hrdo:pat_id_3036 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 314580 C536703 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Wieacker+Wolff+syndrome%5Btw%5D+OR+%28%28muscle+atrophy%5Btw%5D+OR+amyotrophy%5Btw%5D%29+AND+contracture*%5Btw%5D+AND+oculomotor+apraxia%5Btw%5D%29 G71.8 3454 C0796200 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Contracturas de pies - atrofia muscular - apraxia oculomotora Contractures du pied - atrophie musculaire - apraxie oculomotric Contractures of feet-muscle atrophy-oculomotor apraxia Fußkontrakturen - Muskelatrophie - okulomotorische Apraxie Sindrome di Wieacker-Wolff Syndrome de Wieacker-Wolff Síndrome de Wieacker-Wolff Síndrome de Wieacker-Wolff Wieacker-Wolff syndrome Wieacker-Wolff-Syndrom hrdo:pat_id_3037 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 264090 C536423 neant E34.8 3455 238874008 C0406586 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Neonatal progeroid syndrome Progeroides neonatales Syndrom Progeróide neonatal, síndrome Syndrome progéroïde néonatal Síndrome progeróide neonatal Sindrome di Wiedemann-Rautenstrauch Syndrome de Wiedemann-Rautenstrauch Síndrome de Wiedemann-Rautenstrauch Síndrome de Wiedemann-Rautenstrauch Wiedemann-Rautenstrauch syndrome Wiedemann-Rautenstrauch-Syndrom hrdo:pat_id_3038 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 314600 C536706 10069402 Q87.8 3456 79665007 C0265239 malformation syndrome Cervico-oculo-acoustic syndrome Cervico-oculo-acústico, síndrome Sindrome cervico-oculo-acustica Syndrome cervico-oculo-acoustique Síndrome cervico-oculo-acústico Zerviko-okulo-akustisches Syndrom Sindrome di Wildervanck Syndrome de Wildervanck Síndrome de Wildervanck Síndrome de Wildervanck Wildervanck syndrome Wildervanck-Syndrom hrdo:pat_id_304 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 227010 C535508 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Pigmentation+Disorders/genetics+AND+Hearing+Loss%2C+Sensorineural/genetics E70.3 999 C1856899 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 O'Doherty syndrome O'Doherty, síndrome de O'Doherty-Syndrom Pigmentary disorder with hearing loss Pigmentstörung mit Hörverlust   Syndrome d'O'Doherty Síndrome de O'Doherty Síndrome de O'Doherty Albinismo cutaneo, fenotipo ''ermellino'' Albinismo cutáneo, fenotipo Hermine Albinismo cutâneo fenótipo hermine Albinismus, kutaner, Hermelin-Phänotyp Ermine phenotype Phénotype hermine hrdo:pat_id_3041 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 309585 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28mental+retardation+x+linked+gynaecomastia+obesity%29+OR+%28Wilson-Turner+syndrome%29 3459 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-dominant X-chromosomal-rezessiv X-linked dominant X-linked dominant X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso mental, ligado ao X - ginecomastia - obesidade Déficit intelectual ligado al X - ginecomastia - obesidad Déficit intellectuel lié à l'X - gynécomastie - obésité Geistige Retardierung, X-chromosomale - Gynäkomastie - Adipositas Ritardo mentale - ginecomastia - obesità legata all'X X-linked intellectual deficit - gynecomastia - obesity Sindrome di Wilson-Turner Syndrome de Wilson-Turner Síndrome de Wilson-Turner Síndrome de Wilson-Turner Wilson-Turner syndrome Wilson-Turner-Syndrom hrdo:pat_id_3042 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 259600 C536051 neant Q87.1 3460 254151006 C1850155 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome di Winchester Syndrome de Winchester Síndrome de Winchester Winchester syndrome Winchester-Syndrom Doença de Winchester Sindrome di Torg-Winchester Syndrome de Torg-Winchester Síndrome de Torg-Winchester Torg-Winchester syndrome Torg-Winchester-Syndrom hrdo:pat_id_3045 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 241080 C536742 3464 237616002 C0342286 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Diabete - ipogonadismo - sordità - ritardo mentale Diabetes - hipogonadismo - surdez - atraso mental Diabetes - hypogonadism - deafness - intellectual deficit Diabetes mellitus - Hypogonadismus - Taubheit - geistige Retardierung Diabète - hypogonadisme - surdité - déficit intellectuel Sindrome di Woodhouse-Sakati Syndrome de Woodhouse-Sakati Síndrome de Woodhouse-Sakati Síndrome de Woodhouse-Sakati Woodhouse-Sakati syndrome Woodhouse-Sakati-Syndrom hrdo:pat_id_3046 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 185480 C536747 3465 C0796204 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Congenital suprabulbar paresis Paresi soprabulbare congenita Paresia suprabulbar congénita Parésia suprabolbar congénita Parésia suprabulbar congénita Parésie suprabulbaire congénitale Suprabulbäre Parese, kongenitale Sindrome di Worster-Drought Syndrome de Worster-Drought Síndrome de Worster-Drought Síndrome de Worster-Drought Worster-Drought syndrome Worster-Drought-Syndrom hrdo:pat_id_3047 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 194350 C536751 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=WT+syndrome%5Btw%5D D61.0 3466 C1327917 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome WT arti-sangue Syndrome WT membres-sang Síndrome WT membros-sangue Síndrome WT miembros-sangre WT limb-blood syndrome WT-Gliedmaßen-Blut-Syndrom hrdo:pat_id_3049 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 207770 C536767 Q04.3 3469 277921008 C0431348 C0795952 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atelencefalia Atelencefalia Atelencefalia Atelencephaly Atelenzephalie Atélencéphalie Garcia-Lurie syndrome Syndrome de Garcia-Lurie Aprosencefalia XK XK aprosencefalia XK aprosencephaly XK aprosencéphalie Xk Aprosenzephalie Xk aprosencefalia hrdo:pat_id_305 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 300650 C537043 neant E70.3 H90.5 1000 C1845069 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Albinisme oculaire - surdité sensorielle tardive Albinismo ocular - surdez neuro-sensorial de início tardio Albinismo ocular sordera sensorial tardía Albinismo oculare - sordità sensoriale tardiva Albinismus, okulärer mit spätem Beginn und sensorineuraler Schwerhörigkeit Ocular albinism - late-onset sensorineural deafness hrdo:pat_id_3050 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 279000 C536718 10063689 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=ciliary+motility+disorders%5Bmajr:noexp%5D+AND+young%5Btw%5D 3471 233666007 C0340037 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Azoospermia - infecciones pulmonares - sinusitis Azoospermia - infecções sinopulmonares Azoospermia - infezioni polmonari - sinusite Azoospermia - infeções sinopulmonares Azoospermia - sinopulmonary infections Azoospermie - infections pulmonaires - sinusite Azoospermie mit Lungeninfektion und Sinusitis Sindrome di Young Syndrome de Young Síndrome de Young Síndrome de Young Young syndrome Young-Syndrom hrdo:pat_id_3051 216340 C536719 Q87.8 3472 C1857663 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Cleidocranial dysplasia - micrognathia - absent thumbs Displasia cleido-craniana - micrognatia - ausência de polegares Displasia cleidocraneal - micrognatia - pulgares ausentes Displasia cleidocranica - micrognazia - agenesia dei pollici Dysplasie cleido-crânienne - micrognathisme - pouces absents Dysplasie cleidocraniale - micrognathisme - pouces absents Kleidokraniale Dysplasie mit Mikrognathismus und fehlenden Daumen Sindrome di Yunis-Varon Syndrome de Yunis-Varon Síndrome de Yunis-Varon Síndrome de Yunis-Varon Yunis-Varon syndrome Yunis-Varon-Syndrom hrdo:pat_id_3052 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 135500 Q87.8 3473 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Fibromatose gengival - hepatosplenomegalia - outras anomalias Fibromatose gingivale - hépatosplénomégalie - autres anomalies Fibromatosi gengivale - epatosplenomegalia - altre anomalie Fibromatosis gingival - hepatosplenomegalia - otras anomalías Gingival fibromatosis - hepatosplenomegaly - other anomalies Laband syndrome Laband, síndrome de Laband-Syndrom Sindrome di Laband Syndrome de Laband Síndrome de Laband Síndrome de Laband Sindrome di Zimmerman-Laband Syndrome de Zimmermann-Laband Síndrome de Zimmerman-Laband Síndrome de Zimmermann-Laband Zimmerman-Laband-Syndrom Zimmermann-Laband syndrome hrdo:pat_id_3053 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 604498 C535982 neant D61.0 3319 234482009 C1327915 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis CAMT Thrombozytopenie, amegakaryozytäre, kongenitale Congenital amegakaryocytic thrombocytopenia Thrombocytopénie amégacaryocytaire congénitale Thrombozytopenie, amegakaryozytische, kongenitale Tombocitopenia amegacariocítica Trombocitopenia amegacariocitica congenita Trombocitopenia amegacariocítica congénita hrdo:pat_id_3057 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 608068 D016463 10000748 neant L98.2 3243 84625002 C0085077 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acute febrile neutrophilic dermatosis Dermatose neutrofílica febril aguda Dermatose neutrophile aiguë fébrile Dermatose, akute febrile neutrophile Dermatosi neutrofila acuta febbrile Sindrome di Sweet Sweet syndrome Sweet-Syndrom Syndrome de Sweet Síndrome de Sweet Síndrome de Sweet hrdo:pat_id_3060 603671 C535657 neant Q75.8 1827 C0796182 malformation syndrome Sindrome di Toriello Syndrome de Toriello Síndrome de Toriello Síndrome de Toriello Toriello syndrome Toriello, síndrome de Toriello-Syndrom Acromelic frontonasal dysplasia Displasia fronto nasal acromélica Displasia fronto-nasal acromélica Displasia frontonasale acromelica Dysplasie fronto-nasale acromélique Dysplasie, akromele frontonasale hrdo:pat_id_3061 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance C537506 2352 C2931511 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Kozlowski-Brown-Hardwick syndrome Kozlowski-Brown-Hardwick-Syndrom Sindrome di Kozlowski-Brown-Hardwick Syndrome de Kozlowski-Brown-Hardwick Síndrome de Kozlowski-Brown-Hardwick Síndrome de Kozlowski-Brown-Hardwick hrdo:pat_id_3063 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant 2076 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-dominant X-chromosomal-rezessiv X-linked dominant X-linked dominant X-linked recessive X-linked recessive disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Síndrome de George-Munoz Atraso mental - epilepsia Epilepsia - déficit intelectual, ligado a X Epilepsie - déficit intellectuel, lié à l'X Geistige Retardierung - Epilepsie, X-chromosomal Sindrome di George-Munoz X-linked intellectual deficit - epilepsy hrdo:pat_id_3064 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=oro[All+Fields]+AND+(%22mandible%22[MeSH+Terms]+OR+%22mandible%22[All+Fields]+OR+%22mandibular%22[All+Fields])+AND+(%22extremities%22[MeSH+Terms]+OR+%22extremities%22[All+Fields]+OR+%22limb%22[All+Fields])+AND+hypogenesis[All+Fields] Q87.5 2749 group of phenomes 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Oro-akrales Syndrom Oroacral syndrome Sindrome oroacrale Syndrome oro-acral Oro-mandibular-limb hypogenesis syndrome Sindrome oromandibolare-ipogenesia degli arti Syndrom mit oro-mandibulärer und Gliedmaßen-Hypogenesis Syndrome oro-mandibulaire-réduction des membres Síndrome de hipogenesia oromandibular y de extremidades Síndrome oro-acral hrdo:pat_id_3066 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 243310 614583 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Iris+coloboma+(ptosis%5Btw%5D+OR+blepharoptosis%5Bmh%5D)+mental+retardation+OR+baraitser+winter+syndrome%5Btw%5D Q04.3 Q15.8 2995 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Baraitser-Winter-Syndrom Cerebrofrontofacial syndrome type 3 Fryns-Aftimos, síndrome de Iris coloboma-ptosis-intellectual deficit syndrome Ptose - coloboma - atraso mental Sindrome di Baraitser-Winter Syndrome cérébro-fronto-facial type 3 Syndrome de ptosis-colobome de l'iris-déficit intellectuel Síndrome cerebrofrontofacial tipo 3 Síndrome coloboma del iris - ptosis - déficit intelectual Síndrome de Fryns-Aftimos Síndrome de Fryns-Aftimos Baraitser-Winter syndrome Coloboma dell'iride - ptosi - deficit cognitivo Iriskolobom mit Ptosis - Intelligenzminderung Syndrome de Baraitser-Winter Síndrome de Baraitser-Winter Síndrome de Baraitser-Winter hrdo:pat_id_3068 3013 malformation syndrome Marashi-Gorlin syndrome Marashi-Gorlin, síndrome de Marashi-Gorlin-Syndrom Sindrome di Marashi-Gorlin Syndrome de Marashi-Gorlin Síndrome de Marashi-Gorlin Síndrome de Marashi-Gorlin Radiculomegalia de caninos - cataratas congénitas Radiculomegalia dei canini - cataratta congenita Radiculomegalia dos dentes caninos - cataratas congénitas Radiculomegaly of canine teeth- congenital cataract Radiculomégalie des canines - cataracte congénitale Radikulomegalie der Eckzähne - kongenitale Katarakt hrdo:pat_id_3069 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 3200 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Arthrogrypose - dysplasie ectodermique - autres anomalies Arthrogrypose mit ektodermaler Dysplasie und anderen Anomalien Arthrogryposis - ectodermal dysplasia - other anomalies Artrogripose - displasia ectodérmica - outras anomalias Artrogriposi - displasia ectodermica - altre anomalie Artrogriposis - displasia ectodérmica - otras anomalías Sindrome di Stoll-Alembik-Finck Stoll-Alembik-Finck syndrome Stoll-Alembik-Finck-Syndrom Syndrome de Stoll-Alembik-Finck Síndrome de Stoll-Alembik-Finck Síndrome de Stoll-Alembik-Finck hrdo:pat_id_3071 neant Q73.8 1570 malformation syndrome De Smet-Fabry-Fryns syndrome De Smet-Fabry-Fryns-Syndrom Sindrome di De Smet-Fabry-Fryns Syndrome de De Smet-Fabry-Fryns Síndrome de De Smet-Fabry-Fryns Simbraquidactilia de manos y pies Sinbrachidattilia delle mani e dei piedi Symbrachydactylie des pieds et des mains Symbrachydactyly of hands and feet Symbrachydaktylie der Hände und Füße Síndrome de De Smet-Fabry-Fryns hrdo:pat_id_3072 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 608578 neant 2649 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Nanimo de Richieri-Costa-Guion-Almeida Nanisme de Richieri Costa-Guion Almeida Nanismo di Richieri Costa-Guion Almeida Richiera-Costa-Guion-Almeida Kleinwuchs Richieri Costa-Guion Almeida syndrome Baixa estatura - atraso mental - anomalias oculares - fenda lábio-palatina Enanismo - déficit intelectual - anomalías oculares - fisura labiopalatina Kleinwuchs - geistige Retardierung - Augenanomalien - Lippen-Gaumen-Spalte Nanisme - déficit intellectuel - anomalies oculaires - fente labiopalatine Nanismo - ritardo mentale - anomalie oculari - schisi labiopalatina Short stature - intellectual deficit - eye anomalies - cleft lip/palate hrdo:pat_id_3073 1258 malformation syndrome Rodini-Richieri Costa syndrome Rodini-Richieri-Costa, síndrome de Rodini-Richieri-Costa-Syndrom Sindrome di Rodini-Richieri Costa Syndrome de Rodini-Richieri Costa Síndrome de Rodini-Richieri-Costa Síndrome de Rodini-Richieri-Costa Blefaroptose - fenda palatina - ectrodactilia - anomalias dentárias Blefaroptosi - palatoschisi - ectrodattilia - anomalie dentali Blefaroptosis - fisura palatina - ectrodactilia - anomalías dentales Blepharoptose, Gaumenspalte, Ektrodaktylie, Anomalien der Zähne Blepharoptosis - cleft palate - ectrodactyly - dental anomalies Blépharoptosis - fente palatine - ectrodactylie - anomalies dentaires hrdo:pat_id_3074 2161 41049003 C0266719 malformation syndrome Holoacardius amorphus Holoacardius amorphus Holoacardius amorphus Holoacardius amorphus Holocardius amorphus Olocardio amorfo hrdo:pat_id_3075 neant Q43.4 1759 malformation syndrome Duplicación entérica toraco abdominal Duplication entérique thoraco-abdominale Duplicazione enterica toraco-addominale Duplicação entérica toraco-abdominal Thoraco-abdominal enteric duplication Thorako-abdomino-enterale Duplikation hrdo:pat_id_3079 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter Q89.2 489 39462005 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Kyste du conduit thyréoglosse Thyroglossal tract cyst Zyste des Thyreoglossus-Traktes Cisti del tratto tireoglosso Kyste du tractus thyréoglosse Quiste de tracto tirogloso Quisto do tireoglosso Thyreoglossus-Zyste Thyroglossal duct cyst hrdo:pat_id_3080 neant Q87.8 1277 malformation syndrome Sindrome di Stratton-Garcia-Young Stratton-Garcia-Young syndrome Stratton-Garcia-Young, síndrome de Stratton-Garcia-Young-Syndrom Syndrome de Stratton-Garcia-Young Síndrome de Stratton-Garcia-Young Brachidattilia mesomalica - ritardo mentale - malformazioni cardiache Brachydactylie - mésomélie - déficit intellectuel - malformations cardiaques Brachydactyly - mesomelia - intellectual deficit - heart defects Brachydaktylie, mesomele, mit mentaler Retardierung und Herzfehlern Braquidactilia - mesomelia - atraso mental - cardiopatia Braquidactilia - mesomelia - déficit intelectual - malformaciones cardíacas hrdo:pat_id_3081 2547 malformation syndrome Sindrome di Thomas-Jewtt-Raines Syndrome de Thomas-Jewtt-Raines Síndrome de Thomas-Jewett-Raines Síndrome de Thomas-Jewtt-Raines Thomas-Jewett-Raines syndrome Thomas-Jewett-Raines, síndrome de Microftalmia - microtia - acinesia - ritardo mentale Microftalmia - microtia - acinesia fetal Microftalmia - microtia - aquinesia fetal Microphtalmie - microtie - akinésie foetale Microphthalmia - microtia - fetal akinesia Mikrophthalmie - Mikrotie - fetale Akinesie hrdo:pat_id_3086 neant Q87.8 1778 malformation syndrome Seaver-Cassidy syndrome Seaver-Cassidy, síndrome de Sindrome di Seaver-Cassidy Syndrome de Seaver-Cassidy Síndrome de Seaver-Cassidy Síndrome de Seaver-Cassidy Dismorfia facial - escroto en alforja - hiperlaxitud ligamentaria Dismorfismi facciali - scroto a scialle - iperlassità legamentosa Dysmorphie faciale - scrotum en châle - hyperlaxité ligamentaire Facial dysmorphism - shawl scrotum - joint laxity Gesichtsdysmorphien - Schalskrotum - Gelenkschlaffheit Síndrome dismorfia facial - escroto em xaile - laxidez articular hrdo:pat_id_3087 neant Q87.8 3074 malformation syndrome Sindrome di Stoll-Geraudel-Chauvin Stoll-Geraudel-Chauvin, síndrome de Stoll-Geraudel-Chauvin-Syndrom Stoll-Géraudel-Chauvin syndrome Syndrome de Stoll-Geraudel-Chauvin Síndrome de Stoll-Geraudel-Chauvin Atraso mental - baixa estatura - hipertelorismo Déficit intelectual - talla baja - hipertelorismo Déficit intellectuel lié à l'X - petite taille - hypertélorisme Geistige Retardierung, X-chromosomale - Kleinwuchs - Hypertelorismus Intellectual deficit - short stature - hypertelorism Ritardo mentale - bassa statura - ipertelorismo hrdo:pat_id_3088 C537225 1773 C2931446 malformation syndrome Disgenesia Sacrococcígea Disgenesia sacro-coccigea Disgenesia sacrococcígea, associação Dysgenesie, sakrokokzygeale Dysgénésie sacrococcygienne Sacrococcygeal dysgenesis association hrdo:pat_id_3091 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance C537335 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Siegler+Brewer+Carey 3167 C2931473 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Siegler-Brewer-Carey syndrome Siegler-Brewer-Carey-Syndrom Sindrome di Siegler-Brewer-Carey Syndrome de Siegler-Brewer-Carey Síndrome de Siegler-Brewer-Carey Síndrome de Siegler-Brewer-Carey hrdo:pat_id_3096 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 612726 neant 1415 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hardikar syndrome Syndrome de Hardikar Cholestase - Pigment-Retinopathie - Gaumenspalte Cholestase - rétinopathie pigmentaire - fente palatine Cholestasis - pigmentary retinopathy - cleft palate Colestase - retinopatia pigmentar - fenda do palato Colestasi - retinopatia pigmentosa - schisi palatina Colestasis - retinopatía pigmentaria - fisura palatina hrdo:pat_id_3101 C538119 neant Q43.1 2151 C2751683 malformation syndrome Doença de Hirschsprung - ganglioneuroblastoma Enfermedad de Hirschsprung - ganglioneuroma Ganglioneurome de Hirschsprung Hirschsprung disease - ganglioneuroblastoma Hirschsprung-Krankheit - Ganglioneuroblastom Malattia di Hirschsprung - ganglioneuroma hrdo:pat_id_3103 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 2653 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Nanismo osteocondrodisplásico - sordera - retinosis pigmentaria Osteochondrodysplatic dwarfism - deafness - retinitis pigmentosa Enanismo osteocondrodisplásico - sordera - retinosis pigmentaria Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa Nanisme ostéochondrodysplasique - surdité - rétinopathie pigmentaire Nanismo - surdez - retinite pigmentosa Nanismo osteocondrodisplasico - sordità - retinite pigmentosa Osteochondrodysplatic nanism - deafness - retinitis pigmentosa hrdo:pat_id_3104 1492 malformation syndrome Balkenmangel mit Verdopplung des Harnsammelsystems Bem-Ari-Shuper-Mimouni, síndrome de Ben Ari-Shuper-Mimouni syndrome Ben Ari-Shuper-Mimouni-Syndrom Sindrome di Ben Ari-Shuper-Mimouni Syndrome de Ben Ari-Shuper-Mimouni Síndrome de Bem-Ari-Shuper-Mimouni Síndrome de Ben Ari-Shuper-Mimouni Agenesia cuerpo calloso - duplicación ureteral - trigonocefalia Agenesia del corpo calloso - bifidità uretrale - trigonocefalia Agenesia do corpo caloso - duplicação do sistema coletor urinário Agénésie du corps calleux - uretère bifide - trigonocéphalie Corpus callosum agenesis - double urinary collecting system Corpus callosum-Agenesie - Ureter bifidus - Trigonozephalus hrdo:pat_id_3106 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance C537544 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=microcephaly+epilepsy+mental+retardation+heart+micropenis Q87.8 2519 C2931529 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Microcefalia - convulsões - atraso mental - cardiopatia Microcefalia - epilepsia - déficit intelectual - cardiopatía Microcefalia - epilessia - ritardo mentale - cardiopatia Microcephaly - seizures - intellectual deficit - heart disease Microcéphalie - épilepsie - déficit intellectuel - cardiopathie Mikrozephalie - Krämpfe - geistige Retardierung - Herzfehler hrdo:pat_id_311 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance D016115 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22albinism%2C+oculocutaneous%22%5BMH%5D+OR+%28Oculocutaneous+albinism%5BTw%5D+NOT+medline%5Bsb%5D%29 E70.3 55 63844009 C0078918 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 AOC AOC OCA OCA OCA Albinisme oculo-cutané Albinismo oculo-cutáneo Albinismo oculo-cutâneo Albinismo oculocutaneo Albinismus, okulokutaner Oculocutaneous albinism hrdo:pat_id_3112 2458 malformation syndrome Opitz-Reynolds-FitzGerald syndrome Opitz-Reynolds-Fitzgerald, síndrome de Opitz-Reynolds-Fitzgerald-Syndrom Sindrome di Opitz-Reynolds-Fitzgerald Syndrome d'Opitz-Reynolds-Fitzgerald Síndrome de Opitz-Reynolds-Fitzgerald Síndrome de Opitz-Reynolds-Fitzgerald Disostose mandibulo-facial - surdez - polidactilia pós-axial Disostosi mandibolo-facciale - sordità - polidattilia postassiale Disostosis mandibulo-facial - sordera - polidactilia postaxial Dysostose mandibulo-faciale - surdité - polydactylie postaxiale Dysystose, mandibulo-faziale - Schwerhörigkeit - postaxiale Polydaktylie Mandibulofacial dysostosis - deafness - postaxial polydactyly hrdo:pat_id_3114 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=voiding+dysfunction+polycystic+ovary+urethral+sphincter+progesterone 2795 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Fowler-Christmas-Chapele, síndrome de Fowler-Christmas-Chapple syndrome Fowler-Christmas-Chapple-Syndrom Sindrome di Fowler-Christmas-Chapple Syndrome de Fowler-Christmas-Chapple Síndrome de Fowler-Christmas-Chapele Síndrome de Fowler-Christmas-Chapple Ovaio policistico - disfunzione dello sfintere uretrale Ovarios poliquísticos - disfunción del esfínter uretral Ovários poliquísticos - disfunção do esfíncter uretral Polycystic ovaries - urethral sphincter dysfunction Polykystose ovarienne - dysfonctionnement du sphincter uréthral Polyzystische Ovarien - Dysfunktion des Urethra-Sphinkters hrdo:pat_id_3115 2033 disease Fibrose musculaire multifocale - vaisseaux obstrués Fibrose muscular multifocal - oclusão dos vasos Fibrosi muscolare multifocale - ostruzione dei vasi Fibrosis muscular multifocal - vasos obstruidos Multifocal muscular fibrosis - obstructed vessels Muskelfibrose, multifokale, mit Gefässverschluss hrdo:pat_id_3116 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 2125 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Emangiomi sacrali - anomalie congenite multiple Hemangiomas sacros - anomalías congénitas múltiples Hemangiomas sagrados - anomalias congénitas múltiplas Hémangiomes sacrés - anomalies congénitales multiples Sacral hemangiomas - multiple congenital abnormalities Steiß-Hämangiome - multiple kongenitale Fehlbildungen hrdo:pat_id_3117 1434 disease Chorioideremie - Hypopituitarismus Choroideremia - hypopituitarism Choroïdérémie - hypopituitarisme Coroideremia - hipopituitarismo Coroideremia - ipopituitarismo Coroideremia hipopituitarismo hrdo:pat_id_3118 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=nephronophthisis+familial+adult+spastic+quadriparesis 2666 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Adult familial nephronophtisis - spastic quadriparesia Nefronoftisi familiare dell'adulto - tetraparesi spastica Nefronoptise familiar do adulto - tetraparésia espástica Nefronoptisis familiar del adulto - quadriparesia espástica Nephronophthise, adulte familiäre - spastische Tetraparese Néphronophtise familiale de l'adulte - quadriparésie spastique hrdo:pat_id_312 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 209850 300425 300495 300496 300830 300847 300872 606053 607373 608049 608636 609378 610676 610836 610838 610908 611015 611016 611913 612100 613410 613436 615032 615091 D001321 10003805 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22autistic+disorder/genetics%22%5BMesh+Terms%5D F84 106 408856003 C0004352 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel malformation syndrome >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Autism Autisme Autismo Autismo Autismo Autismus hrdo:pat_id_3128 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 226810 1459 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CEC CEC CEC CEC CEC Celiac disease, epilepsy and cerebral calcification syndrome Celiachia - epilessia - calcificazioni cerebrali Doença celíaca - epilepsia - calcificações occipitais Syndrome associant maladie coeliaque, calcifications cérébrales et épilepsie Síndrome de enfermedad celíaca, epilepsia y calcificación cerebral Zöliakie - Epilepsie - Occipitalis-Kalzifikation hrdo:pat_id_3129 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=ectopia+lentis+chorioretinal+myopia Q15.8 1884 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Noble-Bass-Sherman syndrome Noble-Bass-Sherman, síndrome de Noble-Bass-Sherman-Syndrom Sindrome di Noble-Bass-Sherman Syndrome de Noble-Bass-Sherman Síndrome de Noble-Bass-Sherman Síndrome de Noble-Bass-Sherman Ectopia de cristalino - distrofia corioretinana - miopía Ectopia del cristallino - distrofia corioretinca - miopia Ectopia do cristalino - distrofia corio-retiniana - miopia Ectopia lentis - chorioretinal dystrophy - myopia Ectopia lentis - chorioretinale Dystrophie - Myopie Ectopie du cristallin - dystrophie chorio-rétinienne - myopie hrdo:pat_id_313 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 259450 609220 10063718 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=bruck+synd*%5Btw%5D+OR+osteogenesis+imperfecta%5Bti%5D+%28joint*%5BTI%5D+contracture*%5Bti%5D+OR+contracture%5Bmh%5D%29 M21.8 2771 254113006 C0432253 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Bruck, síndrome de Osteogenesi imperfetta - contratture congenite delle articolazioni Osteogenesis imperfecta - congenital joint contractures Osteogenesis imperfecta - kongenitale Gelenkskontrakturen Ostéogenèse imparfaite - contractures articulaires Síndrome de Bruck Síndrome de Bruck Bruck syndrome Bruck-Syndrom Fragilidad ósea contracturas articulares Osteogénse imperfeita com artrogripose congénita Sindrome di Bruck Syndrome de Bruck hrdo:pat_id_3130 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance C536938 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=umbilical+cord+ulcer+intestinal+atresia 3405 C2931371 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Nabelschnur-Ulzera - Darmatresie Ulceración del cordón umbilical - atresia intestinal Ulcerazione del cordone ombelicale - atresia intestinale Ulcération du cordon ombilical - atrésie intestinale Umbilical cord ulceration - intestinal atresia Úlcera do cordão umbilical - atresia intestinal hrdo:pat_id_3131 1167 malformation syndrome Asimetría facial epilepsia temporal Asimmetria facciale - epilessia temporale Assimetria facial - epilepsia temporal Asymétrie faciale - épilepsie temporale Facial asymmetry - temporal seizures Gesichtsasymmetrie - temporäre Anfälle hrdo:pat_id_3132 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 607596 614678 C548069 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Pontocerebellar+hypoplasia%5Btw%5D+OR+Olivopontocerebellar+Atrophies)+((Muscular+Atrophy,+Spinal)+OR+%22type+i%22+OR+%22type+1%22) Q04.3 2254 C1843504 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome di Young-McKeever-Squier Síndrome de Young-Mc Keever-Squier Hipoplasia pontocerebelosa tipo 1 Hipoplasia pontocerebelosa tipo 1 Hypoplasie pontocérébelleuse type 1 Ipoplasia pontocerebellare, tipo 1 Pontocerebellar hypoplasia type 1 Pontozerebelläre Hypoplasie Typ 1 hrdo:pat_id_3134 Variabel Variabile Variable Variable Variable Variable Variável D016603 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Eosinophilia+Myalgia+Syndrome M35.8 2582 403735006 C1275050 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Eosinophilie-Myalgie-Syndrom durch Tryptophan-Zufuhr Mialgia - eosinofilia, associadas ao triptofano Mialgia eosinofilia ligadas a triptófano Myalgia-eosinophilia syndrome associated with tryptophan Myalgie - éosinophilie liée au tryptophane Myalgie, eosinophile, Tryptophan-assoziierte Sindrome mialgia-eosinofilia, legata al triptofano hrdo:pat_id_3135 3360 malformation syndrome Katsantoni-Papadakou Lagoyanni syndrome Katsantoni-Papadakou-Lagoyanni, síndrome de Katsantoni-Papadakou-Lagoyanni-Syndrom Sindrome di Katsantoni-Papadakou-Lagoyanni Syndrome de Katsantoni-Papadakou-Lagoyanni Síndrome de Katsantoni-Papadakou-Lagoyanni Sindrome trico-dermica - ritardo mentale Syndrome trichodermal - déficit intellectuel Síndrome tricodérmico - atraso mental Síndrome tricodérmico - déficit intelectual Trichodermal syndrome - intellectual deficit Trichodermales Syndrom - geistige Retardierung hrdo:pat_id_3136 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance Q78.8 1423 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Maroteaux-Stanescu-Cousin syndrome Maroteaux-Stanescu-Cousin, síndrome de Maroteaux-Stanescu-Cousin-Syndrom Sindrome di Maroteaux-Stanescu-Cousin Syndrome de Maroteaux-Stanescu-Cousin Síndrome de Maroteaux-Stanescu-Cousin Síndrome de Maroteaux-Stanescu-Cousin Chondrodysplasie létale autosomique récessive Chondrodysplasie, letale, rezessive Condrodisplasia letal recessiva Condrodisplasia letale recessiva Condrodisplasia recesiva letal Lethal recessive chondrodysplasia hrdo:pat_id_3137 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 2183 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sengers-Hamel-Otten syndrome Sengers-Hamel-Otten, síndrome de Sengers-Hamel-Otten-Syndrom Sindrome di Sengers-Hamel-Otten Syndrome de Sengers-Hamel-Otten Síndrome de Sengers-Hamel-Otten Síndrome de Sengers-Hamel-Otten Hidrocefalia - obesidad - hipogonadismo Hidrocefalia - obesidade - hipogonadismo Hydrocephalus - obesity - hypogonadism Hydrocéphalie - obésité - hypogonadisme Hydrozephalus - Adipositas - Hypogonadismus Idrocefalo - obesità - ipogonadismo hrdo:pat_id_3140 Q87.8 1789 malformation syndrome Sindrome di Van Biervliet-Hendrickx-Van Ertbruggen Syndrome de Van Biervliet-Hendrickx-van Ertbruggen Síndrome de Van Biervliet-Hendrickx-Van Ertbruggen Síndrome de Van Biervliet-Hendrickx-van Ertbruggen Van Biervliet-Hendrickx-van Ertbruggen syndrome Van Biervliet-Hendrickx-van Ertbruggen, síndrome de Van Biervliet-Hendrickx-van Ertbruggen-Syndrom Craniofacial dysostosis - arthrogryposis - progeroid appearance Disostose cranio-facial - artrogripose - hábito progeróide Disostosi cranio-facciale - artrogriposi - aspetto progeroide Disostosis craneofacial - artrogriposis - aspecto progeroide Dysostose cranio-faciale - arthrogrypose - aspect progéroïde Kraniofaziale Dysostose - Arthrogrypose mit Progerie-ähnlichem Aspekt hrdo:pat_id_3143 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(muscle+OR+muscular)+pseudohypertrophy+hypothyroidism+OR+(Kocher-Debre-Semelaigne%5Btw%5D) E03.1 2349 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hoffman's syndrome Hoffman-Syndrom Kocher-Debre-Semelaigne syndrome Kocher-Debre-Semelaigne-Syndrom Sindrome di Hoffman Sindrome di Kocher-Debre-Semelaigne Syndrome de Hoffman Syndrome de Kocher-Debre-Semelaigne Síndrome de Hoffman Síndrome de Kocher-Debre-Semelaigne Muscular pseudohypertrophy - hypothyroidism Muskelpseudohypertrophie - Hypothyreose Pseudohipertrofia muscular - hipotiroidismo Pseudohypertrophie musculaire - hypothyroïdie Pseudoipertrofia muscolare - ipotiroidismo Síndrome de Kocher-Debre-Semelaigne hrdo:pat_id_3144 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300064 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=mental+retardation+craniofacial+dysmorphism+plagiocephaly Q87.0 2898 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hyde Forster-McCarthy-Berry syndrome Hyde-Forster-McCarthy-Berry, síndrome de Hyde-Forster-McCarthy-Berry-Syndrom Sindrome di Hyde Forster-McCarthy-Berry Syndrome de Hyde Forster-McCarthy-Berry Síndrome de Hyde-Forster-McCarthy-Berry Déficit intellectuel lié à l'X - plagiocéphalie Geistige Retardierung, X-chromosomale - Plagiozephalie Intellectual deficit, X-linked - plagiocephaly Plagiocefalia - atraso mental ligado ao X Plagiocefalia - déficit intelectual ligado al X Plagiocefalia - ritardo mentale legato all'X hrdo:pat_id_3145 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Colobomatous+microphthalmos+microphthalmia+hearing+loss+mental+retardation 1474 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hittner-Hirsch-Kreh syndrome Hittner-Hirsch-Kreh, síndrome de Hittner-Hirsch-Kreh-Syndrom Sindrome di Hittner-Hirsch-Kreh Syndrome de Hittner-Hirsch-Kreh Síndrome de Hittner-Hirsch-Kreh Síndrome de Hittner-Hirsch-Kreh Coloboma - microftalmia - cardiopatia - sordità Coloboma - microftalmia - cardiopatía - sordera Colobomatous - microphthalmia - heart disease - hearing loss Colobome - microphtalmie - cardiopathie - surdité Kolobomatöse Mikrophthalmie - Kardiopathie - Schwerhörigkeit Microftalmia colobomatosa - cardiopatia - surdez hrdo:pat_id_3148 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(vertebral+body+fusion%5Btw%5D+OR+vertebral+fusion%5Btw%5D)+progressive%5Bti%5D Q87.8 2062 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Bloco vertebral - macrossomia Copenhagen syndrome Copenhagen-Syndrom Fryns-Fabry-Remans, síndrome de Sindrome di Copenhagen Syndrome de Copenhague Síndrome de Copenhagen Síndrome de Fryns-Fabry-Remans Fusion des vertèbres progressive non infectieuse Fusione vertebrale progressiva non infettiva Fusión vertebral anterior progresiva no infecciosa Fusão dos corpos vertebrais - macrossomia Progressive non-infectious anterior vertebral fusion Wirbelfusion, progrediente, nicht-infektiöse syndromale Form hrdo:pat_id_3149 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q87.0 2015 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Mathieu-De Broca-Bony syndrome Mathieu-de Broca-Bony, síndrome de Mathieu-de-Broca-Bony-Syndrom Sindrome di Mathieu-De Broca-Bony Syndrome de Mathieu-De Broca-Bony Síndrome de Mathieu-de Broca-Bony Síndrome de Mathieu-de Broca-Bony Cleft palate - short stature - vertebral anomalies Fenda do palato - baixa estatura - anomalias vertebrais Fente palatine - petite taille - vertèbres anormales Fisura palatina - talla baja - anomalías de las vértebras Gaumenspalte - Kleinwuchs - Fehlbildungen der Wirbel Palatoschisi - bassa statura - anomalie delle vertebre hrdo:pat_id_315 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Mitochondrial+Myopathies+OR+cardiomyopathies)+(hearing+loss+OR+deafness)+(RNA,+Transfer,+Lys%5Bmh%5D+OR+Maternally+inherited%5Btw%5D)+NOT+diabetes I42.8 1349 malformation syndrome Cardiomiopatia - perdita dell'udito, da mutazione del gene tRNA-LYS Cardiomyopathie - surdité dues à des mutations du tRNA-LYS Kardiomyopathie - Hörverlust, durch tRNA-Lysin-Genmutation Maternally-inherited cardiomyopathy and deafness Miocardiopatía - sordera, por mutación del ARNt-lys tRNA-LYS-related cardiomyopathy - hearing loss Cardiomiopatia - sordità, a trasmissione materna Cardiomyopathie-surdité de transmission maternelle Kardiomyopathie - Hörverlust, maternal vererbt Maternally-inherited cardiomyopathy and hearing loss Miocardiopatia - surdez por mutação no gene do tRNA da lys Miocardiopatía - sordera, de herencia materna hrdo:pat_id_3150 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Volcke+soekarman+syndrome+Macrocephaly 2427 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome di Volcke-Soekarman Syndrome de Volcke-Soekarman Síndrome de Volcke-Soekarman Volcke-Soekarman syndrome Volcke-Soekarman, síndrome de Volcke-Soekarman-Syndrom Macrocefalia - baixa estatura - paraplegia Macrocefalia - bassa statura - paraplegia Macrocefalia - talla baja - paraplejia Macrocephaly - short stature - paraplegia Macrocéphalie - petite taille - paraplégie Makrozephalie - Kleinwuchs - Paraplegie hrdo:pat_id_3152 2058 malformation syndrome Fryns-Smeets-Thiry syndrome Fryns-Smeets-Thiry-Syndrom Sindrome di Fryns-Smeets-Thiry Syndrome de Fryns-Smeets-Thiry Síndrome de Fryns-Smeets-Thiry Síndrome de Fryns-Smeets-Thiry hrdo:pat_id_3154 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 209010 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=atherosclerosis+epilepsy+deafness 1192 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Feigenbaum-Bergeron-Richardson syndrome Feigenbaum-Bergeron-Richardson, síndrome de Sindrome di Feigenbaum-Bergeron-Richardson Syndrome de Feigenbaum-Bergeron-Richardson Síndrome de Feigenbaum-Bergeron-Richardson Síndrome de Feigenbaum-Bergeron-Richardson Ateroesclerosis - sordera - diabetes - epilepsia - nefropatía Aterosclerose - epilepsia - surdez Aterosclerosi - sordità - diabete - epilessia - nefropatia Atherosclerosis- deafness - diabetes - epilepsy - nephropathy Atherosklerose - Schwerhörigkeit - Diabetes - Epilepsie - Nephropathie Athérosclérose - surdité - épilepsie - diabète - néphropathie hrdo:pat_id_3155 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 156810 C537554 neant Q87.8 2538 C1834929 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Microgastria - anomalie degli arti Microgastria - defeitos de redução dos membros Microgastria - limb reduction defect Microgastria anomalía de miembros Microgastrie - anomalie des membres Mikrogastrie - Extremitätenverkürzung hrdo:pat_id_3156 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 600335 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Succinic+acidemia+congenital+acidosis+lactic 936 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Succinin-Azidämie Acidemia succinica Acidemia succínica Acidemia succínica Acidémie succinique Bernsteinsäure-Krankheit Succinic acidemia hrdo:pat_id_3157 3207 malformation syndrome Caratolo-Cilio-Pessagno, síndrome de Caratolo-Cilio-Pessagno-Syndrom Curatolo-Cilio-Pessagno syndrome Sindrome di Curatolo-Cilio-Pessagno Syndrome de Curatolo-Cilio-Pessagno Síndrome de Caratolo-Cilio-Pessagno Síndrome de Curatolo-Cilio-Pessagno Hipoplasia da substância branca - agenesia do corpo caloso - atraso mental Hipoplasia de la sustancia blanca - agenesia del cuerpo calloso - déficit intelectual Hypoplasie de la substance blanche - agénésie du corps calleux - déficit intellectuel Hypoplasie der weißen Gehirnsubstanz - Corpus-callosum-Agenesie - geistige Retardierung Ipoplasia della sostanza bianca - agenesia del corpo calloso - ritardo mentale White matter hypoplasia - corpus callosum agenesis - intellectual deficit hrdo:pat_id_3158 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 2244 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Kaplowitz-Bodurtha syndrome Kaplowitz-Bodurtha, síndrome de Kaplowitz-Bodurtha-Syndrom Sindrome di Kaplowitz-Bodurtha Syndrome de Kaplowitz-Bodurtha Síndrome de Kaplowitz-Bodurtha Síndrome de Kaplowitz-Bodurtha Hipopituitarismo - microftalmia Hipopituitarismo - microftalmia Hypopituitarism - microphthalmia Hypopituitarisme - microphtalmie Hypopituitarismus - Mikrophthalmie Ipopituitarismo - microftalmia hrdo:pat_id_3161 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Die+smulders+vles+fryns+arachnodactyly Q87.8 1130 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Die Smulders-Vles-Fryns, síndrome de Die-Smulders-Vles-Fryns-Syndrom Sindrome di Die Smulders-Vles-Fryns Syndrome de de Die Smulders-Vles-Fryns Síndrome de Die Smulders-Vles-Fryns de Die Smulders-Vles-Fryns syndrome Arachnodactylie - déficit intellectuel - dysmorphie Arachnodactyly - intellectual deficit - dysmorphism Arachnodaktylie - geistige Retardierung - Dysmorphien Aracnodactilia - atraso mental - dismorfias Aracnodactilia - déficit intelectual - dismorfia Aracnodattilia - ritardo mentale - dismorfismi hrdo:pat_id_3163 2626 malformation syndrome Blethen-Wenick-Hawkins syndrome Blethen-Wenick-Hawkins, síndrome de Blethen-Wenick-Hawkins-Syndrom Sindrome di Blethen-Wenick-Hawkins Syndrome de Blethen-Wenick-Hawkins Síndrome de Blethen-Wenick-Hawkins Síndrome de Blethen-Wenick-Hawkins Enanismo hipofisario - anomalías esqueléticas Hipopituitarismo - nanismo - anomalias ósseas Hypopituitarism - short stature - skeletal anomalies Hypopituitarismus - Kleinwuchs - Skelettanomalien Nanisme hypophysaire - anomalies squelettiques Nanismo ipofisario - anomalie scheletriche hrdo:pat_id_3164 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 300672 312750 613454 neant 3095 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Atypical RTT Atypisches RTT Epileptische Enzephalopathie, frühinfantile Leifer-Lai-Buyse, síndrome de RTT atipica RTT atypique RTT atípico Rett syndrome variant Rett-Syndrom, Variante Rett-ähnliches Syndrom Sindrome Rett-simile Syndrome Rett-like Síndrome de Leifer-Lai-Buyse Variant du syndrome de Rett Variante del síndrome de Rett Variante della sindrome di Rett Atypical Rett syndrome Rett-Syndrom, atypisches Sindrome di Rett, forma atipica Syndrome de Rett atypique Síndrome Rett-like Síndrome de Rett atípico hrdo:pat_id_3165 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 165590 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=fibula*%5Bti%5D+(Orofaciodigital+Syndromes+OR+Oral+facial+digital%5Btw%5D) Q87.0 2756 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Figuera syndrome Figuera-Syndrom OFD10 OFD10 OFD10 OFD10 Oro-facio-digital com aplasia do perónio Oro-fazio-digitales Syndrom mit Fibula-Aplasie Orofaciodigital syndrome type 10 Orofaciodigital syndrome with fibular aplasia Sindrome di Figuera Sindrome oro-facio-digitale con aplasia del perone Syndrome de Figuera Syndrome oro-facio-digital - aplasie fibulaire Syndrome orofaciodigital de type 10 Síndrome oro-facio-digital com aplasia do perónio Oral-facial-digital syndrome type 10 Oro-fazio-digitales Syndrom Typ 10 Sindrome oro-facio-digitale, tipo 10 Syndrome oro-facio-digital de type 10 Síndrome oro-facio-digital tipo 10 Síndrome orofaciodigital tipo 10 hrdo:pat_id_3166 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 270150 D012859 10040767 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22sjogren%27s+syndrome%22%5BMeSH+Terms%5D+OR+%28%28Sjogren%27s+Syndrome%5BTi%5D+OR+Sjogren+Syndrome%5BTi%5D%29+NOT+medline%5Bsb%5D%29 M35.0 378 83901003 C1527336 disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Sicca syndrome Sicca-Syndrom Sindrome di Sicca Sindrome di Sjögren-Gougerot Sjögren-Gougerot syndrome Sjögren-Gougerot-Syndrom Syndrome de Sjögren Syndrome sicca Síndrome de Sicca Síndrome de Sjögren-Gougerot Sindrome di Sjögren Sjögren's syndrome Sjögren-Syndrom Syndrome de Gougerot-Sjögren Síndrome de Sjögren Síndrome de Sjögren hrdo:pat_id_3167 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=%28kallmann+syndrome[MH]+OR+Kallmann%29+AND+%28cardiopathy+OR+heart%29) E23.0 Q24.9 2326 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Kallmann syndrome - heart disease Kallmann-Syndrom - Kardiopathie Sindrome di Kallmann - cardiopatia Syndrome de Kallmann - cardiopathie Síndrome de Kallmann - cardiopatia Síndrome de Kallmann - cardiopatía hrdo:pat_id_3169 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 604757 Q75.8 1541 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Craneosinostosis, tipo Warman Craniosinostosi, tipo Warman Craniosynostose type Warman Craniosynostosis, Warman type Kraniosynostose Typ Warman Sindrome di Warman-Mulliken-Hayward Syndrome de Warman-Mulliken-Hayward Síndrome de Warma-Mulliken-Hayward Síndrome de Warman-Muliken-Hayward Warma-Mulliken-Hayward, síndrome de Warman-Mulliken-Hayward syndrome Warman-Mulliken-Hayward-Syndrom Craneosinostosis, tipo Boston Craniosinostosi, tipo Boston Craniossinostose tipo Warman Craniosynostose type Boston Craniosynostosis, Boston type Kraniosynostose Typ Boston hrdo:pat_id_3171 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 613342 C537086 neant Q77.7 2619 C2931420 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown MJD Maladie articulaire type Mseleni Mseleni joint disease Mselenische Gelenkkrankheit (MJD) Brachydactylous dwarfism, Mseleni type Enanismo braquidactilia tipo Mseleni Kleinwuchs - Brachydaktylie, Typ Mseleni Nanisme - brachydactylie type Mseleni Nanismo com braquidactilia tipo Mseleni Nanismo-brachidattilia, tipo Mseleni hrdo:pat_id_3173 612289 neant 2963 malformation syndrome Petty-Laxova-Wiedemann syndrome Petty-Laxova-Wiedemann, síndrome de Petty-Laxova-Wiedemann-Syndrom Sindrome di Petty-Laxova-Wiedemann Syndrome de Petty-Laxova-Wiedemann Síndrome de Petty-Laxova-Wiedemann Síndrome de Petty-Laxova-Wiedemann Progerie-ähnliches Syndrom Typ Petty Progeroid syndrome, Petty type Sindrome progeroide, tipo Petty Syndrome progéroïde type Petty Síndrome progeroide tipo Petty Síndrome progeróide tipo Petty hrdo:pat_id_3174 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 600145 neant Q87.8 1768 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Rudd-Klimek syndrome Rudd-Klimek, síndrome de Rudd-Klimek-Syndrom Sindrome di Rudd-Klimek Syndrome de Rudd-Klimek Síndrome de Rudd-Klimek Síndrome de Rudd-Klimek Disgenesia caudal familiar Disgenesia caudal familiar Disgenesia caudale familiare Dysgenesie, familiäre kaudale Dysgénésie caudale familiale Familial caudal dysgenesis hrdo:pat_id_3175 2204 malformation syndrome Kozlowski-Tsuruta syndrome Kozlowski-Tsuruta, síndrome de Kozlowski-Tsuruta-Syndrom Sindrome di Kozlowski-Tsuruta Syndrome de Kozlowski-Tsuruta Síndrome de Kozlowski-Tsuruta Síndrome de Kozlowski-Tsuruta Dysplastic cortical hyperostosis Hiperostose cortical displásica Hiperostosis cortical displásica Hyperostose corticale dysplasique Hyperostosis corticalis, dysplastische Iperostosi corticale displasica hrdo:pat_id_3176 1664 malformation syndrome Embryonary disorganization syndrome Sindrome da disorganizzazione embrionale Syndrom der embryonalen Disorganisation Syndrome de désorganisation embryonnaire Síndrome de desorganización embrionaria Síndrome desorganização embrionária hrdo:pat_id_3181 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance C537438 neant Q30.1 1134 111317000 C0265740 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Agenesia del naso Agenesia nasal Agénésie du nez Nariz agenesia Nasal agenesia Nasenagenesie Nose agenesis Arhinie Arinia Arrhinia Arrhinie Arrinia Arrinia hrdo:pat_id_3182 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 208158 1485 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Johnston-Aarons-Schelley syndrome Johnston-Aarons-Schelley, síndrome de Johnston-Aarons-Schelley-Syndrom Sindrome di Johnston-Aarons-Schelley Syndrome de Johnston-Aarons-Schelley Síndrome de Johnston-Aarons-Schelley Arthrogrypose - Hyperkeratose, letaler Typ Arthrogrypose-hyperkératose létale Arthrogryposis - hyperkeratosis, lethal form Artrogriposi-ipercheratosi, forma letale Artrogriposis - hiperqueratosis, forma letal Contraturas - hiperqueratose - letalidade hrdo:pat_id_3183 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601358 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=nicolaides-baraitser+OR+%28nicolaides+AND+baraitser+AND+mental+retardation%29 3051 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Nicolaides-Baraitser syndrome Nicolaides-Baraitser, síndrome de Nicolaides-Baraitser-Syndrom Sindrome di Nicolaides-Baraitser Syndrome de Nicolaides-Baraitser Síndrome de Nicolaides-Baraitser Atraso mental - cabelo rarefeito - braquidactilia Déficit intelectual - hipotriquia - braquidactilia Déficit intellectuel - hypotrichose - brachydactylie Geistige Retardierung - spärliches Haar - Brachydaktylie Intellectual deficit - sparse hair - brachydactyly Ritardo mentale - ipotrichia - brachidattilia hrdo:pat_id_3184 3331 malformation syndrome Chitty-Hall-Webb syndrome Chitty-Hall-Webb, síndrome de Chitty-Hall-Webb-Syndrom Sindrome di Chitty-Hall-Webb Syndrome de Chitty-Hall-Webb Síndrome de Chitty-Hall-Webb Síndrome de Chitty-Hall-Webb Anomalie della tibia e del radio - osteopenia - fratture Bowed tibiae - radial anomalies - osteopenia - fractures Encurvamento das tíbias - anomalias do rádio - osteopenia - fraturas Tibia et radius anormaux - ostéopénie - fractures Tibia y radio anormales osteopenia fracturas Tibiaverbiegung - Radiusanomalien - Osteopenie-bedingte Frakturen hrdo:pat_id_3187 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 601353 C537933 neant Q87.8 1272 C0795941 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Brachicefalia - sordità - cataratta - ritardo mentale Brachycephaly - deafness - cataract - intellectual deficit Brachycéphalie - surdité - cataracte - déficit intellectuel Brachyzephalie - Schwerhörigkeit - Katarakt - geistige Retardierung Fine-Lubinsky, síndrome de Síndrome de Fine-Lubinsky Braquicefalia - surdez - catarata - atraso mental Fine-Lubinsky syndrome Fine-Lubinsky-Syndrom Sindrome di Fine-Lubinsky Syndrome de Fine-Lubinsky Síndrome de Fine-Lubinsky hrdo:pat_id_3188 1779 malformation syndrome Dismorfia fisura palatina piel laxa Dismorfias - fenda palatina - pele redundante Dismorfismo - schisi palatina - cute ridondante Dysmorphie - fente palatine - excès de peau Dysmorphien - Gaumenspalte - lose Haut Dysmorphism - cleft palate - loose skin hrdo:pat_id_3189 2184 malformation syndrome Palmer-Pagon syndrome Palmer-Pagon, síndrome de Palmer-Pagon-Syndrom Sindrome di Palmer-Pagon Syndrome de Palmer-Pagon Síndrome de Palmer-Pagon Síndrome de Palmer-Pagon Hidrocefalia - inserção baixa do umbigo Hidrocefalia - ombligo de inserción baja Hydrocephaly - low insertion umbilicus Hydrocéphalie - implantation basse de l'ombilic Hydrozephalus - tief inserierende Nabelschnur Idrocefalo - ombelico a basso impianto hrdo:pat_id_3191 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q87.8 1101 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cassia Stocco dos Santos syndrome Cassia-Stocco-dos Santos, síndrome de Cassia-Stocco-dos Santos-Syndrom Sindrome di Cassia-Stocco-Dos Santos Syndrome de Cassia-Stocco-Dos Santos Síndrome de Cassia-Stocco-dos Santos Síndrome de Cassia-Stocco-dos Santos Anoftalmia - megalocornea - cardiopatia - anomalie scheletriche Anoftalmia - megalocórnea - cardiopatia - anomalias ósseas Anoftalmia - megalocórnea - cardiopatía - anomalías esqueléticas Anophtalmie - mégalocornée - cardiopathie - anomalies squelettiques Anophthalmia - megalocornea - cardiopathy - skeletal anomalies Anophthalmie - Megalokornea - Kardiopathie - Skelettanomalien hrdo:pat_id_3192 1894 malformation syndrome Kasznica-Carlson-Coppedge syndrome Kasznica-Carlson-Coppedge, síndrome de Kasznica-Carlson-Coppedge-Syndrom Sindrome di Kasznica-Carlson-Coppedge Syndrome de Kasznica-Carlson-Coppedge Síndrome de Kasznica-Carlson-Coppedge Síndrome de Kasznica-Carlson-Coppedge Ectrodactilia - espina bífida - cardiopatía Ectrodactilia - espinha bífida - cardiopatia Ectrodactylie - spina bifida - cardiopathie Ectrodactyly - spina bifida - cardiopathy Ectrodattilia - spina bifida - cardiopatia Ektrodaktylie - Spina bifida - Kardiopathie hrdo:pat_id_3195 1530 malformation syndrome Craneosinostosis - cataratas Craniostenose - cataratas Craniostenosi - cataratta Craniosynostose - cataracte Craniosynostosis - cataract Kraniosynostose - Katarakt hrdo:pat_id_3196 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis C536270 3271 C2931149 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Buntinx-Lormans-Martin syndrome Buntinx-Lormans-Martin, síndrome de Buntinx-Lormans-Martin-Syndrom Sindrome di Buntinx-Lormans-Martin Syndrome de Buntinx-Lormans-Martin Síndrome de Buntinx-Lormans-Martin Radio-ulnar synostosis - retinal pigment abnormalities Radioulnare Synostose - Retinapigmentanomalien Sinostose radio-cubital - retinite pigmentosa Sinostosi radiocubitale - retinite pigmentosa Sinostosis radiocubital - retinosis pigmentaria Synostose radio-cubitale - rétinite pigmentaire hrdo:pat_id_3198 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 107600 neant Q84.8 1114 malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown ACCV Aplasia Cutis Congenita Verticis Zirkumskripte Hautaplasie des Scheitels Aplasia cutanea circoscritta del vertice Aplasia cutis verticis congenita Aplasia cutánea circunscrita de vertex Aplasia cutânea focal do vertex Aplasie cutanée circonscrite du cuir chevelu Circumscribed cutaneous aplasia of the vertex hrdo:pat_id_32 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter D011051 10036012 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Poliomyelitis%5Bmajr%5D+OR+Poliomyelitis%5Bti%5D A80 2912 398102009 C0032371 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Poliomielite Poliomielite Poliomielitis Poliomyelitis Poliomyelitis Poliomyélite hrdo:pat_id_3200 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 223340 neant Q87.8 3439 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 DK phocomelia syndrome DK-Phokomelie-Syndrom Focomelia - trombocitopenia - encefalocele - malformazioni urogenitali Focomelia - trombocitopenia - encefalocelo - malformações urogenitais Focomelia DK, síndrome Phocomelia - thrombocytopenia - encephalocele - urogenital malformations Phocomélie - thrombocytopénie - encéphalocèle - malformations uro-génitales Phokomelie - Thrombozytopenie - Enzephalozele - urogenitale Fehlbildungen Sindrome DK focomelia Syndrome DK phocomélie Síndrome focomelia DK Sindrome di Von Voss-Cherstvoy Syndrome de Von Voss-Cherstvoy Síndrome de Von Voss-Cherstvoy Síndrome de von Voss-Cherstvoy Von Voss-Cherstvoy syndrome Von-Voss-Cherstvoy-Syndrom hrdo:pat_id_3202 neant 1217 disease Hamano-Tsukamoto syndrome Hamano-Tsukamoto, síndrome de Hamano-Tsukamoto-Syndrom Sindrome di Hamano-Tsukamoto Syndrome de Hamano-Tsukamoto Síndrome de Hamano-Tsukamoto Síndrome de Hamano-Tsukamoto Atrofia espinal - oftalmoplejia - síndrome piramidal Atrofia espinhal - oftalmoplegia - síndrome piramidal Atrofia spinale - oftalmoplegia - sindrome piramidale Atrophie spinale - ophtalmoplégie - syndrome pyramidal Atrophie, spinale - Ophthalmoplegie - Pyramidenbahn-Symptomatik Spinal atrophy - ophthalmoplegia - pyramidal syndrome hrdo:pat_id_3206 1681 morphological anomaly Diprosopia Diprosopia Diprosopia Diprosopia Diprosopie Diprosopie hrdo:pat_id_3207 2680 malformation syndrome Boylan-Dew syndrome Boylan-Dew, síndrome de Boylan-Dew-Syndrom Sindrome di Boylan-Dew Syndrome de Boylan-Dew Síndrome de Boylan Dew Síndrome de Boylan-Dew Hypomyelination neuropathy - arthrogryposis Neuropathie hypomyélinisante - arthrogrypose Neuropathie, hypomyelinisierte - Arthrogrypose Neuropatia ipomielinizzante - artrogriposi Neuropatia por hipomielinização - artrogripose Neuropatía por hipomielinización artrogriposis hrdo:pat_id_321 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 135900 614562 614607 614608 614609 C536436 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Coffin+Siris%5BTW%5D+OR+%28Coffin%5BTW%5D+AND+siris%5BTW%5D%29 Q87.1 1465 10007009 C0265338 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Coffin-Siris syndrome Coffin-Siris-Syndrom Sindrome di Coffin-Siris Syndrome de Coffin-Siris Síndrome de Coffin-Siris Síndrome de Coffin-Siris hrdo:pat_id_3214 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 235255 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Mullerian+derivatives+lymphangiectasis+polydactyly 1655 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Síndrome de Urioste-Martinez-Frias Urioste-Martinez-Frias, síndrome de Derivados Mullerianos - linfangiectasia - polidactilia Derivados mullerianos - linfangiectasia - polidactilia Derivati Mülleriani - linfangectasia - polidattilia Dérivés mullériens - lymphangiectasies - polydactylie Mullerian derivatives - lymphangiectasia - polydactyly Müller-Gang-Derivate - Lymphangiektasie - Polydaktylie hrdo:pat_id_3215 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 1534 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Imaizumi-Kuroki syndrome Imaizumi-Kuroki, síndrome de Imaizumi-Kuroki-Syndrom Sindrome di Imaizumi-Kuroki Syndrome d'Imaizumi-Kuroki Síndrome de Imaizumi-Kuroki Síndrome de Imaizumi-Kuroki Craneosinostosis - aplasia radial, tipo Imaizumi Craniosinostosi-aplasia radiale, tipo Imaizumi Craniossinostose - aplasia radial, tipo Imaizumi Craniosynostose - aplasie radiale, type Imaizumi Craniosynostosis-radial aplasia, Imaizumi type Kraniosynostose - Radiusaplasie, Typ Imaizumi hrdo:pat_id_3219 601438 C537609 neant Q78.8 2831 C1832359 malformation syndrome Displasia rizomelica, tipo Patterson-Lowry Displasia rizomélica tipo Patterson-Lowry Displasia rizomelica di Patterson-Lowry Displasia rizomélica de Patterson-Lowry Dysplasie rhizomélique de Patterson-Lowry Dysplasie, rhizomele, Typ Patterson-Lowry Rhizomelic dysplasia, Patterson-Lowry type Síndrome de Patterson-Lowry hrdo:pat_id_3221 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q87.8 1129 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Kosztolanyi syndrome Kosztolanyi, síndrome de Kosztolanyi-Syndrom Sindrome di Kosztolanyi Syndrome de Kosztolanyi Síndrome de Kosztolanyi Arachnodactylie - ossification anormale - déficit intellectuel Arachnodactyly - abnormal ossification - intellectual deficit Arachnodaktylie - Ossifikationsstörungen - geistige Retardierung Aracnodactilia - defeitos da ossificação - atraso mental Aracnodactilia - osificación anormal - déficit intelectual Aracnodattilia - anomalia dell'ossificazione - ritardo mentale hrdo:pat_id_3222 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q87.8 1383 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Schaap-Taylor-Baraitser syndrome Schaap-Taylor-Baraitser, síndrome de Schaap-Taylor-Baraitser-Syndrom Sindrome di Schaap-Taylor-Baraitser Syndrome de Schaap-Taylor-Baraitser Síndrome de Schaap Taylor Baraitser Síndrome de Schaap-Taylor-Baraitser Cataract - deafness - hypogonadism Cataract - deafness - hypogonadism Cataracte - surdité - hypogonadisme Catarata - surdez - hipogonadismo Cataratta - sordità - ipogonadismo Katarakt - Schwerhörigkeit - Hypogonadismus hrdo:pat_id_3224 600989 neant 1849 malformation syndrome Displasia renal dominante estenosis infundibulo pélvica Displasia renale dominante - stenosi infundibolo-pelvica Dysplasie rénale autosomique dominante - sténose infundibulo-pelvienne Estenose infundibulopélvica - rim multiquístico Infundibulopelvic stenosis - multicystic kidney Ureterabgangstenose - polyzystische Nierendegeneration hrdo:pat_id_3225 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 602558 neant Q87.0 1524 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Craniomicromelic syndrome Kranio-mikromeles Syndrom Sindrome craniomicromelica Syndrome cranio-micromélique Síndrome cranio-micromélico Síndrome cráneo-micromélico hrdo:pat_id_3226 1123 malformation syndrome Lynch-Lee-Murday syndrome Lynch-Lee-Murday, síndrome de Lynch-Lee-Murday-Syndrom Sindrome di Lynch-Lee-Murday Syndrome de Lynch-Lee-Murday Síndrome de Lynch-Lee-Murday Síndrome de Lynch-Lee-Murday Appendice caudal - surdité Appendice caudale - sordità Appendix, kaudaler - Schwerhörigkeit Apéndice caudal - sordera Apêndice caudal - surdez Caudal appendage - deafness hrdo:pat_id_3229 3263 malformation syndrome Singnatia - fenda do palato Singnatia - fisura palatina Singnazia - schisi palatina Syngnathia - cleft palate Syngnathie - Gaumenspalte Syngnathie - fente palatine hrdo:pat_id_323 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 124200 D007644 10023369 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%22keratosis+follicularis%22%5BTIAB%5D+NOT+Medline%5BSB%5D%29+OR+%22keratosis+follicularis%22%5BMeSH+Terms%5D+OR+%22Darier+disease%22%5BText+Word%5D Q82.8 218 48611009 C0022595 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Cheratosi follicolare Darier-White disease Darier-White-Krankheit Dyskeratosis follicularis Dyskératose folliculaire Enfermedad de Darier-White Keratosis follicularis Keratosis vegetans Maladie de Darier-White Malattia di Darier-White Queratose folicular Queratosis folicular Darier disease Darier-Krankheit Doença de Darier Enfermedad de Darier Maladie de Darier Malattia di Darier hrdo:pat_id_3233 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601559 C537502 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28stuve%5Bau%5D+AND+wiedemann%5Bau%5D%29+OR+stuve-wiedemann%5Btw%5D Q78.8 3206 254097005 C0432240 C0796176 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Displasia de Stuve-Wiedemann Displasia di Stuve-Wiedemann Dysplasie de Stuve-Wiedemann Stuve-Wiedemann dysplasia Stüve-Wiedemann Dysplasie Displasia de Stuve-Wiedemann Sindrome di Stuve-Wiedemann Stuve-Wiedemann syndrome Stüve-Wiedemann-Syndrom Syndrome de Stuve-Wiedemann Síndrome de Stuve-Wiedemann hrdo:pat_id_3237 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q78.4 1844 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Bone dysplasia, Azouz type Displasia ossea, tipo Azouz Displasia ósea tipo Azouz Displasia óssea tipo Azouz Dysplasie osseuse type Azouz Skelettdysplasie Typ Azouz hrdo:pat_id_3238 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 604916 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Okamoto+syndrome+hydronephrosis+mental+retardation+hypotonia Q87.8 2729 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Okamoto syndrome Okamoto-Syndrom Sindrome di Okamoto Syndrome d'Okamoto Síndrome de Okamoto Síndrome de Okamuto hrdo:pat_id_324 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 264600 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=male%5Ball%5D+pseudohermaphroditism+%285+alpha+reductase%5BTw%5D+OR+testosterone+5+alpha+reductase%5Bmh%5D+OR+cholestenone+5+alpha-reductase%5Bmh%5D%29 Q56.1 753 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Déficit de 5-alfa-reductasa de tipo 2 Hipospadias perineo-escrotal pseudo-vaginal Hipospadias perineoescrotal pseudovaginal Male pseudohermaphroditism due to 5-alpha-reductase 2 deficiency Pseudoermafroditismo maschile da deficit di 5-alfa-reduttasi 2 Pseudohermaphrodisme masculin par déficit en 5-alpha-réductase de type 2 Pseudohermaphroditismus, männlicher, durch 5-Alpha-Reduktase 2-Mangel 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency Anomalie du développement sexuel 46,XY due à un déficit en 5-alpha-réductase Disturbo dello sviluppo sessuale 46,XY da deficit di 5-alfa-reduttasi 2 Pseudo-hermafroditismo masculino por deficiência de 5-alfa-redutase 2 Pseudohermafroditismo masculino por déficit en 5-alfa-reductasa de tipo 2 Störung der Geschlechtsentwicklung 46,XY, durch 5-Alpha-Reduktase 2-Mangel hrdo:pat_id_3243 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 179900 204000 204100 604232 604393 604537 608553 610612 611755 612712 613341 613826 613829 613835 613837 613843 614186 D057130 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28optic+atrophy,+hereditary%5Bmajr%5D+OR+blindness%5Bmajr%5D%29+AND+leber%5Btw%5D+AND+amaurosis%5Btw%5D H35.5 65 193413001 C0339527 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Amaurose congénita de Leber Amaurosis congenita of Leber Amaurosis congénita de Leber Leber, amaurose congénita de Amaurose congénita de Leber Amaurose congénitale de Leber Amaurosi congenita di Leber Amaurosis congenita Leber Amaurosis congénita de Leber Leber congenital amaurosis hrdo:pat_id_3244 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 209900 210350 D020788 10056715 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=bardet+biedl+syndrome%5Bmh%5D+OR+Bardet+Biedl+syndrome%5Btw%5D Q87.8 110 5619004 C0752166 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 BBS BBS BBS BBS BBS Bardet-Biedl syndrome Bardet-Biedl-Syndrom Sindrome di Bardet-Biedl Syndrome de Bardet-Biedl Síndrome de Bardet-Biedl Síndrome de Bardet-Biedl hrdo:pat_id_3245 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 120435 609310 613244 614331 614337 614350 614385 D003123 10051981 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=colorectal+neoplasms,+hereditary+nonpolyposis%5Bmajr%5D C18 144 315058005 C1333990 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cancer colorectal familial sans polypose Cancer colorectal héréditaire sans polypose Cancer du côlon familial non polyposique Cancro colo-rectal não-poliposo familiar Cancro colo-retal não-poliposo familiar Cancro colon-rettale non poliposico ereditario Cancro colorettale non poliposico familiare Cancro non poliposico familiare del colon Cáncer colorrectal familiar no polipósico Cáncer colorrectal hereditario no polipósico Cáncer de colon familiar no polipósico Familial nonpolyposis colon cancer Familial nonpolyposis colorectal cancer HNPCC HNPCC HNPCC HNPCC HNPCC HNPCC Hereditary nonpolyposis colorectal cancer Karzinom, kolorektales nicht-polypöses, familiäre Form Lynch syndrome Lynch-Syndrom Sindrome di Lynch Syndrome de Lynch Síndrome de Lynch Cancer du côlon héréditaire non polyposique Cancro do cólon não-poliposo familiar Cancro non poliposico ereditario del colon Cáncer de colon hereditario no polipósico Hereditary nonpolyposis colon cancer Kolonkarzinom, familiäres nicht-polypöses hrdo:pat_id_3247 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 133700 133701 175450 600209 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%22exostoses%22%5Ball%5D+AND+multiple%5Bti%5D+NOT+medline%5Bsb%5D%29+OR+%22exostoses%2C+multiple+hereditary%22%5BMeSH+Terms%5D Q78.6 321 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Bessel-Hagen disease Bessel-Hagen-Krankheit EXT1/EXT2-CDG syndrome Enfermedad de Bessel-Hagen Esostosi cartilaginee multiple Exostosen, multiple Exostosis cartilaginosa múltiple Maladie de Bessel-Hagen Malattia di Bessel-Hagen Multiple cartilaginous exostoses Osteocondromas múltiplos Ostéochondromes multiples Sindrome EXT1/EXT2-CDG Syndrome EXT11/EXT2-CDG Síndrome EXT1/EXT2-CDG Exostoses múltiplas Maladie des exostoses multiples Multiple osteochondromas Osteochondrome, multiple Osteocondromas múltiples Osteocondromi multipli hrdo:pat_id_3249 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 147950 244200 308700 610628 612370 612702 614838 614858 614880 614897 D017436 10053142 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22kallmann+syndrome%22%5BMeSH+Terms%5D+OR+%28Kallmann+syndrome%5BText+Word%5D+NOT+medline%5Bsb%5D%29 E23.0 478 93559003 C0162809 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Esporádica Esporádico Ligado ao X recessivo Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X Sporadic Sporadic Sporadica Sporadique Sporadisch X-chromosomal-rezessiv X-linked recessive X-linked recessive disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Congenital hypogonadotropic hypogonadism with anosmia Hipogonadismo hipogonadotrófico - anosmia Hypogonadisme hypogonadotrophique congénital avec anosmie Hypogonadismus, hypogonadotroper - Anosmie Kallmann syndrome Kallmann-Syndrom Sindrome di Kallmann Syndrome de Kallmann Síndrome de Kallmann Síndrome de Kallmann hrdo:pat_id_325 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=TPI+defic*%5Btw%5D+OR+triose+phosphate+isomerase/df%5BMH%5D+OR+Triose+phosphate+isomerase+defic*%5BTW%5D+OR+Triosephosphate+isomerase+defic*%5BTW%5D D55.2 868 234405009 C0398562 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo no type <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficit di triosofosfato-isomerasi Deficiência de triose-fosfato isomerase Déficit de triosa fosfato-isomerasa Déficit en triose phosphate-isomérase Triose phosphate-isomerase deficiency Triosephosphat-Isomerase-Mangel hrdo:pat_id_3250 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 262500 D046150 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=laron+dwarfism%5Bti%5D+OR+laron+syndrome%5Bti%5D+OR+laron%27s+syndrome%5Bti%5D+OR+%22laron+syndrome%22%5BMH%5D E34.3 633 38196001 C0271568 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Bassa statura da resistenza all'ormone della crescita Complete growth hormone insensitivity Deficit del recettore dell'ormone della crescita Deficit del recettore di GH Déficit de receptor de la GH Déficit de receptor de la hormona del crecimiento Déficit du récepteur à l'hormone de croissance Enanismo tipo Laron Estatura baja debido a resistencia a la hormona del crecimiento GH receptor deficiency GH-Insensitivität, primäre GH-Resistenz, primäre GH-Rezeptor-Mangel Growth hormone receptor deficiency Insensibilidad completa a la hormona del crecimiento Insensibilidad primaria a la GH Insensibilidad primaria a la hormona del crecimiento Insensibilità primaria al GH Insensibilità primaria all'ormone della crescita Insensibilité complète à l'hormone de croissance Insensibilité primaire à l'hormone de croissance Kleinwuchs durch Wachstumshormonresistenz Kleinwuchs, Typ Laron Laron, síndrome de Laron-type dwarfism Nanisme type Laron Nanismo, tipo Laron Primary GH insensitivity Primary GH resistance Primary growth hormone insensitivity Primary growth hormone resistance Resistencia primaria a la GH Resistencia primaria a la hormona del crecimiento Resistenza completa all'ormone della crescita Resistenza primaria al GH Resistenza primaria all'ormone della crescita Résistance primaire à l'hormone de croissance Short stature due to growth hormone resistance Síndrome de Laron Wachstumshormon-Insensitivität, komplette Wachstumshormon-Insensitivität, primäre Wachstumshormon-Resistenz, primäre Wachstumshormon-Rezeptor-Mangel Laron syndrome Laron-Syndrom Nanismo por insensibilidade à hormona do crescimento Sindrome di Laron Syndrome de Laron Síndrome de Laron hrdo:pat_id_3251 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28otopalatodigital+syndrome%5Btw%5D+OR+oto+palato+digital%5Btw%5D+OR+OPD+syndrome%5Btw%5D%29 Q87.0 669 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome di Taybi Syndrome de Taybi Síndrome de Taybi Taybi syndrome Taybi, síndrome de Taybi-Syndrom Oto-palato-digitales Syndrom Otopalatodigital syndrome Sindrome oto-palato-digitale Syndrome otopalatodigital Síndrome oto-palato-digital Síndrome oto-palato-digital (OPD) hrdo:pat_id_3252 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 182900 270970 612653 612690 C536356 D013103 10019904 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hereditary+spherocytosis%5Bti%5D+OR+%28spherocytosis%2C+hereditary%5Bmh%5D+AND+humans%5Ball%5D%29 D58.0 822 55995005 C0037889 C0221409 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Enfermedad de Minkowski-Chauffard Maladie de Minkowski-Chauffard Minkowski-Chauffard disease Minkowski-Chauffard-Syndrom Sindrome di Minkowski-Chauffard Esferocitose hereditária Esferocitosis hereditaria Hereditary spherocytosis Sferocitosi ereditaria Sphärozytose, hereditäre Sphérocytose héréditaire hrdo:pat_id_3253 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Variabel Variabile Variable Variable Variable Variable Variável 194400 278700 278720 278730 278740 278750 278760 278780 610651 D014983 10048220 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=xeroderma+pigmentosum%5Bmh%5D+OR+Xeroderma+pigmentosum%5Bti%5D Q82.1 910 44600005 C0043346 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 XP XP XP XP XP Xeroderma pigmentoso Xeroderma pigmentoso Xeroderma pigmentosum Xeroderma pigmentosum Xeroderma pigmentosum Xerodermia pigmentosa hrdo:pat_id_3256 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 300046 300047 300062 300114 300115 300143 300210 300271 300324 300355 300372 300387 300419 300428 300433 300436 300454 300498 300504 300505 300518 300551 300558 300699 300705 300716 300802 300803 300844 300848 300849 300850 300851 300852 309530 309541 309549 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22x-linked+mental+retardation%22%5BText+Word%5D+OR+%22mental+retardation%2C+x-linked%22%5BMeSH+Terms%3Anoexp%5D F79 777 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive etiological subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Déficit intelectual inespecífico ligado al X Déficit intellectuel lié à l'X, non spécifique Geistige Retardierung, nicht-syndromale, X-chromosomale Nonspecific X-linked intellectual deficit Ritardo mentale non specifico legato all'X Atraso mental ligado ao X, não-específico Déficit intelectual no sindrómico ligado al X Déficit intellectuel lié à l'X non-syndromique Geistige Retardierung, unspezifische, X-chromosomale Ritardo mentale non sindromico legato all'X X-linked nonsyndromic intellectual deficit hrdo:pat_id_3257 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 266200 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=pyruvate+kinase/df%5Bmajr%5D D55.2 766 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Deficit di piruvato chinasi negli eritrociti Déficit en pyruvate kinase érythrocytaire Pyruvate kinase deficiency of erythrocytes Pyruvatkinase-Mangel der Erythrozyten Anemia emolitica da deficit di piruvato chinasi negli eritrociti Anemia hemolítica debido a déficit de piruvato quinasa de los glóbulos rojos Anémie hémolytique due à un déficit en pyruvate kinase du globule rouge Deficiência de piruvato cinase Hemolytic anemia due to red cell pyruvate kinase deficiency Hämolytische Anämie durch Mangel der erythrozytären Pyruvatkinase hrdo:pat_id_3258 Variabel Variabile Variable Variable Variable Variable Variável 607086 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28dissecting+aneurysm/ge+OR+familial+aortic+dissection%5Btw%5D+OR+erdheim%5Btw%5D+OR+cystic+medial+necrosis%5Btw%5D%29+aortic+aneurysm%5Bmh%5D I71.0 229 disease Aneurisma disseccante familiare dell'aorta Annuloaortic ectasia Cystic medial necrosis of aorta Doença de Erdheim Ectasia anulo-aórtica Ektasie, annulo-aortale Enfermedad aórtica anulo-ectasiante Enfermedad de Erdheim Erdheim disease Erdheim, disease Erdheim-Krankheit Maladie aortique annulo-ectasiante Maladie d'Erdheim Malattia di Erdheim Médianécrose kystique de l'aorte Necrose quística da média da aorta Necrosi cistica della media dell'aorta Necrosis quística de la media de la aorta Zystische Medianekrose der Aorta Aortendissektion, familiäre Disección aórtica familiar Dissection aortique familiale Dissecção da aorta, familiar Dissezione familiare dell'aorta Familial aortic dissection hrdo:pat_id_3259 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 153800 603075 608895 610149 610698 611378 611488 611953 613757 613761 613778 613784 10064930 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=macular+degeneration%5Bmajr:noexp%5D+AND+aged%5Bmh%5D+NOT+child%5Bmh%5D H35.3 279 267718000 C0242383 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Age-related macular degeneration Degeneración macular asociada a la edad Degenerazione maculare legata all'età Degenerescência macular pela idade Dégénérescence maculaire liée à l'âge Makuladegeneration, altersabhängige hrdo:pat_id_3260 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 251100 251110 277410 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=methylmalonic+acid%5Bmajr%5D+AND+vitamin+b+12%5Bmajr%5D+NOT+methylmalonyl-coa+mutase/df%5Bmh%5D E71.1 28 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acidemia metilmalónica sensível à vitamina B12 Aciduria metilmalonica sensibile alla vitamina B12 Acidurie méthylmalonique sensible à la vitamine B12 Adenosylcobalamin deficiency Déficit en adénosylcobalamine Methylmalonazidämie, Vitamin B12-abhängige Vitamin B12-responsive methylmalonic aciduria Acidemia metilmalonica sensibile alla vitamina B12 Acidemia metilmalónica sensible a la vitamina B12 Acidémie méthylmalonique sensible à la vitamine B12 Acidúria metilmalónica sensível à vitamina B12 Methylmalonazidurie, Vitamin B12-abhängige Vitamin B12-responsive methylmalonic acidemia hrdo:pat_id_3263 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 118830 207750 238600 D008072 10020606 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=familial+lipoprotein+lipase+defic*%5Btw%5D+OR+lipoprotein+lipase+deficiency%2C+familial%5Bmh%5D+OR+Familial+chylomicronemia%5Btw%5D E78.3 411 238086005 267435002 275598004 403827000 C0023817 C1706413 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Apolipoprotein CII-Mangel Apolipoproteína C-II, deficiência de Deficit di apolipoproteina C-II Deficit di lipoproteina lipasi Deficiência de apolipoproteína C-II Deficiência de lipoproteína lipase Familial hyperchylomicronemia Hiperlipoproteinemia tipo I Hiperquilomicronemia familiar Hiperquilomicronemia familiar Hyperchylomicronémie familiale Hyperchylomikroanämie, familiäre Hyperlipoprotéinémie type I Iperchilomicronemia familiare Lipoproteinlipase-Mangel Lipoproteína lipase, deficiência de Hiperlipoproteinemia tipo 1 Hiperlipoproteinemia tipo 1 Hyperlipoproteinemia type 1 Hyperlipoproteinämie Typ 1 Hyperlipoprotéinémie type 1 Iperlipoproteinemia, tipo 1 hrdo:pat_id_3264 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D006952 10060751 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hyperlipoproteinemia+type+iii%5Bmajr%5D E78.2 412 398796005 C0020479 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Betalipoproteinemia múltipla Broad-betalipoproteinemia Dislipoproteinemia da banda beta ampia Dyslipoprotéinémie à 'broad-beta' Hyperlipidémie type 3 Hyperlipoproteinemia type 3 Hiperlipidemia tipo 3 Hiperlipoproteinemia tipo 3 Hyperlipidemia type 3 Hyperlipoproteinämie Typ 3 Hyperlipoprotéinémie type 3 Iperlipoproteinemia, tipo 3 hrdo:pat_id_3266 Variabel Variabile Variable Variable Variable Variable Variável 609152 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hyperthyroidism%5Bmajr%5D+AND+receptors,+thyrotropin%5Bmajr%5D+NOT+grave%27s+disease%5Bmh%5D E05.8 424 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Familial non-immune hyperthyroidism Hyperthyreose, nicht-immune, familiäre Form Hyperthyroïdie non-immune familiale Ipertiroidismo non immune familiare Resistance to thyroid stimulating hormone Resistencia a la hormona estimulante de tiroides Resistenz gegen Schilddrüsenhormone Resistência à TSH Résistance à la TSH TSH, resistência à Familial hyperthyroidism due to mutations in TSH receptor Hipertiroidismo familiar por mutaciones de receptor de TSH Hipertiroidismo familiar por mutação no recetor da TSH Hyperthyreose durch TSH-Rezeptor-Genmutationen, familiäre Form Hyperthyroïdie familiale par mutation du récepteur de la TSH Ipertiroidismo familiare da mutazioni del recettore TSH hrdo:pat_id_3267 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 612336 614514 neant D68.5 743 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Deficit congenito della proteina S Deficiência de proteína S Déficit congénito de proteína S Hereditary thrombophilia due to congenital protein S deficiency Protein-S-Mangel, kongenitaler Thrombophilie héréditaire due au déficit congénital en protéine S hrdo:pat_id_3268 Normal Normal Normal Normal Normal Normal Normale Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 119915 D003027 10059133 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22cluster+headache%22%5BMeSH+Terms%5D+OR+Cluster+headache%5BText+Word%5D G44.0 1002 193031009 230473009 C0009088 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 AVF Bing-Horton-Syndrom CH CH CH CH Cefalalgia da istamina Cefalalgia istaminica Cefalea da istamina Cefalea de Horton Cefalea del suicida Cefalea di Horton Cefalea en racimos Cefalea histamínica Ciliary neuralgia Cluster migraine Cluster-Kopfschmerz-Syndrom Cluster-Migräne Céphalée de Horton Céphalée en grappe Céphalée vasculaire de Horton Dolor de cabeza histamínico Dolor de cabeza suicida Emicrania a grappolo Emicrania rossa Eritromelalgia de la cabeza Eritromelalgia del capo Eritroprosopalgia de Bing Eritroprosopalgia di Bing Erythromelalgia of the head Erythroprosopalgia of Bing Erythroprosopalgie Histamin-Kopfschmerz Histamine cephalalgia Histamine headache Histaminic cephalalgia Histaminkephalgie Horton's headache Horton-Neuralgie Migraine rouge Migrainous neuralgia Migraña en racimo Migraña roja Neuralgia ciliar Neuralgia migrañosa Nevralgia ciliare Nevralgia emicranica Red migraine Selbstmord-Kopfschmerz Suicide headache Ziliarneuralgie Algie vasculaire de la face Cefalea a grappolo Cefaleia em salvas Cluster headache Cluster-Kopfschmerz Dolor de cabeza en racimo hrdo:pat_id_3271 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 240600 E74.0 2089 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficiência de glicogénio sintetase hepática Enfermedad de almacenamiento de glucógeno tipo 0a GSD Typ 0 GSD da deficit di glicogeno sintasi epatica GSD due to hepatic glycogen synthase deficiency GSD par déficit en glycogène synthase hépatique GSD por déficit de glucógeno sintasa hepática GSD tipo 0a GSD type 0a GSD type 0a GSD, tipo 0a Glicogenosi, tipo 0a Glicogénio sintetase hepática, deficiência de Glucogenosis tipo 0a Glycogen storage disease due to liver glycogen synthase deficiency Glycogen storage disease type 0a Glycogenosis type 0a Glycogénose type 0a Glykogen-Speicherkrankheit Typ 0 Glykogenose Typ 0 Glykogensynthase-Mangel, hepatischer Glykogensynthetase-Mangel, hepatischer Malattia da deposito di glicogeno, tipo 0a Enfermedad de almacenamiento de glucógeno por déficit de glucógeno sintasa hepática Glicogenose tipo 0 Glycogen storage disease due to hepatic glycogen synthase deficiency Glycogènose par déficit en glycogène synthase hépatique Glykogensynthetase-Mangel der Leber Malattia da deposito di glicogeno dovuta a deficit di glicogeno sintasi epatica hrdo:pat_id_3275 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 610551 613002 614849 614850 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=%22herpetic+encephalopathy%22+OR+Encephalitis,+Herpes+Simplex B00.4+ G05.1* 1930 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Encéphalite à HSV Encéphalite à herpès simplex HSV encephalitis Herpes simplex encephalitis Herpes simplex neuroinvasion Neuro-invasion du virus de l'Herpès simplex Encefalite erpetica Encefalitis herpética Encefalopatia herpética Encéphalite herpétique Herpesenzephalitis Herpetic encephalitis hrdo:pat_id_3276 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 260920 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=((immunoproliferative+disorders)+IgD%5Bmh%5D+OR+(immunoglobulin+d+OR+IgD+OR+hyper+IgD%5Btw%5D))+(fever%5Bmh%5D+OR+fever%5Bti%5D) E88.8 343 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficiencia parcial de mevalonato quinasa Deficit parziale di mevalonato chinasi Déficit parcial de mevalonato quinasa Déficit partiel en mévalonate kinase Fièvre récurrente avec hyper-IgD Fièvre récurrente avec hyperimmunoglobulinémie D HIDS HIDS HIDS HIDS HIDS Hiper-IgD, síndrome Hiperimunoglobulinemia D com febre periódica Hiperinmunoglobulinemia D con fiebre recurrente Hyper-IgD syndrome Hyper-IgD-Syndrom Hyperimmunglobulinämie D mit periodischem Fieber Hyperimmunglobulinämie D-Syndrom Hyperimmunoglobinemia D with recurrent fever Hyperimmunoglobulinemia D syndrome Iperimmunoglobinemia D con febbre ricorrente Mevalonatkinase-Mangel Partial mevalonate kinase deficiency SHID Sindrome da iper-IgD Sindrome da iperimmunoglobulinemia D Syndrome hyper-IgD Síndrome de hiper-IgD Síndrome de hiperinmunoglobulinemia D Síndrome hiper-IgD Hiperimunoglobulinemia D com febre recorrente Hiperinmunoglobulinemia D con fiebre periódica Hyperimmunglobulinämie D mit Rückfallfieber Hyperimmunoglobulinemia D with periodic fever Iperimmunoglobulinemia D con febbre periodica Syndrome de fièvre périodique avec hyperimmunoglobulinémie D hrdo:pat_id_3277 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 613679 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hypoprothrombinemia%5Bmajr%5D D68.2 325 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficit di protrombina Deficiência de protrombina Disprotrombinemia Disprotrombinemia Dysprothrombinemia Dysprothrombinämie Dysprothrombinémie Déficit en prothrombine Hipoprotrombinemia Hypoprothrombinemia Hypoprothrombinämie Hypoprothrombinémie Ipoprotrombinemia Prothrombin deficiency Prothrombin-Mangel Protrombina, deficiência de Congenital factor II deficiency Deficit congenito di fattore II Deficiência de fator II Déficit congénital en facteur II Déficit congénito del factor II Faktor II-Mangel, kongenitaler hrdo:pat_id_3278 614486 C536900 neant D68.8 3324 C2931365 disease Thrombomodulin-Anomalie, familiäre Anomalias da trombomodulina, familiar Anomalie genetiche della trombomodulina Anomalies de la thrombomoduline Anomalías genéticas de la trombomodulina Familial thrombomodulin anomalies Thrombomodulin-Anomalie, genetisch bedingte hrdo:pat_id_3279 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 209920 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28immunologic+deficiency+syndromes%5BMH%3Anoexp%5D+OR+severe+combined+immunodeficiency%5Bmh%5D%29+AND+%28class+2%5Btw%5D+OR+class+II%5Btw%5D%29 D81.7 572 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 BLS (Bare Lymphocyte Syndrome) Typ II Bare lymphocyte syndrome type 2 Déficit immunitaire combiné sévère par défaut d'expression des molécules HLA de classe 2 HLA class 2-negative severe combined immunodeficiency Immundefekt, kombinierter schwerer, HLA Klasse-II negativ Immunodeficienza combinata grave da deficit di espressione delle molecole HLA di classe 2 Imunodeficiência combinada grave, HLA classe 2-negativa Inmunodeficiencia combinada grave, HLA clase 2-negativo Linfócitos desnudos, síndrome Sindrome dei linfociti nudi, tipo 2 Syndrome des lymphocytes dénudés type II Síndrome del linfocito desnudo tipo 2 Síndrome linfócitos desnudos Déficit d'expression des molécules HLA de classe 2 Expressão deficiente de HLA classe 2 Immundefekt durch HLA-Klasse II-Expressionsdefekt Immunodeficiency by defective expression of HLA class 2 Immunodeficienza da deficit di espressione delle molecole HLA di classe 2 Inmunodeficiencia por expresión deficiente del HLA de clase 2 hrdo:pat_id_328 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 146390 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(deletion%5Bti%5D+OR+monosomy+OR+loss%5Bti%5D)+18p%5Bti%5D+OR+18p-+syndrome%5Bti%5D+OR+(deletion%5Bti%5D+chromosome+18%5Bti%5D+%22short+arm%22) Q93.5 1598 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 18p- syndrome 18p-Syndrom De Grouchy syndrome De Grouchy-Syndrom Monossomia 18p Sindrome 18p- Sindrome di De Grouchy Syndrome 18p- Syndrome de délétion 18p de Grouchy Síndrome 18p- Síndrome de Grouchy Deleção 18p Monosomia 18p Monosomie 18p Monosomie 18p Monosomy 18p Monosomía 18p hrdo:pat_id_3280 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 269840 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=zap-70+kinase%5Bnm%5D+AND+protein-tyrosine+kinase/df%5Bmajr%5D D81.8 911 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficit della proteina associata alla catena zeta-70 Deficiência de proteína cinase 70 associada à cadeia zeta Déficit de proteína 70 asociada a zeta Déficit en protéine kinase associée à la chaîne zêta Proteína cinase 70 associada à cadeia zeta, deficiência de ZAP-70-Mangel Zeta-associated-protein 70 deficiency Combined immunodeficiency due to ZAP70 deficiency Déficit immunitaire combiné par déficit en ZAP70 Immundefekt, kombinierter schwerer, durch ZAP70-Mangel Immunodeficienza combinata da deficit di ZAP70 Imunodeficiência combinada grave por deficiência de ZAP70 Inmunodeficiencia combinada debido a déficit de ZAP70 hrdo:pat_id_3282 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Variabel Variabile Variable Variable Variable Variable Variável 10062506 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=heparin+induced+thrombopenia+%5Bti%5D+OR+%28heparin+thrombocytopenia/ci%29 D69.5 3325 73397007 C0272285 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown HIT TIH Heparin-induced thrombocytopenia Thrombopénie induite par l'héparine Thrombozytopenie, Heparin-induzierte Trombopenia indotta dall'eparina Trombopenia inducida por heparina Trombopenia induzida por heparina hrdo:pat_id_3290 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 250700 250790 250800 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=methemoglobinemia%5Bmajr%5D+AND+NADH,+NADPH+Oxidoreductases/df%5Bmajr%5D D74.0 621 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficiência de NADH diaforase Deficiência de NADH-citocromo b5 redutase Deficiência de NADH-meta-hemoglobina redutase Déficit de NADH citocromo b5 reductasa Déficit de NADH diaforasa Déficit de NADH metaemoglobina reductasa NADH diaforase, deficiência de NADH-Cytochrom b5-Reduktase-Mangel NADH-Diaphorase-Mangel NADH-Methämoglobin-Reduktase-Mangel NADH-citocromo b5 redutase, deficiência de NADH-meta-hemoglobina redutase, deficiência de Hereditary methemoglobinemia Meta-hemogloblubinemia hereditária recessiva Metahemoglobinemia congénita Metemoglobinemia ereditaria Methämoglobinämie, hereditäre Méthémoglobinémie congénitale hrdo:pat_id_3294 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 609015 D024741 neant E71.3 I43.1 746 237999008 C0342786 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Herencia mitocondrial Hérédité mitochondriale Mitochondrial inheritance Mitochondrial inheritance Mitochondriale Vererbung Modo de hereditariedade mitocondrial Trasmissione mitocondriale disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown MTP (mitochondriales trifunktionales Protein)-Mangel Defekt des mitochondrialen trifunktionalen Proteins Deficit della proteina trifunzionale mitocondriale Deficiência de proteína trifuncional mitocondrial Déficit de proteina trifuncional mitocondrial Déficit en protéine trifonctionnelle mitochondriale Mitochondrial trifunctional protein deficiency hrdo:pat_id_3295 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 248360 C535702 E72.8 943 124594007 361203007 C0342793 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficit di malonil-CoA decarbossilasi Deficiência de malonil-CoA descarboxilase Déficit en malonyl-CoA décarboxylase Malonil-CoA descarboxilase, deficiência de Malonyl-CoA decarboxylase deficiency Malonyl-CoA-Decarboxylase- Mangel Aciduria malonica Aciduria malónica Acidurie malonique Acidúria malónica Malonazidurie Malonic aciduria hrdo:pat_id_3296 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 246450 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=oxo-acid-lyases/df%5Bmajr%5D+AND+3-hydroxy-3-methylglutaryl-coenzyme+A+lyase%5Bnm%5D E71.1 20 410059004 C1533587 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown 3-Hydroxy-3-Methylglutaryl-CoA-Lyase-Mangel 3-hidroxi-3-metilglutaril-CoA liase, deficiência de 3-hydroxy-3-methylglutaryl-CoA lyase deficiency Deficit di 3-idrossi-3-metilglutaril-CoA liasi Deficiência de 3-hidroxi-3-metilglutaril-CoA liase Déficit en 3-hydroxy 3-méthylglutaryl-CoA lyase Hydroxymethylglutarazidurie Hydroxymethylglutaricaciduria Idrossi-metil-glutaricaciduria 3-Hydroxy-3-Methylglutarazidurie 3-hydroxy-3-methylglutaric aciduria Aciduria 3-hidroxi-3-metil-glutárica Aciduria 3-idrossi-3-metilglutarica Acidurie 3-hydroxy-3-méthylglutarique Acidúria hidroximetilglutárica hrdo:pat_id_3297 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 210200 210210 C535308 E71.1 6 124719001 13144005 C0268600 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown 3-Methylcrotonylglycinurie 3-methylcrotonylglycinuria 3-metilcrotonil glicinuria 3-metilcrotonil-CoA carboxilase, deficiência de 3-metilcrotonilglicinuria 3-méthylcrotonyl glycinurie Deficiencia aislada de 3-metilcrotonil-CoA carboxilasa Deficiencia de MCC Deficit di MCC Deficiência de 3-metilcrotonil-CoA carboxilase Déficit de MCC Déficit en MCC MCC deficiency MCC-Mangel MCCD MCCD MCCD MCCD MCCD 3-Methylcrotonyl-CoA-Carboxylase-Mangel, isolierter 3-metilcrotonilglicinúria Deficit isolato di 3-metilcrotonil-CoA carbossilasi Déficit aislado de 3-metilcrotonil-CoA carboxilasa Déficit isolé en 3-méthylcrotonyl-CoA carboxylase Isolated 3-methylcrotonyl-CoA carboxylase deficiency hrdo:pat_id_3298 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 245050 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Succinyl+CoA+%28acetoacetate+OR+3+ketoacid+OR+3+oxoacid%29+deficiency E71.3 832 238004006 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficit di SCOT Deficiência de SCOT Déficit en SCOT SCOT deficiency SCOT, deficiência de Deficit di succinil-CoA acetoacetato transferasi Deficiência de succinil-CoA acetoacetato transferase Déficit de succinil-CoA acetoacetato transferasa Déficit en succinyl-CoA acétoacétate transférase Succinyl-CoA Acetoacetat Transferase-Mangel Succinyl-CoA acetoacetate transferase deficiency hrdo:pat_id_3299 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 146450 300633 300758 300856 neant Q54 440 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Familial hypospadias Hipospadias, familiar Hipospadias, forma familiar Hypospadias familial Hypospadie, familäre Ipospadia, forma familiare hrdo:pat_id_330 601808 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=deletion+18q%5Bti%5D+OR+monosomy+18q%5Bti%5D+OR+deletion+18q-+syndrome%5Btw%5D Q93.5 1600 disease 18q- syndrome 18q-Syndrom Deleción 18q Deletion 18q Deletion 18q Delezione 18q Délétion 18q Monossomia 18q23 Sindrome 18q- Syndrome 18q- Síndrome 18q- Deleção 18q23 Monosomie 18q Monosomie 18q Monosomy 18q Monosomy 18q Monosomía 18q hrdo:pat_id_3304 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613470 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=glucose-6-phosphate+isomerase/df%5Bmajr%5D D55.2 712 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Phosphoglukose-Isomerase-Mangel Anemia emolitica da deficit di glucosio-fosfato isomerasi Anemia hemolítica por déficit de glucosa fosfato isomerasa Anémie hémolytique due au déficit en phosphoglucose isomérase Deficiência de glucose-fosfato isomerase Hemolytic anemia due to glucophosphate isomerase deficiency Hämolytische Anämie durch Glukosephosphat-Isomerase-Mangel hrdo:pat_id_3306 222800 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28bisphosphoglycerate+mutase/df%5Bmh%5D D55.2 714 disease Anemia emolitica da deficit di difosfoglicerato mutasi Anemia hemolítica por déficit de difosfoglicerato mutasa Anémie hémolytique par déficit en phosphoglycéromutase Deficiência de difosfosglicerato mutase eritrocitária Hemolytic anemia due to diphosphoglycerate mutase deficiency Hämolytische Anämie durch Diphosphoglycerat-Mutase-Mangel hrdo:pat_id_3313 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 229800 C538068 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=fructosuria+OR+%28fructokinase+OR+ketohexokinase%29+deficiency E74.1 2056 24338009 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficit di fruttochinasi Deficiência de frutocinase Déficit en fructokinase Déficit en kétohexokinase Fructokinase deficiency Fruktokinase-Mangel Frutocinase, deficiência de Ketohexokinase deficiency Ketohexokinase-Mangel Essential fructosuria Fructosuria esencial Fructosurie essentielle Fruktosurie Frutosúria Fruttosuria hrdo:pat_id_3316 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 212140 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=carnitine/df%5Bmajr%5D+AND+%22systemic+carnitine+deficiency%22 E71.3 158 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Carence systémique primaire en carnitine Carnitin-Mangel, primärer systemischer Carnitin-Transporter-Mangel des Gehirns Carnitine brain transporter deficiency Deficit del trasportatore della carnitina cerebrale Deficit primitivo sistemico di carnitina Deficiência de transportador cerebral da carnitina Déficit del transportador cerebral de carnitina Déficit en transporteur cérébral de la carnitine Forma sistémica de deficit primario de carnitina Primary systemic carnitine deficiency Transportador cerebral da carnitina, deficiência de Carnitin-Aufnahme-Mangel Carnitine uptake deficiency Deficiência na absorção de carnitina Difetto di captazione della carnitina Défaut de captation de la carnitine cellulaire Déficit en la captación de carnitina hrdo:pat_id_332 252270 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=((deletion%5Bti%5D+7q*%5Bti%5D)+OR+monosomy+7q*%5Bti%5D)+7q36* Q93.5 1636 malformation syndrome Delezione 7q36 distale Delezione 7q36 telomerica Distal deletion 7q36 Délétion distale 7q36 Délétion télomérique 7q36 Monosomia 7qter Monosomie 7q3 Monosomie 7qter Monosomy 7qter Monosomía 7q3 Monossomia 7q3 Telomeric deletion 7q36 Deleción 7q3 Deletion 7q3 Deleção 7q3 Distal monosomy 7q36 Monosomia 7q36 distale Monosomie distale 7q36 hrdo:pat_id_3321 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 117100 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Benign+epilepsy+%28rolandic%5Bti%5D+OR+centrotemporal%5Bti%5D+%29+spikes+OR+Epilepsy%2C+Rolandic%5Bmajr%5D G40.0 1945 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Autosomal dominant BECRS BECRS, autosomal-dominant BECRS, autosomica dominante Centrotemporal epilepsy Epilepsia centro-temporal Epilepsia centro-temporal Epilepsia rolándica benigna Epilepsie à pointes centro-temporales Epilepsie, zentrotemporale Epilessia centrotemporale Rolando-Epilepsie Benign familial epilepsy of childhood with rolandic spikes Benigne kindliche Epilepsie mit zentrotemporalen Spikes Epilepsia benigna da infância com picos rolândicos Epilepsia familiar benigna de la infancia con puntas rolándicas Epilepsie familiale bénigne de l'enfant à pointes rolandiques Epilessia familiare benigna dell'infanzia con punte rolandiche hrdo:pat_id_3327 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 182410 D018860 10053841 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=sneddon+syndrome%5Bmajr%5D I77.8 820 238776001 C0282492 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Ehrmann-Sneddon syndrome Livedo racemosa and cerebrovascular accidents Livedo racemosa et accidents vasculaires cérébraux Livedo reticularis and cerebrovascular accidents Livedo reticularis et accidents vasculaires cérébraux Livédo ramifié et accidents vasculaires cérébraux Livédo réticulaire et accidents vasculaires cérébraux Sneddon-Syndrom Syndrome d'Ehrmann-Sneddon Sindrome di Sneddon Sneddon syndrome Sneddon-Sequenz Syndrome de Sneddon Síndrome de Sneddon Síndrome de Sneddon hrdo:pat_id_3331 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 202400 D68.2 335 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Afibrinogenemia familiar Afibrinogenämie, familiäre Disfibrinogenemia familiar Hipofibrinogenemia familiar Hypofibrinogenämie, familiäre Congenital fibrinogen deficiency Deficit congenito di fibrinogeno Deficiência congénita de fibrinogénio Déficit congénital en fibrinogène Déficit congénito de fibrinógeno Fibrinogen-Mangel, kongenitaler hrdo:pat_id_3332 Variabel Variabile Variable Variable Variable Variable Variável D017129 10002533 B81.0 1070 442035006 442652006 C0162576 C2711591 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Heringswurm-Krankheit Anisachiasi Anisakiasis Anisakiasis Anisakiasis Anisakiose Anisaquiose hrdo:pat_id_3333 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D055952 10056667 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Cogan+syndrome%5Btw%5D+OR+cogan%27s+syndrome%5Btw%5D H16.3 1467 405810005 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cogan syndrome Cogan-Syndrom Sindrome di Cogan Syndrome de Cogan Síndrome de Cogan Síndrome de Cogan hrdo:pat_id_3335 262850 neant D68.8 79 disease Alpha-2 Antiplasmin-Mangel, kongenitaler Congenital alpha2 antiplasmin deficiency Deficit congenito di alfa-2-antiplasmina Deficiência congénita de anti-plasmina Déficit congénital en alpha2-antiplasmine Déficit congénito de alfa2-antiplasmina hrdo:pat_id_3336 Variabel Variabile Variable Variable Variable Variable Variável 613225 613235 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%28factor+xiii%5Bti%5D+AND+deficiency%5Bti%5D%29+NOT+Medline%5BSB%5D%29+OR+%22factor+xiii+deficiency%22%5Bmh%5D D68.2 331 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficit del fattore stabilizzante la fibrina Déficit en facteur stabilisant de la fibrine Fibrin-stabilizing factor deficiency Fibrinstabilisierender Faktor-Mangel Congenital factor XIII deficiency Deficit congenito del fattore XIII Deficiência congénita de fator XIII Déficit congénital en facteur XIII Déficit congénito del factor XIII Faktor XIII-Mangel, kongenitaler hrdo:pat_id_3338 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 172700 600274 600795 607485 D057180 10068968 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Frontotemporal%5Bti%5D+dementia G31.0 282 230270009 C0338451 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 DFT DFT FTD FTD FTD FTD Demencia frontotemporal Demenza frontotemporale Demência fronto-temporal Démence fronto-temporale Frontotemporal dementia Frontotemporale Demenz hrdo:pat_id_334 154230 158170 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=((chromosome+9%5Bmh%5D+(chromosome+deletion+OR+monosomy%5Bmh%5D))+OR+(del%5Bti%5D+OR+deletion*%5Bti%5D+OR+loss%5Bti%5D+OR+monosomy%5Bti%5D))+9p%5Bti%5D Q93.5 1642 malformation syndrome Deleción 9p Delezione 9p distale Delezione 9p telomerica Distal deletion 9p Délétion distale 9p Délétion télomérique 9p Monosomia 9pter Monosomie 9p Monosomie 9pter Monosomy 9pter Monossomia 9p Telomeric deletion 9p Deletion 9p Deleção 9p Distal monosomy 9p Monosomia 9p distale Monosomie distale 9p Monosomía distal 9p hrdo:pat_id_3340 10051708 neant C84 542 28054005 400001003 419392005 C1276146 C1302772 group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Linfoma cutaneo primitivo Linfoma cutáneo primario Linfoma cutâneo Lymphom, kutanes primäres Lymphome cutané primitif Primary cutaneous lymphoma hrdo:pat_id_3341 Variabel Variabile Variable Variable Variable Variable Variável D010930 D015009 10035148 10061416 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=plague%5Bmajr%5D A20 707 58750007 83436008 C0032064 C0043407 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Yersiniose Yersiniose Yersiniose Yersiniosi Yersiniosis Yersiniosis Pest Peste Peste Peste Peste Plague hrdo:pat_id_3343 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 212138 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Carnitine+acylcarnitine+translocase%5Bti%5D+deficiency+OR+Carnitine+Acyltransferases/df%5Bmh%3Anoexp%5D E71.3 159 238003000 C0342791 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Carnitin-Acylcarnitin-Translokase-Mangel Carnitine-acylcarnitine translocase deficiency Deficit di carnitina-acilcarnitina traslocasi Deficiência de carnitina-acilcarnitina translocase Déficit de carnitina-acilcarnitina translocasa Déficit en carnitine-acylcarnitine translocase hrdo:pat_id_3349 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 258870 C537132 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=ornithine-oxo-acid+transaminase/df%5Bmajr%5D E72.4 414 276426004 33985005 C0599035 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Atrofia girata da coróide e retina Atrophie gyrée de la rétine Deficiencia de ornitín aminotransferasa Deficit di ornitina aminotransferasi Deficiência de ornitina aminotransferase Déficit de ornitín aminotransferasa Déficit en ornithine amino-transférase HOGA HOGA HOGA HOGA Hiperornitinemia Hiperornitinemia - atrofia girada de la coroides y la retina Hyperornithinemia Hyperornithinemia - gyrate atrophy of choroid and retina Hyperornithinämie Hyperornithinämie - Atrophia gyrata der Aderhaut und Netzhaut Hyperornithinémie Iperornitinemia Iperornitinemia - atrofia girata della coroide e della retina Ornithin-Aminotransferase-Mangel Ornithine aminotransferase deficiency Ornitina aminotransferase, deficiência de Atrofia girada de la coroides y la retina Atrofia girata della coroide e della retina Atrophia gyrata der Chorioidea und Retina Atrophie gyrée chorio-rétinienne Gyrate atrophy of choroid and retina Hiperornitinemia hrdo:pat_id_335 Variabel Variabile Variable Variable Variable Variable Variável C535317 D014997 10056894 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=47+XYY+syndrome+OR+(47+XYY%5Bti%5D) Q98.5 8 50749006 C0043379 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Disomie Y Disomy Y Doppio Y Double y Double y Duplo Y XYY-Syndrom Y-Chromosom, doppeltes 47,XYY syndrome 47,XYY-Syndrom Sindrome 47,XYY Syndrome 47,XYY Síndrome 47 XYY Síndrome 47,XYY hrdo:pat_id_3351 Variabel Variabile Variable Variable Variable Variable Variável 250940 neant E72.1 2170 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficiencia de metil cobalamina de tipo cbl G Deficiencia funcional de metionina sintasa tipo cblG Deficit funzionale di metionina sintasi, tipo cblG Déficit fonctionnel en méthionine synthase type cblG Déficit funcional de metionina sintasa tipo cblG Functional methionine synthase deficiency type cblG Homocistinúria por defeito na metilação, tipo cbl G Homocystinurie durch Methionin-Synthase-Mangel, Typ cbl G Deficit di metilcobalamina, tipo cblG Deficiência de metilcobalamina tipo cbl G Déficit de metil cobalamina de tipo cbl G Déficit en méthyl-cobalamine type cblG Methylcobalamin deficiency type cblG Methylcobalamin-Mangel Typ cbl G hrdo:pat_id_3353 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 238700 238710 D020167 neant E72.3 2203 58558003 C0268553 C0936256 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficiencia de lisina alfa-cetoglutarato reductasa Deficit di lisina alfa-chetoglutarato reduttasi Deficiência de lisina alfa-cetoglutarato redutase Déficit de lisina alfa-cetoglutarato reductasa Déficit en lysine alpha-cétoglutarate réductase Hiperlisinemia tipo I Hyperlysinemia type I Hyperlysinämie Typ I Hyperlysinémie type I Iperlisinemia, tipo I Lisina alfa-cetoglutarato redutase, deficiência de Lysin-alpha-Ketoglutarat-Reduktase-Mangel Lysine alpha-ketoglutarate reductase deficiency Hiperlisinemia Hiperlisinemia Hyperlysinemia Hyperlysinämie Hyperlysinémie Iperlisinemia hrdo:pat_id_3354 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 268700 C537218 neant E72.3 3124 111397004 C0268556 C2936921 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficiencia de sacaropina deshidrogenasa Deficit di saccaropina deidrogenasi Deficiência de sacaropina desidrogenase Déficit de sacaropina deshidrogenasa Déficit en saccharopine déshydrogénase Hiperlisinemia tipo II Hyperlysinemia type II Hyperlysinämie Typ II Hyperlysinémie type II Iperlisinemia, tipo II Sacaropina desidrogenase, deficiência de Saccharopin-Dehydrogenase-Mangel Saccharopine dehydrogenase deficiency Sacaropinuria Sacaropinúria Saccaropinuria Saccharopinuria Saccharopinurie Saccharopinurie hrdo:pat_id_3355 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 235800 C538320 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Histidinemia%5Bti%5D+OR+Histidine+Ammonia+Lyase+deficiency%29+humans E70.8 2157 124628005 410058007 C0220992 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Deficit di istidasi Deficiência de histidinase Déficit de histidasa Déficit en histidase Histidase deficiency Histidase-Mangel Histidinase, deficiência de Histidinuria Histidinurie Histidinemia Histidinemia Histidinemia Histidinämie Histidinémie Istidinemia hrdo:pat_id_3356 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 222730 C536171 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=dicarboxylic+aminoaciduria E72.0 2195 C1857253 disease Defecto de transporte de glutamato-aspartato Defeito no transporte de glutamato-aspartato Défaut de transport du glutamate-aspartate Errore nel trasporto di glutammato-aspartato Glutamat-Aspartat-Transportdefekt Glutamate-aspartate transport defect Glutamato-aspartato, defeito no transporte Aminoacidúria dicarboxílica Dicarboxyl-Hyperaminoazidurie Dicarboxylic aminoaciduria Hiperaminoacidúria dicarboxílica Hyperaminoacidurie dicarboxylique Iperaminoaciduria dicarbossilica hrdo:pat_id_3357 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 236130 C535328 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Homocarnosinosis E72.8 2168 274616003 61764000 C0268632 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficit di omocarnosinasi Deficiência de homocarnosinase Déficit de homocarnosinasa Déficit en homocarnosinase Homocarnosinase deficiency Homocarnosinase, deficiência de Homocarnosinase-Mangel Homocarnosinose Homocarnosinose Homocarnosinose Homocarnosinosis Homocarnosinosis Omocarnosinasi hrdo:pat_id_3358 193090 2967 disease Deficit della proteina R Deficiência de proteína R Déficit de proteina R Déficit en protéine R Protein R deficiency Protein-R-Mangel hrdo:pat_id_3359 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 243320 261000 10070440 neant D51.0 332 234361004 C0340957 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anemia megaloblastica giovanile ereditaria da deficit del fattore intrinseco Anemia megaloblástica hereditaria juvenil por déficit de factor intrínseco Anemia perniciosa congenita Anemia perniciosa congénita Anämie, juvenile megaloblastische, durch Intrinsic-Faktor-Mangel Anämie, perzinöse, kongenitale Anémie héréditaire juvénile mégaloblastique due à une carence en facteur intrinsèque Anémie pernicieuse congénitale Congenital pernicious anemia DFI Deficit del fattore intrinseco Deficit gastrico del fattore intrinseco Déficit de factor intrínseco Déficit de factor intrínseco gástrico Déficit en facteur intrinsèque Déficit en facteur intrinsèque gastrique Gastric intrinsic factor deficiency Hereditary juvenile meganoblastic anemia due to intrinsic factor deficiency IFD IFD IFD IFD Intrinsic factor deficiency Intrinsic-Faktor-Mangel Congenital intrinsic factor deficiency Deficit congenito del fattore intrinseco Deficiência congénita de fator intrínseco Déficit congénital en facteur intrinsèque Déficit congénito de factor intrínseco Intrinsic-Faktor-Mangel, kongenitaler hrdo:pat_id_3360 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Variabel Variabile Variable Variable Variable Variable Variável 220120 C535767 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=D-glyceric-acidemia+OR+D-glyceric-acidaemia+OR+%28Hyperglycericacidaemia+hyperglycinaemia%29+OR+D-glycerate+kinase+deficiency 941 C1291386 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown D-Glycerat-Kinase-Mangel   D-glicerato cinase, deficiência de D-glycerate kinase deficiency Deficit di D-glicerato chinasi Deficiência de D-glicerato cinase Déficit en D-glycérate kinase Aciduria D-glicerica Aciduria D-glicérica Acidurie D-glycérique Acidémia D-glicérica D-Glycerinsäure-Krankheit D-glyceric acidemia hrdo:pat_id_3362 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 236792 600721 613657 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=alpha-hydroxyglutarate%5Bnm%5D+AND+aciduria%5Btw%5D E72.8 19 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown 2-Hydroxyglutarazidämie 2-hydroxyglutaric acidemia Acidemia 2-hidroxiglutárica Acidemia 2-idrossiglutarica Acidémie 2-hydroxyglutarique 2-Hydroxyglutarazidurie 2-hydroxyglutaric aciduria Aciduria 2-hidroxiglutárica Aciduria 2-idrossiglutarica Acidurie 2-hydroxyglutarique Acidúria 2-hidroxiglutárica hrdo:pat_id_3363 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 260800 C536652 10064170 neant E74.8 2843 190764000 55824003 C0268162 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficit di xilitolo deidrogenasi Deficiência de xilitol desidrogenase Déficit en Xylitol déshydrogénase Essential pentosuria Pentosuria essenziale Pentosuria, esencial Pentosurie, essentielle Xilitol desidrogenase, deficiência de Xylitol dehydrogenase deficiency Xylitol-Dehydrogenase-Mangel Pentosuria Pentosuria Pentosuria Pentosurie Pentosurie Pentosúria hrdo:pat_id_3365 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 219500 C535408 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Cystathioninuria%5Bti%5D+OR+((Cystathionine%2Furine+OR+Cystathionine+gamma-Lyase)+Amino+Acid+Metabolism,+Inborn+Errors) E72.1 212 13003007 367036006 6885006 C0220993 C0268616 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Cystathionase deficiency Cystathionase-Mangel Cystathione gamma - lyase deficiency Cystathionin-gamma-Lyase-Mangel Deficiencia de cistationasa Deficiencia de cistationina gamma-liasa Deficiencia de gamma-cistationasa Deficit di cistationasi Deficit di cistationina gamma-liasi Deficit di gamma-cistationasi Deficiência de gama-cistationase Déficit de cistationasa Déficit de cistationina gamma-liasa Déficit de gamma-cistationasa Déficit en cystathionase Déficit en cystathionine gamma-lyase Déficit en gamma-cystathionase Gama-cistationase, deficiência de Gamma-Cystathionase-Mangel Gamma-cystathionase deficiency Cistationinuria Cistationinuria Cistationinúria Cystathioninuria Cystathioninurie Cystathioninurie hrdo:pat_id_3366 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 222700 10058300 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=lysine%5Bmajr%5D+AND+%22lysinuric+protein+intolerance%22%5Btw%5D E72.0 470 303852004 C0268647 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Aminoaciduria bibasica, tipo 2 Aminoacidurie hyperdibasique type 2 Aminoacidúria dibásica tipo 2 Aminoazidurie, hyperdibasische, Typ 2 Hiperaminoaciduria dibásica tipo 2 Hyperdibasic aminoaciduria type 2 IPL LPI LPI Intolerância às proteínas com lisinúria Intolleranza alle proteine con lisinuria Intolérance aux protéines dibasiques avec lysinurie Lisinuria con intolerancia a proteínas Lysinuric protein intolerance Lysinurische Proteinintoleranz (LPI) hrdo:pat_id_3367 222690 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Hyperdibasicaminoaciduria E72.0 1032 disease Aminoaciduria bibasica, tipo 1 Aminoaciduria hiperdibásica tipo 1 Aminoacidurie hyperdibasique type 1 Aminoacidúria dibásica tipo 1 Aminoazidurie, hyperdibasische, Typ 1 Hyperdibasic aminoaciduria type 1 hrdo:pat_id_3369 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Variabel Variabile Variable Variable Variable Variable Variável 236270 250940 277410 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=5-methyltetrahydrofolate-homocysteine+s-methyltransferase/df%5Bmajr%5D E72.1 622 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficiencia de metilcobalamina Deficiencia funcional de metionina sintasa Deficit di metilcobalamina Deficit funzionale di metionina sintasi Deficiência de metionina sintetase Déficit de metilcobalamina Déficit en méthylcobalamine Déficit fonctionnel en méthionine synthase Déficit funcional de metionina sintasa Functional methionine synthase deficiency Homocystinurie ohne Methylmalonazidämie Methioninsynthase-Mangel, funktioneller Methylcobalamin deficiency Methylcobalamin-Mangel Metionina sintetase, deficiência de Deficiência de N5-metilomocisteína transferase Homocistinuria sin aciduria metilmalónica Homocystinuria without methylmalonic aciduria Homocystinurie ohne Methylmalonazidurie Homocystinurie sans acidurie méthylmalonique Omocistinuria senza aciduria metilmalonica hrdo:pat_id_337 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 10044686 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Trisomy+13%5Bti%5D+OR+%28Chromosomes%2C+Human%2C+Pair+13%5Bmh%5D+AND+trisomy%5Bmh%5D%29 Q91.4 Q91.5 Q91.6 Q91.7 3378 C2936830 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Duplicação 13 Duplikation 13 Patau syndrome Patau, síndrome de Pätau-Syndrom Sindrome di Patau Syndrome de Patau Síndrome de Patau Síndrome de Patau Trisomia 13 Trisomie 13 Trisomie 13 Trisomy 13 Trisomía 13 Trissomia 13 hrdo:pat_id_3370 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 237310 neant E72.2 927 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Déficiet en NAGS NAGS deficiency Deficit di N-acetilglutamatosintasi Deficiência de N-acetilglutamato sintetase Hiperamoniaquemia por déficit de N-Acetilglutamato sintasa Hyperammonemia due to N-acetylglutamate synthetase deficiency Hyperammoniémie due à un déficit en N-Acétylglutamate synthase N-Acetylglutamat-Synthetase-Mangel hrdo:pat_id_3372 neant E70.2 3402 disease Tirosinemia transitoria del neonato Transient tyrosinemia of the neonate Deficit transitorio di tirosina-ossidasi Deficiência transitória de tirosina oxidase Tirosinemia transitoria del recién nacido Transient tyrosinemia of the newborn Tyrosinoxidase-Mangel, temporärer Tyrosinémie transitoire du nouveau-né hrdo:pat_id_3373 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 239400 D018901 neant E72.3 34 13306007 88469006 C0268537 C0282526 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hiperpipecolemia Hiperpipecolemia Hyperpipecolatemia Hyperpipecolatämie Hyperpipécolatémie Iperpipecolatemia Acidemia pipecolica Acidemia pipecólica Acidemia pipecólica Acidémie pipécolique Pipecolic acidemia Pipecolin-Azidämie hrdo:pat_id_3374 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 261650 261680 C536654 neant E74.4 2880 5335002 C0268194 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Herencia mitocondrial Hérédité mitochondriale Mitochondrial inheritance Mitochondrial inheritance Mitochondriale Vererbung Modo de hereditariedade mitocondrial Trasmissione mitocondriale disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficit di PEPCK Déficit de PEPCK Déficit en PEPCK PEPCK deficiency PEPCK-Mangel Deficit di fosfoenolpiruvato carbossichinasi Deficiência de fosfoenolpiruvato carboxicinase (PEPCK) Déficit de fosfoenolpiruvato carboxiquinasa Déficit en phosphoénolpyruvate carboxykinase Phosphoenolpyruvat-Carboxykinase-Mangel Phosphoenolpyruvate carboxykinase deficiency hrdo:pat_id_3376 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 606812 C538191 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=fumarate+hydratase/df%5Bmajr%5D E88.8 24 124616002 237983002 C0342770 C2936826 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficit di fumarasi Deficiência de fumarase Déficit en fumarase Fumarase deficiency Fumarase, deficiência de Fumarase-Mangel Aciduria fumarica Aciduria fumárica Acidurie fumarique Acidúria fumárica Fumarazidurie Fumaric aciduria hrdo:pat_id_3377 252011 G71.3 3208 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Complexo 2 da cadeia respiratória mitocondrial, deficiência de Deficit isolato del complesso II della catena respiratoria mitocondriale Deficit isolato di succinato-coenzima Q reduttasi Deficit isolato di succinato-ubichinone reduttasi Deficiência de complexo 2 da cadeia respiratória mitocondrial Déficit aislado de succinato-coenzima Q reductasa Déficit aislado de succinato-ubiquinona reductasa Déficit aislado del complejo 2 de la cadena respiratoria mitocondrial Déficit aislado del complejo II de la cadena respiratoria mitocondrial Déficit isolé en complexe II de la chaîne respiratoire mitochondriale Déficit isolé en succinate-coenzyme Q réductase Déficit isolé en succinate-ubiquinone réductase Isolated mitochondrial respiratory chain complex II deficiency Isolated succinate-coenzyme Q reductase deficiency Isolated succinate-ubiquinone reductase deficiency Mitochondriale Atmungskette, isolierter Defekt im Komplex 2 Succinat-Ubiquinon-Reduktase-Mangel, isolierter Deficit isolato di succinato-CoQ reduttasi Deficiência de succinato-CoQ redutase Déficit aislado de succinato-CoQ reductasa Déficit isolé en succinate-CoQ réductase Isolated succinate-CoQ reductase deficiency Succinat-Coenzym-Q-Reduktase-Mangel, isolierter hrdo:pat_id_3378 124000 615157 615158 615159 615160 neant G71.3 1460 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Herencia mitocondrial Hérédité mitochondriale Mitochondrial inheritance Mitochondrial inheritance Mitochondriale Vererbung Modo de hereditariedade mitocondrial Trasmissione mitocondriale disease Coenzym-Q-Cytochrom-C-Reduktase-Mangel, isolierter Complexo 3 da cadeia respiratória mitocondrial, deficiência de Deficit isolato del complesso III della catena respiratoria mitocondriale Deficit isolato di coenzima Q-citocromo C reduttasi Deficit isolato di ubichinone-citocromo C reduttasi Deficiência de complexo 3 da cadeia respiratória mitocondrial Déficit aislado de coenzima Q-citocromo C reductasa Déficit aislado de ubiquinona-citocromo C reductasa Déficit aislado del complejo 3 de la cadena respiratoria mitocondrial Déficit aislado del complejo III de la cadena respiratoria mitocondrial Déficit isolé en coenzyme Q-cytochrome C oxydoréductase Déficit isolé en complexe III de la chaîne respiratoire mitochondriale Déficit isolé en ubiqinone-cytochrome C oxydoréductase Isolated coenzyme Q-cytochrome C reductase deficiency Isolated mitochondrial respiratory chain complex III deficiency Isolated ubiquinone-cytochrome C reductase deficiency Mitochondriale Atmungskette, isolierter Defekt im Komplex 3 Ubiquinon-Cytochrom-C-Reduktase-Mangel, isolierter Coenzym Q : Cytochrom-c-Oxidoreduktase-Mangel, isolierter Deficit isolato di CoQ-citocromo C reduttasi Deficiência de coenzima Q-citocromo c redutase Déficit aislado de CoQ-citocromo C reductasa Déficit isolé en CoQ-cytochrome C oxydoréductase Isolated CoQ-cytochrome C reductase deficiency hrdo:pat_id_3379 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 604377 615119 neant G71.3 1561 disease COX, infantil fatal, deficiência de COX-Mangel, infantiler fataler Cardio-encéfalo-miopatia fatal por deficiência de citocromo c oxidase Cardio-encéphalo-myopathie fatale infantile par déficit en cytochrome oxydase C Cardioencefalomiopatia fatale infantile da deficit di citocromo C ossidasi Deficit del complesso 4 della catena respiratoria mitocondriale Deficit infantile fatale di COX Deficiência de COX, infantil fatal Déficit en COX fatal infantile Fatal infantile COX deficiency Fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency Mitochondriale Kardioenzephalomyopathie, fatale infantile Cytochrom-C-Oxidase-Mangel, infantile fatale Form Deficit infantile fatale di citocromo C ossidasi Deficiência de citocromo c oxidase, infantil fatal Déficit de Citocromo c oxidasa Déficit en cytochrome C oxydase fatale infantile Fatal infantile cytochrome C oxidase deficiency hrdo:pat_id_338 C538036 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=(Trisomy+15q%5Bti%5D+OR+duplication+15q*%5Bti%5D+OR+((%22chromosome+15%22+OR+Pair+15%5Btw%5D)+%2215q%22+trisomy))+NOT+(mosaicism+OR+monosomy+15q*%5Bti%5D) Q92.3 1707 C2931705 malformation syndrome Distal duplication 15q Duplicación distal 15q Duplicación telomérica 15q Duplication distale 15q Duplication télomérique 15q Duplicazione 15q distale Duplicazione 15q telomerica Telomeric duplication 15q Trisomia 15qter Trisomie 15q Trisomie 15qter Trisomy 15qter Trisomía 15qter Trissomia 15q Distal trisomy 15q Duplicação 15q Duplikation 15q Trisomia 15q distale Trisomie distale 15q Trisomía distal 15q hrdo:pat_id_3380 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis 102800 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Adenosine-triphosphatase+deficiency%5Btw%5D+AND+%28anaemia+OR+anemia%29 D55.3 1044 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Anemia da deficit di adenosina trifosfatasi Anemia due to adenosine triphosphatase deficiency Anemia por deficiência de adenosina trifosfatase Anemia por déficit de adenosina trifosfatasa Anämie durch Adenosintriphosphatase-Mangel Anémie par déficit en adénosine triphosphatase hrdo:pat_id_3381 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 188025 C538617 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=thrombocytopenia%5Bmh%5D+AND+paris-trousseau%5Btw%5D D69.4 851 C1861178 C1956093 disease Paris-Trousseau thrombocytopenia Paris-Trousseau-Syndrom Thrombocytopénie type Paris-Trousseau Trombocitopenia di Paris-Trousseau Trombopenia Paris-Trousseau Trombopenia de Paris-Trousseau hrdo:pat_id_3382 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 187800 273800 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Glanzmann+thrombasthenia D69.1 849 32942005 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Glanzmann thrombasthenia Thrombasthenie Glanzmann Thrombasthénie de Glanzmann Trombastenia de Glanzmann Trombastenia de Glanzmann Trombastenia di Glanzmann hrdo:pat_id_3383 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 176860 612304 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=protein+c+deficiency%5Bmajr%5D D68.2 745 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Deficit congenito della proteina C Deficiência de proteína C Déficit congénito de proteína C Hereditary thrombophilia due to congenital protein C deficiency Protein-C-Mangel, kongenitaler Thrombophilie héréditaire due au déficit congénital en protéine C hrdo:pat_id_3384 Variabel Variabile Variable Variable Variable Variable Variável 114480 600048 604370 605365 612555 613399 614291 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=breast+neoplasm%5Bmajr:noexp%5D+AND+%28familial%5Btw%5D+OR+congenital%5Btw%5D+OR+hereditary+diseases%5Bmh%5D%29 C50 C56 145 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Cancro da mama e ovário Brust- und Ovarialkrebssyndrom, hereditäres Cancro da mama familiar Hereditary breast and ovarian cancer syndrome Sindrome del cancro ereditario della mammella e dell'ovaio Syndrome héréditaire de prédisposition au cancer du sein et de l'ovaire Síndrome de cáncer de mama y ovario hereditario hrdo:pat_id_3386 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 606690 D018192 10049459 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Lymphangioleiomyomatosis%5Bti%5D+OR+Lymphangioleiomyomatosis%5Bmh%5D J98.4 538 73017001 C0751674 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 LAM LAM LAM LAM LAM Linfangioleiomiomatose Linfangioleiomiomatosi Linfangioleiomiomatosis Lymphangioleiomyomatose Lymphangioleiomyomatosis Lymphangioléiomyomatose hrdo:pat_id_3387 600634 D015175 10036832 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=prolactinoma%5Bmh%5D+OR+prolactinoma*%5Bti%5D+NOT+animals D35.2 E22.1 2965 134209002 34337008 C0033375 disease Adenoma ipofisario lattotropo Adenoma lactotrofo Adenoma lactotrófico hipofisario Adenoma lattotropo Adénome hypophysaire à PRL Adénome hypophysaire à prolactine Adénome lactotrope Adénome lactotrope hypophysaire Lactotroph adenoma PRL-secreting pituitary adenoma Pituitary lactotrophic adenoma Prolactin-secreting pituitary adenoma Prolactinoma Prolactinoma Prolactinoma familiar Prolactinome Prolaktinom Prolattinoma hrdo:pat_id_3388 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Post+poliomyelit*%5Bti%5D+syndrome+OR+Postpoliomyelitis+Syndrome G14 2942 disease Post-Polio-Syndrom Post-polio sequelae Post-polio syndrome Post-poliomyelitis sequelae Post-poliomyelitis syndrome Secuela post-polio Secuela post-poliomielitis Sequele post-polio Sequele post-poliomielite Sindrome post-polimielite Sindrome post-polio Syndrome post-polio Síndrome post-polio Síndrome post-poliomielitis Post-Poliomyelitis-Syndrom Post-poliomyelitic syndrome Sindrome post-poliomielitica Syndrome post-poliomyélitique Síndrome post-poliomielítico Síndrome pós-poliomielite hrdo:pat_id_339 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 10053884 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Trisomy+18%5Bti%5D+OR+%28Chromosomes%2C+Human%2C+Pair+18%5Bmh%5D+AND+trisomy%5Bmh%5D%29 Q91.0 Q91.1 Q91.2 Q91.3 3380 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Chromosom18-Duplikation Chromosome 18 duplication Duplicación del cromosoma 18 Duplication du chromosome 18 Duplicazione del cromosoma 18 Duplicação 18 Edwards syndrome Edwards-Syndrom Sindrome di Edwards Syndrome d'Edwards Síndrome de Edwards Trisomia 18 Trisomie 18 Trisomie 18 Trisomy 18 Trisomía 18 Trissomia 18 hrdo:pat_id_3391 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 264070 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=pterin-4a-carbinolamine+dehydratase%5Ball%5D+AND+%28deficiency%5Bsh%5D+OR+deficiency%5Btw%5D%29+OR+primapterinuria%5Btw%5D E70.1 1578 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hiperfenilalaninemia por deficiência de desidratase Hiperfenilalaninemia por deficiência de pterina-4-alfa-carbinolamina desidratase Hyperphenylalaninemia due to dehydratase deficiency Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency Hyperphenylalaninämie mit Tetrahydrobiopterin-Mangel, D Hyperphénylalaninémie par déficit en 4a-hydroxy-tétra-hydrobioptérine déshydratase Hyperphénylalaninémie par déficit en déshydratase Iperfenilalaninemia da deficit di deidratasi Iperfenilalaninemia da deficit di pterina-4-alfa-carbinolamina deidratasi PCD-Mangel Deficit di deidratasi Deficiência de desidratase Dehydratase deficiency Déficit de deshidratasa Déficit en déhydratase Pterin-4-alpha-Carbinolamin-Dehydratase-Mangel hrdo:pat_id_3392 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=malacoplakia%5Bmajr%5D 556 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Malacoplaquia Malacoplachia Malacoplaquia Malacoplasia Malakoplakia Malakoplakie Malakoplasie hrdo:pat_id_3393 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=chronic%5Bti%5D+recurren*%5Bti%5D+osteomyelitis+OR+(chronic+recurrent+multifocal+osteomyelitis%5Btw%5D) M86.3 2778 clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CRMO giovanile CRMO juvenil CRMO juvénile CRMO, juvenil CRMO, juvenile Juvenile CRMO OMCR juvénile Juvenile chronic recurrent multifocal osteomyelitis Osteomielite multifocal crónica recorrente juvenil Osteomielite multifocale ricorrente cronica, forma giovanile Osteomielitis multifocal crónica recurrente juvenil Osteomyelitis, chronische multifokale rezidivierende, juvenile Form Ostéomyélite multifocale chronique récurrente juvénile hrdo:pat_id_3394 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter D009625 10029502 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Noma%5Bti%5D+OR+noma%5Bmajr%5D A69.0 2700 18116006 C0028271 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cancrum oris Stomatite nécrosante NOMA Noma Noma Noma Noma Noma hrdo:pat_id_3395 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 607115 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=((cinca+OR+nomid+OR+IOMID)+syndrome)+OR+((neonatal+OR+infantile)+onset+multisystem+inflammatory+disease%5Btw%5D) G03.1 G44.8 L50.8 M08.9 1451 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Chronic infantile neurological cutaneous articular syndrome Chronisch-infantiles-neurologisch-kutanes-artikuläres Syndrom Enfermedad inflamatoria multisistémica infantil Enfermedad inflamatoria multisistémica neonatal IOMID syndrome IOMID-Syndrom Infantile Onset Multisystem Inflammatory Disease Maladie inflammatoire multisystémique de l'enfant Maladie inflammatoire multisystémique néonatale Malattia infiammatoria multisistemica a esordio neonatale Malattia infiammatoria multisistemica infantile Multisystemkrankheit, inflammatorische, infantil beginnende Multisystemkrankheit, inflammatorische, neonatal beginnende NOMID syndrome NOMID-Syndrom Neonatal Onset Multisystem Inflammatory Disease Neuro-cutaneo-articular crónico do lactente, síndrome Prieur-Griscelli syndrome Prieur-Griscelli-Syndrom Sindrome IOMID Sindrome NOMID Sindrome di Prieur-Griscelli Sindrome infantile cronica articolare, cutanea e neurologica Syndrome Chronique-Infantile-Neurologique-Cutané-Articulaire Syndrome de Prieur-Griscelli Síndrome Crónico - Infantil - Neurológico - Cutáneo - Articular Síndrome IOMID Síndrome NOMID Síndrome de Prieur-Griscelli Síndrome neuro-cutaneo-articular crónico do lactente CINCA syndrome CINCA-Syndrom Sindrome CINCA Syndrome CINCA Síndrome CINCA Síndrome CINCA hrdo:pat_id_3399 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 141000 10058423 neant D18.0 2330 86635005 C0221025 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hemangioma - trombocitopenia, síndrome de Hemangioma-thrombocytopenia syndrome Hämangiom-Throbozytopenie-Syndrom Hémangiome - thrombocytopénie Sindrome emangioma-trombocitopenia Síndrome de hemangioma - trombocitopenia Síndrome de hemangioma - tromboctopenia Kasabach-Merritt syndrome Kasabach-Merritt-Syndrom Sindrome di Kasabach-Merritt Syndrome de Kasabach-Merritt Síndrome de Kasabach-Merritt Síndrome de Kasabach-Merritt hrdo:pat_id_34 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 191390 266600 601458 604519 605225 606348 606668 606674 606675 608448 611081 612241 612244 612245 612255 612259 612261 612262 612278 612288 612354 612380 612381 612566 612639 612796 D003093 10009900 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22colitis%2C+ulcerative%22%5Bmajr%5D+OR+Ulcerative+colitis%5BTi%5D K51 771 64766004 C0009324 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 CU Proctite ulcerosa Proctite ulcéreuse Proctitis ulcerosa Proctosigmoidite ulcerosa Proctosigmoiditis ulcerosa Proctosigmoïdite ulcéreuse Proktitis, chronische ulzeröse Rektosigmoiditis, ulzeröse UC UC UC UC Ulcerative proctitis Ulcerative proctosigmoiditis Colite ulcerosa Colite ulcerosa Colitis ulcerosa Colitis ulcerosa (UC) Recto-colite hémorragique Ulcerative colitis hrdo:pat_id_340 C538307 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=(Trisomy+18p%5Bti%5D+OR+duplication+18p%5Bti%5D+OR+((%22chromosome+18%22+OR+Pair+18%5Btw%5D)+18p*%5Btw%5D+trisomy))+NOT+(mosaicism+OR+monosomy+18p*%5Bti%5D) Q92.2 1715 C2931811 malformation syndrome Duplication 18p Duplication 18p Duplicazione 18p Short arm of chromosome 18 duplication Short arm of chromosome 18 trisomy Trisomia del braccio corto del cromosoma 18 Trisomie 18p Trisomie du bras court du chromosome 18p Trisomía 18p Trissomia 18p Duplicación 18p Duplicação 18p Duplikation 18p Trisomia 18p Trisomie 18p Trisomy 18p hrdo:pat_id_3400 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 254400 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Mycosis+fungoides%5Bti%5D+OR+Mycosis+fungoides%5Bmh%5D C84.0 2584 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Linfoma cutâneo de células T Mycosis fongoïde type Alibert-Bazin Mycosis fungoides, Alibert-Bazin type Classical mycosis fungoides Micosi fungoide classica Micosis fungoide Mycosis fongoïde classique Mycosis fungoides Mycosis fungoides hrdo:pat_id_3401 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D012751 10040493 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=sezary+syndrome%5Bti%5D+OR+sezary+syndrome%5Bmajr%5D+OR+Sezary%27s+syndrome%5Bti%5D C84.1 3162 118611004 4950009 C0036920 disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Linfoma de Sezary Linfoma de Sezary Linfoma di Sezary Lymphome de Sézary Sezary lymphoma Sézary-Lymphom Sezary syndrome Sindrome di Sezary Syndrome de Sézary Sézary-Syndrom Síndrome de Sezary Síndrome de Sezary hrdo:pat_id_3402 Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28enterovirus+infections%5Bmajr%5D+OR+enterovirus%5Bmajr%5D%29+AND+%28fetal+diseases%5Bmajr%5D+OR+fetus%5Bmajr%5D%29 P35.8 292 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Enterovirus antenatal infection Enterovirus-Infektion, pränatale Infección prenatal por enterovirus Infection anténatale aux entérovirus Infecção pré-natal por Enterovírus Infezione prenatale da enterovirus Infeção pré-natal por Enterovírus Congenital enterovirus infection Enterovirus-Infektion, kongenitale Infección congénita por enterovirus Infection congénitale à entérovirus Infezione congenita da enterovirus Infeção congénita por Enterovírus hrdo:pat_id_3403 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável D010488 10036024 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22polyarteritis+nodosa%22%5BMajr%5D+OR+Polyarteritis+nodosa%5Bti%5D M30.0 767 155441006 C0031036 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Küssmaul-Maier disease Küssmaul-Maier-Krankheit Maladie de Küssmaul-Maier Malattia di Küssmaul-Maier Periarteritis nodosa Periarteritis nodosa Periartrite nodosa Polyartérite noueuse Periarteritis nodosa Poliarterite nodosa Poliarterite nodosa Polyarteritis nodosa Polyarteritis nodosa Périartérite noueuse hrdo:pat_id_3404 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 605808 C537630 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%22chorioretinitis%22%5BMeSH+Terms%5D+OR+Chorioretinitis%5BText+Word%5D%29+AND+birdshot%5BAll+Fields%5D H30.1 179 C1853959 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Chorioretinopathie Typ Birdshot Chorioretinopathy, Birdshot type Choriorétinopathie type Birdshot Corio-retinopatia tipo Birdshot Corioretinopatia, tipo Birdshot Corioretinopatía tipo Birdshot hrdo:pat_id_3409 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601338 1171 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Herencia mitocondrial Hérédité mitochondriale Mitochondrial inheritance Mitochondrial inheritance Mitochondriale Vererbung Modo de hereditariedade mitocondrial Trasmissione mitocondriale disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CAPOS syndrome CAPOS-Syndrom Syndrome CAPOS Atassia cerebellare - areflessia - piede cavo - atrofia ottica - sordità neurosensoriale Ataxia cerebelosa - arreflexia - pés cavus - atrofia ótica - surdez neuro-senssorial Ataxia cerebelosa arreflexia pie cavo atrofia óptica y sordera neurosensorial Ataxie cérébelleuse - aréflexie - pieds creux - atrophie optique - surdité neurosensorielle Ataxie, zerebelläre - Areflexie - Pes cavus - Optikusatrophie - sensorineurale Schwerhörigkeit Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss hrdo:pat_id_341 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=(Trisomy+18q%5Bti%5D+OR+duplication+18q%5Bti%5D+OR+((%22chromosome+18%22+OR+Pair+18%5Btw%5D)+18q*%5Btw%5D+trisomy))+NOT+(mosaicism+OR+monosomy+18q*%5Bti%5D) Q92.3 1716 malformation syndrome Distal duplication 18q Duplication distale 18q Duplication télomérique 18q Duplicazione 18q distale Duplicazione 18q telomerica Telomeric duplication 18q Trisomia 18qter Trisomie 18q Trisomie 18qter Trisomy 18qter Trisomía 18q Trissomia 18q Distal trisomy 18q Duplicación 18q Duplicação 18q Duplikation 18q Trisomia 18q distale Trisomie distale 18q hrdo:pat_id_3410 Variabel Variabile Variable Variable Variable Variable Variável D016881 10053982 neant B60.8 2552 61842000 C0085407 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Microsporidiose Microsporidiose Microsporidiosi Microsporidiosis Microsporidiosis Mikrosporidiose hrdo:pat_id_3411 C535630 D006480 10023484 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=%22hemorrhagic+fever+with+renal+syndrome%22+OR+hemorrhagic+fever+with+renal+syndrome%5Bmajr%5D A98.5 340 102455002 364756009 C0019101 C2930957 disease Antavirosi Febbre da antavirus Febre por hantavírus Fiebre por hantavirus Fièvre à hantavirus Hantaviriasis Hantavirose Hantavirose Hantavirose Hantavirosis Hantavirus Fieber Hantavirus fever Febbre emorragica con sindrome renale Febre hemorrágica com nefropatia Fiebre hemorrágica con síndrome renal Fièvre hémorragique - syndrome rénal Hemorrhagic fever - renal syndrome Hämorrhagisches Fieber mit renalem Syndrom hrdo:pat_id_3412 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&details_term=Hemorrhagic+Fevers%2C+Viral 341 240523007 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Doença por Ebola vírus Ebola virus disease Ebola vírus, doença Ebola-Viruskrankheit Febbre emorragica da virus Ebola Maladie à virus Ebola Febbre emorragica virale Febre hemorrágica vírica Fieber, hämorrhagisches virenbedingtes Fiebre hemorrágica vírica Fièvre hémorragique virale Viral hemorrhagic fever hrdo:pat_id_3413 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&details_term=%28Arbovirus+Infections+OR+arbovirus+fever*%5Bti%5D%29+NOT+Tick-Borne+Diseases 344 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Arbovirose Arbovirose ARBO-Viren Fieber Arbovirus fever Febbre da arbovirus Febre por Arbovírus Fiebre por arbovirus Fièvre à arbovirus hrdo:pat_id_3414 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 156600 C537550 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=iris/ab%5Bmajr%5D+AND+%28microcoria%5Btw%5D+OR+miosis%5Btw%5D%29+AND+congenital%5Btw%5D 566 C1303009 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Miose congénita Miosi congenita Miosis congénita Miosis congénital Miosis, congenital Miosis, kongenitale Congenital microcoria Microcoria congenita Microcoria congénita Microcoria congénita Microcorie congénitale Mikrokorie, kongenitale hrdo:pat_id_3415 Variabel Variabile Variable Variable Variable Variable Variável D003551 10011775 B69 1560 105684008 59051007 C0010678 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cisticercose Cisticercosi Cisticercosis Cysticercose Cysticercosis Zystizerkose hrdo:pat_id_3416 Variabel Variabile Variable Variable Variable Variable Variável D014353 10001461 B56 3385 27031003 C0041228 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Maladie du sommeil Schlafkrankheit Sleeping sickness African trypanosomiasis Afrikanische Trypanosomiasis Tripanosomiasi Africana Tripanosomiasis africana Tripanossomíase Africana Trypanosomose africaine hrdo:pat_id_3417 226990 neant 2566 particular clinical situation in a disease or syndrome Prädisposition für chronische Ebstein-Barr-Virus Infektion Susceptibilidad a infecciones crónicas por virus de Epstein-Barr Susceptibility to chronic infection by Epstein-Barr virus Susceptibilité aux infections chroniques par le virus d'Epstein-Barr Suscetibilidade à infeção crónica pelo vírus de Epstein-Barr Suscettibilità alle infezioni croniche da virus di Epstein-Barr hrdo:pat_id_3418 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=optic+nerve+glioma%5Bmh%5D+OR+%28%28optic+nerve+glioma*%5Btw%5D+OR+optic+glioma*%5Btw%5D%29+NOT+medline%5Bsb%5D%29 C72.3 2086 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Glioma das vias óticas Glioma de vías ópticas Glioma delle vie ottiche Gliome des voies optiques Optic pathway glioma Optikusgliom hrdo:pat_id_3420 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 127750 neant G31.8 1648 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 Cortical Lewy body disease DLB DLB DLB Demencia de cuerpos de Lewy Demenz mit Lewy-Körpern Demenz, dysphasische hereditäre Demenza disfasica ereditaria Demência disfásica hereditária Diffuse Lewy body disease Enfermedad cortical de cuerpos de Lewy Enfermedad difusa de cuerpos de Lewy Lewy body dementia Lewy-Körperchen-Krankheit, diffuse Maladie à corps de Lewy diffus Malattia con corpi diffusi di Lewy Demencia con cuerpos de Lewy Dementia with Lewy body Demenza con corpi di Lewy Demência com corpos de Lewy Démence à corps de Lewy Lewy-Körperchen-Demenz hrdo:pat_id_3422 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 607685 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hypereosinophilic+syndrome%5Bmh%3Anoexp%5D+OR+hypereosinophilic+syndrome%5Bti%5D D47.5 3260 414450004 423294001 C0206141 etiological subtype 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Hypereosinophiles Syndrom, idiopathisches Idiopathic hypereosinophilic syndrome Sindrome ipereosinofilica idiopatica Syndrome hyperéosinophilique idiopathique Síndrome hipereosinofílico idiopático Síndrome hipereosinofílico idiopático hrdo:pat_id_3423 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 145410 300000 neant Q87.8 2745 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 BBB ligado ao X, síndrome BBB-Syndrom, X-chromosomales G-Syndrom Hipospadias - disfagia Hipospadias - hipertelorismo Hypertelorism-oesophageal abnormality-hypospadias syndrome Hypospadias-dysphagia syndrome Hypospadias-hypertelorism syndrome Hypospadie - Dyspaghie Hypospadie - Hypertelorismus Opitz G/BBB ligado ao X, síndrome de Opitz G/BBB-Syndrom, X-chromosomales Opitz ligado ao X, síndrome de Opitz syndrome Opitz-Frias syndrome Opitz-Frias, síndrome de Opitz-Frias-Syndrom Opitz-Syndrom, X-chromosomales Sindrome di Opitz Sindrome di Opitz-Frias Sindrome ipertelorismo-anomalia esofagea- ipospadia Sindrome ipospadia-disfagia Sindrome ipospadia-ipertelorismo Syndrome d'Opitz Syndrome d'Opitz-Frias Syndrome d'hypertélorisme-anomalies de l'oesophage-hypospadias Syndrome d'hypertélorisme-hypospadias Syndrome d'hypospadias-dysphagie Síndrome BBB ligado ao X Síndrome G Síndrome de Opitz Síndrome de Opitz G/BBB ligado ao X Síndrome de Opitz ligado ao X Síndrome de Opitz-Frias Síndrome de Opitz-Frias Síndrome de hipertelorismo - anomalías esofágicas - hipospadias Síndrome de hipertelorismo - hipospadias Síndrome de hipospadias - disfagia Opitz BBB/G-Syndrom Opitz G/BBB syndrome Sindrome di Opitz G/BBB Syndrome d'Opitz G/BBB Síndrome de Opitz BBB/G Síndrome de Opitz G/BBB hrdo:pat_id_3424 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=absent+pulmonary+valve%5Bti%5D+OR+absence%5Bti%5D+pulmonary+valve%5Ball%5D Q22.2 982 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown AVP Absence congénitale des valves pulmonaires Agenesia della valvola polmonare (PVA) Congenital absence of the pulmonary valve PVA Pulmonalklappenagenesie (PVA) Agenesia das valvas pulmonares Agenesia de válvulas pulmonares Agénésie des valves pulmonaires Assenza congenita della valvola polmonare Pulmonalklappe, kongenitales Fehlen der Pulmonary valve agenesis hrdo:pat_id_3425 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável neant Q25.7 980 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Absence d'une artère pulmonaire Absence of the pulmonary artery Agenesia de una arteria pulmonar Agenesia dell'arteria polmonare Ausência da artéria pulmonar Pulmonalarterienagenesie hrdo:pat_id_3426 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant Q25.4 1054 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Aneurisma de senos de Valsalva Aneurisma del seno di Valsalva Aneurisma dos seios de Valsalva Aneurysm of sinus of Valsalva Anévrysme du sinus de Valsalva Sinus-Valsalva-Aneurysma, kongenitales hrdo:pat_id_3427 10061060 neant Q24.5 1081 group of phenomes Anomalia congenita delle coronarie Anomalie congénitale des artères coronaires Anomalía congénita de arterias coronarias Coronary artery congenital malformation Fehlbildung der Koronararterien, kongenitale Malformação congénita das artérias coronárias hrdo:pat_id_3428 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Aortic+arch*%5Bti%5D+%28defect*%5Bti%5D+OR+abnormal*%5Bti%5D+OR+double%5Bti%5D+OR+right%5Bti%5D+OR+left%5Bti%5D+OR+cervical%5Bti%5D%29 Q25.4 1132 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Anomalia do arco aórtico Anomalie dell'arco aortico Aortenbogen-Defekte Aortic arch defects Arcos aórticos anormales Arcs aortiques anormaux hrdo:pat_id_3429 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=pulmonary+arter*%5Bti%5D+Pulmonary+artery%2Fab+(anomal*%5Bti%5D+OR+abnormal*%5Bti%5D)+origin%5Bti%5D+NOT+Coronary+Vessel+Anomalies Q25.7 1138 group of phenomes Abnormal origin of the pulmonary artery Arteria polmonare ad origine anomala Arteria pulmonar naciente de la aorta Artère pulmonaire d'origine anormale Artéria pulmonar com origem na aorta Pulmonalarterie, abnormaler Ursprung hrdo:pat_id_343 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 608363 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(trisomy%5Bti%5D+OR+microduplication%5Bti%5D+OR+duplication%5Bti%5D+OR+((chromosome+22)+trisomy%5Bmh%5D))+22q11*%5Bti%5D Q92.3 1727 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Dup22q11 Dup22q11 Dup22q11 Dup22q11 Duplicación 22q11.2 Duplication 22q11.2 Duplication 22q11.2 Duplicazione 22q11.2 Duplikation 22q11 Trisomia 22q11.2 Trisomie 22q11.2 Trisomy 22q11.2 Trisomía 22q11.2 22q11.2 microduplication syndrome Mikroduplikationssyndrom 22q11 Sindrome da microduplicazione 22q11.2 Syndrome de microduplication 22q11.2 Síndrome da microduplicação 22q11.2 Síndrome de microduplicación 22q11.2 hrdo:pat_id_3430 178370 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Pulmonary+atresia%5Bmh%5D+OR+Pulmonary+atresia%5Bti%5D)+(heart+septal+defects,+ventricular%5Bmh%5D+OR+ventricular+septal+defect*%5Bti%5D) Q25.5 1207 253591008 C0344976 morphological anomaly Atresia pulmonar com comunicação inter-ventricular Atresia polmonare - difetto del setto interventricolare Atresia pulmonar con comunicación interventricular Atrésie pulmonaire - communication interventriculaire Cardiopatia conotruncal familiar Pulmonalatresie mit Ventrikelseptumdefekt Pulmonary atresia with ventricular septal defect hrdo:pat_id_3434 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28aortic+coarctation%5Bti%5D+OR+aortic+coarctation%5Bmh%5D%29+atypic* Q25.1 1456 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Aortenkoarktation, abdominale Aórtico médio, síndrome Coarctation de l'aorte abdominale Coarctation of the abdominal aorta Coartación de la aorta abdominal Coartazione dell'aorta addominale Coartação da aorta abdominal Displasia da aorta média, síndrome Mid-Aortic-Syndrom Mid-aortic dysplastic syndrome Mid-aortic syndrome Midaortic syndrome Middle aortic syndrome Sindrome dell'aorta media Sindrome medio-aortica Sindrome medio-aortica displastica Sindrome medioaortica Syndrome mid-aortic Syndrome midaortic Síndrome aórtico medio Síndrome aórtico médio Síndrome de aorta media Síndrome displasia da aorta média Síndrome displásico de aorta media Aortenkoarktation, atypische Atypical coarctation of aorta Coarctation aortique atypique Coarctação atípica da aorta Coartación de aorta atípica Coartazione dell'aorta atipica hrdo:pat_id_3435 120000 C531623 D001017 10009807 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=aortic+coarctation%5Bti%5D+OR+aortic+coarctation%5Bmh%5D+OR+Aorta+coarctation%5Bti%5D+OR+coarctation+of+the+aorta%5Bti%5D Q25.1 1457 7305005 C0003492 morphological anomaly Aorta coarctation Aortenisthmusstenose Coarctation de l'aorte Coarctação do istmo Coartación ístmica Coartazione dell'aorta hrdo:pat_id_3436 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Triatrial+heart+OR+Cor+triatriatum Q24.2 1463 group of phenomes Cor triatriatum Coeur triatrial Corazón triatrial Coração triauricular Cuore triatriale Triatrial heart Triatriales Herz hrdo:pat_id_3437 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q24.8 1686 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cardiac diverticulum Diverticolo cardiaco Diverticule du coeur Divertículo cardíaco Divertículo cardíaco Herzdivertikel hrdo:pat_id_3439 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 314400 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=(valvular+heart%5Bti%5D+OR+%22tricuspid+valve+dysplasia%22+OR+%22mitral+valve+dysplasia%22+OR+%22valvular+dysplasia%22+OR+%22myxomatous+like%22)+congenital Q24.8 1864 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Displasia da tricúspide Displasia delle valvole mitrali Displasia tricúspide Mitralklappendysplasie Trikuspidalklappendysplasie Congenital valvular dysplasia Displasia valvolare congenita Displasia valvular del niño Displasia valvular infantil Dysplasie valvulaire congénitale Herzklappendysplasie, kongenitale hrdo:pat_id_3440 C537782 Q21.4 2037 C2931610 morphological anomaly Aortikopulmonalfenster Fenêtre aorto-pulmonaire Finestra aorto-polmonare Janela aórtica Ventana aorto-pulmonar Aorta-pulmonary artery fistula Aortikopulmonale Arterienfistel Fistola aorta-arteria polmonare Fistule aorte-artère pulmonaire Fístula aorta-arteria pulmonar Fístula aorto-pulmonar hrdo:pat_id_3441 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 265140 10037332 neant Q25.7 2038 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Aneurisma arterio-venoso pulmonar Aneurisma arteriovenoso pulmonar Aneurisma arterovenoso polmonare Aneurysma, arteriovenöses pulmonales Anévrysme artério-veineux pulmonaire Pulmonar arteriovenous aneurysm Fistel, arteriovenöse pulmonale Fistola arterovenosa polmonare Fistule artério-veineuse pulmonaire Fístula arterio-venosa pulmonar Fístula arterio-venosa pulmonar Pulmonary arteriovenous fistula hrdo:pat_id_3442 neant Q27.3 2039 morphological anomaly Fistel, arteriovenöse systemische Fistola arterio-venosa sistemica Fistule artério-veineuse systémique Fístula arterio-venosa sistémica Fístula arterio-venosa sistémica Systemic arteriovenous fistula hrdo:pat_id_3443 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Coronary%5Bti%5D+fistula*%5Bti%5D Q24.5 2041 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Coronaro-cardiac fistula Coronary arterial malformations Fehlbildung, koronararterielle Fistel, koronarokardiale Fistola coronarocardiaca Fistule coronaro-cardiaque Fístula coronario-cardíaca Malformaciones arteriales coronarias Malformations artérielles coronariennes Malformazioni delle arterie coronarie Coronary arterial fistulas Fistole delle arterie coronarie Fistules artérielles coronariennes Fístula coronario-cardíaca Fístulas coronario-arteriales Koronararterienfisteln hrdo:pat_id_3444 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 178600 265400 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hypertension,pulmonary%5Bmajr%5D+AND+primary+pulmonary+hypertension%5Btw%5D I27.0 422 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Hipertensión arterial pulmonar idiopática y/o familiar Hipertensão pulmonar primária (HPP) Hypertension artérielle pulmonaire idiopathique et/ou familiale Idiopathic and/or familial pulmonary arterial hypertension Ipertensione arteriosa polmonare familiare e/o idiopatica Pulmonale arterielle Hypertonie, idiopathische und/oder familiäre hrdo:pat_id_3445 Variabel Variabile Variable Variable Variable Variable Variável 277200 neant Q22.6 439 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hipoplasia do ventrículo direito Hipoplasia ventricular derecha aislada Hypoplasie ventriculaire droite isolée Hypoplasie, rechtsventrikuläre Ipoplasia isolata del ventricolo destro Right ventricular hypoplasia hrdo:pat_id_3447 neant Q23.2 Q23.3 Q23.8 2447 group of phenomes Congenital mitral malformation Malformación mitral congénita Malformation mitrale congénitale Malformazione congenita della mitrale Malformação mitral congénita Mitralklappenfehlbildung, kongenitale hrdo:pat_id_3448 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 10022599 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Aortic+arch+interruption%5Btw%5D+OR+interrupted+aortic+arch%5Btw%5D Q25.4 2299 218728005 C0152419 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Aortenbogenunterbrechung Aortic arch interruption Interrupción del arco aótico Interruption de la crosse aortique Interrupção do arco aórtico Interruzione dell'arco aortico hrdo:pat_id_3450 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 217095 D004310 10013611 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Double+outlet+right+ventricle%5Bti%5D+OR+Taussig-Bing+Anomaly Q20.1 3426 204299009 7484005 C0013069 morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown DORV DORV Doppelausstromventrikel, rechter Double outlet right ventricle Ventricolo destro a doppia uscita (DORV) Ventricule droit à double issue Ventrículo derecho de doble salida Ventrículo direito com dupla saída hrdo:pat_id_3451 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Double+outlet+left+ventricle%5Btw%5D Q20.2 3427 7368005 C0265809 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Doppelausstromventrikel, linker Double outlet left ventricle Ventricolo sinistro a doppia uscita Ventricule gauche à double issue Ventrículo esquerdo com dupla saída Ventrículo izquierdo de doble salida hrdo:pat_id_3453 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=venae+cavae%2Fab+congenital Q26.8 3091 group of phenomes Anomalia do retorno venoso sistémico Congenital abnormal systemic venous return Retorno venoso sistémico anómalo Retour veineux systémique anormal congénital Ritorno venoso sistemico anomalo congenito Venenrückfluss, anormaler systemischer, kongenitaler hrdo:pat_id_3454 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 271950 Q24.4 3092 morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Estenose subaórtica fixa Estenosis subaórtica fija Fixed subaortic stenosis Rétrécissement aortique sous-valvulaire Stenosi fissa sottoaortica Subaortenstenose, fixierte hrdo:pat_id_3455 10010371 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Aortic+valve+stenosis%5Bti%5D+congenital*+OR+Aortic+valve+stenosis%2Fcn%5Bmh%5D)+NOT+(bicuspid+OR+williams%5Btw%5D)+ Q23.0 3093 18546004 C0152417 morphological anomaly Aortenklappenstenose im Kindesalter Congenital aortic valve stenosis Estenose da válvula aórtica, infantil Estenosis aórtica valvular del niño Stenosi aortica valvolare congenita Sténose aortique valvulaire congénitale hrdo:pat_id_3457 Q33.2 3161 malformation syndrome Broncho-pulmonale Sequestration, kongenitale Congenital bronchopulmonary sequestration Secuestro broncopulmonar congénito Sequestrazione broncopolmonare congenita Séquestration bronchopulmonaire congénitale Congenital pulmonary sequestration Lungensequestration, kongenitale Secuestro pulmonar congénito Sequestrazione polmonare congenita Sequestro pulmonar Séquestration pulmonaire congénitale hrdo:pat_id_3459 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=pulmonary+vein+stenosis%5Bti%5D+OR+pulmonary+venous+stenosis%5Bti%5D Q26.8 3188 11614003 C0265915 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Congenital pulmonary veins stenosis Estenose das veias pulmonares Estenosis de venas pulmonares Lungenvenenstenose Stenosi congenita delle vene polmonari Sténose congénitale des veines pulmonaires hrdo:pat_id_346 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Trisomy+9p%5Bti%5D+OR+duplication+9p*%5Bti%5D+OR+((%22chromosome+9%22+OR+Pair+9%5Btw%5D)+%229p%22+trisomy))+NOT+(mosaicism+OR+monosomy+9p*%5Bti%5D) Q92.2 236 malformation syndrome Duplication 9p Duplication 9p Duplicazione 9p Short arm of chromosome 9 duplication Short arm of chromosome 9 trisomy Trisomia del braccio corto del cromosoma 9 Trisomie 9p partielle Trisomie du bras court du chromosome 9 Trisomía 9p parcial Trissomia parcial 9p Duplicación 9p parcial Duplicação parcial 9p Duplikation 9p partial Trisomia 9p Trisomie 9p Trisomy 9p hrdo:pat_id_3460 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 265500 D011666 10037451 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Pulmonary+valve+stenosis%5Bti%5D+OR+Pulmonic+stenosis%5Bti%5D+OR+%28valve%5Bti%5D+Pulmonary+valve+stenosis%5Bmh%3Anoexp%5D%29%29+humans Q22.1 3189 67278007 C0162164 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Congenital pulmonary valve stenosis Estenose da válvula pulmonar Estenosis pulmonar valvular Pulmonalstenose, valvuläre Stenosi valvolare polmonare congenita Sténose valvulaire pulmonaire congénitale hrdo:pat_id_3461 neant Q24.3 3190 clinical subtype Estenose sub-pulmonar Estenosis sub-pulmonar Stenose, subpulmonale Stenosi sottopolmonare Sténose sous-pulmonaire Subpulmonary stenosis hrdo:pat_id_3462 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 106700 D012587 10051951 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=scimitar+syndrome%5Bmajr%5D Q26.8 185 39905002 malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Anomalie der epibronchialen rechten Pulmonalarterie Congenital pulmonary venolobar syndrome Epibronchial right pulmonary artery syndrome Halasz syndrome Halasz-Syndrom Hypogenetic lung syndrome Hypogenetisches Lungensyndrom Hypogénésie pulmonaire Kongenitales pulmonales venolobares Syndrom Scimitar-Anomalie Sindrome da ipogenesia polmonare Sindrome di Halasz Sindrome epibronchiale dell'arteria polmonare destra Sindrome venolobare polmonare congenita Syndrome de Halasz Syndrome veinolobaire pulmonaire congénital Síndrome de Halasz Síndrome de la arteria pulmonar epibronquial derecha Síndrome del pulmón hipogenético Síndrome venolobar pulmonar congénito Scimitar syndrome Scimitar-Syndrom Sindrome della ''scimitarra'' Syndrome du cimeterre Síndrome de Scimitar Síndrome de la cimitarra hrdo:pat_id_3463 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 608808 613853 613854 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Transposition+of+the+Great+Arteries Q20.3 860 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Congenitally uncorrected transposition of the great vessels Discordance ventriculo-artérielle avec concordance atrio-ventriculaire Discordance ventriculo-artérielle isolée Discordancia ventriculoarterial aislada Discordancia ventriculoarterial con concordancia atrioventricular Discordanza ventricolo-arteriosa con concordanza atrioventricolare Discordanza ventricolo-arteriosa isolata Discordância ventriculo-arterial isolada Isolated ventriculoarterial discordance Kongenitale Transposition der großen Gefäße, unkorrigierte Transposición no corregida congénitamente de los grandes vasos Transposition congénitalement non corrigée des grosses artères Trasposizione congenitamente non corretta dei grandi vasi Ventriculoarterial discordance with atrioventricular concordance Ventrikuloarterielle Diskordanz mit atrioventrikulärer Konkordanz Ventrikuloarterielle Diskordanz, isolierte Congenitally uncorrected transposition of the great arteries Kongenitale unkorrigierte Transposition der großen Arterien Transposición no corregida congénitamente de las grandes arterias Transposition congénitalement non corrigée des gros vaisseaux Transposição dos grandes vasos Trasposizione congenitamente non corretta delle grandi arterie hrdo:pat_id_3465 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=ventricular+tunnel%5Bti%5D Q20.8 3400 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Aorto-ventricular tunnel Aorto-ventrikulärer Tunnel Tunnel aorto-ventriculaire Tunnel aortoventricolare Túnel aorta-ventrículo Túnel ventrículo izquierdo-aorta hrdo:pat_id_3466 10045545 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Univentricular%5Btw%5D+(heart+defects,+congenital+OR+heart+ventricles%2Fab) Q20.4 1464 morphological anomaly Doble entrada ventricular izquierda Double inlet left ventricle Double-Inlet-Left-Ventricle (DILV) Ventricolo sinistro a doppia uscita Coeur univentriculaire Corazón univentricular Coração univentricular Cuore univentricolare Herz, univentrikuläres Univentricular heart hrdo:pat_id_3468 Variabel Variabile Variable Variable Variable Variable Variável 601859 603909 614470 D056735 10069521 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Autoimmune+lymphoproliferative%5Bti%5D D72.8 D89.8 3261 C1328840 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ALPS ALPS ALPS ALPS ALPS Canale-Smith syndrome Canale-Smith, síndrome de Canale-Smith-Syndrom Deficit di FAS Deficiência de FAS Déficit de FAS Déficit en FAS FAS deficiency FAS, deficiência de FAS-Mangel SLAI SLPA Sindrome di Canale-Smith Syndrome de Canale-Smith Syndrome lymphoprolifératif avec auto-immunité Síndrome de Canale-Smith Síndrome de Canale-Smith Autoimmun-lymphoproliferatives Syndrom Autoimmune lymphoproliferative syndrome Sindrome linfoproliferativa autoimmune Syndrome lymphoprolifératif auto-immun Síndrome linfoproliferativo autoimune Síndrome linfoproliferativo autoinmune hrdo:pat_id_3469 Variabel Variabile Variable Variable Variable Variable Variável 146830 240500 607594 613493 613494 613495 613496 614699 614700 D017074 10021449 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%22common+variable+immunodeficiency%22%5BTIAB%5D+NOT+Medline%5BSB%5D%29+OR+%22common+variable+immunodeficiency%22%5BMeSH+Terms%5D D83 1572 23238000 C0009447 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Antikörper-Mangel, primärer CVID CVID CVID Deficit idiopatico di immunoglobuline Deficit primitivo di anticorpi Déficit idiopathique en immunoglobulines Déficit idiopático de inmunoglobulinas Déficit primario de anticuerpos Déficit primitif en anticorps Hipogammaglobulinemia primaria Hypogammaglobulinämie, primäre Hypogammaglobulinémie primitive Idiopathic immunoglobulin deficiency Immundefekt, allgemeiner variabler Immunglobulinmangel, idiopathischer Ipogammaglobulinemia primitiva Primary antibody deficiency Primary hypogammaglobulinemia Common variable immunodeficiency Déficit immunitaire commun variable Immundefektsyndrom, variables Immunodeficienza variabile comune Imunodeficiência variável comum Inmunodeficiencia común variable hrdo:pat_id_3474 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 267000 neant Q87.3 2849 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Nefroblastomatose - ascite fetal - macrossomia - tumor de Wilms Nefroblastomatosi - ascite fetale - macrosoma - tumore di Wilms Nefroblastomatosis - ascitis fetal - macrosomía - tumor de Wilms Nephroblastom - fetaler Aszites - Makrosomie - Wilms Tumor Nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor Néphroblastomatose - ascite foetale - macrosome - tumeur de Wilms Perlman syndrome Perlman-Syndrom Sindrome di Perlman Syndrome de Perlman Síndrome de Perlman Síndrome de Perlman hrdo:pat_id_3480 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601776 neant Q79.6 2953 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ATCS ATCS ATCS ATCS ATCS Adducted thumb-clubfoot syndrome Adducted thumbs-arthrogryposis, Dundar type Adduzierte Daumen-Klumpfuß-Syndrom CHST14-Gen-assoziiertes EDS CHST14-related EDS CHST14-related Ehlers-Danlos syndrome D4ST1-deficient EDS D4ST1-deficient Ehlers-Danlos syndrome D4ST1-defizientes EDS D4ST1-defizientes Ehlers-Danlos-Syndrom Daumen, adduzierte - Arthrogrypose, Typ Dundar EDS CHST14-associata EDS D4ST1-deficitaria EDS Typ Kosho EDS associé à CHST14 EDS kosho type EDS musculocontractural EDS par déficit en D4ST1 EDS type Kosho EDS type arthrogryposique EDS, arthrogryposer Typ EDS, arthrogryposic type EDS, musculocontractural type EDS, muskulo-kontrakturaler Typ EDS, tipo Kosho EDS, tipo artrogripotico EDS, tipo muscolo-contratturale Ehlers-Danlos syndrome, Kosho type Ehlers-Danlos syndrome, arthrogryposic type Ehlers-Danlos-Syndrom Typ Kosho Ehlers-Danlos-Syndrom, CHST14-abhängiges Ehlers-Danlos-Syndrom, arthrogryposer Typ Pollici addotti-artrogriposi, tipo Dundar Pouces en adduction-arthrogrypose, type Dundar Pulgares en aducción - artrogriposis, tipo Dundar SED D4ST1-deficiente SED associé à CHST14 SED musculocontractural SED par déficit en D4ST1 SED relacionado con CHST14 SED tipo Kosho SED tipo artrogripósico SED tipo musculocontractural SED type Kosho SED type arthrogryposique Sindrome di Ehlers-Danlos CHST14-associata Sindrome di Ehlers-Danlos D4ST1-deficitaria Sindrome di Ehlers-Danlos, tipo Kosho Sindrome di Ehlers-Danlos, tipo artrogripotico Sindrome pollice addotto-piede torto Syndrome d'Ehlers-Danlos associé à CHST14 Syndrome d'Ehlers-Danlos par déficit en D4ST1 Syndrome d'Ehlers-Danlos type Kosho Syndrome d'Ehlers-Danlos type arthrogryposique Syndrome des pouces en adduction-pieds bots Síndrome de Ehlers-Danlos D4ST1-deficiente Síndrome de Ehlers-Danlos relacionado con CHST14 Síndrome de Ehlers-Danlos, tipo Kosho Síndrome de Ehlers-Danlos, tipo artrogripósico Síndrome pulgares en aducción - pie zambo Ehlers-Danlos syndrome, musculocontractural type Ehlers-Danlos-Syndrom, muskulo-kontrakturaler Typ Polegares adutos - artrogripose, tipo Dundar Sindrome di Ehlers-Danlos, tipo muscolo-contratturale Syndrome d'Ehlers-Danlos type musculocontractural Síndrome de Ehlers-Danlos, tipo musculocontractural hrdo:pat_id_3482 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 610910 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Pulmonary+alveolar+proteinosis%5Bti%5D+OR+Pulmonary+alveolar+proteinosis%5Bmh%5D J84.0 747 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Autoimmune PAP Autoimmune pulmonary alveolar proteinosis Deficiência de proteína B do surfactante pulmonar Idiopathic PAP PAP autoimmune PAP autoinmune PAP idiopathique PAP idiopatica PAP idiopática PAP, autoimmune PAP, idiopathische Proteinosi alveolare polmonare autoimmune Proteinosis alveolar pulmonar autoinmune Proteína B do surfactante pulmonar, deficiência de Protéinose alvéolaire pulmonaire auto-immune Pulmonale Alveolarproteinose, autoimmune Idiopathic pulmonary alveolar proteinosis Proteinose alveolar pulmonar Proteinosi alveolare polmonare idiopatica Proteinosis alveolar pulmonar idiopática Protéinose alvéolaire pulmonaire idiopathique Pulmonale Alveolarproteinose, idiopathische hrdo:pat_id_3484 neant Q87.0 3082 malformation syndrome Kozlowski-Krajewska syndrome Kozlowski-Krajewska, síndrome de Kozlowski-Krajewska-Syndrom Sindrome di Kozlowski-Krajewska Syndrome de Kozlowski-Krajewska Síndrome de Kozlowski-Krajewska Atraso mental - polidactilia - cabelo impenteável Déficit intelectual - polidactilia - cabellos impeinables Déficit intellectuel - polydactylie - cheveux incoiffables Geistige Retardierung - Polydaktylie - unkämmbare Haare Intellectual deficit - polydactyly - uncombable hair Ritardo mentale - polidattilia - capelli aggrovigliati hrdo:pat_id_3485 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 180500 601499 602482 C535679 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=eye+diseases%5Bmajr%5D+AND+rieger%5Btw%5D+NOT+axenfeld%5Btw%5D Q13.8 782 204154009 267585008 417604002 47507006 C0265341 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Axenfeld syndrome Axenfeld-Syndrom Rieger syndrome Rieger-Syndrom Sindrome di Axenfeld Sindrome di Rieger Syndrome d'Axenfeld Syndrome de Rieger Síndrome de Axenfeld Síndrome de Rieger Axenfeld-Rieger syndrome Axenfeld-Rieger-Syndrom Sindrome di Axenfeld-Rieger Syndrome d'Axenfeld-Rieger Síndrome de Axenfeld-Rieger Síndrome de Rieger hrdo:pat_id_3487 3160 malformation syndrome Disrupção vascular, sequência Secuencia de disrupción vascular Sequenza da amputazione vascolare Séquence de disruption vasculaire Vascular disruption sequence Vaskuläre Gefäßunterbrechung hrdo:pat_id_3488 186350 3259 malformation syndrome Sindactilia-polidactilia-lóbulo auditivo anormal Sindattilia - polidattilia - anomalie del lobo dell'orecchio Syndactylie - polydactylie - lobe d'oreille anormal Syndactyly-polydactyly-ear lobe syndrome Syndaktylie-Polydaktylie-Ohrmuschel-Syndrom Síndrome sindactilia - polidactilia - lóbulo auricular hrdo:pat_id_3489 179300 Q74.0 3269 morphological anomaly Synostose radio-cubitale proximale Proximal radioulnar synostosis Sinostose radio-cubital Sinostosi radioulnare prossimale Sinostosis radiocubital proximal Synostose radio-ulnaire proximale Synostose, proximale radioulnare hrdo:pat_id_3491 Q99.8 3309 malformation syndrome Isochromosom 5p Isochromosome 5p Isochromosome 5p Isocromosoma 5p Isocromosoma 5p Tetrasomia 5p Tetrasomie 5p Tetrasomy 5p Tetrasomía 5p Tetrassomia 5p Tétrasomie 5p hrdo:pat_id_3493 C536579 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=(Trisomy+17q%5Bti%5D+OR+duplication+17q*%5Bti%5D+OR+((%22chromosome+17%22+OR+Pair+17%5Btw%5D)+%2217q%22+trisomy))+NOT+(mosaicism+OR+monosomy+17q*%5Bti%5D) Q92.3 3379 C2931247 malformation syndrome Distal duplication 17q Duplication distale 17q Duplication télomérique 17q Duplicazione 17q distale Duplicazione 17q telomerica Telomeric duplication 17q Trisomia 17qter Trisomie 17qter Trisomy 17qter Distal trisomy 17q Trisomia 17q distale Trisomie 17q22 Trisomie distale 17q Trisomía 17q22 Trissomia 17q22 hrdo:pat_id_3494 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 276700 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28tyrosinemia%5Bti%5D+OR+tyrosinaemia%5Bti%5D+OR+tyrosinemias%5Bmh%5D%29+%28type+1%5Btw%5D+OR+type+i%5Btw%5D+OR+Fumarylacetoacetase%5Btw%5D%29 E70.2 882 410056006 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficiencia de FAH Deficiencia de fumarilacetoacetasa Deficiencia de fumarilacetoacetasa hidrolasa Deficit di FAH Deficit di fumaril aceto-acetasi Deficit di fumaril aceto-acetato idrolasi Deficiência de fumarilacetoacetase Déficit de FAH Déficit de fumarilacetoacetasa Déficit de fumarilacetoacetasa hidrolasa Déficit en FAH Déficit en fumaryl acéto-acétase Déficit en fumarylacetoacetate hydrolase FAH deficiency FAH-Mangel Fumarilacetoacetase, deficiência de Fumarylacetoacetase deficiency Fumarylacetoacetase-Hydrolase-Mangel Fumarylacetoacetase-Mangel Fumarylacetoacetate hydrolase deficiency Hepatorenal tyrosinemia Tirosinemia epatorenale Tirosinemia hepato-renal Tirosinemia hepatorrenal Tyrosinose hépato-rénale Tyrosinämie hepatorenale Tyrosinämie, hepatorenale Tirosinemia tipo 1 Tirosinemia tipo 1 Tirosinemia, tipo 1 Tyrosinemia type 1 Tyrosinämie Typ 1 Tyrosinémie type 1 hrdo:pat_id_3495 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 192050 neant 3411 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Double uterus - hemivagina - renal agenesis Duplo útero - hemivagina - agenesia renal Utero doppio - emivagina - agenesia renale Uterusverdoppelung - Hemivagina - Nierenagenesie Utérus double - hémivagin - agénésie rénale Útero doble-hemivagina-agenesia renal hrdo:pat_id_3497 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 193400 314560 D014842 10047715 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=von+willebrand+disease%5Bmajr%5D+OR+%28%28willebrand+disease%5Btw%5D+OR+willebrand%27s+disease%5Btw%5D%29+NOT+medline%5Bsb%5D%29 D68.0 903 128105004 C0042974 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Doença de von Willebrand Hereditary Willebrand disease Maladie de Willebrand Maladie de Willebrand constitutionnelle Maladie de Willebrand héréditaire Malattia di Willebrand Willebrand disease von Willebrand, doença de Doença de Willebrand Enfermedad de Von Willebrand Maladie de Von Willebrand Malattia di Von Willebrand Von Willebrand disease Von-Willebrand-Syndrom hrdo:pat_id_3498 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 280000 neant Q87.8 3474 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CHIME syndrome Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual deficit-ear anomalies syndrome Displasia neuroectodermica, tipo CHIME Displasia neuroectodérmica tipo CHIME Displasia neuroectodérmica, tipo CHIME Displasia neuroectodérmica, tipo Zunich Dysplasie neuro-ectodermique type CHIME Dysplasie, neuroektodermale, Typ CHIME Dysplasie, neuroektodermale, Typ Zunich Neuroectodermal dysplasia, CHIME type Neuroectodermal syndrome, Zunich type Sindrome CHIME Sindrome coloboma-cardiopatia-dermatosi ittiosiforme-deficit cognitivo-orecchie anomale Sindrome neuroectoderma, tipo Zunich Syndrome CHIME Syndrome colobome-maladie cardiaque congénitale-dermatose ichthyosiforme-déficit intellectuel-anomalie des oreilles Syndrome neuroectodermique type Zunich Síndrome CHIME Síndrome de coloboma - enfermedad cardíaca congénita - dermatosis ictiosiforme - déficit intelectual - anomalías de las orejas Sindrome di Zunich-Kaye Syndrome de Zunich-Kaye Síndrome de Zunich-Kaye Síndrome de Zunich-Kaye Zunich-Kaye syndrome Zunich-Kaye-Syndrom hrdo:pat_id_3499 neant 995 malformation syndrome Holmes Benacerraf, síndrome de Holmes-Benacerraf syndrome Holmes-Benacerraf-Syndrom Sindrome di Holmes-Benacerraf Syndrome de Holmes-Benacerraf Aquinesia fetal síndrome ligado al X Fetales Akinesie-Syndrom, X-chromosomales Sindrome da acinesia fetale, legata all'X Syndrome d'akinésie fœtale lié à l'X Síndrome acinesia fetal ligada ao X X-linked fetal akinesia syndrome hrdo:pat_id_3502 neant I45.5 1260 disease Bloqueo del seno auricular familiar Bloc sino-auriculaire familial Blocco del seno-atriale familiare Bloqueio cardíaco sino-auricular Bloqueo sino-auricular familiar Herzblock, sinuaurikulärer Sino-auricular heart block hrdo:pat_id_3505 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter C538046 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Chromosome+17%5Bmh%5D+ring+chromosomes%5Bmh%5D)+OR+ring+chromosome+17%5Btw%5D+OR+ring+17+chromosome%5Btw%5D Q93.2 1441 C2931714 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Chromosome 17 en anneau Cromosoma 17 ad anello Cromosoma 17 en anillo Cromossoma 17 em anel Ring chromosome 17 Ringchromosom 17 hrdo:pat_id_3506 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 202200 202355 607398 609197 614736 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Glucocorticoid+deficiency%5Btw%5D+familial+OR+acth+resistance%5Btw%5D+OR+%28Adrenal+Insufficiency%5Bmh%3Anoexp%5D+Glucocorticoids/df%29 E27.1 361 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ACTH resistance ACTH-Resistenz Resistencia a ACTH Resistenza all'ACTH Resistenza all'ormone adrenocorticotropo (ACTH) Résistance à l'ACTH Deficit familiare di glucocorticoidi Deficiência familiar de glucocorticóides Déficit familiar aislado de glucocorticoides Déficit isolé familial en glucocorticoïdes Familial glucocorticoid deficiency Glukokortikoid-Mangel, familiärer isolierter hrdo:pat_id_3508 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601829 C538185 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28dysostoses%5Bmh%5D+OR+dysostos*%5Btw%5D%29+AND+palagonia*%5Btw%5D Q75.4 1787 C1866168 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acrofacial dysostosis, Palagonia type Disostose acro-facial tipo Palagonia Disostosi acrofacciale, tipo Palagonia Disostosis acrofacial tipo Palagonia Dysostose acrofaciale type Palagonia Dysostose, akrofaziale, Palagonien-Typ hrdo:pat_id_3510 Variabel Variabile Variable Variable Variable Variable Variável neant Q68.2 1863 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Femoral trochlear groove insufficiency Hipoplasia de la tróclea femoral Hypoplasia of the femoral trochlea Hypoplasie de la trochlée fémorale Insuficiencia del surco troclear femoral Displasia da tróclea Displasia troclear Displasia trocleare Dysplasie trochléenne Trochleadysplasie Trochlear dysplasia hrdo:pat_id_3513 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 227810 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28glut2+OR+glut+2%5Btw%5D%29+deficiency E74.0 2088 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Bickel-Fanconi glycogenosis Deficiência de Glut2 Doença de Fanconi-Bickel Doença de glicogenose tipo IX Enfermedad de Fanconi-Bickel Enfermedad de almacenamiento de glucógeno tipo 11 Enfermedad por almacenamiento de glucógeno de tipo 9 Fanconi-Bickel disease Fanconi-Bickel, doença de Fanconi-Bickel-Syndrom GSD da deficit di GLUT2 GSD due to GLUT2 deficiency GSD par déficit en GLUT2 GSD por déficit de GLUT2 GSD tipo XI GSD, tipo XI Glicogenose tipo IX, doença de Glicogenosi da deficit di GLUT2 Glicogenosi di Bickel-Fanconi Glucogenosis de Bickel-Fanconi Glucogenosis por déficit de GLUT2 Glut2, deficiência de Glut2-Mangel Glycogenosis due to GLUT2 deficiency Glycogénose de Bickel-Fanconi Glykogen-Speicherkrankheit Typ 11 Maladie de Fanconi-Bickel Malattia da deposito di glicogeno, tipo 11 Malattia di Fanconi-Bickel Bickel-Fanconi Glykogenose Enfermedad de almacenamiento de glucógeno por déficit de GLUT2 Glicogenose de Bickel-Fanconi Glycogen storage disease due to GLUT2 deficiency Glycogènose par déficit en GLUT2 Malattia da deposito di glicogeno dovuta a deficit di GLUT2 hrdo:pat_id_3521 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=deafness+tubular+acidosis+microcytic+anemia 3240 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown clinical syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sindrome di Yoshimura-Takeshita Syndrome de Yoshimura-Takeshita Síndrome de Yoshimura-Takeshita Síndrome de Yoshimura-Takeshita Yoshimura-Takeshita syndrome Yoshimura-Takeshita, síndrome de Yoshimura-Takeshita-Syndrom Calcificación del sistema nervioso central - sordera - acidosis tubular - anemia Calcification du système nerveux central - surdité - acidose tubulaire - anémie Calcificazione del sistema nervosa centrale - sordità - acidosi tubolare - anemia Central nervous system calcification - deafness - tubular acidosis - anemia Schwerhörigkeit - tubuläre Azidose - Anämie Surdez - acidose tubular - anemia hrdo:pat_id_3523 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=His+bundle+tachycardia%5Btw%5D+OR+%28%28Bundle+of+His/ab+OR+His+bundle%5Btw%5D%29+Tachycardia%2C+Ectopic+Junctional%29 I47.2 3283 233901002 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown JET JET Junctional ectopic tachycardia Tachycardie jonctionnelle ectopique Taquicardia ectópica juntural His bundle tachycardia His-Bündel-Tachykardie Tachicardia del nodo di His Tachycardie hisienne Taquicardia del haz de His Taquicardia do feixe de His hrdo:pat_id_3525 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 192605 604772 611938 614021 614916 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=catecholaminergic+polymorphic+ventricular+tachycardia%5Btw%5D I47.2 3286 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Battiti prematuri ventricolari multifocali Bidirectional tachycardia Bidirectional tachycardia induced by catecholamine Bidirektionale katecholaminerge Tachykardie CPVT CPVT CPVT CPVT Doble taquicardia inducida por catecolaminas Double tachycardia induced by catecholamines Double tachycardie induite par les catécholamines Extrasystole ventriculaire multifocale Extrasystolen, polytope ventrikuläre Fibrilación ventricular paroxística Fibrillation ventriculaire paroxystique Fibrillazione ventricolare parossistica Latidos ventriculares prematuros multifocales Malignant paroxysmal ventricular tachycardia Multifocal ventricular premature beats Paroxysmal ventricular fibrillation Paroxysmales Kammerflimmern Syncopal paroxysmal tachycardia Syncopal tachyarythmia TVPC TVPC Tachiaritmia sincopale Tachicardia bidirezionale Tachicardia bidirezionale indotta dalle catecolamine Tachicardia doppia indotta dalle catecolamine Tachicardia parossistica sincopale Tachicardia ventricolare parossistica maligna Tachyarrhythmie, synkopale Tachyarythmie syncopale Tachycardie bidirectionnelle Tachycardie bidirectionnelle induite par les catécholamines Tachycardie paroxystique syncopale Tachycardie ventriculaire paroxystique maligne Tachykardie, bidirektionale Tachykardie, maligne paroxysmale ventrikuläre Tachykardie, paroxysmale synkopale Taquicardia bidireccional Taquicardia bidireccional inducida por catecolaminas Taquicardia paroxística sincopal Taquicardia sincopal Taquicardia ventricular paroxística maligna Catecholaminergic polymorphic ventricular tachycardia Tachicardia ventricolare polimorfa catecolaminergica Tachycardie ventriculaire polymorphe catécholaminergique Tachykardie, katecholaminerge polymorphe ventrikuläre Taquicardia ventricular polimórfica catecolaminérgica Taquicardia ventricular polimórfica catecolinérgica hrdo:pat_id_3528 Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=muscular+diseases%5Bmajr%5D+AND+distal%5Bti%5D+AND+myopathy%5Bti%5D G71.0 599 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo group of phenomes Distal myopathy Miopatia distal (termo genérico) Miopatia distale Miopatía distal (término genérico) Myopathie distale Myopathie, distale hrdo:pat_id_3529 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 259900 260000 613616 D006959 10020703 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Hyperoxaluria%5Bti%5D+OR+Hyperoxaluria%5Bmh%5D E74.8 416 C0020500 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Alanina-glioxilato aminotransferase, deficiência de (Hiperoxalúria tipo 2) D-glicerato desidrogenase, deficiência de (Hiperoxalúria tipo 1) Deficiência de D-glicerato desidrogenase (Hiperoxalúria tipo 1) Deficiência de alanina-glioxilato aminotransferase (Hiperoxalúria tipo 2) Oxalose Oxalose Hiperoxaluria Hiperoxalúria Hyperoxalurie Hyperoxalurie primitive Iperossaluria Primary hyperoxaluria hrdo:pat_id_353 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 610003 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Neuronal+Ceroid-Lipofuscinosis/ge+AND+%28finnish%5Btw%5D+OR+northern%5Btw%5D%29 E75.4 1947 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CLN, variante épilepsie nordiaque CLN8 disease, Northern epilepsy variant Ceroid-Lipofuszinose, neuronale, nordische Epilepsie-Variante Ceroidolipofuscinosi neuronale, variante epilessia nordica Céroïde-lipofuscinose neuronale, variante épilepsie nordique Epilepsia nórdica Epilepsie nordique Epilepsie, nordische Epilessia nordica Maladie CLN8, variante épilepsie nordique Malattia CLN8, variante epilessia nordica NCL, Northern epilepsy variant NCL, Northern epilepsy variant NCL, variante di epilessia nordica NCL, variante épilepsie nordiaque Neuronal ceroid lipofuscinosis, Northern epilepsy variant Nordische Epilepsie, CLN8-assoziierte Northern epilepsy Epilepsia progresiva - déficit intelectual, tipo finlandés Epilepsia progressiva - deterioração mental Epilepsie - déficit intellectuel, type finnois Epilepsie, progressive - Intelligenzminderung, Finnischer Typ Epilessia progressiva - ritardo mentale, tipo Finnico Progressive epilepsy - intellectual deficit, Finnish type hrdo:pat_id_3530 Variabel Variabile Variable Variable Variable Variable Variável D051677 10025552 2023 34360000 443439001 C0334463 disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Fibrohistiozytom, malignes Fibrohistiocytome malin Histiocitoma fibroso maligno Histiocitoma fibroso maligno Histiozytom, fibröses malignes Istiocitoma fibroso maligno Malignant fibrous histiocytoma hrdo:pat_id_3534 Variabel Variabile Variable Variable Variable Variable Variável C531613 A06 67 C2930799 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Amebiasi da Entamoeba histolytica Amebiasis por Entamoeba histolytica Amebiose por Entamoeba histolytica Amibiase à Entamoeba histolytica Amoebiasis due to Entamoeba histolytica Amöbiasis durch Entamoeba histolytica hrdo:pat_id_3535 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável D003453 10011490 B45 1546 42386007 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Criptococcosi Criptococose Criptococosis Cryptococcose Cryptococcosis Kryptokokkose hrdo:pat_id_3536 Variabel Variabile Variable Variable Variable Variable Variável 1685 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Distomiasis Distomatose Distomatose Distomatose Distomatosi Distomatosis Distomatosis hrdo:pat_id_3537 Variabel Variabile Variable Variable Variable Variable Variável D016873 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Ehrlichiosis%5Bti%5D+OR+Ehrlichiosis%5Bmh%5D A48.8 1902 77361002 C0085399 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anaplasmose, granulozytäre humane Ehrlichiose Ehrlichiose, granulozytäre humane Ehrlichiosi Ehrlichiosis Ehrliquiose Erliquiosis hrdo:pat_id_3538 Variabel Variabile Variable Variable Variable Variable Variável D005368 10016674 neant B74 2034 C0016085 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Filariasis Filariasis (término genérico) Filariose Filariose Filariose (termo genérico) Filariosi hrdo:pat_id_3539 Variabel Variabile Variable Variable Variable Variable Variável D008271 10028427 B47 2583 410039003 95881004 C0024449 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Madura foot Madurafuß Maduramykose Pie de madura Pied de Madura Piede di Madura Micetoma Micetoma Micetoma Mycetoma Mycétome Myzetom hrdo:pat_id_3540 Variabel Variabile Variable Variable Variable Variable Variável D009855 D015827 10030314 10039202 neant B73 2737 240842000 38539003 C0029001 C0029002 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cecità dei fiumi Cegueira do rio Ceguera de los ríos Cécité des rivières Flussblindheit River blindness Onchocerciasis Onchocercose Onchozerkose Oncocerciose Oncocercosi Oncocercosis hrdo:pat_id_3541 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter D014120 10044269 neant B83.0 3343 406619001 C0040553 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Toxocariasis Toxocariasis Toxocariasis Toxocariose Toxocarose Toxocarosi hrdo:pat_id_3542 D014406 10045146 A21 3392 19265001 C0041351 disease Tularemia Tularemia Tularemia Tularemia Tularämie Tularémie hrdo:pat_id_3543 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 607859 C536924 neant D18.0 1063 254786000 C0346073 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Angioblastoma de Nakagawa Angioblastome de Nakagawa Nakagawa's Angioblastom Nakagawa's angioblastoma Angiom, büschelartiges Angioma a ''ciuffi'' Angioma cauliforme Angioma en racimo Angiome en touffes Tufted angioma hrdo:pat_id_3544 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Variabel Variabile Variable Variable Variable Variable Variável C537007 neant D18.0 2122 403983000 C1367420 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Emangioendotelioma kaposiforme Hemangio-endotelioma kaposiforme Hemangioendotelioma kaposiforme Hämangioendotheliom, kaposiformes Hémangio-endothéliome kaposiforme Kaposiform hemangioendothelioma hrdo:pat_id_3545 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 228550 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Infantile+%28myofibroma%5Bti%5D+OR+myofibromatosis%5Bti%5D+OR+myofibroma%5Btw%5D+OR+myofibromatosis%5Btw%5D%29 D21 2591 254146000 C0432284 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Infantile myofibromatosis Miofibromatose do lactente Miofibromatosi infantile Miofibromatosis infantil Myofibromatose infantile Myofibromatose, infantile hrdo:pat_id_3547 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance D18.1 2415 234095009 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Gefäßfehlbildung, lymphatische LM LM Linfangioma Linfangioma Lymphangiom Lymphangioma Lymphangiome Lymphatische Malformation (LM)     ML ML Malformação linfática Linfangioma Lymphatic malformation Lymphatische Fehlbildung Malformación linfática Malformation lymphatique Malformazione linfatica hrdo:pat_id_3549 Variabel Variabile Variable Variable Variable Variable Variável 256100 602088 604387 606966 611498 613159 613820 613824 614377 614817 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=kidney%2C+cystic%5Bmh%5D+%28nephronophthisis+OR+medullary+cystic+kidney%5Btw%5D%29+NOT+dominant Q61.5 655 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Autosomal recessive nephronophthisis Doença renal medular quística autossómica recessiva Nefronoftisi autosomica recessiva Nefronoptise do adolescente Nefronoptise infantil Nefronoptise juvenil Nefronoptise juvenil familiar Nefronoptise tipo 1 Nefronoptise tipo 2 Nefronoptise tipo 3 Nefronoptise tipo 4 Nefronoptisis juvenil Nephronophthise, autosomal-rezessive Néphronophtise autosomique récessive Renal medular quística autossómica recessiva, doença Autosomal recessive medullary cystic kidney disease Enfermedad del riñón quístico medular, autosómica recesiva Maladie kystique autosomique récessive de la médullaire rénale Malattia cistica della midollare renale, autosomica recessiva Nefronoptise autossómica recessiva Nierenkrankheit, medulläre zystische, autosomal-rezessive hrdo:pat_id_355 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance D005693 10017604 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=galactosemia%5BText+Word%5D+OR+galactosaemia%5BText+Word%5D+OR+galactosemias%5Btw%5D+OR+%22galactosemias%22%5BMeSH+Terms%5D E74.2 352 190745006 C0016952 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Galactosemia Galactosemia Galactosemia Galactosémie Galaktosämie Galattosemia hrdo:pat_id_3551 Variabel Variabile Variable Variable Variable Variable Variável 249660 256370 600995 603278 603965 607832 610725 613237 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Nephrotic+syndrome%2Fge+steroid+resistant+NOT+(sporadic%5Bti%5D+OR+steroid-depend*%5Bti%5D) N04 656 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Familial idiopathic nephrotic syndrome Nefrosi idiopatica, forma familiare Nefrótico idiopático, síndrome Nephrose, familiäre idiopathische Néphrose idiopathique familiale Síndrome nefrótico idiopático Familial idiopathic steroid-resistant nephrotic syndrome Nephrotisches Syndrom, idiopathisches steroid-resistentes, familiäre Form Sindrome nefrosica idiopatica steroido-resistente, forma familiare Syndrome néphrotique idiopathique familial cortico-résistant Síndrome nefrótico resistente aos esteróides Síndrome nefrótico, idiopático, resistente a esteroides, familiar hrdo:pat_id_3552 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 194080 D030321 10070179 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=denys-drash+syndrome%5Bti%5D+OR+Drash+syndrome%5Bti%5D+OR+denys-drash+syndrome%5Bmh%5D N04.1 220 236385009 C0950121 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Drash syndrome Drash, síndrome de Drash-Syndrom Sindrome di Drash Syndrome de Drash Síndrome de Drash Tumeur de Wilms - pseudohermaphrodisme Tumor de Wilms e pseudo-hermafroditismo Tumore di Wilms - pseudoermafroditismo Wilms Tumor mit Pseudohermaphroditismus Wilms tumor and pseudohermaphroditism Denys-Drash syndrome Denys-Drash-Syndrom Sindrome di Denys-Drash Syndrome de Denys-Drash Síndrome de Denys-Drash Síndrome de Denys-Drash hrdo:pat_id_3553 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=congenital%5Bti%5D+glycosylation%5Bti%5D+OR+carbohydrate+deficient+glycoprotein+syndrome E77.8 137 group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 CDG CDG CDG CDG Carbohydrate deficient glycoprotein syndrome Defeitos congénitos da glicosilação, síndrome Glicoproteínas deficientes em carboidratos, síndrome Glykosylierungs-Krankheit, kongenitale Kohlenhydrat-defizientes Glykoprotein-Syndrom Sindrome delle glicoproteine carenti in carboidrati Syndrome des glycoprotéines déficientes en hydrates de carbone Síndrome de glicoproteínas deficientes en carbohidratos Síndrome dos defeitos congénitos da glicosilação Síndrome glicoproteínas deficientes em carboidratos Anomalie congénitale de la glycosylation CDG-Syndrom Congenital disorder of glycosylation Difetto congenito della glicosilazione Síndrome das CDG (termo genérico) Trastorno congénito de la glicosilación hrdo:pat_id_3555 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 609016 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=3-hydroxyacyl+coa+dehydrogenases/df%5BMAJR%3Anoexp%5D E71.3 G60 5 237999008 C0342786 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Deficit di LCHAD Deficiência de LCHAD Déficit de LCHAD Déficit en LCHAD LCHAD deficiency LCHAD, deficiência de LCHAD-Mangel 3-Hydroxyacyl-CoA-Dehydrogenase, Langketten-, Mangel Deficit di 3-idrossiacil-CoA deidrogenasi degli acidi grassi a catena lunga Deficiência de 3-hidroxiacil-CoA desidrogenase de cadeias longas Déficit de 3-hidroxiacil-CoA deshidrogenasa de ácidos grasos de cadena larga Déficit en 3-hydroxyacyl-CoA déshydrogénase des acides gras à chaîne longue Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency hrdo:pat_id_3556 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 605899 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=nonketotic+hyperglycinemia+OR+glycine+encephalopathy%5Btw%5D E72.5 407 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Deficit di glicina sintasi Deficiência de glicina sintetase Encefalopatia da glicina Encefalopatia por glicina Glicina sintetase, deficiência de Glycin-Enzephalopathie Glycin-Synthase-Mangel Hyperglycinémie non cétosique Nonketotic hyperglycinemia Encéphalopathie glycinique Hiperglicinemia no cetósica Hiperglicinemia não-cetótica isolada Hyperglycinämie, isolierte nichtketotische Iperglicinemia isolata non chetotica Isolated nonketotic hyperglycinemia hrdo:pat_id_3557 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 606054 D056693 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Propionic+acidemia%5Btw%5D+OR+Propionic+aciduria%5Btw%5D E71.1 35 124718009 399149003 69080001 C0268579 C0311298 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Deficit di propionil-CoA carbossilasi Deficiência de propionil-CoA carboxilase Déficit de propionil-CoA carboxilasa Déficit en propionyl-CoA carboxylase Glicinemia cetótica Glicinemia chetosica Glicinemia con cetosis Glycinämie, ketotische Glycinémie cétosique Ketotic glycinemia Propionazidurie Propionil-CoA carboxilase, deficiência de Propionyl-CoA carboxylase deficiency Propionyl-CoA-Carboxylase-Mangel Acidemia propionica Acidemia propiónica Acidémia propiónica Acidémie propionique Propionazidämie Propionic acidemia hrdo:pat_id_3558 Normal Normal Normal Normal Normal Normal Normale Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=chronic+progressive+external+ophthalm*%5Bti%5D+OR+ophthalmoplegia%2C+chronic+progressive+external%5Bmh%3Anoexp%5D+NOT+Kearns+Say*%5Ball%5D H49.4 663 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Esporádica Esporádico Herencia mitocondrial Hérédité mitochondriale Mitochondrial inheritance Mitochondrial inheritance Mitochondriale Vererbung Modo de hereditariedade mitocondrial Sporadic Sporadic Sporadica Sporadique Sporadisch Trasmissione mitocondriale disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CPEO a trasmissione materna CPEO de herencia materna CPEO de transmission maternelle CPEO, maternal-vererbte Maternally-inherited CPEO Maternally-inherited chronic progressive external ophthalmoplegia Oftalmoplegia esterna progressiva cronica a trasmissione materna Oftalmoplejía externa progresiva crónica de herencia materna Ophtalmoplégie externe progressive chronique de transmission maternelle Maternally-inherited progressive external ophthalmoplegia Oftalmoplegia esterna progressiva a trasmissione materna Oftalmoplegia externa progressiva Oftalmoplejía externa progresiva de herencia materna Ophtalmoplégie externe progressive de transmission maternelle Ophthalmoplegie, chronische externe progressive, maternal-vererbte hrdo:pat_id_3559 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 116920 266265 612840 D018370 neant D84.8 2968 77358003 C0242597 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown DAL Déficit d'adhérence des leucocytes Déficit d'adhérence leucocytaire Déficit d'adhésion des leucocytes LAD LAD LAD LAD LAD Leukozyten-Adhäsions-Defizienz Deficit di adesione leucocitaria Deficiência na adesão leucocitária (LAD) Déficit d'adhésion leucocytaire Déficit de adhesión leucocitaria Leukocyte adhesion deficiency Leukozytenadhäsionsdefekt hrdo:pat_id_3560 Variabel Variabile Variable Variable Variable Variable Variável 155600 155601 608035 609048 613099 613972 615134 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=malignant+melanoma%5Bti%5D+(familial+OR+congenital+OR+genetics+OR+hereditary+OR+inherited%5Btw%5D)+OR+(skin+neoplasms%2Fge+melanoma%2Fge) C43 618 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Familial melanoma Melanom, familiäres Melanoma familiar Melanoma familiar Melanoma familiare Mélanome malin familial hrdo:pat_id_3562 neant G40.1 309 group of phenomes Epilepsia parcial familiar Epilepsia parcial familiar Epilepsie partielle familiale Epilepsie, familiäre partielle Epilessia parziale familiare Familial partial epilepsy hrdo:pat_id_3563 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 137700 137750 137760 231300 600975 601682 602429 603383 606657 606689 608695 608696 609745 609887 610535 611274 613085 613086 613100 615141 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=glaucoma/cn%5Bmajr%5D+OR+%28glaucoma%5Bmajr%5D+AND+pigmentation+disorders%5Bmajr%5D%29 359 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Glaucoma ereditario Glaucoma hereditario Glaucoma hereditário Glaucome familial Glaukom, hereditäres Hereditary glaucoma hrdo:pat_id_3564 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 231670 C536833 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=metabolism,+inborn+errors%5Bmajr%5D+AND+%28%22glutaric+aciduria%22%5Btw%5D+OR+glutaricaciduria%5Btw%5D%29 E72.3 25 360416003 76175005 C0268595 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Aciduria glutarica, tipo 1 Aciduria glutárica tipo 1 Acidurie glutarique type 1 Acidémie glutarique type 1 Acidúria glutárica tipo 1 Deficit di glutaril-CoA deidrogenasi Déficit de glutaril-CoA deshidrogenasa Déficit en glutaryl-Coenzyme A déshydrogénase GA1 GA1 GCDHD GCDHD Glutarazidurie Typ 1 Glutarazidämie Typ 1 Glutaric acidemia type 1 Glutaric aciduria type 1 Glutaryl-Coenzyme A dehydrogenase deficiency Acidemia glutarica, tipo 1 Acidemia glutárica tipo 1 Deficiência de glutaril-CoA desidrogenase Déficit en glutaryl-CoA déshydrogénase Glutaryl-CoA dehydrogenase deficiency Glutaryl-CoA-Dehydrogenase-Mangel hrdo:pat_id_3565 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance D000742 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=congenital%5Bti%5D+dyserythropoietic%5Bti%5D+%28anaemia%5Bti%5D+OR+anemia%5Bti%5D%29+OR+anemia%2C+dyserythropoietic%2C+congenital%5Bmh%5D D64.4 85 52951008 C0002876 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 CDA CDA CDA CDA CDA CDA Anemia diseritropoietica congenita Anemia diseritropoiética congénita Anemia diseritropoyética, congénita Anämie, dyserythropoetische kongenitale Anémie dysérythropoïétique congénitale Congenital dyserythropoietic anemia hrdo:pat_id_3566 113400 Q87.8 1246 malformation syndrome Biemond syndrome Biemond-Syndrom Sindrome di Biemond Syndrome de Biemond Síndrome de Biemond Brachidattilia - nistagmo - atassia cerebellare Brachydactylie - nystagmus - ataxie cérébelleuse Brachydactyly - nystagmus - cerebellar ataxia Brachydaktylie - Nystagmus - zerebelläre Ataxie Braquidactilia - nistagmo - ataxia cerebelar Síndrome de Biemond hrdo:pat_id_3567 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 215100 222765 600121 D018902 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22rhizomelic+chondrodysplasia+punctata%22%5BText+Word%5D+OR+%22chondrodysplasia+punctata%2C+rhizomelic%22%5BMeSH+Terms%5D Q77.3 177 56692003 C0282529 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Chondrodysplasia punctata, rhizomeler Typ Chondrodysplasie ponctuée rhizomélique Condrodisplasia pontuada tipo rizomélico Condrodisplasia punctata, tipo rizomélico Condrodisplasia puntata, tipo rizomelico Rhizomelic chondrodysplasia punctata hrdo:pat_id_3568 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 250250 C535916 10069596 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Cartilage+hair+hypoplasia+OR+%28%28osteochondrodysplasias+OR+chondrodysplasia%5Btw%5D%29+metaphyseal%29 Q78.8 175 7720002 C0220748 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Autosomal recessive metaphyseal chondrodysplasia Chondrodysplasie métaphysaire de McKusick Chondrodysplasie, metaphysäre, autosomal-rezessive Condrodisplasia metafisaria, autosomica recessiva Condrodisplasia metafisaria, forma recesiva Condrodisplasia metafisaria, tipo McKusick Condrodisplasia metafisária tipo McKusick Hipoplasia cartilagem-cabelo Hypoplasie cartilage-cheveux McKusick-Chondrodysplasie Metaphyseal chondrodysplasia, McKusick type Cartilage-hair hypoplasia Chondrodysplasie métaphysaire autosomique récessive Condrodisplasia metafisária tipo recessivo Hipoplasia de cartílago-pelo Ipoplasia cartilagine-capelli Knorpel-Haar-Hypoplasie hrdo:pat_id_3569 D003483 10011692 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=cutis+laxa%5Bti%5D+OR+cutis+laxa%5Bmajr%5D Q82.8 209 58588007 C0010495 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Esporádica Esporádico Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X Sporadic Sporadic Sporadica Sporadique Sporadisch X-chromosomal-rezessiv X-linked recessive X-linked recessive group of phenomes <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cutis laxa Cutis laxa Cutis laxa Cutis laxa Cutis laxa Cutis laxa hrdo:pat_id_357 Variabel Variabile Variable Variable Variable Variable Variável 261750 300559 306000 613027 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(GSD%5Btw%5D+OR+Glycogen+Storage+Disease)+(type+via%5Btw%5D+OR+Type+ix%5Btw%5D+OR+(phosphorylase+kinase)+deficiency) E74.0 370 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Enfermedad de almacenamiento de glucógeno por déficit de PhK Enfermedad de almacenamiento de glucógeno tipo 9 Enfermedad de almacenamiento de glucógeno tipo IX GSD Typ 9 GSD Typ IX GSD da deficit di fosforilasi chinasi GSD due to phosphorylase kinase deficiency GSD durch Phosphorylasekinase-Mangel GSD par déficit en PhK GSD par déficit en phosphorylase kinase GSD por déficit de fosforilasa quinasa GSD tipo 9 GSD tipo IX GSD type 9 GSD type 9 GSD type IX GSD type IX GSD, tipo 9 GSD, tipo IX Glicogenosi da deficit di PhK Glicogenosi, tipo 9 Glicogenosi, tipo IX Glucogenosis por déficit de PhK Glucogenosis por déficit de fosforilasa quinasa Glucogenosis tipo 9 Glucogenosis tipo IX Glycogen storage disease due to PhK deficiency Glycogen storage disease type 9 Glycogen storage disease type IX Glycogenosis due to phosphorylase kinase deficiency Glycogenosis type 9 Glycogenosis type IX Glycogénose par déficit en PhK Glycogénose type 9 Glycogénose type IX Glykogen-Speicherkrankheit IX Glykogen-Speicherkrankheit Typ 9 Glykogenose Typ 9 Glykogenose Typ IX Glykogenose durch PhK-Mangel Gycogenosis due to PhK deficiency Malattia da deposito di glicogeno da deficit di PhK Malattia da deposito di glicogeno da deficit di fosforilasi chinasi Malattia da deposito di glicogeno, tipo 9 Malattia da deposito di glicogeno, tipo IX Enfermedad de almacenamiento de glucógeno por déficit de fosforilasa quinasa Glicogenose tipo 6A, por deficiência de fosforilase cinase Glicogenosi da deficit di fosforilasi chinasi Glycogen storage disease due to phosphorylase kinase deficiency Glycogénose par déficit en phosphorylase kinase Glykogenose durch Phosphorylase-Kinase-Mangel hrdo:pat_id_3570 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 201450 C536038 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Acyl+CoA+Dehydrogenase%2Fdf+OR+MCAD+deficiency%5BTw%5D+OR+(medium+CHAIN%5BTW%5D+ACYL+CoA+Dehydrogenase+deficiency%5BTw%5D))+humans E71.3 42 128596003 C0220710 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Deficiencia de MCAD Deficit di MCAD Deficiência de MCAD Déficit de MCAD Déficit en MCAD MCAD deficiency MCAD, deficiência de MCAD-Mangel MCADD MCADD MCADD MCADD Acyl-CoA-Dehydrogenase-Mangel, mittelkettige Deficit di acil-CoA deidrogenasi a catena media Deficiência de acil-CoA desidrogenase de cadeias médias Déficit de acil-CoA deshidrogenasa de cadena media Déficit en acyl-CoA déshydrogénase des acides gras à chaîne moyenne Medium chain acyl-CoA dehydrogenase deficiency hrdo:pat_id_3572 612933 614128 neant E74.4 2364 237982007 disease Deficit di LDH Déficit de LDH Déficit en LDH GSD da deficit di lattato deidrogenasi GSD due to lactate dehydrogenase deficiency GSD par déficit en lactate déshydrogénase GSD por déficit de lactato deshidrogenasa Glicogenosi da deficit di lattato deidrogenasi Glucogenosis por déficit de lactato deshidrogenasa Glycogenosis due to lactate dehydrogenase deficiency LDH deficiency LDH-Mangel Deficiência de lactato desidrogenase Enfermedad de almacenamiento de glucógeno por déficit de lactato deshidrogenasa Glycogen storage disease due to lactate dehydrogenase deficiency Glycogènose par déficit en lactate déshydrogénase Laktat-Dehydrogenase-Mangel Malattia da deposito di glicogeno causata dal deficit di lattato deidrogenasi hrdo:pat_id_3573 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 612934 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=phosphoglucomutase/df%5Bmh%5D E74.0 711 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficit di fosfoglucomutasi 1 Déficit de fosfoglucomutasa 1 Déficit en phosphoglucomutase 1 Enfermedad de almacenamiento de glucógeno tipo 14 GSD Typ 14 GSD XIV GSD da deficit di fosfoglucomutasi GSD due to phosphoglucomutase deficiency GSD par déficit en phosphoglucomutase GSD por déficit de fosfoglucomutasa GSD tipo 14 GSD type 14 GSD, tipo 14 GSDXIV GSDXIV GSDXIV Glicogenosi da deficit di fosfoglucomutasi Glicogenosi, tipo 14 Glucogenosis por déficit de fosfoglucomutasa Glucogenosis tipo 14 Glycogen storage disease type 14 Glycogenosis due to phosphoglucomutase deficiency Glycogénose type 14 Glykogen-Speicherkrankheit Typ 14 Malattia da deposito di glicogeno, tipo 14 Phosphoglucomutase 1 deficiency Phosphoglukomutase-Mangel Type 14 glycogenosis Deficiência de fosfoglucomutase Enfermedad de almacenamiento de glucógeno por déficit de fosfoglucomutasa Glycogen storage disease due to phosphoglucomutase deficiency Glycogénose par déficit en phosphoglucomutase Glykogenose Typ 14 Malattia da deposito di glicogeno dovuta a deficit di fosfoglucomutasi hrdo:pat_id_3574 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 270400 D019082 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Smith+Lemli+Opitz%5Btw%5D+OR+smith+lemli+opitz+syndrome%5Bmh%5D Q87.1 818 43929004 C0175694 C2713347 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 7-Dehydrocholesterinreduktase-Mangel 7-dehydrocholesterol reductase deficiency 7-desidrocolesterol redutase, deficiência de Deficit di 7-deidrocolesterolo reduttasi Deficiência de 7-desidrocolesterol redutase Déficit de 7-deshidrocolesterol-reductasa Déficit en 7-déhydrocholestérol réductase RSH syndrome RSH-Syndrom SLOS SLOS SLOS SLOS Sindrome RSH Syndrome RSH Syndrome SLO Síndrome RSH Sindrome di Smith-Lemli-Opitz Smith-Lemli-Opitz syndrome Smith-Lemli-Opitz-Syndrom Syndrome de Smith-Lemli-Opitz Síndrome de Smith-Lemli-Opitz Síndrome de Smith-Lemli-Opitz (SLO) hrdo:pat_id_3577 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 613163 C535407 neant E72.8 2066 237941007 C0342708 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficit di GABA transaminasi Deficiência de GABA transaminase Déficit en gaba transaminase GABA transaminase, deficiência de GABA-Transaminase-Mangel Gaba transaminase deficiency Deficit di acido gamma aminobutirrico-transaminasi Deficiência de ácido gama-aminobutírico transaminase Déficit de gamma aminobutírico ácido transaminasa Déficit en gamma aminobutyrique acide transaminase Gamma aminobutyric acid transaminase deficiency Gamma-Aminobuttersäure-Transaminase-Mangel hrdo:pat_id_3578 261515 C536663 neant E71.3 300 238068007 C0342870 disease Bifunctional enzyme deficiency Bifunktionelles Enzym-Mangel Deficit dell'enzima bifunzionale Deficiência de enzima bifuncional Déficit de enzima bifuncional Déficit en enzyme bifonctionnelle hrdo:pat_id_358 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável C538421 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hallervorden-spatz+syndrome%5Bmajr%5D G23.0 385 C2931845 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant group of phenomes 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Distrofia neuroaxonal infantil tardia Doença de Hallervorden-Spatz Hallervorden-Spatz, doença de Hallervorden-Spatz-Syndrom NBIA NBIA NBIA NBIA Neurodegenerescência associada à pantotenato cinase Neuroferritinopatia (doença dos ganglios da base de início na idade adulta) Neuroferritinopatia (doença dos gânglios da base de início na idade adulta) Neurodegeneración con acúmulo cerebral de hierro Neurodegeneration mit Eisenspeicherung im Gehirn Neurodegeneration with brain iron accumulation Neurodegenerazione con accumulo cerebrale di ferro Neurodegerescência com acumulação cerebral de ferro (NBIA) Neurodégénérescence avec surcharge cérébrale en fer hrdo:pat_id_3582 neant T63.0 1939 disease Avvelenamento da vipera "ferro di lancia" Envenenamento pela víbora cabeça-de-lança de Martinica Envenenamiento por mordedura de víbora en hierro de lanza Envenimation par la vipère fer-de-lance Envenomization by the Martinique lancehead viper Avvelenamento da bothrops lanceolatus Envenenamento por Bothrops lanceolatus Envenenamiento por Bothrops lanceolatus Envenimation par Bothrops Lanceolatus Envenomization by bothrops lanceolatus Vergiftung durch Bothrops lanceolatus hrdo:pat_id_3584 C536780 2284 C2931320 disease Immunodeficiencia primaria de células T Immunodeficienza primitiva delle cellule T Immunodéficience primitive en cellules T Imunodeficiência de células T primária Primary T cell immunodeficiency T-Zell-Immundefekt, primäre Form hrdo:pat_id_3586 252270 601626 D015470 10000880 neant C92.0 519 103691009 17788007 359648001 413443009 91861009 C0023467 C1879321 group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 AML AML AML AML Acute myelogenous leukemia Acute non-lymphoblastic leukemia LAM LANL LMA Leucemia acuta mieloide Leucemia mieloblástica aguda Leucemia mielogena acuta Leucemia mielóide aguda (termo genérico) Leucemia no linfoblástica aguda Leucemia non linfoblastica acuta Leucémie aiguë myéloblastique Leucémie aiguë non lymphoblastique Leukämie, akute nicht-lymphoblastische Acute myeloid leukemia Leucemia aguda não-linfoblástica (termo genérico) Leucemia mieloide acuta Leucemia mieloide aguda Leucémie aiguë myéloïde Leukämie, akute myeloische hrdo:pat_id_3590 613118 neant D68.5 82 disease Hereditary thrombophilia due to congenital antithrombin 3 deficiency Thrombophilie héréditaire due au déficit congénital en antithrombine 3 Antithrombin-Mangel, kongenitaler Deficit congenito di antitrombina Deficiência congénita de antitrombina Hereditary thrombophilia due to congenital antithrombin deficiency Thrombophilie héréditaire due au déficit congénital en antithrombine Trombofilia hereditaria por déficit congénito de antitrombina hrdo:pat_id_3595 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D015043 D015408 10017852 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Zollinger+Ellison%5Bti%5D+OR+zollinger+ellison+syndrome%5Bmh%5D E16.4 913 16189002 302824004 53132006 C0017150 C0043515 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Gastrinom Gastrinoma Gastrinoma Gastrinoma Gastrinome Sindrome di Zollinger-Ellison Syndrome de Zollinger-Ellison Síndrome de Zollinger-Ellison Síndrome de Zollinger-Ellison Zollinger-Ellison syndrome Zollinger-Ellison-Syndrom hrdo:pat_id_3596 Variabel Variabile Variable Variable Variable Variable Variável C531629 D001447 10004080 A07.0 1223 105638003 56722001 57725006 C0004692 C0276786 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Balantidienruhr Balantidiose Balantidiose Balantidiosi Balantidiosis Balantidiosis Ciliary dysentery Disenteria ciliar Disentería ciliar Dissenteria ciliare Dysenterie ciliaire Balantidiase Balantidiasi Balantidiasis Balantidiasis Balantidiose Balantidíase hrdo:pat_id_3599 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 187950 601977 614521 D013920 10015493 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=essential+thrombocythemia%5Bti%5D+OR+primary+thrombocytosis%5Bti%5D+OR+thrombocythemia%2C+hemorrhagic%5Bmh%5D D47.3 3318 109994006 128844009 C0040028 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 ET ET ET ET Essential thrombocytosis Thrombocytose essentielle Thrombozytose, essentielle Trombocitosi essenziale Trombocitosis esencial Essential thrombocythemia Thrombocytémie essentielle Thrombozythämie, essentielle Trombocitemia esencial Trombocitemia essencial Trombocitemia essenziale hrdo:pat_id_360 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 308300 D007184 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%22incontinentia+pigmenti%22%5BMeSH+Terms%5D+OR+Incontinentia+pigmenti%5BTI%5D%29+NOT+%28ito%5Btw%5D+OR+achromians%5Btw%5D+OR+achromiens%5Btw%5D%29 Q82.3 464 367520004 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Bloch-Sulzberger syndrome Bloch-Sulzberger, síndrome de Bloch-Sulzberger-Syndrom Incontinentia pigmenti Typ 2 Incontinentia pigmenti tipo 2 Incontinentia pigmenti type 2 Incontinentia pigmenti type 2 Incontinentia pigmenti, tipo 2 Sindrome di Bloch-Sulzberger Syndrome de Bloch-Sulzberger Síndrome de Bloch-Sulzberger Síndrome de Bloch-Sulzberger Incontinentia pigmenti Incontinentia pigmenti Incontinentia pigmenti Incontinentia pigmenti Incontinentia pigmenti Incontinência pigmentar hrdo:pat_id_3600 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 145980 145981 600740 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hypercalcemia%5Bmajr%5D+AND+%28%22familial+hypocalciuric+hypercalcemia%22+OR+%22familial+benign+hypercalcemia%22%29 E83.5 405 237885008 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown FBH FBH FBH FBHH FBHH FBHH FHH FHH FHH Familial benign hypercalcemia Familial benign hypocalciuric hypercalcemia Hipercalcemia benigna familiar Hipercalcemia familiar benigna Hipercalcemia hipocalciúrica familiar benigna Hypercalcémie bénigne familiale Hypercalcémie hypocalciurique bénine familiale Hyperkalzämie, benigne familiäre Hyperkalzämie, idiopathische infantile Ipercalcemia benigna familiare Ipercalcemia idiopatica infantile Familial hypocalciuric hypercalcemia Hipercalcemia hipocalciúrica familiar Hipercalcemia hipocalciúrica familiar Hypercalcémie hypocalciurique familiale Hyperkalzämie, familiäre hypokalziurische Ipercalcemia ipocalciurica familiare hrdo:pat_id_361 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614290 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(chromosomes,+human,+pair+18%5Bmh%5D+OR+chromosome+18%5Btw%5D+OR+18p%5Btw%5D)+(isochromosomes+OR+Isochromosome+OR+tetrasomy) Q99.8 3307 malformation syndrome 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Isochromosom 18p Isochromosome 18p Isochromosome 18p Isocromosoma 18p Isocromosoma 18p Isocromossoma 18p Tetrasomia 18p Tetrasomie 18p Tetrasomy 18p Tetrasomía 18p Tetrassomia 18p Tétrasomie 18p hrdo:pat_id_3611 Variabel Variabile Variable Variable Variable Variable Variável 2194 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Anti-HLA hyperimmunization Anti-HLA-Hyperimmunisierung Hiperimunização anti-HLA Hiperinmunización anti-HLA Hyper-immunisation anti-HLA Iperimmunizzazione anti-HLA hrdo:pat_id_3612 500002 neant E10 G71.3 2596 disease Miopatia - diabetes mellitus Miopatia e diabete mellito Miopatía con diabetes mellitus Myopathie - Diabetes mellitus Myopathie - diabète sucré Myopathy and diabetes mellitus hrdo:pat_id_3613 520100 K59.1 1670 disease Chronic diarrhea with villous atrophy Diarrea cronica con atrofia dei villi Diarrea crónica con atrofia villositaria Diarreia crónica com atrofia das vilosidades Diarrhoe, chronische mit Zottenatrophie Diarrhée chronique - atrophie villositaire hrdo:pat_id_3615 312060 C537241 neant D84.1 2966 81166004 C0398762 disease Deficit di properdina Deficiência de properdina Déficit en properdine Properdin deficiency Properdin-Mangel Properdina, déficit de hrdo:pat_id_3616 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 136680 D052159 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28kidney+diseases%5Bmajr%5D+OR+urogenital+abnormalities%5Bmajr%5D%29+AND+frasier%5Btw%5D N04.1 347 445431000 C0950122 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Frasier syndrome Frasier-Syndrom Sindrome di Frasier Syndrome de Frasier Síndrome de Frasier Síndrome de Frasier hrdo:pat_id_3618 Variabel Variabile Variable Variable Variable Variable Variável C536362 D005871 10050251 neant D36.0 160 207036003 238809002 C0017531 C2931179 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Angiofollicular ganglionic hyperplasia Angiofollicular lymph hyperplasia Castleman-Lymphom Ganglienhyperplasie, angiofollikuläre Hamartoma linfóide Hiperplasia ganglionar angiofolicular Hyperplasie ganglionnaire angiofolliculaire Hyperplasie lymphoïde angiofolliculaire Iperplasia ganglionaria angiofollicolare Iperplasia linfatica angiofollicolare Linfoma benigno Pseudotumeur de Castleman Castleman disease Castleman-Krankheit Doença de Castleman Enfermedad de Castleman Maladie de Castleman Malattia di Castleman hrdo:pat_id_3619 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 169600 Q82.8 2841 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Benign chronic familial pemphigus of Hailey-Hailey Doença de Hailey-Hailey Hailey-Hailey disease Hailey-Hailey disease Hailey-Hailey, doença de Hailey-Hailey-Krankheit Maladie de Hailey-Hailey Malattia di Hailey-Hailey Pemfigo benigno cronico familiare di Hailey-Hailey Pemphigus benignus chronicus familiaris (Hailey-Hailey) Pemphigus bénin chronique familial de Hailey-Hailey Pénfigo benigno crónico familiar de Hailey-Hailey Familial benign chronic pemphigus Pemfigo benigno cronico familiare Pemphigus bénin chronique familial Pemphigus, benigner chronischer familiärer Pénfigo benigno crónico familiar Pênfigo benigno crónico familiar de Hailey-Hailey hrdo:pat_id_362 Normal Normal Normal Normal Normal Normal Normale Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter C531723 D007713 10023463 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22klinefelter+syndrome%22%5BMeSH+Terms%5D+OR+Klinefelter+syndrome%5BText+Word%5D Q98.0 Q98.1 Q98.2 Q98.4 484 268300003 405769009 C0022735 C2930823 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 47 XXY, síndrome 47,XXY syndrome 47,XXY-Syndrom Sindrome 47,XXY Syndrome 47,XXY Síndrome 47 XXY Klinefelter syndrome Klinefelter-Syndrom Sindrome di Klinefelter Syndrome de Klinefelter Síndrome de Klinefelter Síndrome de Klinefelter hrdo:pat_id_3621 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 179800 267300 602722 611590 10045224 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=acidosis,+renal+tubular%5Bmh%5D+distal%5Btw%5D+OR+distal%5Bti%5D+renal+tubular+acidosis%5Btw%5D N25.8 18 236461000 86210009 C0259810 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Acidose distal primária familiar Acidose distale primitive familiale Acidose tubulaire rénale type 1 Acidosi tubulare renale, tipo 1 Familial distal primary acidosis Renal tubular acidosis type 1 dRTA dRTA Acidose renal tubular distal Acidose tubulaire rénale distale Acidosi renale tubulare distale Acidosis tubular renal distal Azidose, renale tubuläre, distale Distal renal tubular acidosis hrdo:pat_id_3625 143870 607258 neant E83.5 2197 disease Hipercalciúria idiopática Hipercalciúria idiopática Hypercalciurie idiopathique Hyperkalziurie, idiopathische Idiopathic hypercalciuria Ipercalciuria idiopatica hrdo:pat_id_3626 D007691 10027104 neant Q61.5 1309 236443009 C0022681 morphological anomaly Cacchi-Ricci disease Ectasia canalicolare precaliceale Ectasia canalicular precalicial Ectasia canalicular pré-calicial Ectasies canaliculaires précalicielles Enfermedad de Cacchi-Ricci MSK MSK MSK MSK Maladie de Cacchi-Ricci Malattia di Cacchi-Ricci Markschwammniere Precalicial canalicular ectasia Rim espongiforme medular Tubuloektasie, präkalizielle Cacchi-Ricci-Syndrom Doença de Cacchi-Ricci Medullary sponge kidney Rein en éponge Rene con midollare a spugna Riñón esponjoso medular hrdo:pat_id_363 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 268050 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Mental+Retardation%5Bti%5D+(Retin*%5Bti%5D+OR+chorioretin*%5Btw%5D)+Microcephaly)+OR+(Mirhosseini+Holmes+Walton%5Btw%5D) Q87.8 3084 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Morhosseini-Holmes-Walton, síndrome de Pigmentary retinopathy - intellectual deficit Pigmentretinopathie - Intelligenzminderung Retinopatia pigmentosa - ritardo mentale Rétinite pigmentaire - déficit intellectuel Síndrome de Morhosseini-Holmes-Walton Mirhosseini-Holmes-Walton syndrome Mirhosseini-Holmes-Walton-Syndrom Retinopatia pigmentar - atraso mental Sindrome di Morhosseini-Holmes-Walton Syndrome de Mirhosseini-Holmes-Walton Síndrome de Morhosseini-Holmes-Walton hrdo:pat_id_3630 neant Q82.5 2611 disease Amartoma lineare Hamartoma linear, síndrome de Hamartome de forme linéaire Linear hamartoma syndrome Lineares Hamartom-Syndrom Síndrome de hamartoma lineal Síndrome de hamartoma linear Linear verrucous nevus syndrome Nevus verruqueux de forme linéaire Sindrome del nevo verrucoso lineare Syndrom des linearen verrukösen Naevus Síndrome de nevus epidérmico verrucoso lineal Síndrome nevo linear hrdo:pat_id_3631 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D008947 10027754 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%28%22mixed+connective+tissue+disease%22%5BTw%5D+OR+Sharp+syndrome%5BTw%5D%29+NOT+Medline%5BSB%5D%29+OR+%22mixed+connective+tissue+disease%22%5BMH%5D M35.1 809 398021003 C0026272 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Doença mista do tecido conjuntivo MCTD Mista do tecido conjuntivo, doença Sharp syndrome Sharp-Syndrom Sindrome di Sharp Syndrome de Sharp Síndrome de Sharp Connectivite mixte Enfermedad mixta del tejido conectivo Malattia mista del tessuto connettivo Mischkollagenose Mixed connective tissue disease Síndrome de Sharp hrdo:pat_id_3632 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant G24.3 G24.4 G24.5 G24.8 1866 445006008 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Dystonie localisée Distonia focal Distonia focale Distonía focal Dystonie focale Dystonie, fokale Focal dystonia hrdo:pat_id_3637 Normal Normal Normal Normal Normal Normal Normale Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 161400 605841 609039 612851 614250 D009290 10028713 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=narcolepsy%5Bmajr%5D+OR+Narcolepsy%5Bti%5D G47.4 2073 193042000 60380001 C0027404 C0751362 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Gélineau disease Maladie de Gélineau Narcolepsia - cataplexia Narkolepsie mit Kataplexie Doença de Gelineau Enfermedad de Gelineau Gelineau-Krankheit Narcolepsie-Cataplexie Narcolepsy-cataplexy Narcolessia-cataplessia hrdo:pat_id_364 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300219 310400 C538647 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28myopathies%2C+structural%2C+congenital%5Bmh%5D+OR+myopathy%5Bti%5D%29+%28myotubular%5Btw%5D+OR+centronuclear%5Btw%5D%29 G71.2 596 46804001 C0410203 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Miopatia centronuclear Miopatia miotubulare Miopatía miotubular Myopathie congénitale myotubulaire Myotubular myopathy Myotubuläre Myopathie XLCNM XLCNM XLCNM XLCNM XLCNM XLMTM XLMTM XLMTM XLMTM XLMTM Miopatia centronucleare legata all'X Miopatia miotubular Miopatía centronuclear ligada al X Myopathie centronucléaire liée à l'X Myopathie, zentronukleäre, X-chromosomale X-linked centronuclear myopathy hrdo:pat_id_3640 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Variabel Variabile Variable Variable Variable Variable Variável 271930 500003 neant G23.2 1576 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Esporádica Esporádico Herencia mitocondrial Hérédité mitochondriale Mitochondrial inheritance Mitochondrial inheritance Mitochondriale Vererbung Modo de hereditariedade mitocondrial Sporadic Sporadic Sporadica Sporadique Sporadisch Trasmissione mitocondriale disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Degeneración estriatonígrica infantil Degeneration, infantile stratonigrale Degenerazione striatonigra infantile Degenerescência do corpo estriado, familiar Dégénérescence striatonigrique de l'enfant IBSN IBSN IBSN Infantile striatonigral degeneration Infantile striatonigral necrosis Necrosi striatonigra infantile Nécrose striatonigrique de l'enfant Degenerescência estriato-nígrica do lactente Infantile bilateral striatal necrosis Necrosi striatale bilaterale infantile Necrosis estriatal bilateral infantil Nécrose striatale bilatérale de l'enfant Striatonigrale Nekrose, infantile hrdo:pat_id_3641 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta C544351 D054970 neant G90.3 441 84438001 C0393911 C2931939 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Bradbury-Eggleston syndrome Bradbury-Eggleston-Syndrom Disautonomia pura Disautonomía pura Dysautonomie pure Dysautonomie pure idiopathique Dysautonomie pure primitive FAP FAP Hipotensión ortostática idiopática Hypotension, idiopathische orthostatische Idiopathic orthostatic hypotension Insuffisance autonome progressive Ipotensione ortostatica idiopatica Orthostatischen Hypotension, idiopathische PAF PAF PAF PAF Pure dysautonomia Pure idiopatic dysautonomia Sindrome di Bradbury-Eggleston Syndrome de Bradbury-Eggleston Síndrome de Bradbury-Eggleston Dysautonomie, reine Fallo autonómico puro Falência autonómica pura Hypotension orthostatique idiopathique Insufficienza pura del sistema autonomo Pure autonomic failure hrdo:pat_id_3643 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 128100 602554 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Idiopathic+torsion+dystonia%5Bti%5D+OR+dystonia+musculorum+deformans%5Bmh%5D G24.1 256 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 DYT1 DYT1 Distonia de Oppenheim Distonia deformante dei muscoli Distonia di Oppenheim Distonia idiopatica DYT1 Distonia idiopática DYT1 Distonia muscular deformante Distonia predominantemente generalizada Distonia primária Distonía de Oppenheim Distonía de torsión idiopática Distonía de torsión primaria Distonía idiopática DYT1 Distonía primaria Dystonia musculorum deformans Dystonie d'Oppenheim Dystonie généralisée primaire à début précoce Dystonie idiopathique DYT1 Dystonie idiopathique de torsion Dystonie musculaire déformante Dystonie musculorum deformans Dystonie primaire à début précoce Dystonie, idiopathische (DYT1) EOTD EOTD Early-onset generalized torsion dystonia Early-onset primary dystonia Idiopathic dystonia Idiopathic torsion dystonia Oppenheim's dystonia Oppenheim-Dystonie Distonia de torção idiopática Distonia di torsione a esordio precoce Distonía de torsión de aparición temprana Dystonie de torsion à début précoce Early onset torsion dystonia Torsionsdystonie, früh beginnende hrdo:pat_id_3644 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta C537968 10069646 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Camptocorm*+OR+bent+spine+syndrome%5Btw%5D M43.8 1320 13534001 C0264162 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Camptocormism Camptocormisme Camptocormismo Camptocormismo Camptocormismo Kamptokormia Camptocormia Camptocormia Camptocormia Camptocormia Camptocormie Kamptokormie hrdo:pat_id_3647 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 250100 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=leukodystrophy%2C+metachromatic%5Bmh%5D+AND+pseudodeficiency%5Btw%5D E75.2 751 disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Pseudo-deficiência de arilsulfatase A Pseudo-déficit de arilsulfatasa A Pseudo-déficit en arylsulfatase A Pseudoarylsulfatase A deficiency Pseudoarylsulfatase A-Mangel Pseudodeficit di arilsulfatasi A hrdo:pat_id_3650 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 308940 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=leiomyomatosis+%28Alport%5Bti%5D+OR+hereditary+nephritis%5Bmh%5D%29 Q87.8 1018 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Microdélétion Xq22.3 Mikrodeletionssyndrom Xq22.3 Sindrome da microdelezione Xq22.3 Xq22.3 microdeletion syndrome Leimiomatose difusa - síndrome de Alport Leiomiomatosi diffusa legata all'X - sindrome di Alport Syndrome d'Alport lié à l'X - léiomyomatose diffuse Síndrome de Alport - leiomiomatosis difusa ligada al X X-chromosomale diffuse Leiomyomatose - Alport-Syndrom X-linked diffuse leiomyomatosis - Alport syndrome hrdo:pat_id_3651 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601764 605751 607745 612627 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28epilepsy%5Bmajr%3Anoexp%5D+OR+convulsions%5Bmajr%3Anoexp%5D%29+AND+child%5Bmh%5D+AND+benign%5Bti%5D G40.3 306 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown BFIE BFIE BFIS BFIS Benign familial infantile convulsions Benign familial infantile epilepsy Convulsiones infantiles benignas familiares Epilepsia benigna do lactente, familiar Epilepsie infantile bénigne familiale Epilepsie, benigne familiäre infantile Epilessia benigna infantile familiare Benign familial infantile seizures Convulsioni benigne infantili familiari Convulsions infantiles bénignes familiales Convulsões benignas do lactente, forma familiar Epilepsia infantil benigna familiar Krampfanfälle, benigne familiäre infantile hrdo:pat_id_3652 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 227600 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=factor+x+deficiency%5Bmajr%5D D68.2 328 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Congenital Stuart factor deficiency Deficit congenito del fattore di Stuart Deficit del fattore di Stuart-Prower Deficiência congénita de fator de Stuart Déficit congénital en facteur Stuart Déficit congénito de factor Stuart Déficit en facteur Stuart-Prower Factor de Stuart, deficiência congénita de Stuart-Faktor-Mangel, kongenitaler Stuart-Prower factor deficiency Stuart-Prower-Faktor-Mangel, kongenitaler Congenital factor X deficiency Deficit congenito del fattore X Deficiência congénita de fator X Déficit congénital en facteur X Déficit congénito del factor X Faktor X-Mangel, kongenitaler hrdo:pat_id_3653 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável D006445 10018883 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Hemoglobin+C+disease%5Bti%5D+OR+Hemoglobin+C+disease%5Bmh%5D+OR+Haemoglobin+C+disease%5Bti%5D D58.2 2132 51053007 C0019021 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Doença de hemoglobina C Emoglobinopatia C Hemoglobin C disease Hemoglobinosis C Hämoglobin-C-Krankheit Hémoglobinose C hrdo:pat_id_3654 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 10053215 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Hemoglobin+E+disease D58.2 2133 25065001 C0238159 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Doença de hemoglobina E Emoglobinopatia E Hemoglobin E disease Hemoglobinosis E Hämoglobin-E-Krankheit Hémoglobinose E hrdo:pat_id_3655 Variabel Variabile Variable Variable Variable Variable Variável 130600 141700 166900 166910 179650 225450 235370 266140 611804 D004612 10014490 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Elliptocytosis+hereditary D58.1 288 191169008 C0013902 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Eliptocitose hereditária Eliptocitosis hereditaria Elliptocytose familiale Elliptozytose, hereditäre Ellissocitosi ereditaria Hereditary elliptocytosis hrdo:pat_id_3656 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 185000 D58.8 3203 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 OHS (Overhydrated Hereditary Stomatocytosis) Estomatocitose hereditária hiper-hidratada Estomatocitosis hereditaria con hematíes hiperhidratados Overhydrated hereditary stomatocytosis Stomatocitosi ereditaria con emazie iperidratate Stomatocytose avec hématies hyperhydratées familiale Stomatozytose, hereditäre mit Hyperhydrierung der Erythrozyten hrdo:pat_id_3657 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 194380 603528 neant D58.8 3202 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hereditary xerocytosis Stomatozytose, hereditäre mit Dehydrierung der Erythrozyten Xerocitosi ereditaria Xerocitosis hereditaria Xerozytose, hereditäre Xérocytose familiale Dehydrated hereditary stomatocytosis Estomatocitose hereditária desidratada Estomatocitosis hereditaria con hematíes deshidratados Stomatocitosi ereditaria con emazie disidratate Stomatocytose familiale avec hématies déshydratées Stomatozytose, hereditäre mit zellulärer Dehydratation hrdo:pat_id_3662 G40.8 1544 disease Adolescent benign focal crisis Convulsão focal benigna do adolescente Crises partielles bénignes de l'adolescent Crisi parziali benigne dell'adolescente Crisis parciales benignas del adolescente Fokalanfälle, adulte beninge hrdo:pat_id_3664 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 603896 C537420 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=CACH+syndrome+OR+%28Childhood+ataxia+cerebral+hypomyelination%29+OR+%28Leukoencephalopathy+vanishing+white+matter%29 E75.2 135 C1858991 C2931489 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atassia infantile con ipomielinizzazione diffusa del sistema nervoso centrale Ataxia infantil com hipomielinização difusa do SNC Ataxia infantil con hipomielinización del sistema nervioso central Ataxie infantile avec hypomyélinisation diffuse du système nerveux central Childhood ataxia with diffuse central nervous system hypomyelination Infantile Ataxie mit diffuser Hypomyelinisierung des ZNS Leucoencefalopatia com desaparecimento de substância branca Leucoencefalopatia con perdita della sostanza bianca Leucoencefalopatía con desaparición de la sustancia blanca Leucoencéphalopathie avec perte de substance blanche Leukoencephalopathy with vanishing white matter Leukoenzephalopathie mit Verlust der weissen Hirnsubstanz Mielinolisi centrale diffusa Mielinose central difusa Mielinosis central difusa Myelinosis centralis diffusa Myelinosis centralis diffusa Myélinolyse centrale diffuse CACH syndrome CACH-Syndrom Sindrome CACH Syndrome CACH Síndrome CACH Síndrome CACH hrdo:pat_id_367 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 158810 C535436 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Bethlem+myopathy%5BTw%5D G71.0 610 C1834674 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Benign autosomal dominant myopathy Miopatia benigna autossómica dominante Miopatia dominante benigna Miopatía dominante benigna Myopathie autosomique dominante bénigne Myopathie, benigne dominante Bethlem myopathy Bethlem-Myopathie Miopatia de Bethlem Miopatia, tipo Bethlem Miopatía tipo Bethlem Myopathie de Bethlem hrdo:pat_id_369 252010 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=NADH+CoQ+reductase+deficiency%5Btw%5D+OR+electron+transport+complex+i/df E88.8 2609 disease Complexo 1 da cadeia respiratória mitocondrial, deficiência de Deficit isolato del complesso 1 della catena respiratoria mitocondriale Deficit isolato di NADH-coenzima Q reduttasi Deficit isolato di NADH-ubichinone reduttasi Deficiência de complexo 1 da cadeia respiratória mitocondrial Déficit aislado de NADH-coenzima Q reductasa Déficit aislado de NADH-ubiquinona reductasa Déficit aislado del complejo 1 de la cadena respiratoria mitocondrial Déficit aislado del complejo I de la cadena respiratoria mitocondrial Déficit isolé en NADH-coenzyme Q réductase Déficit isolé en NADH-ubiquinone réductase Déficit isolé en complexe I de la chaîne respiratoire mitochondriale Isolated NADH-coenzyme Q reductase deficiency Isolated NADH-ubiquinone reductase deficiency Isolated mitochondrial respiratory chain complex I deficiency Mitochondriale Atmungskette, isolierter Defekt im Komplex 1 NADH-Coenzym-Q-Reduktase-Mangel, isolierter NADH-Ubiquinon-Reduktase-Mangel, isolierter Deficit isolato di NADH-CoQ reduttasi Deficiência de NADH-CoQ redutase Déficit aislado de NADH-CoQ reductasa Déficit isolé en NADH-CoQ réductase Isolated NADH-CoQ reductase deficiency NADH-CoQ-Reduktase Mangel, isolierter hrdo:pat_id_3698 Normal Normal Normal Normal Normal Normal Normale Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 166800 605727 608244 608787 611571 611572 612096 neant H80 2794 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Familial otosclerosis Otoespongiosis, forma familiar Otosclerose familiar Otosclerosi, forma familiare Otosklerose, familiäre Otospongiose familiale hrdo:pat_id_370 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 137550 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=nevus,pigmented%5Bmajr:noexp%5D+AND+hairy%5Btw%5D+AND+giant%5Btw%5D D22 626 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Congenital pigmented nevus GCNM GMN GMN GMN Giant congenital melanocytic nevus Giant pigmented hairy nevus LCMN LCMN LCMN LCMN Melanozytärer Naevus, großer, kongenitaler NGC Nevo melanocitico congenito gigante Nevo peloso pigmentato gigante Nevo pigmentato congenito Nevus géant congénital Large congenital melanocytic nevus Nevo gigante piloso pigmentado Nevo melanocitico congenito grande Nevus melanocítico congénito de gran tamaño Nevus pigmentaire congénital géant Riesenzellnaevus hrdo:pat_id_3700 Variabel Variabile Variable Variable Variable Variable Variável D010022 10031280 neant Q78.2 2781 1926006 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Osteopetrose Osteopetrose (termo genérico) Osteopetrosi Osteopetrosis Osteopetrosis Ostéopétrose hrdo:pat_id_3704 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance C537417 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=butyrylcholinesterase/df%5Bmajr%5D 132 360589003 C1283400 disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Butyrylcholinesterase deficiency Butyrylcholinesterase-Mangel Deficit di butiril-colinesterasi Deficiência de butirilcolinesterase Déficit de butiril-colinesterasa Déficit en butyryl-cholinestérase hrdo:pat_id_3705 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 608232 10009013 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=chronic+myeloid+leukemia%5Bti%5D+OR+leukemia%2C+myeloid%2C+chronic%5Bmh%3Anoexp%5D+OR+Leukemia+chronic+myeloid%5Bti%5D C92.1 521 63364005 92818009 C0023473 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Chronic granulocytic leukemia Chronic myelogenous leukemia Leucemia granuclocítica crónica Leucemia granulocitica cronica Leucemia granulocítica crónica Leucemia mielogena cronica Leucemia mielogénica crónica Leucemia mielógena crónica Leucemia, crónica mielogénica Leucémie granulocytique chronique Leucémie myélogène chronique Leukämie, chronische granulozytäre Leukämie, chronische myelogene Chronic myeloid leukemia Leucemia mieloide cronica Leucemia mieloide crónica Leucemia mielóide crónica Leucémie myéloïde chronique Leukämie, chronische myeloische hrdo:pat_id_3708 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 260350 606856 613347 613348 614320 C535837 neant C25 1333 C2931038 etiological subtype 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Cancer pancréatique familial Carcinoma del pancreas, forma familiare Familial pancreatic cancer Carcinoma familiare del pancreas Carcinoma pancreático familiar Carcinome pancréatique familial Cáncer pancreático familiar Familial pancreatic carcinoma Pankreaskarzinom, familiäres hrdo:pat_id_3709 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 118100 214300 613702 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=klippel-feil%5Bti%5D+OR+klippel-feil+syndrome%5Bmh%5D Q76.1 2345 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Congenital cervical vertebral fusion Congenital fused cervical segments Fusion congénitale des segments cervicaux Fusion congénitale des vertèbres cervicales Fusione congenita dei segmenti cervicali Fusione congenita delle vertebre cervicali Fusioni delle vertebre cervicali Fusión congénita de los segmentos cervicales Fusión vertebral cervical congénita Fusão vertebral cervical Halswirbelfusion, kongenitale Klippel-Feil malformation Klippel-Feil sequence Klippel-Feil-Fehlbildung Klippel-Feil-Sequenz Malformación de Klippel-Feil Malformation de Klippel-Feil Malformazione di Klippel-Feil Secuencia de Klippel-Feil Sequenza di Klippel-Feil Séquence de Klippel-Feil Wirbelkörperfusion Isolated Klippel-Feil syndrome Klippel-Feil-Syndrom, isoliertes Sindrome isolata di Klippel-Feil Syndrome de Klippel-Feil isolé Síndrome de Klippel-Feil Síndrome de Klippel-Feil aislado hrdo:pat_id_3711 Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=recessive%5Ball%5D+AND+(cerebellar+ataxia%2Fge%5BMH%3Anoexp%5D+OR+cerebellar+ataxia%5BTi%5D) G11 1172 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 ACAR ARCA ARCA ARCA ARCA Atassia cerebellare, autosomica recessiva Ataxia cerebelosa autossómica recessiva Ataxia cerebelosa autosómica recesiva Ataxie cérébelleuse autosomique récessive Ataxie, autosomal-rezessive zerebelläre Autosomal recessive cerebellar ataxia hrdo:pat_id_3712 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Variabel Variabile Variable Variable Variable Variable Variável 186700 D013595 10042928 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Syringomyelia%5Bti%5D+OR+Syringomyelia%5Bmajr%5D+OR+Morvan%27s+Disease%5Bti%5D G95.0 3280 111496009 C0039144 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Hidromelia Hydromelia Hydromelie Hydromélie Idromelia Siringomielia Siringomielia Siringomielia Syringomyelia Syringomyelie Syringomyélie hrdo:pat_id_3713 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 251600 610093 611038 613094 613517 613704 615113 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(microphthalmos+OR+Microphthalmia%5Bti%5D)+NOT+(cataract+OR+cataracts) Q11.0 Q11.1 Q11.2 2542 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Anophtalmie clinique Anophtalmie primaire Clinical anophthalmia Isolated pure microphthalmia Microphtalmie pure isolée Primitive anophthalmia Anoftalmia - microftalmia isolata Anoftalmia - microftalmia, aislada Anoftalmia - microftalmia, isolada Anophtalmie - Microphtalmie isolée Anophthalmie - Mikrophthalmie, isoliert Isolated anophthalmia - microphthalmia hrdo:pat_id_3715 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 604004 613925 613926 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Megalencephaly+cystic+leukodystrophy+OR+%28Megalencephal*+leukoencephalopathy+%28cyst+OR+cystic+OR+cysts%29%29 E75.2 2478 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Leucodistrofia megalencefalica Leucodistrofia megalencefálica Leucodystrophie mégalencéphalique Leucoencefalopatia megalencefalica vacuolizzante con cisti sottocorticali Leucoencefalopatía megalencefálica vacuolizante con quistes subcorticales Leucoencéphalopathie mégalencéphalique - kystes sub-corticaux Leukodystrophie, megalenzephale MLC MLC MLC MLC MLC Megalencefalia - leucodistrofia cistica Megalencefalia - leucodistrofia quística Megalencephalic leukodystrophy Megalencephaly - cystic leukodystrophy Megalenzephalie - zystische Leukodystrophie Mégalencéphalie - leucodystrophie kystique Sindrome di Van der Knapp Syndrome de Van der Knaap Síndrome de Van der Knapp Vacuolating megalencephalic leukoencephalopathy with subcortical cysts Vakuolisierende Myelinonopathie mit subkortikalen Zysten Van der Knaap syndrome Van der Knapp-Syndrom Leucoencefalopatia megalencefalica con cisti sottocorticali Leucoencefalopatía megalencefálica con quistes subcorticales Leucoencéphalopathie mégalencéphalique avec kystes sous-corticaux Megalencefalia - leucodistrofia quística Megalencephalic leukoencephalopathy with subcortical cysts Megalenzephale Leukoenzephalopathie mit subkortikalen Zysten hrdo:pat_id_3716 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 150250 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Larsen+syndrome%5BText+Word%5D Q68.8 503 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Autosomal dominant Larsen syndrome Larsen-Syndrom, autosomal-dominates Sindrome di Larsen autosomica dominante Syndrome de Larsen autosomique dominant Síndrome de Larsen Síndrome de Larsen autosómico dominante hrdo:pat_id_3717 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Oligomeganephroni*%5Bti%5D Q60.4 2260 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hypoplasie rénale oligoméganéphronique Oligomeganefronia Oligomeganephronic renal hypoplasia Hipoplasia renal oligomeganefrónica Oligomeganefronia Oligomeganefronia Oligomeganephronia Oligomeganephronie Oligoméganéphronie hrdo:pat_id_3719 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 300009 300554 300555 308990 310468 C545036 D057973 10069199 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=%22Dent+disease%22+OR+Dent's+disease%5Btw%5D+OR+((proteinuria+hypercalciuria+OR+nephrolithiasis)+(CLCN5+OR+OCRL1)) N25.8 1652 444645005 C0878681 C1839874 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Dent syndrome Dent-Syndrom Fanconi-Syndrom, renales, mit Nephrokalzinose und Nierensteinen Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis Nefrolitiasi recessiva legata all'X Nefrolitiasis recesiva ligada al X Nefrolitíase hipercalciúrica ligada ao X Nephrolithiase, X-chromosomal-rezessive Niedermolekulare Proteinurie mit Hyperkalziurie und Nephrokalzinose Néphrolithiase liée à l'X Proteinuria con basso peso molecolare con ipercalciuria e nefrocalcinosi Proteinuria de bajo peso molecular con hipercalciuria y nefrocalcinosis Protéinurie de bas poids moléculaire avec hypercalciurie et néphrocalcinose Rachitis, hypokalziurische hypophosphatämische, X-chromosomal-rezessive Rachitismo ipofosfatemico ipercalciurico recessivo legato all'X Raquitismo hipofosfatémico recesivo ligado al X con hipercalciuria Renal Fanconi syndrome with nephrocalcinosis and renal stones Sindrome di Dent Sindrome renale di Fanconi con nefrocalcinosi e calcolosi renale Syndrome de Dent Syndrome de Fanconi rénal - néphrocalcinose - calculs rénaux Síndrome de Dent Síndrome de Fanconi renal con nefrocalcinosis y cálculos renales X-linked recessive hypercalciuric hypophosphatemic rickets X-linked recessive nephrolithiasis Dent disease Dent-Krankheit Doença de Dent Enfermedad de Dent Maladie de Dent Malattia di Dent hrdo:pat_id_372 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 259410 C537558 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=osteogenesis+imperfecta+microcephaly+cataract Q78.0 2772 C1850184 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Congenital osteogenesis imperfecta - microcephaly - cataracts Osteogenesi imperfetta - microcefalia - cataratta Osteogenesis imperfecta - Mikrozephalie - Katarakte Osteogénesis imperfecta - microcefalia - cataratas Osteogénse imperfeita congénita - microcefalia - cataratas Ostéogenèse imparfaite - microcéphalie - cataracte hrdo:pat_id_3723 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Variabel Variabile Variable Variable Variable Variable Variável 145260 614491 614492 614495 614496 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=pseudohypoaldosteronism%5Bmajr%5D I15.1 757 15689008 C1449844 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Chlorid-Shunt-Syndrom Chloride shunt syndrome Familial hyperkalemic hypertension Gordon hyperkalemia-hypertension syndrome Gordon-Syndrom Hipercaliémia - hipertensão de Gordon, síndrome Hipercaliémia - hipertensão, tipo Gordon Hipercaliémia hipertensiva Hiperpotasemia - hipertensión, tipo Gordon Hiperpotasemia hipertensiva Hiperpotasemia resistente a mineralocorticoides Hipertensión hiperpotasémica familiar Hyperkaliemia - hypertension, Gordon type Hyperkaliämie - Hypertension, Typ Gordon Hyperkaliämie, Mineralocorticoid-resistente Hyperkaliämie, hypertensive Hyperkaliémie minéralocorticoïde résistante Hyperkaliémie-hypertension type Gordon Hypertension hyperkaliémique Hypertension hyperkaliémique de Gordon Hypertension hyperkaliémique familiale Hypertensive hyperkalemia Hypertonie, hyperkaliämische familiäre Iperkaliemia - ipertensione, tipo Gordon Iperkaliemia ipertensiva Iperkaliemia resistente ai mineralcorticoidi Ipertensione iperkaliemica familiare Mineralocorticoid resistant hyperkalemia PHA2 PHA2 PHA2 PHA2 PHA2 PHAII PHAII PHAII PHAII PHAII Sindrome da shunt dei cloruri Sindrome di Gordon Sindrome di Spitzer-Weinstein Spitzer-Weinstein syndrome Spitzer-Weinstein-Syndrom Syndrome Chloride-shunt Syndrome de Spitzer-Weinstein Síndrome de Gordon Síndrome de Spitzer-Weinstein Síndrome del 'shunt' de cloro Síndrome hipercaliémia - hipertensão de Gordon Pseudo-hipoaldosteronismo tipo 2 Pseudohipoaldosteronismo tipo 2 Pseudohypoaldosteronism type 2 Pseudohypoaldosteronismus Typ 2 Pseudohypoaldostéronisme type 2 Pseudoipoaldosteronismo, tipo 2 hrdo:pat_id_3726 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 125800 304800 D018500 10029147 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=diabetes+insipidus,+nephrogenic%5Bmajr%5D+OR+%28diabetes+insipidus%5Bmajr%5D+AND+nephrogenic%5Btw%5D%29 N25.1 223 111395007 C0162283 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Diabete insipido nefrogeno Diabetes insipidus nefrogénica Diabetes insipidus, nephrogener Diabetes insípida nefrogénica Diabète insipide néphrogénique Nephrogenic diabetes insipidus hrdo:pat_id_3727 134600 613388 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28fanconi+syndrome%5Btw%5D+%28kidney+diseases+OR+renotubular%29%29+OR+fanconi+syndrome%5Bmh%5D+NOT+%28anemia%5Bti%5D+OR+anaemia%5Bti%5D%29 E72.0 3337 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease Doença de Fanconi primária hereditária Fanconi primária hereditária, doença de Primary Fanconi renotubular syndrome Renales Fanconi-Syndrom, primäres Sindrome renotubulare di Fanconi primitiva Syndrome de Fanconi primaire rénotubulaire Síndrome de Fanconi primario renotubular Doença de Toni-Debré-Fanconi Fanconi-Syndrom, primäres Primary Fanconi syndrome Sindrome di Fanconi primitiva Syndrome de Fanconi primaire Síndrome de Fanconi primario hrdo:pat_id_3728 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 177850 264800 D011561 10037150 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=pseudoxanthoma+elasticum%5Bmh%5D+OR+pseudoxanthoma+elasticum%5BTi%5D Q82.8 758 252246005 C0033847 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Gronblad-Strandberg-Touraine syndrome PXE PXE Syndrome de Gronblad-Strandberg-Touraine Pseudoxanthoma elasticum Pseudoxanthoma elasticum Pseudoxanthome élastique Pseudoxantoma elastico Pseudoxantoma elástico Pseudoxantoma elástico hrdo:pat_id_3729 Variabel Variabile Variable Variable Variable Variable Variável 239500 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=proline+oxidase%2Fdf+OR+hyperprolinemia+type+i%5Btw%5D+OR+type+i+hyperprolinemia%5Btw%5D E72.5 419 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficiencia de prolina oxidasa Deficit di prolina ossidasi Deficiência de prolina oxidase (hiperprolinemia tipo 1) Déficit en proline oxydase Prolina oxidase, deficiência de (hiperprolinemia tipo 1) Proline oxidase deficiency Prolinoxydase-Mangel Hiperprolinemia, tipo I Hiperprolinemias tipo I Hyperprolinemia type 1 Hyperprolinämie Typ I Hyperprolinémie type I Iperprolinemia, tipo 1 hrdo:pat_id_373 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=osteogenesis+imperfecta%5Bmajr%5D+AND+eye+abnormalities%5Bmh%5D Q87.5 2773 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Al Gazali-Nair syndrome Al Gazali-Sabrinathan-Nair, síndrome de Al-Gazali-Sabrinathan-Nair-Syndrom Sindrome di Al Gazali-Nair Syndrome de Al Gazali-Nair Síndrome de Al Gazali-Nair Síndrome de Al Gazali-Sabrinathan-Nair Osteogenesi imperfetta - retinopatia - crisi epilettiche - ritardo mentale Osteogenesis imperfecta - Retinopahie - Krämpfe - Intelligenzminderung Osteogenesis imperfecta - retinopathy - seizures - intellectual deficit Osteogénesis imperfecta - retinopatía - convulsiones - déficit intelectual Osteogénse imperfeita - retinopatia Ostéogenèse imparfaite - rétinopathie - épilepsie - déficit intellectuel hrdo:pat_id_3731 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 202300 D018268 10001388 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Adrenocortical+carcinoma%5Bti%5D+OR+Adrenocortical+carcinoma%5Bmajr%5D C74.0 E24.8 1501 2227007 C0206686 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Carcinome corticosurrénalien Adrenocortical carcinoma Carcinoma adrenocortical Carcinoma adrenocortical Corticosurrenaloma Corticosurrénalome Nebennierenrinden-Karzinom hrdo:pat_id_3732 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 247640 613065 613067 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28acute+lymphoblastic%5Bti%5D+OR+acute+lymphocytic%5Bti%5D%29+leukemia%5Bti%5D+OR+leukemia%2C+lymphocytic%2C+acute%5Bmajr%5D C91.0 513 group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 ALL ALL ALL ALL Acute lymphoblastic leukemia/lymphoma Acute lymphocytic leukemia LAL LLA Leucemia linfocitica acuta Leucemia/linfoma linfoblastica acuta Leucémie/lymphoma lymphocytique aiguë Leucémie/lymphome lymphoblastique aiguë Leukämie, akute lymphozytische Linfoma / leucemia linfoblástica aguda Lymphom/Leukämie, akut, lymphoblastisch Acute lymphoblastic leukemia Leucemia linfoblastica acuta Leucemia linfoblástica aguda Leucemia linfoblástica aguda Leucémie lymphoblastique aiguë Leukämie, akute lymphoblastische hrdo:pat_id_3733 Variabel Variabile Variable Variable Variable Variable Variável neant 1957 76060004 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Neuroblastoma olfativo Neuroblastoma olfattivo Neuroblastome olfactif Olfactory neuroblastoma Estesioneuroblastoma Estesioneuroblastoma Estesioneuroblastoma Esthesioneuroblastoma Esthésioneuroblastome Ästhesioneuroblastom hrdo:pat_id_3734 Variabel Variabile Variable Variable Variable Variable Variável 117600 D005354 10016632 neant 2030 53654007 C0016057 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Fibrosarcoma Fibrosarcoma Fibrosarcoma Fibrosarcome Fibrosarkom Fibrossarcoma hrdo:pat_id_3735 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 234820 D006393 10018825 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Hemangiopericytoma%5Bti%5D+OR+Hemangiopericytoma%5Bmajr%5D C49.9 2126 134335004 36060005 C0018922 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Emangiopericitoma Hemangiopericitoma Hemangiopericitoma Hämangioperizytom Solitary fibrous tumor Tumeur fibreuse solitaire hrdo:pat_id_3736 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 612219 D018241 neant 2677 253096008 55045006 C0027828 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Neuroepitelioma Neuroepitelioma Neuroepitelioma Neuroepitheliom Neuroepithelioma Neuroépithéliome hrdo:pat_id_3737 Variabel Variabile Variable Variable Variable Variable Variável 3148 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown MPNST MPNST MPNST MPNST MPNST Malignant neurilemmoma Malignant neurofibroma Malignant schwannoma Nervenscheidentumor, maligner peripherer Neurilemmoma maligno Neurilemoma maligno Neurofibroma maligno Neurofibroma maligno Neurofibrome malin Neurofibrosarcoma Neurofibrosarcoma Neurofibrosarcoma Neurofibrosarcome Neurofibrosarkom Neurogenic sarcoma Sarcoma neurogenico Sarcoma neurogénico Sarcome neurogène Sarcome neurogénique Sarkom, neurogenes Schwannoma maligno Schwannoma maligno Schwannome malin Tumeur maligne des gaines des nerfs périphériques Malignant peripheral nerve sheath tumor Schwannom, malignes Schwannoma maligno Tumeur maligne des gaines nerveuses périphériques Tumor maligno de la vaina nerviosa periférica Tumore maligno della guaina dei nervi periferici hrdo:pat_id_3738 Variabel Variabile Variable Variable Variable Variable Variável 300813 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=sarcoma%2C+synovial%5Bmajr%5D+OR+synovial+sarcoma%5Bti%5D C49.9 3273 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Sarcoma sinovial Sarcoma sinoviale Sarcome synovial Sinovialossarcoma Synovial sarcoma Synovialsarkom hrdo:pat_id_3739 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 236000 300221 400021 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=hodgkin+disease%5Bmh%5D+OR+((Hodgkin+s%5Bti%5D+OR+Hodgkin%5Bti%5D))+NOT+(non+Hodgkin*%5Btw%5D+OR+%22non-Hodgkin%22+OR+Lymphoma,+Non-Hodgkin) C81 391 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Classical Hodgkin disease Classical Hodgkin's disease Classical Hodgkin's lymphoma Enfermedad de Hodgkin clásica Hodgkin, linfoma de Hodgkin-Krankheit Hodgkin-Krankheit, klassische Linfoma de Hodgkin Maladie classique de Hodgkin Malattia di Hodgkin classica Doença de Hodgkin Hodgkin lymphoma, classical Hodgkin-Lymphom, klassisches Linfoma de Hodgkin clásico Linfoma di Hodgkin classico Lymphome de Hodgkin classique hrdo:pat_id_3747 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 113970 D002051 D008228 10006595 10053518 10067184 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=burkitt+lymphoma%5Bmajr%5D C83.7 543 118617000 22197008 397400006 77381001 C0006413 C0079770 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Linfoma a piccole cellule non clivate Linfoma de células pequenas e não-clivadas Linfoma en pequenas células no clivées Lymphome à petites cellules non clivées Small non-cleaved cell lymphoma Burkitt lymphoma Burkitt-Lymphom Linfoma de Burkitt Linfoma de Burkitt Linfoma di Burkitt Lymphome de Burkitt hrdo:pat_id_3749 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D054446 10065863 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Anaplastic+Large+Cell+Lymphoma%5Bmh%5D+OR+Large+Cell+Lymphoma%5Bti%5D+anaplastic)+(cutaneous%5Btw%5D+OR+skin+neoplasms%5Bmh%5D) C86.6 541 128875000 397352006 C1301362 C1698767 group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Enfermedad linfoproliferativa cutánea primaria de células T Ki-1+ Linfoma de células Ki1 Lymphoprolifération T cutanée primitive Ki-1+ Malattia linfoproliferativa cutanea primitiva a cellule T Ki-1+ Primary cutaneous Ki-1+ T-cell lymphoproliferative disease Primär kutane Ki-1+ T-Zell-lymphoproliferative Krankheit Enfermedad linfoproliferativa cutánea primaria de células T CD30+ Linfoma de células grandes anaplásicas Lymphoprolifération T cutanée primitive CD30+ Malattia linfoproliferativa cutanea primitiva a cellule T CD30+ Primary cutaneous CD30+ T-cell lymphoproliferative disease Primär kutane CD30-positive T-Zell-Lymphoproliferation hrdo:pat_id_3750 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 137800 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Ependymoma%5Bmajr%5D+OR+Ependymoma%5Bti%5D C71.7 301 group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Ependimoma Ependimoma Ependymal tumor Ependymom Tumeur épendymaire Tumor ependimario Tumore ependimale hrdo:pat_id_3751 Variabel Variabile Variable Variable Variable Variable Variável 155255 D008527 10027107 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=medulloblastoma%5Bmajr%5D 616 443333004 83217000 C0025149 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Tumor neuro-ectodérmico primitivo Tumor, neuroektodermaler primärer Medulloblastom Medulloblastoma Medulloblastoma Meduloblastoma Meduloblastoma Médulloblastome hrdo:pat_id_3752 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Variabel Variabile Variable Variable Variable Variable Variável 137800 613029 D005909 10018336 10018337 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=glioblastoma%5BMH%5D+OR+glioblastoma%5Bti%5D C71.8 360 393563007 63634009 C0017636 C1621958 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 GBM GBM GBM GBM Glioblastoma multiforme Glioblastoma multiforme Glioblastoma multiforme Glioblastoma multiforme Glioblastome multiforme Glioblastom Glioblastoma Glioblastoma Glioblastoma Glioblastoma Glioblastome hrdo:pat_id_3754 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 137800 D001254 10003571 94 254938000 38713004 C0004114 group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Astrocytic tumor Tumeur astrocytaire Tumor astrocítico Tumore astrocitico Astrocitoma Astrocitoma Astrocitoma Astrocytoma Astrocytome Astrozytom hrdo:pat_id_3758 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 259500 D012516 10031291 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Osteosarcoma%5Bmajr%5D+OR+Osteosarcoma%5Bti%5D C40 C41 668 21708004 C0029463 disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Osteogenic sarcoma Sarcoma osteogenico Sarcoma osteogénico Sarcoma osteógeno Sarcome ostéogène Osteosarcoma Osteosarcoma Osteosarcoma Osteosarkom Osteossarcoma Ostéosarcome hrdo:pat_id_3759 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 612219 10015560 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Ewing+sarcoma%5Bti%5D+OR+ewing%27s+sarcoma%5Bti%5D+OR+sarcoma%2C+ewing%27s%5Bmh%5D C40 C41 319 76909002 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Ewing sarcoma Ewing-Sarkom Sarcoma de Ewing Sarcoma de Ewing Sarcoma di Ewing Sarcome d'Ewing hrdo:pat_id_3760 10048251 876 404081005 C0014145 disease Endodermal sinus tumor Tumeur du sinus endodermique Tumor de seno endodérmico Tumor des Sinus endodermalis Tumor do seio endodérmico Tumore del seno endodermico Dottersacktumor Tumeur du sac vitellin Tumor de saco vitelino Tumor do saco vitelino Tumore del sacco vitellino Yolk sac tumor hrdo:pat_id_3761 273300 D013724 10043276 C56 C62 D44.5 883 55818009 C0039538 group of phenomes Teratom Teratoma Teratoma Teratoma Teratoma Tératome hrdo:pat_id_3762 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 273300 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Seminoma+OR+(Dysgerminoma%5Bmh%5D+1939%3A1993%5BDP%5D))+(Testicular+Neoplasms+OR+Testis)+NOT+(ovary%5Bti%5D+OR+Ovarian%5Bti%5D) C62 842 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Disgerminoma Disgerminoma Disgerminoma Dysgerminom Dysgerminoma Dysgerminome Seminom, testikuläres Seminoma Seminoma Seminoma testicular Séminome testiculaire Testicular seminoma hrdo:pat_id_3764 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 274230 C536905 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Thymic+carcinoma%5Bti%5D+OR+Thymoma%5Bti%5D+OR+Thymic+epithelial+tumor%5Bti%5D+OR+thymoma%5Bmh%5D C37 D15.0 3398 128621008 C1266101 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown TEN TEN TEN TEN TEN Thymic epithelial tumor Tumeur épithéliale thymique Tumor epitelial tímico Tumore epiteliale del timo Neoplasia epitelial tímica Neoplasia epiteliale del timo Néoplasie épithéliale thymique Thymic epithelial neoplasm Thymom, epitheliales Tumor epitelial do timo hrdo:pat_id_3765 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 605027 D008228 10029547 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=non+hodgkin+malignant+lymph*%5BTi%5D+OR+burkitt+lymphoma%5Bmh%3Anoexp%5D+OR+lymphoma%2C+t+cell%5Bmh%5D+OR+lymphoma%2C+large+cell%5Bmh%5D C83 547 118601006 128929007 1929004 C0024305 group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 LMNH LNH LNH LNH NHL NHL NHL (termo genérico) Linfoma maligno não-Hodgkin (termo genérico) Linfoma no Hodgkin Linfoma non-Hodgkin Lymphome malin non-hodgkinien Non-Hodgkin lymphoma Non-Hodgkin-Lymphom hrdo:pat_id_3768 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 604856 D006646 10069698 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=histiocytosis%2C+langerhans+cell%5Bmh%5D+OR+%28langerhans%5Bti%5D+cell+histiocytosis%5Bti%5D%29 D76.0 389 128809007 190955000 65399007 C0019621 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Granulomatose de células de Langerhans Granulomatose à cellules de Langerhans Granulomatosi a cellule di Langerhans Granulomatosis de células de Langerhans Histiocitose X Histiocytose X Histiocytosis X Histiozytose X Istiocitosi X Langerhans cell granulomatosis Langerhans-Zell-Granulomatose Histiocitose de células de Langerhans Histiocitosis de células de Langerhans Histiocytose langerhansienne Istiocitosi a cellule di Langerhans Langerhans cell histiocytosis Langerhans-Zell-Histiozytose hrdo:pat_id_3771 3399 group of phenomes Keimzelltumoren, maligne Malignant germ-cell tumor Tumeur germinale maligne Tumor maligno das células germinais Tumores germinales malignos (término genérico) Tumori germinali maligni hrdo:pat_id_378 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance C535319 neant Q97.1 11 43248007 C0265497 malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown 49,XXXXX 49,XXXXX 49,XXXXX 49,XXXXX 49,XXXXX-Syndrom Penta X, síndrome Penta-X Penta-X Penta-X Penta-X Penta-X-Syndrom Pentassomia X Poli-X Poli-X Poly-X Poly-X Poly-X-Syndrom Síndrome Penta X Pentasomia X Pentasomie X Pentasomie X Pentasomy X Pentasomía X Síndrome 49 XXXXX hrdo:pat_id_38 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Variabel Variabile Variable Variable Variable Variable Variável 268800 D012497 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22sandhoff+disease%22%5BMH%5D+OR+Sandhoff%5BTi%5D E75.0 796 23849003 C0036161 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Deficit di esosaminidasi A e B Deficiência de hexosaminidases A e B Déficit en hexosaminidases A et B GM2 gangliosidosis 0 variant GM2-Gangliosidose, 0-Variante Gangliosidose GM2, variante 0 Gangliosidose à GM2, variant 0 Gangliosidosi GM2, variante O Hexosaminidase-A/B-Mangel  Hexosaminidases A and B deficiency Hexosaminidases A e B, deficiência de Doença de Sandhoff Enfermedad de Sandhoff Maladie de Sandhoff Malattia di Sandhoff Sandhoff disease Sandhoff-Krankheit hrdo:pat_id_381 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 266500 614879 D012035 10038275 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%22refsum+disease%22%5Bmh%5D+OR+Refsum+disease%5BTi%5D%29+NOT+infantile%5Btw%5D G60.1 773 25362006 C0034960 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Deficit di acido fitanico ossidasi Deficiência de oxidase do ácido fitânico Déficit en phytanoyl-CoA dioxygénase Eredopatia atattica polineuritiforme HMSN 4 HMSN 4 Hereditary motor and sensory neuropathy type 4 Heredopathia atactica polyneuritiformis Heredopathia atactica polyneuritiformis Heredopatia atáxica polineuritiforme Hérédopathie ataxique polynévritique Neuropathie sensitivo-motrice héréditaire type 4 Neuropathie, hereditäre motorisch-sensorische, Typ 4 Neuropatia ereditaria sensitivo-motoria, tipo 4 (HMSN 4) Neuropatia motora e sensitiva hereditária tipo 4 Oxidase do ácido fitânico, deficiência de Phytanic acid oxidase deficiency Phytansäure-Oxidase-Mangel Doença de Refsum Enfermedad de Refsum Maladie de Refsum Malattia di Refsum Refsum disease Refsum-Syndrom hrdo:pat_id_384 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 268020 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=retinitis+pigmentosa+%28hearing+loss%5Bmh%5D+OR+deafness%5Btw%5D%29+mental+retardation+%28hypogenitali*%5Btw%5D+OR+hypogonadism%29 Q87.8 3085 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Retinite pigmentosa - deficit cognitivo - sordità - ipogenitalismo Retinite pigmentosa - surdez - hipogenitalismo Retinitis pigmentosa - Intelligenzminderung - Taubheit - Hypogenitalismus Retinitis pigmentosa - intellectual deficit - deafness - hypogenitalism Retinosis pigmentaria - sordera - hipogenitalismo Rétinite pigmentaire - déficit intellectual - surdité - hypogénitalisme hrdo:pat_id_387 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 182290 D058496 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Smith-Magenis%5Btw%5D+AND+%28%22syndrome%22%5BMeSH+Terms%5D+OR+syndrome%5BText+Word%5D%29 Q87.8 819 401315004 C0795864 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 17p11.2 microdeletion Deleção 17p11.2 Microdelezione 17p11.2 Microdélétion 17p11.2 Sindrome di Smith-Magenis Smith-Magenis syndrome Smith-Magenis-Syndrom Syndrome de Smith-Magenis Síndrome de Smith-Magenis Síndrome de Smith-Magenis hrdo:pat_id_39 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Variabel Variabile Variable Variable Variable Variable Variável 10039710 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=crest+syndrome%5Bmajr%5D+OR+scleroderma,+systemic%5Bmajr%5D M34 801 89155008 C0011644 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Esclerodermia Esclerodermia Scleroderma Sclerodermia Sclérodermie Sklerodermie hrdo:pat_id_390 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance C536502 neant Q97.1 9 10567003 C0265496 malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown 48,XXXX 48,XXXX 48,XXXX 48,XXXX 48,XXXX-Syndrom Quadruple X Quadruple X Quadruplo X Tetra X Tetra X Tetra X Tetra-X-Syndrom Tetrassomia X Tétra X X cuádruple Síndrome 48 XXXX Tetrasomia X Tetrasomie X Tetrasomy X Tetrasomía X Tétrasomie X hrdo:pat_id_392 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 161200 D009261 10063431 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%22nail-patella+syndrome%22%5BTw%5D+NOT+Medline%5BSB%5D%29+OR+%22nail-patella+syndrome%22%5BMeSH+Terms%5D Q87.2 2614 22199006 C0027341 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Onico-osteo-displasia Onico-osteo-displasia Onycho-ostéodysplasie Onychoosteodysplasia Osteoonychodysplasie Ostéo-onychodysplasie héréditaire Sindrome di Turner-Kieser Syndrome de Turner-Kieser Síndrome de Turner-Kieser Turner-Kieser syndrome Turner-Kieser, síndrome de Turner-Kieser-Syndrom Nagel-Patella-Syndrom Nail-patella syndrome Sindrome nail-patella Syndrome Nail-patella Síndrome unha-rótula Síndrome uña-rótula hrdo:pat_id_394 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 100050 305400 10067148 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=FGD1+protein%2C+human%5BSubstance+Name%5D+OR+faciogenital+AND+dysplasia+OR+Aarskog%5Btw%5D Q87.1 915 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Aarskog syndrome Aarskog-Syndrom Displasia faciogenital Displasia faciogenitale Dysplasie faciogénitale Dysplasie, fazio-genitale Facio-digito-genital, síndrome Faciodigitogenital syndrome Faciogenital dysplasia Fazio-genito-digitales Syndrom Sindrome di Aarskog Sindrome facio-digito-genitale Syndrome d'Aarskog Syndrome facio-digito-génital Síndrome de Aarskog Síndrome facio-digito-genital Síndrome faciodigitogenital Aarskog-Scott syndrome Aarskog-Scott-Syndrom Sindrome di Aarskog-Scott Syndrome de Aarskog-Scott Síndrome de Aarskog-Scott Síndrome de Aarskog-Scott hrdo:pat_id_396 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 100600 D000052 10000350 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Acanthosis+nigricans%5Bti%5D+OR+Acanthosis+nigricans%5Bmajr%5D L83 924 402599005 C0000889 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Acanthosis nigricans Acanthosis nigricans Acanthosis nigricans Acanthosis nigricans Acanthosis nigricans Acantose nigricans hrdo:pat_id_399 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 243500 C538167 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=isovaleric+acidemia%5Btw%5D E71.1 33 87827003 C0268575 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Deficit di CoA-deidrogenasi dell'acido isovalerico Deficiência de ácido isovalérico-CoA desidrogenase Déficit de isovaleril CoA deshidrogenasa Déficit en Isovaléryl-CoA déshydrogénase Isovaleric acid CoA dehydrogenase deficiency Isovaleryl-CoA-Dehydrogenase-Mangel Ácido isovalérico-CoA desidrogenase, deficiência de Acidemia isovalerica Acidemia isovalérica Acidemia isovalérica Acidémie isovalérique Isovalerianazidämie Isovaleric acidemia hrdo:pat_id_40 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 253220 D016538 10056893 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=mucopolysaccharidosis+vii%5Bmajr%5D E76.2 584 124470009 43916004 C0085132 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Beta-Glucuronidasemangel Beta-glucuronidase deficiency Beta-glucuronidase, deficiência de Deficit di beta-glucuronidasi Deficiência de beta-glucuronidase Doença de Sly Déficit de beta-glucoronidasa Déficit en bêta-glucuronidase Enfermedad de Sly Maladie de Sly Malattia di Sly Sly disease Sly, doença de Sly-Krankheit Mucopolisacaridose tipo 7 Mucopolisacaridosis tipo 7 Mucopolisaccaridosi, tipo 7 Mucopolysaccharidose type 7 Mucopolysaccharidosis type 7 Mukopolysaccharidose Typ 7 hrdo:pat_id_402 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 271980 neant E72.8 22 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Bernsteinsäure-Semialdehyd-Dehydrogenase-Mangel Deficit di semialdeide succinico deidrogenasi Deficiência de semialdeído succínico desidrogenase Déficit de semialdehido succínico deshidrogenasa Déficit en succinate-semi-aldéhyde déshydrogénase Semialdeído succínico desidrogenase, deficiência de Succinic semialdehyde dehydrogenase deficiency 4-Hydroxybutyrazidurie 4-hydroxybutyric aciduria Aciduria 4 hidroxi-butírica Aciduria 4-idrossibutirrica Acidurie 4-hydroxybutyrique Acidúria 4-hidroxibutírica hrdo:pat_id_403 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 610377 D054078 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28mevalonic+aciduria%5Btw%5D+OR+mevalonate+kinase+deficien*%5Btw%5D%29+NOT+%28Hyperimmunoglobulinemia+D%5Btw%5D+OR+hyper+IgD%5Btw%5D%29 E88.8 29 124327008 C0342731 C1959626 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Complete mevalonate kinase deficiency Deficit completo di mevalonato chinasi Deficiência de mevalonato cinase Déficit complet en mévalonate kinase Déficit total de mevalonato quinasa MVA MVA MVA MVA MVA Mevalonatkinase-Mangel Mevalonato cinase, deficiência de Aciduria mevalonica Aciduria mevalónica Acidurie mévalonique Acidúria mevalónica Mevalonic aciduria Mevalonic aciduria hrdo:pat_id_404 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 258900 C537136 10052621 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hereditary+orotic+aciduria%5Btw%5D+OR+Orotate+Phosphoribosyltransferase/df+OR+Orotidine-5%27-Phosphate+Decarboxylase/df D53.0 30 16242007 69525003 C0220987 C0268130 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acidúria orótica Deficit di orotidilico decarbossilasi Deficit di uridina-monofosfato sintasi Deficiência de descarboxilase orotidílica Deficiência de uridina monofosfato sintetase Descarboxilase orotidílica, deficiência de Déficit en orotidylique décarboxylase Déficit en uridine monophosphate synthase Orotazidurie-Syndrom, hereditäres Oroticaciduria Oroticaciduria Oroticacidurie Orotidyl-Dekarboxylase-Mangel Orotidylic decarboxylase deficiency Uridin-Monophosphat-Synthase-Mangel Uridina monofosfato sintetase, deficiência de Uridine monophosphate synthetase deficiency Aciduria orotica ereditaria Aciduria orótica hereditaria Acidurie orotique héréditaire Acidúria orótica hereditária Hereditary orotic aciduria Orotazidurie, hereditäre hrdo:pat_id_4041 Variabel Variabile Variable Variable Variable Variable Variável 130020 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=ehlers+danlos+syndrome%5Bmh%5D+(hypermobility%5Bti%5D+OR+hyperextensib*%5Bti%5D+OR+tenascin+OR+TNXB)+OR+(ehlers+danlos+syndrome%5Bti%5D+type+iii%5Bti%5D) Q79.6 285 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 BJHS BJHS BJHS Benign joint hypermobility syndrome EDS 3 EDS III EDS III EDS III EDS III Ehlers-Danlos syndrome type 3 Ehlers-Danlos syndrome, hypermobile type Ehlers-Danlos tipo hipermóvel, síndrome de Ehlers-Danlos-Syndrom Typ 3 HT-EDS HT-EDS Hypermobilitätssyndrom, benignes SED III SHAB Sindrome da ipermobilità articolare benigna Sindrome di Ehlers-Danlos, tipo 3 Syndrome d'Ehlers-Danlos type 3 Syndrome d'hypermobilité articulaire bénigne Síndrome de Ehlers-Danlos tipo hipermóvel Ehlers-Danlos syndrome, hypermobility type Ehlers-Danlos-Syndrom, hypermobiler Typ Sindrome di Ehlers-Danlos, tipo ipermobile Syndrome d'Ehlers-Danlos type hypermobile Síndrome de Ehlers-Danlos tipo 3 Síndrome de Ehlers-Danlos, tipo hipermóvil hrdo:pat_id_4042 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 130050 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=ehlers+danlos+syndrome+(type+iv%5Btw%5D+OR+Arteriovenous+Malformations+OR+%22COL3A1%22) Q79.6 286 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 EDS IV EDS IV EDS IV EDS IV EDS IV EDS IV EDS de tipo 4 EDS type 4 EDS, tipo 4 Ehlers-Danlos syndrome type 4 Ehlers-Danlos syndrome type IV Ehlers-Danlos tipo vascular síndrome de Ehlers-Danlos-Syndrom Typ 4 SED IV SED type 4 Sack-Barabas syndrome Sack-Barabas-Syndrom Sindrome di Ehlers-Danlos, tipo 4 Sindrome di Ehlers-Danlos, tipo IV Sindrome di Sack-Barabas Syndrome d'Ehlers-Danlos type 4 Syndrome d'Ehlers-Danlos type IV Syndrome de Sack-Barabas Síndrome de Ehlers-Danlos de tipo 4 Síndrome de Ehlers-Danlos de tipo IV Síndrome de Ehlers-Danlos tipo vascular Síndrome de Sack-Barabas Ehlers-Danlos syndrome, vascular type Ehlers-Danlos-Syndrom, vaskulärer Typ Sindrome di Ehlers-Danlos, tipo vascolare Syndrome d'Ehlers-Danlos type vasculaire Síndrome de Ehlers-Danlos de tipo vascular Síndrome de Ehlers-Danlos tipo 4 hrdo:pat_id_4043 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 225400 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=ehlers+danlos+syndrome+(type+vi%5Btw%5D+OR+Scoliosis+OR+%22lysyl+hydroxylase+1%22) Q79.6 1900 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown EDS 6 EDS VI EDS VI EDS VI EDS VIA EDS VIA EDS type cyphoscoliotique EDS type oculo-scoliotique EDS, kyphoscoliotic type EDS, oculoscoliotic type Ehlers-Danlos syndrome type 6A Ehlers-Danlos syndrome, oculoscoliotic type Ehlers-Danlos tipo cifoscoliótico, síndrome de Ehlers-Danlos-Syndrom Typ 6 SED VIA SED type cyphoscoliotique SED type oculo-scoliotique Sindrome di Ehlers-Danlos, tipo 6 Syndrome d'Ehlers-Danlos type 6A Syndrome d'Ehlers-Danlos type oculo-scoliotique Síndrome de Ehlers-Danlos tipo 6 Síndrome de Ehlers-Danlos tipo cifoscoliótico Ehlers-Danlos syndrome, kyphoscoliotic type Ehlers-Danlos-Syndrom, kyphoskoliotischer Typ Sindrome di Ehlers-Danlos, tipo cifoscoliotico Syndrome d'Ehlers-Danlos type cyphoscoliotique Síndrome de Ehlers-Danlos tipo 6 Síndrome de Ehlers-Danlos, tipo cifoscoliosis hrdo:pat_id_4044 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 130060 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28ehlers+danlos+syndrome%5Bmh%5D+OR+Ehlers+Danlos+syndrome%5Btw%5D%29+AND+%28classic+OR+type+I%5BTW%5D+OR+type+II%5BTW%5D%29 Q79.6 1899 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 EDS 7 EDS VII EDS VII EDS VII EDS VII EDS VII Ehlers-Danlos syndrome type 7 Ehlers-Danlos syndrome, arthrochalasia type Ehlers-Danlos tipo artrocalásico síndrome de Ehlers-Danlos-Syndrom Typ 7 SED VII Sindrome di Ehlers-Danlos, tipo 7 Syndrome d'Ehlers-Danlos type 7 Síndrome de Ehlers-Danlos tipo 7 Síndrome de Ehlers-Danlos tipo artrocalásico Ehlers-Danlos syndrome, arthrochalasic type Ehlers-Danlos-Syndrom, Arthrochalasie Typ Sindrome di Ehlers-Danlos, tipo artrocalasico Syndrome d'Ehlers-Danlos type arthrochalasique Síndrome de Ehlers-Danlos tipo 7 Síndrome de Ehlers-Danlos, tipo artrocalásico hrdo:pat_id_4045 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 225410 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28ehlers+danlos+syndrome%5Bmh%5D+OR+Ehlers+Danlos+syndrome%5Btw%5D%29+AND+%28classic+OR+type+I%5BTW%5D+OR+type+II%5BTW%5D%29 Q79.6 1901 55711009 C2700425 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 EDS 7C EDS VII C EDS VII C EDS VIIC EDS VIIC EDS VIIC Ehlers-Danlos syndrome type 7C Ehlers-Danlos tipo dermatosparaxis, síndrome de Ehlers-Danlos-Syndrom Typ 7C SED VIIC Sindrome di Ehlers-Danlos, tipo 7C Syndrome d'Ehlers-Danlos type 7C Síndrome de Ehlers-Danlos tipo 7C Síndrome de Ehlers-Danlos tipo dermatosparaxis Ehlers-Danlos syndrome, dermatosparaxis type Ehlers-Danlos-Syndrom, Dermatospraxis Typ Sindrome di Ehlers-Danlos, tipo dermatosparassi Syndrome d'Ehlers-Danlos type dermato-sparaxis Síndrome de Ehlers-Danlos tipo 7C Síndrome de Ehlers-Danlos, tipo dermatosparaxis hrdo:pat_id_4046 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 226670 neant G71.0 Q81.0 257 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Distrofia de cinturas y extremidades con epidermólisis ampollosa simple Distrofia de cinturas y extremidades con epidermólisis bullosa simple Distrofia dei cingoli con epidermolisi bollosa semplice Dystrophie musculaire des ceintures associée à une épidermolyse bulleuse EBS-MD EBS-MD EBS-MD EBS-MD Epidermolisis bullosa simple con distrofia muscular Limb girdle dystrophy with epidermolysis bullosa simplex Epidermolisi bollosa semplice con distrofia muscolare Epidermolisis ampollosa simple con distrofia muscular Epidermolyse bulleuse simple avec dystrophie musculaire Epidermolysis bullosa simplex - Gliedergürtelmuskeldystrophie Epidermolysis bullosa simplex with muscular dystrophy Epidermólise bolhosa simples - Distrofia muscular das cinturas hrdo:pat_id_4048 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 256300 C535761 10060740 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28nephrosis%5Bti%5D+OR+nephrotic+syndrome%5Bti%5D+OR+nephrotic+syndrome%5Bmh%5D%29+finnish N04 839 197601003 C0403399 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Finnish congenital nephrosis Nefrose congénita finlandesa Nefrosi congenita Finlandese Nefrosis congénita finlandesa Nephrose, kongenitale, finnischer Typ Néphrose congénitale finlandaise Congenital nephrotic syndrome, Finnish type Nephrotisches Syndrom, kongenitales, finnischer Typ Sindrome nefrosica congenita, tipo Finlandese Syndrome néphrotique congénital type finlandais Síndrome nefrótico congénito tipo finlandés Síndrome nefrótico congénito tipo finlandês hrdo:pat_id_405 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 200990 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Acrocallosal+syndrome%5Btw%5D Q04.0 36 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ACS ACS ACS ACS ACS Acrocallosal syndrome Akrokallosal-Syndrom Sindrome acrocallosa Syndrome acro-calleux Síndrome acrocalloso Síndrome acrocalosal tipo Schinzel hrdo:pat_id_4052 3394 group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Malignant mesenchymal tumor Malignant soft tissue tumor Mesenchymaler Tumor, maligner Sarcoma de tejidos blandos Sarcome des parties molles Tumeur maligne des parties molles Tumeur maligne des tissus mous Tumeur mésenchymateuse maligne Tumor maligno de tejidos blandos Tumor mesenquimal maligno Tumor mesenquimatoso maligno (termo genérico) Tumore maligno dei tessuti molli Tumore mesenchimale maligno Weichteiltumor, maligner Sarcoma de partes blandas Sarcoma de tecidos moles (termo genérico) Sarcoma dei tessuti molli Sarcome des tissus mous Soft tissue sarcoma Weichteilsarkom hrdo:pat_id_4054 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 247200 D054221 10068361 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Lissencephaly%5Ball%5D+type+I%5Btw%5D%29+OR+%28%28Lissencephaly+OR+brain/ab%29+%28Miller+Dieker%5Btiab%5D+syndrome%29+OR+LIS1+protein%29 Q04.3 531 253148005 C0265219 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Delezione 17p telomerica Délétion télomérique 17p Lisencefalia ligada ao cromossoma 17 Lissencefalia da delezione 17p13.3 Lissencephaly due to 17p13.3 deletion Lissencéphalie due à une délétion chromosomique 17p13.3 Lissenzephalie durch Deletion 17p13.3 Monosomia 17p13.3 Monosomie 17p13.3 Monosomie 17p13.3 Monosomy 17p13.3 Telomeric deletion 17p Lisencefalia tipo 1 por anomalias no gene LIS 1 Miller-Dieker syndrome Miller-Dieker-Syndrom Sindrome di Miller-Dieker Syndrome de Miller-Dieker Síndrome de Miller-Dieker hrdo:pat_id_4057 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300215 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Lissencephaly%5Btw%5D+AND+%28ARX%5Btw%5D+OR+xp22.13%5Btw%5D+OR+genitalia%5Ball%5D%29 Q04.0 Q04.3 452 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Lisencefalia - anomalias genitais Lisencefalia ligada al X - agenesia del cuerpo calloso - anomalías genitales Lissencefalia legata all'X - agenesia del corpo calloso - anomalie genitali Lissencefalia legata all'X con ambiguità genitale Lissencéphalie liée à l'X - agénésie du corps calleux - anomalies génitales Lissencéphalie liée à l'X avec ambiguités génitales Lissenzephalie, X-chromosomale - Corpus-callosum-Agenesie - Genitalanomalien Sindrome XLAG Syndrome XLAG Síndrome XLAG X-linked lissencephaly - agenesis of the corpus callosum - genital anomalies X-linked lissencephaly with ambiguous genitalia XLAG syndrome XLAG-Syndrom Lisencefalia ligada al X con anomalías genitales Lisencefalia tipo 1 ligada ao X - agenesia do corpo caloso Lissencefalia legata all'X con genitali anomali Lissencéphalie liée à l'X avec anomalies génitales X-chromosomale Lissenzephalie mit Genitalanomalien X-linked lissencephaly with abnormal genitalia hrdo:pat_id_4058 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Lissencephal*%5Bti%5D+NOT+(genitalia%5Bti%5D+OR+Urogenital+Abnormalities+OR+doublecortin+OR+DCX+OR+lis1+OR+%22LIS+1%22+OR+%22type+ii%22+OR+%22type+2%22) Q04.3 1084 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Isolated lissencephaly type 1 without known genetic defects Lisencefalia tipo 1 isolada, sem alterações genéticas conhecidas Lisencefalia, tipo 1, aislada, sin anomalías genéticas conocidas Lissencefalia isolata tipo 1, senza difetti genetici noti Lissencéphalie type 1 inexpliquée Lissenzephalie Typ 1, isolierte, ohne bekannten genetischen Defekt hrdo:pat_id_4059 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614019 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Microlissencephaly%5BAll+Fields%5D+OR+NORMAN-ROBERTS%5Btw%5D+OR+%28lissencephaly%5Bti%5D+AND+microcephaly%5Bti%5D%29 Q04.3 1083 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Microlisencefalia Microlisencefalia Microlissencefalia Microlissencephaly Microlissencéphalie Mikrolissenzephalie hrdo:pat_id_407 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 154400 C538184 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28nager%5Btw%5D+OR+nager%27s%5Btw%5D%29+AND+%28Mandibulofacial+Dysostosis+OR+acrofacial%5Btw%5D%29 Q75.4 245 35520007 C0265245 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acro-dysostose pré-axiale Disostose acro-facial de Nager Dysostose acro-faciale de Nager Dysostose mandibulo-faciale avec anomalies préaxiales des extrémités Mandibulofacial dysostosis with preaxial limb anomalies Nager acrofacial dysostosis Nager-Syndrom Preaxial acrodysostosis Sindrome di Nager Síndrome de Nager Disostose acro-facial, tipo Nager Disostosi acrofacciale, tipo Nager Disostosis acrofacial tipo Nager Dysostose, akrofaziale, Typ Nager Nager syndrome Syndrome de Nager hrdo:pat_id_408 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 102200 D000172 10000599 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22acromegaly%22%5BMeSH+Major+Topic%5D+AND+hasabstract%5Btext%5D+AND+%22humans%22%5BMeSH+Terms%5D E22.0 963 74107003 C0001206 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Acromegalia Acromegalia Acromegalia Acromegaly Acromégalie Akromegalie hrdo:pat_id_41 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 106300 183840 D013167 10002556 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=spondylitis,ankylosing%5Bmajr%5D M45 825 9631008 C0038013 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Ankylosing spondylarthritis Bechterew syndrome Espondilitis anquilopoyética Sindrome di Bechterew Syndrome de Bechterew Von-Bechterew-Syndrom Ankylosing spondylitis Espondiloartrite anquilosante Espondiloartritis anquilosante Spondiloartrite anchilosante Spondylarthrite ankylosante Spondylarthritis, ankylosierende hrdo:pat_id_410 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 202370 266510 601539 614863 614867 614871 614873 614877 614885 614920 D018901 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28adrenoleukodystrophy%5Bmh%5D+OR+Adrenoleukodystrophy%5Bti%5D%29+AND+%28newborn%5Btw%5D+OR+infant%5Bmh%5D+OR+neonatal%5Btw%5D%29 E71.3 44 238061001 C0282525 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown NALD NALD NALD Adrenoleucodistrofia neonatal Adrenoleucodistrofia neonatal Adrenoleucodistrofia neonatale Adrenoleukodystrophie, neonatale Form Adrénoleucodystrophie néonatale Neonatal adrenoleukodystrophy hrdo:pat_id_411 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 203500 C537862 D000474 10001689 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22alkaptonuria%22%5BMH%5D+OR+Alkaptonuria%5BTi%5D E70.2 56 360378009 360381004 C0002066 C2931645 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Deficit di acido omogentisico ossidasi Deficiência de ácido homogentísico oxidase Déficit de homogentisico oxidasa Déficit en acide homogentisique oxydase Déficit en homogentisicase Hereditary ochronosis Homogentisic acid oxidase deficiency Homogentisin(säure)oxigenase-Mangel Ochronose héréditaire Ochronose, hereditäre Ocronose hereditária Ocronosi ereditaria Ocronosis hereditaria Ácido homogentísico oxidase, deficiência de Alcaptonuria Alcaptonuria Alcaptonurie Alcaptonúria Alkaptonuria Alkaptonurie hrdo:pat_id_412 neant 1006 disease Alopecia - deficit immunitario Alopecia - deficiência em anticorpos Alopecia antibody deficiency Alopecia immodeficiencia Alopezie mit Antikörper-Mangel Alopécie - déficit immunitaire hrdo:pat_id_413 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 600461 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Hemolytic+anemia+lethal+%28genital+anomalies+OR+Genitalia%2C+Male/ab%29 D58.8 1046 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Syndrome de Waters-West Water-West syndrome Waters-West-Syndrom Anemia emolitica letale - anomalie genitali Anemia hemolítica letal - anomalias genitais Anemia hemolítica letal anomalías genitales Anämie, hämolytische letale - Genitalfehlbildungen Anémie hémolytique létale - anomalies génitales Lethal hemolytic anemia - genital anomalies hrdo:pat_id_415 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 112200 C536240 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=nevus,+blue%5Bmajr%5D+OR+%22blue+rubber%22 Q27.8 1059 254784002 C0346072 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Bean syndrome Bean, síndrome de Bean-Syndrom Blaues Gummibläschen-Naevus-Syndrom Blue rubber bleb-Nävus-Syndrom Sindrome di Bean Syndrome de Bean Síndrome de Bean Síndrome de Bean Angiomatose cutanée et digestive Angiomatosis cutánea y digestiva Blue rubber bleb nevus Hämangiomatose, viszerokutane Nevo bolhoso esponjoso azul Sindrome del nevo blu hrdo:pat_id_416 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 206700 1065 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Gillespie syndrome Gillespie, síndrome de Gillespie-Syndrom Sindrome di Gillespie Syndrome de Gillespie Síndrome de Gillespie Aniridia - atassia cerebellare - ritardo mentale Aniridia - ataxia cerebelosa - atraso mental Aniridia - ataxia cerebelosa - déficit intelectual Aniridia - cerebellar ataxia - intellectual deficit Aniridie - ataxie cérébelleuse - déficit intellectuel Aniridie - zerebelläre Ataxie - geistige Retardierung hrdo:pat_id_417 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 207800 D020162 10062695 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=arginase/df+OR+argininemia%5Bti%5D+OR+hyperargininemia%5Bmh%5D+OR+hyperargininemia%5Bti%5D E72.2 90 23501004 C0268548 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Arginase deficiency Deficit di arginasi Déficit de arginasa Déficit en arginase Hiperargininemia Hyperargininemia Hyperargininämie Hyperargininémie Iperargininemia Argininemia Argininemia Argininemia Argininemia Argininämie Argininémie hrdo:pat_id_418 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 603457 neant Q87.0 1135 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Arhinie - atrésie des choanes - microphtalmie Arinia - atresia delle coane - microftalmia Arrhinia - choanal atresia - microphthalmia Arrhinie - Choanalatresie - Mikrophthalmie Arrinia - atresia das coanas - microftalmia Arrinia atresia de coanas microftalmia hrdo:pat_id_42 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300001 308100 D016114 10048063 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22x-linked+ichthyosis%22%5BText+Word%5D+OR+%22ichthyosis%2C+x-linked%22%5BMeSH+Terms%5D Q80.1 461 402771003 C0079588 C2717836 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Deficiencia de esteroide sulfatasa Deficit di solfatasi steroidea Deficiência de sulfatase de esteroides Déficit de esteroide sulfatasa Déficit en stéroïde sulfatase Ichtyose liée à l'X Ictiosis ligada al X Ittiosi legata all'X RXLI RXLI RXLI RXLI RXLI Steroid sulfatase deficiency Steroidsulfatase-Mangel Sulfatase de esteroides, deficiência de X-linked ichthyosis XLI XLI XLI XLI XLI Ichthyose, X-chromosomal-rezessive Ichtyose recessive liée à l'X Ictiose, ligada ao X Ictiosis recesiva ligada al X Ittiosi recessiva legata all'X Recessive X-linked ichthyosis hrdo:pat_id_420 208100 C536614 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28arthrogryposis%5Bmh%5D+OR+arthrogryposis%5Bti%5D%29+AND+neurogenic%5Btw%5D+AND+Neuromuscular+Diseases%5Bmh%5D Q74.3 1143 C1859721 disease Arthrogrypose congénitale multiple neurogénique Arthrogryposis multiplex congenita, neurogener Typ Artrogripose múltipla congénita tipo neurogénico Artrogriposi congenita multipla, tipo neurogeno Artrogriposis congénita múltiple tipo neurogenico Neurogenic arthrogryposis multiplex congenita hrdo:pat_id_421 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 108120 126050 614335 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=arthrogryposis%5Bti%5D+AND+distal%5Btw%5D+AND+%28type+i%5Btw%5D+OR+type+1%5Btw%5D+OR+digitotal*%5Btw%5D+OR+digito+tal*%5Btw%5D%29 Q74.3 1146 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Arthrogrypose distale type 1 Arthrogrypose distale type I Arthrogrypose, distale, Typ 1 Artrogripose distal tipo 1 Artrogripose distal tipo I Artrogriposi distale, tipo 1 Artrogriposis distal tipo 1 DA1 DA1 DA1 DA1 DA1A DA1A DA1A DA1A Distal arthrogryposis type 1 Digitotalar dysmorphism Dismorfia digito-talar Dismorfia digitotalar Dismorfismo digitotalare Dysmorphie digito-astragalienne Dysmorphien, digitotalare hrdo:pat_id_422 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601680 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=arthrogryposis%5Bti%5D+%28type+ii%5Btw%5D+OR+type+2%5Btw%5D+OR+type+iib%5Btw%5D+OR+type+2b%5Btw%5D+OR+%28freeman+sheldon%5Btw%5D+variant%5Btw%5D%29%29 Q74.3 1147 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Arthrogrypose distale type 2B Arthrogrypose distale type II Arthrogrypose, distale, Typ 2B Artrogripose distal tipo 2B Artrogripose distal tipo II Artrogriposi distale, tipo 2 Artrogriposi distale, tipo 2B Artrogriposis distal tipo 2B Distal Arthrogryposis type 2B Freeman-Sheldon syndrome variant Freeman-Sheldon-Syndrom (Variante) Syndrome de Freeman-Sheldon variant Variante del síndrome de Freeman-Sheldon Variante della sindrome di Freeman-Sheldon Sheldon-Hall syndrome Sheldon-Hall-Syndrom Sindrome di Sheldon-Hall Syndrome de Sheldon-Hall Síndrome de Freeman-Sheldon variante Síndrome de Sheldon-Hall hrdo:pat_id_424 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 108145 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=arthrogryposis%5Bti%5D+AND+%28type+v%5Btw%5D+OR+type+5%5Btw%5D+OR+ophthalmo*%5Btw%5D%29 Q74.3 1154 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Amioplasia oculomelica Amioplasia oculomélica Amioplasia oculomélica Amyoplasie oculomélique Amyoplasie, okulomele Arthrogrypose - Ophtalmoplegie - Retinopathie Arthrogrypose distale type 5 Arthrogrypose distale type IIB Arthrogrypose, distale, Typ 2B Arthrogrypose, distale, Typ 5 Arthrogrypose, distale, Typ IIB Artrogripose distal tipo 5 Artrogripose distal tipo IIB Artrogriposi distale, tipo 5 Artrogriposi distale, tipo IIB Artrogriposis distal tipo 5 Artrogriposis distal tipo IIB Distal arthrogryposis type 5 Distal arthrogryposis type IIB Distal arthrogryposis with ophthalmoplegia Oculomelic amyoplasia Arthrogrypose - Ophthalmoplegie - Retinopathie Arthrogrypose avec limitation du champs oculomoteur Arthrogryposis with oculomotor limitation and electroretinal anomalies Artrogripose - oftalmoplegia - retinopatia Artrogriposi - oftalmoplegia - retinopatia Artrogriposis - oftalmoplejía - retinopatía hrdo:pat_id_425 253900 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28muscular+dystrophies%5Bmajr%5D+OR+muscular+dystrophy%5Bti%5D%29+%28ARTHROGRYPOS*%5Bti%5D+OR+contractures%5Bti%5D%29 M62.8 1155 disease Arthrogrypose infolge Muskeldystrophie Arthrogrypose par dystrophie musculaire Arthrogryposis due to muscular dystrophy Artrogripose por distrofia muscular Artrogriposi da distrofia muscolare Artrogriposis por distrofia muscular hrdo:pat_id_426 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 300494 300497 608631 608638 608781 609954 D020817 10003484 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Asperger+Syndrome%5Bmh%5D+OR+Asperger%5Bti%5D+OR+Asperger%27s%5Bti%5D F84.5 1162 23560001 C0236792 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Asperger syndrome Asperger, síndrome de Asperger-Syndrom Sindrome di Asperger Syndrome d'Asperger Síndrome de Asperger hrdo:pat_id_428 Variabel Variabile Variable Variable Variable Variable Variável 109350 614266 D001471 10004137 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=barrett+esophagus%5Bmajr%5D+OR+%28%28Barrett%27s%5Bti%5D+OR+Barrett%5Bti%5D%29+%28esophagus%5Bti%5D+OR+oesophagus%5Bti%5D%29%29 K22.7 1232 302914006 C0004763 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Barrett-Ösophagus Barrett esophagus Barrett-Syndrom Esofago di Barrett Esófago de Barrett Esófago de Barrett Oesophage de Barrett hrdo:pat_id_429 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 105650 300835 606129 606164 610629 612527 612528 612561 612562 612563 613308 613309 614900 D029503 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=diamond+blackfan+anemia%5Btw%5D+OR+anemia%2C+diamond+blackfan%5Bmh%5D+OR+diamond+blackfan+anaemia%5Btw%5D D61.0 124 88854002 C1260899 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown APCR congénita Aase syndrome Aase, síndrome Aase-Smith II syndrome Aase-Smith II, síndrome de Aase-Smith-Syndrom II Aase-Syndrom Anemia de Blackfan-Diamond Anemia de Blackfan-Diamond Anemia di Blackfan-Diamond Anemia hipoplásica congénita tipo Blackfan-Diamond Anemia hipoplásica congénita, tipo Blackfan-Diamond Anemia ipoplastica congenita, tipo Blackfan-Diamond Anämie, hypoplastische, kongenitale, Typ Blackfan-Diamond Anémie aplasique pure congénitale Anémie hypoplasique congénitale de Blackfan-Diamond Aplasia eritrocitaria pura congenita Aplasia pura de células rojas congénita Aplasie der roten Blutkörperchen, angeborene Aplastische Anämie, isolierte kongenitale Congenital PRCA Congenital hypoplastic anemia, Blackfan-Diamond type Congenital pure red cell aplasia Diamond-Blackfan-Syndrom Erythroblastopénie congénitale Maladie de Blackfan-Diamond PRCA congenita PRCA, kongenital Sindrome di Aase Sindrome di Aase-Smith II Syndrome d'Aase Syndrome d'Aase-Smith II Síndrome Aase Síndrome de Aase Síndrome de Aase-Smith II Síndrome de Aase-Smith II Anémie de Blackfan-Diamond Blackfan-Diamond anemia Diamond-Blackfan-Anämie Doença de Blackfan-Diamond Enfermedad de Blackfan-Diamond Malattia di Blackfan-Diamond hrdo:pat_id_43 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 137580 D005879 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22tourette+syndrome%22%5BMeSH+Terms%5D+OR+%28tourette+syndrome%5Bti%5D+NOT+medline%5Bsb%5D%29 F95.2 856 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Enfermedad de Tourette GTS GTS GTS GTS GTS Gilles de la Tourette syndrome Gilles de la Tourette, síndrome de Gilles-de-la-Tourette-Krankheit Gilles-de-la-Tourette-Syndrom Malattia di Tourette SGT ST Sindrome di Gilles de la Tourette Síndrome de Gilles de la Tourette Síndrome de Gilles de la Tourette TS TS TS Tourette disease Tourette-Krankheit Sindrome di Tourette Syndrome de Gilles de la Tourette Síndrome de Tourette Síndrome de Tourette Tourette syndrome Tourette-Syndrom hrdo:pat_id_430 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 210900 D001816 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22bloom+syndrome%22%5BMH%5D+OR+Bloom%27s+syndrome%5Bti%5D+OR+Bloom+syndrome%5BTi%5D Q87.1 Q99.8 125 4434006 C0005859 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 BS Bloom syndrome Bloom-Syndrom Sindrome di Bloom Syndrome de Bloom Síndrome de Bloom Síndrome de Bloom hrdo:pat_id_431 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 114000 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Caffey+dis*%5Bti%5D+OR+Caffey%27s%5Bti%5D+OR+infantile+cortical+hyperostosis%5Btw%5D+OR+Hyperostosis%2C+Cortical%2C+Congenital%5Bmh%5D M89.8 1310 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hiperostosis cortical infantil Hyperostose corticale infantile Hyperostose, infantile kortikale Infantile Cortical Hyperostosis Iperostosi corticale infantile Caffey disease Caffey-Syndrom Doença de Caffey Enfermedad de Caffey Maladie de Caffey Malattia di Caffey hrdo:pat_id_432 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 114580 212050 247650 252250 607644 613108 613953 613956 614162 D002178 10009007 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28chronic%5Ball%5D+AND+mucocutaneous+candidiasis%5Bti%5D%29+OR+candidiasis%2C+chronic+mucocutaneous%5Bmh%5D B37.2 1334 234568006 C0006845 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CMC CMC CMC CMC Chronic mucocutaneous candidosis Candidiasi cronica mucocutanea Candidiasis crónica familiar Candidose cutanéo-muqueuse chronique Candidose, chronische mukokutane Candidíase mucocutânea crónica Chronic mucocutaneous candidiasis hrdo:pat_id_433 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 212350 C538280 Q87.8 1369 C1859317 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sengers syndrome Sengers-Syndrom Sindrome di Sengers Syndrome de Sengers Síndrome de Sengers Cataracte congénitale - cardiomyopathie hypertrophique - myopathie mitochondriale Catarata - miocardiopatia Cataratas congénitas - miocardiopatía hipertrófica - miopatía mitocondrial Cataratta congenita - cardiomiopatia ipertrofica - miopatia mitocondriale Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy Katarakt - Kardiomyopathie hrdo:pat_id_435 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q87.0 1406 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Charlie M syndrome Charlie M-Syndrom Sindrome Charlie M Syndrome Charlie M Síndrome de Charlie M Síndrome de Charlie M hrdo:pat_id_437 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 214900 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28lymphedema+%28cholestasis+OR+jaundice%5Bti%5D%29%29+OR+Aagenaes%5Btw%5D Q82.0 1414 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Aagenaes syndrome Aagenaes, síndrome de Aagenaes-Syndrom Sindrome di Aegenaes Syndrome d'Aagenaes Síndrome de Aagenaes Síndrome de Aagenaes Cholestase - lymphoedème Cholestase-Lymphödem-Syndrom Cholestasis - lymphedema Colestasi - linfedema Colestasis linfedema Síndrome colestase - linfedema hrdo:pat_id_438 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Platyspondyl*+osteochondrodysplasia+AND+akaba%5Bau%5D Q77.8 1417 malformation syndrome Akaba-Hayasaka syndrome Akaba-Hayasaka, síndrome de Akaba-Hayasaka-Syndrom Sindrome di Akaba-Hayasaka Syndrome d'Akaba-Hayasaka Síndrome de Akaba-Hayasaka Síndrome de Akaba-Hayasaka Chondrodysplasie platyspondylique létale Chondrodysplasie, letale - Platyspondylie Condrodisplasia letale con platispondilia Condrodisplasia platiespondilitica letal Condrodisplasia platiespondílica letal Platyspondylic lethal chondrodysplasia hrdo:pat_id_44 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance D014424 10045181 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22turner+syndrome%22%5BMeSH+Terms%5D+OR+%28Turner+Syndrome%5BTi%5D+NOT+medline%5Bsb%5D%29 Q96 881 38804009 C0041408 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 45,X syndrome 45,X-Syndrom 45,X/46,XX syndrome 45,X/46,XX-Syndrom Monosomia X Monosomie X Monosomie de l'X Monosomy X Monossomia X Sindrome 45,X Sindrome 45,X/46,XX Syndrome 45,X Syndrome 45,X/46,XX Síndrome 45,X Síndrome 45,X/46,XX Sindrome di Turner Syndrome de Turner Síndrome de Turner Síndrome de Turner Turner syndrome Turner-Syndrom hrdo:pat_id_442 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance C538304 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Chromosome+18%5Bmh%5D+ring+chromosomes%5Bmh%5D)+OR+ring+chromosome+18%5Btw%5D Q93.2 1442 88154004 C0265475 C2931809 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anel do cromossoma 18 Chromosome 18 en anneau Cromosoma 18 ad anello Cromosoma 18 en anillo Cromossoma 18 em anel Ring chromosome 18 Ringchromosom 18 hrdo:pat_id_443 119600 216330 D002973 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=cleidocranial+dysplasia%5Bmh%5D+OR+cleidocranial+dysplasia%5Bti%5D Q74.0 1452 65976001 C0008928 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Cleidocranial dysostosis Disostose cleidocraniana Displasia cleidocranica Dysostosis cleidocranialis Dysplasie cléido-crânienne Dysplasie, kleidokraniale Cleidocranial dysplasia Disostosi cleidocranica Disostosis cleidocraneal Displasia cleidocraniana Dysostose cléido-crânienne Dysostose, kleidokraniale hrdo:pat_id_444 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 120000 C531623 Q25.1 1455 C2930803 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Aortenisthmusstenose, dominante Autosomal dominant coarctation of aorta Coarctation de l'aorte autosomique dominante Coartación de aorta con transmisión dominante Coartazione dell'aorta a trasmissione dominante Coartação da aorta, dominante hrdo:pat_id_445 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 216550 C536438 10049066 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22cohen+syndrome%22%5Btw%5D+AND+%28abnormalities,+multiple%5Bmh%5D+OR+mental+retardation%5Bmh%5D%29 Q87.8 193 56604005 C0265223 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cohen syndrome Cohen-Syndrom Sindrome di Cohen Syndrome de Cohen Síndrome de Cohen Síndrome de Cohen hrdo:pat_id_446 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 209770 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Aural+atresia+mental+retardation+cooper Q87.8 1488 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atresia delle orecchie - anomalie congenite multiple - ritardo mentale Atresia do canal auditivo - anomalias congénitas múltiplas - atraso mental Atrésia do canal auditivo - anomalias congénitas múltiplas - atraso mental Atrésie auriculaire - malformations congénitales multiples - déficit intellectuel Aural atresia - multiple congenital anomalies - intellectual deficit Gehörgangsatresie - multiple kongenitale Fehlbildungen - geistige Retardierung Cooper-Jabs syndrome Cooper-Wang-Jabs-Syndrom Sindrome di Cooper-Wang-Jabs Syndrome de Cooper-Jabs Síndrome de Cooper-Wang-Jabs Síndrome de Cooper-Wang-Jabs hrdo:pat_id_447 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 217990 Q04.0 200 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Esporádica Esporádico Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X Sporadic Sporadic Sporadica Sporadique Sporadisch X-chromosomal-rezessiv X-linked recessive X-linked recessive morphological anomaly 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 Agenesia aislada del cuerpo calloso Agenesia do corpo caloso, isolada Agenesia isolata del corpo calloso Agénésie isolée du corps calleux Corpus callosum-Agenesie, isolierte Form Isolated corpus callosum agenesis hrdo:pat_id_448 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 218000 C536446 neant G60.0 1496 C0795950 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Andermann syndrome Andermann, síndrome de Andermann-Syndrom Charlevoix disease Charlevoix, doença de Charlevoix-Krankheit Doença de Charlevoix Maladie de Charlevoix Malattia di Charlevoix Sindrome di Andermann Syndrome d'Andermann Síndrome de Andermann Agenesia de cuerpo calloso - neuropatía Agenesia del corpo calloso - neuropatia Agenesia do corpo caloso - neuronopatia Agénesie du corps calleux - neuropathie Corpus callosum agenesis - neuronopathy Corpus callosum-Agenesie - Neuropathie hrdo:pat_id_45 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 229300 601992 D005621 10017374 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22friedreich+ataxia%22%5BMeSH+Terms%5D+OR+Friedreich+ataxia%5BText+Word%5D G11.1 95 10394003 C0016719 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Friedreich'sche Ataxie Atassia di Friedreich Ataxia de Friedreich Ataxia de Friedreich Ataxie de Friedreich Friedreich ataxia Friedreich-Ataxie hrdo:pat_id_450 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 123155 Q03.1 Q75.0 1538 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Braddock-Jones-Superneau syndrome Braddock-Jones-Superneau, síndrome de Braddock-Jones-Superneau-Syndrom Sindrome di Braddock-Jones-Superneau Syndrome de Braddock-Jones-Superneau Síndrome de Braddock-Jones-Superneau Craneosinostosis - malformación de Dandy-Walker - hidrocefalia Craniosinostosi - malformazione di Dandy-Walker - idrocefalo Craniossinostose - Dandy-Walker - hidrocefalia Craniosynostose - Dandy-Walker - hydrocéphalie Craniosynostosis - Dandy-Walker - hydrocephalus Kraniosynostose - Dandy-Walker-Malformation - Hydrozephalus hrdo:pat_id_4510 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 153700 neant H35.5 1243 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Degenerazione maculare vitelliforme Distrofia macular viteliforme Distrofia vitelliforme Dystrophia vitelliformis Dystrophie vitelliforme Dégénérescence maculaire vitelliforme Makuladegeneration, vitelliforme Vitelliform macular dystrophy Best disease Best-Krankheit Doença de Best Enfermedad de Best Maladie de Best Malattia di Best hrdo:pat_id_4511 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 612416 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=factor+xi+deficiency%5Bmajr%5D D68.1 329 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Deficit del fattore di Rosenthal Deficit dell'antecedente plasmatico della tromboplastina (PTA) Déficit del antecedente de la tromboplastina plasmática (PTA) Déficit del factor Rosenthal Déficit en PTA Déficit en facteur Rosenthal Déficit en plasma thromboplastin antecedent Emofilia C Hemofilia C Hemophilia C Hämophilie C Hémophilie C PTA deficiency Plasma thromboplastin antecedent deficiency Plasma-Thromboplasmin-Antecedent (PTA)-Mangel Rosenthal factor deficiency Rosenthal syndrome Rosenthal-Faktor-Mangel Rosenthal-Syndrom Sindrome di Rosenthal Syndrome de Rosenthal Síndrome de Rosenthal Congenital factor XI deficiency Deficit congenito del fattore XI Deficiência congénita de fator XI Déficit congénital en facteur XI Déficit congénito del factor XI Faktor XI-Mangel, kongenitaler hrdo:pat_id_454 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 219250 C536226 Q82.8 1556 C0345419 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cutis marmorata telagiectásica congénita Cutis marmorata telangectasica congenita Cutis marmorata telangiectasia congénita Cutis marmorata telangiectatica congenita Cutis marmorata telangiectatica congenita Cutis marmorata teleangiectatica congenita hrdo:pat_id_455 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q03.1 1564 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Dandy Walker - facial hemangioma Dandy-Walker - hemangioma facial Dandy-Walker - hémangiome facial Dandy-Walker-Malformation - Gesichts-Hämangiom Emangioma facciale di Dandy Walker Hemangioma facial - Dandy-Walker hrdo:pat_id_456 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 220200 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Dandy+walker+malformation%5Bti%5D+OR+Dandy+walker+syndrome%5Bti%5D+OR+Dandy+walker+syndrome%5Bmh%5D Q03.1 217 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel morphological anomaly 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Dandy-Walker-Fehlbildung Dandy-Walker-Malformation, isolierte Isolated Dandy-Walker malformation Malformación de Dandy-Walker aislada Malformation de Dandy-Walker isolée Malformazione isolata di Dandy-Walker Malformação de Dandy-Walker hrdo:pat_id_457 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 261630 C537896 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=dihydropteridine+reductase/df%5Bmajr%5D E70.1 226 58256000 C0268465 C2936906 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown DHPR-Mangel Fenilcetonúria tipo 2 Fenilchetonuria, tipo 2 Hiperfenilalaninemia por deficiência de diidropteridina redutase Hyperphenylalaninemia due to dihydropteridine reductase deficiency Hyperphenylalaninämie durch Dihydropteridinreduktase-Mangel Hyperphenylalaninämie mit Tetrahydrobiopterin-Mangel, C Hyperphénylalaninémie par déficit en dihydroptéridine réductase Iperfenilalaninemia da deficit di diidropteridina PKU type 2 Phenylketonuria type 2 Phenylketonurie Typ 2 Phénylcétonurie type 2 Deficit di diidropteridina reduttasi Deficiência de diidropteridina redutase Dihydropteridine reductase deficiency Dihydropteridinreduktase-Mangel Déficit de Dihidropteridina reductasa Déficit en dihydroptéridine réductase hrdo:pat_id_458 Variabel Variabile Variable Variable Variable Variable Variável 612874 C538234 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=amp+deaminase/df%5Bmh%5D+OR+%28Myoadenylate+deaminase%5Btw%5D+AND+%28deficiency%5Bsh%5D+OR+deficiency%5Btw%5D%29%29 E79.8 M79.1 45 124525004 9105005 C0268123 C2931781 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 AMP deaminase deficiency Déficit en AMP déaminase Déficit en myoadénylate deaminase Myoadenylate deaminase deficiency Adenosine monophosphate deaminase deficiency Adenosinmonophosphat-Desaminase-Mangel Deficit di adenosina monofosfato deaminasi Deficiência de adenosina monofosfato desaminase Déficit de adenosina monofosfato deaminasa Déficit en adénosine monophosphate désaminase hrdo:pat_id_459 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 207900 D056807 10058299 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Argininosuccinate+Lyase+deficiency E72.2 23 41013004 C0268547 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Argininbernsteinsäure-Krankheit Argininosuccinase deficiency Argininosuccinase, deficiência de Argininsuccinat-Lyase-Mangel Deficit di argininosuccinasi Deficiência de Argininosuccinase Déficit de arginosuccinasa Déficit en argininosuccinase Aciduria argininosuccinica Aciduria argininosuccínica Acidurie argininosuccinique Acidúria argininosuccínica Argininosuccinic aciduria Argininosuccino-Azidurie hrdo:pat_id_461 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 237300 10058297 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Carbamoyl+Phosphate+Synthase%5Btw%5D+deficiency E72.2 147 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CPS1 deficiency CPS1-Mangel Carbamoyl phosphate synthetase 1 deficiency Carbamoyl-Phosphat-Synthetase 1-Mangel Deficit di CPS1 Deficit di carbamoil-fosfato sintetasi 1 Déficit CPS1 Déficit de carbamil-fosfato sintetasa 1 Déficit en CPS1 Déficit en carbamoyl-phosphate synthase I Carbamoyl-Phosphat-Synthetase-Mangel Carbamoylphosphate synthetase deficiency Deficit di carbamoil-fosfato sintetasi Deficiência de carbamoilfosfato sintetase Déficit de carbamil-fosfato sintetasa Déficit en carbamoyl-phosphate synthétase hrdo:pat_id_462 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance D009100 10028176 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=multiple+carboxylase+deficiency%5Bmh%5D+OR+Multiple+carboxylase+defi*%5Bti%5D+OR+holocarboxylase+synthetase+defi*%5Bti%5D+OR+biotinidase+defi*%5Bti%5D E53.8 148 C0026755 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown MCD MCD Deficit multiplo di carbossilasi Deficiência múltipla de carboxilases Déficit multiple en carboxylases Déficit múltiple de carboxilasas Multiple carboxylase deficiency Multipler Carboxylase-Mangel hrdo:pat_id_463 Variabel Variabile Variable Variable Variable Variable Variável 307030 C538138 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Hyperglycerolemia%5Ball%5D+OR+glycerol+kinase/df+OR+glycerol+kinase+deficiency%5Btw%5D E74.8 408 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficiência de glicerol cinase Glicerol cinase, deficiência de Hiperglicerolemia Hyperglycerinämie Hyperglycerolemia Hyperglycérolémie Iperglicerolemia Deficit isolato di glicerolo-chinasi Déficit de glicerol quinasa aislado Déficit isolé en glycérol kinase Glycerol-Kinase-Mangel, isolierter Hiperglicerolemia Isolated glycerol kinase deficiency hrdo:pat_id_465 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 236250 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=methylenetetrahydrofolate+reductase/df+OR+Methylenetetrahydrofolate+reductase%5Btw%5D+%28df%5Bsh%5D+OR+deficien*%5Btw%5D%29 E72.1 395 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficit di MTHFR Deficit di metilene-tetraidrofolato reduttasi Deficiência de MTHFR Déficit en MTHFR Déficit en méthylènetétrahydrofolate réductase Homocistinúria por deficiência de MTHFR Hyperhomocysteinämie durch MTHFR-Mangel MTHFR deficiency MTHFR, deficiência de MTHFR-Mangel Methylen-Tetrahydrofolat-Reduktase-Mangel Methylenetetrahydrofolate reductase deficiency Deficiência de metilenotetraidrofolato redutase Homocistinuria por déficit de metilentetrahidrofolato reductasa Homocystinuria due to methylenetetrahydrofolate reductase deficiency Homocystinurie durch Methylen-Tetrahydrofolat-Reduktase-Mangel Homocystinurie par déficit en méthylènetétrahydrofolate réductase Omocistinuria da deficit di metilene-tetraidrofolato reduttasi hrdo:pat_id_467 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 245348 245349 246900 312170 608782 614111 C536257 D015325 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Pyruvate+dehydrogenase+deficiency%5Bti%5D+OR+Pyruvate+Dehydrogenase+Complex+Deficiency+Disease%5Bmh%5D E74.4 765 46683007 C0034345 C2936911 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Dominant lié à l'X Dominante legata all'X Dominante ligado al X Esporádica Esporádico Ligado ao X dominante Sporadic Sporadic Sporadica Sporadique Sporadisch X-chromosomal-dominant X-linked dominant X-linked dominant disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficiencia de piruvato deshidrogenasa Deficiencia del complejo piruvato deshidrogenasa Deficit del complesso della piruvato deidrogenasi Déficit del complejo piruvato deshidrogenasa Déficit en complexe pyruvate déshydrogénase PDH PDH PDH PDH PDHC PDHC PDHC PDHC PDHc Pyruvat-Dehydrogenase-Komplex-Mangel Pyruvate dehydrogenase complex deficiency Deficit della piruvato deidrogenasi Deficiência de piruvato desidrogenase Déficit de piruvato deshidrogenasa Déficit en pyruvate déshydrogénase Pyruvat-Dehydrogenase-Mangel Pyruvate dehydrogenase deficiency hrdo:pat_id_468 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 252150 272300 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=sulfite+oxidases/df%5Bmh%5D+OR+%28Sulfite+oxidase%5Btw%5D+AND+%28deficiency%5Bsh%5D+OR+deficien*%5Btw%5D%29%29 E72.1 833 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficiencia combinada de sulfito oxidasa, xantina deshidrogenasa y aldehído oxidasa Deficiencia de sulfito oxidasa aislada Deficiencia de sulfito oxidasa por deficiencia del cofactor molibdeno Deficit combinato di solfito ossidasi, xantina deidrogenasi e aldeide ossidasi Deficit di solfito ossidasi dovuto al deficit del cofattore molibdeno Deficit isolato di solfito ossidasi Déficit combinado de sulfito oxidasa, xantina deshidrogenasa y aldehído oxidasa Déficit de sulfito oxidasa aislado Déficit de sulfito oxidasa por déficit del cofactor molibdeno Encefalopatía por deficiencia de sulfito oxidasa ISOD ISOD ISOD Sulfitoxidase, Xanthin-Dehydrogenase und Aldehyd-Oxidase, kombinierter Mangel Sulfitoxidase-Mangel durch Molybdän-Kofaktor-Mangel Sulfitoxidase-Mangel, isolierter Sulfocistinuria Sulfocistinuria Deficiência de sulfito oxidase Encefalopatia da deficit di solfito ossidasi Encefalopatía por déficit de sulfito oxidasa Encephalopathy due to sulfite oxidase deficiency Encéphalopathie par déficit en sulfite oxydase Enzephalopathie durch Sulfitoxidase-Mangel hrdo:pat_id_470 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=diencephalic+syndrome%5Bti%5D C72.8 1672 237733001 C0342436 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Diencefálico síndrome Diencephalic syndrome Dienzephalisches Syndrom Sindrome diencefalica Syndrome diencéphalique Síndrome diencefálico hrdo:pat_id_472 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 223370 C535718 10059589 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Dubowitz+syndrome%5Btw%5D Q87.1 235 2593002 C0175691 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dubowitz syndrome Dubowitz-Syndrom Sindrome di Dubowitz Syndrome de Dubowitz Síndrome de Dubowitz Síndrome de Dubowitz hrdo:pat_id_473 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 223800 304950 C535726 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Dyggve+Melchior+Clausen%5Btw%5D Q77.7 239 82699004 C0265286 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Doença de Dyggve-Melchior-Clausen Dyggve-Melchior-Clausen disease Dyggve-Melchior-Clausen-Syndrom Sindrome di Dyggve-Melchior-Clausen Syndrome de Dyggve-Melchior-Clausen Síndrome de Dyggve-Melchior-Clausen hrdo:pat_id_474 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 223900 D004402 10039179 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=dysautonomia%2Cfamilial%5Bmh%5D+OR+Familial+dysautonomia%5BTi%5D+OR+Riley+day%5Bti%5D G90.1 1764 29159009 C0013364 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 HSAN 3 HSAN3 Hereditary sensory and autonomic neuropathy type 3 Neuropathie sensitive et autonomique héréditaire type 3 Neuropathie, autonome hereditäre sensorische, Typ 3 Neuropatia autonoma e sensoriale ereditaria, tipo 3 Neuropatia autonómica e sensitiva hereditária tipo 3 Neuropatía sensitiva y autonómica hereditaria tipo 3 Riley-Day Syndrom Riley-Day syndrome Riley-Day, síndrome de Sindrome di Riley-Day Syndrome de Riley-Day Síndrome de Riley-Day Síndrome de Riley-Day Disautonomia familiar Disautonomia familiare Disautonomía familiar Dysautonomie familiale Dysautonomie, familiäre Familial dysautonomia hrdo:pat_id_476 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 233430 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=46+XY+gonadal+dysgenesis+ectodermal+mesodermal Q99.1 1770 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 XY-Gonadendysgenesie mit assoziierten Anomalien Disgenesia gonadal anomalías múltiples Disgenesia gonadal tipo XY, anomalias associadas Disgenesia gonadica - anomalie multiple Dysgénésie gonadique - anomalies multiples Gonadal dysgenesis, XY type - associated anomalies Gonadendysgenesie XY-Typ - multiple Fehlbildungen hrdo:pat_id_477 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 127550 224230 305000 613987 613988 613989 613990 615190 D019871 10062759 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22dyskeratosis+congenita%22%5BMeSH+Terms%5D+OR+Dyskeratosis+congenita%5BTi%5D Q82.8 1775 74911008 C0265965 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 DKC DKC DKC DKC DKC DQC Sindrome di Zinsser-Engman-Cole Syndrome de Zinsser-Engman-Cole Síndrome de Zinsser-Cole-Engman Zinsser-Engman-Cole syndrome Discheratosi congenita Disqueratose congénita Disqueratosis congénita Dyskeratosis congenita Dyskeratosis congenita Dyskératose congénitale hrdo:pat_id_478 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 263750 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Postaxial+acrofacial+dysostosis%5Btw%5D+OR+Genee+Wiedemann%5Btw%5D+OR+Miller+syndrome%5Btw%5D Q75.4 246 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acro-dysostose postaxiale Acrofacial dysostosis, Genee-Wiedmann type Disostosi acrofacciale, tipo Genee-Wiedmann Dysososis mandibulo-faciale avec anomalies post-axiales des extrémités Dysostose acrofaciale type Genee-Wiedmann Dysostose, akrofaziale, Typ Genee-Wiedemann Mandibulfacial dysostosis with postaxial limb anomalies Miller syndrome Miller, síndrome de Miller-Syndrom POADS POADS POADS POADS Postaxial acrodysostosis Sindrome di Miller Syndrome de Miller Síndrome de Miller Síndrome de Miller Disostose acrofacial pós-axial Disostosi acrofacciale postassiale Disostosis acrofacial postaxial Dysostose acrofaciale post-axiale Dysostose, akrofaziale postaxiale Postaxial acrofacial dysostosis hrdo:pat_id_479 neant Q77.8 1819 malformation syndrome Displasia epimetafisaria dominante Displasia epimetafisaria dominante Displasia óssea epimetafisária Dysplasie épimétaphysaire autosomique dominante Epimetaphyseal skeletal dysplasia Skelettdysplasie, epimetaphysäre dominante hrdo:pat_id_481 143400 601331 D021782 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(kidney+dysplasia%5Bti%5D+OR+renal+dysplasia%5Bti%5D)+(cystic+kidney%5Btw%5D+OR+Kidney+Diseases,+Cystic%5Bmh%5D) Q61.4 1851 204962002 C0345335 morphological anomaly Displasia renal difusa Displasia renal difusa, forma autossómica recessiva Nierendysplasie, diffuse Displasia renal quística difusa Displasia renal, multiquística Displasia renale multicistica Dysplasie rénale multikystique Multicystic renal dysplasia Nierendysplasie, multizystische hrdo:pat_id_484 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 128230 605407 612716 C538007 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=dystonia%5Bmajr%5D+AND+dopa%5Bmajr%5D+AND+%28segawa%5Btw%5D+OR+%22dopa+responsive%22%5Btw%5D%29 G24.8 255 C1851920 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo group of phenomes 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 DYT5 DYT5 DYT5 DYT5 DYT5 Distonia progressiva hereditária com variação diurna marcada Segawa syndrome Segawa, síndrome de Segawa-Syndrom Sindrome di Segawa Syndrome de Segawa Síndrome de Segawa Síndrome de Segawa Distonia Dopa-sensibile Distonia sensível à dopa Distonía dopa-sensible Dopa-responsive dystonia Dystonie dopa-sensible Dystonie, Dopa-responsive hrdo:pat_id_485 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 224700 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=ebstein%27s+anomaly%5Bti%5D+OR+Ebstein+anomaly%5Bti%5D+OR+ebstein%27s+anomaly%5Bmh%5D Q22.5 1880 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown morphological anomaly 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Anomalia della valvola tricuspide di Ebstein Anomalie d'Ebstein de la valve tricuspide Anomalía de Ebstein de la válvula tricúspide Ebstein anomaly of the tricuspid valve Ebstein-Anomalie der Trikuspidalklappe Anomalia de Ebstein Ebstein malformation Ebstein-Malformation Malformación de Ebstein Malformation d'Ebstein Malformazione di Ebstein hrdo:pat_id_486 Variabel Variabile Variable Variable Variable Variable Variável 129600 225100 225200 C536184 D004479 10014145 neant Q12.1 1885 74969002 C0013581 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Ectopia aislada del cristalino Ectopia del cristalino familiar Ectopia del cristallino familiare Ectopia del cristallino isolata Ectopia lentis familiar Ectopia lentis, familiäre Ectopia lentis, isolierte Ectopie du cristallin isolée Familial ectopia lentis Isolated ectopia lentis Ectopia del cristallino sindromica Ectopia lentis isolada Ectopia lentis syndrome Ectopia lentis-Syndrom Ectopie du cristallin familiale Síndrome de ectopia cristaliniana hrdo:pat_id_487 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance D005310 10016845 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=fetal+alcohol+syndrome%5Bmajr%5D+OR+fetal+alcohol+syndrome%5Bti%5D Q86.0 1915 205788004 C0015923 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Alcohol antenatal infection Alkoholembryopathie Embriofetopatia alcoólica Exposición prenatal al alcohol Exposition anténatale à l'alcool SAF Sindrome feto-alcolica Syndrome d'alcoolisation foetale Syndrome d'alcoolisme foetal Syndrome de Lemoine Embriopatia alcolica Embriopatía alcohólica Embryopathie alcoolique Fetal alcohol syndrome Fetales Alkoholsyndrom Síndrome alcoólico fetal hrdo:pat_id_488 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=parvovirus+b19,+human%5Bmajr%5D+AND+parvoviridae+infections%5Bmajr%5D+AND+neonatal+diseases+and+abnormalities%5Bmh%5D& P35.8 295 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Infección prenatal por parvovirus Infection anténatale au parvovirus Infecção pré-natal por parvovírus Infezione prenatale da parvovirus Infeção pré-natal por parvovírus Parvovirus antenatal infection Parvovirus-Infektion, vorgeburtliche Embriopatia da parvovirus Embriopatía por parvovirus Embryopathie à parvovirus Fetal parvovirus syndrome Parvovirus-Embryopathie Síndrome de Parvovírus fetal hrdo:pat_id_489 Q01.0 1931 253103006 clinical subtype Anterior encephalocele Encefalocele anteriore Encefalocelo anterior Encéphalocèle antérieur Enzephalozele, vordere Encefalocele frontal Encefalocele frontale Encefalocelo frontal Encéphalocèle frontal Enzephalozele, frontale Frontal encephalocele hrdo:pat_id_49 Adulte jeune Adultos jóvenes Giovani adulti Jovem adulto Junge Erwachsene Young adult Young adult Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 219700 D003550 10011762 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22cystic+fibrosis%22%5BMeSH+Terms%5D+OR+%28%28Cystic+fibrosis%5BText+Word%5D+OR+mucoviscidosis%5BTW%5D%29+NOT+medline%5BSB%5D%29 E84 586 190905008 C0010674 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 CF CF CF FC FQ Fibrose kystique du pancréas Mucoviscidose Mucoviscidosi Mucoviscidosis Mucoviscidosis Mukoviszidose Cystic fibrosis Fibrose quística Fibrosi cistica Fibrosis quística Mucoviscidose Zystische Fibrose hrdo:pat_id_491 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 612073 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=mitochondrial+encephalomyopathy+aminoacidopathy+deafness 1933 Herencia mitocondrial Hérédité mitochondriale Mitochondrial inheritance Mitochondrial inheritance Mitochondriale Vererbung Modo de hereditariedade mitocondrial Trasmissione mitocondriale clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Booth-Haworth-Dilling syndrome Booth-Haworth-Dilling, síndrome de Encefalomiopatia mitocondriale - aminoacidopatia Encefalomiopatía mitocondrial - aminoacidopatía Encéphalomyopathie mitochondriale - aminoacidopathie Mitochondrial encephalomyopathy - aminoacidopathy Sindrome da deplezione del mtDNA, forma encefalomiopatica con aciduria metilmalonica Sindrome di Booth-Haworth-Dilling Syndrome de Booth-Haworth-Dilling Syndrome de déplétion de l'ADNmt forme encéphalomyopathique avec acidurie méthylmalonique Síndrome de Booth-Haworth-Dilling Síndrome de Booth-Haworth-Dilling Síndrome de depleción del ADNmt, forma encefalomiopática con aciduria metilmalónica mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria Encefalomiopatia aminoacidopatia mitocondrial Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria Mitochondriales DNA-Depletionssyndrom, enzephalomyopathische Form mit Methylmalonazidurie Sindrome da deplezione del DNA mitocondriale, forma encefalomiopatica con aciduria metilmalonica Syndrome de déplétion de l'ADN mitochondrial forme encéphalomyopathique avec acidurie méthylmalonique Síndrome de depleción del ADN mitocondrial, forma encefalomiopática con aciduria metilmalónica hrdo:pat_id_492 C537851 neant 2005 C1859083 malformation syndrome Novak syndrome Novak, síndrome de Sindrome di Novak Syndrome de Novak Síndrome de Novak Síndrome de Novak Fenda laringo-traqueo-esofágica - hipoplasia pulmonar Fente laryngo-trachéo-oesophagienne - hypoplasie pulmonaire Hendidura laringotraqueoesofágica - hipoplasia pulmonar Laryngo-tracheo-esophageal cleft - pulmonary hypoplasia Laryngo-tracheo-ösophageale Spalte - pulmonale Hypoplasie Schisi laringo-tracheo-esofagea - ipoplasia polmonare hrdo:pat_id_493 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 255310 300580 neant G71.2 2020 240084007 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CFTDM Congenital fiber-type disproportion myopathy Desproporção congénita de fibras Miopatia da disproporzione congenita del tipo di fibra Miopatía congénita por desproporción del tipo de fibra Myopathie congénitale avec disproportion des types de fibres musculaires Myopathie, kongenitale, mit Fasertyp-Disproportion hrdo:pat_id_494 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 193700 277720 C535483 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Freeman+Sheldon%5Btw%5D Q87.0 2053 52616002 C0265224 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Arthrogrypose distale type 2A Arthrogrypose, distale, Typ 2A Artrogripose distal tipo 2A Artrogriposi distale, tipo 2A Artrogriposis distal tipo 2A Craniocarpotarsal dysplasia Craniocarpotarsal dystrophy Displasia cranio-carpo-tarsale Displasia cráneo carpo tarsal Distal arthrogryposis type 2A Distrofia cranio-carpo-tarsale Distrofia cranio-carpo-társica (displasia) Distrofia cráneo carpo tarsal Face du siffleur Face em assobio, síndrome de Kraniokarpotarsale Dystrophie (Dysplasie) Sindrome con faccia da "fischiatore" Syndrome cranio-carpo-tarsien Síndrome de face em assobio Síndrome de la cara de silbido Whistling face syndrome Whistling-face-Syndrom Freeman-Sheldon syndrome Freeman-Sheldon-Syndrom Sindrome di Freeman-Sheldon Syndrome de Freeman-Sheldon Síndrome de Freeman-Sheldon Síndrome de Freeman-Sheldon hrdo:pat_id_498 Variabel Variabile Variable Variable Variable Variable Variável 256540 C536411 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Galactosialidos*%5Bti%5D+OR+%28beta-galactosidase/df+AND+neuraminidase/df%29+OR+Carboxypeptidase+C/df E77.1 351 35691006 C0268233 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficit di neuraminidasi beta-galattosidasi Deficiência de neuraminidase beta-galactosidase Déficit de neuraminidasa beta-galactosidasa Déficits en neuraminidase et bêta-galactosidase Goldberg syndrome Goldberg, síndrome de Goldberg-Syndrom Neuraminidase beta-galactosidase, deficiência de Neuraminidase deficiency with beta-galactosidase deficiency Neuraminidase-beta-Galaktosidase-Mangel Sindrome di Goldberg Syndrome de Goldberg Síndrome de Goldberg Síndrome de Goldberg Galactosialidose Galactosialidose Galactosialidosis Galactosialidosis Galaktosialidose Galattosialidosi hrdo:pat_id_499 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 164210 D006053 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22goldenhar+syndrome%22%5BMeSH+Terms%5D+OR+Goldenhar+syndrome%5BText+Word%5D+OR+Oculoauriculovertebral%5Btiab%5D Q87.0 374 15557005 205418005 254026007 367462009 C0265240 C0432130 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Craniofacial microsomia Displasia oculo-auricolo-vertebrale (OAV) Displasia óculo-auriculo-vertebral (OAV) Dysplasie OAV Dysplasie facio-auriculo-vertébrale Dysplasie oculo-auriculo-vertébrale Dysplasie, okulo-aurikulo-vertebrale Facioauriculovertebral dysplasia Microsomia emifacciale Microsomie cranio-faciale Microssomia hemifacial Mikrosomie, kraniofaziale OAV dysplasia OAVS OAVS Oculoauriculovertebral dysplasia Oculoauriculovertebral spectrum Oculoauriculovertebral syndrome Okulo-Aurikulo-Vertebrales Syndrom Syndrom des ersten und zweiten Kiemenbogens Syndrome oculo-auriculo-vertébrale Goldenhar syndrome Goldenhar-Syndrom Sindrome di Goldenhar Syndrome de Goldenhar Síndrome de Goldenhar Síndrome de Goldenhar hrdo:pat_id_5 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 208400 C538402 D054880 10068220 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Aspartylglucosaminuria%5Bti%5D+OR+%28Lysosomal+Storage+Diseases%5Bmh%5D+AND+Aspartylglucosylaminase%5Bmajr%5D%29 E77.1 93 54954004 C0268225 C2931840 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Aspartilglucosaminidase, deficiência de Aspartyl-Glukosaminidase-Mangel Aspartylglucosaminidase deficiency Deficit di aspartilglucosaminidasi Deficiência de aspartilglucosaminidase Déficit de aspartilglucosaminidasa Déficit en aspartylglucosaminidase Aspartilglicosaminúria Aspartilglucosaminuria Aspartilglucosaminuria Aspartylglucosaminuria Aspartylglucosaminurie Aspartylglukosaminurie hrdo:pat_id_50 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 604131 D017085 10043390 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=alpha-thalassemia%5Bmajr%5D D56.0 846 36467003 68913001 C0002312 C1456873 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Thalassémie alpha Alfa talasemia Alfa talassemia Alfa-talassemia Alpha-Thalassämie Alpha-thalassemia Alpha-thalassémie hrdo:pat_id_500 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 241800 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Congenital+hypothalamic+hamartoma+syndrome[ti] D33.0 2113 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CHHS CHHS CHHS CHHS Congenital hypothalamic hamartoma syndrome Hamartomas hipotalámicos Sindrome dell'amartoma ipotalamico congenito Syndrom des kongenitalen hypothalamischen Hamartoms Syndrome congénital d'hamartome hypothalamique Síndrome hamartoma hipotalâmico congénito hrdo:pat_id_5013 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 182940 301410 601634 D016135 10041524 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%28%22spinal+dysraphism%22%5BTI%5D+OR+Spina+Bifida%5BTi%5D%29+NOT+Medline%5BSB%5D%29+OR+%22spinal+dysraphism%22%5BMeSH+Terms%5D Q05 823 67531005 C0080178 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Espina bífida aislada Espinha bífida Isolated spina bifida Spina bifida isolata Spina bifida isolée Spina bifida, isolierte hrdo:pat_id_5014 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 206500 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=anencephaly%5Bmajr%5D+OR+Anencephaly%5BTi%5D Q00.0 1048 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anencefalia Anencefalia/exencefalia aislada Anencefalia/exencefalia isolata Anencéphalie/exencéphalie isolée Anenzephalie/Exenzephalie, isolierte Isolated anencephaly/exencephaly hrdo:pat_id_5015 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 604273 G71.3 1194 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Complexo 5 da cadeia respiratória mitocondrial, deficiência de Deficit di ATP sintasi causato da deficit di TMEM70 Deficiência de complexo 5 da cadeia respiratória mitocondrial Encefalo-cardio-miopatía mitocondrial por déficit de ATP sintasa Encefalo-cardio-miopatía mitocondrial por déficit de F1Fo ATPasa Encefalo-cardio-miopatía mitocondrial por déficit del complejo 5 de la cadena respiratoria mitocondrial Encefalo-cardio-miopatía mitocondrial por déficit del complejo V de la cadena respiratoria mitocondrial Encefalocardiomiopatia mitocondriale da deficit del complesso V della catena respiratoria mitocondriale Encefalocardiomiopatia mitocondriale da deficit di ATP sintasi Encefalocardiomiopatia mitocondriale da deficit di F1Fo ATPasi Encéphalo-cardio-myopathie mitochondriale par déficit en ATPsynthase Encéphalo-cardio-myopathie mitochondriale par déficit en F1Fo ATPase Encéphalo-cardio-myopathie mitochondriale par déficit en complexe V de la chaîne respiratoir Enzephalokardiomyopathie, durch mitochondrialen Atmungskettendefekt im Komplex 5 Enzephalokardiomyopathie, mitochondriale, durch ATP-Synthase-Mangel Enzephalokardiomyopathie, mitochondriale, durch F1FO-ATPase-Mangel Mitochondrial encephalo-cardio-myopathy due to ATP synthase deficiency Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency Mitochondrial encephalo-cardio-myopathy due to mitochondrial respiratory chain complex V deficiency Deficiência de ATP sintetase Encefalo-cardio-miopatía mitocondrial por déficit de TMEM70 Encefalocardiomiopatia mitocondriale da deficit di TMEM70 Encéphalo-cardio-myopathie mitochondriale due au déficit en TMEM70 Enzephalokardiomyopathie, mitochondriale, durch TMEM70-Mangel Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency hrdo:pat_id_5016 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 202370 266510 601539 614863 614867 614871 614873 614877 614885 614920 D052919 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=infantile%5Btw%5D+AND+%28refsum+disease%5Bti%5D+OR+Peroxisomal+Disorders%5Bmh%3Anoexp%5D%29 G60.1 772 238062008 C0282527 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown IRD IRD IRD Refsum-Krankheit, infantile Form Doença de Refsum do lactente Enfermedad de Refsum infantil Infantile Refsum disease Maladie de Refsum infantile Malattia di Refsum, forma infantile Refsum-Syndrom, infantiles hrdo:pat_id_502 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 234500 D006250 10019165 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22hartnup+disease%22%5BTi%5D+OR+Hartnup+disorder%5Bti%5D+OR+Hartnup+syndrome%5BTi%5D+OR+%22hartnup+disease%22%5BMH%5D E72.0 2116 124208000 80902009 C0018609 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Aminoaciduria, Hartnup type Aminoaciduria, tipo Hartnup Aminoacidurie type Hartnup Hartnup disorder Maladie de Hartnup Malattia di Hartnup Hartnup syndrome Hartnup-Syndrom Sindrome di Hartnup Syndrome de Hartnup Síndrome de Hartnup Síndrome de Hartnup hrdo:pat_id_503 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 140350 C535845 E70.2 2118 414380008 C2931042 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown 4-HPPD deficiency 4-HPPD-Mangel 4-alfa-hidroxifenilpiruvato hidroxilase, deficiência de 4-alpha-Hydroxyphenylpyruvat- Hydroxylase-Mangel 4-alpha-Hydroxyphenylpyruvat-Dioxygenase-Mangel 4-alpha-hydroxyphenylpyruvate hydroxylase deficiency 4-hydroxyphenylpyruvic acid dioxygenase deficiency Deficit di 4-alfa-idrossifenilpiruvato idrossilasi Deficiência de 4-alfa-hidroxifenilpiruvato hidroxilase Déficit de 4-alfa-hidroxifenilpiruvato hidroxilasa Déficit en 4-HPPD Déficit en 4-alpha-hydroxyphénylpyruvate hydroxylase Déficit en 4-hydroxyphénylpyruvate dioxygénase Hawkinsinuria Hawkinsinuria Hawkinsinuria Hawkinsinurie Hawkinsinurie Hawkinsinúria hrdo:pat_id_504 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 231100 C536394 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hemochromatosis%5Bmajr%5D+AND+infant,newborn%5Bmh%5D+NOT+%28adult%5Bmh%5D+OR+adolescence%5Bmh%5D%29 E83.1 446 6160004 C0268059 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Emocromatosi neonatale Hemocromatose neonatal Hemocromatosis neonatal Hämochromatose, neonatale Hémochromatose néonatale Neonatal hemochromatosis hrdo:pat_id_505 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis 248910 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=mastocytosis+Skin+hearing+loss+microcephaly Q82.2 2135 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Mastocitose - baixa estatura - surdez Mastocitosi - bassa statura - sordità Mastocitosis - talla baja - sordera Mastocytose - petite taille - surdité Mastocytosis - short stature - hearing loss Mastozytose - Kleinwuchs - Taubheit Hennekam-Beemer syndrome Hennekam-Beemer-Syndrom Sindrome di Hennekam-Beemer Syndrome de Hennekam-Beemer Síndrome de Hennekam-Beemer Síndrome de Hennekam-Beemer hrdo:pat_id_506 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 142340 222400 306950 610187 C538080 10010439 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28hernia%2C+diaphragmatic%5Bmh%5D+OR+Diaphragmatic+hernia%5Bti%5D%29+%28congenital%5Bsh%5D+OR+congenital%5Btw%5D%29 Q79.0 2140 17190001 C0235833 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Agenesia diafragmática Agenesia diaframmatica Agénésie diaphragmatique CDH CDH Diaphragmatic agenesia Zwerchfellagenesie Congenital diaphragmatic hernia Ernia diaframmatica Hernia diafragmática congénita Hernie diaphragmatique congénitale Hérnia diafragmática congénita Zwerchfellhernie, kongenitale hrdo:pat_id_507 236600 neant Q03 2185 malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Congenital hydrocephalus Hidrocefalia autossómica recessiva Hidrocefalia congénita Hydrocéphalie congénitale Hydrozephalus, autosomal-rezessiver Idrocefalo congenito hrdo:pat_id_508 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 239200 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28hyperparathyroidism%5Bmh%5D+OR+Hyperparathyroidism%5Bti%5D%29+AND+%28infant%2Cnewborn%5Bmh%5D+OR+neonatal%5Btw%5D%29+AND+severe%5Btw%5D E21.0 417 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown NSHPT NSHPT NSHPT Hiperparatiroidismo primario neonatal grave Hiperparatiroidismo primário grave neonatal Hyperparathyroidismus, neonataler primärer Hyperparathyroïdie primitive sévère néonatale Iperparatiroidismo primitivo neonatale Neonatal severe primary hyperparathyroidism hrdo:pat_id_51 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613985 D017086 10043391 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=beta+thalass*%5Bti%5D+OR+beta-thalassemia%5Bmh%5D D56.1 848 65959000 79592006 C0005283 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo group of phenomes 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Anemia de Cooley Thalassémie bêta Beta talassemia Beta-Thalassämie Beta-talasemia Beta-talassemia Beta-thalassemia Bêta-thalassémie hrdo:pat_id_510 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 2233 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cantalamessa-Baldini-Ambrosi syndrome Cantalamessa-Baldini-Ambrosi, síndrome de Cantalamessa-Baldini-Ambrosi-Syndrom Syndrome de Cantalamessa-Baldini-Ambrosi Síndrome de Cantalamessa-Baldini-Ambrosi Hipogonadismo - prolapso da válvula mitral - atraso mental Hipogonadismo - prolapso de válvula mitral - déficit intelectual Hypogonadism - mitral valve prolapse - intellectual deficit Hypogonadisme - prolapsus de la valve mitrale - déficit intellectuel Hypogonadismus - Mitralklappenprolaps - geistige Retardierung Ipogonadismo - prolasso della valvola mitrale - ritardo mentale hrdo:pat_id_511 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 241550 614435 D018636 10021076 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hypoplastic+left+heart+syndrome%5Bmh%5D+OR+hypoplastic+left+heart+syndrome%5BTi%5D Q23.4 2248 62067003 C0152101 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown morphological anomaly 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 HLHS Hypoplasie du coeur gauche Hypoplastic left heart syndrome Hypoplastisches Linksherzsyndrom Ipoplasia del cuore sinistro Síndrome de coração esquerdo hipoplástico Síndrome del corazón izquierdo hipoplásico hrdo:pat_id_512 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 136520 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Foveal+hypoplasia%5Btw%5D+AND+%28cataract%5Bmh%5D+OR+cataract*%5Bti%5D%29 H26.0 2253 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 O Donnell-Pappas syndrome O'Donnell-Pappas, síndrome de O-Donnell-Pappas-Syndrom Sindrome di O'Donnell-Pappas Syndrome d'O'Donnell-Pappas Síndrome de O'Donnell-Pappas Síndrome de O'Donnell-Pappas Foveahypoplasie - Katarakt, präseniler Typ Foveal hypoplasia - presenile cataract Hipoplasia da fóvea - catarata pré-senil Hipoplasia foveal - catarata presenil Hypoplasie fovéale - cataracte pré-sénile Ipoplasia della fovea - cataratta presenile hrdo:pat_id_515 243150 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=multiple%5Bti%5D+intestinal+atresia Q43.8 2300 morphological anomaly Familial intestinal polyatresia syndrome Poliatresia intestinal familiar, síndrome de Polyatresie, intestinale Polyatrésie intestinale Síndrome de Poliatresia intestinal familiar Atresia intestinal múltipla Atresia intestinal múltiple Atresia intestinale multipla Atrésies multiples de l'intestin Intestinalatresien, multiple Multiple intestinal atresia hrdo:pat_id_516 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=short+bowel%5Btw%5D+(neonatal+OR+infants) Q41.9 2301 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive morphological anomaly Congenital short bowel syndrome Intestino corto congenito Intestino corto congénito Intestino curto congénito Kurzdarm-Syndrom, kongenitales Syndrome de l'intestin court congénital hrdo:pat_id_517 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 229600 D005633 10019878 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22fructose+intolerance%22%5BMeSH+Terms%5D+OR+fructose+intolerance%5BText+Word%5D E74.1 469 20052008 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Deficiencia hereditaria de fructosa-1-fosfato aldolasa Deficit ereditario di fruttosio-1-fosfato aldolasi Deficiência hereditária de frutose-1-fosfato aldolase Déficit hereditario de fructosa-1-fosfato aldolasa Déficit héréditaire en fructose-1-phosphate aldolase Fructosemia hereditaria Fructosémie congénitale Fruktose-1-Phosphataldolase-Mangel, hereditärer Fruktosämie, kongenitale Frutose-1-fosfato aldolase, deficiência hereditária de Frutosemia hereditária Fruttosemia ereditaria Hereditary fructose-1-phosphate aldolase deficiency Hereditary fructosemia Fruktoseintoleranz Hereditary fructose intolerance Intolerancia hereditaria a la fructosa Intolerância à frutose Intolleranza ereditaria al fruttosio Intolérance au fructose héréditaire hrdo:pat_id_518 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 147791 D054868 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Jacobsen%5Btw%5D+or+11q+deletion%5Btw%5D+or+11q+monosomy%5Btw%5D%29+AND+Chromosome+Deletion%5Ball%5D Q93.5 2308 4325000 C0795841 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 11q-Syndrom DEL11q ter DEL11q ter DEL11q23.3 DEL11q23.3 Del 11q23.3 Deletion 11q Delezione 11q distale Delezione 11q telomerica Deleção 11q Distal deletion 11q Distal monosomy 11q Distale Deletion 11q Délétion distale 11q Délétion partielle 11q Délétion télomérique 11q Monosomia 11q distale Monosomia 11q parziale Monosomia 11qter Monosomie 11qter Monosomie 11qter Monosomie distale 11q Monosomy 11qter Monossomia parcial 11q Partial deletion 11q Telomeric deletion 11q Jacobsen syndrome Jacobsen-Syndrom Sindrome di Jacobsen Syndrome de Jacobsen Síndrome de Jacobsen Síndrome de Jacobsen hrdo:pat_id_519 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 243910 608091 610188 612285 614424 614465 614844 neant H35.5 Q04.3 Q61.5 2318 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Arima syndrome Arima-Syndrom CORS CORS CORS CORS CORS Cerebello-oculo-renal syndrome Coloboma corio-retiniano - aplasia do vermis do cerbelo Dekaban-Arima syndrome Dekaban-Arima, síndrome de Dekaban-Arima-Syndrom JS Typ B JS tipo B JS type B JS type B JS type B JS-OR JS-OR JS-OR JS-OR JS-OR Joubert syndrome with Senior-Loken syndrome Joubert-Syndrom mit Senior-Loken-Syndrom Sindrome cerebello-oculo-renale Sindrome di Arima Sindrome di Dekaban-Arima Sindrome di Joubert associata a sindrome di Senior-Loken Syndrome cérébello-oculo-rénal Syndrome d'Arima Syndrome de Dekaban-Arima Syndrome de Joubert avec syndrome de Senior-Loken Síndrome cerebelo-oculo-renal Síndrome de Arima Síndrome de Dekaban-Arima Síndrome de Dekaban-Arima Síndrome de Joubert con síndrome de Senior-Loken Zerebello-okulo-renales Syndrom Joubert syndrome with oculorenal defect Joubert-Syndrom mit okulo-renalem Defekt Sindrome di Joubert associata a difetto oculorenale Syndrome de Joubert avec atteinte oculo-rénale Síndrome de Joubert - coloboma corio-retiniano bilateral Síndrome de Joubert con defecto óculo-renal hrdo:pat_id_520 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 148210 242150 602540 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=kid+syndrome%5Btw%5D+OR+Keratitis+ichthyosis+deafness%5Btw%5D Q80.8 477 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Ictiosis histrix-like - sordera/queratitis - ictiosis - sordera Ittiosi istrice-simile - sordità - cheratite KID/HID syndrome KID/HID-Syndrom Keratitis - ichthyosis - deafness/Hystrix-like ichthyosis - deafness Keratitis-Ichthyose-Taubheit/Hystrix-ähnliche Ichthyose-Gehörlosigkeit Kératite - ichtyose - surdité/Ichtyose hystrix like - surdité Kératite - ichtyose - surdité/Ichtyose hystrix-like - surdité Queratite - Ictiose - surdez Queratitis- ictiosis- sordera / Hystrix-like ictiosis-sordera Senter syndrome Senter-Syndrom Sindrome di Senter Syndrome KID/HID Syndrome de Senter Síndrome HID Síndrome KID/HID Síndrome de Senter KID syndrome KID-Syndrom Sindrome KID/HID Syndrome KID Síndrome KID Síndrome KID hrdo:pat_id_521 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 148800 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Cloverleaf+skull%5Bti%5D Q75.0 2343 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Kleeblattschaedel syndrome Kleeblattschaedel, síndrome de Kleeblattschädel-Deformität Syndrome de Kleeblattschaedel Síndrome de Kleeblattschaedel Síndrome de Kleeblattschaedel Crâne en trèfle isolé Isolated cloverleaf skull syndrome Kleeblattschädel-Syndrom, isoliertes Sindrome isolata del cranio a ''trifoglio'' Síndrome crânio em trevo Síndrome del cráneo en trébol aislado hrdo:pat_id_523 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 149000 608355 neant Q87.2 2346 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Klippel-Trenaunay-Weber syndrome Klippel-Trenaunay-Weber-Syndrom Sindrome di Klippel-Trenaunay-Weber Syndrome de Klippel-Trenaunay-Weber Síndrome de Klippel-Trenaunay-Weber Angio-osteo-hypertrophisches Syndrom Angio-osteohypertrophic syndrome Sindrome angio-osteoipertrofica Syndrome angio-ostéohypertrophique Síndrome angio-osteo-hipertrófico Síndrome angio-osteo-hipertrófico hrdo:pat_id_526 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 150230 C536555 D015826 10050638 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Langer+Giedion%5Btw%5D+OR+%28trichorhinophalangeal+syndrome%5Btw%5D+AND+type+II%5Btw%5D%29 Q87.8 502 41069008 C0023003 C2931237 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deletion 8q24.1 Delezione 8q24.1 Dysplasie, tricho-rhino-phalangeale, Typ 2 Délétion 8q24.1 Monosomia 8q24.1 Monosomie 8q24.1 Monosomy 8q24.1 Multiple kartilaginäre Exostosen - periphere Dysostose Sindrome trico-rino-falangea, tipo 2 Syndrome tricho-rhino-phalangien type 2 Síndrome Trico-rino-falângico tipo 2 Trichorhinophalangeal syndrome type 2 Trico-rino-falângico tipo 2, síndrome Langer-Giedion syndrome Langer-Giedion-Syndrom Sindrome di Langer-Giedion Syndrome de Langer-Giedion Síndrome de Langer-Giedion Síndrome de Langer-Giedion hrdo:pat_id_527 608545 Q77.8 2370 malformation syndrome Enanismo - laxitud ligamentosa - retraso de crecimiento Nanisme - laxité ligamentaire - retard de croissance Nanismo - lassità legamentosa - ritardo di crescita Displasia ossea Larsen-simile - nanismo Displasia ósea tipo Larsen - enanismo Displasia óssea tipo Larsen - nanismo Dysplasie osseuse Larsen-like - nanisme Larsen-like osseous dysplasia - short stature Larsen-ähnliches Syndrom - Knochendysplasie - Kleinwuchs hrdo:pat_id_529 150280 D055092 10060786 Q31.5 2373 253737007 C0345160 malformation syndrome Congenital laryngomalacia Laringomalacia congenita Laringomalacia congénita, dominante Laringomalacia dominante congénita Laryngomalacie congénitale Laryngomalazie, kongenitale hrdo:pat_id_530 150360 10023871 neant Q31.0 2374 47070001 C0152416 malformation syndrome Gay-Feinmesser-Cohen, síndrome de Gay-Feinmesser-Cohen-Syndrom Síndrome de Gay-Feinmesser-Cohen Síndrome de Gay-Feinmesser-Cohen Anomalía de la laringe - cardiopatía - talla baja Congenital laryngeal web Larynxnetz, kongenitales Membrana laringeale congenita Palmure congénitale du larynx Teia laringeal congénita - cardiopatia - baixa estatura hrdo:pat_id_531 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 245800 D007849 10056710 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28laurence+moon+syndrome%5Bmajr%5D+OR+Laurence+Moon%5Bti%5D%29+NOT+%28renal+OR+kidney+OR+kidney+diseases%5Bmh%5D+OR+Bardet+Biedl*%5Btw%5D%29 Q87.8 2377 232059000 C0023138 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Laurence-Moon syndrome Laurence-Moon-Syndrom Sindrome di Laurence-Moon Syndrome de Laurence-Moon Síndrome de Laurence-Moon Síndrome de Laurence-Moon hrdo:pat_id_532 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 220111 256000 308930 D007888 10062950 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=leigh+disease+OR+Leigh+syndrome%5Btw%5D G31.8 506 29570005 C0023264 C0751267 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Herencia mitocondrial Hérédité mitochondriale Ligado ao X recessivo Mitochondrial inheritance Mitochondrial inheritance Mitochondriale Vererbung Modo de hereditariedade mitocondrial Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X Trasmissione mitocondriale X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Encefalomiopatia necrosante infantile subacuta Encefalopatia necrotizante sub-aguda infantil Encéphalomyopathie nécrosante subaiguë Infantile subacute necrotizing encephalopathy Leigh disease Maladie de Leigh Malattia di Leigh Doença de Leigh Leigh syndrome Leigh-Syndrom Sindrome di Leigh Syndrome de Leigh Síndrome de Leigh hrdo:pat_id_534 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 265300 C537727 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Pulmonary%5Bti%5D+AND+%28lymphangiectasis%5Bti%5D+OR+lymphangiectasis%5Bmh%3Anoexp%5D+OR+lymphangiectasia*%5Bti%5D%29 Q33.8 2414 45142002 C0265800 C1849554 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Linfangectasie polmonari cistiche Linfangiectasia quística pulmonar Linfangiomatose pulmonar Linfangiomatosi polmonare Linfangiomatosis pulmonar Lymphangiomatose pulmonaire Lymphangiomatose, pulmonale Pulmonary lymphangiomatosis Congenital pulmonary lymphangiectasia Linfangectasia polmonare Linfangiectasia pulmonar Linfangiectasias quísticas pulmonares Lymphangiectasie pulmonaire congénitale Lymphangiektasie, pulmonale, kongenitale hrdo:pat_id_535 153630 C531735 Q38.2 2430 270516002 C0009677 malformation syndrome Congenital macroglossia Macroglosia dominante Macroglossia dominante Macroglossia dominante Macroglossie congénitale Makroglossie, dominante Form hrdo:pat_id_536 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=epilepsy+Macrogyria+pseudobulbar+palsy+mental+retardation Q04.8 2431 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Central bilateral macrogyria Macrogiria - parésia pseudo-bulbar Macrogiria bilaterale centrale Macrogiria central bilateral Macrogyrie centrale bilatérale Makrogyrie, bilaterale zentrale hrdo:pat_id_537 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance D012779 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Short+Rib+Polydactyly+Syndrome%5Bmh%5D+OR+Short+Rib+Polydactyly%5Btw%5D Q77.2 1505 205484001 C0036996 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Costillas cortas-polidactilia síndrome Kurzrippen-Polydaktylie-Syndrome Short rib-polydactyly syndrome Sindrome della costa corta-polidattilia Syndrome des côtes courtes-polydactylie Síndrome de costela curta - polidactilia hrdo:pat_id_538 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=cystic+adenomatoid+malformation+of+lung,+congenital%5Bmajr%5D Q33.0 2444 malformation syndrome CCAM CCAM CCAM CCAM CPAM Congenital pulmonary airway malformation of the lung Lungenfehlbildung, kongenitale Malformacion congénita de las vías aéreas pulmonares Malformation congénitale des voies aériennes pulmonaires Malformazione congenita delle vie aeree polmonari Malformação adenomatóide quística do pulmão hrdo:pat_id_540 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 154780 C536025 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Marshall+syndrome%5Btw%5D Q87.0 560 33410002 C0265235 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Marshall syndrome Marshall-Syndrom Sindrome di Marshall Syndrome de Marshall Síndrome de Marshall Síndrome de Marshall hrdo:pat_id_541 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 303350 C536029 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=MASA+syndrome%5Btw%5D G11.4 2466 C0795953 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Gareis-Mason-Syndrom Intellectual defici-aphasia-shuffling gait-adducted thumbs syndrome Intelligenzminderung - Aphasie - schlurfender Gang - adduzierte Daumen SPG1 Sindrome deficit cognitivo-afasia-andatura strascicata-pollici addotti Spastische Paraplegie, X-chromosomale, Typ 1 Syndrome de déficit intellectuel-aphasie-brachybasie-pouces en adduction Síndrome de déficit intelectual - afasia - marcha arrastrando los pies - pulgares en aducción MASA syndrome MASA-Syndrom Sindrome MASA Syndrome MASA Síndrome MASA Síndrome MASA hrdo:pat_id_542 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 157900 218100 D020331 10030069 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%28%22mobius+syndrome%22%5BTw%5D+OR+Moebius+syndrome%5BText+Word%5D%29+NOT+Medline%5BSB%5D%29+OR+%22mobius+syndrome%22%5BMeSH+Terms%5D Q87.0 570 C0221060 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Congenital facial diplegia Diplegia congenita facciale Diplegia facial congénita Diplegie, faziale kongenitale Diplégie congénitale faciale Möbius syndrome Syndrome de Möbius Moebius syndrome Moebius-Syndrom Sindrome di Moebius Syndrome de Moebius Síndrome de Moebius Síndrome de Moebius hrdo:pat_id_543 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 158320 D055653 10063042 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Muir+Torre+syndrome%5Btw%5D C18 D23 587 403824007 C1321489 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Kératoacanthome multiple de Muir-Torre Multiple keratoacanthoma, Muir-Torre type Muir-Torre syndrome Muir-Torre-Syndrom Sindrome di Muir-Torre Syndrome de Muir-Torre Síndrome de Muir-Torre Síndrome de Muir-Torre hrdo:pat_id_545 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 602668 D020967 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Proximal+myotonic+myopathy%5BTW%5D+OR+promm%5Btw%5D+OR+Myotonic+dystrophy+type+2%5Btw%5D G71.1 606 C0752354 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Distrofia miotonica prossimale Distrofia miotonica, tipo 2 Distrofia miotónica de tipo 2 Distrofia miotónica proximal Distrofia miotónica proximal Distrofia miotónica tipo 2 Dystrophie myotonique proximale Dystrophie myotonique type 2 Dystrophie, myotone proximale Dystrophie, myotone, Typ 2 Enfermedad de Ricker Maladie de Ricker Malattia di Ricker Myotonic dystrophy type 2 PROMM Proximal myotonic dystrophy Ricker disease Ricker syndrome Ricker, síndrome de Ricker-Syndrom Sindrome di Ricker Syndrome de Ricker Síndrome de Ricker Síndrome de Ricker Miopatia miotonica prossimale Miopatia miotónica proximal Miopatía miotónica proximal Myopathie myotonique proximale Myopathie, myotone proximale Proximal myotonic myopathy hrdo:pat_id_546 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 156530 C537356 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Metatropic%5Btw%5D+AND+%28dwarfism%5Bmh%5D+OR+dwarfism%5Btw%5D+OR+dysplasia%5Ball%5D%29 Q77.8 2635 22764001 C0265281 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia metatrópica tipo 1 Enanismo metatrópico Kleinwuchs, metatroper Metatropic dwarfism Nanisme métatropique Nanismo metatropico Displasia metatropica, tipo 1 Displasia metatrópica tipo 1 Dysplasie métatropique Dysplasie, metatrope, Typ 1 Metatropic dysplasia type 1 Nanismo metatrópico hrdo:pat_id_547 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 10049808 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%28%22thanatophoric+dysplasia%22%5BTw%5D+OR+Thanatophoric+dwarfism%5BTW%5D%29+NOT+Medline%5BSB%5D%29+OR+%22thanatophoric+dysplasia%22%5BMH%5D Q77.1 2655 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Displasia tanatofórica Enanismo tanatofórico Kleinwuchs, thanatophorer Nanisme thanatophore Nanismo tanatoforo Thanatophoric dwarfism Displasia tanatofora Displasia tanatofórica Dysplasie thanatophore Dysplasie, thanatophore Nanismo tanatofórico Thanatophoric dysplasia hrdo:pat_id_548 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 256700 613013 613014 613015 613016 613017 C536408 D009447 10029260 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=neuroblastoma%5Bmajr%5D C47 635 432328008 87364003 C0027819 C2931189 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Neural crest tumor Simpatoblastoma Simpatoblastoma Sympathoblastom Sympathoblastoma Sympathoblastome Tumeur de la crête neurale Tumor da crista neural Tumor de la cresta neural Tumor der Neuralleiste Tumore della cresta neurale Neuroblastom Neuroblastoma Neuroblastoma Neuroblastoma Neuroblastoma Neuroblastome hrdo:pat_id_549 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 163200 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Nevus+sebaceus%5Bti%5D+OR+sebaceous+nevus%5Bti%5D%29+syndrome+OR+Schimmelpenning%5Btw%5D+OR+sebaceous+nevus+jadassohn Q85.8 2612 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Naevus sebaceus Typ Jadassohn Naevus sebaceus-Syndrom Nevo sebaceo di Jadassohn Nevo sebáceo de Jadassohn Nevo sebáceo de Jadassohn Nevus Sebaceus of Jadassohn Nevus sebaceus syndrome Nevus sébacé de Jadassohn Organoid nevus syndrome Schimmelpenning syndrome Schimmelpenning, síndrome de Schimmelpenning-Syndrom Sindrome del nevo organoide Sindrome del nevo sebaceo Sindrome di Schimmelpenning Sindrome di Solomon Solomon syndrome Solomon-Syndrom Syndrome de Schimmelpenning Syndrome de Solomon Syndrome du nevus organoïde Syndrome du nevus sébacé Síndrome de Schimmelpenning Síndrome de Schimmelpenning Síndrome de Solomon Síndrome del nevo organoide Síndrome del nevo sebáceo Talgdrüsennaevus Jadassohn Linear nevus sebaceus syndrome Sindrome del nevo sebaceo lineare Syndrom des linearen Naevus sebaceus Syndrome du nevus sébacé linéaire Síndrome Nevo sebáceo Síndrome del nevo sebáceo lineal hrdo:pat_id_55 Adulte jeune Adultos jóvenes Giovani adulti Jovem adulto Junge Erwachsene Young adult Young adult Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=muscular+dystrophy%5Bmajr%5D+AND+%28duchenne%5Btw%5D+OR+becker%5Btw%5D%29 G71.0 262 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Distrofinopatia Distrofinopatia di Duchenne e Becker Distrofinopatía de Duchenne y Becker Dystrophinopathie de Duchenne et Becker Dystrophinopathie vom Typ Duchenne und Becker Myopathie de Duchenne et Becker Severe dystrophinopathy, Duchenne and Becker type Distrofia muscolare di Duchenne e Becker Distrofia muscular de Duchenne y Becker Distrofia muscular, tipos Duchenne e Becker Duchenne and Becker muscular dystrophy Duchenne and Becker muscular dystrophy Dystrophie musculaire de Duchenne et Becker hrdo:pat_id_551 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 164750 310980 10030308 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=omphalocele%5Bti%5D+OR+omphalocoele%5Bti%5D+OR+exomphalos%5Bti%5D+OR+umbilical+hernia%5Bti%5D+OR+hernia%2C+umbilical%5Bmajr%5D Q79.2 660 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Exónfalos Omphalocele Omphalocèle Omphalozele Onfalocele Onfalocele Onfalocelo hrdo:pat_id_5517 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 107320 D016736 10002817 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=antiphospholipid+syndrome%5Bmh%5D+OR+Antiphospholipid+Synd*%5Bti%5D+OR+antibodies%2C+antiphospholipid%5Bmh%5D D68.6 80 26843008 C0085278 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 APS APS APS APS APS Anti-Phospholipid-Antikörper-Syndrom Anticoagulante lúpico familiar Antiphospholipid Antibody Syndrome Familial lupus anticoagulant Hughes syndrome Hughes-Syndrom Lupus anti-coagulante familiar Lupus anticoagulante familiare Lupus-Antikoagulopathie, familiäre SAPL Sindrome da anticorpi antifosfolipidi Sindrome di Hughes Syndrome de Hughes Syndrome des anticorps antiphospholipides Síndrome de Hughes Síndrome de anticuerpos antifosfolípidos Anti-Phospholipid-Syndrom Antiphospholipid syndrome Sindrome da antifosfolipidi Syndrome des antiphospholipides Síndrome anti-fosfolípido Síndrome antifosfolípido hrdo:pat_id_5518 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável D004320 10013618 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=dracunculiasis%5Bmajr%5D B72 231 396334002 C0013100 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Dracunculosis Drakontiase Filariose de Médine Guinea worm disease Maladie du ver de Guinée Medina worm disease Medinensis Dracunculiasi Dracunculiasis Dracunculiose Dracunculose Dracunculosis Drakunkulose hrdo:pat_id_5519 Variabel Variabile Variable Variable Variable Variable Variável 10016675 B74.0 B74.1 B74.2 2035 240820001 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Filariose linfática Filariose lymphatique Filariosi linfatica Filariosis linfática Lymphatic filariasis Lymphatische Filariose hrdo:pat_id_552 607313 H49.4 2744 disease HGPPS HGPPS HGPPS HGPPS HGPPS Oftalmoplegia esterna progressiva e scoliosi Oftalmoplejía externa progresiva y escoliosis Ophtalmoplégie externe progressive et scoliose Progressive external ophthalmoplegia and scoliosis Progressive externe Ophthalmoplegie - Skoliose Horizontal gaze palsy with progressive scoliosis Horizontale Blickparese - Skoliose Oftalmoplegia progressiva externa - escoliose Paralisi orizzontale dello sguardo con scoliosi progressiva Paralysie horizontale du regard avec scoliose progressive Parálisis de la mirada horizontal con escoliosis progresiva hrdo:pat_id_5520 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 246900 neant E74.4 2394 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown 'Malattia della urine a ''sciroppo d'acero'' con deficit di E3' Ahornsirup-Krankheit, E3-defiziente DLD deficiency DLD-Mangel Deficiencia de dihidrolipoamida deshidrogenasa Deficiencia de piruvato deshidrogenasa E3 Deficit di DLD Deficit di diidrolipoamide deidrogenasi Deficiência de diidrolipoamida desidrogenase Dihydro-Lipoamid-Dehydrogenase-Mangel Dihydrolipoamide dehydrogenase deficiency Diidrolipoamida desidrogenase, deficiência de Déficit de DLD Déficit de dihidrolipoamida deshidrogenasa Déficit en DLD Déficit en dihydrolipoamide déshydrogénase E3-deficient maple syrup urine disease Enfermedad de jarabe de arce con déficit de E3 Leucinose avec déficit en E3 Maladie du sirop d'érable avec déficit en E3 Deficit di E3 della piruvato deidrogenasi Deficiência de lipoamida desidrogenase Déficit de piruvato deshidrogenasa E3 Déficit en pyruvate déshydrogénase E3 Pyruvat-Dehydrogenase E3-Mangel Pyruvate dehydrogenase E3 deficiency hrdo:pat_id_5521 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D008118 B74.3 2404 44250009 C0023968 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Filariose à Loa-Loa Loaose Loase Loiasi Loiasiose Loiasis Loiasis Loiasis hrdo:pat_id_5522 Variabel Variabile Variable Variable Variable Variable Variável B74.4 2459 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Mansonelliasis Mansonellose Mansonellose Mansonellosi Mansonellosis Mansonellosis hrdo:pat_id_5525 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D014924 D016706 10058493 10064056 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=adult+onset+still%27s+disease%5Btw%5D+OR+still%27s+disease%2C+adult+onset%5Bmh%5D M06.1 829 239920006 68190001 C0043195 C0085253 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Sindrome di Wissler-Fanconi Syndrome de Wissler-Fanconi Síndrome de Wissler-Fanconi Wissler-Fanconi syndrome Wissler-Fanconi, síndrome de Wissler-Fanconi-Syndrom Adult Still's disease Doença de Still de início tardio Enfermedad de Still del adulto Maladie de Still de l'adulte Malattia di Still a esordio nell'adulto Still-Syndrom, adultes hrdo:pat_id_5527 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 182990 207790 D016080 10049005 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28arachnoid+cyst*%5Bti%5D+NOT+Medline%5Bsb%5D%29+OR+arachnoid+cysts%5Bmajr%5D G93.0 2356 33595009 C0078981 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Arachnoid cyst Arachnoidalzyste Cisti aracnoidee Kyste arachnoïdien Quiste aracnoideo Quisto da aracnóide hrdo:pat_id_5528 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter D053578 10053854 neant 1183 230350000 C0393626 C1096154 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Ataxia opsoclonia mioclonia Ataxo-opso-myoclonus syndrome Dancing Eye (Tanzendes Auge)-Syndrom Dancing Eye syndrome Kinsbourne syndrome Kinsbourne, síndrome de Kinsbourne-Syndrom Opsomyoklonus-Ataxie-Syndrom Opsomyoklonus-Syndrom Sindrome di Kinsbourne Syndrome ataxo-opso-myoclonus Syndrome de Kinsbourne Syndrome des yeux dansants Syndrome opsoclonus-myoclonus Síndrome de Kinsbourne Síndrome de Kinsbourne Ataxia - opsoclonia - mioclonia Opsoclonus-myoclonus syndrome Opsoklonus-Myoklonus-Syndrom Sindrome opsoclonia-mioclonia Syndrome d'opsoclonie-myoclonie Síndrome opsoclonus-mioclonus hrdo:pat_id_5529 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter C535291 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Rasmussen+encephalitis%5Btw%5D+OR+(Rasmussen%5Bti%5D+encephalitis%5Bti%5D) G04.8 1929 230191005 C2930868 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Rasmussen syndrome Rasmussen, síndrome de Sindrome di Rasmussen Syndrome de Rasmussen Síndrome de Rasmussen Encefalite sub-aguda de Rasmussen Encefalite subacuta di Rasmussen Encefalitis focal de Rasmussen Encéphalite focale de Rasmussen Rasmussen subacute encephalitis Rasmussen-Enzephalitis hrdo:pat_id_553 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 258480 C537122 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Opsismodysplasia%5Btw%5D Q78.8 2746 254068007 C0432219 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Opsimodisplasia Opsismodisplasia Opsismodisplasia Opsismodysplasia Opsismodysplasie Opsismodysplasie hrdo:pat_id_5530 D012202 10039012 G93.7 3096 74351001 C0035400 disease Reye-Sequenz Reye's syndrome Reye-Syndrom Sindrome di Reye Syndrome de Reye Síndrome de Reye Síndrome de Reye hrdo:pat_id_5532 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(chondrodysplasia+punctata%5Bmh%5D+NOT+chondrodysplasia+punctata,+rhizomelic%5Bmh%5D)+OR+(chondrodysplasia+punctata%5Btw%5D+(%22non+rhizomelic%22)) Q77.3 176 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-dominant X-chromosomal-rezessiv X-linked dominant X-linked dominant X-linked recessive X-linked recessive group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Chondrodysplasia punctata, nicht-rhizomeler Typ Chondrodysplasie ponctuée non rhizomélique Condrodisplasia pontuada não rizomélica Condrodisplasia punctata, tipo no rizomélico Condrodisplasia puntata, tipo non rizomelico Non-rhizomelic chondrodysplasia punctata hrdo:pat_id_5533 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável D006504 10047216 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hepatic+veno-occlusive+disease%5Bmajr%5D K76.5 890 65617004 C0019156 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Sindrome da ostruzione dei sinusoidi Sinusoidal obstruction syndrome Sinusoidales Obstruktionssyndrom Syndrome d'obstruction sinusoïdale Doença veno-oclusiva hepática Enfermedad veno-oclusiva hepática Hepatic veno-occlusive disease Lebervenen-Verschlusskrankheit Maladie veino-occlusive hépatique Malattia veno-occlusiva epatica hrdo:pat_id_5534 Variabel Variabile Variable Variable Variable Variable Variável 162800 C536227 10053176 D70 2686 191347008 C0221023 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Cyclic neutropenia Neutropenia ciclica Neutropenia cíclica Neutropenia cíclica Neutropenie, zyklische Neutropénie cyclique hrdo:pat_id_5535 607847 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=neutropenia%5Bti%5D+idiopathic D70 2688 disease Adult idiopathic neutropenia Neutropenia idiopatica dell'adulto Neutropenia idiopática del adulto Neutropenia idiopática do adulto Neutropenie, adulte idiopathische Neutropénie idiopathique de l'adulte hrdo:pat_id_5536 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 260400 10067940 neant D61.0 811 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Congenital lipomatosis of pancreas Lipomatose congénita do pâncreas Lipomatose congénitale du pancréas Lipomatosi congenita del pancreas Lipomatosis congénita de páncreas Pankreaslipomatise, kongenitale Shwachman-Diamond syndrome Shwachman-Diamond-Syndrom Sindrome di Shwachman-Diamond Syndrome de Shwachman-Diamond Síndrome de Shwachman-Diamond Síndrome de Shwachman-Diamond hrdo:pat_id_5537 2689 disease Intermittent neutropenia Neutropenia intermitente Neutropenia intermitente Neutropenia intermittente Neutropenie, intermittierende Neutropénie intermittente hrdo:pat_id_5538 2687 disease Neutropenia - hyperlymphocytosis with large granular lymphocytes Neutropenia e hiperlinfocitose com linfócitos granulares grandes Neutropenia e iperlinfocitosi a grandi linfociti granulari Neutropenia y hiperlinfocitosis en grandes linfocitos granulosos Neutropenie und Hyperlymphozytose mit großen granulären Lymphozyten Neutropénie et hyperlymphocytose à grands lymphocytes granuleux hrdo:pat_id_5540 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 135580 C537929 D005352 10054794 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=fibromuscular+dysplasia%5Bmajr%5D+AND+arteries%5Bmajr%5D I77.3 336 359553002 C0016052 C1851111 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Displasia fibromuscular arterial Displasia fibromuscular das artérias Dysplasie fibromusculaire artérielle Fibrodisplasia muscolare arteriosa Fibromuscular dysplasia of arteries Fibromuskuläre Dysplasie der Arterien hrdo:pat_id_5541 157700 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Mitral+valve+prolapse%5Bti%5D+OR+Mitral+valve+prolapse%5Bmajr%5D)+(familial+OR+genetics+OR+hereditary+OR+inherited) Q23.3 741 233858000 C0340364 morphological anomaly Familial mitral valve prolapse Mitralklappenprolaps, familiärer Prolapso da válvula mitral familiar Prolapso valvular mitral, familiar Prolapsus valvulaire mitral familial Prolasso familiare della valvola mitrale hrdo:pat_id_5543 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 146200 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28genes,+dominant%5Bmh%5D+OR+%22autosomal+dominant%22%5Btw%5D%29+AND+hypocalcemia%5Bmajr%5D E20.8 428 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown AD hypocalcemia Hipocalcemia AD Autosomal dominant hypocalcemia Hipocalcemia autossómica dominante Hipocalcemia autosómica dominante Hypocalcémie autosomique dominante Hypokalzämie, autosomal-dominante Ipocalcemia autosomica dominante hrdo:pat_id_5544 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant E11 2298 237652003 C0342337 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Insulin-resistance syndrome type B Insulinresistenz-Syndrom Typ B Sindrome da insulino-resistenza, tipo B Syndrome d'insulino-résistance type B Síndrome de resistencia a la insulina tipo B Síndrome de resistência à insulina, tipo B hrdo:pat_id_5545 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 145000 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=primary+hyperparathyroidism%5Bti%5D+(hyperparathyroidism%2Fge+OR+familial%5Bti%5D+OR+hereditary%5Bti%5D+OR+gene%5Bti%5D)+OR+hyperparathyroidism,+primary%2Fge E21.0 2207 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Familial primary hyperparathyroidism Hiperparatiroidismo familiar primario Hiperparatiroidismo primário familiar Hyperparathyreoidismus, familiärer primärer Hyperparathyroïdie primitive familiale Iperparatiroidismo familiare primitivo hrdo:pat_id_5546 278850 400045 D058531 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=((XX%5Bti%5D+(male%5Bti%5D+OR+males%5Bti%5D))+OR+%22XX+males%22)+(humans+OR+patients) Q99.1 393 74398009 C0432475 C2936419 malformation syndrome 46,XX testicular DSD De la Chapelle syndrome De la Chapelle, síndrome de De la Chapelle-Syndrom Sindrome di De la Chapelle Syndrome de De la Chapelle Síndrome de De la Chapelle Síndrome de De la Chapelle XX, male syndrome 46,XX testicular disorder of sex development Sindrome del maschio XX Syndrome du mâle XX Síndrome del varón XX Síndrome homem XX XX-Mann hrdo:pat_id_555 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 259730 267200 C536058 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(carbonic+anhydrase+ii%5Ball%5D+defic*)+OR+(osteopetrosis+(renal+tubular+acidosis)) Q78.2 2785 254122007 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acidose tubulaire rénale mixte Acidose tubulaire rénale type 3 Acidosis tubular renal mixta Acidosis tubular renal tipo 3 Anidrase carbónica II, deficiência de Carbonanhydrase-II-Mangel Carbonic anhydrase 2 deficiency Deficiencia de anhidrasa carbónica 2 Deficit di anidrasi carbonica 2 Deficiência de anidrase carbónica II Déficit de anhidrasa carbónica 2 Déficit en anhydrase carbonique II Enfermedad del cerebro de mármol Guibaud-Vainsel syndrome Guibaud-Vainsel-Syndrom Marble brain disease Mixed RTA Mixed renal tubular acidosis Osteopetrose - acidose tubular renal Osteopetrose - renale tubuläre Azidose RTA mixta Renal tubular acidosis type 3 Sindrome di Guibaud-Vainsel Syndrome de Guibaud-Vainsel Síndrome de Guibaud-Vainsel Osteopetrose ligeira autossómica recessiva, tipo intermédio Osteopetrose, autosomal-rezessive milde, intermediärer Typ Osteopetrosi con acidosi tubulare renale Osteopetrosis con acidosis tubular renal Osteopetrosis with renal tubular acidosis Ostéopétrose avec acidose tubulaire rénale hrdo:pat_id_556 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 239000 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28osteitis+deformans%5Bmh%5D+juvenile%5Btw%5D%29+OR+Chronic+idiopathic+hyperphosphatasia%5Btw%5D+OR+%28juvenile%5Bti%5D+paget*%5Bti%5D%29 M88 2801 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Familial osteoectasia Hereditary hyperphosphatasia Hiperfosfatasia hereditaria Hiperostose cortical deformante juvenil Hiperostosis cortical deformante juvenil Hyperostose corticale déformante juvénile Hyperostosid corticalis deformans juvenilis Hyperostosis corticalis deformans juvenilis Hyperphosphatasie héréditaire Iperfosfatasia ereditaria Iperostosi corticale deformante giovanile JPG JPG JPG JPG Osteoectasia familiar Osteoectasia familiar Osteoectasia familiare Osteoektasie, familiäre Ostéo-ectasie familiale Doença de Paget tipo juvenil Enfermedad de Paget juvenil Juvenile Paget's disease Maladie de Paget juvénile Malattia di Paget, forma giovanile Paget-Syndrom, juveniles hrdo:pat_id_557 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601803 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=tetrasomy+12p%5Btw%5D+OR+Pallister+Killian%5Btw%5D+OR+((chromosomes,+human,+pair+12%5Bmh%5D+OR+%22chromosome+12%22+OR+%2212p%22)+tetrasomy) Q99.8 884 9527009 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Isochromosom 12p, überzähliges Isochromosome 12p en mosaïque Isochromosome 12p mosaicism Isochromosome 12p surnuméraire Isochromosome 12p syndrome Isocromosoma 12p sovrannumerario Isocromossoma 12p, síndrome Pallister-Killian syndrome Pallister-Killian, síndrome de Pallister-Killian-Syndrom Sindrome di Pallister-Killian Syndrome de Pallister-Killian Síndrome de Pallister-Killian Síndrome de Pallister-Killian Síndrome isocromossoma 12p Tetrasomia 12p Tetrasomie 12p Tetrasomy 12p Tetrasomía 12p Tetrassomia 12p Tétrasomie 12p hrdo:pat_id_558 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 274600 C536648 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Pendred+syndrome%5Btw%5D+OR+Pendred%27s+syndrome%5Btw%5D E07.1 705 70348004 C0271829 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Bócio - surdez, síndrome Goiter - deafness Gozzo - sordità Goître - surdité Kropf - Schwerhörigkeit Síndrome Bócio - surdez Pendred syndrome Pendred-Syndrom Sindrome di Pendred Syndrome de Pendred Síndrome de Pendred Síndrome de Pendred hrdo:pat_id_559 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 171000 D010411 10034765 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=peyronie%27s+syndr*%5Bti%5D+OR+peyronie%27s+dis*%5Bti%5D+OR+peyronie+dis*%5Bti%5D+OR+penile+induration%5Bmh%5D N48.6 2870 1335005 C0030848 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Induratio penis plastica Induration plastique des corps caverneux du pénis Plastic induration of penis Peyronie syndrome Peyronie, síndrome de Peyronie-Syndrom Sindrome di La Peyronie Syndrome de La Peyronie Síndrome de Peyronie hrdo:pat_id_560 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(pheochromocytoma%5Bti%5D+OR+paraganglioma*%5Bti%5D+OR+paraganglioma%5Bmh%5D)+secreting+NOT+(%22non+secreting%22) C74.1 C75.5 D35.0 D35.6 717 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Catecholamine-producing tumor Feocromocitoma Katecholamin-produzierender Tumor Tumeur sécrétrice de catécholamines Tumor secretor de catecolaminas Tumore secernente catecolamine hrdo:pat_id_562 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 261800 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22pierre+robin+syndrome%22%5BMH%5D+OR+Pierre+Robin+syndrome%5BTi%5D Q87.0 718 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Isolated Pierre Robin sequence Pierre-Robin, sequência de Pierre-Robin-Syndrom,isoliertes Secuencia de Pierre Robin aislada Sequenza isolata di Pierre Robin Sequência de Pierre-Robin Séquence de Pierre Robin isolée Isolated Pierre Robin syndrome Pierre-Robin-Sequenz, isolierte Sindrome isolata di Pierre Robin Syndrome de Pierre Robin isolé Síndrome de Pierre Robin aislado Síndrome de Pierre-Robin hrdo:pat_id_563 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 162100 10063020 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=brachial+plexus+neuritis[mh]+%28heredit*+OR+familial[tw]+OR+congenital%29+OR+Parsonage+Turner+synd*[tw]+OR+hereditary+neuralgic+amyotrophy%5Btw%5D G54.5 2901 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 Acute brachial plexus neuritis Amiotrofia neurogena della spalla Amiotrofia neurálgica del hombro Amiotrofia neurálgica do ombro Amyotrophie névralgique de l'épaule Brachial plexus neuritis Escápula alada Immune brachial plexus neuropathy Mononeuritis multiplex with brachial predilection Mononeuritis múltiple con predilección braquial Neuralgic shoulder amyotrophy Neuralgische Schultermyatrophie Neuritis aguda del plexo braquial Neuritis del plexo braquial Neuritis por suero Neuropathie immune du plexus brachial Neuropatía inmune del plexo braquial Névrite aiguë du plexus brachial Névrite du plexus brachial Serum neuritis Winged scapula Amiotrofia neurálgica Amyotrophie névralgique Neuralgic amyotrophy Parsonage-Turner-Syndrom Sindrome di Parsonage-Turner Síndrome de Parsonage-Turner hrdo:pat_id_564 173600 J93.1 2903 disease Familial spontaneous pneumothorax Pneumothorax spontané familial Pneumothorax, spontaner familiärer Pneumotorace spontaneo familiare Pneumotorax espontáneo familiar Pneumotórax espontâneo, tipo familiar hrdo:pat_id_565 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 176920 D016715 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Proteus+Syndrome%5BTW%5D+OR+%22proteus+syndrome%22%5BMeSH+Terms%5D Q87.3 744 23150001 C0085261 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Gigantisme partiel - hémihypertrophie - macrocéphalie Gigantismo parcial - nevos - hemihipertrofia - macrocefalia Gigantismo parziale - emipertrofia - macrocefalia Gigantismus - partielle hemihypertrophe Makrozephalie Partial gigantism - nevi - hemihypertrophy - macrocephaly Syndrome de Proteus Proteus syndrome Proteus-Syndrom Sindrome di Proteus Syndrome de Protée Síndrome de Proteus Síndrome de Proteus hrdo:pat_id_566 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 100100 C536477 D011535 10051025 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=prune+belly+syndrome%5Bmh%5D+OR+prune+belly+syndrome%5BTi%5D Q79.4 2970 18241005 5187006 C0033770 C0265363 malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Barriga de ameixa, síndrome de Bauchdeckenaplasie-Syndrom Eagle-Barret syndrome Obstrução uretral, sequência de Sequência de obstrução uretral Sindrome dell'addome a "prugna secca" Syndrome d'Eagle-Barret Séquence d'obstruction de l'urètre Síndrome de barriga de ameixa Urethral obstruction sequence Prune belly syndrome Prune-belly-Syndrom Sindrome ''Prune belly'' Syndrome de prune belly Síndrome 'Prune belly' Síndrome del abdomen en ciruela pasa hrdo:pat_id_567 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 264470 C536662 E71.3 2971 238069004 C0342871 C1849678 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acil-CoA oxidase, deficiência de Acyl-CoA-Oxydase-Mangel Deficiência de acil-CoA oxidase Pseudo-NALD Pseudo-NALD Pseudo-NALD Pseudo-NALD Pseudo-neonatal adrenoleukodystrophy Pseudoadrenoleucodistrofia Pseudoadrenoleucodistrofia Pseudoadrenoleucodistrofia neonatal Pseudoadrenoleucodistrofia neonatale Pseudoadrenoleukodystrophie Pseudoadrenoleukodystrophie, neonatale Pseudoadrenoleukodystrophy Acyl-CoA-Oxidase-Mangel, peroxisomaler Deficit perossisomiale di acil-CoA ossidasi Déficit de acil CoA oxidasa peroxisomal Déficit en acyl-CoA oxydase Peroxisomal acyl-CoA oxidase deficiency Pseudo-adrenoleucodistrofia hrdo:pat_id_568 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter C535818 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Pseudo+Zellwege*%5Btw%5D Q87.8 2981 238067002 C1533628 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficit di tiolasi Deficiência de tiolase Déficit en thiolase Thiolase deficiency Thiolase-Mangel Tiolase, deficiência de Pseudo-Zellweger syndrome Pseudo-Zellweger-Syndrom Sindrome pseudo-Zellweger Syndrome pseudo-Zellweger Síndrome de Pseudo-Zellweger Síndrome de pseudo-Zellweger hrdo:pat_id_569 D058489 Q56.2 2982 C2936403 group of phenomes 46,XX DSD ADS 46,XX DSD 46,XX Female pseudohermaphrodism Pseudoermafroditismo femminile Pseudohermafroditismo femenino Pseudohermaphrodisme féminin Pseudohermaphroditismus, weiblicher Störung der Geschlechtsentwicklung (DSD) bei 46,XX Karyotyp 46,XX disorder of sex development Anomalie du développement sexuel 46,XX Disturbi dello sviluppo sessuale 46,XX Intersexualität bei 46,XX Karyotyp Pseudo-hermafroditismo feminino Trastornos del desarrollo sexual con cariotipo 46, XX hrdo:pat_id_570 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 600122 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=pseudohermaphroditism+mental+retardation+verloes Q56.3 2983 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Pseudoermafroditismo - ritardo mentale Pseudohermafroditismo - déficit intelectual Pseudohermaphrodisme - déficit intellectuel Pseudohermaphroditism - intellectual deficit Sindrome di Verloes-Gillerot-Fryns Störung der Geschlechtsentwicklung (DSD) - geistige Retardierung Syndrome de Verloes-Gillerot-Fryns Síndrome de Verloes-Gillerot-Fryns Verloes-Gillerot-Fryns syndrome Verloes-Gillerot-Fryns, síndrome de Verloes-Gillerot-Fryns-Syndrom Anomalie du développement sexuel - déficit intellectuel Disorder of sex development - intellectual deficit Disturbo dello sviluppo sessuale - ritardo mentale Intersexualität - geistige Retardierung Pseudo-hermafroditismo atraso mental Trastorno del desarrollo sexual - déficit intelectual hrdo:pat_id_571 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 265800 D058631 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Pycnodysostosis%5Btw%5D Q78.8 763 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Pyknodysostosis Picnodisostose Picnodisostosi Picnodisostosis Pycnodysostose Pycnodysostosis Pyknodysostose hrdo:pat_id_574 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 218040 D056685 10067380 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Costello+syndrome%5Btw%5D+OR+%28Mental+retardation+AND+papillomat*%5Btw%5D%29 Q87.8 3071 309776008 C0587248 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Atraso mental - papilomas nasais Déficit intellectuel - papillomatose nasale FCS syndrome FCS, síndrome FCS-Syndrom Facio-cutâneo-esquelético, síndrome Faciocutaneoskeletal syndrome Fazio-kutano-skelettales Syndrom Geistige Retardierung - Nasenpapillome Intellectual deficit - nasal papillomata Ritardo mentale - papillomi nasali Sindrome FCS Sindrome facio-cutaneo-scheletrica Syndrome FCS Syndrome facio-cutanéo-squelettique Síndrome FCS Síndrome facio-cutâneo-esquelético Costello syndrome Costello-Syndrom Sindrome di Costello Syndrome de Costello Síndrome de Costello Síndrome de Costello hrdo:pat_id_575 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance D012410 10010618 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22rubella+syndrome%2C+congenital%22%5BMeSH+Terms%5D+OR+Congenital+rubella+syndrome%5BTi%5D P35.0 290 1857005 C0035921 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Embryofoetopathie rubéolique Embryopathia rubeolaris Rubéole congénitale malformative Röteln, kongenitale Congenital Rubella syndrome Rötelnembryopathie Sindrome da rosolia congenita Syndrome de rubéole congénitale Síndrome de rubéola congénita Síndrome de rubéola congénita hrdo:pat_id_578 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 269920 604369 C538523 10067529 10067531 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=sialic+acid+storage+disease%5Bmh%5D+OR+sialic+acid+storage+disease*%5Bti%5D+OR+salla+disease*%5Bti%5D+OR+%28sialuria%5Bti%5D+NOT+french+type%5Btw%5D%29 E77.8 834 238051008 87074006 C2931872 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Doença de Salla Salla, doença de Salla-Krankheit Doença no armazenamento de ácido siálico livre Enfermedad de depósito de ácido siálico libre Free sialic acid storage disease Maladie de surcharge en acide sialique libre Malattia da deposito di acido sialico libero Sialinsäure-Speicherkrankheit hrdo:pat_id_579 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 181440 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=scheuermann's+disease+OR+(Scheuermann*%5Btw%5D+%22juvenile+kyphosis%22) M42.0 3135 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Cifosi giovanile familiare di Scheuermann Cifosis juvenil de Scheuermann, familiar Cyphose juvénile de Scheuermann familiale Familial Scheuermann juvenile kyphosis Familial spinal osteochondrosis Kyphose, familiäre juvenile, Typ Scheuermann Osteocondrosi spinale, forma familiare Osteocondrosis espinal, forma familiar Ostéochondrose spinale familiale Spinale Osteochondrose, familiäre Cifose juvenil de Scheuermann, forma dominante Cifosis juvenil, tipo Scheuermann Familial Scheuermann disease Maladie de Scheuermann familiale Malattia familiare di Scheuermann Scheuermann-Krankheit, familiäre hrdo:pat_id_580 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 269160 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Schizencephal*%5Bti%5D Q04.6 799 253159001 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Esquisencefalia Esquizencefalia Schizencefalia Schizencephaly Schizencéphalie Schizenzephalie hrdo:pat_id_581 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=mental+retardation+schizophrenia+progressive+hearing+loss+retinitis+pigmentosa 3141 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Esquizofrenia - atraso mental - surdez - retinite Esquizofrenia - déficit intelectual - sordera - retinitis Schizofrenia - ritardo mentale - sordità - retinite Schizophrenia - intellectual deficit - deafness - retinitis Schizophrenie - geistige Retardierung - Schwerhörigkeit - Retinitis pigmentosa Schizophrénie - déficit intellectuel - surdité - rétinite hrdo:pat_id_582 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=multiple+sclerosis+ichthyosis+hemophilia 3151 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Esclerose múltipla - ictiose - deficiência de fator 8 Esclerosis múltiple - ictiosis - deficiencia del factor VIII Multiple Sklerose - Ichthyose - Faktor VIII-Mangel Multiple sclerosis - ichthyosis - factor VIII deficiency Sclerosi multipla - ittiosi - deficit del fattore VIII Sclérose en plaques - ichtyose - déficit en facteur VIII hrdo:pat_id_584 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 180860 312780 D056730 10062282 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Silver-Russell%5Btw%5D+OR+silver+russel%5Btw%5D+OR+russel*silver%5Btw%5D%29+%28dwarfism+OR+short+stature%5Btw%5D%29 Q87.1 813 15069006 C0175693 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Enanismo de Silver-Russell Nanismo di Silver-Russell Silver-Russell dwarfism Nanismo de Silver-Russell Silver-Russell syndrome Silver-Russell-Syndrom Sindrome di Silver-Russell Syndrome de Silver-Russell Síndrome de Silver-Russell hrdo:pat_id_585 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 600145 C538595 10049216 neant Q87.2 3169 253191000 67254002 91089008 C0037205 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Sirenomelia Sirenomelia Sirenomelia Sirenomelia Sirenomelie Sirénomélie hrdo:pat_id_586 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 270200 D016111 10048676 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=sjogren+larsson+syndrome%5BTI%5D+OR+sjogren+larsson+syndrome%5Bmh%5D E71.3 816 111303009 C0037231 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Deficit di aldeide deidrogenasi Deficiência de oxidoredutase dos álcoois de ácidos gordos Déficit d'oxydo-réduction des alcools d'acides gras Fatty acid alcohol oxidoreductase deficiency Fettaldehyd-Oxidoreduktase-Mangel Fettalkohol: NAD+-Oxidoreduktase-Mangel Oxidoredutase dos alcóois de àcidos gordos, deficiência de Sindrome di Sjögren-Larsson Sjögren-Larsson syndrome Sjögren-Larsson-Syndrom Syndrome de Sjögren-Larsson Síndrome de Sjögren-Larsson Síndrome de Sjögren-Larsson hrdo:pat_id_588 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 117550 614753 D058495 10064387 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Sotos%5Btw%5D+AND+%28%22syndrome%22%5BMeSH+Terms%5D+OR+syndrome%5BText+Word%5D%29 Q87.3 821 75968004 C0175695 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Cerebral gigantism Gigantisme cérébral Gigantismo cerebral Gigantismo cerebrale Gigantismus, zerebraler Sindrome di Sotos Sotos syndrome Sotos-Syndrom Syndrome de Sotos Síndrome de Sotos Síndrome de Sotos hrdo:pat_id_589 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%22spasms%2C+infantile%22%5BMeSH+Terms%5D+OR+Infantile+spasms%5BText+Word%5D%29+AND+broad+thumb 3173 disease Sindrome di Tsao-Ellington Syndrome de Tsao-Ellingson Síndrome de Tsao-Ellingson Síndrome de Tsao-Ellington Tsao-Ellingson syndrome Tsao-Ellingson, síndrome de Tsao-Ellington-Syndrom Espasmos infantiles - pulgares largos Espasmos infantis - polegares largos Infantile spasms - broad thumbs Krampfanfälle, infantile - breite Daumen Spasmes infantiles - pouces larges Spasmi infantili - pollici larghi hrdo:pat_id_59 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 181350 300696 310300 612998 612999 614302 D020389 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=emery+dreifuss%5Bti%5D+OR+muscular+dystrophy%2C+emery-dreifuss G71.0 261 111508004 C0410189 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 DMED EDMD EDMD EDMD EDMD Emerinopathie Emerinopathie Emerinopathy Emerinopatia Emerinopatia Distrofia muscolare di Emery-Dreifuss Distrofia muscular de Emery-Dreifuss Distrofia muscular de Emery-Dreifuss Dystrophie musculaire d'Emery-Dreifuss Emery-Dreifuss Muskeldystrophie Emery-Dreifuss muscular dystrophy hrdo:pat_id_590 185070 neant D69.8 3204 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Thrombocytopathie - asplénie - myosis Thrombocytopathy - asplenia - miosis Thrombozytopathie - Asplenie - Miosis Trombocitopatia - asplenia - miose Trombocitopatia - asplenia - miosi Sindrome di Stormorken-Sjaastad-Langslet Stormorken-Sjaastad-Langslet syndrome Stormorken-Sjaastad-Langslet-Syndrom Syndrome de Stormorken-Sjaastad-Langslet Síndrome de Stormorken-Sjaastad-Langslet Síndrome de Stormorken-Sjaastad-Langslet hrdo:pat_id_591 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 185300 D013341 10042265 10057653 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Sturge+Weber%5Bti%5D+OR+Sturge-Weber+syndrome%5Bmajr%5D Q85.8 3205 19886006 C0038505 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Sindrome di Sturge-Weber Sturge-Weber syndrome Sturge-Weber-Syndrom Syndrome de Sturge-Weber Síndrome de Sturge-Weber Síndrome de Sturge-Weber hrdo:pat_id_595 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 274000 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=TAR+syndrome%5Btw%5D+OR+%28thrombocytopenia+AND+absent+radius%5Btw%5D%29 Q87.2 3320 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Sindrome TAR Síndrome de trombocitopenia - agenesia radial TAR syndrome TAR syndrome Thrombozytopenie - Radiusaplasie Trombocitopenia - agenesia radial, síndrome de Síndrome TAR Síndrome TAR TAR-Syndrom Thrombocytopenia - absent radius Thrombocytopénie - aplasie radiale Trombocitopenia - aplasia radiale hrdo:pat_id_596 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Variabel Variabile Variable Variable Variable Variable Variável D014125 10010652 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22congenital+toxoplasmosis%22%5BTi%5D+OR+%22toxoplasmosis%2C+congenital%22%5BMH%5D+OR+Toxoplasmosis+congenital%5BTi%5D P37.1 858 73893000 C0040560 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Embriofetopatia da toxoplasma Embriofetopatía por toxoplasma Embriopatia da toxoplasma Embriopatia por Toxoplasma Embriopatía por toxoplasma Embryo-foetopathie par infection au toxoplasme Embryopathie par infection au toxoplasme Fetopathia toxoplasmotica Toxoplasma embryofetopathy Toxoplasma embryopathy Toxoplasmose-Embryopathie Congenital toxoplasmosis Síndrome toxoplasmose fetal Toxoplasmose congénitale Toxoplasmose, kongenitale Toxoplasmosi congenita Toxoplasmosis congénita hrdo:pat_id_597 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance C536975 Q32.1 3346 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Agenesia della trachea Agenesia traqueal Agenesia traqueal Agénésie de la trachée Tracheal agenesis Trachealagenesie hrdo:pat_id_598 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 234050 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=BIDS+syndrome%5Btw%5D+OR+%28Amish+AND+brittle+hair%5Btw%5D%29+OR+%28Trichothiodystroph*%5Btw%5D+AND+nonphotosensit*%29 L67.8 1245 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown 'Amish Brittle Hair'-Syndrom Amish brittle hair syndrome Cabelo quebradiço Amish, síndrome Sindrome dei capelli fragili, tipo Amish Syndrome d'amish-cheveux épars Síndrome Cabelo quebradiço Amish Trichothiodystrophie Typ D Trichothiodystrophie type D Trichothiodystrophy type D Tricotiodistrofia tipo D Tricotiodistrofia, tipo D BIDS syndrome BIDS-Syndrom Sindrome BIDS Syndrome BIDS Síndrome BIDS Síndrome BIDS hrdo:pat_id_6 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 272200 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=multiple+sulfatase+deficiency%5Bti%5D+OR+SUMF1%5Bti%5D+OR+mucosulfatidosis%5Bti%5D+OR+sphingolipidoses%5Bti%5D+OR+sphingolipidoses%5Bmh%3Anoexp%5D E75.2 585 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Austin type juvenile sulfatidosis DMS Deficiencia múltiple de sulfatasas Deficiência múltipla de sulfatases MSD MSD MSD Mucosolfatidosi Mucosulfatidose Mucosulfatidosis Mucosulfatidosis Mukosulfatidose Solfatidosi giovanile, tipo Austin Sulfatases, deficiência múltipla de Sulfatidose juvenil, tipo Austin Sulfatidose juvénile type Austin Sulfatidose, juvenile, Typ Austin Sulfatidosis juvenil tipo Austin Deficit multiplo di solfatasi Déficit multiple en sulfatases Déficit múltiple de sulfatasas Mucosulfatidose Multiple sulfatase deficiency Sulfatase-Mangel, multipler hrdo:pat_id_600 560000 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Proximal+tubulopathy+diabetes+mellitus+cerebellar+ataxia Q87.8 3390 Herencia mitocondrial Hérédité mitochondriale Mitochondrial inheritance Mitochondrial inheritance Mitochondriale Vererbung Modo de hereditariedade mitocondrial Trasmissione mitocondriale disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Proximal tubulopathy - diabetes mellitus - cerebellar ataxia Tubulopathie proximale - diabète sucré - ataxie cérébelleuse Tubulopathie, proximale - Diabetes mellitus - zerebelläre Ataxie Tubulopatia prossimale - diabete mellito - atassia cerebellare Tubulopatia proximal - diabetes mellitus - ataxia cerebelosa Tubulopatía proximal - diabetes mellitus - ataxia cerebelosa hrdo:pat_id_6018 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter C538293 D015783 10002532 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%22aniridia%22%5BMeSH+Terms%5D+OR+%28Aniridia%5BTIAB%5D+NOT+medline%5BSB%5D%29%29+AND+sporadic%5BTIAB%5D Q13.1 77 69278003 C0003076 C2931795 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Deletion 11p Deletion 11p Delezione 11p Deleção 11p Délétion 11p Aniridia Aniridia Aniridia Aniridia Aniridie Aniridie hrdo:pat_id_602 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=chickenpox%5Bmajr%5D+AND+pregnancy+complications,+infectious%5Bmajr%5D+AND+%22congenital+varicella+syndrome%22%5Btw%5D P35.8 291 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Infecção pré-natal pelo vírus da varicela Infeção pré-natal pelo vírus da varicela Varicela congénita Varicella congenita Varicella virus antenatal infection Varicelle congénitale Embriopatia da virus della varicella Embriopatía por virus de la varicela Embryopathie au virus de la varicelle Fetal varicella syndrome Síndrome varicela fetal Varizellen-Embryo-Fetopathie hrdo:pat_id_6020 210720 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=primordial+dwarfism+(%22type+ii%22+OR+%22type+2%22)+OR+%22MOPD+II+%22 Q87.1 2637 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome MOPD Typ II MOPD tipo II MOPD type II MOPD type II MOPD, tipo II Bassa statura osteodisplastica microcefalica primitiva, tipo 2 Enanismo microcefálico osteodisplástico primordial tipo 2 Kleinwuchs, mikrozephaler osteodysplastischer primordialer, Typ 2 Microcephalic osteodysplastic primordial dwarfism type 2 Nanisme microcéphalique ostéodysplasique primordial type 2 Nanismo primordial osteodisplásico microcefálico tipo 2 hrdo:pat_id_6021 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta C537829 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Macrophagic%5BAll+Fields%5D+AND+myofasciitis%5BAll+Fields%5D M60.8 592 C2931639 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown MFM MMF MMF MMF MMF Macrophagic myofasciitis Makrophagen bedingte Myofasziitis Miofasceíte macrofágica Miofascite macrofagica Miofascitis macrofágica Myofasciite à macrophages hrdo:pat_id_6023 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 215400 D002817 10008747 178 50007008 C0008487 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Chordom Chordoma Chordome Cordoma Cordoma Cordoma hrdo:pat_id_603 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 192350 C536495 C536534 10053665 10066022 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=abnormalities,+multiple%5Bmajr%5D+AND+%28%22VATER+association%22%5Btw%5D+OR+%22VATERL+association%22%5Btw%5D%29 Q87.2 887 27742002 C0220708 C1735591 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Asociación VACTERL Asociación VATER Association VACTERL Association VATER Associazione VACTERL Associazione VATER Associação VACTERL VACTERL association VACTERL, associação VACTERL-Assoziaton VATER association VATER-Assoziation Asociación VACTERL/VATER Association VACTERL/VATER Associazione VACTERL/VATER Associação VATER VACTERL/VATER association VACTERL/VATER-Assoziaton hrdo:pat_id_604 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 277590 614421 C536687 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Weaver+syndrome%5Btw%5D Q87.3 3447 63119004 C0265210 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Camptodactilia - crecimiento acelerado - dismorfia Camptodactilia - macrossomia - face peculiar Camptodactylie - avance staturo-pondérale - dysmorphie Camptodactyly - overgrowth - unusual facies Camptodattilia - iperaccrescimento - dismorfismi Sindrome di Weaver Syndrome de Weaver Síndrome de Weaver Síndrome de Weaver Weaver syndrome Weaver-Syndrom hrdo:pat_id_605 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 213700 D019294 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Cerebrotendinous+Xanthomatosis+OR+Van+Bogaert+Scherer+Epstein%5Btw%5D E75.5 909 63246000 C0238052 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 CTX CTX Deficit di sterolo 27-idrossilasi Deficiência de esterol 27-hidroxilase Déficit de esterol 27-hidroxilasa Déficit en stérol 27-hydroxylase Esterol 27-hidroxilase, deficiência de Sterol 27-hydroxylase deficiency Sterol-27-Hydroxylase-Mangel Cerebrotendinous xanthomatosis Xanthomatose cérébrotendineuse Xanthomatose, zerebrotendinöse Xantomatose cerebrotendinosa Xantomatosi cerebrotendinea Xantomatosis cerebrotendinosa hrdo:pat_id_606 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 600092 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Chondrodysplas*+OR+Osteochondrodysplasias%29+AND+pseudohermaphroditism Q87.1 1422 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Chondrodysplasia - pseudohermaphrodism Chondrodysplasie - Störung der Geschlechtsentwicklung (DSD) Chondrodysplasie - pseudohermaphrodisme Chondrodysplasie-Pseudohermaphrodismus-Syndrom Condrodisplasia - pseudoermafroditismo Condrodisplasia - pseudohermafroditismo Nivelon-Nivelon-Mabille Syndrom Nivelon-Nivelon-Mabille syndrome Nivelon-Nivelon-Mabille, síndrome de Síndrome de Nivelon-Nivelon-Mabille Síndrome de Nivelon-Nivelon-Mabille Chondrodysplasia - disorder of sex development Chondrodysplasie - Intersexualität Chondrodysplasie - désordre du développement sexuel Condrodisplasia - disturbo dello sviluppo sessuale Condrodisplasia - pseudo-hermafroditismo Condrodisplasia - trastorno del desarrollo sexual hrdo:pat_id_61 Adulte jeune Adultos jóvenes Giovani adulti Jovem adulto Junge Erwachsene Young adult Young adult Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 530000 D007625 10048804 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=kearns+sayer+syndrome+OR+Kearns+Sayre+syndrome%5Btw%5D H49.8 480 25792000 51464001 77835008 C0022541 Herencia mitocondrial Hérédité mitochondriale Mitochondrial inheritance Mitochondrial inheritance Mitochondriale Vererbung Modo de hereditariedade mitocondrial Trasmissione mitocondriale disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Kearns-Sayre syndrome Kearns-Sayre-Syndrom Sindrome di Kearns-Sayre Syndrome de Kearns-Sayre Síndrome de Kearns-Sayre Síndrome de Kearns-Sayre hrdo:pat_id_610 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 608390 C538353 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=potassium+aggravated%5Btw%5D+AND+%28%22myotonia%22%5BMeSH+Terms%5D+OR+myotonia%5BText+Word%5D%29 G71.1 612 C2931826 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown K+-aggravated myotonia K-aggravated myotonia MAP Miotonia aggravata dal K+ Miotonia aggravata dal K- Miotonía agravada por K Miotonía agravada por K+ PAM PAM PAM Miotonia aggravata dal potassio Miotonia agravada pelo potássio Miotonía agravada por potasio Myotonie aggravée par le potassium Myotonie, Kalium-sensitive Potassium-aggravated myotonia hrdo:pat_id_611 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 261600 D010661 10034872 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=phenylketonuria%5Bmajr%5D E70.0 E70.1 716 C0031485 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Deficiencia de PAH Deficiencia de fenilalanina hidroxilasa Deficit della fenilalanina idrossilasi Deficit di PAH Déficit de PAH Déficit de fenilalanina hidroxilasa Déficit en PAH Déficit en phénylalanine hydroxylase PAH deficiency PAH-Mangel PCU PKU PKU PKU PKU PKU Phenylalanin-Mangel Phenylalanine hydroxylase deficiency Fenilcetonuria Fenilcetonúria Fenilchetonuria Phenylketonuria Phenylketonurie Phénylcétonurie hrdo:pat_id_612 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 130000 130010 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28ehlers+danlos+syndrome%5Bmh%5D+OR+Ehlers+Danlos+syndrome%5Btw%5D%29+AND+%28classic+OR+type+I%5BTW%5D+OR+type+II%5BTW%5D%29 Q79.6 287 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 EDS classique EDS, classic type EDS, klassischer Typ EDS, tipo classico EDS, tipo clásico SED classique Ehlers-Danlos syndrome, classic type Ehlers-Danlos-Syndrom, klassischer Typ Sindrome di Ehlers-Danlos, tipo classico Syndrome d'Ehlers-Danlos classique Síndrome de Ehlers-Danlos clássico Síndrome de Ehlers-Danlos tipo clásico hrdo:pat_id_62 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 158900 158901 600416 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22muscular+dystrophy%2C+facioscapulohumeral%22%5BMeSH+Terms%5D+OR+Facioscapulohumeral+muscular+dystrophy%5BText+Word%5D G71.0 269 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Distrofia FSH Distrofia FSH Distrofia muscolare facio-scapolo-omerale Distrofia muscular facioescapulohumeral Dystrophie FSH Dystrophie musculaire facio-scapulo-humérale FSH dystrophy FSHD FSHD FSHD FSHD Facioscapulohumeral muscular dystrophy Facioscapulohumeral myopathy Landouzy-Dejerine myopathy Miopatia di Landouzy-Dejerine Miopatia facio-scapolo-omerale Miopatía de Landouzy-Déjerine Miopatía facioescapulohumeral Myopathie de Landouzy-Dejerine Myopathie facioscapulohumérale Distrofia facio-scapolo-omerale Distrofia facioescapulohumeral Distrofia muscular facioscapulohumeral Dystrophie facio-scapulo-humérale Facioscapulohumeral dystrophy Muskeldystrophie, fazio-skapulo-humerale hrdo:pat_id_629 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 300500 C537863 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%28%22ocular+albinism%22%5BTW%5D+OR+Albinism+ocular%5BTW%5D%29+NOT+medline%5Bsb%5D%29+OR+%22albinism%2C+ocular%22%5BMeSH+Terms%5D E70.3 54 78642008 C0342684 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 AO-1 AO1 Albinisme oculaire type 1 Albinisme oculaire type Nettleship-Falls Albinismo ocular tipo 1 Albinismo ocular tipo Nettleship-Falls Albinismo oculare, tipo 1 Albinismo oculare, tipo Nettleship-Falls Albinismus, okulärer, Nettleship-Falls-Typ Albinismus, okulärer, Typ 1 OA-1 OA-1 OA-1 OA1 Ocular albinism type 1 Ocular albinism, Nettleship-Falls type XLOA Albinisme oculaire récessif lié à l'X Albinismo ocular ligado al X recesivo Albinismo ocular ligado ao X recessivo Albinismo oculare recessivo legato all'X Albinismus, okulärer rezessiver X-chromosomaler X-linked recessive ocular albinism hrdo:pat_id_63 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 540000 D017241 10053872 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22melas+syndrome%22%5BMeSH+Terms%5D+OR+%28MELAS%5BText+Word%5D+NOT+medline%5Bsb%5D%29 G71.3 550 39925003 C0162671 Esporádica Esporádico Herencia mitocondrial Hérédité mitochondriale Mitochondrial inheritance Mitochondrial inheritance Mitochondriale Vererbung Modo de hereditariedade mitocondrial Sporadic Sporadic Sporadica Sporadique Sporadisch Trasmissione mitocondriale disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Encefalomiopatia mitocondriale, acidosi lattica ed episodi ictus-simili Encefalopatía mitocondrial, acidosis láctica y episodios de tipo ictus Encéphalomyopathie mitochondriale, acidose lactique, pseudo-épisodes vasculaires cérébraux Miopatia mitocondrial-encefalopatia-acidose láctica Miopatia mitocondriale, encefalopatia, acidosi lattica ed episodi ictus-simili Miopatía mitocondrial, encefalopatía, acidosis láctica y episodios de tipo ictus Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes Mitochondriale Enzephalomyopathie - Laktatazidose - schlaganfallähnlichen Episoden Mitochondriale Myopathie - Enzephalopathie - Laktatazidose - schlaganfallähnlichen Episoden Myopathie mitochondriale, encéphalopathie, acidose lactique, pseudo-épisodes vasculaires cérébraux MELAS syndrome MELAS-Syndrom Sindrome MELAS Syndrome MELAS Síndrome MELAS Síndrome MELAS hrdo:pat_id_630 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 104200 203780 301050 D009394 10001843 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Alport+syndrome%5Btiab%5D+OR+(Nephritis,+Hereditary+(Hearing+Loss)) Q87.8 63 399340005 C1567741 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Alport deafness-nephropathy Nephropathie-Taubheits-Syndrom Sordità - nefropatia di Alport Surdité - néphropathie Alport syndrome Alport-Syndrom Sindrome di Alport Syndrome d'Alport Síndrome de Alport Síndrome de Alport hrdo:pat_id_631 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 104300 104310 300756 602096 605055 605526 606187 606889 607116 607822 608907 609636 609790 611073 611152 611154 611155 neant G30.0 1020 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Alzheimer-Krankheit, familiäre EOFAD EOFAD EOFAD EOFAD Early-onset familial autosomal dominant Alzheimer disease Enfermedad de Alzheimer familiar Enfermedad de Alzheimer familiar autosómica dominante de aparición temprana Familial Alzheimer disease Maladie d'Alzheimer familiale autosomique dominante Malattia di Alzheimer familiare, autosomica dominante, a esordio precoce Malattia familiare di Alzheimer Alzheimer-Krankheit mit frühem Beginn, autosomal-dominante Doença de Alzheimer familiar Early-onset autosomal dominant Alzheimer disease Enfermedad de Alzheimer autosómica dominante de aparición temprana Maladie d'Alzheimer précoce autosomique dominante Malattia di Alzheimer, autosomica dominante, a esordio precoce hrdo:pat_id_632 Variabel Variabile Variable Variable Variable Variable Variável D000686 10002022 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Amyloidosis%5BTI%5D+OR+%22Amyloidosis%22%5BMH%5D E85 69 17602002 C0002726 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Amyloïdose Amiloidose Amiloidosi Amiloidosis Amyloidose Amyloidosis Amylose hrdo:pat_id_633 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=spinal+muscular+atrophies+of+childhood%5Bmh%5D+OR+(proximal%5Btw%5D+muscular+atrophy,+spinal) G12.0 G12.1 70 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 AME Doença de Kugelberg-Welander Doença de Werdnig-Hoffman Kugelberg-Welander, doença de SMA SMA SMA SMA Werdnig-Hoffman, doença de Amyotrophie spinale proximale Atrofia muscolare spinale prossimale Atrofia muscular espinal proximal Atrofia muscular espinhal proximal (termo genérico) Proximal spinal muscular atrophy Spinale Muskelatrophie, proximale hrdo:pat_id_634 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 227645 227646 227650 300514 600901 603467 609053 609054 610832 613390 613951 614082 614083 614087 D005199 10055206 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28fanconi+anemia%5BText+Word%5D+AND+fanconi+anemia%5BTiab%5D%29+OR+%22fanconi+anemia%22%5BMeSH+Terms%5D D61.0 84 30575002 C0015625 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Fanconi pancytopenia Fanconi-Panzytopenie Pancitopenia de Fanconi Pancitopenia de Fanconi Pancitopenia di Fanconi Pancytopénie de Fanconi Anemia de Fanconi Anemia de Fanconi Anemia di Fanconi Anémie de Fanconi Fanconi anemia Fanconi-Anämie hrdo:pat_id_635 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 302045 600884 601154 601493 601494 604145 604288 604765 605582 606685 607482 607487 608569 609909 609915 611407 611615 611878 611879 611880 612158 612877 613122 613172 613252 613286 613424 613426 613642 613694 613697 613740 613881 614672 615184 615235 615248 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=cardiomyopathy,congestive%5Bmajr%5D+AND+familial I42.0 154 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Herencia mitocondrial Hérédité mitochondriale Ligado ao X recessivo Mitochondrial inheritance Mitochondrial inheritance Mitochondriale Vererbung Modo de hereditariedade mitocondrial Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X Trasmissione mitocondriale X-chromosomal-rezessiv X-linked recessive X-linked recessive disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Cardiomyopathie dilatée idiopathique ou familiale Familial or idiopathic dilated cardiomyopathy Cardiomiopatia dilatativa familiare Cardiomyopathie dilatée familiale isolée Familial isolated dilated cardiomyopathy Kardiomyopathie, dilatative familiäre Miocardiopatia dilatada familiar Miocardiopatía dilatada familiar aislada hrdo:pat_id_636 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 115195 115196 115197 192600 600858 608751 608758 612098 612124 613243 613251 613255 613690 613765 613838 613873 613874 613875 613876 614676 615248 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=cardiomyopathy%2C+hypertrophic/ge%5BMAJR%3Anoexp%5D+OR+cardiomyopathy%2C+hypertrophic/cn%5Bmajr%3Anoexp%5D I42.2 155 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Cardiomiopatia ipertrofico-ostruttiva familiare isolata Cardiomiopatia ipertrofico-ostruttiva idiopatica o familiare Cardiomiopatia ipertrofico-ostruttiva primitiva Cardiomyopathie hypertrophique obstructive familiale isolée Cardiomyopathie hypertrophique obstructive idiopathique ou familiale Cardiomyopathie hypertrophique obstructive primitive Estenosis subaórtica hipertrófica familiar aislada Estenosis subaórtica hipertrófica idiopática o familiar Estenosis subaórtica hipertrófica primitiva Familial isolated hypertrophic obstructive cardiomyopathy Familial isolated hypertrophic subaortic stenosis Familial or idiopathic hypertrophic subaortic stenosis Familila or idiopathic hypertrophic obstructive cardiomyopathy Hypertrophic obstructive cardiomyopathy Kardiomyopathie, hypertrophe isolierte obstruktive, familiäre Form Kardiomyopathie, hypertrophe obstruktive, familiär oder idiopathisch Miocardiopatía obstructiva hipertrófica familiar aislada Miocardiopatía obstructiva hipertrófica idiopática o familiar Miocardiopatía obstructiva hipertrófica primitiva Myocardiopathie obstructive hypertrophique familiale isolée Myocardiopathie obstructive hypertrophique idiopathique ou familiale Myocardiopathie obstructive hypertrophique primitive Primitive hypertrophic obstructive cardiomyopathy Primitive hypertrophic subaortic stenosis Retrécissement sous-aortique hypertrophique familiale isolée Retrécissement sous-aortique hypertrophique idiopathique ou familial Retrécissement sous-aortique hypertrophique primitif Stenosi subaortica ipertrofica familiare isolata Stenosi subaortica ipertrofica idiopatica o familiare Stenosi subaortica ipetrofica primitiva Sténose sous-aortique hypertrophique familiale isolée Sténose sous-aortique hypertrophique idiopathique ou familiale Sténose sous-aortique hypertrophique primitive Subaortenstenose, hypertrophe isolierte, familiäre Subaortenstenose, hypertrophe, familiär oder idiopathisch Cardiomiopatia ipertrofica familiare isolata Cardiomyopathie hypertrophique familiale isolée Familial isolated hypertrophic cardiomyopathy Kardiomyopathie, hypertrophe isolierte, familiäre Form Miocardiopatia hipertrófica familiar Miocardiopatía hipertrófica familiar aislada hrdo:pat_id_637 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável D002607 10034699 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=charcot+marie+tooth+disease%5Bmh%5D+OR+Charcot+Marie+Tooth+disease%5Bti%5D G60.0 166 50548001 C0007959 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-dominant X-chromosomal-rezessiv X-linked dominant X-linked dominant X-linked recessive X-linked recessive group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 CMT CMT CMT CMT Charcot-Marie-Tooth hereditary neuropathy Hereditäre Neuropathie Charcot-Marie-Tooth Neuropathie héréditaire de Charcot-Marie-Tooth Neuropatia ereditaria di Charcot-Marie-Tooth Neuropatía hereditaria de Charcot-Marie-Tooth Charcot-Marie-Tooth disease Charcot-Marie-Tooth-Krankheit Doença de Charcot-Marie-Tooth Enfermedad de Charcot-Marie-Tooth Maladie de Charcot-Marie-Tooth Malattia di Charcot-Marie-Tooth hrdo:pat_id_638 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 133540 214150 216400 216411 278780 610651 610756 610758 D003057 10009835 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22cockayne+syndrome%22%5BMeSH+Terms%5D+OR+%28Cockayne+syndrome%5BText+Word%5D+NOT+medline%5Bsb%5D%29 Q87.1 191 21086008 C0009207 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cockayne syndrome Cockayne-Syndrom Sindrome di Cockayne Syndrome de Cockayne Síndrome de Cockayne Síndrome de Cockayne hrdo:pat_id_64 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 545000 D017243 10069825 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22merrf+syndrome%22%5BMH%5D+OR+%28MERRF+syndrome%5BTW%5D+NOT+medline%5Bsb%5D%29 G40.3 551 230426003 68448003 C0162672 Herencia mitocondrial Hérédité mitochondriale Mitochondrial inheritance Mitochondrial inheritance Mitochondriale Vererbung Modo de hereditariedade mitocondrial Trasmissione mitocondriale disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Epilepsie myoclonique avec 'ragged-red-fibers' Epilepsie myoclonique à fibres rouges en lambeaux Epilessia mioclonica con fibre rosse sfilacciate Epilépsia mioclónica associada a fibras vermelhas Fukuhara syndrome Myoclonus epilepsy associated with ragged-red fibers Myoklonusepilepsie mit 'ragged-red-fibers' Syndrome de Fukuhara MERRF syndrome MERRF-Syndrom Sindrome MERRF Syndrome MERRF Síndrome MERRF Síndrome MERRF hrdo:pat_id_641 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22epidermolysis+bullosa+simplex%22%5BMeSH+Terms%5D+OR+Epidermolysis+Bullosa+Simplex%5BText+Word%5D Q81.0 304 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 EBS EBS EBS EBS EBS EBS EEB EEB EEB EEB Epidermolisis bullosa simple Epidermolysis bullosa simplex Epidermólise bolhosa simples Epidermólise bulhosa simples Epidermolisi bollosa semplice Epidermolisis ampollosa simple Epidermolyse bulleuse simple Epidermolysis bullosa simplex Epidermolysis bullosa, epidermolytische Epidermólise bolhosa epidermolítica hrdo:pat_id_643 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 230500 230600 230650 D016537 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22gangliosidosis+gm1%22%5BMH%5D+OR+GM1+gangliosidosis%5BTi%5D E75.1 354 238025006 32917001 C0085131 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Beta-Galaktosidase 1-Mangel Beta-galactosidase, deficiência de Beta-galactosidase-1 deficiency Deficiencia de GLB1 Deficiencia de beta-galactosidasa-1 Deficit di GLB1 Deficit di beta-galattosidasi-1 Deficiência de beta-galactosidase Doença de Landing Déficit de GLB1 Déficit de beta-galactosidasa-1 Déficit en GLB1 Déficit en bêta-galactosidase-1 Enfermedad de Landing GLB1 deficiency GLB1-Mangel Landing disease Landing, doença de Landing-Krankheit Maladie de Landing Malattia di Landing GM1 gangliosidosis GM1-Gangliosidose Gangliosidose GM1 Gangliosidose à GM1 Gangliosidosi GM1 Gangliosidosis GM1 hrdo:pat_id_644 Variabel Variabile Variable Variable Variable Variable Variável D005776 10018048 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22gaucher+disease%22%5BMeSH+Terms%5D+OR+Gaucher+Disease%5BTiab%5D E75.2 355 190794006 C0017205 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Acid beta-glucosidase deficiency Beta-glucosidase ácida, deficiência de Deficit di acido beta-glucosidasi Deficiência de beta-glucosidase ácida Deficiência de glucocerebrosidase Déficit en bêta-glucosidase acide Déficit en glucocérébrosidase Glucocerebrosidase deficiency Glucocerebrosidase, deficiência de Glukozerebrosidase-Mangel Mangel der sauren beta-Glukosidase Doença de Gaucher (termo genérico) Enfermedad de Gaucher Gaucher disease Gaucher-Krankheit Maladie de Gaucher Malattia di Gaucher hrdo:pat_id_645 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 232200 232220 232240 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=glycogen+storage+disease+type+i%5Bmajr%5D E74.0 364 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficit di G6P Deficiência de glucose-6-fosfatase Deficiência de glucose-6-fosfato translocase Doença de Von Gierke Déficit de G6P Déficit en G6P Enfermedad de Von Gierke Enfermedad de almacenamiento de glucógeno de tipo 1 Enfermedad de almacenamiento de glucógeno por déficit de G6P G6P deficiency GSD da deficit di G6P GSD due to G6P deficiency GSD por déficit de G6P GSD tipo 1 GSD type 1 GSD type 1 GSD, tipo 1 Glicogenose hepatorrenal Glicogenosi epatorenale Glicogenosi, tipo 1 Glucogenosis hepatorrenal Glucogenosis tipo 1 Glucose-6-fosfatase, deficiência de Glucose-6-fosfato translocase, deficiência de Glukose-6-Phosphatase-Mangel Glukose-6-Phosphatase-Translokase-Mangel Glycogen storage disease due to G6P deficiency Glycogen storage disease type 1 Glycogenosis type 1 Glycogénose de type 1 Glycogénose hépato-rénale Glykogenspeicherkrankheit, hepatorenale Hepatorenal glycogenosis Maladie de Von Gierke Malattia da deposito di glicogeno da deficit di G6P Malattia da deposito di glicogeno, tipo 1 Malattia di Von Gierke Von Gierke disease Von Gierke, doença de Von-Gierke-Krankheit Enfermedad de almacenamiento de glucógeno por déficit de glucosa-6-fosfatasa Glicogenose tipo 1 Glycogen storage disease due to glucose-6-phosphatase deficiency Glycogénose par déficit en glucose-6-phosphatase Glykogenose Typ 1 Malattia da deposito di glicogeno da deficit di glucosio-6-fosfatasi hrdo:pat_id_646 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 134510 134520 134540 10061992 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hemophilia+a%5Bmajr%5D+OR+hemophilia+b%5Bmajr%5D D66 D67 448 90935002 C0684275 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Emofilia Hemofilia Hemofilia Hemophilia Hämophilie Hémophilie hrdo:pat_id_647 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 142623 600155 600156 606874 606875 608462 611644 613711 613712 D006627 10010539 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22hirschsprung+disease%22%5BMeSH+Terms%5D+OR+%28Hirschsprung+Disease%5BText+Word%5D+NOT+medline%5Btw%5D%29 Q43.1 388 204739008 360436002 C0019569 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Aganglionic Megacolon Aganglionose intestinale congénitale Aganglionosis intestinal congénita Congenital intestinal aganglionosis HSCR HSCR Megacolon agangliónico Mégacolon aganglionique Doença de Hirschsprung Enfermedad de Hirschsprung Hirschsprung disease Hirschsprung-Krankheit Maladie de Hirschsprung Malattia di Hirschsprung hrdo:pat_id_648 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 201710 201810 201910 202010 202110 613571 D000312 10010323 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=adrenal+hyperplasia,+congenital%5Bmh%5D+OR+congenital+adrenal+hyperplasia%5Bti%5D E25.0 418 237751000 C0001627 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Adrenale Hyperplasie, kongenitale CAH CAH CAH HCS Congenital adrenal hyperplasia Hiperplasia suprarrenal congénita Hiperplasia suprarrenal congénita Hyperplasie congénitale des surrénales Iperplasia congenita dei surreni Nebennierenhyperplasie, kongenitale hrdo:pat_id_649 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 145600 154275 154276 600467 601887 601888 D008305 10020844 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22malignant+hyperthermia%22%5BMH%5D+OR+%28Malignant+hyperthermia%5BTW%5D+NOT+medline%5Bsb%5D%29 T88.3 423 405501007 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hiperpirexia maligna Hipertermia da anestesia Hyperpyrexie maligne Hyperpyrexie, maligne Hyperthermia of anesthesia Hyperthermie bei Allgemeinnarkose Hyperthermie maligne de l'anesthésie Iperpiressia maligna Ipertermia da anestesia Malignant hyperpyrexia Miopatia da farmaci anestetici Miopatia farmacogenetica da anestesia Miopatia farmacogenética da anestesia Myopathie pharmacogénétique de l'anesthésie Pharmacogenetic myopathy of anesthesia Pharmakogenetische Myopathie bei Allgemeinnarkose Hipertermia maligna Hyperthermie maligne Ipertermia maligna Malignant hyperthermia Maligne Hyperthermie Sucetibilidade à hipertermia maligna hrdo:pat_id_65 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 117000 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22central+core+myopathy%22%5Bti%5D+OR+%22myopathy%2C+central+core%22%5BMeSH+Terms%5D+OR+Central+core+disease%5BTi%5D G71.2 597 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Central-Core-Krankheit Zentralfibrillenmyopathie Central core disease Central-Core-Myopathie Doença do Núcleo Central Miopatia congenita ''central core'' Miopatía congénita "central core" Myopathie congénitale à central cores hrdo:pat_id_650 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável D009472 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=neuronal+ceroid-lipofuscinosis%5Bmajr%5D E75.4 216 42012007 C0027877 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CLN Deficiência de palmitoil: proteína tioesterase NCL NCL NCL Palmitoil:proteína tioesterase, deficiência de Ceroid-Lipofuszinose, neuronale Ceroido-lipofuscinose neuronal Ceroidolipofuscinosi neuronale Céroïde-lipofuscinose neuronale Lipofuscinosis neuronal ceroidea Neuronal ceroid lipofuscinosis hrdo:pat_id_6519 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant G61.8 639 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Neuropatia desmielinizante crónica com gamapatia IgM monoclonal Polineuropatia associata a gammopatia monoclonale IgM con anti-MAG Polineuropatía asociada a gammopatía monoclonal de IgM con anti-MAG Polyneuropathie associée à une gammopathie monoclonale IgM ayant une activité anti-MAG Polyneuropathie mit monoklonaler IgM-Gammopathie mit Anti-MAG Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG hrdo:pat_id_6520 Variabel Variabile Variable Variable Variable Variable Variável 153300 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Yellow+nail+syndrome%5Bti%5D+OR+(Yellow+nail+syndrome%5Btw%5D+(nail+diseases+OR+lymphedema)) L60.5 662 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Linfedema con unghie gialle Linfedema con uñas amarillas Lymphedema with yellow nails Lymphoedème avec ongles jaunes Lymphödem - gelbe Nägel Gelbe-Nägel-Syndrom Sindrome delle unghie gialle Syndrome des ongles jaunes Síndrome das unhas amarelas Síndrome de uñas amarillas Yellow nail syndrome hrdo:pat_id_6522 Variabel Variabile Variable Variable Variable Variable Variável neant L51.2 537 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Necrólise epidérmica tóxica Nekrolyse, epidermale toxische Toxische epidermale Nekrolyse (TEN) Lyell syndrome Lyell-Syndrom Sindrome di Lyell Syndrome de Lyell Síndrome de Lyell Síndrome de Lyell hrdo:pat_id_6523 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 10051316 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22acquired+hyperostosis+syndrome%22%5Bmajr%5D+OR+SAPHO+syndrome%5Bti%5D M86.3 793 60684003 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Sinovite - acne - pustolosi - iperostosi - osteite Sinovite - acne - pústulas - hiperostose - osteíte Syndrome de synovite-acné-pustulose-hyperostose-ostéite Synovitis - Akne - Pustulosis - Hyperostose - Osteitis Synovitis-acne-pustulosis-hyperostosis-osteitis syndrome SAPHO syndrome SAPHO-Syndrom Sindrome SAPHO Syndrome SAPHO Síndrome SAPHO Síndrome SAPHO hrdo:pat_id_653 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 252900 252920 252930 252940 D009084 10056890 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=mucopolysaccharidosis+iii%5Btw%5D+OR+sanfilippo+dis*%5Btw%5D+OR+sanfilippo+synd*%5Btw%5D+OR+mucopolysaccharidosis+iii%5Bmh%5D E76.2 581 59990008 88393000 C0026706 C0086648 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Acetil-CoA alfa-glucosaminideo-N-acetil transferase, deficiência de Deficiência de N-acetil-alfa-glucosaminidase sulfamidase Deficiência de N-acetil-glucosamina-6-sulfato sulfatase Deficiência de acetil-CoA alfa-glucosaminideo-N-acetil transferase Deficiência de heparano sulfamidase Doença de Sanfilippo Enfermedad de Sanfilippo Heparano sulfamidase, deficiência de MPS III MPS III MPS III MPS III MPS III Maladie de Sanfilippo Malattia di Sanfilippo Mucopolisacaridosis tipo III Mucopolisaccaridosi, tipo III Mucopolysaccharidose type III Mucopolysaccharidosis type III Mukopolysaccharidose Typ III N-acetil-alfa-glucosaminidase sulfamidase, deficiência de N-acetil-glucosamina-6-sulfato sulfatase, deficiência de Sanfilippo disease Sanfilippo, doença de Sanfilippo-Krankheit Mucopolisacaridosis tipo 3 Mucopolisaccaridosi, tipo 3 Mucopolissacaridose 3 (MPS3) Mucopolysaccharidose type 3 Mucopolysaccharidosis type 3 Mukopolysaccharidose Typ 3 hrdo:pat_id_654 Variabel Variabile Variable Variable Variable Variable Variável 166200 166210 166220 166230 259420 259440 610682 610915 610967 610968 613848 613849 613982 614856 615066 D010013 10031243 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22osteogenesis+imperfecta%22%5BMeSH+Terms%5D+OR+%28Osteogenesis+imperfecta%5BTi%5D+OR+Lobstein+Disease%5Bti%5D+OR+Lobstein%27s+Disease%5Bti%5D%29 Q78.0 666 78314001 C0029434 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Brittle bone disease Doença de Lobstein Doença dos ossos de vidro Doença dos ossos quebradiços Enfermedad de Porak y Durante Glasknochenkrankheit Glass bone disease Lobstein disease Lobstein, doença de Lobstein-Krankheit Maladie de Lobstein Maladie de Porak et Durante Maladie des os de verre Malattia delle ossa di vetro Malattia delle ossa fragili Malattia di Lobstein Malattia di Porak e Durante OI OI OI OI OI Ossos de vidro, doença dos Ossos quebradiços, doença dos Osteopsathyrose Osteopsathyrosis Osteopsatirosi Osteopsatirosis Ostéopsathyrose Porak and Durante disease Porak-Durante-Krankheit Osteogenesi imperfetta Osteogenesis imperfecta Osteogenesis imperfecta Osteogénese imperfeita Osteogénesis imperfecta Ostéogenèse imparfaite hrdo:pat_id_655 Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=spastic+paraplegia,+hereditary+OR+(spastic+paraplegia%5BTW%5D+(family+OR+familial+OR+hereditary+OR+inherited)) G11.4 685 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Doença de Strumpell-Lorrain Enfermedad de Strumpell-Lorrain Familial spastic paraplegia HSP HSP HSP HSP Hereditary spastic paraparesis Hereditäre spastische Paralyse Maladie de Strümpell-Lorrain Malattia di Strumpell-Lorrain PSH Paraparesi spastica Paraparesia espástica Paraparesia espástica hereditaria Paraparésie spasmodique héréditaire Paraplejía espástica familiar Paraplégie spastique familiale SPG SPG SPG SPG SPG Spastische Spinalparalyse, hereditäre Strumpell-Lorrain disease Strumpell-Lorrain, doença de Strümpell-Lorrain-Krankheit Hereditary spastic paraplegia Paraplegia espástica, familiar Paraplegia spastica familiare Paraplejía espástica hereditaria Paraplégie spastique héréditaire Spastische Paraplegie, familiäre hrdo:pat_id_656 Variabel Variabile Variable Variable Variable Variable Variável 213900 312080 608804 612233 612438 D020371 10067610 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Pelizaeus+Merzbacher%5Bti%5D+OR+%22pelizaeus-merzbacher+disease%22%5BMeSH+Terms%5D E75.2 702 64855000 C0205711 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-dominant X-chromosomal-rezessiv X-linked dominant X-linked dominant X-linked recessive X-linked recessive disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Diffuse familial brain sclerosis Hirnsklerose, diffuse familiäre Leucodystrophie sudanophile de Pelizaeus-Merzbacher Leukodystrophie, sudanophile, Typ Pelizeus-Merzbacher PMD Pelizaeus-Merzbacher Hirnsklerose Pelizaeus-Merzbacher brain sclerosis Sclérose cérébrale de Pelizaeus-Merzbacher Sclérose cérébrale diffuse familiale Sudanophilic leukodystrophy, Paelizeus-Merzbacher type Disease Pelizaeus-Merzbacher Enfermedad de Pelizaeus-Merzbacher Maladie de Pelizaeus-Merzbacher Malattia di Pelizaeus-Merzbacher Pelizaeus-Merzbacher disease Pelizaeus-Merzbacher-Krankheit hrdo:pat_id_657 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Variabel Variabile Variable Variable Variable Variable Variável D011164 10036181 10061356 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22porphyrias%22%5BMH%5D+OR+%28Porphyrias%5BTW%5D+NOT+medline%5Bsb%5D%29 E80 738 29094004 371628009 418470004 C0032708 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo group of phenomes Coproporfiria hereditaria Coproporfiria hereditária Protoporfiria eritropoiética Protoporfiria eritropoiética Porfiria Porfiria Porfiria Porphyria Porphyrie Porphyrie hrdo:pat_id_658 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=jervell+lange+nielsen+syndrome+OR+romano+ward+syndrome+OR+((long+qt+syndrome)+genetic+diseases,+inborn) I45.8 768 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Congenital long QT syndrome Jervell-Lange-Nielsen, síndrome de LQTS Romano-Ward, síndrome de Syndrome du QT long congénital Síndrome de Jervell-Lange-Nielsen Síndrome de Romano-Ward Familial long QT syndrome Long-QT-Syndrom, familiäres Sindrome del QT lungo familiare Syndrome du QT long familial Síndrome QT longo, familiar Síndrome de QT largo familiar hrdo:pat_id_659 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 180100 180104 180105 180210 268000 268025 268060 300029 300155 300424 300605 312600 312612 400004 600059 600105 600132 600138 600852 601414 601718 602594 602772 604232 604393 606068 607921 608133 608380 609913 609923 610282 610359 610599 611131 612095 612165 612572 612943 613194 613341 613428 613464 613575 613581 613582 613617 613731 613750 613756 613758 613767 613769 613794 613801 613809 613810 613827 613861 613862 613983 614180 614181 614494 614500 D012174 10038914 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22retinitis+pigmentosa%22%5BMeSH+Terms%5D+OR+%28Retinitis+pigmentosa%5BTi%5D+NOT+medline%5Bsb%5D%29 H35.5 791 28835009 C0035334 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Herencia mitocondrial Hérédité mitochondriale Ligado ao X recessivo Mitochondrial inheritance Mitochondrial inheritance Mitochondriale Vererbung Modo de hereditariedade mitocondrial Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X Trasmissione mitocondriale X-chromosomal-rezessiv X-linked recessive X-linked recessive disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Retinose pigmentar Retinite pigmentosa Retinite pigmentosa Retinitis pigmentosa Retinitis pigmentosa Retinosis pigmentaria Rétinite pigmentaire hrdo:pat_id_66 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 161800 256030 605355 609273 609284 609285 610687 D017696 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22nemaline+myopathies%22%5BTi%5D+OR+Nemaline+myopathy%5BTi%5D+OR+%22myopathies%2C+nemaline%22%5BMH%5D G71.2 607 75072002 C0206157 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 MN Miopatia com bastonetes Miopatia nemalinica dei bastoncelli Miopatía nemalínica de bastoncillos Myopathie congénitale à bâtonnets NEM NEM NEM NEM NEM NM NM NM NM NM Nemalin-Stäbchen-Myopathie Nemaline rod myopathy Miopatia nemalinica Miopatia nemalínica Miopatía nemalínica Myopathie à némaline Nemalin-Myopathie Nemaline myopathy hrdo:pat_id_660 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 191100 613254 D014402 10045138 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22tuberous+sclerosis%22%5BMH%5D+OR+Tuberous+sclerosis%5BTi%5D Q85.1 805 7199000 C0041341 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Bourneville syndrome Bourneville, síndrome de Bourneville-Syndrom Enfermedad de Bourneville STB Sclerosi tuberosa complessa Sindrome di Bourneville Syndrome de Bourneville Síndrome de Bourneville Tuberous sclerosis complex Tuberöse Sklerose Komplex Esclerose tuberosa Esclerosis tuberosa Sclerosi tuberosa Sclérose tubéreuse de Bourneville Tuberous sclerosis Tuberöse Sklerose hrdo:pat_id_662 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 276900 276901 276902 276904 500004 601067 602083 602097 605472 606943 611383 612632 614504 614869 614990 D052245 10063396 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Usher+syndrome*%5Bti%5D+OR+Usher+syndromes%5Bmh%5D H35.5 886 57838006 C0271097 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Retinite pigmentosa - sordità Retinite pigmentosa - surdez Retinitis pigmentosa - Taubheit Retinitis pigmentosa - deafness Retinosis pigmentaria - sordera Rétinite pigmentaire - surdité USH USH USH USH USH Sindrome di Usher Syndrome d'Usher Síndrome de Usher Síndrome de Usher Usher syndrome Usher-Syndrom hrdo:pat_id_663 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance D014849 10069203 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=waardenburg%27s+syndrome%5Bmajr%5D E70.3 3440 47434006 C0043008 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Sindrome di Waardenburg Syndrome de Waardenburg Síndrome de Waardenburg (termo genérico) Síndrome de Waardenburg (término genérico) Waardenburg syndrome Waardenburg-Syndrom hrdo:pat_id_664 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 164300 D039141 10052181 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=muscular+dystrophy%5Bmajr%5D+AND+oculopharyngeal%5Btw%5D G71.0 270 77097004 C0270952 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 DMOF DMOP OPMD OPMD OPMD OPMD Distrofia muscolare oculofaringea Distrofia muscular oculofaríngea Distrofia muscular óculo-faríngea Dystrophie musculaire oculo-pharyngée Muskeldystrophie, okulopharyngeale Oculopharyngeal muscular dystrophy hrdo:pat_id_665 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 215518 215520 242670 242680 244400 606763 608644 608646 608647 610852 611884 612274 612444 612518 612649 612650 613193 613807 613808 614017 614679 614874 614935 615067 10069713 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=ciliary+motility+disorders%5BMH%3Anoexp%5D+OR+Primary+ciliary+dyskinesia%5Btw%5D+OR+kartagener+syndrome J98.0 244 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Immotile cilia syndrome Sindrome dell'immobilità ciliare Syndrom der immotilen Zilien Syndrome d'immotilité ciliaire Discinesia ciliar primária Discinesia ciliare primitiva Disquinesia ciliar primaria Dyskinésie ciliaire primitive Primary ciliary dyskinesia Zilien-Dyskinesie, primäre hrdo:pat_id_667 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 159400 254200 607085 D009157 10028417 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22myasthenia+gravis%22%5BMH%3Anoexp%5D+OR+Myasthenia+gravis%5BTi%5D G70.0 589 91637004 C0026896 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Acquired myasthenia Autoimmune myasthenia gravis Miastenia acquisita Miastenia adquirida Miastenia autoinmune Miastenia grave autoimmune Myasthenia gravis Myasthenia gravis Myasthenia gravis, autoimmune Myasthenie, erworbene Myasthénie acquise Miastenia grave Miastenia grave Miastenia gravis Myasthenia gravis Myasthenia gravis Myasthénie auto-immune hrdo:pat_id_670 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 134700 10018444 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=glucosephosphate+dehydrogenase+deficiency%5Bmajr%5D+AND+review%5Bpt%5D D55.0 362 124134002 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Deficit di G6PD Deficiência de G6PD Déficit en G6PD Favism Favisme Favismo Favismo Favismus G6PD deficiency G6PD, deficiência de G6PD-Mangel Deficit di glucosio-6-fosfato deidrogenasi Deficiência de glucose-6-fosfato desidrogenase Déficit de glucosa-6-fosfato-deshidrogenasa Déficit en glucose-6-phosphate déshydrogénase Glucose-6-phosphate-dehydrogenase deficiency Glukose-6-Phosphat-Dehydrogenase-Mangel hrdo:pat_id_671 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 613179 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=purine+nucleoside+phosphorylase/df+OR+%28Purine+nucleoside+phosphorylase%5Bti%5D+AND+deficien*%5Bti%5D%29 D81.5 760 60743005 C0268125 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficiencia de PNP Deficit di PNP Déficit en PNP PNP deficiency PNP-Mangel Deficiencia de purín nucleósido fosforilasa Deficit di purina nucleoside fosforilasi Deficiência de nucleosídeos purínicos fosforilase Déficit en purine nucléoside phosphorylase Purin-Nukleosid-Phosphorylase-Mangel Purine nucleoside phosphorylase deficiency hrdo:pat_id_672 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 606579 D014820 10047642 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22vitiligo%22%5BMeSH+Terms%5D+OR+Vitiligo%5BTi%5D L80 3435 56727007 C0042900 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Vitiligine Vitiligo Vitiligo Vitiligo Vitíligo Vitíligo hrdo:pat_id_673 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 609241 609242 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=alpha+n+acetylgalactosaminidase/df+OR+Schindler+disea*[ti]+OR+kanzaki+disea*[ti]+OR+%28acetylgalactosaminid*[ti]+OR+galactosaminid*[ti]%29+deficien*[tw] E77.1 3137 238048001 C0342850 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficiencia de N-acetil-alfa-D-galactosaminidasa Deficit di NAGA Deficiência de NAGA Déficit de NAGA Déficit en NAGA Enfermedad de Schindler Maladie de Schindler Malattia di Schindler NAGA deficiency NAGA, deficiência de NAGA-Mangel Schindler disease Alpha-N-acetylgalactosaminidase deficiency Deficit di alfa-N-acetilgalattosaminidasi Deficiência de N-acetil-alfa-D-galactosaminidase Déficit de N-acetil-alfa-D-galactosaminidasa Déficit en alpha-N-acétylgalactosaminidase N-Acetyl-Galactosaminidase-Mangel hrdo:pat_id_676 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 229700 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22fructose-1%2C6-diphosphatase+deficiency%22%5BMH%5D+OR+fructose+1+6+diphosphatase+deficiency%5Bti%5D+OR+fructose+1+6+bisphosphatase+deficiency%5Bti%5D E74.1 348 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Deficit di fruttosio-1,6 difosfatasi Deficiência de frutose-1,6-bisfosfatase Déficit de Fructosa-1,6 difosfatasa Déficit en fructose-1,6 diphosphatase Fructose-1,6-bisphosphatase deficiency Fruktose-1,6-Disphosphatase-Mangel hrdo:pat_id_677 Normal Normal Normal Normal Normal Normal Normale Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 300559 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=glycogen+storage+disease+type+viii%5Bmh%5D E74.0 715 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Enfermedad de almacenamiento de glucógeno tipo 9D Enfermedad de almacenamiento de glucógeno tipo 9E Enfermedad de almacenamiento de glucógeno tipo IXd Enfermedad de almacenamiento de glucógeno tipo IXe GSD Typ 9D GSD Typ 9E GSD Typ IXD GSD Typ IXE GSD da deficit di fosforilasi chinasi muscolare GSD due to muscle phosphorylase kinase deficiency GSD durch muskulären Phosphorylasekinase-Mangel GSD par déficit en phosphorylase kinase musculaire GSD por déficit de fosforilasa quinasa muscular GSD tipo 9D GSD tipo 9E GSD tipo IXd GSD tipo IXe GSD type 9D GSD type 9D GSD type 9E GSD type 9E GSD type IXd GSD type IXd GSD type IXe GSD type IXe GSD, tipo 9D GSD, tipo 9E GSD, tipo IXd GSD, tipo IXe Glicogenosi, tipo 9D Glicogenosi, tipo 9E Glicogenosi, tipo IXd Glicogenosi, tipo IXe Glucogenosis por déficit de fosforilasa quinasa muscular Glucogenosis tipo 9D Glucogenosis tipo 9E Glucogenosis tipo IXd Glucogenosis tipo IXe Glycogen storage disease type 9D Glycogen storage disease type 9E Glycogen storage disease type IXd Glycogen storage disease type IXe Glycogenosis due to muscle phosphorylase kinase deficiency Glycogenosis type 9D Glycogenosis type 9E Glycogenosis type IXd Glycogenosis type IXe Glycogénose type 9D Glycogénose type 9E Glycogénose type IXd Glycogénose type IXe Glykogen-Speicherkrankheit Typ 9D Glykogen-Speicherkrankheit Typ 9E Glykogen-Speicherkrankheit durch muskulären Phosphorylasekinase-Mangel Glykogenose Typ 9D Glykogenose Typ 9E Glykogenose Typ IXd Glykogenose Typ IXe Malattia da deposito di glicogeno da deficit di fosforilasi chinasi muscolare Malattia da deposito di glicogeno, tipo 9D Malattia da deposito di glicogeno, tipo 9E Malattia da deposito di glicogeno, tipo IXd Malattia da deposito di glicogeno, tipo IXe Deficiência de fosforilase cinase muscular Enfermedad de almacenamiento de glucógeno por déficit de fosforilasa quinasa muscular Glicogenosi da deficit di fosforilasi chinasi muscolare Glycogen storage disease due to muscle phosphorylase kinase deficiency Glycogénose par déficit en phosphorylase kinase musculaire Glykogenose durch muskulären Phosphorylasekinase-Mangel hrdo:pat_id_678 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 608099 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=muscular+dystrophy%5Bmajr%5D+AND+limb*girdle%5Btw%5D+AND+sarcoglycan%5Btw%5D G71.0 62 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Alfa-sarcoglicanopatia Alpha-Sarkoglykanopathie Alpha-sarcoglycanopathie Alpha-sarcoglycanopathy Alpha-sarcoglycanopathy Distrofia muscular das cinturas autossómica recessiva tipo 2D Distrofia muscular das cinturas por deficiência de alfa-sarcoglicano Distrofia muscular de cinturas por déficit de alfa-sarcoglicano Distrofia musculare dei cingoli da deficit di alfa-sarcoglicano Dystrophie musculaire des ceintures par déficit en alpha-sarcoglycane Gliedergürtelmuskeldystrophie durch alpha-Sarkoglykan-Mangel LGMD2D LGMD2D LGMD2D LGMD2D Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency Limb-girdle muscular dystrophy, due to alpha-sarcoglycan deficiency Alfa-sarcoglicanopatia Autosomal recessive limb-girdle muscular dystrophy type 2D Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2D Distrofia muscular de cinturas autosómica recesiva tipo 2D Dystrophie musculaire des ceintures autosomique récessive type 2D Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2D hrdo:pat_id_68 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=desmin+%28muscular+diseases%5Bti%5D+OR+muscular+diseases%5Bmh%5D+OR+myopathy%5Btw%5D%29 G71.8 593 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Miopatia com acumulação de desmina Miopatia miofibrilar Miopatia miofibrillare Miopatia relacionada com a desmina Miopatía relacionada con desmina Myofibrillar myopathy Myopathie myofibrillaire Myopathie, myofibrilläre hrdo:pat_id_690 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 147421 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22myositis%2C+inclusion+body%22%5BMeSH+Terms%5D+OR+Inclusion+body+myositis%5BText+Word%5D+OR+inclusion+body+myopathy%5Btw%5D M60.8 611 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 IBM IBM IBM IBM Miositis por cuerpos de inclusión esporádica Myosite à inclusions sporadique Sporadic inclusion body myositis sIBM sIBM sIBM Inclusion body myositis Miosite da corpi di inclusione Miosite de corpos de inclusão Miositis por cuerpos de inclusión Myosite à inclusions Sporadische Einschlusskörper-Myositis hrdo:pat_id_697 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 123400 D007562 10011384 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%22creutzfeldt-jakob+syndrome%22%5BTIAB%5D+NOT+Medline%5BSB%5D%29+OR+%22creutzfeldt-jakob+syndrome%22%5BMeSH+Terms%5D A81.0 204 792004 C0022336 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 CJD Creutzfeldt-Jakob disease Creutzfeldt-Jakob-Krankheit Doença de Creutzfeldt-Jakob Enfermedad de Creutzfeldt-Jakob Maladie de Creutzfeldt-Jakob Malattia di Creutzfeldt-Jakob hrdo:pat_id_698 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 117000 255320 607552 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(myopath*+OR+Neuromuscular+Diseases)+(multicore+OR+%22multiple+cores%22+OR+%22multi+minicore%22) G71.2 598 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Doença multiminicore MmD Multi-minicore Disease, MmD Multiminicore disease Multiminicore, doença Multiminicore-Krankheit (MmD) Miopatia "multiminicore" Miopatia multiminicore Miopatía multiminicore Multiminicore myopathy Multiminicore-Myopathie Myopathie à multi-minicores hrdo:pat_id_7 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 248510 D044905 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=beta+mannosidos*%5Bti%5D+OR+beta+mannosidosis%5Bmh%5D+OR+%28Beta+mannosidase%5Btw%5D+AND+deficiency%5Btw%5D%29 E77.1 118 238047006 C0342849 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Beta-Mannosidase-Mangel, lyosomaler Beta-mannosidase deficiency Beta-manosidase lisossomal, deficiência de Beta-manosidase, deficiência de Deficit di beta-mannosidasi lisosomiale Deficiência de beta-manosidase Deficiência de beta-manosidase lisossomal Déficit de beta-manosidasa lisosomal Déficit en bêta-mannosidase lysosomale Beta-Mannosidose Beta-mannosidasi Beta-mannosidosis Beta-manosidose Beta-manosidosis Bêta-mannosidose hrdo:pat_id_700 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D017285 10036102 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22polymyositis%22%5BMeSH+Terms%5D+OR+%28Polymyositis%5BTi%5D+NOT+medline%5Bsb%5D%29 M33.2 732 31384009 C0085655 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Adult-onset polymyositis PM PM PM Polymyosite de l'adulte Polimiosite Polimiosite Polimiositis Polymyosite Polymyositis Polymyositis hrdo:pat_id_701 Variabel Variabile Variable Variable Variable Variable Variável D003882 10012503 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22dermatomyositis%22%5BMeSH+Terms%5D+OR+%28%28inflammatory+myopathies%5BTIAB%5D+OR+Dermatomyositis%5BTIAB%5D%29+NOT+medline%5BSB%5D%29 M33.0 M33.1 221 396230008 C0011633 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Adult-onset dermatomyositis DM DM DM DM Dermatomyosite de l'adulte Dermatomiosite Dermatomiosite Dermatomiositis Dermatomyosite Dermatomyositis Dermatomyositis hrdo:pat_id_7021 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 164100 164150 193003 257400 300589 300814 310700 310800 608345 614826 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Nystagmus%5Bti%5D+%28idiopathic%5Bti%5D+OR+congenital%29+OR+Nystagmus%2C+congenital%5Bmh%5D H55 651 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 6-9 / 10 000 Motor congenital nystagmus Nistagmo motor congénito Nistagmo motorio congenito Nystagmus congénital moteur Nystagmus, kongenitaler, motorischer Congenital idiopathic nystagmus Nistagmo congénito Nistagmo idiopatico congenito Nistagmo idiopático congénito Nystagmus congénital idiopathique Nystagmus, kongenitaler, idiopathischer hrdo:pat_id_7022 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 165300 258500 311050 605293 610708 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Optic+atrophy%5Bti%5D+OR+Dominant+Optic+Atrophy%5Bmh%5D+OR+Optic+Atrophies%2C+Hereditary%5Bmh%3Anoexp%5D%29+NOT+Leber+Optic+Atrophy H47.2 103 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Atrofia ottica genetica Atrofia óptica genética Atrofia ótica Atrophie optique génétique Genetic optic atrophy Optikusatrophie, genetisch bedingte hrdo:pat_id_7023 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 133200 neant Q82.8 317 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 EKV EKV EKV EKV EKV Eritrocheratodermia variabilis, tipo Mendes da Costa Eritroqueratodermia variable, tipo Mendes da Costa Erythrokeratoderma variabilis Typ Mendes da Costa Erythrokeratodermia variabilis, Mendes da Costa type Erythrokératodermie variable de Mendes da Costa Eritrocheratodermia variabilis Eritroqueratodermia variable Eritroqueratodermia variável tipo Mendes da Costa Erythrokeratodermia variabilis Erythrokeratodermia variabilis Erythrokératodermie variable hrdo:pat_id_7024 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 262650 neant E23.0 629 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Kowarski syndrome Kowarski, síndrome de Kowarski-Syndrom Sindrome di Kowarski Syndrome de Kowarski Síndrome de Kowarski Síndrome de Kowarski Wachstumshormonmangel Typ 1 Bassa statura da difetto quantitativo dell'ormone della crescita Estatura baja por anomalía cualitativa de hormona de crecimiento Kleinwuchs durch qualitative Wachstumshormonanomalien Nanismo por defeito qualitativo da hormona do crescimento Petite taille par anomalie qualitative de l'hormone de croissance Short stature due to growth hormone qualitative anomaly hrdo:pat_id_7025 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 307200 neant D80.0 E23.0 632 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive clinical subtype Bassa statura da deficit isolato dell'ormone della crescita associato a ipogammaglobulinemia legata all'X Estatura baja por déficit aislado de hormona de crecimiento asociado a hipogammaglobulinemia ligada al X Kleinwuchs durch isolierten Wachstumshormonmangel mit X-chromosomaler Hypogammaglobulinämie Nanismo por deficiência isolada de hormona do crescimento - hipogamaglobulinemia ligada ao X Petite taille par déficit isolé en hormone de croissance associé à une hypogammaglobulinémie liée à l'X Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia hrdo:pat_id_7026 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 224900 614941 D053360 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=ectodermal+dysplasia+%28anhidrotic%5Btw%5D+OR+hypohidrotic%5Btw%5D%29+recessive+NOT+%28x+linked%5Btw%5D%29 Q82.4 248 27025001 C0406702 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo etiological subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown AR-HED AR-HED AR-HED Autosomal recessive anhidrotic ectodermal dysplasia Displasia ectodérmica anhidrótica autosómica recesiva Dysplasie ectodermique anhidrotique autosomique récessive Autosomal recessive hypohidrotic ectodermal dysplasia Displasia ectodermica ipoidrotica, forma recessiva Displasia ectodérmica hipo-hidrótica autossómica recessiva Displasia ectodérmica hipohidrótica autosómica recesiva Dysplasie ectodermique hypohidrotique autosomique récessive Dysplasie, ektodermale hypohidrotische, autosomal-rezessive hrdo:pat_id_7027 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 129490 614940 neant Q82.4 1810 7731005 C0265331 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate etiological subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 AD-HED AD-HED AD-HED Autosomal dominant anhidrotic ectodermal dysplasia Displasia ectodérmica anhidrótica autosómica dominante Ectodermie dysplasique anhidrotique autosomique dominante Autosomal dominant hypohidrotic ectodermal dysplasia Displasia ectodermica ipoidrotica, forma dominante Displasia ectodérmica hipo-hidrótica autossómica dominante Displasia ectodérmica hipohidrótica autosómica dominante Dysplasie, ektodermale hypohidrotische, autosomal-dominante Ectodermie dysplasique hypohidrotique autosomique dominante hrdo:pat_id_7028 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável neant H20.8 H30.8 3437 193497004 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Sindrome uveomeningitica Syndrome d'uvéoméningite Síndrome de Uveomeningitis Uveo-meningitisches Syndrom Uveomenigitic syndrome Doença de Vogt-Koyanagi-Harada Enfermedad de Vogt-Koyanagi-Harada Maladie de Vogt-Koyanagi-Harada Malattia di Vogt-Koyanagi-Harada Vogt-Koyanagi-Harada disease Vogt-Koyanagi-Harada-Krankheit hrdo:pat_id_7029 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 178500 614742 614743 D054990 10021240 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Pulmonary+fibrosis%5Bti%5D+idiopathic%5Bti%5D J84.1 2032 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Doença intersticial pulmonar Enfermedad pulmonar intersticial Fibrose interstitielle diffuse idiopathique Intersticial pulmonar, doença Interstitielle Lungenkrankheit Malattia interstiziale del polmone Pneumonia intersticial usual (UIP) Pneumonie interstitielle usuelle Pneumonie, interstitielle, gewöhnliche Polmonite interstiziale usuale (UIP) UIP UIP (Usual interstitial pneumonia) Usual interstitial pneumonia Fibrose pulmonaire idiopathique Fibrose pulmonar idiopática Fibrosi polmonare idiopatica Fibrosis pulmonar idiopática Idiopathic pulmonary fibrosis Lungenfibrose, idiopathische hrdo:pat_id_703 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Variabel Variabile Variable Variable Variable Variable Variável 109650 D001528 10004213 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22behcet+syndrome%22%5BMeSH+Terms%5D+OR+Behcet+Syndrome%5BText+Word%5D+OR+%28Behcet+Syndrome%5BTIAB%5D+NOT+Medline%5BSB%5D%29+OR+Behcet+disease%5BTW%5D M35.2 117 310701003 C0004943 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Morbus Adamantiades-Behçet Behcet disease Behçet-Syndrom Doença de Behçet Enfermedad de Behçet Maladie de Behçet Malattia di Behçet hrdo:pat_id_7030 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Variabel Variabile Variable Variable Variable Variable Variável neant J44.8 1303 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown BOOP BOOP Bronchiolite constrictive Bronchiolite costrittiva Bronchiolite obstructive Bronchiolitis, konstriktive Bronquiolite constritiva Bronquiolitis constrictiva Constrictive bronchiolitis Obliterative bronchiolitis Bronchiolite obliterante con difetto ostruttivo della ventilazione Bronchiolite oblitérante avec trouble ventilatoire obstructif Bronchiolitis obliterans mit obstruktiver Lungenerkrankung Bronchiolitis obliterans with obstructive pulmonary disease Bronquiolite obliterante com doença pulmonar obstrutiva Bronquiolitis obliterante con enfermedad pulmonar obstructiva hrdo:pat_id_7032 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 189961 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Tracheobronchopathia+OR+Tracheopathia%29+%28osteochondroplastica+OR+osteoplastica%29 J98.0 3348 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Tracheopathia osteoplastica Tracheopathia osteoplastica Tracheopatia osteoplastica Trachéopathie ostéoplastique Traqueopatia osteoplásica Tracheobronchopathia osteochondroplastica Tracheobronchopathia osteochondroplastica Tracheobroncopatia osteocondroplastica Trachéo-bronchopathie chondro-ostéoplastique Traqueo-broncopatia osteocondroplásica Traqueobroncopatía condro-osteoplástica hrdo:pat_id_7033 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Eosinophilic+pneumonia%5Bti%5D+OR+Pulmonary+Eosinophilia%5Bmh%5D%29+%28chronic+OR+idiopathic%29+OR+Carrington%27s+disease+NOT+acute%5Bti%5D J82 2902 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Carrington's disease Carrington, síndrome de Carrington-Krankheit Chronic eosinophilic pneumonia Maladie de Carrington Pneumonie éosinophile chronique Sindrome di Carrington Síndrome de Carrington Síndrome de Carrington Idiopathic chronic eosinophilic pneumonia Neumopatía crónica idiopática eosinofílica Pneumopathie chronique idiopathique à éosinophiles Pneumopathie, eosinophile idiopathische, chronische Pneumopatia eosinofílica crónica idiopática Polmonite cronica idiopatica con eosinofili hrdo:pat_id_7034 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D018549 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Cryptogenic+organizing+pneumonia%5Bti%5D+OR+Bronchiolitis+Obliterans+Organizing+Pneumonia%5Bmajr%5D J84.8 1302 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Bronchiolite obliterante - polmonite organizzata Bronchiolite oblitérante avec organisation pneumonique Bronchiolitis obliterans mit organisierender Pneumonie Bronchiolitis obliterans organizing pneumonia Bronquiolite obliterante - pneumonia organizada Bronquiolitis obliterante con organización neumónica Cryptogenic organizing pneumonia Neumonía con organización criptogénica Pneumonie, kryptogene organisierende Pneumopathie organisée cryptogénique Pneumopatia criptogénica organizada Polmonite criptogenica organizzata hrdo:pat_id_7035 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 304150 C537860 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=%22Occipital+horn+syndrome%22+OR+(cutis+laxa%2Fge+(chromosome+X+OR+ATP7A)) E83.0 198 59399004 C0268353 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cutis laxa legata all'X Cutis laxa ligado al X Cutis laxa liée à l'X Cutis laxa, X-chromosomale EDS IX EDS IX EDS IX EDS IX EDS IX Ehlers-Danlos syndrome type IX Ehlers-Danlos syndrome, type 9 Ehlers-Danlos-Syndrome Typ 9 Ehlers-Danlos-Syndrome Typ IX Sindrome di Ehlers-Danlos, tipo 9 Sindrome di Ehlers-Danlos, tipo IX Syndrome d'Ehlers-Danlos type 9 Syndrome d'Ehlers-Danlos type IX Síndrome de Ehlers-Danlos de tipo 9 Síndrome de Ehlers-Danlos de tipo IX X-linked cutis laxa Occipital horn syndrome Okzipitalhorn-Syndrom Sindrome del corno occipitale Syndrome de la corne occipitale Síndrome corno occipital Síndrome del cuerno occipital hrdo:pat_id_7036 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 133780 305390 601813 605750 613310 C536382 neant H35.0 891 232063007 C0339539 C1851402 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Criswick-Schepens syndrome Criswick-Schepens, síndrome de Criswick-Schepens-Syndrom FEVR FEVR FEVR FEVR FEVR Sindrome di Criswick-Schepens Syndrome de Criswick-Schepens Síndrome de Criswick-Schepens Síndrome de Criswick-Schepens Familial exudative vitreoretinopathy Retinopathie, exsudative familiäre Retinopatia exsudativa familiar Vitreorretinopatía exudativa familiar Vitroretinopatia essudativa familiare Vitréorétinopathie exsudative familiale hrdo:pat_id_7037 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 520000 C536246 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=diabetes+(hearing+loss%5Bmh%5D+OR+deafness%5BTi%5D)+(mitochondr*%5Bti%5D+OR+maternal*%5Bti%5D) E13 H90.3 225 237619009 C0342289 Herencia mitocondrial Hérédité mitochondriale Mitochondrial inheritance Mitochondrial inheritance Mitochondriale Vererbung Modo de hereditariedade mitocondrial Trasmissione mitocondriale disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Diabete mitocondriale Diabetes y sordera heredadas por vía materna Diabetes, mitochondrialer Diabète mitochondrial MIDD MIDD MIDD MIDD MIDD (Maternally inherited diabetes and deafness) Mitochondrial diabetes Diabete-sordità a trasmissione materna Diabetes - Schwerhörigkeit, maternal vererbt Diabetes e surdez com hereditariedade materna Diabetes-sordera de transmisión materna Diabète-surdité de transmission maternelle Maternally inherited diabetes and deafness hrdo:pat_id_704 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 278300 603592 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=xanthine+oxidase/df+OR+xanthinuria%5Btw%5D E79.8 3467 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Calcolosi xantinica Classical xanthinuria Deficiência de xantina desidrogenase Enfermedad de cálculos de xantina Lithiase xanthique Urolitiasi xantinica Urolitiasis xántica Urolitíase xantica Xanthic urolithiasis Xanthine stone disease Xanthinurie classique Xanthinurie, klassische Xanthinurolithiasis Xantina desidrogenase, deficiência de Xantinuria classica Xantinuria clásica Hereditary xanthinuria Xanthinurie héréditaire Xanthinurie, hereditäre Xantinuria ereditaria Xantinuria hereditaria Xantinúria hrdo:pat_id_708 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 248600 615135 D008375 10026817 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=maple+syrup+urine+disease+OR+Branched+chain+ketoaciduria%5Bti%5D E71.0 511 190700007 24013007 27718001 C0024776 C0268576 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Alpha-Ketosäuredecarboxylase-Mangel BCKD deficiency BCKD-Mangel BCKDH deficiency Branched-chain ketoacid dehydrogenase deficiency Branched-chain ketoaciduria Cetoaciduria de cadena ramificada Cetoacidúria de cadeia ramificada Chetoaciduria a catena ramificata Cétaacidurie à chaînes ramifiées Deficit di BCKD Deficit di chetoacido deidrogenasi a catena ramificata Doença do xarope de bordo Déficit de BCKD Déficit de deshidrogenasa de cetoácidos de cadena ramificada Déficit en BCKD Déficit en BCKDH Déficit en céto-acide déshydrogénase Enfermedad de la orina con olor a jarabe de arce Leucinose Leucinose Leucinosi Leucinosis Leucinosis MSUD MSUD MSUD MSUD MSUD Maladie d'urine de sirop d'érable Verzweigtketten-Ketosäuredecarboxylase-Mangel Verzweigtkettenketoazidurie Xarope de bordo, doença do Ahornsirup-Krankheit Enfermedad de jarabe de arce Leucinose Maladie du sirop d'érable Malattia delle urine a ''sciroppo d'acero'' Maple syrup urine disease hrdo:pat_id_710 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 277380 277400 277410 C537359 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(homocystinuria+OR+cystathionine+beta+synthase+deficiency%5Btw%5D)+(methylmalonic+acid+OR+methylmalonic+aciduria%5Btw%5D) E72.1 26 C1848561 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acidemia metilmalónica - homocistinúria Aciduria metilmalonica con omocistinuria Aciduria metilmalónica con homocistinuria Acidurie méthylmalonique avec homocystinurie Combined defect in adenosylcobalamin and methylcobalamin synthesis Defecto combinado en la síntesis de adenosilcobalamina y metilcobalamina Difetto combinato della sintesi dell'adenosilcobalamina e della metilcobalamina Déficit combiné de synthèse de l'adénosylcobalamine et de la méthylcobalamine Kombinierter Defekt der Adenosylcobalamin und Methylcobalamin-Synthese Methylmalonazidämie - Homocystinurie Methylmalonic aciduria with homocystinuria Metilmalonicaciduria - omocistinuria Acidemia metilmalonica con omocistinuria Acidemia metilmalónica con homocistinuria Acidémie méthylmalonique avec homocystinurie Acidúria metilmalónica - homocistinúria Methylmalonazidurie - Homocystinurie Methylmalonic acidemia with homocystinuria hrdo:pat_id_711 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 231900 266130 C536835 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28pyroglutamic+AND+aciduria%29+OR+glutathione+synthase/df+OR+%28glutathione+synthase+deficiency%5Btw%5D%29 D55.1 32 124706000 234589002 C0398746 C1291643 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Aciduria piroglutammica Acidurie pyroglutamique Deficiência de glutationa sintetase Glutationa sintetase, deficiência de Pyroglutamicaciduria Pyroglutaminazidurie Acidúria piroglutâmica Deficit di glutatione sintetasi Déficit de glutatión sintetasa Déficit en glutathion synthétase Glutathione synthetase deficiency Glutathionsynthetase-Mangel hrdo:pat_id_713 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 203750 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=acetyl-coa+c-acyltransferase/df+OR+acetyl-coa+c-acetyltransferase/df+OR+beta+ketothiolase+deficiency%5Btw%5D+OR+oxothiolase+deficiency%5Btw%5D E71.1 134 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Alfa-2-metil-acetoacetil-CoA tiolase, deficiência de Alpha methyl acetoacetyl-CoA thiolase deficiency Alpha-Methyl-Acetoacetyl-CoA Thiolase-Mangel Deficit di MAT Deficit di alfa metil acetoacetil-CoA tiolasi Deficiência de MAT Deficiência de alfa-2-metil-acetoacetil-CoA tiolase Déficit en alpha méthyl acétoacétyl-CoA thiolase MAT, deficiência de MAT-Mangel Acidocétose par déficit en bêta-cétothiolase Acidosi chetonica da deficit di beta-chetotiolasi Cetoacidosis debida a déficit de beta-cetotiolasa Deficiência de cetoacidose por deficiência de beta-cetotiolase Ketoacidosis due to betaketothiolase deficiency Ketoazidose durch beta-Ketothiolase-Mangel hrdo:pat_id_715 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=pulmonary+agenesis%5Btw%5D Q33.3 984 morphological anomaly Agenesia polmonare Agenesia pulmonar Agenesia pulmonar Agénésie pulmonaire Lungenagenesie Pulmonary agenesis hrdo:pat_id_719 Variabel Variabile Variable Variable Variable Variable Variável 614079 D001228 10003488 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28aspergillosis%5Bmh%5D+OR+Aspergillosis%5Bti%5D%29+AND+%28congenital+OR+hereditary+OR+familial%29 B44 1163 65553006 C0004030 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Aspergillose Aspergillose Aspergillosi Aspergillosis Aspergilose Aspergilosis hrdo:pat_id_720 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter D001171 10059177 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=juvenile%5Bti%5D+arthritis%5BTi%5D+(idiopathic%5Bti%5D+OR+rheumatoid%5Bti%5D)+OR+arthritis,+juvenile+rheumatoid%5Bmajr%5D M08 92 239796000 410502007 410793008 410795001 C0553662 C1444838 group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Arthrite juvénile chronique Arthrite juvénile rhumatoïde Arthritis, chronische juvenile Arthritis, juvenile rheumatische Artrite cronica giovanile Artrite crónica juvenil Artrite reumatoide giovanile Artrite reumatóide juvenil Doença de Still Juvenile chronic arthritis Juvenile rheumatoid arthritis Still, doença de Arthrite juvénile idiopathique Arthritis, idiopathische juvenile Artrite idiopatica giovanile Artrite juvenil idiopática Artritis juvenil idiopática (término genérico) Juvenile idiopathic arthritis hrdo:pat_id_722 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 243600 C538260 10010626 neant Q41 1201 204702007 360491009 84296002 C0266172 C0266175 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Apfelschalen-Syndrom Apple peel syndrome Atresia del digiuno Atresia do jejuno Atresia yeyunal Atrésie jéjunale Casca de maça, síndrome de Christmas tree syndrome Jejunal atresia Jejunalatresie Sindrome "buccia di mela" Small intestinal atresia Syndrome apple peel Síndrome de Apple Peel Síndrome de casca de maça Síndrome árvore de Natal Árvore de Natal, síndrome Atresia de intestino delgado Atresia del piccolo intestino Atresia do intestino delgado Atresia of small intestine Atrésie du grêle Dünndarmatresie hrdo:pat_id_723 Variabel Variabile Variable Variable Variable Variable Variável 150300 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=laryngeal+atresia*%5Btw%5D+OR+%28larynx/ab+%28abnormalit*%5Bti%5D+OR+malformation*%5Bti%5D%29+%28larynx%5Bti%5D+OR+laryngeal%5Bti%5D%29%29 Q31.8 1202 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Kongenitales vorderes Glottisnetz Larynx-Atresie Atresia de laringe Atresia laringea Atresia laringea Atrésie du larynx Kehlkopfatresie Larynx atresia hrdo:pat_id_724 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 189960 D004933 10021530 10030146 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=esophageal+atresia%5BTi%5D+OR+oesophageal+atresia%5BTi%5D+OR+%22esophageal+atresia%22%5BMH%5D Q39.0 Q39.1 1199 204656005 26179002 C0014850 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Atresia de esófago Atresia esofagea Atresia esofágica Atrésie de l'oesophage Esophageal atresia Ösophagusatresie hrdo:pat_id_725 D002006 10006500 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=brucellosis%5Bmajr%5D A23 1304 75702008 C0006309 disease Brucellose Brucellose Brucellosi Brucellosis Brucelose Brucelosis hrdo:pat_id_726 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Variabel Variabile Variable Variable Variable Variable Variável D002771 10008631 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28cholera%5BMajr%5D+OR+Cholera%5BTi%5D%29+AND+%28humans+OR+child+OR+patient*%29 A00 173 63650001 C0008354 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Cholera Cholera Choléra Colera Cólera Cólera hrdo:pat_id_727 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 168900 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Chondromalacia+patellae M22.4 1428 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Patellofemoral syndrome Patellofemorales Schmerzsyndrom Rotulo-femural, síndrome Sindrome patellofemorale Syndrom der vorderen Knieschmerzen Syndrome patello-fémoral Síndrome rotulo-femural Chondromalacia patellae Chondromalacie patellaire familiale Condromalacia Condromalacia patellare familiare Condromalácia da rótula Familial chondromalacia patellae hrdo:pat_id_730 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 600057 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%28Exstrophy%5Btw%5D+AND+bladder%5Bti%5D%29+OR+Bladder+Exstrophy%5Bmh%5D%29+AND+%28epispadias%5Bmh%5D+OR+epispadias%5Bti%5D%29 Q64.1 322 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown BEEC BEEC BEEC BEEC Bladder exstrophy-epispadias-cloacal extrophy complex CEE Complejo extrofia vesical-epispadias-extrofia cloacal EEC EEC EEC EEC Estrofia-epispadia della vescica-estrofia della cloaca complessa Blasenekstrophie-Epispadie-Komplex Complejo extrofia-epispadias Complexo de extrofia da bexiga - epispádias Estrofia-epispadia complessa Exstrophie vésicale-épispadias Exstrophy-epispadias complex hrdo:pat_id_731 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 230750 D020139 10018046 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=gastroschisis Q79.3 2368 72951007 C0265706 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Bauchwandspalte Gastroschisis Laparoschisi Laparoschisis Laparoschisis Laparosquisis Gastroschisi Gastroschisis Gastroschisis Gastrosquisis Gastrosquisis Laparoschisis hrdo:pat_id_732 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 251200 603802 604317 604321 604804 608393 608716 612703 614673 614852 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Microcephalia+vera%5Btw%5D+OR+%28%28microcephaly%5Bmh%5D+OR+microcephaly%5Btw%5D%29+AND+gyral%5Btw%5D+AND+pattern%5Btw%5D%29 Q02 2512 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown MCPH MCPH MCPH MCPH Microcefalia vera Microcefalia vera Microcefalia verdadera Microcephalia vera Microcephaly vera Microcéphalie vraie True microcephaly Autosomal recessive primary microcephaly Microcefalia isolada congénita Microcefalia primaria autosómica recesiva Microcefalia primitiva autosomica recessiva Microcéphalie primaire autosomique récessive Mikrozephalie, primäre, autosomal-rezessive hrdo:pat_id_733 603596 D017689 10036063 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=polydactyly%5Bmajr%5D Q69 2913 367506006 C0152427 group of phenomes Polidactilia (termo genérico) Polidactilia (término genérico) Polidattilia Polydactylie Polydactyly Polydaktylie hrdo:pat_id_734 Variabel Variabile Variable Variable Variable Variable Variável 10039447 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=salmonella+infections%5Bmajr%5D A01 A02 795 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Salmonellose Salmonellose Salmonellosi Salmonellosis Salmonelose Salmonelosis hrdo:pat_id_735 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 181000 612387 612388 D012507 10039486 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22sarcoidosis%22%5BMeSH+Terms%5D+OR+%28Sarcoidosis%5BTi%5D+NOT+medline%5Bsb%5D%29 D86 797 31541009 C0036202 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Besnier-Boeck-Schaumann disease Besnier-Boeck-Schaumann, doença de Besnier-Boeck-Schaumann-Krankheit Boeck sarcoid Boeck's sarcoid Boeck-Krankheit Doença de Besnier-Boeck-Schaumann Enfermedad de Besnier-Boeck-Schaumann Enfermedad de Boeck Maladie de Besnier-Boeck-Schaumann Maladie de Boeck Malattia di Besnier-Boeck-Schaumann Malattia di Boeck Sarcoide de Boeck Sarcoidose Sarcoidosi Sarcoidosis Sarcoidosis Sarcoïdose Sarkoidose hrdo:pat_id_738 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 611881 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=fructose-bisphosphate+aldolase/df%5Bmh%5D+AND+aldolase+a%5Btw%5D E74.0 57 111578003 C0272066 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Enfermedad de almacenamiento de glucógeno tipo 12 GSD da deficit di aldolasi A GSD due to aldolase A deficiency GSD par déficit en aldolase A musculaire GSD por déficit de aldolasa A GSD tipo 12 GSD type 12 GSD type 12 GSD, tipo 12 Glicogenosi da deficit di aldolasi A Glicogenosi, tipo 12 Glucogenosis por déficit de aldolasa A Glucogenosis tipo 12 Glycogen storage disease type 12 Glycogenosis due to aldolase A deficiency Glycogenosis type 12 Glycogènose type 12 Malattia da deposito di glicogeno, tipo 12 Aldolase A-Mangel, muskulärer Deficiência de aldolase A Enfermedad de almacenamiento de glucógeno por déficit de aldolasa A Glycogen storage disease due to aldolase A deficiency Glycogènose par déficit en aldolase A musculaire Malattia da deposito di glicogeno dovuta a deficit di aldolasi A hrdo:pat_id_739 Variabel Variabile Variable Variable Variable Variable Variável 300653 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28phosphoglycerate+kinase/df+OR+Phosphoglycerate+kinase+deficiency%5Btw%5D%29+AND+%28humans%5Bmh%5D+OR+patient*+OR+child%5Bmh%5D%29 D55.2 713 124335006 C0684324 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 GSD da deficit di fosfoglicerato chinasi GSD due to phosphoglycerate kinase 1 deficiency GSD par déficit en phosphoglycérate kinase GSD por déficit de fosfoglicerato quinasa 1 Glicogenosi da deficit di fosfoglicerato chinasi Glucogenosis por déficit de fosfoglicerato quinasa 1 Glycogenosis due to phosphoglycerate kinase 1 deficiency Deficiência de fosfoglicerato cinase 1 Enfermedad de almacenamiento de glucógeno por déficit de fosfoglicerato quinasa 1 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Glycogènose par déficit en phosphoglycérate kinase 1 Malattia da deposito di glicogeno dovuta a deficit di fosfoglicerato chinasi Phosphoglycerat-Kinase-Mangel hrdo:pat_id_741 238320 10024406 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Leydig+cell+hypoplasia%5Btw%5D+OR+luteinizing+hormone/df+OR+%28Receptors%2C+LH/ge%5Bmajr%5D+leydig+cells%29 Q56.1 755 C0860158 disease 46,XY DSD due to LH resistance or LHB deficiency 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency 46,XY disorder of sex development due to LH resistance or LHB deficiency 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency ADS 46,XY par résistance à l'hormone lutéinisante ou déficit en hormone lutéinisante bêta ADS 46,XY par résistance à la LH ou déficit en LHB Anomalie du développement sexuel 46,XY par résistance à l'hormone lutéinisante ou déficit en hormone lutéinisante bêta Anomalie du développement sexuel 46,XY par résistance à la LH ou déficit en LHB DSD 46,XY par résistance à l'hormone lutéinisante ou déficit en hormone lutéinisante bêta DSD 46,XY par résistance à la LH ou déficit en LHB LH-Resistenz durch LH-Rezeptor-Inaktivierung Male pseudohermaphrodism due to LH resistance or LHB deficiency Male pseudohermaphrodism due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency Pseudo-hermafroditismo masculino por deficiência na molécula de LH Pseudoermafroditismo maschile da difetto di LH Pseudohermafroditismo masculino por defectos de la LH Pseudohermaphrodisme masculin par résistance à l'hormone lutéinisante ou déficit en hormone lutéinisante bêta Pseudohermaphrodisme masculin par résistance à la LH ou déficit en LHB Pseudohermaphroditismus, männlicher durch LH-Mangel Resistencia a LH por inactivación del receptor de LH Resistenza a LH da inattivazione del recettore LH Hipoplasia das células de Leydig Hipoplasia de células de Leydig Hypoplasie des cellules de Leydig Ipoplasia delle cellule di Leydig Leydig cell hypoplasia Leydig-Zell-Hypoplasie hrdo:pat_id_742 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 148190 C537022 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hereditary+keratitis%5Btw%5D+OR+Autosomal+dominant+keratitis%5Btw%5D+OR+%28Keratitis/ge+AND+hereditary+AND+cornea/pa%29 H16.8 2334 C1835698 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cheratite ereditaria Hereditary keratitis Keratitis, hereditäre Kératite héréditaire Queratitis hereditaria Autosomal dominant keratitis Cheratite autosomica dominante Keratitis, autosomal-dominate Kératite autosomique dominante Queratite hereditária Queratitis autosómica dominante hrdo:pat_id_743 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 607278 D005357 10016664 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22fibrous+dysplasia+of+bone%22%5BMH%5D+OR+Fibrous+Dysplasia+of+Bone%5BTi%5D+OR+ALBRIGHT%27S+DISEASE%5BTW%5D+OR+JAFFE-LICHTENSTEIN%5Btw%5D Q78.1 249 10623005 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Dysplasie ostéofibreuse Osteofibrous dysplasia Displasia fibrosa de hueso Displasia fibrosa dell'osso Displasia óssea fibrosa Dysplasie fibreuse des os Fibrous dysplasia of bone Knochendysplasie, fibröse hrdo:pat_id_744 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 103920 D001229 10006474 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=aspergillosis%2C+allergic+bronchopulmonary%5Bmh%5D+OR+allergic+bronchopulmonary+aspergillosis%5BTi%5D B44.1 1164 37981002 C0004031 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown ABPA ABPA ABPA ABPA ABPA Allergic aspergillosis Aspergillose allergique Aspergillose, allergische Aspergillosi allergica Aspergilosis alérgica Doença de Hinson-Pepys Enfermedad de Hinson-Pepys Hinson-Pepys disease Hinson-Pepys, doença de Hinson-Pepys-Krankheit Lungenaspergillose Maladie de Hinson-Pepys Malattia di Hinson-Pepsy Allergic bronchopulmonary aspergillosis Aspergillose broncho-pulmonaire allergique Aspergillose, allergische bronchopulmonale Aspergillosi broncopolmonare allergica Aspergilose broncopulmonar alérgica Aspergilosis bronco-pulmonar alérgica hrdo:pat_id_745 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável C531653 D015267 10048594 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=churg+strauss+syndrome%5Bmh%5D+OR+Churg+Strauss+Syndrome%5Bti%5D M30.1 183 82275008 C0008728 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Angiitis, allergische granulomatöse Angioite allergica granulomatosa Angéite allergique granulomateuse Granulomatous allergic angiitis Churg-Strauss syndrome Churg-Strauss-Syndrom Doença de Churg-Strauss Sindrome di Churg-Strauss Syndrome de Churg-Strauss Síndrome de Churg-Strauss hrdo:pat_id_746 Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=(Kohler%5Btw%5D+OR+Sever%5Btw%5D+OR+Freiberg+OR+Metatarsophalangeal+Joint+OR+Metatarsus%5Bmh%5D+OR+tarsal+bones+OR+metatarsal+bones)+Osteochondritis%5Bmh%5D M93.2 2054 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Aseptic necrosis of the tarsal bone Aseptische Nekrose der Fußwurzelknochen Doença de Kohler Kohler, doença de Necrosi asettica delle ossa tarsali Necrosis aséptica de hueso tarsiano Osteochondrosis der Fußwurzelknochen Osteochondrosis of the tarsal bone Osteocondrosi delle ossa tarsali Osteocondrosis de hueso tarsiano Doença de Freiberg Osteochondritis der tarsalen/metatarsalen Knochen Osteochondritis of tarsal/metatarsal bone Osteocondrite delle ossa tarsali/metatarsali Osteocondritis de hueso tarsiano/metatarsiano Ostéochondrite des os du tarse/métatarse hrdo:pat_id_747 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 233450 10018620 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=goodpasture+syndrome%5Bmh%5D+OR+Goodpasture+syndrome%5Bti%5D+OR+Goodpasture%27s+syndrome%5Bti%5D M31.0 375 50581000 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Anti-glomerular basement membrane antibody-mediated disease Antikörper vermittelte Krankheit der glomerulären Basalmembran Enfermedad mediada por anticuerpos anti-membrana basal glomerular Glomerulonefrite por anticorpos anti-membrana basal glomerular Maladie des anticorps anti-membrane basale glomérulaire Malattia mediata da anticorpi anti-membrana basale del glomerulo renale Goodpasture syndrome Goodpasture-Syndrom Sindrome pneumorenale di Goodpasture Syndrome de Goodpasture Síndrome pneumo-renal de Goodpasture Síndrome pneumo-renal de Goodpasture hrdo:pat_id_748 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 104290 614820 C536589 neant G98 2131 230466004 C0338488 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 AHC AHC AHC AHC Alternating hemiplegia in childhood Emiplegia alternante del bambino Hemiplejia alternante en la infancia Alternating hemiplegia of childhood Emiplegia alternante dell'infanzia Hemiplegia alternante Hemiplegie, alternierende, der Kindheit Hemiplejia alternante de la infancia Hémiplégie alternante de l'enfance hrdo:pat_id_749 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=henoch+schonlein+purpura%5Bti%5D+OR+rheumatoid+purpura%5Bti%5D+OR+purpura%2C+schoenlein+henoch%5Bmh%5D D69.0 761 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Anaphylactoid purpura Porpora anafilattoide Porpora reumatica Porpora reumatoide Purpura anaphylactique Purpura de Henoch-Schönlein Purpura rheumatica Purpura rheumatica Purpura, anaphylaktoide Púrpura anafilactoide Púrpura de Henoch-Schoenlein Púrpura reumatoide Púrpura reumática Rheumatische Purpura Rheumatoid purpura Schoenlein-Henoch-Purpura Henoch-Schönlein Purpura Henoch-Schönlein purpura Porpora di Henoch-Schönlein Purpura rhumatoïde Púrpura de Henoch-Schoenlein Púrpura reumatóide hrdo:pat_id_75 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 160800 255700 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=myotonia+congenita%5Bmh%5D+OR+Thomsen+Dis*%5Bti%5D+OR+Thomsen%27s+Dis*%5Bti%5D+OR+myotonia+congenita%5Bti%5D G71.1 614 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Miotonia congénita Miotonía congénita Myotonia congenita Myotonia congenita Doença de Thomsen e Becker Enfermedad de Thomsen y Becker Malattia di Thomsen e Becker Myotonia congenita Typ Thomsen und Becker Myotonie congénitale de Thomsen et Becker Thomsen and Becker disease hrdo:pat_id_750 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável D007922 10024238 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28leptospirosis%5Bmajr%5D+OR+Leptospirosis%5Bti%5D%29+AND+%28humans+OR+patient*%29 A27 509 77377001 C0023364 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Leptospirose Leptospirose Leptospirose Leptospirosi Leptospirosis Leptospirosis hrdo:pat_id_751 Variabel Variabile Variable Variable Variable Variable Variável 10024792 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28quadriplegia%5BTI%5D+OR+Nervous+System+Diseases%5Bmh%5D+OR+paralysis%5Ball%5D%29+AND+locked+in%5Btw%5D G83.8 2406 38023001 C0023944 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cerebromedullospinal disconnection Desconexión cerebromeduloespinal Disconnessione cerebro-midollo-spinale Déconnexion cérébro-médullaire spinale pseudo coma Syndrome d'enfermement Syndrome de vérouillage Síndrome locked-in Zerebro-medullo-spinale Unterbrechung Locked-In-Syndrome Locked-in syndrome Locked-in syndrome Sindrome ''locked-in'' Síndrome Locked-in Síndrome de enclaustramiento hrdo:pat_id_752 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Primary%5Btw%5D+AND+%28pulmonary%5Bti%5D+OR+lung%5Bti%5D%29+AND+lymphoma%5Bti%5D C85.9 2420 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Linfoma polmonare primitivo Linfoma pulmonar primario Linfoma pulmonar primário Lungenlymphom, primäres Lymphome pulmonaire primitif Primary pulmonary lymphoma hrdo:pat_id_7521 Variabel Variabile Variable Variable Variable Variable Variável 262890 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=blood+coagulation+disorders%5Bmajr%5D+AND+scott%5Bti%5D D69.8 806 128098009 C0796149 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Scott syndrome Scott-Syndrom Sindrome di Scott Syndrome de Scott Síndrome de Scott Síndrome de Scott hrdo:pat_id_753 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D055953 10063344 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22microscopic+polyangiitis%22%5Btw%5D+OR+microscopic+angiitis%5Btw%5D M31.7 727 C0343192 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Angeítis por hipersensibilidad Angioite da ipersensibilità Angéite allergique Hypersensitivity angiitis MPA MPA MPA MPA MPA Micropoliangeítis Micropoliangioite Micropolyangiitis Micropolyangéite Microscopic polyarteritis Mikroskopische Panarteriitis PAM Poliarterite microscopica Poliarteritis microscópica Polyartérite microscopique Microscopic polyangiitis Poliangeíte microscópica Poliangeítis microscópica Poliangite microscopica Polyangiitis, mikroskopische Polyangéite microscopique hrdo:pat_id_754 Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Shigellosis%5Bmajr%5D+OR+Shigellosis%5Bti%5D A03 810 36188001 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Shigellose Shigellose Shigellosis Shigelose Shigelosis Sighellosi hrdo:pat_id_755 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 226350 10014954 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=eosinophilic+fasciitis%5Btw%5D+OR+Shulman+syndrome%5Btw%5D+OR+%28%22eosinophilia%22%5BMeSH+Major+Topic%5D+AND+%22fasciitis%22%5BMeSH+Major+Topic%5D%29 M35.4 3165 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Diffuse fasciitis with eosinophilia Fasciite diffuse avec éosinophilie Fascite diffusa con eosinofilia Fascitis difusa con eosinofilia Shulman syndrome Shulman, síndrome de Shulman-Syndrom Sindrome di Shulman Syndrome de Shulman Síndrome de Shulman Síndrome de Shulman Eosinophilic fasciitis Fasceíte eosinofílica Fasciite à éosinophiles Fascite eosinofila Fascitis eosinofílica Fasziitis, eosinophile hrdo:pat_id_756 Normal Normal Normal Normal Normal Normal Normale Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 184700 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=polycystic+ovary+syndrome%5Bti%5D+OR+Stein+Leventhal+syndrome%5Bti%5D+OR+polycystic+ovary+syndrome%5Bmajr%5D E28.2 3185 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Doença do ovário poliquístico familiar Malattia dell'ovaio policistico Ovário poliquístico familiar, doença do PCOS PCOS PCOS PCOS Polyzystisches Ovarialsyndrom SOPK Stein-Leventhal syndrome Syndrom der polyzystischen Ovarien Syndrome de Stein-Leventhal Síndrome de Stein-Leventhal Polycystic ovarian syndrome Sindrome di Stein-Leventhal Stein-Leventhal-Syndrom Syndrome des ovaires polykystiques Síndrome de Stein-Leventhal Síndrome del ovario poliquístico hrdo:pat_id_757 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável D014235 10044608 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=trichinosis%5Bmajr%5D+OR+Trichinellosis%5Bti%5D+OR+trichinosis%5Bti%5D B75 863 88264003 C0040896 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Trichinose Trichinose Trichinosi Trichinosis Triquinose Triquinosis Trichinellose Trichinellose Trichinellosi Trichinellosis Triquinelose Triquinelosis hrdo:pat_id_759 Variabel Variabile Variable Variable Variable Variable Variável 608710 D014890 10047888 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=wegener%27s+granulomatosis%5Bmh%5D+OR+wegener%27s+granulomat*%5Bti%5D+OR+wegener+granulomat*%5Bti%5D M31.3 900 195353004 239934006 C0043092 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 GPA GPA GPA GPA GPA Granulomatose avec polyangéite Granulomatose de Wegener Granulomatose mit Polyangiitis Granulomatosi con poliangite Granulomatosis con poliangeítis granulomatosis with polyangiitis Granulomatose de Wegener Granulomatosi di Wegener Granulomatosis de Wegener Maladie de Wegener Wegener granulomatosis Wegener-Granulomatose hrdo:pat_id_76 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 168300 C538616 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%22myotonic+disorders%22%5BMH%5D+OR+Paramyotonia+congenita%5BTW%5D%29+AND+eulenburg%5Btw%5D G71.1 684 C1868617 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Paramiotonia congenita Paramiotonía congénita Paramyotonia congenita Paramyotonie congénitale Paramiotonia congenita di Von Eulenburg Paramiotonia congénita de Von Eulenburg Paramiotonía congénita de Von Eulenburg Paramyotonia congenita Eulenburg Paramyotonia congenita of Von Eulenburg Paramyotonie d'Eulenburg hrdo:pat_id_760 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance D003409 10010510 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=cretinism%5Bti%5D+OR+cretinism%5Bmh%5D+OR+Congenital+hypothyroidism%5Btw%5D E00 E03.0 E03.1 442 190268003 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Congenital hypothyroidism Hipotiroidismo congénito Hipotiroidismo congénito Hypothyreose, kongenitale Hypothyroïdie congénitale Ipotiroidismo congenito hrdo:pat_id_761 Variabel Variabile Variable Variable Variable Variable Variável 300100 302700 D000326 10051260 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=adrenoleukodystrophy%5Bmajr%5D+AND+X+linked%5Btw%5D E71.3 43 65389002 C0162309 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 ALD ALD ALD ALD ALD ALD legata all'X ALD ligada al X ALD liée à l'X ALD, X-chromosomale Adrenomieloneuropatia, AMN X-ALD X-ALD X-ALD X-ALD X-ALD X-ALD X-linked ALD Adrenoleucodistrofia legata all'X Adrenoleucodistrofia ligada al X Adrenoleucodistrofia ligada ao X Adrenoleukodystrophie, X-chromosomale Adrénoleucodystrophie liée à l'X X-linked adrenoleukodystrophy hrdo:pat_id_762 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter D020159 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=argininosuccinate+synthase/df%5Bmajr%5D E72.2 187 398630005 398680004 C0175683 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Arginino-Succinat-Synthetase-Mangel Argininossuccinato sintetase, deficiência de Deficiência de argininossuccinato sintetase Citrulinemia Citrulinemia Citrullinemia Citrullinemia Citrullinémie Zitrullinämie hrdo:pat_id_763 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 103050 C538235 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=adenylosuccinate+lyase/df+OR+Adenylosuccinate+lyase+deficiency%5Btw%5D+OR+Adenylosuccinase+deficiency%5Btw%5D E79.8 46 15285008 C0268126 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ADSL deficiency Adenilossuccinase, deficiência de Adenylosuccinase deficiency Adenylosuccinase-Mangel Deficit di adenilsuccinasi Deficiência de adenilossuccinase Déficit en ADSL Déficit en adénylosuccinase Adenylosuccinat-Lyase-Mangel Adenylosuccinate lyase deficiency Deficit di adenilsuccinato liasi Deficiência de adenilossuccinato liase Déficit de adenilsuccinato liasa Déficit en adénylosuccinate lyase hrdo:pat_id_765 Variabel Variabile Variable Variable Variable Variable Variável 210250 C537345 10063985 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Phytosterolemia%5Btw%5D+OR+phytosterolaemia%5Btw%5D+OR+sitosterolaemia%5Btw%5D+OR+sitosterolemia%5Btw%5D E78.0 2882 238104009 C0342907 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Fitosterolemia Fitosterolemia Phytosterolemia Phytosterolämie Phytostérolémie Sitoesterolemia Xanthomatose avec sitostérolémie Xanthomatose mit Sitosterolämie Xanthomatosis with sisterolemia Xantomatosi con sisterolemia Xantomatosis con sitosterolemia Fitoesterolemia Sitosterolemia Sitosterolemia Sitosterolemia Sitosterolämie Sitostérolémie hrdo:pat_id_766 269921 C537332 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=french%5Btw%5D+sialuria E77.8 3166 34566007 C2931471 disease Sialuria tipo francés Sialuria, French type Sialuria, tipo francese Sialurie type francais Sialuria Sialuria Sialuria Sialurie Sialurie, französischer Typ Sialúria tipo francês hrdo:pat_id_77 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 160900 C538008 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22myotonic+dystrophy%22%5BMeSH+Terms%5D+OR+myotonic+dystrophy%5BTi%5D+OR+myotonic+dystrophies%5Bti%5D+OR+steinert+syndrome%5BTi%5D G71.1 273 77956009 C2931688 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Curschmann-Steinert-Syndrom DM1 DM1 DM1 DM1 Distrofia miotonica, tipo 1 Distrofia miotónica tipo 1 Distrofia miotónica tipo 1 Doença de Steinert Enfermedad de Steinert MD1 MD1 MD1 MD1 Maladie de Steinert Malattia di Steinert Myotone Dystrophie Typ 1 Myotonic dystrophy type 1 Steinert disease Steinert, doença de Steinert-Krankheit Distrofia miotonica di Steinert Distrofia miotónica de Steinert Distrofia miotónica de Steinert Dystrophie myotonique de type 1 Myotone Dystrophie Steinert Steinert myotonic dystrophy hrdo:pat_id_770 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 238970 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Triple+H+syndrome%5Btw%5D+OR+HHH+syndrome%5Btw%5D%29+AND+ornithine+OR+hyperornithinemia+hyperammonemia+homocitrullinuria%5Btw%5D E72.4 415 disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 HHH syndrome HHH-Syndrom Hiperornitinemia - hiperamoniémia - homocitrulinúria Sindrome HHH Sindrome della tripla H Syndrome HHH Syndrome triple H Síndrome HHH Síndrome de la triple H Triple H syndrome Triple-H-Syndrom Hiperornitinemia - hiperamonemia - homocitrulinuria Hyperornithinemia-hyperammonemia-homocitrullinuria Hyperornithinämie-Hyperammonämie-Homocitrullinämie Hyperornithinémie - hyperammoniémie - homocitrullinurie Iperornitinemia-iperammoniemia-omocitrullinuria Síndrome de Triplo H (HHH) hrdo:pat_id_771 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 261640 C535325 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%286-pyruvoyltetrahydropterin+synthase%5Bnm%5D+OR+6-pyruvoyl+tetrahydropterin+synt*%5Btw%5D%29+deficiency E70.1 13 C0878676 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hiperfenilalaninemia por deficiência de 6-piruvoil-tetrahidropterina sintase Hyperphenylalalinanämie durch 6-Pyruvoyl-Tetrahydropterin-Synthase-Mangel Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency Hyperphenylalaninämie mit Tetrahydrobiopterin-Mangel, A Hyperphénylalaninémie par déficit en 6-pyruvoyl-tétrahydroptérine synthase Iperfenilalaninemia da deficit di 6-piruvoil-tetraidropterina-sintasi PTS-Mangel 6-Pyruvoyl-Tetrahydropterin-Synthase-Mangel 6-pyruvoyl-tetrahydropterin synthase deficiency Deficit di 6-piruvoil-tetraidropterina-sintasi Deficiência de 6-piruvoil-tetrahidropterina sintase Déficit de 6-piruvil-tetrahidropterina sintasa Déficit en 6-pyruvoyl-tétrahydroptérine synthase hrdo:pat_id_773 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 268900 C537236 10059299 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Sarcosinemia+OR+sarcosinaemia+OR+%28sarcosine+dehydrogenase%5Bti%5D+AND+%28deficien*%5Bti%5D+OR+defect*%5Bti%5D%29%29 E72.5 3129 64852002 C0268563 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Complexo sarcosina desidrogenase, deficiência do Deficit del complesso sarcosina deidrogenasi Deficiência do complexo sarcosina desidrogenase Déficit del complejo sarcosina deshidrogenasa Déficit en complexe sarcosine déshydrogénase Sarcosine dehydrogenase complex deficiency Sarkosin-Dehydrogenase-Komplex-Mangel Sarcosinemia Sarcosinemia Sarcosinemia Sarcosinemia Sarcosinémie Sarkosinämie hrdo:pat_id_774 274270 D054067 10052622 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=dihydrouracil+dehydrogenase+%28nadp%29/df+OR+%28Dihydropyrimidine+dehydrogenase%5Bti%5D+deficiency%5Bti%5D%29+OR+Pyrimidinemia%5Bti%5D E79.8 1675 77365006 C1959620 disease Familial pyrimidinemia Pirimidinemia familiar Pirimidinemia familiare Pyrimidinämie, familiäre Pyrimidinémie familiale Deficit di diidropirimidina deidrogenasi Deficiência de diidropirimidina desidrogenase Dihydropyrimidin-Dehydrogenase-Mangel Dihydropyrimidine dehydrogenase deficiency Déficit de dihidropirimidina deshidrogenasa Déficit en dihydropyrimidine déshydrogénase hrdo:pat_id_775 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 614723 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=adenine+phosphoribosyltransferase/df%5Bmajr%5D E79.8 976 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 2,8 dihydroxyadenine urolithiasis 2.8-DHA-Urolithiasis APRT deficiency Adenin-Phosphoribosyl-Transferase-Mangel Adenina fosforribosiltransferase, deficiência de Deficit di adenosin fosforibosiltransferasi Deficiência de adenina fosforribosiltransferase Défici en APRT Urolithiase 2,8-dihydroxyadénine Urolitiasis 2,8 dihidroxi-adenina Urolitíase 2,8-diidroxi-adenina 2.8-Dihydroxyadenin-Urolithiasis Adenine phosphoribosyltransferase deficiency Deficit di adenina fosforibosiltrasferasi Déficit de adenosina fosforibosiltransferasa Déficit en adénosine phosphoribosyltransférase Urolitíase 2,8-diidroxiadenina hrdo:pat_id_776 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 245400 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=acidosis%2C+lactic/cn+OR+%28Lactic+acidosis%5Bti%5D+AND+%28congenital%5Bsh%5D+OR+congenital%5Bti%5D%29%29+AND+%28infantile%5Btw%5D+OR+infant%5Bmh%5D%29 E87.2 17 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Laktazidose, infantile kongenitale Acidose lactique infantile fatale avec acidurie méthylmalonique Acidose láctica congénita infantil Acidosi lattica infantile fatale con aciduria metlmalonica Acidosis láctica infantil fatal con aciduria metilmalónica Fatal infantile lactic acidosis with methylmalonic aciduria Mitochondriales DNA-Depletionssyndrom, Typ 9 hrdo:pat_id_779 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 235400 C538266 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Hemolytic+Uremic+%5Bti%5D+OR+Hemolytic+Uremic+Syndrome%5Bmh%5D%29+AND+atypical D58.8 2134 C2931788 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Atypical HUS D-HUS Hemolytic-uremic syndrome without diarrhea Hämolytisch-urämisches Syndrom ohne Diarrhoe (D-HUS) SHU D- SHU atypique SHUa Sindrome emolitico-uremica senza diarrea (D-HUS) Syndrome Hémolytique-urémique sans diarrhée Síndrome hemolítico urémico sin diarrea (SHU D-) aHUS aHUS aHUS aHUS Atypical hemolytic uremic syndrome Hämolytisch-urämisches Syndrom, atypische Form Sindrome emolitico-uremica atipica Syndrome hémolytique et urémique atypique Síndrome hemolítico urémico atípico Síndrome hemolítico urémico, forma atípica hrdo:pat_id_780 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=lymphedema/cn%5Bmh%5D+OR+%28%28hereditary%5Bti%5D+OR+Congenital%5Bti%5D%29+AND+%28lymphedema%5Bti%5D+OR+lymphoedema%5Bti%5D%29%29 Q82.0 2416 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Congenital primary lymphedema Linfedema congénito Linfedema congénito primario Linfedema primitivo congenito Lymphoedème congénital primaire Lymphödem, primäres, kongenitales hrdo:pat_id_782 Variabel Variabile Variable Variable Variable Variable Variável 137280 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=gastritis%2C+hypertrophic%5Bmh%5D+OR+Menetrier%27s+disease%5Bti%5D+OR+hypertrophic+gastritis%5Bti%5D+OR+Menetrier+disease%5Bti%5D K29.6 2494 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Gastrite hipertrófica gigante Gastrite hypertrophique avec hypoprotéinémie Gastrite hypertrophique avec perte de protéines Gastrite hypertrophique géante Gastrite ipertrofica gigante familiare Giant hypertrophic gastritis Hypoproteinemic hypertrophic gastropathy Riesenfaltengastritis Doença de Menetrier Enfermedad de Menetrier Maladie de Ménétrier Malattia di Menetrier Menetrier disease Ménétrier-Syndrom hrdo:pat_id_783 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 260480 602114 613806 C536419 10036732 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22cholangitis%2C+sclerosing%22%5BMH%5D+OR+Sclerosing+cholangitis%5BTi%5D K83.0 171 197441003 C0566602 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 PSC PSC PSC PSC PSC Cholangite sclérosante primitive Colangite esclerosante primária Colangite sclerosante primitiva Colangitis esclerosante primaria Primary sclerosing cholangitis Primäre sklerosierende Cholangitis hrdo:pat_id_784 Variabel Variabile Variable Variable Variable Variable Variável 188030 D016553 10021245 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=purpura%2C+thrombocytopenic%2C+idiopathic%5Bmajr%5D+OR+%28%28autoimmu*%5Bti%5D+OR+idiopat*%5Bti%5D+OR+immune%5Bti%5D%29+thrombocytopenic+purp*%5Bti%5D%29 D69.3 3002 234490009 C0398650 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 ITP ITP ITP ITP Immune thrombocytopenia Immunthrombozytopenie Immunthrombozytopenie, idiopathische PTAI PTI PTI Porpora trombocitopenica autoimmune Purpura thrombopénique auto-immun Púrpura trombocitopénica idiopática Púrpura trombocitopénica, autoinmune Thrombocytopenic purpura, autoimmune Trombocitopenia immune Trombocitopenia inmune Immune thrombocytopenic purpura Porpora trombocitopenica immune Purpura thrombopénique immunologique Purpura, autoimmune thrombozytopenische Púrpura trombocitopénica auto-immune Púrpura trombocitopénica inmune hrdo:pat_id_787 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 233910 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=gtp+cyclohydrolase/df+OR+gtp+cyclohydrolase+defic*%5Btw%5D E70.1 E79.8 2102 23447005 C0268467 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo clinical subtype <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficit di GTPCH Deficiência de GTPCH Déficit en GTPCH GTPCH deficiency GTPCH, deficiência de GTPCH-Mangel Hiperfenilalaninemia por deficiência de GTP cicloidrolase Hyperphenylalaninemia due to GTP cyclohydrolase deficiency Hyperphenylalaninämie mit Tetrahydrobiopterin-Mangel, B Hyperphénylalaninémie par déficit en GTP cyclohydrolase Iperfenilalaninemia da deficit di GTP cicloidrolasi Deficit di GTP cicloidrolasi 1 Deficiência de GTP cicloidrolase I Déficit de GTP-ciclohidrolasa I Déficit en GTP cyclohydrolase I GTP cyclohydrolase I deficiency GTP-Cyclohydrolase I-Mangel hrdo:pat_id_788 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 611775 10023320 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28mucocutaneous+lymph+node+syndrome%5Btw%5D+NOT+Medline%5BSB%5D%29+OR+mucocutaneous+lymph+node+syndrome%5Bmh%5D+OR+Kawasaki+disease%5Bti%5D M30.3 2331 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Mucocutaneous lymph node syndrome Mukokutanes Lymphknotensyndrom Nódulos linfáticos mucocutâneos, síndrome de Sindrome linfo-cutaneo-mucosa Syndrome lympho-cutanéo-muqueux Síndrome de nódulos linfáticos mucocutâneos Síndrome linfo-cutáneo-mucoso Doença de Kawasaki Enfermedad de Kawasaki Kawasaki disease Kawasaki-Krankheit Maladie de Kawasaki Malattia di Kawasaki hrdo:pat_id_789 Variabel Variabile Variable Variable Variable Variable Variável C531849 D008061 10047931 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22whipple+disease%22%5BMeSH+Terms%5D+OR+%28Whipple+disease%5BText+Word%5D+NOT+medline%5Bsb%5D%29 K90.8+ M14.8* 3452 41545003 C0023788 C2930851 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Granulomatose lipofágica intestinal Granulomatose lipophagique intestinale Granulomatosi lipofagica intestinale Intestinal lipodystrophy Intestinal lipophagic granulomatosis Intestinalgranulomatose, lipophage Lipodistrofia intestinal Lipodistrofia intestinale Lipodystrophie intestinale Lipodystrophie, intestinale Morbus Whipple Secondary non-tropical sprue Spru não-tropical secundário Sprue non tropicale secondaria Sprue non-tropicale secondaire Doença de Whipple Enfermedad de Whipple Maladie de Whipple Malattia di Whipple Whipple disease Whipple-Krankheit hrdo:pat_id_790 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D015673 10008874 10057244 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22fatigue+syndrome%2C+chronic%22%5BMeSH+Terms%5D+OR+Chronic+Fatigue+Syndrome%5BTI%5D G93.3 1983 51771007 52702003 C0015674 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Chronic fatigue immune dysfunction syndrome Chronische Erschöpfung - Immundysfunktion Encefalomielite mialgica Encefalomielitis miálgica Encéphalomyélite myalgique Enzephalomyelitis, myalgische Epuisement chronique par dysfonctionnement immunitaire Fadiga crónica - disfunção imune, síndrome de Myalgic encephalomyelitis Sindrome della stanchezza cronica da disfunzione immunitaria Síndrome de fadiga crónica - disfunção imune Chronic fatigue syndrome Chronisches Erschöpfungssyndrom (CFS) Sindrome da stanchezza cronica Syndrome de fatigue chronique Síndrome de fadiga crónica Síndrome de fatiga crónica hrdo:pat_id_791 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 10058321 I67.3 1249 C0270786 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Binswanger disease Binswanger-Krankheit Doença de Binswanger Enfermedad de Binswanger Maladie de Binswanger Malattia di Binswanger hrdo:pat_id_792 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance D003398 10048907 10049889 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%28%22craniosynostoses%22%5BTIAB%5D+OR+craniostenosis%5BText+Word%5D%29+NOT+Medline%5BSB%5D%29+OR+%22craniosynostoses%22%5BMeSH+Terms%5D Q75.0 1531 57219006 C0010278 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Desconhecido Desconocido Esporádica Esporádico Inconnu Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X Sconosciuto Sporadic Sporadic Sporadica Sporadique Sporadisch Unbekannt Unknown Unknown X-chromosomal-rezessiv X-linked recessive X-linked recessive group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Craneosinostosis (término genérico) Craniosinostosi Craniossinostose (termo genérico) Craniosynostose Craniosynostosis Kraniosynostose hrdo:pat_id_793 159700 C535287 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Myoclonic+Cerebellar+Dyssynergia%5Bmajr%5D+OR+dyssynergia+cerebellaris+progres*%5Btw%5D%29+NOT%28herpe*+OR+varicella%29 G11.1 3020 disease Ataxia mioclónica Mioclonia - atassia Myoclonie - ataxie Myoclonus ataxia Myoklonie, Ataxie Ramsay-Hunt syndrome Ramsay-Hunt-Syndrom Sindrome di Ramsay-Hunt Syndrome de Ramsay Hunt Síndrome Ramsay-Hunt Síndrome de Ramsay-Hunt hrdo:pat_id_794 Variabel Variabile Variable Variable Variable Variable Variável 614097 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=acatalasemia%5Bti%5D+OR+acatalasaemia%5Bti%5D+OR+acatalasia%5Bmh%5D E80.3 926 267454002 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Catalase deficiency Catalase, deficiência de Deficiencia de catalasa Deficit di catalasi Deficiência de Catalase Déficit de catalasa Déficit en catalase Katalase-Mangel Acatalasemia Acatalasemia Acatalasemia Acatalassemia Acatalasémie Akatalasämie hrdo:pat_id_795 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 209300 C538259 neant D50.8 1195 111571009 C0521802 C1859593 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Congenital hypotransferrinemia Hypotransferrinémie congénitale Atransferrinemia Atransferrinemia Atransferrinämie Atransferrinémie congénitale Atrasferrinemia Congenital atransferrinemia hrdo:pat_id_796 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 153670 231200 D001606 10057473 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=bernard+soulier+syndrome%5Bmh%5D+OR+Bernard+Soulier+syndrome%5Bti%5D D69.1 274 54569005 C0005129 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Distrofia trombocitica emorragipara Distrofia trombocítica hemorragípara Distrofia trombocítica hemorrágica Dystrophie thrombocytaire hémorragipare Giant platelet syndrome Hemorrhagiparous thrombocytic dystrophy Plaquetas gigantes, síndrome Riesen-Plättchen-Syndrom Sindrome delle piastrine giganti Syndrome des plaquettes sanguines géantes Síndrome plaquetas gigantes Thrombozytendystrophie, hämorrhagische Bernard-Soulier syndrome Bernard-Soulier-Syndrom Sindrome di Bernard-Soulier Syndrome de Bernard-Soulier Síndrome de Bernard-Soulier Síndrome de Bernard-Soulier hrdo:pat_id_797 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável D001994 10064585 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=bronchogenic+cyst%5Bmajr%5D J98.4 Q33.0 2357 9550003 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Bronchogenic cyst Cisti broncogene Kyste bronchogénique Quiste broncogénico Quisto broncogénico Zyste, bronchiale hrdo:pat_id_798 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant Q32.4 2040 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Congenital bronchobiliary fistula Fistel, broncho-biliäre kongenitale Fistola broncobiliare congenita Fistule bronchobiliaire congénitale Fístula bronco-biliar congénita Fístula broncobiliar congénita hrdo:pat_id_8 Bambino / Adolescente Child / adolescent Child / adolescent Criança / Adolescente Enfant / adolescent Kind / Jugendlicher Niño / Adolescentes Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 271900 D017825 10067608 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=canavan+disease%5Bmh%5D+OR+Canavan+disease%5BTi%5D E75.2 141 80544005 C0206307 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown ACY2 deficiency Aminoacylase 2 deficiency Aspartoacilase, deficiência de Aspartoacylase deficiency Aspartoacylase-Mangel Canavan-Syndrom Deficiencia de ACY2 Deficiencia de aminoacilasa 2 Deficiencia de aspartoacilasa Deficit di aspartoacilasi Deficiência de aspartoacilase Degeneración esponjosa del cerebro Degenerazione spongiosa del sistema nervoso centrale Degenerescência espongiforme do sistema nervoso central Déficit de ACY2 Déficit de aminoacilasa 2 Déficit de aspartoacilasa Déficit en ACY2 Déficit en aminoacylase 2 Déficit en aspartoacylase Dégénérescence spongieuse du cerveau Spongy degeneration of the brain ZNS-Degeneration, spongiforme Canavan disease Canavan-Krankheit Doença de Canavan Enfermedad de Canavan Maladie de Canavan Malattia di Canavan hrdo:pat_id_802 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 130710 C535735 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Congenital+lobar+emphysema+OR+Pulmonary+Emphysema/cn%5Bmajr%5D Q33.8 1928 66987001 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Congenital lobar emphysema Emphysem, kongenitales lobäres Emphysème lobaire congénital Enfisema lobar congénito Enfisema lobar congénito Enfisema lobare congenito hrdo:pat_id_8022 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 601144 611777 611875 611876 612838 613119 613120 613123 D053840 10059027 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Brugada+syndrome%5Bti%5D+OR+SCN5A%5Bti%5D I47.2 130 418818005 C1142166 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Bangungut Dream disease Fibrilación ventricular idiopática Fibrilação ventricular idiopática Fibrillation ventriculaire idiopathique type Brugada Fibrillazione ventricolare idiopatica Idiopathic ventricular fibrillation, Brugada type Pokkuri death syndrome SUNDS SUNDS SUNDS SUNDS Sindrome della morte improvvisa notturna di causa sconosciuta Sudden unexplained nocturnal death syndrome Syndrom des plötzlich und unerwartet eintretendenen Herztodes im Schlaf Syndrome de mort subite nocturne inattendu Síndrome de muerte súbita nocturna inexplicada Ventrikelfibrillation, idiopathische Brugada syndrome Brugada-Syndrom Sindrome di Brugada Syndrome de Brugada Síndrome de Brugada Síndrome de Brugada hrdo:pat_id_8023 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 102700 C531816 10066367 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Severe+combined+immunodeficiency+adenosine+deaminase+deficiency D81.3 277 C0392607 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 ADA deficiency ADA, deficiência de Adenosin-Desaminase-Mangel Adenosina desaminase, deficiência de Adenosine deaminase deficiency Deficiencia ADA Deficiencia de adenosina desaminasa Deficit di ADA Deficit di adenosina deaminasi Deficiência de ADA Deficiência de adenosina desaminase Déficit ADA Déficit de adenosina desaminasa Déficit en ADA Déficit en adénosine désaminase Inmunodeficiencia combinada grave por deficiencia de adenosina desaminasa Déficit immunitaire combiné sévère par déficit en adénosine désaminase Immundefekt, kombinierter schwerer, durch Adenosin-Desaminase-Mangel Immunodeficienza combinata grave da deficit di adenosina deaminasi Imunodeficiência combinada grave por deficiência de adenosina desaminase Inmunodeficiencia combinada grave por déficit de adenosina desaminasa Severe combined immunodeficiency due to adenosine deaminase deficiency hrdo:pat_id_8024 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 144600 145750 D006953 10059183 10060753 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hyperlipoproteinemia+type+iv%5Bmajr%5D E78.1 413 238085009 267433009 34528009 C0020480 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Familial hypertriglyceridemia Hiperlipidemia familiar combinada Hiperlipoproteinemia tipo IV Hipertrigliceridemia familiar Hyperlipoprotéinémie type IV Hypertriglyceridämie, familiäre Hypertriglycéridémie endogène familiale Iperlipidemia familiare combinata Ipertrigliceridemia familiare Hiperlipoproteinemia tipo 4 Hiperlipoproteinemia tipo 4 Hyperlipoproteinemia type 4 Hyperlipoproteinämie Typ 4 Hyperlipoprotéinémie type 4 Iperlipoproteinemia, tipo 4 hrdo:pat_id_8025 Variabel Variabile Variable Variable Variable Variable Variável 605019 neant E78.6 426 60193003 disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Familial hypobetalipoproteinemia Hipobetalipoproteinemia familiar Hipobetalipoproteinemia familiar Hypobetalipoproteinämie, familiäre Hypobêtalipoprotéinémie familiale Ipobetalipoproteinemia familiare hrdo:pat_id_8026 266150 D015324 E74.4 3008 87694001 C0034341 disease Deficit di piruvato carbossilasi Deficiência de piruvato carboxilase Déficit de piruvato carboxilasa Déficit en pyruvate carboxylase Pyruvat-Carboxylase-Mangel Pyruvate carboxylase deficiency hrdo:pat_id_8027 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22myopathies%2C+structural%2C+congenital%22%5BMeSH+Terms%3Anoexp%5D+OR+Centronuclear+myopathy%5BTi%5D+OR+myotubular+myopathy%5Bti%5D G71.2 595 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CNM CNM CNM CNM CNM MCN Myopathie, myotubuläre Centronuclear myopathy Miopatia centronuclear Miopatia centronucleare Miopatía centronuclear Myopathie centronucléaire Myopathie, zentronukleäre hrdo:pat_id_8028 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 125850 125851 600496 606391 606392 606394 609812 610508 612225 613370 613375 neant E11.8 552 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown 'Maturity Onset Diabetes of the Young' Diabete giovanile con esordio nella maturità Diabetes juvenil com início tardio Diabète juvénile Maturity Onset Diabetes of the Young MODY syndrome MODY-Syndrom Sindrome MODY Syndrome MODY Síndrome MODY Síndrome MODY hrdo:pat_id_8029 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Variabel Variabile Variable Variable Variable Variable Variável 601004 10036206 neant I81 854 17920008 C0155773 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Hipertensión portal por bloqueo infrahepático Hipertensão portal por obstrução infra-hepática Hypertension portale par bloc infrahépatique Ipertensione portale da blocco intraepatico Ipertensione portale da blocco sottoepatico Portal hypertension due to infrahepatic block Portale Hypertension durch intrahepatischen Block Thrombose de la veine porte Trombose da veia porta Trombosi della vena porta Pfortaderthrombose Portal vein thrombosis Thrombose portale Trombose portal Trombosi della vena portale Trombosis venosa portal hrdo:pat_id_803 D018201 neant C64 2665 11793003 307604008 C1332965 disease Congenital mesoblastic nephroma Nefroma mesoblastico congenito Nefroma mesoblástico congénito Nefroma mesoblástico congénito Nephrom, kongenitales mesoblastisches Néphrome mésoblastique congénital hrdo:pat_id_8030 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 603041 612075 613662 neant E79.8 298 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Encéphalo-myopathie mitochondriale neuro-gastro-intestinale MNGIE MNGIE MNGIE MNGIE MNGIE, síndrome MNGIE-Syndrom Síndrome MNGIE Encefalomiopatia neurogastrointestinale mitocondriale Encefalomiopatía neurogastrointestinal mitocondrial Encéphalopathie myo-neuro-gastrointestinale Enzephalomyopathie, mitochondriale neurogastrointestinale Mitochondrial neurogastrointestinal encephalomyopathy Síndrome de encefalopatia mio-neuro-gastro-intestinal hrdo:pat_id_8031 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Chronic%5Bti%5D+OR+persist*%5Bti%5D+OR+intract*%5Bti%5D+OR+Long+lasting%5Bti%5D%29+hiccup*%5Bti%5D+OR+%28chronic+disease%5Bmh%5D+hiccup%5Bmajr%5D%29 396 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Chronic hiccough Schluckauf, chronischer Chronic hiccup Hipo crónico Hoquet chronique Singhiozzo cronico Singultus, chronischer Soluços crónicos hrdo:pat_id_804 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Herpes+Simplex/cn P35.2 293 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Herpes virus antenatal infection Infection anténatale à l'herpès virus Infecção pré-natal por herpes vírus Infezione prenatale da virus herpes Infeçãopré-natal por herpes vírus Congenital herpes virus infection Herpesvirus-Infektion, kongenitale Infección congénita por el virus del herpes Infection congénitale au virus de l'herpès Infezione congenita da virus herpes Infeção congénita por herpes vírus hrdo:pat_id_805 Normal Normal Normal Normal Normal Normal Normale Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 237500 D007566 10013800 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=chronic+idiopathic+jaundice%5Btw%5D+OR+Dubin+Johnson%5Bti%5D+OR+jaundice%2C+chronic+idiopathic%5Bmh%5D E80.6 234 44553005 C0022350 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Dubin-Sprinz disease Hiperbilirrubinemia tipo 2 Hyperbilirubinemia type 2 Hyperbilirubinämie Typ 2 Hyperbilirubinémie type 2 Iperbilirubinemia, tipo 2 Maladie de Dubin-Sprinz Sprinz-Nelson syndrome Syndrome de Sprinz-Nelson Dubin-Johnson syndrome Dubin-Johnson-Syndrom Sindrome di Dubin-Johnson Syndrome de Dubin-Johnson Síndrome de Dubin-Johnson Síndrome de Dubin-Johnson hrdo:pat_id_806 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 207600 D013625 10043097 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%28%22takayasu%27s+arteritis%22%5BTw%5D+OR+Takayasu+arteritis%5BTW%5D%29+NOT+Medline%5BSB%5D%29+OR+%22takayasu%27s+arteritis%22%5BMH%5D M31.4 3287 239937004 359789008 C0039263 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Arteritis de Takayasu Arterite de Takayasu Arterite di Takayasu Artérite de Takayasu Enfermedad de Takayasu Takayasu arteritis Takayasu-Arteriitis hrdo:pat_id_807 167300 D010145 10033366 10068223 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=paget%27s+disease,+extramammary%5Bmajr%5D C44 2800 232336001 71447003 C0030186 disease Doença de Paget extra-mamária Enfermedad de Paget extramamaria Extramammary Paget disease Maladie de Paget extramammaire Malattia extramammaria di Paget Paget-Syndrom, extramammär hrdo:pat_id_808 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 169610 10052802 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22pemphigus%22%5BMH%5D+OR+Pemphigus+vulgaris%5BTi%5D+OR+Pemphigus+vegetans%5Bti%5D L10.0 704 49420001 C0030809 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Pemphigus profond Pemfigo volgare Pemphigus vulgaire Pemphigus vulgaris Pemphigus vulgaris Pénfigo vulgar Pênfigo vulgar hrdo:pat_id_809 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 137440 D016098 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=gerstmann+straussler+scheinker+disease%5Bmh%5D+OR+Gerstmann+Straussler%5Btw%5D A81.8 356 67155006 C0017495 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Encefalopatia espongiforme sub-aguda, tipo Gerstmann-Straussler Encefalopatia spongiforme subacuta, tipo Gerstmann-Straussler Encéphalopathie spongiforme subaiguë type Gerstmann-Straussler Enzephalopathie, spongiforme subakute, Typ Gerstmann-Sträussler GSS Subacute spongiform encephalopathy, Gerstmann-Straussler type Gerstmann-Straussler-Scheinker syndrome Gerstmann-Sträussler-Scheinker-Syndrom Sindrome di Gerstmann-Straussler-Scheinker Syndrome de Gerstmann-Straussler-Scheinker Síndrome de Gerstmann-Straussler-Scheinker Síndrome de Gerstmann-Straussler-Scheinker hrdo:pat_id_810 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 600072 D034062 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=insomnia%2C+fatal+familial%5Bmh%5D+OR+fatal+familial+insomnia%5Bti%5D+OR+fatal+insomnia%5Bti%5D A81.8 466 83157008 C0206042 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 FFI IFF Fatal familial insomnia Insomnie fatale familiale Insomnie, familiäre fatale Insomnio fatal familiar Insonnia familiare fatale Insónia fatal familiar hrdo:pat_id_812 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 222300 598500 604928 614296 D014929 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=wolfram+syndrome+OR+DIDMOAD+OR+%28optic+atrophy%5Bmajr%5D+AND+diabetes+mellitus%5Bmajr%5D%29 E10.7 H48.0 3463 70694009 C0043207 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 DIDMOAD syndrome DIDMOAD syndrome (Diabète sucré - diabète insipide - atrophie optique - surdité) DIDMOAD, síndrome (Diabetes insipidus - diabetes mellitus - atrofia óptica - surdez) DIDMOAD-Syndrom Diabete mellito - diabete insipido - atrofia ottica - sordità Diabetes Insipidus - Diabetes Mellitus - Optic Atrophy - Deafness Diabetes mellitus - Diabetes insipidus - Optikusatrophie - Schwerhörigkeit Sindrome DIDMOAD Síndrome DIDMOAD Síndrome DIDMOAD (Diabetes insipidus - diabetes mellitus - atrofia ótica - surdez) Sindrome di Wolfram Syndrome de Wolfram Síndrome de Wolfram Síndrome de Wolfram Wolfram syndrome Wolfram-Syndrom hrdo:pat_id_813 Variabel Variabile Variable Variable Variable Variable Variável D003457 10011502 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Cryptosporidiosis%5Bmh%5D+OR+Cryptosporidiosis%5Bti%5D A07.2 1549 240370009 58777003 C0010418 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Cryptosporidium-Infektion Criptosporidiose Criptosporidiosi Criptosporidiosis Cryptosporidiose Cryptosporidiosis Kryptosporidiose hrdo:pat_id_815 Variabel Variabile Variable Variable Variable Variable Variável D007876 D007877 10035718 10061266 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Legionellosis%5Bmajr%5D+OR+Legionellosis%5Bti%5D+OR+legionnaire%27s+disease%5Bti%5D A48.1 549 195889001 26726000 269574000 312403005 C0023240 C0023241 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Doença do Legionário Enfermedad del legionario Legionnaires' disease Legionário, doença do Legionärskrankheit Maladie du légionnaire Legionellose Legionellosi Legionellosis Legionelose Legionelosis Légionellose hrdo:pat_id_816 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 270550 C536787 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Spastic+ataxia+charlevoix+saguenay G11.8 98 C1849140 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown ARSACS ARSACS ARSACS ARSACS Atassia spastica, tipo Charlevoix-Saguenay Ataxia espástica de tipo Charlevoix-Saguenay Ataxia espástica, tipo Charlevoix-Saguenay Ataxie spastique autosomique récessive de Charlevoix-Saguenay Ataxie, spastische, Typ Charlevoix-Saguenay Autosmal recessive spastic ataxia of Charlevoix-Saguenay hrdo:pat_id_817 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 605067 D018785 10049767 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22tricuspid+atresia%22%5BMajr%5D+OR+Tricuspid+atresia%5BTi%5D Q22.4 1209 63042009 C0243002 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Atresia della tricuspide Atresia tricúspide Atresia tricúspide Atrésie tricuspide Tricuspid atresia Trikuspidalatresie hrdo:pat_id_818 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 108800 607941 611363 612794 613087 614089 614433 614475 D006344 10003664 10068864 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=heart+septal+defects%2C+atrial%5Bmajr%5D+OR+Atrial+septal+defect*%5Bti%5D+OR+atrial+heart+septal+defect*%5Bti%5D Q21.1 1478 253366007 405752007 70142008 C0018817 C2609256 morphological anomaly 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 ASD ASD Anomalia del setto atriale (ASD) Anomalie du septum auriculaire Atrial septal defect CIA Difetto del setto atriale (DIA) Communication interauriculaire Comunicación interauricular Comunicação inter-auricular (CIA) Difetto interatriale Interauricular communication Intraatriale Kommunikation hrdo:pat_id_819 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614429 614431 614432 D006345 10047298 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=ventricular+heart+septal+def*%5Bti%5D+OR+Ventricular+septal+def*%5BTi%5D+OR+heart+septal+defects%2C+ventricular%5Bmh%5D Q21.0 1480 30288003 C0018818 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes Anomalie du septum interventriculaire CIV Difetto intraventricolare Interventricular communication Interventrikuläre Kommunikation VSD VSD VSD Communication interventriculaire Comunicación interventricular Comunicação inter-ventricular (CIV) Difetto del setto ventricolare Ventricular septal defect Ventrikelseptumdefekt hrdo:pat_id_820 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 187500 D013771 10016193 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22tetralogy+of+fallot%22%5BMeSH+Terms%5D+OR+Tetralogy+of+Fallot%5BTi%5D+OR+Fallot%27s+Tetralogy%5Bti%5D Q21.3 3303 86299006 C0039685 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel malformation syndrome 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Fallotsche Tetralogie Fallot-Tetralogie Tetralogia de Fallot Tetralogia di Fallot Tetralogy of Fallot Tetralogía de Fallot Tétralogie de Fallot hrdo:pat_id_822 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 202700 257100 612541 613107 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Kostmann+syndrome%5Btw%5D+OR+Kostmann%27s+syndrome%5Btw%5D+OR+infantile+genetic+agranulocytosis%5Btw%5D D70 486 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Kostmann-Syndrom Autosomal dominant severe congenital neutropenia Neutropenia congenita grave, autosomica dominante Neutropenia congénita grave Neutropenia congénita grave, autosómica dominante Neutropenie, kongenitale schwere, autosomal-dominante Neutropénie congénitale sévère autosomique dominante hrdo:pat_id_823 Variabel Variabile Variable Variable Variable Variable Variável 173900 600666 613095 D016891 10036046 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=kidney,+polycystic,+autosomal+dominant%5Bmajr%5D Q61.2 730 28728008 C0085413 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 ADPKD Autosomal dominant polycystic kidney disease Doença renal poliquística tipo dominante Enfermedad del riñón poliquístico, autosómica dominante Nierenkrankheit, polyzystische, autosomal-dominante Polykystose rénale autosomique dominante Rene policistico, autosomico dominante hrdo:pat_id_824 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 108300 184840 C537492 10063402 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Stickler%5Btw%5D+AND+%28%22syndrome%22%5BMeSH+Terms%5D+OR+syndrome%5BTW%5D+OR+%22disease%22%5BMeSH+Terms%5D+OR+disease%5Btw%5D+OR+diseases%5Btw%5D%29 Q87.5 828 78675000 C0265253 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Arthro-Ophthalmopathie, hereditäre progressive Arthro-ophtalmoplégie héréditaire progressive Artro-oftalmopatia hereditária progressiva Artro-oftalmoplegia ereditaria progressiva Hereditary progressive arthroophthalmopathy Sindrome di Stickler Stickler syndrome Stickler-Syndrom Syndrome de Stickler Síndrome de Stickler Síndrome de Stickler hrdo:pat_id_825 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 212895 C535633 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%28cerebellar+ataxia+OR+Spinocerebellar+Degenerations%29+AND+retained+tendon+reflex*%5Btw%5D+NOT+Friedreich+Ataxia%5Bmh%5D%29+OR+eoca%5Btw%5D G11.1 1177 C0393520 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Atassia cerebellare precoce con conservazione dei riflessi tendinei Ataxia cerebelosa de início precoce com reflexos tendinosos preservados Ataxia cerebelosa precoz con conservación de reflejos tendinosos Ataxie cérébelleuse précoce avec conservation des réflexes tendineux Ataxie, zerebelläre, vorzeitige, mit Erhalt der Sehnenreflexe EOCARR Early onset cerebellar ataxia with retained tendon reflex Atassia di Harding Ataxia de Harding Ataxia de Harding Ataxie de Harding Harding ataxia Harding-Ataxie hrdo:pat_id_827 D002819 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=paroxysmal+dystonic+choreoathetosis+OR+nonkinesigenic+dyskinesia*%5Btw%5D+OR+paroxysmal+dyskinesia*%5Btw%5D G24.8 1431 C0752210 group of phenomes Mount-Reback-Syndrom Síndrome de Mount-Reback Coreoatetosis paroxística familiar Discinesias paroxísticas Discinesie parossistiche Dyskinesie, paroxysmale Dyskinésie paroxystique Paroxysmal dyskinesia hrdo:pat_id_828 neant A54.3+ H13.1* 1482 231858009 C0339166 disease Conjunctivitis gonorrhoica Congiuntivite gonococcica Conjonctivite gonococcique Conjuntivite gonocócica Conjuntivitis gonocócica Gonoblennorrhö Gonococcal conjunctivitis hrdo:pat_id_829 234000 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=factor+xii+deficiency%5Bmh%5D+OR+factor+XII+deficiency%5Bti%5D+OR+hageman+factor+deficiency%5Bti%5D D68.2 330 disease Congenital Hageman factor deficiency Deficit congenito del fattore di Hageman Deficiência de fator de Hagemann Déficit congénital en facteur Hageman Déficit congénito de factor Hageman Factor de Hagemann, deficiência de Hageman-Faktor-Mangel, kongenitaler Hageman-Syndrom Congenital factor XII deficiency Deficit congenito del fattore XII Deficiência de fator XII Déficit congénital en facteur XII Déficit congénito de factor XII Faktor XII-Mangel, kongenitaler hrdo:pat_id_830 Variabel Variabile Variable Variable Variable Variable Variável C536591 10053042 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=echinococcosis%2C+pulmonary%5Bmajr%5D+OR+%28alveolar%5Bti%5D+echinococcosis%5Bti%5D%29 B67.5 B67.6 B67.7 284 C0948954 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Alveolar echinococcosis Echinococcose alvéolaire Echinococcosi alveolare Echinokokkose, alveoläre Equinococose alveolar Equinococosis alveolar hrdo:pat_id_831 Variabel Variabile Variable Variable Variable Variable Variável 10053873 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Evans+syndrome%5Btw%5D+OR+%28Anemia%2CHemolytic%2CAutoimmune+AND+Purpura%2CThrombocytopenic%2CIdiopathic%29 D69.3 1959 75331009 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Evans syndrome Evans-Syndrom Sindrome di Evans Syndrome d'Evans Síndrome de Evans Síndrome de Evans hrdo:pat_id_833 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável C535952 10017902 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Eosinophilic%5Bti%5D+AND+%28gastroenteritis+OR+colitis+OR+gastritis%29 K52.8 2070 359804008 C1262481 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 EGE Eosinophilic gastroenteritis Gastro-entérite éosinophilique Gastroenterite eosinofila Gastroenterite eosinofílica Gastroenteritis eosinofílica Gastroenteritis, eosinophile hrdo:pat_id_834 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável D020275 10018767 neant G61.0 2103 40956001 C0018378 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 GBS GBS GBS GBS Guillain-Barre syndrome Guillain-Barré-Strohl syndrome Guillain-Barré-Strohl-Syndrom SGB SGB Sindrome di Guillain-Barre Sindrome di Guillain-Barré-Strohl Syndrome de Guillain-Barré-Strohl Síndrome de Guillain-Barré-Strohl Guillain-Barré syndrome Guillain-Barré-Syndrom Sindrome di Guillain-Barré Syndrome de Guillain-Barré Síndrome de Guillain-Barré Síndrome de Guillain-Barré hrdo:pat_id_836 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter D018197 10062001 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Hepatoblastoma%5Bmh%5D+OR+Hepatoblastoma%5Bti%5D C22.2 449 109843000 45024009 C0206624 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Epatoblastoma Hepatoblastom Hepatoblastoma Hepatoblastoma Hepatoblastoma Hépatoblastome hrdo:pat_id_837 236500 605013 D006832 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hydranencephaly%5Bmh%5D+OR+Hydranencephaly%5Bti%5D Q04.3 2177 30023002 C0020225 malformation syndrome Hidranencefalia Hidranencefalia Hydranencephaly Hydranencéphalie Hydranenzephalie Idranencefalia hrdo:pat_id_838 237900 308600 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Hyperbilirubinemia%5Bti%5D+neonatal%5Bti%5D+OR+jaundice+neonatal%29+%28breast+milk+OR+breast+feeding%29 P59.3 P59.8 2312 disease Lucey-Driscoll syndrome Lucey-Driscoll, síndrome de Sindrome di Lucey-Driscoll Syndrome de Lucey-Driscoll Síndrome de Lucey-Driscoll Síndrome de Lucey-Driscoll Hiperbilirrubinemia neonatal transitoria Hiperbilirrubinemia transitória neonatal familiar Hyperbilirubinämie, familiäre transiente, des Neugeborenenen Ittero iperbilirubinemico neonatale transitorio Jaunisse hyperbilirubinémique néonatale transitoire Transient familial neonatal hyperbilirubinemia hrdo:pat_id_839 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 147060 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22job%27s+syndrome%22%5BMH%5D+OR+Job+syndrome%5BTi%5D D82.4 2314 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 AD-HIES AD-HIES AD-HIES AD-HIES AD-HIES Autosomal dominant HIES Autosomal dominant hyperimmunoglobulin E syndrome Buckley syndrome Buckley, síndrome de Buckley-Syndrom HIES autosomique dominant HIES autosómico dominante HIES, autosomica dominante Hiperimunoglobulinemia E Hiperimunoglobulinemia E - infecções recorrentes, síndrome de Hyperimmunoglobulin E syndrome type 1 Hyperimmunoglobulin E-recurrent infection syndrome Hyperimmunoglobulinämie E -Infektions-Syndrom, rekurrentes Hyperimmunoglobulinämie E-Syndrom Typ 1 Hyperimmunoglobulinämie E-Syndrom, autosomal-dominantes Hyperimmunoglobulinémie E autosomique dominante Job (Hiob)-Syndrom Job syndrome Sindrome da iperimmunoglobulinemia E, autosomica dominante Sindrome da iperimmunoglobulinemia E, tipo 1 Sindrome di Buckley Sindrome di Job Sindrome iperimmunoglobulinemia E-infezioni ricorrenti Syndrome d'hyperimmunoglobuline E type 1 Syndrome d'hyperimmunoglobuline-infection récurrente Syndrome de Buckley Syndrome de Job Síndrome de Buckley Síndrome de Buckley Síndrome de Job Síndrome de hiperimunoglobulinemia E - infeções recorrentes Síndrome de hiperinmunoglobulina E autosómico dominante Síndrome de hiperinmunoglobulina E con infección recurrente Síndrome de hiperinmunoglobulina E tipo 1 Síndrome de infección recurrente-hiperinmunoglobulina E Autosomal dominant hyper IgE syndrome Hyper IgE syndrome autosomique dominant Hyper-IgE-Syndrom, autosomal-dominantes Sindrome da iper-IgE, autosomica dominante Síndrome de Job Síndrome de hiper-IgE autosómico dominante hrdo:pat_id_840 10023885 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Laryngocele%5Bti%5D Q31.3 2372 51523009 C0265761 malformation syndrome Laringocele Laringocele Laringocelo Laryngocele Laryngocèle Laryngozele hrdo:pat_id_841 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 150600 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Legg+Calve+Perthes%5Bti%5D+OR+legg+perthes+disease%5Bmh%5D M91.1 2380 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Aseptic necrosis of the capital femoral epiphysis Aseptische Femurkopfnekrose Enfermedad de Perthes Maladie de Perthes Malattia di Perthes Necrosi asettica dell'epifisi capitale del femore Necrosis aséptica de la epífisis capital femoral Osteochondritis der Femurkopfepiphyse Osteochondritis of the capital femoral epiphysis Osteochondrose der Hüftkopfepiphyse Osteochondrosis of the capital femoral epiphysis Osteocondrite deformante Osteocondrite dell'epifisi femorale capitale Osteocondritis aséptica de la epífisis capital femoral Osteocondrosi dell'epifisi femorale capitale Osteocondrosis aséptica de la epífisis capital femoral Ostéochondrite des épiphyses fémorales Ostéochondrite primitive de hanche Perthes disease Perthes-Calvé-Legg-Krankheit Doença de Legg-Calve-Perthes Enfermedad de Legg-Calvé-Perthes Legg-Calvé-Perthes disease Legg-Calvé-Perthes-Krankheit Maladie de Legg-Calvé-Perthes Malattia di Legg-Calvé-Perthes hrdo:pat_id_842 Variabel Variabile Variable Variable Variable Variable Variável D008088 10024641 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Listeriosis%5Bti%5D+OR+listeria+infections%5Bmh%5D A32 533 4241002 C0023860 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Listeriose Listeriose Listeriosi Listeriosis Listeriosis Listériose hrdo:pat_id_844 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter C537162 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=pancreatoblastoma+AND+%28infantile+OR+infant+OR+child+OR+adolescent+OR+pediatric%29 C25.1 677 53618008 C0334489 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Pancreatoblastoma Pancreatoblastoma Pancreatoblastoma Pancreatoblastoma Pancréatoblastome Pankreasblastom hrdo:pat_id_845 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Bell+Palsy%5Bmh%5D+OR+Bell%27s+palsy%5Bti%5D+OR+bell+palsy%5Bti%5D G51.0 2810 disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Bell's palsy Bell-Lähmung Paralisi di Bell Paralisia de Bell Paralysie de Bell Parálisis de Bell Gesichtslähmung, idiopathische Idiopathic facial palsy Paralisi facciale idiopatica Paralisia facial idiopática Paralysie faciale idiopathique Parálisis facial idiopática hrdo:pat_id_846 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 260540 601104 609454 610898 D013494 10036813 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=supranuclear+palsy%2C+progressive%5Bmh%5D+OR+progressive+supranuclear+palsy%5Bti%5D+OR+Steele+Richardson+Olszewski%5Bti%5D G23.1 683 28978003 C0038868 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Doença de Steele-Richardson-Olszewski PSP PSP PSP PSP PSP PSP Richardson's-Syndrom Richardson-Syndrom Steele-Richardson-Olszewski, doença de Steele-Richardson-Olszewski-Syndrom Paralisi sopranucleare progressiva Paralysie supranucléaire progressive Parálisis supranuclear progresiva Parésia supranuclear progressiva Progressive supranuclear palsy Progressive supranukleäre Blickparese hrdo:pat_id_848 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 174900 175050 612242 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Juvenile%5Bti%5D+OR+infant*%5Bti%5D+OR+adolescent%5Bti%5D+OR+child*%5Bti%5D%29+AND+%28gastrointestinal+polyposis%5Btw%5D+OR+intestinal+polyposis%29 D12.6 2929 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown JIP JIP JPS JPS Juvenile gastrointestinal polyposis Juvenile intestinal polyposis Juvenile intestinale Polypose (JIP) Juveniles Polyposis-Syndrom (JPS) PIJ Polipose intestinal juvenil (JIP) Polipose juvenil, síndrome (JPS) Poliposi intestinale giovanile Poliposis gastrointestinal juvenil (JIP) Polypose gastrointestinale juvénile Polypose intestinale juvénile Sindrome della poliposi giovanile (JPS) Síndrome de poliposis gastrointestinal juvenil (JIPS) Síndrome polipose juvenil (JPS) Juvenile polyposis syndrome Polipose gastro-intestinal juvenil Poliposi gastrointestinale giovanile Poliposis gastrointestinal juvenil Polyposis, gastrointestinale juvenile Syndrome de polypose juvénile hrdo:pat_id_849 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 184850 10042044 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=stiff+person+syndrome%5Bti%5D+OR+Stiff+man+syndrome%5Bti%5D+OR+stiff+person+syndrome%5Bmh%5D G25.8 3198 5217008 disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 'Sindrome ''stiff man''' Moersch-Woltman syndrome SPS SPS SPS SPS Sindrome dell'uomo rigido Sindrome di Moersch-Woltman Stiff-man syndrome Stiff-person-Syndrom Syndrome de Moersch-Woltman Síndrome de Moersch-Woltman Síndrome del hombre rígido Sindrome della persona rigida Stiff person syndrome Stiff-man-Syndrom Syndrome de l'homme raide Síndrome de coluna rígida Síndrome de la persona rígida hrdo:pat_id_850 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 155100 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=May+Hegglin%5Btw%5D D69.4 850 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown May-Hegglin thrombocytopenia Thrombopénie de May-Hegglin Thrombozytopenie May-Hegglin Trombocitopenia de May-Hegglin Trombocitopenia de May-Hegglin Trombocitopenia di May-Hegglin hrdo:pat_id_851 140300 C535842 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=thyroiditis,autoimmune%5Bmajr%5D+AND+hashimoto%5Btw%5D E06.3 855 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hashimoto hypothyroidism Hashimoto thyroiditis Hashimoto-Struma Hipotiroidismo de Hashimoto Hypothyroidie de Hashimoto Ipotiroidismo di Hashimoto Tiroidite di Hashimoto Tiroiditis de Hashimoto Estruma de Hashimoto Hashimoto struma Hashimoto-Thyreoiditis Struma di Hashimoto Thyroïdite de Hashimoto Tiroidite de Hashimoto hrdo:pat_id_852 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 194070 194071 194090 601363 601583 D009396 10029145 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22nephroblastoma%22%5BMeSH+Terms%3Anoexp%5D+OR+%28nephroblastoma%5BText+Word%5D+NOT+medline%5Bsb%5D%29 C64 654 25081006 302849000 C0027708 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Nierentumor, embryonaler Renal embryonic tumor Tumeur de Wilms Tumeur embryonnaire rénale Tumor de Wilms Tumor de Wilms Tumor renal embrionario Tumore di Wilms Tumore embrionale del rene Wilms Tumor Wilms tumor Nefroblastoma Nefroblastoma Nefroblastoma Nephroblastom Nephroblastoma Néphroblastome hrdo:pat_id_8529 Variabel Variabile Variable Variable Variable Variable Variável D011778 10037688 10037731 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Q+Fever%5Bti%5D+OR+Q+Fever%5Bmajr%5D A78 781 186788009 68981009 C0034362 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Febbre Q Febre Q Fièvre Q Q fever Q-Fieber Rickettsiosis hrdo:pat_id_853 Variabel Variabile Variable Variable Variable Variable Variável D052556 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=npc1*[ti]+OR+npc2*[ti]+OR+niemann+pick+C*[tw]+OR+niemann+pick+d[tw]+OR+%28niemann+pick[ti]+%28type+d*[tw]+OR+type+c*[tw]%29%29 E75.2 646 66751000 C0220756 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Doença de Niemann-Pick C Enfermedad de Niemann-Pick tipo C Maladie de Niemann-Pick type C Malattia di Niemann-Pick, tipo C Niemann-Pick disease type C Niemann-Pick-Krankheit Typ C hrdo:pat_id_8530 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável D004675 10043848 neant A84 297 414093008 415821008 C0014061 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Dermacentor-transmis(borne) - nécrose - érythème - lymphadénopathie (DEBONEL) FMSE Zeckenenzephalitis Encefalite da zecche Encefalite por picada de pulgas Encefalitis de las garrapatas Encéphalite à tiques Frühsommer-Meningoenzephalitis Tick-borne encephalitis hrdo:pat_id_8531 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 226400 305350 D004819 10052339 neant B07 302 19138001 C0014522 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dysplasie Lewandowsky-Lutz Epidermodisplasia verruciforme de Lutz-Lewandowsky Epidermodisplasia verruciforme di Lutz-Lewandowsky Epidermodysplasia verruciformis Epidermodysplasie verruciforme de Lutz-Lewandowsky Lewandowsky-Lutz syndrome Lewandowsky-Lutz-Syndrom Lutz-Lewandowsky epidermodysplasia verruciformis Sindrome di Lewandowsky-Lutz Syndrome de Lewandowsky-Lutz Síndrome de Lewandowsky-Lutz Epidermodisplasia verruciforme Epidermodisplasia verruciforme Epidermodisplasia verruciformis de Lutz-Lewandowsky Epidermodysplasia verruciformis Epidermodysplasia verruciformis Epidermodysplasie verruciforme hrdo:pat_id_8535 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável neant B60.1 B60.2 68 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Amebiasi con amebe libere Amebiasis por amebas salvajes Amebiose por amebas livres (parasitas não obrigatórios) Amibiase à amibes libres Amoebiasis due to free-living amoebae Amöbiasis durch frei vorkommende Amöben hrdo:pat_id_8536 C536369 10069517 neant B81.3 B83.2 74 61750000 C0392662 disease Angiostrongiliose Angiostrongilosi Angiostrongilosis Angiostrongyliasis Angiostrongylose Angiostrongylose hrdo:pat_id_8537 Variabel Variabile Variable Variable Variable Variable Variável D013322 10042254 B78 76 1214006 C0038463 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Anguilluliasi Anguilluliasis Anguillulosi Anguillulosis Anguiluliasis Anguilulosis Strongyloidiasis Strongyloïdiase Strongyloïdose Zwergfadenwürmer-Befall Anguillulose Anguilulose Estrongiloidiasis Strongiloidiasi Strongyloidiasis Strongyloidose hrdo:pat_id_8538 Variabel Variabile Variable Variable Variable Variable Variável D000724 D006725 10002255 10020376 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Ankylostomiasis%5Bti%5D+OR+ancylostomiasis%5Bti%5D+OR+hookworm+infections%5Bmajr%5D B76 78 105694003 63479002 C0002831 C0019911 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Ancilostomiasis Ancylostomiase Ancylostomiasis Ankylostomose Hakenwurm-Infektion Hookworms infection Infección por uncinarias Infecção por vermes com ganchos Infezione da anchilostomi Infeção por vermes com ganchos Anchilostomiasi Ancilostomiose Ankylostomiase Ankylostomiasis Ankylostomiasis Anquilostomiasis hrdo:pat_id_8539 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D001404 10003965 B60.0 108 21061004 C0004576 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Babesiose Babesiose Babesiosi Babesiosis Babesiosis Babésiose hrdo:pat_id_854 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 600880 D006502 10006537 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hepatic+vein+thrombosis%5Btiab%5D+OR+hepatic+vein+thrombosis%5Bmh%5D+OR+budd-chiari+syndrome%5Btiab%5D I82.0 131 82385007 C0856761 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Budd-Chiari syndrome Budd-Chiari-Syndrom Sindrome di Budd-Chiari Syndrome de Budd-Chiari Síndrome de Budd-Chiari Síndrome de Budd-Chiari hrdo:pat_id_8540 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável neant B70.0 128 29061002 C0277032 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Bothriocephalosis Bothriocéphalose Bothriozephalosis Botriocefalosi Botriocefalosis Botriocefalose Difillobotriasi Difilobotriasis Diphyllobothriasis Diphyllobothriasis Diphyllobothriose hrdo:pat_id_8541 D002862 10008803 neant B43 182 187079000 C0008582 disease Chromoblastomycose Chromoblastomycosis Chromoblastomykose Cromoblastomicosi Cromoblastomicosis Chromomycose Chromomycosis Chromomykose Cromomicose Cromomicosi Cromomicosis hrdo:pat_id_8542 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável neant A07.3 210 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Ciclosporose Ciclosporosi Ciclosporosis Cyclosporose Cyclosporosis Zyklosporiasis hrdo:pat_id_8543 neant B88.0 283 disease Demodicidosis Demodicosis Démodicidose Démodécidose Demodecia Demodicidosis Demodicidosis Demodikose Dermodicidose Démodécie hrdo:pat_id_8544 D006660 10020141 10021808 B39 390 12962009 76255006 C0019655 C0153261 disease Darling's disease Darling-Krankheit Enfermedad de Darling Maladie de Darling Malattia di Darling Histoplasmose Histoplasmose Histoplasmose Histoplasmosis Histoplasmosis Istoplasmosi hrdo:pat_id_8545 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D004443 10014096 B67 400 74942003 C0013502 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hidatidose Hidatidosis Hydatidose Hydatidose Hydatidosis Idatidosi hrdo:pat_id_8546 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter D006925 10020546 B71.0 401 44917000 C0020413 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Himenolepiasis Himenolepiose Hymenolepiasis Hymenolepiasis Hyménolépiose Imenolepiasi hrdo:pat_id_8547 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter D007000 neant B87.0 430 240879002 C0020607 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hipodermiose Hipodermosis Hypodermose Hypodermyasis Hypodermyiasis Ipodermosi hrdo:pat_id_8548 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável D021865 10023076 A07.3 472 371423007 C0311386 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Isosporose Isosporiasis Isosporiasis Isosporiose Isosporose Isosporosi Isosporosis hrdo:pat_id_8549 D007815 10059547 neant B87.0 504 19362000 240854000 278041003 417441005 C0546999 C1562462 disease Cutaneous larva migrans Doença arrepiante Hautlarve, kutane Larva migrans cutanea Larva migrante cutanea Miasi migratoria Migratory myiasis Myiase cutanée linéaire rampante Myiasis, migratorische Creeping myiasis Kriechkrankheit Larva migrans cutânea Miasi serpiginosa Miasis progresiva Myiase ambulatoire hrdo:pat_id_8550 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável neant B87.0 591 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Furunculoid myiasis Furunculous myiasis Myiase furonculeuse Furuncular myiasis Furunkuloide Myiasis Miasi foruncolosa Miasis forunculosa Miiose furunculosa Myiase furonculoïde hrdo:pat_id_8551 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge neant B59+ 723 88860002 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Neumocistosis Pneumocistose Pneumocitosi Pneumocystis-carinii-Pneumonie Pneumocystose Pneumocystosis hrdo:pat_id_8552 Normal Normal Normal Normal Normal Normal Normale D013174 10041736 B42 826 42094007 C0038034 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Esporotricose Esporotricosis Sporotrichose Sporotrichose Sporotrichosis Sporotricosi hrdo:pat_id_8553 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável D058285 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Tungiasis%5Bti%5D+OR+%28Ectoparasitic+Infestations%5Bmh%5D+tungiasis%29 B88.1 879 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Tungiasis Tungiasis Tungiose Tungose Tungosi Tungosis hrdo:pat_id_8554 Normal Normal Normal Normal Normal Normal Normale Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis neant E88.2 529 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Lipomatose mesossomatosa de Roch-Leri Lipomatose mésosomatique de Roch-Leri Lipomatose, mesosomatische, Typ Roch-Leri Lipomatosi mesosomatica di Roch-Leri Lipomatosis mesosomática de Roch-Leri Roch-Leri mesosomatous lipomatosis hrdo:pat_id_8555 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 10028933 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28diabetes+mellitus%5Bmh%5D+OR+diabetes+mellitus%5Btiab%5D%29+%28neonatal+diabetes%5Btiab%5D+OR+neonatal+diabetes%5Btw%5D%29 P70.2 224 49817004 C0158981 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown NDM NDM NDM NDM NDM Diabete mellito neonatale Diabetes mellitus neonatal Diabetes mellitus neonatal Diabetes mellitus, neonataler Diabète néonatal Neonatal diabetes mellitus hrdo:pat_id_8556 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 208530 270100 306955 601086 605376 606325 613751 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Heterotax*%5Bti%5D+OR+situs+inversus%5Bmajr%5D+OR+right+isomerism%5Bti%5D+OR+left+isomerism%5Bti%5D+OR+lateralization+defect*%5Bti%5D Q89.3 450 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Defecto de lateralidad Defeito da lateralização Difetto di lateralizzazione Défaut de latéralisation Eterotassia viscerale Heterotaxie, viszerale Heterotaxie-Syndrom Heterotaxy syndrome Hétérotaxie viscérale Lateralisationsdefekt Lateralization defect Sindrome eterotassica Syndrome d'hétérotaxie Visceral heterotaxy Eterotassia Heterotaxia Heterotaxia Heterotaxia Heterotaxie Hétérotaxie hrdo:pat_id_8559 Variabel Variabile Variable Variable Variable Variable Variável 612376 D015473 10001019 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Leukemia%2C+Promyelocytic%2C+Acute%5Bmh%5D+OR+acute+myeloid+leukemia%5Bti%5D+%28M3%5Btw%5D+OR+AML+M3%5Btw%5D+OR+FAB+M3%5Btw%5D%29 C92.4 520 28950004 C0023487 disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 'Leukämie, akute myeloische, t(15;17)(q22;q12);(PML/RARalpha) und Varianten' Acute myeloblastic leukemia type 3 Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants Leucemia aguda mieloblástica tipo 3 Leucemia aguda mieloide con t(15;17)(q22;q12);(PML/RARalpha) y variantes Leucemia mieloblastica acuta, tipo 3 Leucemia mieloblástica aguda tipo 3 Leucemia mieloide acuta con t(15;17) (q22;q12); (PML/RARalpha) e varianti Leucémie aiguë myéloblastique type 3 Leucémie aiguë myéloïde avec t(15;17)(q22;q12);(PML/RARalpha) et variants Leukämie, akute myeloische, Typ 3 Acute promyelocytic leukemia Leucemia aguda promielocítica Leucemia promielocitica acuta Leucemia promielocítica aguda Leucémie aiguë promyélocytaire Promyelozytenleukämie, akute hrdo:pat_id_8560 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 602439 D015479 10000890 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Leukemia%2C+Myelomonocytic%2C+Acute+OR+acute+myeloid+leukemia%5Bti%5D+%28M4%5Btw%5D+OR+AML+M4%5Btw%5D+OR+FAB+M4%5Btw%5D%29 C92.5 517 30962008 C0023479 disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Leucemia acuta mieloblastica, tipo 4 Leucemia mieloblástica aguda tipo 4 Leucémie aiguë myéloblastique type 4 Leukämie, akute myeloische, Typ 4 Acute myelomonocytic leukemia Akute Myelomonozytenleukämie Leucemia acuta mielomonocitica Leucemia aguda mielomonocítica Leucemia mielomonocítica aguda Leucémie aiguë myélomonocytaire hrdo:pat_id_8561 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 151380 D007948 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Leukemia%2C+Monocytic%2C+Acute+OR+acute+myeloid+leukemia%5Bti%5D+%28M5%5Btw%5D+OR+AML+M5%5Btw%5D+OR+FAB+M5%5Btw%5D%29 C92.7 514 277601005 278170009 413441006 C0457334 C1318544 disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 AML-M5 AML-M5 AML-M5 AML-M5 AML-M5 Acute monocytic leukemia Acute myeloblastic leukemia type 5 Leucemia acuta mieloblastica, tipo 5 Leucemia mieloblastica acuta, tipo 5 Leucemia mieloblástica aguda tipo 5 Leucemia mieloblástica aguda tipo 5 Leucemia monocitica acuta Leucemia monocítica aguda Leucémie aiguë myéloblastique type 5 Leukämie, akute monozytäre Leukämie, akute myeloische, Typ 5 Acute monoblastic leukemia Leucemia monoblastica acuta Leucemia monoblástica aguda Leucemia monoblástica aguda Leucémie aiguë monoblastique Leukämie, akute monoblastische hrdo:pat_id_8562 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 133180 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Acute+erythroblastic+leukemia%5Bti%5D+OR+Acute+erythroblastic+leukemia%5Bmajr%5D%29+%28humans+OR+patient+OR+patients%29 C94.0 318 disease AML-M6 AML-M6 AML-M6 Acute myeloblastic leukemia type 6 Eritroleucemia Erythroleucémie Erythroleukemia LAM6 Leucemia acuta mieloblastica, tipo 6 Leucemia mieloblástica aguda tipo 6 Leucemia mieloblástica aguda tipo 6 Leucémie aiguë myéloblastique type 6 Leukämie, akute myeloische, Typ 6 Acute erythroid leukemia Akute Erythroleukämie Eritroleucemia Leucemia eritroblástica aguda Leucemia eritroide aguda Leucémie érythroblastique hrdo:pat_id_8563 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=acute%5Bti%5D+%28megakaryo*%5Bti%5DOR+megacaryo*%5Bti%5D%29+%28leukemia%5Bti%5D+OR+leukaemia%5Bti%5D%29+OR+leukemia%2C+megakaryocytic%2C+acute%5Bmh%5D C94.2 518 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 AMKL AMKL Acute myeloblastic leukemia type 7 Leucemia acuta mieloblastica, tipo 7 Leucemia mieloblástica aguda tipo 7 Leucémie aiguë myéloblastique type 7 Leukämie, akute myeloische, Typ 7 Acute megakaryoblastic leukemia Akute Megakaryoblastenleukämie Leucemia acuta megacarioblastica Leucemia aguda megacarioblástica Leucemia megacarioblástica aguda Leucémie aiguë mégacaryoblastique hrdo:pat_id_8564 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 143200 C536075 10063383 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Wagner%5Bti%5D+OR+Wagner%27s%5Bti%5D+OR+erosive+vitreoretin*%5Bti%5D+OR+hyaloideoretinal%5Bti%5D%29+Retinal+Diseases H35.5 898 232064001 C0339540 C1840452 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Degeneración vitreorretiniana de Wagner Degeneration, vitreoretinale, Typ Wagner Degenerazione vitreoretinica di Wagner Degenerescência vitreo-retiniana Distrofia dominante hialoideo-retiniana de Wagner Distrofia ialoidoretinica di Wagner Dominant hyaloideoretinal dystrophy of Wagner Dystrophie hyaloidéorétinienne dominante de Wagner Dégénérescence vitréo-rétinienne de Wagner Sindrome di Wagner Syndrome de Wagner Síndrome de Wagner VCAN-related vitreoretinopathy Vitreoretinal degeneration, Wagner type Vitreoretinopathie, VCAN-abhängige Vitreoretinopatia legata a VCAN Vitreorretinopatía relacionada con VCAN Vitréorétinopathie liée à VCAN Wagner syndrome Wagner-Syndrom Doença de Wagner Enfermedad de Wagner Maladie de Wagner Malattia di Wagner Wagner disease Wagner-Krankheit hrdo:pat_id_8566 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 262000 C537633 neant 123 67817003 C0266006 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deafness - pili torti - hypogonadism Surdité - pili torti - hypogonadisme Björnstad syndrome Björnstadt-Syndrom Sindrome di Björnstad Syndrome de Björnstad Síndrome de Björnstadt Síndrome de Björnstadt hrdo:pat_id_8567 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta C531609 neant L66.0 129 238731001 C0086873 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Pseudo-pelada de Brocq Pseudo-pelade de Brocq Pseudo-pelade of Brocq Pseudoalopecia aerata di Brocq Pseudopelada de Brocq Pseudopelade Brocq hrdo:pat_id_8568 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 260910 10056961 neant L08.8 345 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cellulite disseccante del cuoio capelluto Cellulite disséquante du cuir chevelu Celulitis disecante de cuero cabelludo Celulite dissecante do couro cabeludo Dissecting cellulitis of the scalp Foliculitis disecante de cuero cabelludo Follicolite dissecante del cuoio capelluto Folliculite disséquante du cuir chevelu Zellulitis, dissizierende der Kopfhaut hrdo:pat_id_8569 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 600628 D058247 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=%22Loose+anagen%22 L65.1 168 238735005 C0406468 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Coloboma - anomalie dei capelli Coloboma - hair abnormality Colobome - cheveux anormaux Kolobom - Haaranomalien Loose anagen syndrome Maladie des cheveux anagènes caducs Sindrome dei capelli caduchi in anagen Syndrom der leicht epilierbaren Anagenhaare Síndrome de los cabellos anágenos caducos Síndrome de queda na fase de anagene do cabelo hrdo:pat_id_857 254600 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Myeloperoxidase+deficiency%5Btw%5D+OR+myeloperoxidase%5Btw%5D+peroxidase/df E80.3 2587 129644003 234433009 C0398595 disease Deficit di MPO Deficiência de MPO Déficit de MPO Déficit en MPO MPO deficiency MPO, deficiência de MPO-Mangel Deficit di mieloperossidasi Deficiência de mieloperoxidase Déficit de mieloperoxidasa Déficit en myélopéroxydase Myeloperoxidase deficiency Myeloperoxidase-Mangel hrdo:pat_id_8570 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 180600 C537187 Q84.1 169 21926007 C0263489 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Peli anulati Pili annulati Pili annulati Pili annulati Pili annulati 'Beringte' Haarkrankheit Enfermedad del cabello ensortijado Maladie des cheveux annelés Malattia dei capelli ad anello Ringed hair disease Síndrome cabelo anelar hrdo:pat_id_8571 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 194300 278150 C536745 10048017 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Woolly+hair%5Btw%5D+%28hair+diseases%5Bmajr%5D+OR+hair/ab%29+NOT%28palmoplant*+OR+keratosis%29 Q84.1 170 254231002 52564001 C0343073 C0345427 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Familial woolly hair syndrome Familial wooly hair syndrome Hereditary woolly hair syndrome Hereditary wooly hair syndrome Sindrome ereditaria dei capelli lanosi Sindrome familiare dei capelli lanosi Syndrome des cheveux laineux familial Syndrome des cheveux laineux héréditaire Síndrome de pelo lanoso familiar Síndrome de pelo lanoso hereditario Wollhaar-Syndrom, familiäres Wooly hair Cabelo lanoso Capelli lanosi Cheveux laineux Pelo lanoso Wollhaare Woolly hair hrdo:pat_id_8572 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=deafness+alopecia+Crandall 202 278098005 C0432348 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Alopecia - deafness - hypogonadism Alopécie - surdité - hypogonadisme Crandall syndrome Crandall-Syndrom Sindrome di Crandall Syndrome de Crandall Síndrome de Crandall Síndrome de Crandall hrdo:pat_id_8573 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 222 238733003 C0406464 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Dermatose pustular erosiva do couro cabeludo Dermatose pustuleuse érosive du cuir chevelu Dermatose, erosive pustulöse der Kopfhaut Dermatosi pustolosa erosiva del cuoio capelluto Dermatosis pustulosa erosiva de cuero cabelludo Erosive pustular dermatosis of the scalp hrdo:pat_id_8574 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant L66.2 346 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Foliculitis depilante de Quinquaud Follicolite depilante di Quinquaud Folliculite épilante de Quinquaud Foliculite decalvans de Quinquaud Foliculitis decalvante de Quinquaud Follicolite decalvante di Quinquaud Folliculite décalvante de Quinquaud Folliculitis decalvans Quinquaud Quinquaud's folliculitis decalvans hrdo:pat_id_8575 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Graham%5Btw%5D+AND+Little%5Btw%5D+AND+syndrome%5Ball%5D L66.1 505 clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Graham Little syndrome Picardi-Lassueur-Little, síndrome de Picardi-Lassueur-Little-Syndrom Piccardi-Lassueur-Little syndrome Sindrome di Graham Little Sindrome di Picardi-Lassueur-Little Syndrome de Graham Little Syndrome de Piccardi-Lassueur-Little Síndrome de Graham Little Síndrome de Picardi-Lassueur-Little Síndrome de Piccardi-Lassueur-Little Graham Little-Piccardi-Lassueur syndrome Graham Little-Piccardi-Lassueur-Syndrom Sindrome di Graham Little-Piccardi-Lassueur Syndrome de Graham Little-Piccardi-Lassueur Síndrome de Graham Little-Piccardi-Lassueur Síndrome de Lassueur-Graham-Little hrdo:pat_id_8576 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta L68.1 2221 25967007 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acquired hypertrichosis lanuginosa Hipertricose lanuginosa adquirida Hipertricosis lanuginosa adquirida Hypertrichose lanugineuse acquise Hypertrichosis lanuginosa, erworbene Ipertricosi lanuginosa acquisita hrdo:pat_id_8577 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 146550 612841 C535912 neant Q84.0 444 C2931059 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Hipotricosis congénita de Marie Unna Hipotricosis, tipo Marie Unna Hypotrichose congénitale de Marie Unna Hypotrichose type Marie Unna Hypotrichosis, Marie Unna type MUHH MUHH MUHH Marie Unna congenital hypotrichosis Hipotricose congénita de Marie-Unna Hipotricosis hereditaria de Marie Unna Hypotrichose héréditaire de Marie Unna Hypotrichose, hereditäre kongenitale, Typ Marie Unna Ipotricosi ereditaria di Marie Unna Marie Unna hereditary hypotrichosis hrdo:pat_id_8578 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável C536165 B35.0 499 C0276742 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Trichophytie, tiefe Kerion Celsi Kerion celsi Kerion celsi Kerion celsi Kérion de Celse Querión de Celso hrdo:pat_id_8579 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant L72.1 492 disease Cisti tricolemmale proliferante Kyste trichilemmal proliférant Proliferating trichilemmal cyst Quiste triquilemal proliferante Quisto triquilémico proliferativo Trichilemmalzyste, proliferierende hrdo:pat_id_858 Normal Normal Normal Normal Normal Normal Normale Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter D010008 10031231 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=osteochondritis+dissecans%5Bti%5D+OR+osteochondritis+dissecans%5Bmajr%5D M93.2 2764 82562007 C0029421 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Osteochondritis dissecans Osteochondritis dissecans Osteocondrite dissecante Osteocondrite dissecante Osteocondritis desecante Ostéochondrite disséquante hrdo:pat_id_8580 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta C535892 neant L66.1 525 64540004 C0023645 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Follicular lichen planus LPP LPP LPP LPP LPP Lichen follicolare Lichen follicularis Lichen follicularis Lichen piano follicolare Lichen plan folliculaire Lichen planus follicularis Lichen planus follicularis Lichen planus follicularis Lichen planus, follikulärer Liquen folicular Liquen folicular plano Liquen plano pilaris Lichen piano pilare Lichen plan pilaire Lichen planopilaris Lichen planopilaris Liquen plano pilar Líquen plano folicular hrdo:pat_id_8581 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 158000 607903 D056734 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Monilethrix Q84.1 573 C0546966 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Aplasie moniliforme Monilitrichie Syndrome de Sabouraud Monilethrix Monilethrix Monilethrix Monilethrix Monilethrix Moniletrix hrdo:pat_id_8582 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 10042926 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Syringocystadenoma+papilliferum%5Bti%5D D23.9 840 239121009 C0406803 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Fistulous vegetative verrucous hydradenoma Hidradenoma cysticum papilliferum Hidradenoma verrucoso fístulo-vegetativo Hidradenoma verrugoso vegetativo fistuloso Hydradénome verruqueux fistulo-végétant Idradenoma verrucoso fistoloso vegetante Siringocistadenoma papillifero Siringocistadenoma papilífero Siringocistadenoma papilífero Syringocystadenoma papilliferum Syringocystadenoma papilliferum Syringocystadénome papillifère hrdo:pat_id_8583 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 104000 300042 610753 10001766 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%22alopecia%22%5BMeSH+Terms%5D+OR+alopecia%5BTitle/Abstract%5D%29+AND+totalis%5BTitle/Abstract%5D L63.0 700 19754005 C0263504 disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Alopecia areata totale Alopecia total Alopecia total Alopecia totalis Alopecia totalis Pelade totale hrdo:pat_id_8584 Variabel Variabile Variable Variable Variable Variable Variável neant Q82.8 671 51603000 C0263417 malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Pachidermia vorticellata del cuoio capelluto Pachydermie vorticellée du cuir chevelu Cutis verticis gyrata Cutis verticis gyrata Cutis verticis gyrata Cutis verticis gyrata Pachidermia plicaturata del cuoio capelluto Pachydermie plicaturée du cuir chevelu hrdo:pat_id_8585 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Pili%5Bti%5D+%28bifurcat*+OR+multibifurcat*+OR+gemini+OR+multigemini%29 L67.8 720 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Pili bifurcati Pili bifurcati Pili bifurcati Pili bifurcati Pili bifurcati Pili bifurcati hrdo:pat_id_8586 neant L67.8 719 disease Peli scanalati Pili canulati Pili canulati Pili canulati Pili canulati Pili canulati hrdo:pat_id_8587 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta C536553 10044611 864 274899008 33059009 C0334262 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Trichofolliculoma Trichofolliculome Trichofollikulom Tricofoliculoma Tricofoliculoma Tricofollicoloma hrdo:pat_id_859 D014917 10034738 10047974 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=whooping+cough%5Bmajr%5D A37 1489 27836007 C0043167 disease Pertosse Pertussis Pertussis Pertussis Pertussis Pertussis Coqueluche Keuchhusten Tosferina Tosse canina Tosse convulsa Whooping cough hrdo:pat_id_8591 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 107970 600996 602086 602087 604400 604401 607450 609040 610193 610476 611528 D019571 10058093 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Arrhythmogenic+right+ventricular+dysplasia%5Bti%5D+OR+Arrhythmogenic+right+ventricular+dysplasia%5Bmh%5D I42.8 247 253528005 281170005 C0349788 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 ARVC ARVC ARVC ARVC ARVD ARVD ARVD ARVD Arrhythmogenic right ventricular cardiomyopathy CVDA Cardiomiopatia aritmogena del ventricolo destro Cardiomiopatía ventricular derecha arritmógena Cardiomyopathie ventriculaire droite arythmogène DVDA DVDA Kardiomyopathie, arrhythmogene rechtsventrikuläre MVDA Arrhythmogenic right ventricular dysplasia Displasia aritmogena del ventricolo destro Displasia do ventrículo direito arritmogénica Displasia ventricular derecha arritmógena Dysplasie ventriculaire droite arythmogène Dysplasie, arrhythmogene rechtsventrikuläre hrdo:pat_id_8592 607554 608583 608988 611493 611494 612201 612240 613055 613980 614022 614049 614050 neant I48 334 disease Familial atrial fibrillation Fibrilación auricular familiar Fibrilação auricular familiar Fibrillation auriculaire familiale Fibrillazione atriale familiare Vorhofflimmern, familiäres hrdo:pat_id_8593 255960 C538262 615 C1850635 disease Myxoma, atriales familiäres Familial atrial myxoma Mixoma atriale Mixoma auricular Mixoma auricular familiar Myxom, aurikuläres Myxome auriculaire hrdo:pat_id_8594 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 874 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Adult heart tumor Herztumor des Erwachsenen Tumeur du coeur de l'adulte Tumor cardiaco del adulto Tumor cardíaco do adulto Tumore cardiaco dell'adulto hrdo:pat_id_8597 Variabel Variabile Variable Variable Variable Variable Variável 600309 606215 606217 614430 614474 C536112 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Partial%5Bti%5D+%28atrioventricular+canal%5Btw%5D+OR+Endocardial+Cushion+Defects%5Bmh%5D%29 Q21.2 1330 C0344735 morphological anomaly 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Atrioventrikulärer Kanal, partieller Canal atrioventriculaire partiel Canal atrioventricular parcial Canal auriculo-ventricular parcial Canale atrioventricolare parziale Partial atrioventricular canal hrdo:pat_id_8598 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 610338 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Heart+Septal+Defects%2C+Ventricular+%28Pulmonary+Artery/ab+OR+%28anomal*+origin+pulmonary+artery%29%29+interventricular 2452 group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Malposición vascular Malposition vasculaire Malposizione vascolare Má posição vascular Vascular malposition Vaskuläre Fehllage hrdo:pat_id_8599 Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Right+atri*%5Bti%5D+%28dilat*%5Bti%5D+OR+enlargement+%5Bti%5D%29 Q20.8 1677 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Dilatación idiopática de la aurícula derecha Dilatation des rechten Atrium (Vorhof), familiär Dilatation idiopathique familiale de l'oreillette droite Dilatazione idiopatica dell'atrio destro Dilatação da aurícula direita familiar Familial idiopathic dilatation of the right atrium hrdo:pat_id_860 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 173200 D010916 10035116 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Pityriasis+rubra+pilaris%5Bti%5D+OR+Pityriasis+rubra+pilaris%5Bmh%5D L44.0 2897 3755001 C0032027 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Devergie-Krankheit Pitiriasi rubra pilare Pityriasis rubra pilaire Pityriasis rubra pilaris Pityriasis rubra pilaris Pityriasis rubra pilaris Pytiriasis rubra pilosa hrdo:pat_id_8600 neant E25.7 1676 disease Pulmonalarteriendilatation, familiäre Dilatación idiopática de la arteria pulmonar Dilatation idiopathique de l'artère pulmonaire Dilatazione idiopatica dell'arteria polmonare Dilatação da artéria pulmonar familiar Idiopathic pulmonary artery dilatation Pulmonalarteriendilatation, idiopathische hrdo:pat_id_8601 D003914 10012592 Q24.0 1666 27637000 74034002 C0011813 C0265863 morphological anomaly Destrocardia Dextrocardia Dextrocardia Dextrocardia Dextrocardie Dextrokardie hrdo:pat_id_8602 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Criss+cross+heart+OR+Twisted+atrioventricular+connection*%5Bti%5D+OR+Discordant+atrioventricular+connection*%5Bti%5D Q24.8 1461 253269002 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Atrio-ventrikuläre Verbindungen, verdrehte Coeur avec ventricules entrecroisés Comunicações auriculo-ventriculares cruzadas Criss-cross Twisted atrioventricular connections Coeur croisé Corazón en criss-cross Coração cruzado Criss-cross Herz Criss-cross heart Cuore a "criss-cross" hrdo:pat_id_8605 neant Q23.2 1205 morphological anomaly Atresia della mitrale Atresia mitral Atresia mitral Atrésie mitrale Mitral atresia Mitralatresie hrdo:pat_id_8606 neant Q22.1 3192 morphological anomaly Estenose pulmonar supra-valvular Estenosis supra valvular pulmonar Lungenstenose, supravalvuläre Stenosi sopravalvolare polmonare Sténose supra-valvulaire pulmonaire Supravalvular pulmonary stenosis hrdo:pat_id_8607 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 875 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cardiac tumor of the child Heart tumor of the child Herztumor des Kindes Tumeur du coeur de l'enfant Tumor cardiaco del niño Tumor cardíaco infância Tumore cardiaco del bambino hrdo:pat_id_8608 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 613471 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Reynolds+syndrome%5Bti%5D+OR+%28scleroderma%5Bti%5D+biliary+cirrhosis%5Bti%5D%29 K74.5 L94.0 779 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Reynolds syndrome Reynolds-Syndrom Sindrome di Reynolds Syndrome de Reynolds Síndrome de Reynolds Síndrome de Reynolds hrdo:pat_id_8609 Variabel Variabile Variable Variable Variable Variable Variável D052880 10037652 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=pyomyositis%5Btw%5D M60.0 764 65110003 C1704275 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Piomiosite Piomiosite Piomiositis Pyomyosite Pyomyositis Pyomyositis hrdo:pat_id_861 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável D001906 10006041 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28botulism%5Bmh%5D+OR+Botulism%5Bti%5D%29+AND+%28humans+OR+clinical+OR+patient*%29 A05.1 1267 398565003 414531002 C0006057 disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Botulism Botulisme Botulismo Botulismo Botulismo Botulismus hrdo:pat_id_8610 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 10049430 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Peripartum+OR+postpartum+OR+puerper*%29+cardiomyopath*%5Bti%5D O90.3 563 16253001 62377009 C0269972 C0877208 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cardiomiopatia postparto Cardiomiopatía postparto Cardiomyopathie gravidique Kardiomyopathie, postpartale Meadows' syndrome Meadows-Syndrom Miocardiopatia pós-parto PPCM Postpartum cardiomyopathy Sindrome di Meadow Syndrome de Meadows Síndrome de Meadow Cardiomiopatia periparto Cardiomiopatía periparto Kardiomyopathie, peripartale Miocardiopatia peri-parto Myocardiopathie gravidique primitive Peripartum cardiomyopathy hrdo:pat_id_8611 Variabel Variabile Variable Variable Variable Variable Variável C537778 10068801 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Antisynthetase+syndrome*%5Btw%5D+OR+Antisynthetase+autoantibod*%5Btw%5D+OR+%28Amino+Acyl-tRNA+Synthetases%5Bmh%5D+Autoantibodies%29 D89.8 81 445187004 C2609059 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Antisynthetase syndrome Antisynthetase-Syndrom Sindrome da antisintetasi Syndrome des antisynthétases Síndrome anti-sintetase Síndrome de antisintetasas hrdo:pat_id_8612 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D000796 10048640 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22angiolymphoid+hyperplasia+with+eosinophilia%22%5Bmh%5D+OR+angiolymphoid+hyperplasia+with+eosinop*%5Bti%5D+OR+kimura+dis*%5Bti%5D D21 I89.8 L92.8 482 399894006 C0033838 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Eosinophilic lymphogranuloma Linfogranuloma eosinofilo Linfogranuloma eosinofílico Lymphgranulom, eosinophiles Lymphogranulome éosinophile Doença de Kimura Enfermedad de Kimura Kimura disease Kimura-Krankheit Maladie de Kimura Malattia di Kimura hrdo:pat_id_8613 Variabel Variabile Variable Variable Variable Variable Variável 609817 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=cutaneous+vasculitis%5Bti%5D+OR+leukocytoclastic+vasculitis%5Bti%5D+OR+%22vasculitis%2C+allergic+cutaneous%22%5BMeSH+Terms%5D M31.0 889 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cutaneous hypersensitivity vasculitis Cutaneous small vessel vasculitis Vascularite des petits vaisseaux cutanés Vascularite hypersensitive cutanée Vasculite cutanea dei piccoli vasi Vasculite ipersensitiva cutanea Vaskulitis, kutane hypersensitive Vaskultis kleiner Gefäße (CSVV) Angiitis, kutane leukozytoklastische Angioite cutanea leucocitoclastica Angéite cutanée leucocytoclasique Cutaneous leukocytoclastic angiitis Vasculite cutânea Vasculitis cutánea hrdo:pat_id_8614 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D055955 neant I67.7 838 197679002 C2717757 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Kleine Cochlea-, Retina- und Hirninfakte Microangiopathie cochléo-encéphalo-rétinienne Pequeños infartos de tejido coclear, retiniano y encefálico Petit infarctus cochléaire, rétinien et du tissu cérébral Piccoli infarti del tessuto cocleare, retinico ed encefalico RED-M RED-M RED-M RED-M RED-M Retinopathie - Enzephalopathie - Schwerhörigkeit bei assoziierter Mikroangiopathie Retinopathy, encephalopathy, deafness associated microangiopathy Retinopatia, encefalopatia, sordità associata a microangiopatia Retinopatía, encefalopatía, sordera asociada a microangiopatía SICRET syndrome SICRET-Syndrom Sindrome SICRET Small infarctions of cochlear, retinal and encephalic tissue Syndrome de SICRET Síndrome SICRET Sindrome di Susac Susac syndrome Susac-Syndrom Syndrome de Susac Síndrome de Susac Síndrome de Susac hrdo:pat_id_8616 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D019559 10007196 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22capillary+leak+syndrome%22%5BMH%5D+OR+%22Capillary+leak+syndrome%22%5BTW%5D+OR+%22vascular+leak+syndrome%22%5BTW%5D I78.8 188 87730004 C0343084 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Capillary leak syndrome Clarkson disease Clarkson, doença de Clarkson-Krankheit Doença de Clarkson Idiopathic capillary leak syndrome Kapillarleck-Syndrom Maladie de Clarkson Malattia di Clarkson SCLS SCLS SFC SFCI Syndrome de fuite capillaire Syndrome de fuite capillaire idiopathique Capillary-Leak-Syndrom Sindrome della deiscenza capillare Syndrome de fuite capillaire systémique Systemic capillary leak syndrome Síndrome de extravasación capilar Síndrome derrame capilar hrdo:pat_id_8617 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28multifocal+OR+Chaotic%29%28atrial+tachycardia%5Btw%5D+OR+Tachycardia%5Bmh%5D%29+infant I47.1 3282 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Vorhoftachykardie, chaotische Chaotic atrial tachycardia Tachicardia atriale caotica Tachycardie atriale chaotique Tachykardie, atriale chaotische Taquicardia atrial caótica Taquicardia auricular caótica hrdo:pat_id_8618 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável neant 658 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Angio-oedème bradykinique Angio-oedème non histaminique Angioedema Angioedema inducido por bradiquinina Angioedema no inducido por histamina Angioneurotic edema Angioödem, Bradykinin-induziertes Angioödem, nicht-Histamin induziertes Bradykinine-induced angioedema Edema angioneurótico Non histamine-induced angioedema OAN Oedème angioneurotique Ödem, angioneurotisches Angio-oedème Angioedema Angioedema Angioödem Edema angio-neurótico Non-histaminic angioedema hrdo:pat_id_8619 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 300337 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Ito%5Btw%5D+%28hypomelanosis+OR+Pigmentation+Disorders+OR+hypopigment*%29%29+OR+%28incontinentia+pigm*+%28achromians+OR+type+I%5Btw%5D%29%29 Q87.8 435 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Esporádica Esporádico Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X Sporadic Sporadic Sporadica Sporadique Sporadisch X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown HI syndrome HI-Syndrom Hypomelanosis of Ito Incontinentia pigmenti Typ 1 Incontinentia pigmenti achromians Incontinentia pigmenti tipo 1 Incontinentia pigmenti type 1 Incontinentia pigmenti type 1 Incontinentia pigmenti, tipo 1 Ito, hipomelanose de Mosaicismo pigmentario, tipo Ito Mosaïcisme pigmentaire de type Ito Pigmentary mosaicism, Ito type Pigmentmosaik vom Typ Ito Sindrome HI Hipomelanose de Ito Hipomelanosis de Ito Hypomelanose Typ Ito Hypomélanose de Ito Ipomelanosi di Ito Ito hypomelanosis hrdo:pat_id_862 D004165 10013023 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=diphtheria%5Bmajr%5D A36 1679 397428000 C0012546 disease Difteria Difteria Difterite Diphterie Diphtheria Diphtérie hrdo:pat_id_8620 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance C536321 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Poikiloderma+Kindler+OR+kindler+syndrome%5Bti%5D Q81.8 2908 238836000 C0406557 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown KS KS KS KS Poichilodermia di Kindler Poikiloderma of Kindler Poikilodermie Typ Kindler Poiquilodermia de Kindler Poïkilodermie de Kindler SK Kindler syndrome Kindler-Syndrom Poiquilodermia de Kindler Sindrome di Kindler Syndrome de Kindler Síndrome de Kindler hrdo:pat_id_8621 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 604093 neant 3406 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Uleritema ofriogene Uleritema ofriogénesis Ulerythema ophryogenes Ulerythema ophryogenesis Ulerythema ophryogenesis Ulérythème ophryogène hrdo:pat_id_8622 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Variabel Variabile Variable Variable Variable Variable Variável D016109 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=epidermolysis+bullosa,+junctional+OR+Epidermolysis+Bullosa+letalis%5Btw%5D 305 399971009 C0079301 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo group of phenomes <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 EBJ EBJ EBJ EBJ EBJ Epidermolysis bullosa atrophicans Epidermólisis ampollosa atrófica Epidermólisis bullosa atrófica Epidermólisis bullosa juntural JEB Epidermolisi bollosa giunzionale Epidermolyse bulleuse jonctionnelle Epidermolysis bullosa, junktionale Epidermólise bolhosa juncional Epidermólisis ampollosa juntural Junctional epidermolysis bullosa hrdo:pat_id_8623 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=epidermolysis+bullosa+dystrophica%5Bmh%5D+OR+Epidermolysis+Bullosa+dystroph*%5Btw%5D+OR+dystrophic+Epidermolysis+Bullo*%5Btw%5D Q81.2 303 254185007 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 DEB DEB Dermolytic epidermolysis bullosa EBD EBD EBD Epidermolisi bollosa dermolitica Epidermolyse bulleuse dermolytique Epidermolysis bullosa dystrophica Epidermólise bolhosa dermolítica Epidermólise bulhosa dermolítica Epidermólisis bullosa distrófica Malattia di Cockayne-Touraine Dystrophic epidermolysis bullosa Epidermolisi bollosa distrofica Epidermolyse bulleuse dystrophique Epidermolysis bullosa, dystrophe Epidermólise bolhosa distrófica Epidermólisis ampollosa distrófica hrdo:pat_id_8624 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 101850 C535653 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=acrokeratoelastoidosis%5BAll+Fields%5D Q82.8 38 111029001 C0545044 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown AKE AKE AKE AKE Cheratoderma palmoplantare puntato, tipo 3 Hiperqueratosis palmoplantar punctata tipo 3 Hyperkératose palmoplantaire ponctuée type 3 Ipercheratosi palmoplantare puntata, tipo 3 KPPP3 Kératodermie palmoplantaire ponctuée type 3 PPKP3 PPKP3 PPKP3 PPKP3 Punctate palmoplantar hyperkeratosis type 3 Punctate palmoplantar keratoderma type 3 Queratodermia palmoplantar punctata tipo 3 Acro-kérato-élastoïdose de Costa Acrocheratoelastosi di Costa Acrokeratoelastoidosis of Costa Acroqueratoelastoidose de Costa Acroqueratoelastoidosis de Costa Akrokeratoelastoidose Costa hrdo:pat_id_8625 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=acromelanosis L81.4 39 239089006 C0406779 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acromelanose Acromelanosi Acromelanosis Acromelanosis Acromélanose Akromelanose hrdo:pat_id_8626 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 127400 C535729 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28acropigmentation+Dohi%29+OR+%28Dyschromatosis+symmetrica+hereditaria%29 L81.8 41 239085000 C0406775 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Acropigmentación de Dohi Acropigmentation de Dohi Acropigmentation of Dohi Discromatose simétrica hereditária Discromatosi simmetrica delle estremità Dyschromatosis symmetrica hereditaria Acropigmentazione di Dohi Acropigmentação de Dohi Akropigmentierung Typ Dohi Discromatosis simétrica hereditaria Dyschromatose symétrique des extrémités Dyschromatosis symmetrica hereditaria hrdo:pat_id_8627 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 135150 D058249 10067736 122 110985001 C0346010 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Fibrofoliculoma com tricodiscomas e acrocordões Fibrofolliculoma con tricodiscoma e acrocordoni Fibrofolliculomas with trichodiscomas and acrochordons Fibrofolliculome avec trichodiscome et acrochordons Fibrofollikulome - Trichodiskome - Akrochordone Birt-Hogg-Dube syndrome Birt-Hogg-Dubé-Syndrom Sindrome di Birt-Hogg-Dubé Syndrome de Birt-Hogg-Dubé Síndrome de Birt-Hogg-Dube Síndrome de Birt-Hogg-Dubé hrdo:pat_id_8629 132700 C536611 neant 211 211710004 C1704217 C1851526 clinical subtype 'Turban tumor' syndrome Sindrome del tumore a "turbante" Syndrome de tumeur en turban Síndrome tumor Turban Tumor Turban', síndrome Turban tumor syndrome Turban-Tumor-Syndrom Cilindromatose familiar Cilindromatosi familiare Cilindromatosis de Poncet-Spiegler Cylindromatose familiale Familial cylindromatosis Zylindromatose, familiäre hrdo:pat_id_863 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 607948 D014376 10044755 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=tuberculosis%5Bmajr%5D+AND+review%5Bpt%5D A15-A19 3389 371569005 373576009 56717001 C0041296 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Tubercolosi Tuberculose Tuberculose Tuberculosis Tuberculosis Tuberkulose hrdo:pat_id_8630 127500 612715 neant L81.8 241 239082002 C1306229 disease Discromatose universal Discromatosi universale Discromatosis universal Dyschromatose universelle Dyschromatosis universalis Dyschromatosis universalis hrdo:pat_id_8631 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 133200 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=progressive+symmetric+erythrokeratoderma+OR+Darier-Gottron Q82.8 316 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Darier-Gottron disease Darier-Gottron, doença de Darier-Gottron-Krankheit Doença de Darier-Gottron Enfermedad de Darier-Gottron Eritrocheratodermia simmetrica progressiva, tipo Gottron Eritroqueratodermia progresiva simétrica, tipo Gottron Erythrokeratodermia progressiva symmetrica Erythrokératodermie progressive et symétrique type Gottron Maladie de Darier-Gottron Malattia di Darier-Gottron PSEK Progressiva symmetrica erythrokeratodermia Progressive symmetric erythrokeratodermia, Gottron type Eritrocheratodermia simmetrica progressiva Eritroqueratodermia progresiva simétrica de Gottron Eritroqueratodermia simétrica progressiva Erythrokeratodermie, progressive symmetrische Erythrokératodermie progressive et symétrique Progressive symmetric erythrokeratodermia hrdo:pat_id_8632 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant Q82.8 315 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Degos Genodermatosis 'en cocardes' Degos genodermatosis "en cocardes" Genodermatose 'en cocardes' de Degos Genodermatosi a "coccarda" di Degos Génodermatose en cocardes de Degos Eritrocheratoderma a ''coccarda'' Eritroqueratodermia 'en cocardes' de Degos Eritroqueratodermia en escarapela de Degos Erythrokeratoderma "en cocardes" Erythrokeratodermie mit kokardenförmigen Plaques Erythrokératodermie en cocardes hrdo:pat_id_8633 Normal Normal Normal Normal Normal Normal Normale Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis 338 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Familial multiple fibrofolliculoma Fibrofoliculoma múltiplo familiar Fibrofoliculomas múltiples familiares Fibrofolliculomes multiples familiale Fibrofolliculomi multipli familiari Fibrofollikulom, familiäres multiples hrdo:pat_id_8634 181600 neant Q82.8 384 disease Escleroatrófico, síndrome Huriez syndrome Huriez, síndrome de Huriez-Syndrom Keratodermatose, Sklero-atrophische der Extremitäten, Typ Huriez PPK mit Skleroatrophie Palmoplantar hyperkeratosis-sclerodactyly syndrome Scleroatrophic syndrome Sindrome di Huriez Sindrome ipercheratosi palmoplantare-sclerodattilia Sindrome scleroatrofica Syndrome de Huriez Syndrome de hyperkératose palmoplantaire-sclérodactylie Síndrome de Huriez Síndrome de Huriez Síndrome de hiperqueratosis palmoplantar - esclerodactilia Síndrome escleroatrófico Síndrome escleroatrófico Palmoplantar keratoderma-sclerodactyly syndrome Palmoplantarkeratose (PPK) - Sklerodaktylie Queratodermia palmo-plantar - esclerodactilia Sindrome cheratoderma palmoplantare-sclerodattilia Syndrome de kératodermie palmoplantaire-sclérodactylie Síndrome de queratodermia palmoplantar - esclerodactilia hrdo:pat_id_8637 600962 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Thost+Unna%5Btw%5D+palmoplantar+keratoderma+OR+(nonepidermolytic%5Bti%5D+OR+non+epidermolytic%5Bti%5D)+palmoplantar+keratoderma Q82.8 496 disease Cheratoderma palmoplantare non epidermolitica Kératodermie palmoplantaire non épidermolytique Non-epidermolytic palmoplantar keratoderma Palmoplantarkeratose, nicht-epidermiolytische Cheratoderma palmoplantare di Thost-Unna Kératodermie palmoplantaire de Thost-Unna Palmoplantarkeratose Unna-Thost Queratodermia palmoplantar de Thost-Unna Queratodermia palmoplantar de Thost-Unna Thost-Unna palmoplantar keratoderma hrdo:pat_id_8638 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 144150 149500 C538377 409 28488007 C0263420 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Doença de Flegel Enfermedad de Flegel Flegel disease Flegel, doença de Maladie de Flegel Malattia di Flegel Morbus Flegel Hiperqueratose lenticular persistente Hiperqueratosis lenticularis persistans Hyperkeratosis lenticularis perstans Hyperkeratosis lenticularis perstans Hyperkératose lenticulaire persistante Ipercheratosi lenticolare persistente hrdo:pat_id_864 D013742 10043376 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Tetanus%5Bmajr%5D+OR+%28Tetanus%5Bti%5D+NOT+medline%5Bsb%5D%29+NOT+tetanus+toxoid+AND+%28humans+OR+child+OR+patient*%29 A33 A34 A35 3299 276202003 76902006 C0039614 disease Wundstarrkrampf Tetano Tetanus Tetanus Tétano Tétanos Tétanos hrdo:pat_id_8640 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant L85.0 454 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Acquired ichthyosis Ichthyose, erworbene Ichtyose acquise Ictiose adquirida Ictiosis adquirida Ittiosi acquisita hrdo:pat_id_8644 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 146700 neant Q80.0 462 20512000 254158000 C0432300 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Autosomal dominant ichthyosis vulgaris Ichthyosis vulgaris, autosomal-dominante Ichtyose vulgaire autosomique dominante Ictiose vulgar dominante Ictiosis vulgar con transmisión autosómica dominante Ittiosi volgare a trasmissione autosomica dominante hrdo:pat_id_8645 Variabel Variabile Variable Variable Variable Variable Variável L85.8 493 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Epitelioma escamoso múltiplo de remissão espontânea Epitelioma multiplo squamoso a guarigione spontanea Hereditary keratoacanthoma Keratoakanthom, hereditäres Keratoakanthome, multiple Kératoacanthome héréditaire Kératoacanthome multiple Multiple keratoacanthoma Cheratoacantoma familiare Familial keratoacanthoma Keratoakanthom, familiäres Kératoacanthome familial Queratoacantoma familiar Queratoacantoma familiar hrdo:pat_id_8647 498 400059005 group of phenomes Keratosis pilaris atrophicans Cheratosi pilifera e atrofizzante Keratosis pilaris atrophicans Keratosis pilaris rubra atrophicans Kératose pilaire rouge et atrophiante Queratose pilaris atrófica Queratosis pilosa roja y atrofiante hrdo:pat_id_8648 neant L21.1 314 disease Doença de Leiner Erythrodermia exfoliativa Leiner Leiner disease Leiner, doença de Leiner-Krankheit Maladie de Leiner-Moussous Malattia di Leiner Eritroderma desquamativo Eritrodermia descamativa Eritrodermia descamativa de Leiner-Moussous Erythroderma desquamativa Erythroderma desquamativa Erythrodermie desquamative hrdo:pat_id_8649 Normal Normal Normal Normal Normal Normal Normale Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 150699 150700 150800 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Leiomyoma*%5Bti%5D+%28familial+OR+inherited+OR+hereditary%29+OR+%28fumarate+hydratase%5Bti%5D+leiomyomatosis%29+OR+Leiomyoma/ge D23 523 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Familial leiomyomatosis with renal carcinoma Familial leiomyomatosis with renal cell cancer Familial multiple cutaneous leiomyomas Familiäre Leiomyomatose mit renalem Karzinom HLRCC HLRCC HLRCC HLRCC HLRCC Hereditary leiomyomatosis Hereditary leiomyomatosis with renal carcinoma Hereditary leiomyomatosis with renal cell cancer Hereditary multiple cutaneous leiomyomas Leimiomi uterini e cutanei multipli Leiomiomas cuatáneos múltiples familiares Leiomiomas cutáneos múltiples hereditarios Leiomiomas cutáneos y uterinos múltiples Leiomiomas cutâneos múltiplos, familiar Leiomiomatosi ereditaria Leiomiomatosi ereditaria con cancro a cellule renali Leiomiomatosi ereditaria con carcinoma renale Leiomiomatosi familiare con cancro a cellule renali Leiomiomatosi familiare con carcinoma renale Leiomiomatosis familiar con carcinoma renal Leiomiomatosis familiar con cáncer de células renales Leiomiomatosis hereditaria Leiomiomatosis hereditaria con carcinoma renal Leiomiomatosis hereditaria con cáncer de células renales Leiomiomi cutanei multipli ereditari Leiomiomi cutanei multipli familiari Leiomyomatose, hereditäre Leiomyome, kutane multiple, familiäre Form Leiomyomes cutanés multiples familiaux Leiomyomes cutanés multiples héréditaires Léiomyomatose familiale - cancer du rein Léiomyomatose héréditaire Léiomyomatose héréditaire - cancer du rein Léiomyomes cutanés et utérins multiples Multiple Leiomyome, kutane und uterine Multiple cutaneous and uterine leiomyomas Familial leiomyomatosis Leiomiomatose familiar Leiomiomatosi familiare Leiomiomatosis familiar Leiomyomatose, familiäre Léiomyomatose familiale hrdo:pat_id_865 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Asbestos/po+OR+Asbestosis%5Bti%5D+OR+Asbestosis%5Bmh%5D%29+humans J61 2302 disease Asbestose Asbestose Asbestose Asbestosi Asbestosis Asbestosis Asbestintoxifikation Asbestos intoxication Intossicazioni da amianto Intoxicación por amianto Intoxication à l'amiante Intoxicação por amianto hrdo:pat_id_8650 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 247100 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Lipoid+proteinosis E78.8 530 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Doença de Urbach-Wiethe Hialinose muco-cutânea Hyalinose cutanéo-muqueuse Hyalinosis cutis et mucosae Hyalinosis cutis et mucosae Ialinosi cutaneomucosa Maladie de Urbach-Wiethe Malattia di Urbach-Wiethe Roessle-Urbach-Wiethe-Syndrom Urbach-Wiethe disease Urbach-Wiethe, doença de Urbach-Wiethe-Syndrom Lipoid proteinosis Lipoidproteinose Lipoproteinosi Lipoproteinosis de Urbach-Wiethe Proteinose lipóide Protéinose lipoïde hrdo:pat_id_8651 623 disease Naevi - atriales Myxom - myxoides Neurofibrom - Epheliden Naevi - myxome de l'oreillette - neurofibrome myxoïde - éphélides Nevi - atrial myxoma - myxoid neurofibromata - ephelides Nevi - mixoma atriale - neurofibromi mixoidi - efelidi Nevo - mixoma auricular - neurofibromas mixóides - efélides NAME syndrome NAME-Syndrom Sindrome NAME Syndrome NAME Síndrome NAME Síndrome NAME hrdo:pat_id_8652 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 614594 10068842 neant Q82.8 659 C2609071 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X Sporadic Sporadic Sporadica Sporadique Sporadisch X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cheratoderma palmoplantare e periorifiziale Hiperqueratosis palmoplantar mutilante con placas queratósicas periorificiales Hyperkératose palmoplantaire mutilante avec plaques kératosiques péri-orificielles Ipercheratosi palmoplantare mutilante con placche cheratosiche periorifiziali Kératodermie palmoplantaire et péri-orificielle Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques Olmsted syndrome Palmoplantar and periorificial keratoderma Queratodermia palmoplantar y periorificial Sindrome di Olmsted Syndrome d'Olmsted Síndrome de Olmsted Cheratoderma palmoplantare mutilante con placche cheratosiche periorifiziali Kératodermie palmoplantaire mutilante avec plaques kératosiques péri-orificielles Mutilating palmoplantar keratoderma with periorificial keratotic plaques Olmsted-Syndrom Queratodermia palmoplantar mutilante con placas queratósicas periorificiales Síndrome de Olmsted hrdo:pat_id_8653 175800 neant Q82.8 735 80432009 disease Porocheratosi di Mibelli Porokeratosis Mibelli Porokeratosis of Mibelli Porokératose de Mibelli Poroqueratose de Mibelli Poroqueratosis de Mibelli hrdo:pat_id_8654 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Mantoux+porokeratosis 736 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Palmoplantar porokeratosis of Mantoux Porocheratosi palmoplantare di Mantoux Porokeratose, palmoplantare, Typ Mantoux Porokératose palmoplantaire de Mantoux Poroqueratose palmo-plantar de Mantoux Poroqueratosis palmoplantar de Mantoux hrdo:pat_id_8655 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 175850 neant Q82.8 737 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Porocheratosi palmoplantare e disseminata Porokeratosis palmaris et disseminata Porokeratosis plantaris palmaris and disseminata Porokératose palmoplantaire et disséminée Poroqueratose palmo-plantar e disseminada Poroqueratosis palmoplantar y diseminada hrdo:pat_id_8656 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 184500 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Sebocystomatosis+OR+Steatocystoma+multiplex%5Btw%5D)+Epidermal+Cyst L72.2 841 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Esteatocistoma múltiple Steatocystoma multiplex Sebocistomatose Sebocistomatosi Sebocistomatosis Sebocystomatosis Sebokystomatose Sébocystomatose hrdo:pat_id_8657 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance neant Q80.8 817 238643009 C0406357 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deciduous skin Peau déciduale Pele decícua Pelle deciduale Piel decidual Schalenhaut-Syndrom 'Sindrome ''skin peeling'' ' Peeling Skin-Syndrom Peeling skin syndrome Peeling skin syndrome Síndrome de descamación de la piel Síndrome pele descascada hrdo:pat_id_8658 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Stuccokeratosis 830 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Estucoqueratosis Stuccocheratosi Stuccokeratosis Stuccokératose Stuccoqueratose Stukkokeratose hrdo:pat_id_8659 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 601606 612099 C536552 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Trichoepithelioma*%5Bti%5D+multiple+familial+OR+epithelioma%5Bti%5D+adenoides+cysticum D23.3 867 403825008 C1275122 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Familial multiple trichoepithelioma Trichoepitheliom, familiäres multiples Trichoépithéliome multiple familial Tricoepitelioma multiplo familiare Tricoepitelioma múltiple familiar Tricoepitelioma múltiplo familiar hrdo:pat_id_866 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável D011818 10037742 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Rabies%5Bmh%5D+AND+%28humans+OR+patient*+OR+human%29%29+OR+%28Rabies%5Bti%5D+AND+medline%5Bsb%5D%29 A82 770 14168008 C0034494 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Rabbia Rabia Rabies Rage Raiva Tollwut hrdo:pat_id_8660 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 602248 D054853 10064281 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=malignant+atrophic+papulosis%5Btw%5D+OR+Kohlmeier-Degos%5Btw%5D I77.8 679 400171002 C0221011 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Degos disease Degos, doença de Degos-Krankheit Doença de Degos Enfermedad de Degos Enfermedad de Kohlmeier-Degos Kohlmeier-Degos disease Köhlmeier-Degos-Delort-Tricort syndrome Maladie de Degos Maladie de Kohlmeier-Degos Malattia di Degos Papulosis atrophican maligna Syndrome de Köhlmeier-Degos-Delort-Tricort Malignant atrophic papulosis Papulose atrophiante maligne Papulose atrófica maligna Papulose, atrophische maligne Papulosi atrofizzante maligna Papulosis atrófica maligna hrdo:pat_id_8662 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta C536693 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Wells+Syndrome%5Btitle/abstract%5D+OR+Eosinophilic+Cellulitis%5Btitle/abstract%5D+NOT+Muckle+wells+syndrome L98.3 901 C0343101 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cellulite da eosinofili Cellulite à éosinophiles Celulite eosinofílica Eosinophilic cellulitis Zellulitis, eosinophile Sindrome di Wells Syndrome de Wells Síndrome de Wells Síndrome de Wells Wells syndrome Wells-Syndrom hrdo:pat_id_8663 Variabel Variabile Variable Variable Variable Variable Variável D010391 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22pemphigoid%2C+bullous%22%5BMeSH+Terms%5D+OR+Bullous+pemphigoid%5BText+Word%5D L12.0 703 77090002 C0030805 disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Bullous pemphigoid Pemfigo bolloso Pemfigoide bulloso Pemphigoid, bullöses Pemphigoïde bulleuse Pênfigo bolhoso hrdo:pat_id_8664 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 155600 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Atypical%5Bti%5D+mole%5Bti%5D+OR+Dysplastic+Nevus+Syndrome%5Bmajr%5D+OR+Dysplastic+Nevus+Syndrome%5Bti%5D D22 625 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Clark nevus Clark-Naevus Dysplastic nevus FAMMM Familial atypical multiple mole melanoma syndrome Neo di Clark Neo displastico Nevi displastici Nevo de Clark Nevo displásico Nevus de Clark Nevus displásico Nevus dysplasique Atypical mole Naevus, dysplastischer Nevi atipici Nevo atípico Nevus atypique Nevus atípico hrdo:pat_id_8665 Variabel Variabile Variable Variable Variable Variable Variável 135290 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Desmoid%5Bti%5D+OR+aggressive+fibromatosis%5Bmh%5D D48.1 873 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Aggressive fibromatosis Desmoid-Krankheit Fibromatose agressiva Fibromatose agressive Fibromatosis agresiva Desmoid disease Desmoidtumor Doença desmóide Tumeur desmoïde Tumor desmoide Tumore desmoide hrdo:pat_id_8667 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável D000308 D003480 10011652 10020562 10020564 10020610 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Cushing+syndrome%5Bmh%5D+OR+Cushing+syndrome%5Bti%5D E24 553 275437005 47270006 C0001622 C0010481 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Cushing's syndrome Hiperadrenocorticismo Hiperadrenocorticismo Hipercortisolismo Hipercortisolismo Hyperadrenocorticism Hyperadrenokortizismus Hyperadrénocorticisme Hypercortisolism Hypercortisolisme Hyperkortisolismus Cushing syndrome Cushing-Syndrom Sindrome di Cushing Syndrome de Cushing Síndrome de Cushing Síndrome de Cushing hrdo:pat_id_8668 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 146110 147950 228300 244200 610628 612370 612702 614837 614838 614839 614840 614841 614842 614858 614880 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=hypogonadism%5Bmh%3Anoexp%5D+hypogonadotropi*+(congenital+OR+familial+OR+inherited+OR+sporadic)+NOT+(anosmia+OR+Olfaction+Disorders) E23.0 432 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Déficit congénital isolé en gonadotropine Déficit gonadotropique Gonadotropic deficiency Gonadotropin-Mangel Gonadotropin-Mangel, isolierter kongenitaler Insufficienza gonadotropica Insufficienza gonadotropica isolata congenita Isolated congenital gonadotropin deficiency Hipogonadismo hipogonadotropo congénito sin anosmia Hipogonadismo hipogonadotrófico isolado Hypogonadisme hypogonadotropique congénital sans anosmie Hypogonadismus, hypogonadotroper isolierter Ipogonadismo ipogonadotropo congenito senza anosmia Normosmic congenital hypogonadotropic hypogonadism hrdo:pat_id_867 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 10001935 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=chagas+disease%5Bti%5D+OR+American+trypanosomiasis%5Bti%5D+OR+chagas+disease%5Bmh%5D B57 3386 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Chagas disease Chagas, doença de Chagas-Krankheit Doença de Chagas Enfermedad de Chagas Maladie de Chagas Malattia di Chagas Trypanosomose américaine American trypanosomiasis Amerikanische Trypanosomiasis Tripanosomiasi Americana Tripanosomiasis americana Tripanossomíase americana Trypanosomiase américaine hrdo:pat_id_8670 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 613546 C537436 neant E25.8 91 C0878680 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Congenital estrogen deficiency Déficit congénital en estrogènes Aromatase deficiency Aromatase-Mangel Deficit di aromatasi Deficiência de aromatase Déficit de aromatasa Déficit en aromatase hrdo:pat_id_8671 neant 785 disease Estrogen resistance syndrome Sindrome da resistenza agli estrogeni Syndrome de résistance aux récepteurs des oestrogènes Síndrome de resistencia a estrógenos Síndrome resistência aos estrogéneos Östrogen-Resistenz-Syndrom hrdo:pat_id_8672 Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Glucocorticoid*%5Bti%5D+OR+Receptors%2C+Glucocorticoid%29+resistan*%5Bti%5D+NOT+insulin+resistance E25.8 786 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Glucocorticoid resistance Glukokortikoid-Resistenz Resistencia a glucocorticoides Resistenza ai glucocorticoidi Resistência aos glucocorticóides Résistance aux glucocorticoïdes hrdo:pat_id_8674 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 176400 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Precocious+puberty+%28gonadotropin*+dependent%5Bti%5D+OR+central%5Bti%5D%29 E22.8 759 237816004 C0342543 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Gonadotropin-dependant precocious puberty Pubertad precoz dependiente de gonadotrofinas Pubertas praecox, Gonadotropin-abhängige Pubertà precoce dipendente dalle gonadotropine Puberté précoce dépendante des gonadotrophines Central precocious puberty Puberdade precoce dependente da gonadotrofina Pubertad precoz central Pubertà precoce centrale Pubertät, vorzeitige zentrale Puberté précoce centrale hrdo:pat_id_8675 608266 C75.0 143 255037004 disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Cancer des parathyroïdes Carcinoma das paratiroides Cáncer de paratiroides Nebenschilddrüsen-Krebs Parathyroid carcinoma Tumore delle paratiroidi hrdo:pat_id_8676 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta C536910 10002240 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Thyroid+carcinoma+%28anaplastic%5Bti%5D+OR+undifferentiated%5Bti%5D%29 C73 142 255031003 C0238461 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Anaplastic thyroid carcinoma Cancer anaplasique de la thyroïde Cancro anaplásico da tiroide Cáncer anaplásico de tiroides Schilddrüsenkarzinom, anaplastisches Tumore anaplasico della tiroide hrdo:pat_id_8677 872 group of phenomes Anomalias da síntese hormonal, com ou sem bócio Difetti dell'ormonosintesi con o senza gozzo Disorder in the hormonal synthesis with or without goiter Störung der hormonellen Synthese mit oder ohne Kropf Trastorno de la síntesis hormonal tiroidea con o sin bocio Troubles de l'hormono-synthèse avec ou sans goître hrdo:pat_id_8678 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta C538238 10068763 neant D35.0 463 127021009 C2609247 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Nebenniereninzidentalom Adrenal incidentaloma Incidentaloma suprarenal Incidentaloma suprarrenal Incidentaloma surrenale Incidentalome surrénalien Inzidentalom, adrenales hrdo:pat_id_8680 Variabel Variabile Variable Variable Variable Variable Variável 262600 312000 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=(multiple+pituitary+hormo*%5Btiab%5D+OR+combined+pituitary+hormo*%5Btiab%5D)+(defici*%5BTIAB%5D+OR+pituitary+hormones,+anterior%2Fdf+OR+hypopituitarism%2Fcn) E23.0 467 group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Congenital combined pituitary hormone deficiency Congenital hypopituitarism Déficit de hormonas pituitarias combinado congénito Hipopituitarismo congénito Hypophysenhormon-Mangel, kombinierter kongenitaler Hypopituitarisme congénital Hypopituitarismus, kongenitaler Insuffisance hypophysaire multiple congénitale Nanismo por deficiência combinada de hormona do crescimento Deficit combinato non acquisito dell'ormone ipofisario Déficit de hormonas pituitarias combinado no adquirido Hypophysenhormon-Mangel, kombinierter, nicht-erworbener Insuffisance hypophysaire non acquise multiple Insuficiência hipofisária anterior familiar Nonacquired combined pituitary hormone deficiency hrdo:pat_id_8682 Variabel Variabile Variable Variable Variable Variable Variável D011081 10038304 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22polychondritis%2C+relapsing%22%5BMeSH+Terms%5D+OR+relapsing+polychondritis%5Bti%5D M94.1 728 72275000 C0032453 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Panchondritis Polychondrite récidivante Policondrite recorrente Policondrite ricorrente Policondritis atrofiante Polychondrite atrophiante Polychondritis atrophicans Relapsing polychondritis hrdo:pat_id_8684 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 123880 neant M89.5 73 1515008 C0029438 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Angiomatose kystique diffuse des os Angiomatosi cistica diffusa delle ossa Angiomatosis quística difusa de hueso Diffuse cystic angiomatosis of bone Doença de Gorham-Stout Enfermedad de Gorham Enfermedad del hueso evanescente Enfermedad del hueso fantasma Essential osteolysis Gorham disease Gorham syndrome Gorham-Osteolyse, massive Gorham-Stout, doença de Gorham-Syndrom Idiopathic massive osteolysis Knochenangiomatose, diffuse zystische Maladie de Gorham Maladie de la disparition des os Maladie des os fantômes Malattia dell'osso che scompare Malattia dell'osso fantasma Malattia di Gorham Massive osteolysis Osteolisi essenziale Osteolisi massiva Osteolisi massiva idiopatica Osteolisi massiva progressiva Osteolyse, essentielle Osteolyse, idiopathische progrediente Osteolyse, massive progressive Osteólise maciça Osteólisis esencial Osteólisis masiva Osteólisis masiva idiopática Osteólisis masiva progresiva Ostéolyse essentielle Ostéolyse idiopathique massive Ostéolyse massive Ostéolyse massive progressive Phantom bone disease Phantomknochen Progressive massive osteolysis Sindrome di Gorham Syndrome de Gorham Síndrome de Gorham Vanishing bone disease Vanishing-Bone-Krankheit Angiomatose quística difusa do osso Enfermedad de Gorham-Stout Gorham-Stout disease Gorham-Stout-Krankheit Maladie de Gorham-Stout Malattia di Gorham-Stout hrdo:pat_id_8685 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 162240 171420 603641 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Neuroendocrine+Tumors+OR+Gastrinoma%5Bmh%5D+OR+Glucagonoma%5Bmh%5D+OR+Insulinoma%5Bmh%5D 877 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown APUDom APUDoma APUDoma APUDome Carcinoid tumor Neuroendocrine tumor Tumeur carcinoïde Tumeur neuroendocrine Tumor, karzinoider Tumor, neuroendokriner Tumore carcinoide Tumore neuroendocrino Endocrine tumor Tumeur endocrine Tumor neuro-endócrino Tumor neuroendocrino Tumor, endokriner Tumore endocrino hrdo:pat_id_8686 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 155240 C536914 10027101 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Medullary+(thyroid+neoplasms+OR+thyroid+cancer%5BTi%5D+OR+thyroid+carcinoma%5Bti%5D) C73 1332 255032005 C0238462 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 MTC MTC MTC MTC Cancer médullaire de la thyroïde Cancro medular da tiroide Carcinoma medular de tiroides Carcinoma midollare della tiroide Medullary thyroid carcinoma Schilddrüsenkarzinom, medulläres hrdo:pat_id_8688 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 132100 132300 226800 613339 613340 D020195 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=reflex+epilepsy%5Btw%5D G40.8 310 79745005 C0270857 group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Epilepsia refleja genética Epilepsia reflexa genética Epilepsie réflexe Epilessia riflessa Reflex epilepsy Reflexepilepsie, genetisch-bedingte hrdo:pat_id_8690 313900 neant D69.4 852 etiological subtype Thrombocytopénie liée à l'X avec plaquettes normales Thrombozytopenie, X-chromosomale, mit normalen Plättchen Trombocitopenia legata all'X con piastrine normali Trombocitopenia ligada al X con plaquetas normales Trombocitopenia ligada ao X X-linked thrombocytopenia with normal platelets hrdo:pat_id_8691 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 613329 neant D68.8 465 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Congenital PAI-1 deficiency Deficit congenito di PAI-1 Déficit congénital en PAI-1 PAI-1-Mangel, kongenitaler Congenital plasminogen activator inhibitor type 1 deficiency Deficit congenito dell'inibitore dell'attivatore del plasminogeno, tipo 1 Deficiência congénita de inibidor 1 do ativador do plasminogénio Déficit congénital en inhibiteur 1 de l'activateur du plasminogène Déficit congénito del inhibidor del activador del plasminógeno de tipo 1 Plasminogen-Aktivator-Inhibitor-1-Mangel, kongenitaler hrdo:pat_id_8692 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Fetal+OR+neonatal%29+%28alloimmune+thrombocytopenia*+OR+Purpura%2C+Thrombocytopenic%2C+Idiopathic%5Bmh%5D%29 P61.0 853 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown NAIT NAIT NAIT NAIT TNAI Alloimmunthrombozytopenie, fetale und neonatale Fetal and neonatal alloimmune thrombocytopenia Thrombopénie materno-foetale et néonatale allo-immune Trombocitopenia alloimmune fetale e neonatale Trombocitopenia aloimune fetal e neo-natal Trombocitopenia aloinmune fetal y neonatal hrdo:pat_id_8693 228960 neant D68.8 483 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Congenital high-molecular-weight kininogen deficiency Deficit congenito di chininogeno ad alto peso molecolare Deficiência congénita de quininogénio de alto peso molecular Déficit congénital en kininogène de haut poids moléculaire Déficit congénito de quininógeno de alto peso molecular Kininogen, hochmolekular, kongenitaler Mangel an hrdo:pat_id_8694 Variabel Variabile Variable Variable Variable Variable Variável 217090 neant 722 95840007 C0398621 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Deficit di plasminogeno, tipo 1 Déficit de plasminógeno, tipo 1 Déficit en plasminogène type 1 Ipoplasminogenemia Plasminogen deficiency type 1 Plasminogen-Mangel Typ 1 Deficit congenito di plasminogeno Deficiência congénita de plasminogénio Déficit congénital en plasminogène Hipoplasminogenemia Hypoplasminogenemia Hypoplasminogenämie hrdo:pat_id_8695 612423 neant D68.8 749 disease Congenital prekallikrein deficiency Deficit congenito di precallicreina Deficiência congénita de precalicreína Déficit congénital en prékallicréine Déficit congénito de precalicreína Präkallikrein-Mangel, kongenitaler hrdo:pat_id_8696 neant D69.1 734 disease Alpha dense granule deficiency Deficit dei granuli alfa e densi Déficit de granulos alfa y densos Enfermedad plaquetaria de depósito vacío Maladie des pools vides Alpha delta granule deficiency Deficit dei granuli alfa e delta Doença no armazenamento intra-plaquetário Déficit de granulos alfa y delta Déficit en granules alpha et delta Storage-Pool-Plättchen-Defekt hrdo:pat_id_8697 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 139090 D055652 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Gray+platelet%5Btw%5D+NOT+GATA1 D69.1 721 51720005 C0272302 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Alpha storage pool deficiency Alpha-Granula-Mangel der Plättchen Alpha-Storage-Pool-Krankheit Deficit dei granuli alfa delle piastrine Deficit del pool di riserva dei granuli alfa Déficit de almacenamiento del pool de gránulos alfa Déficit de gránulos alfa plaquetarios GPS GPS GPS GPS GPS Grey platelet syndrome Platelet alpha-granule deficiency Sindrome plaquetario gris Syndrom der grauen Thrombozyten Thrombozyten-Alpha Granula-Mangel Gray platelet syndrome Gray-platelet-Syndrom Sindrome delle piastrine grigie Syndrome des plaquettes grises Síndrome de plaquetas cinzentas Síndrome de plaquetas grises hrdo:pat_id_8698 10064895 neant Q64.3 105 253902002 C0345345 C1610065 morphological anomaly Atresia da uretra Atresia de la uretra Atresia dell'uretra Atresia of urethra Atresie des Urethers Atrésie de l'urètre hrdo:pat_id_8699 neant Q64.7 237 69015003 C0266348 morphological anomaly Duplicación de la uretra Duplication de l'urètre Duplication of urethra Duplicazione dell'uretra Duplicação da uretra Urethra-Duplikation hrdo:pat_id_870 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 253600 G71.0 267 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Calpainopathie, primäre Calpainopatia primitiva Calpainopatía primaria Calpaïnopathie primaire Distrofia muscular das cinturas autossómica recessiva tipo 2A Distrofia muscular das cinturas por deficiência de calpaina Distrofia muscular de cinturas por déficit de calpaína Distrofia musculare dei cingoli da deficit di calpaina Dystrophie musculaire des ceintures par déficit en calpaïne Gliedergürtelmuskeldystrophie durch Calpain-Mangel LGMD2A LGMD2A LGMD2A LGMD2A LGMD2A Limb girdle muscular dystrophy due to calpain deficiency Primary calpainopathy Autosomal recessive limb girdle muscular dystrophy type 2A Calpainopatia Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2A Distrofia muscular de cinturas autosómica recesiva tipo 2A Dystrophie musculaire des ceintures autosomique récessive type 2A Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2A hrdo:pat_id_8700 Variabel Variabile Variable Variable Variable Variable Variável neant Q62.2 617 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Congenital primary megalo-ureter Megalouretra primitiva congenita Megalouréter primario congénito Congenital primary megaureter Mega-ureter congénito Megaureter, kongenitaler primärer Megauretra primitiva congenita Megauréter primario congénito Méga-uretère primitif congénital hrdo:pat_id_8701 D014496 10065375 Q64.4 488 17234001 C0041915 morphological anomaly Cisti dell'uraco Kyste de l'ouraque Quiste uracal Quísto do úraco Urachal cyst Urachuszyste hrdo:pat_id_8702 neant Q43.0 490 morphological anomaly Cisti onfalo-mesenterica Kyste omphalo-mésentérique Omphalomesenteric cyst Quiste onfalo-mesentérico Quísto onfalo-mesentérico Zyste, omphalomesenterische hrdo:pat_id_8703 Q45.8 238 morphological anomaly Duplicación digestiva Digestive duplication Duplicación entérica Duplication digestive Duplicazione dell'intestino Duplicação digestiva Verdoppelung, gastrointestinale hrdo:pat_id_8705 386 disease Amartoma mesenchimale del fegato HMH Hamartom, heparisches mesenchymales Hamartoma mesenquimal hepático Hamartome mésenchymateux du foie MHL MHL MHL MHL Mesenchymal hamartoma of liver Amartoma cistico epatico Hamartoma hepático quístico Hamartoma quístico hepático Hamartome kystique hépatique Hepatic cystic hamartoma Leberzystenhamartom hrdo:pat_id_8707 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance C536003 neant Q45.3 674 79037006 C0266268 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Accessory pancreas Pancreas accessorio Pancréas accessoire Pankreas, akzessorisches Páncreas accesorio Pâncreas acessório hrdo:pat_id_8708 C536649 neant Q55.5 49 C1387005 morphological anomaly Agénésie du pénis Aphallia Aphallia Agenesia del pene Agenesia do pénis Agenesia peniena Agénésie pénienne Penis agenesis Penisagenesie hrdo:pat_id_8709 neant Q55.6 227 morphological anomaly Difalia Difallia Difallus Diphallia Diphallie Diphallie hrdo:pat_id_871 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 600309 606215 606217 614430 614474 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Complete+atrioventricular%5Btw%5D+AND+%28endocardial+cushion+defect*%5Btw%5D+OR+endocardial+cushion+defects%5Bmh%5D+OR+atrioventricular+canal%5Btw%5D%29 Q21.2 1329 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Atrioventrikulärer Septumdefekt, kompletter CAVC CAVC CAVC CAVC Canal atrioventriculaire commun Canale atrioventricolare comune Common atrioventricular canal Complete atrioventricular septal defect Defaut complet du septum atrioventriculaire Difetto completo del setto atrioventricolare Atrioventrikulärer (AV-) Kanal, kompletter Canal atrioventriculaire complet Canal atrioventricular completo Canal auriculo-ventricular completo Canale atrioventricolare completo Complete atrioventricular canal hrdo:pat_id_8710 neant Q43.3 620 morphological anomaly Common mesentery Masentere comune Mesenterio común Mesenterium commune Mesentério comum Mésentère commun hrdo:pat_id_8711 neant Q06.8 831 disease Congenital narrowing of cervical spinal canal Estenose congénita do canal medular cervical Estenosis congénita de canal espinal cervical Kongenitale Stenose des zervikalen Müller-Ganges Restringimento congenito del canale spinale cervicale Rétrecissement congénital du canal médullaire cervical hrdo:pat_id_8713 788 disease Antivitamin K-Resistenz, hereditäre Hereditary resistance to anti-vitamin K Resistencia hereditaria a anti-vitamina K Resistenza ereditaria all'anti-vitamina K Resistência hereditária a anti-vitamina K Résistance familiale aux anti-vitamines K hrdo:pat_id_8714 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Multifocal+conduction+block+%28motor+neuropathy%5Bti%5D%29 G61.8 641 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Multifocal motor neuropathy with conduction block Neuropathie motrice multifocale avec bloc de conduction Neuropathie, motorische multifokale mit Reizleitungs-Störung Neuropatia motora multifocal com bloqueio de condução Neuropatia motoria con blocco di conduzione Neuropatía motriz multifocal con bloqueo de conducción hrdo:pat_id_8715 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 604286 G71.0 119 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Beta-Sarkoglykanopathie Beta-sarcoglicanopatia Beta-sarcoglycanopathy Béta-sarcoglycanopathie Distrofia muscolare dei cingoli da deficit di beta-sarcoglicano Distrofia muscular das cinturas autossómica recessiva tipo 2E Distrofia muscular das cinturas por deficiência de beta-sarcoglicano Distrofia muscular de cinturas por déficit de beta-sarcoglicano Dystrophie musculaire des ceintures par déficit en bêta-sarcoglycane Gliedergürtelmuskeldystrophie durch beta-Sarkoglykan-Mangel LGMD2E LGMD2E LGMD2E LGMD2E LGMD2E Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency Autosomal recessive limb-girdle muscular dystrophy type 2E Beta-sarcoglicanopatia Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2E Distrofia muscular de cinturas autosómica recesiva tipo 2E Dystrophie musculaire des ceintures autosomique récessive type 2E Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2E hrdo:pat_id_8716 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 253700 G71.0 353 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Distrofia muscolare dei cingoli da deficit di gamma-sarcoglicano Distrofia muscular das cinturas autossómica recessiva tipo 2C Distrofia muscular das cinturas por deficiência de gama-sarcoglicano Distrofia muscular de cinturas por déficit de gamma-sarcoglicano Dystrophie musculaire des ceintures par déficit en gamma-sarcoglycane Gamma-Sarkoglykanopathie Gamma-sarcoglicanopatia Gamma-sarcoglycanopathie Gamma-sarcoglycanopathy Gliedergürtelmuskeldystrophie durch gamma-Sarkoglykan-Mangel LGMD2C LGMD2C LGMD2C LGMD2C LGMD2C Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency Autosomal recessive limb-girdle muscular dystrophy type 2C Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2C Distrofia muscular de cinturas autosómica recesiva tipo 2C Dystrophie musculaire des ceintures autosomique récessive type 2C Gama-sarcoglicanopatia Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2C hrdo:pat_id_8717 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 601287 G71.0 219 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Delta-Sarkoglykanopathie Delta-sarcoglicanopatia Delta-sarcoglycanopathie Delta-sarcoglycanopathy Distrofia muscolare dei cingoli da deficit di delta-sarcoglicano Distrofia muscular das cinturas autossómica recessiva tipo 2F Distrofia muscular das cinturas por deficiência de delta-sarcoglicano Distrofia muscular de cinturas por déficit de delta-sarcoglicano Dystrophie musculaire des ceintures par déficit en delta-sarcoglycane Gliedergürtelmuskeldystrophie durch delta-Sarkoglykan-Mangel LGMD2F LGMD2F LGMD2F LGMD2F LGMD2F Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency Autosomal recessive limb-girdle muscular dystrophy type 2F Delta-sarcoglicanopatia Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2F Distrofia muscular de cinturas autosómica recesiva tipo 2F Dystrophie musculaire des ceintures autosomique récessive type 2F Gliedergürtelmuskeldystrophie, autosomal-rezessive, Typ 2F hrdo:pat_id_8718 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 159000 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(muscular+dystroph*%5Bti%5D+OR+Muscular+dystrophy%5BTW%5D+OR+muscular+dystrophies%5BMH%5D)+(Dystrophy+1A%5Btw%5D)+OR+LGMD1A%5Btw%5D G71.0 266 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Distrofia muscolare dei cingoli da deficit di miotilina Distrofia muscular das cinturas por deficiência de miotilina Distrofia muscular de cinturas por déficit de miotilina Dystrophie musculaire des ceintures par déficit en myotiline Gliedergürtelmuskeldystrophie durch Myotilin-Mangel LGMD1A LGMD1A LGMD1A LGMD1A LGMD1A Limb-girdle muscular dystrophy due to myotilin deficiency Autosomal dominant limb-girdle muscular dystrophy type 1A Distrofia muscolare dei cingoli, autosomica dominante, tipo 1A Distrofia muscular das cinturas autossómica dominante tipo 1A Distrofia muscular de cinturas autosómica dominante tipo 1A Dystrophie musculaire des ceintures autosomique dominante type 1A Gliedergürtelmuskeldystrophie, autosomal-dominante, Typ 1A hrdo:pat_id_8719 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 159001 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(muscular+dystroph*%5Bti%5D+OR+muscular+dystrophies%5BMH%5D)+(IB%5Btw%5D+OR+1B%5Btw%5D)+OR+LGMD1B%5Btw%5D G71.0 264 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Distrofia muscolare dei cingoli da deficit di lamina A/C Distrofia muscular das cinturas por deficiência de lamina A/C Distrofia muscular de cinturas por déficit de lamina A/C Dystrophie musculaire des ceintures par déficit en lamine A/C Gliedergürtelmuskeldystrophie durch Lamin A/C -Mangel LGMD1B LGMD1B LGMD1B LGMD1B LGMD1B Limb-girdle muscular dystrophy due to lamin A/C deficiency Autosomal dominant limb-girdle muscular dystrophy type 1B Distrofia muscolare dei cingoli, autosomica dominante, tipo 1B Distrofia muscular das cinturas autossómica dominante tipo 1B Distrofia muscular de cinturas autosómica dominante tipo 1B Dystrophie musculaire des ceintures autosomique dominante type 1B Gliedergürtelmuskeldystrophie, autosomal-dominante, Typ 1B hrdo:pat_id_872 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 252300 253000 253010 D009085 10028095 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=mucopolysaccharidosis+iv%5Bmajr%5D E76.2 582 130197005 378007 7259005 C0026707 C0086651 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Beta-Galaktosidase-Mangel Galaktosamin-6-Sulfatase-Mangel Maladie de Morquio Malattia di Morquio Morquio disease Morquio-Krankheit Mucopolisacaridosis tipo 4 Mucopolisaccaridosi, tipo IV Mucopolissacaridose tipo 4 (MPS4) Mucopolysaccharidose type 4 Mucopolysaccharidosis type 4 Mukopolysaccharidose Typ 4 hrdo:pat_id_8720 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 253601 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%28muscular+dystroph*%5Btw%5D+OR+muscular+dystrophies%5Bmh%5D%29+%28IIb%5Btw%5D+OR+2b%5Btw%5D%29%29+OR+LGMD2B%5Btw%5D G71.0 268 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Disferlinopatia Distrofia muscolare dei cingoli da deficit di disferlina Distrofia muscular das cinturas por deficiência de disferlina Distrofia muscular de cinturas por déficit de disferlina Dysferlinopathie Dystrophie musculaire des ceintures par déficit en dysferline Gliedergürtelmuskeldystrophie durch Dysferlin-Mangel LGMD2B LGMD2B LGMD2B LGMD2B LGMD2B Limb-girdle muscular dystrophy due to dysferlin deficiency Autosomal recessive limb-girdle muscular dystrophy type 2B Distrofia muscolare dei cingoli, autosomica recessiva, tipo 2B Distrofia muscular das cinturas autossómica recessiva tipo 2B Distrofia muscular de cinturas autosómica recesiva tipo 2B Dystrophie musculaire des ceintures autosomique récessive type 2B Gliedergürtelmuskeldystrophie, autosomal-dominante, Typ 2B hrdo:pat_id_8721 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 607801 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(muscular+dystroph*%5Bti%5D+OR+muscular+dystrophies%5BMH%5D)+(Ic%5Btw%5D+OR+1c%5Btw%5D)+OR+LGMD1c%5Btw%5D G71.0 265 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Distrofia muscolare dei cingoli da deficit di caveolina-3 Distrofia muscular das cinturas por deficiência de caveolina-3 Distrofia muscular de cinturas por déficit de caveolina-3 Dystrophie musculaire des ceintures par déficit en cavéoline-3 Gliedergürtelmuskeldystrophie durch Calveolin-3 -Mangel LGMD1C LGMD1C LGMD1C LGMD1C LGMD1C Limb-girdle muscular dystrophy due to caveolin-3 deficiency Autosomal dominant limb-girdle muscular dystrophy type 1C Distrofia muscolare dei cingoli, autosomica dominante, tipo 1C Distrofia muscular das cinturas autossómica dominante tipo 1C Distrofia muscular de cinturas autosómica dominante tipo 1C Dystrophie musculaire des ceintures autosomique dominante type 1C Gliedergürtelmuskeldystrophie, autosomal-dominante, Typ 1C hrdo:pat_id_8724 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 253800 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28muscular+dystrophies%5Bti%5D+OR+Muscular+dystrophy%5Bti%5D+OR+muscular+dystrophies%5Bmh%5D%29+fukuyama%5Btw%5D G71.2 Q04.3 272 111502003 C0410174 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Distrofia muscolare congenita di Fukuyama Distrofia muscular congénita de Fukuyama FCMD FCMD FCMD FCMD Fukuyama congenital muscular dystrophy Congenital muscular dystrophy, Fukuyama type Distrofia muscolare congenita, tipo Fukuyama Distrofia muscular congénita, tipo Fukuyama Distrofia muscular tipo Fukuyama Dystrophie musculaire congénitale type Fukuyama Muskeldystrophie Typ Fukuyama hrdo:pat_id_8725 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 236670 253280 253800 613150 613153 613154 614643 614830 615041 615181 615249 D058494 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Walker-warburg%5Btw%5D+AND+%28%22syndrome%22%5BMeSH+Terms%5D+OR+syndrome%5BTW%5D%29 G71.2 Q04.3 899 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 HARD syndrome HARD, síndrome (hidrocefalia - agiria - displasia da retina) HARD-Syndrom (Hydrozephalus - Agyrie - Retinadysplasie) Hidrocefalia - agiria - displasia retiniana Hydrocephalus - agyria - retinal dysplasia Hydrocephalus-agyria-retinal dysplasia syndrome Hydrocéphalie - agyrie - dysplasie rétinienne Idrocefalo - agiria -displasia retinica Sindrome HARD Sindrome idrocefalo-agiria-displasia retinica Syndrome HARD Síndrome HARD Síndrome HARD (hidrocefalia - agiria - displasia da retina) Síndrome de hidrocefalia - agiria - displasia retiniana WWS WWS Sindrome di Walker-Warburg Syndrome de Walker-Warburg Síndrome de Walker-Warburg Síndrome de Walker-Warburg Walker-Warburg syndrome Walker-Warburg-Syndrom hrdo:pat_id_8726 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 236670 253280 613150 613153 613154 615181 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Muscle+eye+brain+disease%5Btw%5D+OR+%28%22muscular+dystrophies%22%5BMH%5D+AND+%28Muscle+eye+brain%5Btw%5D+OR+meb%5Btw%5D%29%29 G71.2 Q04.3 588 277950001 C0457133 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Doença de Santavuori Dystrophie musculaire congénitale de Santavuori Enfermedad de Santavuori MEB (Muscle-Eye-Brain)-Syndrom MEB syndrome MEB, síndrome Malattia di Santavuori Muscle-Eye-Brain syndrome Santavuori congenital muscular dystrophy Santavuori, doença de Santavuori-Krankheit Sindrome MEB Sindrome muscolo-occhio-cervello Syndrome MEB Syndrome Muscle-Eye-Brain Síndrome MEB Síndrome MEB Síndrome de músculo-ojo-cerebro Doença músculo-olho-cérebro Enfermedad de músculo-ojo-cerebro Malattia muscolo-occhio-cervello Muscle eye brain disease Muskel-Augen-Gehirn-Krankheit Syndrome muscle-oeil-cerveau hrdo:pat_id_8727 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 604454 C536690 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%22muscular+dystrophy%22%5BTw%5D+OR+distal+myopathy%5Btw%5D+OR+%22muscular+dystrophies%22%5BMH%5D%29+AND+Welander%5BTW%5D G71.0 603 C2931290 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Distal myopathy, Swedish type Myopathie distale type suédois Myopathie, distale, Schwedischer Typ Distal myopathy, Welander type Miopatia distal de Welander Miopatia distale, tipo Welander Miopatía distal de tipo Welander, tipo sueco Myopathie distale type Welander Myopathie, distale, Typ Welander hrdo:pat_id_8729 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 600737 605820 C536816 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=inclusion+body+myopathy%5Bti%5D+OR+Myositis,+Inclusion+Body%5Bmh%5D+OR+((myopathy%5Bti%5D+OR+muscular+dystrophies%5Bmh%5D)+nonaka%5Btw%5D) G71.8 602 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Distal myopathy with rimmed vacuoles Einschlusskörperchenmyopathie Typ 2 (IBM2) Einschlusskörperchenmyopathie, hereditäre HIBM2 HIBM2 HIBM2 Hereditary inclusion body myopathy type 2 IBM2 IBM2 IBM2 Inclusion body myopathy type 2 Miopatia che risparmia i quadricipiti Miopatia com corpos de inclusão tipo 2 Miopatia com corpos de inclusão, hereditária Miopatia da corpi inclusi, tipo 2 Miopatia de Nonaka Miopatia di Nonaka Miopatia distal com vacúolos bordejados Miopatia distale con vacuoli orlati Miopatia ereditaria da corpi inclusi Miopatia que poupa os quadriceps Miopatía con cuerpos de inclusión, tipo 2 Miopatía de Nonaka Miopatía distal con vacuolas ribeteadas Miopatía hereditaria con cuerpos de inclusión tipo 2 Miopatía sin afectación del cuadriceps Myopathie de Nonaka Myopathie distale à vacuoles bordées Myopathie à corps d'inclusion héréditaire type 2 Myopathie à corps d'inclusion type 2 Myopathie à inclusions héréditaire type 2 Myopathie à inclusions type 2 Myopathie épargnant le quadriceps Myopathie, distale, mit intrazytoplasmatischen Einschlüssen Nonaka myopathy Nonaka-Myopathie Quadriceps-sparing myopathy Distal myopathy, Nonaka type Miopatia distal tipo Nonaka Miopatia distale, tipo Nonaka Miopatía distal, tipo Nonaka Myopathie distale type Nonaka Myopathie, distale, Typ Nonaka hrdo:pat_id_873 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22hepatitis%2C+autoimmune%22%5BMeSH+Terms%5D+OR+Autoimmune+hepatitis%5BText+Word%5D K75.4 2137 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Autoimmune hepatitis Epatite autoimmune Hepatitis autoinmune Hepatitis, autoimmune Hépatite auto-immune Chronic autoimmune hepatitis Epatite cronica autoimmune Hepatite crónica autoimune Hepatitis crónica autoinmune Hepatitis, autoimmune chronische Hépatite chronique auto-immune hrdo:pat_id_8730 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 600334 C536815 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(tibia%5Bmh%5D+OR+tibial%5Btiab%5D+OR+UDD%5Btiab%5D)+(muscular+dytrophy%5BTw%5D+OR+muscular+dystrophies%5Bmh%3Anoexp%5D+OR+Distal+Myopath*%5Btw%5D) G71.0 609 C1838244 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Distal myopathy, Markesbery-Griggs type Distal myopathy, Udd type Distale Myopathie nach Udd Dystrophie musculaire tibiale tardive Miopatia distale di Udd Miopatia tibial de Udd Myopathie distale type Markesbery-Griggs Myopathie distale type Udd Tardive tibial muscular dystrophy Distrofia muscolare della tibia Distrofia muscular tibial Dystrophie musculaire tibiale Miopatía tibial de Udd Muskeldystrophie, tibiale Tibial muscular dystrophy hrdo:pat_id_8731 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 606070 neant G71.0 600 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Distal myopathy with vocal cord weakness Miopatia distal com fraqueza das cordas vocais Miopatia distale con debolezza delle corde vocali Miopatía distal con debilidad de cuerdas vocales Myopathie distale avec faiblesse des cordes vocales Myopathie, distale, mit Stimmbandschwäche hrdo:pat_id_8734 Variabel Variabile Variable Variable Variable Variable Variável D049288 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=muscular+dystrophy%5Bmajr%5D+AND+limb*girdle%5Btw%5D+NOT+sarcoglycan%5Btw%5D G71.0 263 93153005 C0686353 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo group of phenomes 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 LGMD LGMD LGMD LGMD LGMD Distrofia muscolare dei cingoli Distrofia muscular das cinturas (termo genérico) Distrofia muscular de cinturas Dystrophie musculaire des ceintures Gliedergürtelmuskeldystrophie Limb-girdle muscular dystrophy hrdo:pat_id_8735 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Corticobasal+degeneration%5Bti%5D G31.0 278 18842008 C0393570 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Corticobasal degeneration Degeneración cortico-basal Degeneration, kortiko-basale Degenerazione corticobasale Degenerescência cortico-basal Dégénérescence cortico-basale hrdo:pat_id_8736 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28electrical+status+epilepticus%5Btw%5D+sleep%29+OR+Landau+kleffner%5Btw%5D+OR+Landau+kleffner+syndrome%5Bmh%5D F80.3 725 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CSWS-Syndrom CSWSS syndrome EPOCS Epilepsie avec pointes-ondes continues du sommeil Sindrome CSWSS Syndrome CSWSS Syndrome POCS Síndrome CSWSS Continuous spike-wave during slow sleep syndrome Epilepsie mit kontinuierlichen Spike-Wave-Entladungen im Schlaf Sindrome delle punte-onde continue durante il sonno Syndrome des pointes-ondes continues du sommeil Síndrome de punta-onda contínua durante el sueño Síndrome ondas potiagudas contínuas durante a fase de sono lento hrdo:pat_id_8737 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 254190 254210 254300 601462 603034 605809 608930 608931 610542 614750 D020294 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=congenital+myasthenic+syndrome%5Btw%5D+OR+myasthenic+syndromes,+congenital+OR+(myasthenia+gravis%2Fcn+(1970%5BPDAT%5D+%3A+1999%5BPDAT%5D)) G70.2 590 C0751882 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Congenital myasthenic syndromes Myasthenische Syndrome, kongenitale Sindromi miasteniche congenite Syndromes myasthéniques congénitaux Síndromes miasténicos congénitos Síndromes miasténicos congénitos hrdo:pat_id_8738 Variabel Variabile Variable Variable Variable Variable Variável 605635 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hyperaldosteronism+type+II%5Btw%5D E26.0 404 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Adenoma supra-renal familiar Adenoma suprarenal familiar Adenoma suprarrenal familiar Adenoma surrenale familiare Adénome surrénalien familial FH2 Familial adrenal adenoma Nebennierenrindenadenom , familiäres Familial hyperaldosteronism type 2 Hiperaldosteronismo familiar tipo 2 Hiperaldosteronismo tipo 2 familiar Hyperaldosteronismus, familiärer, Typ 2 Hyperaldostéronisme familial type 2 Iperaldosteronismo familiare, tipo 2 hrdo:pat_id_8739 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance D011546 neant N25.8 756 43941006 C0268436 C1449843 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 PHA Typ 1 PHA tipo 1 PHA type 1 PHA type 1 PHA, tipo 1 Pseudo-hipoaldosteronismo tipo 1 Pseudohipoaldosteronismo tipo 1 Pseudohypoaldosteronism type 1 Pseudohypoaldosteronismus Typ 1 Pseudohypoaldostéronisme type 1 Pseudoipoaldosteronismo, tipo 1 hrdo:pat_id_874 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 109720 613007 613008 614220 614221 10004661 10019137 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Primary+biliary+cirrhosis%5BTi%5D+OR+%28%22liver+cirrhosis%2C+biliary%22%5BMeSH+Major+Topic%5D+AND+primary%5Btw%5D%29 K74.3 186 31712002 C0008312 C0859942 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Hanot syndrome Hanot, síndrome de Hanot-Zirrhose Sindrome di Hanot Syndrome de Hanot Síndrome de Hanot Síndrome de Hanot Cirrhose biliaire primitive Cirrose biliar primária Cirrosi biliare primitiva Cirrosis biliar primaria Primary biliary cirrhosis Zirrhose, biliäre primäre hrdo:pat_id_8740 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 218030 C537422 D043204 neant E26.1 320 237770005 C0342488 C2936861 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 11-beta-Hydroxysteroid-Dehydrogenase-Mangel Typ 2 11-beta-hidroxiesteroide desidrogenase tipo 2, deficiência de 11-beta-hydroxysteroid dehydrogenase deficiency type 2 Deficiencia de 11-beta-hidroxiesteroide-deshidrogenasa Deficit di 11-beta-idrossisteroido deidrogenasi, tipo 2 Deficiência de 11-beta-hidroxiesteroide desidrogenase tipo 2 Déficit en 11-bêta-hydroxystéroïde déshydogénase type 2 Hipocalémia hipertensiva recessiva Sindrome di Ulick Syndrome d'Ulick Síndrome de Ulick Síndrome de Ulick Ulick syndrome Ulick, síndrome de Ulick-Syndrom Apparent mineralocorticoid excess Apparenter Mineralocorticoid Exzess Eccesso apparente di mineralcorticoidi Exceso aparente de mineralocorticoides Excesso aparente de mineralocorticóides Excès apparent de minéralocorticoïdes hrdo:pat_id_8741 Variabel Variabile Variable Variable Variable Variable Variável neant J82 724 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Idiopathic acute eosinophilic pneumonia Neumopatía aguda idiopática eosinofílica Pneumonia eosinofílica aguda idiopática Pneumonie à éosinophiles idiopathique aiguë Pneumonie, eosinophile, idiopathische, akute Polmonite acuta idiopatica con eosinofili hrdo:pat_id_8743 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 223360 C535600 neant G90.8 230 237923004 C0342687 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficit di noradrenalina (norepinefrina) Deficiência de noradrenalina (norepinefrina) Déficit en noradrénaline Déficit en norépinéphrine Noradrenalin-Mangel Noradrenalina (norepinefrina), deficiência de Noradrenaline deficiency Norepinephrine deficiency Deficit di dopamina beta-idrossilasi Deficiência de doapmina beta-hidroxilase Dopamin-beta-Hydroxylase (DBH)-Mangel Dopamine beta-hydroxylase deficiency Déficit de dopamina beta-hidroxilasa Déficit en dopamine bêta-hydroxylase hrdo:pat_id_8744 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 146500 D019578 10064060 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Multiple+System+Atrophy%5Bti%5D+OR+Multiple+System+Atrophy%5Bmh%3Anoexp%5D G90.3 102 230297002 C0393571 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 AMS AMS MSA MSA MSA Multisystematrophie Sindrome Parkinson plus Atrofia multisistemica Atrofia multisistémica Atrofia sistémica múltipla Atrophie multisystématisée Multiple Systematrophie Multiple system atrophy hrdo:pat_id_8745 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 254450 neant D47.4 824 disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Agnogenic myeloid metaplasia Idiopathic myelofibrosis Metaplasia mieloide agnogenica Metaplasia mieloide agnogénica Mieloesclerosis con metaplasia mieloide Mielofibrose idiopática Mielofibrosi idiopatica Mielofibrosis idiopática Mielosclerosi associata a metaplasia mieloide Mielosclerosis con metaplasia mieloide Myelofibrose, chronische idiopathische Myelofibrose, idiopathische Myelosclerosis with myeloid metaplasia Myelosklerose mit myeloischer Metaplasie Myélofibrose idiopathique Myélosclérose avec métaplasie myéloïde Mielofibrose com metaplasia mielóide Mielofibrosi con metaplasia mieloide Mielofibrosis con metaplasia mieloide Myelofibrose mit myeloischer Metaplasie Myelofibrosis with myeloid metaplasia Splénomégalie myéloïde hrdo:pat_id_8746 Variabel Variabile Variable Variable Variable Variable Variável 209950 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28susceptibility%5Bti%5D+mycobacteri*%5Bti%5D%29+Mycobacterium+Infections+NOT+%28tuberculosis+OR+leprosy+OR+paratuberculosis%29 A31.9 748 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Empfänglichkeit für Infektionen durch atypische Mykobakterien Idiopathic infection caused by BCG or atypical mycobacteria Idiopathische Infektionen durch BCG oder atypische Mykobakterien Infección idiopática por BCG o micobacterias atípicas Infection idiopathique par le BCG ou les mycobactéries atypiques Infecção idiopática provocada por BCG ou micobactérias atípicas Infezione idiopatia causata da BCG o micobatteri atipici Infeção idiopática provocada por BCG ou micobactérias atípicas MSMD MSMD MSMD MSMD MSMD Mendelian susceptibility to atypical mycobacteria Mendelian susceptibility to mycobacterial infections Susceptibilidad mendeliana a infecciones micobacterianas Susceptibilidad mendeliana a micobacterias atípicas Suscettibilità mendeliana ai micobatteri atipici Suscettibilità mendeliana alle infezioni micobatteriche Mendelian susceptibility to mycobacterial diseases Prédisposition mendélienne aux infections mycobactériennes Susceptibilidad mendeliana a enfermedades micobacterianas Suscetibilidade mendeliana a micobactérias atípicas Suscettibilità mendeliana alle malattie micobatteriche Suszeptivität für Mykobakteriosen, familiäre Form hrdo:pat_id_8747 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 263300 D011087 10036057 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=polycythemia+vera%5BText+Word%5D+OR+polycythaemia+vera%5BText+Word%5D+OR+%22polycythemia+vera%22%5BMeSH+Terms%5D D45 729 109992005 128841001 C0032463 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Acquired primary erythocytosis Enfermedad de Osler-Vaquez Enfermedad de Vaquez Eritremia Eritremia Eritrocitosi primitiva acquisita Eritrocitosis primaria adquirida Erythremia Erythrocytose primitive acquise Erythrozytose, erworbene primäre Erythrämie Erythrémie Maladie d'Osler-Vaquez Maladie de Vaquez Malattia di Osler-Vaquez Malattia di Vaquez Osler-Vaquez disease Osler-Vaquez-Syndrom PV PV PV PV Policitemia rubra vera Policitemia rubra vera Polycythaemia rubra vera Polycythemia rubra vera Polycythémie rubra vera Polycythémie vraie Polyglobulie essentielle Vaquez disease Vaquez-Krankheit Policitemia vera Policitemia vera Policitemia vera Polycythemia vera Polycythämia vera Polyglobulie de Vaquez hrdo:pat_id_8748 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28cataract/cn%5Bmajr%5D+OR+cataract/ge%5Bmajr%5D%29+%28posterior+polar%5Btw%5D%29+OR+%28congenital+cataract*%5Btw%5D+pitx3%29 Q12.0 162 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cataract-glaucoma Cataracte - glaucome Catarata - glaucoma Cataratas-glaucoma Cataratta - glaucoma Katarakt - Glaukom hrdo:pat_id_8749 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D016403 10012818 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Lymphoma,+Large+B-Cell,+Diffuse+OR+large+B+cell+lymphoma*%5Btw%5D+diffuse C83.3 544 109969005 46732000 C0079744 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 DLBCL DLBCL DLBCL DLBCL DLBCL LDCBG LDGC B-Zell-Lymphom, diffuses großzelliges Diffuse large B-cell lymphoma Linfoma diffuso a grandi cellule B Linfoma difuso de células B grandes Linfoma difuso de células B grandes Lymphome B diffus à grandes cellules hrdo:pat_id_875 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 207950 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28chiari%5Bti%5D+AND+malformation%5BTi%5D+NOT+Medline%5BSB%5D%29+OR+arnold-chiari+malformation%5BMajr%5D Q07.0 1136 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch morphological anomaly Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Arnold-Chiari malformation type 2 Chiari malformation type 2 Chiari malformation type II Chiari-Malfromation Typ 2 Malformación de Arnold-Chiari tipo 2 Malformación de Chiari tipo 2 Malformación de Chiari tipo II Malformation d'Arnold-Chiari type 2 Malformation de Chiari type 2 Malformation de Chiari type II Malformazione di Arnold-Chiari, tipo 2 Malformazione di Chiari, tipo 2 Malformazione di Chiari, tipo II Arnold-Chiari malformation type II Arnold-Chiari-Fehlbildung Typ II Malformación de Arnold-Chiari tipo II Malformation d'Arnold-Chiari type II Malformazione di Arnold-Chiari, tipo II Malformação de Arnold-Chiari hrdo:pat_id_8750 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 613024 D008224 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=follicular+lymphoma%5Bti%5D+OR+lymphoma%2C+follicular%5Bmh%5D C82 545 277618009 308121000 55150002 C0024301 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Follicular lymphoma Linfoma folicular Linfoma folicular Linfoma follicolare Lymphom, follikuläres Lymphome folliculaire hrdo:pat_id_8751 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 609135 614742 614743 C538494 neant D61.0 88 191256002 C0348890 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Bone marrow failure Fallo de la medula ósea Knochenmarkaplasie Aplasia medular idiopática Aplasia midollare Aplasie médullaire idiopathique Aplastische Anämie, idiopathische Falência da medula óssea Idiopathic aplastic anemia hrdo:pat_id_8754 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 605249 C537531 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=sebastian%5Btw%5D+AND+thrombocytopenia D69.4 807 C1854520 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Macrothrombocytopenia with leukocyte inclusions Macrothrombocytopénie à inclusions leucocytaires Macrotrombocitopenia com inclusões leucocitárias Macrotrombocitopenia con inclusioni leucocitarie Makrothrombozytopenie mit leukozytären Einschlüssen Sebastian syndrome Sebastian-Syndrom Sindrome di Sebastian Syndrome de Sebastian Síndrome de Sebastian Síndrome de Sebastian hrdo:pat_id_8755 132090 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Epilepsies,+Partial%5Bmh%5D+occipital+OR+occipital+epilepsy%5Btw%5D)+benign G40.0 25968 C1851549 disease Benign occipital epilepsy Epilepsia occipital benigna Epilepsia occipital benigna Epilepsie à pointes occipitales Epilepsie, benigne okzipitale Epilessia benigna occipitale hrdo:pat_id_8756 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 310440 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=x-linked+Myopathy+excessive+autophagy G71.8 25980 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Miopatia vacuolar Miopatia vacuolare Miopatía vacuolar Myopathie vacuolaire Vacuolar myopathy XMEA XMEA Miopatia con autofagia eccessiva Miopatia ligada ao X com autofagia excessiva Miopatía con autofagia excesiva Myopathie avec autophagie excessive liée à l'X Myopathie mit exzessiver Autophagie, X-chromosomal X-linked myopathy with excessive autophagy hrdo:pat_id_8758 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 137215 neant C16 26106 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cancer familial de l'estomac Cancro do estómago, familiar Cancro do estômago, familiar Cancro familiare dello stomaco Familial stomach cancer Cancer gastrique familial Cancro gastrico familiare Cancro gástrico familiar Cáncer familiar de estómago Familial gastric cancer Magenkarzinom, familiäres hrdo:pat_id_8759 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=juvenile+temporal+arteritis%5BText+Word%5D L95.8 26137 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Arteriris temporal granulomatosa de células no gigantes con eosinofilia Arterite temporal granulomatosa de células não-gigantes com eosinofilia Arterite temporale granulomatosa non a cellule giganti con eosinofilia Artérite temporale granulomateuse éosinophilique sans cellules géantes Non-giant cell granulomatous temporal arteritis with eosinophilia Temporalarteriitis, granulomatöse, mit Eosinophilie, nicht Riesenzelltyp Arteriitis temporalis, juvenile Arteriris temporal juvenil Arterite temporal juvenil Arterite temporale giovanile Artérite temporale juvénile Juvenile temporal arteritis hrdo:pat_id_876 Normal Normal Normal Normal Normal Normal Normale Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 187360 D013700 10018250 10043207 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=temporal+arteritis%5Bti%5D+OR+temporal+arteritis%5Bmh%5D+OR+Giant+cell+arteritis%5Bti%5D+OR+Horton+Disease%5Bti%5D M31.6 397 400130008 414341000 C0039483 C1956391 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Arterite temporal Arterite temporale Arteritis temporal Artérite temporale Doença de Horton Enfermedad de Horton Horton disease Horton, doença de Maladie de Horton Malattia di Horton Temporal arteritis Arterite a cellule giganti Arterite de células gigantes Arteritis de células gigantes Artérite à cellules géantes Giant cell arteritis Riesenzell-Arteriitis hrdo:pat_id_8761 neant D68.4 26348 disease Acquired hypoprothrombinemia Hipoprotrombinemia adquirida Hypoprothrombinämie, erworbene Hypoprothrombinémie acquise Ipoprotrombinemia acquisita Prothrombin-Mangel, erworbener Acquired prothrombin deficiency Deficit acquisito del fattore II Deficiência adquirida de protrombina Déficit acquis en facteur II Déficit adquirido de factor II Faktor II-Mangel, erworbener hrdo:pat_id_8762 612336 10068370 neant D68.8 26349 C2363755 disease Deficit acquisito di proteina S Deficiência adquirida de proteína S Déficit acquis en protéine S Déficit adquirido de proteina S Protein S acquired deficiency Protein-S-Mangel, erworbener hrdo:pat_id_8765 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta D011553 10037138 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=pseudomyxoma+peritonei%5Bmh%5D+OR+Pseudomyxoma+peritonei%5Bti%5D C78.6 26790 112679004 307601000 C0033822 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Adenomucinosi Adenomucinosis Adenomucinosis Adenomuzinose Ascite gelatinosa Ascite gelatinosa Ascite gélatineuse Ascitis gelatinosa Aszites, gallertiger Gelatinous ascites PMP PMP PMP PMP PMP Pseudomyxome péritonéal Maladie gélatineuse du péritoine Pseudo-mixoma do peritoneu Pseudomixoma del peritoneo Pseudomixoma peritoneal Pseudomyxoma peritonei Pseudomyxoma peritonei hrdo:pat_id_8766 Variabel Variabile Variable Variable Variable Variable Variável 231680 neant E71.3 26791 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Acidemia glutarica, tipo 2 Aciduria glutarica, tipo 2 Aciduria glutárica tipo 2 Acidurie glutarique type 2 Acidúria glutárica tipo 2 Acyl-CoA-Dehydrogenase-Mangel, multipler Deficiencia de flavoproteína de transferencia de electrones Deficiencia de la flavoproteina ubiquinona oxidoreductasa transportadora de electrones Deficit di ETFA Deficit di ETFB Deficit di ETFDH Deficit di MAD Deficit di flavoproteina trasportatrice di elettroni Deficit di flavoproteina trasportatrice di elettroni ubichinone ossidoreduttasi Deficit multiplo di FAD deidrogenasi Deficit multiplo di acil-CoA deidrogenasi Deficiência de flavoproteína de transferência de eletrões Deficiência de flavoproteína de transferência de eletrões ubiquinona oxidorredutase Déficit de ETFA Déficit de ETFB Déficit de ETFDH Déficit de MAD Déficit en ETFA Déficit en ETFB Déficit en ETFDH Déficit en MAD Déficit en multiple acyl-CoA déshydrogenase Déficit en électron transfer flavoprotéine Déficit en électron transfer flavoprotéine ubiquinone oxydoréductase Déficit multiple des déshydrogénases à FAD Déficit múltiple de FAD deshidrogenasa Déficit múltiple de acil-CoA deshidrogenasa ETFA deficiency ETFA-Mangel ETFB deficiency ETFB-Mangel ETFDH deficiency ETFDH-Mangel Electron transfer flavoprotein deficiency Electron transfer flavoprotein ubiquinone oxidoreductase deficiency FAD-Dehydrogenase-Mangel, multipler Flavoproteína de transferência de electrões ubiquinona oxidorredutase, deficiência de Flavoproteína de transferência de electrões, deficiência de Glutarazidurie Typ 2 Glutarazidämie Typ 2 Glutaric aciduria type 2 MAD deficiency MAD-Mangel MADD MADD MADD MADD MADD Multiple FAD dehydrogenase deficiency Multiple acyl-CoA dehydrogenase deficiency Störung des Elektronentransportes durch Mangel an Flavoprotein Störung des Elektronentransportes durch Mangel an Flavoprotein-Ubiquinon-Oxidoreduktase Acidemia glutarica, tipo 2 Acidemia glutárica tipo 2 Acidémie glutarique type 2 Acyl-CoA-Dehydrogenase-Mangel, multipler Deficiência múltipla na desidrogenação de acil-CoA Glutaric acidemia type 2 hrdo:pat_id_8767 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 201470 C537596 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=(Butyryl+CoA+Dehydrogenase%2Fdf%5Bmh%5D+OR+SCAD+deficiency%5BTw%5D+OR+(SHORT+CHAIN%5Btw%5D+ACYL+CoA+Dehydrogenase+deficiency%5BTw%5D))+(humans+OR+patient) E71.3 26792 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Deficiencia de SCAD Deficiencia de acil-CoA deshidrogenasa de cadena corta Deficit di SCAD Deficiência de SCAD Déficit de SCAD Déficit en SCAD SCAD deficiency SCAD, deficiência de SCADD SCADD SCADD SCADD Deficit di acil-CoA deidrogenasi a catena corta Deficiência de acil-CoA desidrogenase de cadeias curtas Déficit de acil-CoA deshidrogenasa de cadena corta Déficit en acyl-CoA déshydrogénase à chaînes courtes Kurzketten-Acyl-CoA-Dehydrogenase-Mangel Short chain acyl-CoA dehydrogenase deficiency hrdo:pat_id_8768 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 201475 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=acyl-coa+dehydrogenase,+long-chain%2Fdf+OR+(deficiency+(acyl+coa+dehydrogenase%5Btw%5D+(vla+OR+%22long+chain%22))) E71.3 26793 237997005 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Acyl-CoA-Dehydrogenase-Mangel, sehr langkettige Deficiencia de VLCAD Deficiencia de acil-CoA deshidrogenasa de cadena muy larga Deficit di VLCAD Deficiência de VLCAD Déficit de VLCAD Déficit en VLCAD VLCAD deficiency VLCAD, deficiência de VLCADD VLCADD VLCADD VLCADD Deficit di acil-CoA deidrogenasi a catena molto lunga Deficiência de acil-CoA desidrogenase de cadeias muito longas Déficit de acil-CoA deshidrogenasa de cadena muy larga Déficit en acyl-CoA déshydrogénase des acides gras à chaînes très longues Sehr-langkettige-Acyl-CoA-Dehydrogenase-Mangel Very long chain acyl-CoA dehydrogenase deficiency hrdo:pat_id_877 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável G61.8 2932 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 CIDP CIDP CIDP CIDP Chronic inflammatory demyelinating polyradiculoneuropathy Chronische demyelinisierende inflammatorische Polyradikuloneuropathie Poliradiculoneuropatia demielinizzante infiammatoria cronica Polirradiculoneuropatía desmielinizante inflamatoria crónica Polyneuropathie, chronische demyelinisierende inflammatorische Chronic inflammatory demyelinating polyneuropathy Chronisch inflammatorische demyelinisierende Polyradikuloneuropathie Polineuropatia demielinizzante infiammatoria cronica Polineuropatia desmielinizante inflamatória crónica Polineuropatía desmielinizante inflamatoria crónica Polyradiculonévrite inflammatoire démyélinisante chronique hrdo:pat_id_8770 Normal Normal Normal Normal Normal Normal Normale Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 600510 10052134 26823 392133001 C1271398 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Pigment-Dispersions-Syndrom Pigment-dispersion syndrome Sindrome da dispersione del pigmento Syndrome de dispersion pigmentaire Síndrome de dispersión pigmentaria Síndrome de dispersão do pigmento hrdo:pat_id_8772 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 276600 E70.2 28378 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Cheratosi palmoplantare - distrofia corneale Deficiência de tirosina transaminase Keratosis palmoplantaris - corneal dystrophy Kératose palmoplantaire - dystrophie cornéenne Oculocutaneous tyrosinemia Queratose palmo-plantar - distrofia da córnea Queratosis palmoplantar - distrofia corneal Richner-Hanhart syndrome Richner-Hanhart, síndrome de Richner-Hanhart-Syndrom Sindrome di Richner-Hanhart Syndrome de Richner-Hanhart Síndrome de Richner-Hanhart Síndrome de Richner-Hanhart Tirosina transaminase, deficiência de Tirosinemia da deficit di TAT Tirosinemia da deficit di tirosina aminotransferasi Tirosinemia debida a deficiencia de TAT Tirosinemia debida a deficiencia de tirosina aminotransferasa Tirosinemia oculo-cutânea Tirosinemia oculocutanea Tirosinemia oculocutánea Tirosinemia tipo II Tirosinemia, tipo II Tyrosinemia due to TAT deficiency Tyrosinemia due to tyrosine aminotransferase deficiency Tyrosinemia type II Tyrosintransaminase-Mangel Tyrosinémie oculo-cutanée Tyrosinémie par déficit en TAT Tyrosinémie par déficit en tyrosine aminotransférase Tyrosinémie type II Tirosinemia tipo 2 Tirosinemia tipo 2 Tirosinemia, tipo 2 Tyrosinemia type 2 Tyrosinämie Typ 2 Tyrosinémie type 2 hrdo:pat_id_8773 600089 C538111 neant E10 28455 C1838655 disease Agenesia das células beta do pâncreas com diabetes mellitus neonatal Agenesia de células beta pancreáticas con diabetes neonatal Agenesia delle cellule beta pancreatiche con diabete neonatale Agénésie des cellules bêta pancréatiques - diabète néonatal Betazellen-Agenesie des Pankreas mit neonatalem Diabetes mellitus Pancreatic beta cell agenesis with neonatal diabetes mellitus hrdo:pat_id_8775 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 115310 168000 171300 601650 605373 614165 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Paraganglioma*%5Bti%5D+%28genetic*+OR+hereditary+OR+familial%29%29+OR+Paraganglioma%2C+Extra-Adrenal/ge C74.1 C75.5 D35.0 D35.6 29072 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Familial pheochromocytoma-paraganglioma Feocromocitoma-paraganglioma asociado a SDHx Feocromocitoma-paraganglioma familiar Feocromocitoma-paraganglioma familiare Ganglioglioma Paraganglioma-feocromocitoma legato al gene SDHx Phéochromocytome-paragangliome familial Phéochromocytome-paragangliome lié au gènes SDHx SDHx-related paraganglioma-pheochromocytoma Feocromocitoma-paraganglioma ereditario Feocromocitoma-paraganglioma hereditario Hereditary pheochromocytoma-paraganglioma Phaeochromozytom-Paragangliom-Syndrome, familiäre Phéochromocytome-paragangliome héréditaire Síndromes feocromocitomas-paragangliomas, hereditários hrdo:pat_id_8776 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 254500 D009101 10028228 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=multiple+myeloma%5Bti%5D+OR+multiple+myeloma%5Bmh%5D+OR+Kahler%27s+disease%5Bti%5D C90.0 29073 109989006 55921005 C0026764 disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Doença de Kahler Enfermedad de Kahler Kahler's disease Kahler, doença de Kahler-Krankheit Maladie de Kahler Malattia di Kahler Medullary plasmacytoma Mieloma de células plasmáticas Mieloma dei plasmociti Mieloma delle cellule plasmatiche Mielomatosi Mielomatosis Myelomatose Myelomatosis Myélomatose Myélome à plasmocytes Plasma cell myeloma Plasmacitoma midollare Plasmacytome médullaire Plasmazellmyelom Plasmocitoma medular Plasmozytom, medulläres Mieloma multiplo Mieloma múltiple Mieloma múltiplo Multiple myeloma Myelom, multiples Myélome multiple hrdo:pat_id_8778 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável D016918 10003267 10038294 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22arthritis%2C+reactive%22%5BMH%5D+OR+Reactive+arthritis%5Bti%5D M02.8 29207 129133005 236690002 239783001 67224007 C0035012 C0085435 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Arthritis urethritica Arthritis urethritica Arthritis, venerische Artrite uretritica Artrite venerea Artritis uretrítica Artritis venérea Enfermedad de Fiessinger-Leroy Fiessiger-Leroy-Reiter-Syndrom Fiessinger-Leroy disease Fiessinger-Leroy-Krankheit Fiessinger-Leroy-Reiter's syndrome Fiessinger-Leroy-Reiter, síndrome de Maladie de Fiessinger-Leroy Malattia di Fiessinger-Leroy Poliarterite enterica Poliarteritis entérica Polyarteritis enterica Polyarthritis enterica Reiter's syndrome Reiter-Syndrom Sindrome di Fiessinger-Leroy-Reiter Sindrome di Reiter Syndrome de Fiessinger-Leroy-Reiter Syndrome de Reiter Síndrome de Fiessinger-Leroy-Reiter Síndrome de Fiessinger-Leroy-Reiter Síndrome de Reiter Venereal arthritis Arthrite réactionnelle Arthritis, reaktive Artrite reativa Artrite reattiva Artritis reactiva Reactive arthritis hrdo:pat_id_878 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 151800 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28multiple+OR+familial+OR+benign%29+symmetric+lipomatosis+OR+Lipomatosis%2C+Multiple+Symmetrical E88.8 2398 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Adenolipomatose de Launois-Bensaude Adenolipomatose, Typ Launois-Bensaude Adenolipomatosi di Launois-Bensaude Adenolipomatosis de Launois-Bensaude Adénolipomatose de Launois-Bensaude Central non-encapsulated lipomatosis Doença de Madelung Enfermedad de Madelung Familial benign cervical lipomatosis Launois-Bensaude adenolipomatosis Lipomatose central não-encapsulada Lipomatose centrale non-encapsulée Lipomatose cervical benigna familiar Lipomatose cervicale bénigne familiale Lipomatose, benigne familiäre zervikale Lipomatose, zentrale nichteingekapselte Lipomatosi centrale non incapsulata Lipomatosi cervicale familiare benigna Lipomatosis central no encapsulada Lipomatosis cervical familiar benigna Madelung disease Madelung, doença de Madelung-Krankheit Maladie de Madelung Malattia di Madelung Familial symmetric lipomatosis Lipomatose simétrica familiar Lipomatose symétrique familiale Lipomatose, familiäre symmetrische Lipomatosi simmetrica familiare Lipomatosis simétrica familiar hrdo:pat_id_8780 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant G90.8 29822 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Shapiro syndrome Shapiro, síndrome de Shapiro-Syndrom Sindrome di Shapiro Syndrome de Shapiro Síndrome de Shapiro Síndrome de Shapiro Hipotermia periódica espontánea Hipotermia periódica espontânea Hypothermie périodique spontanée Hypothermie, periodische spontane Ipotermia periodica spontanea Spontaneous periodic hypothermia hrdo:pat_id_8781 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 210500 D001656 10003650 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=biliary+atresia%5Bmajr%5D+OR+biliary+atresia%5Bti%5D Q44.2 30391 77480004 C0005411 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown morphological anomaly 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Atresia of bile ducts Non-syndromic biliary atresia Atresia biliar Atresia biliar Atresia biliare Atrésie des voies biliaires Biliary atresia Gallengangatresie hrdo:pat_id_879 Variabel Variabile Variable Variable Variable Variable Variável 601230 D003874 10012468 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=dermatitis+herpetiformis%5BMajr%5D+OR+Dermatitis+herpetiformis%5BTi%5D L13.0 1656 111196000 C0011608 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Doença de Duhring-Brocq Duhring-Brocq, doença de Duhring-Brocq-Krankheit Durhing-Brocq disease Enfermedad de Durhing-Brocq Maladie de Duhring-Brocq Malattia di Duhring-Brocq Dermatite erpetiforme Dermatite herpetiforme Dermatite herpétiforme Dermatitis herpetiforme Dermatitis herpetiformis Dermatitis herpetiformis hrdo:pat_id_880 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 266100 C536254 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28epilepsy%5Bmh%5D+OR+epilepsy%5Bti%5D%29+%28vitamin+b+6%5Btw%5D+OR+vitamin+b+6%5Bmh%5D+OR+pyridoxine%5Bmh%5D+OR+pyridoxine%5Btw%5D%29+dependent%5Btw%5D G40.8 3006 124596009 C1291560 C1849508 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Convulsiones con respuesta a la piridoxina Convulsiones con respuesta a la vitamina B6 Convulsioni sensibili alla piridossina Convulsioni sensibili alla vitamina B6 Deficit di glutammato decarbossilasi Deficiência de Glutamato descarboxilase Déficit en glutamate décarboxylase Epilepsia sensível à Piridoxina Epilepsia sensível à vitamina B6 Epilepsie pyridoxine-sensible Epilepsie vitamine B6-sensible Glutamat-Decarboxylase-Mangel Glutamate decarboxylase deficiency Glutamato descarboxilase, deficiência de Pyridoxinabhängige Krämpfe (PDS) Pyridoxine-responsive seizures Vitamin B6-abhängige Anfälle Vitamin B6-responsive seizures Epilepsia Piridoxina-dependente Epilepsia dependiente de piridoxina Epilepsie pyridoxino-dépendante Epilepsie, Pyridoxin-abhängige Epilessia dipendente dalla piridossina Pyridoxine-dependent epilepsy hrdo:pat_id_882 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 237450 10039234 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Rotor+syndrome%5Btw%5D+OR+Rotor%27s+syndrome%5Btw%5D+OR+%28Hyperbilirubinemia%2C+Hereditary%5Bmh%5D+AND+rotor%5Btw%5D%29 E80.6 3111 32891000 C0220991 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hiperbilirrubinemia, tipo Rotor Hyperbilirubinemia, Rotor type Hyperbilirubinämie Typ Rotor Hyperbilirubinémie type Rotor Iperbilirubinemia, tipo Rotor Rotor syndrome Rotor-Syndrom Sindrome di Rotor Syndrome de Rotor Síndrome de Rotor Síndrome de Rotor hrdo:pat_id_883 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 268210 268220 D012208 10039022 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22rhabdomyosarcoma%22%5BMeSH+Major+Topic%5D+OR+%28Rhabdomyosarcoma%5BTW%5D+AND+%28embryonal%5Btw%5D+OR+alveolar%5Btw%5D%29%29 C49 780 302847003 30924005 C0035412 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Rabdomiosarcoma Rabdomiosarcoma Rabdomiossarcoma Rhabdomyosarcoma Rhabdomyosarcome Rhabdomyosarkom hrdo:pat_id_884 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 260470 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=subacute+sclerosing+panencephalitis%5Bti%5D+OR+subacute+sclerosing+panencephalitis%5Bmh%5D+OR+Subacute+sclerosing+leukoencephalitis%5Bti%5D A81.1 2806 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Dawson's encephalitis Dawson-Enzephalitis Doença de Van Bogaert Einschlußkörperchen-Enzephalitis, subakute Encefalitis con cuerpos de inclusión subaguda Encefalitis de Dawson Encefalitis de Van Bogaert Encéphalite de Dawson Encéphalite de Van Bogaert Encéphalite morbilleuse à inclusions Enfermedad de Van Bogaert Maladie de Van Bogaert Malattia di Van Bogaert Panencefalite esclerosante sub-aguda Panencefalite sclerosante subacuta Panencefalitis esclerosante subaguda (PEES) Panencéphalite sclérosante subaiguë SSPE Subacute inclusion body encephalitis Subacute sclerosing panencephalitis Subakute sklerosierende Panenzephalitis (SSPE) Van Bogaert disease Van Bogaert encephalitis Van Bogaert, doença de Van Bogaert-Enzephalitis Van-Bogaert-Krankheit Leucoencefalite esclerosante sub-aguda Leucoencefalite sclerosante subacuta Leucoencefalitis esclerosante subaguda Leucoencéphalite sclérosante subaiguë Leukoenzephalitis, sklerosierende subakute Subacute sclerosing leukoencephalitis hrdo:pat_id_885 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 606369 C535500 10048816 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Lennox-Gastaut%5Bti%5D+AND+%28%22syndrome%22%5BMH%5D+OR+syndrome%5BTW%5D%29 G40.4 2382 230418006 C0238111 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Lennox-Enzephalopathie Lennox-Gastaut syndrome Lennox-Gastaut-Syndrom Sindrome di Lennox-Gastaut Syndrome de Lennox-Gastaut Síndrome de Lennox-Gastaut Síndrome de Lennox-Gastaut hrdo:pat_id_886 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 170900 D000752 10034695 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=pernicious+anemia%5BText+Word%5D+OR+pernicious+anaemia%5BText+Word%5D+OR+%22anemia%2C+pernicious%22%5BMeSH+Terms%5D D51.0 120 84027009 C0002892 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Acquired pernicious anemia Addison-Anämie Addison-Biermer anemia Addison-Biermer-Syndrom Addisonian anemia Anemia addisoniana Anemia addisoniana Anemia de Addison-Biermer Anemia de Biermer Anemia di Addison-Biermer Anemia di Biermer Anemia perniciosa Anemia perniciosa Anemia perniciosa Anemia perniciosa a esordio giovanile Anemia perniciosa acquisita Anemia perniciosa adquirida Anemia perniciosa de aparición juvenil Anämie, perniziöse Anémie addisonienne Anémie d'Addison-Biermer Anémie de Biermer Anémie pernicieuse acquise Anémie pernicieuse juvénile Anémie pernicieuse progressive Biermer disease Biermer's anemia Juvenile onset pernicious anemia Pernicious anemia Perniziöse Anämie, erworbene Perniziöse Anämie, juvenile Biermer's disease Biermer-Krankheit Doença de Biermer Enfermedad de Biermer Maladie de Biermer Malattia di Biermer hrdo:pat_id_887 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável D034721 10042949 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=systemic+mastocytosis%5Bti%5D+OR+mast+cell+disease%5Bti%5D+OR+Mastocytosis+Systemic%5Btw%5D+OR+%22mastocytosis%2C+systemic%22%5BMeSH+Terms%5D C96.2 2467 397016004 C0221013 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Doença de mastócitos Malattia dei mastociti Mast cell disease Mastócitos, doença de Mastocitose sistémica Mastocitosi sistemica Mastocitosis sistémica Mastocytose systémique Mastozytose, systemische Systemic mastocytosis hrdo:pat_id_888 Variabel Variabile Variable Variable Variable Variable Variável 272800 D013661 10043147 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=tay-sachs+disease%5Bmajr%5D E75.0 845 111385000 C0039373 C1848922 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Deficit di esosaminidasi A Deficiência de hexosaminidase A Déficit de hexosaminidasa A Déficit en hexosaminidase A GM2-Gangliosidose, Varianten B, B1 und AB GM2-gangliosidosi, variante B, B1 GM2-gangliosidosis, B, B1 variant Gangliosidose GM2, variantes B, B1 e AB Gangliosidose à GM2 variants B, B1 Gangliosidosis-GM2, B, variante B1 Hexosaminidase A deficiency Hexosaminidase A, deficiência de Hexosaminidase A-Mangel Morbus Tay-Sachs Doença de Tay-Sachs Enfermedad de Tay-Sachs Maladie de Tay-Sachs Malattia di Tay-Sachs Tay-Sachs disease Tay-Sachs-Krankheit hrdo:pat_id_889 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 612164 613477 613720 613721 613722 614558 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28early%5Bti%5D+OR+infantile%5Bti%5D%29+AND+epileptic+encephalopath*%5Btw%5D+OR+%28Ohtahara+syndrome%5Btw%5D%29 G40.3 1934 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 EEIP EIEE EIEE EIEE EIEE Early infantile epileptic encephalopathy with suppression-bursts Encefalopatia epilettica infantile precoce con appiattimento elettrico cerebrale Encefalopatía epiléptica infantil temprana con paroxismo-supresión Encéphalopathie épileptique infantile précoce avec "suppression-bursts" Frühinfantile epileptische Enzephalopathie mit Suppression-burst Ohtahara syndrome Ohtahara, síndrome de Ohtahara-Syndrom Sindrome di Ohtahara Syndrome d'Ohtahara Síndrome de Ohtahara Síndrome de Ohtahara Early infantile epileptic encephalopathy Encefalopatia epilettica infantile precoce Encefalopatia epiléptica precoce do lactente Encefalopatía epiléptica infantil temprana Encéphalopathie épileptique infantile précoce Enzephalopathie, epileptische frühinfantile hrdo:pat_id_890 Antes de los 5 años Antes dos 5 anos de idade Avant 5 ans Before age 5 Before age 5 Prima dei 5 anni Vor dem Alter von 5 Jahren Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 609304 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28early%5Bti%5D+OR+neonatal%5Bti%5D+OR+infantile%5Bti%5D+OR+Precocious%5Bti%5D%29+AND+myoclonic+encephalopath*%5Btw%5D G40.3 1935 44423001 C0270855 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Early myoclonic encephalopathy with suppression-bursts Encefalopatia mioclonica precoce con appiattimento elettrico cerebrale Encéphalopathie myoclonique précoce avec "suppression-bursts" Frühkindliche myoklonische Enzephalopathie mit Suppression-burst Early myoclonic encephalopathy Encefalopatia mioclonica precoce Encefalopatia mioclónica precoce Encefalopatía mioclónica temprana Encéphalopathie myoclonique précoce Enzephalopathie, frühkindliche myoklonische hrdo:pat_id_891 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28epilepsy%5Bmh%5D+OR+epileps*%5Bti%5D%29+%28myoclonus%5Bmh%5D+OR+myoclon*%5Btw%5D%29+astatic%5Btw%5D G40.4 1942 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Doose syndrome Doose-Syndrom Epilessia mioclonica-astatica della prima infanzia MAE MAE MAE Myoclonic-astatic epilepsy in early childhood Myoklonisch-astatische Epilepsie (MAE) des frühen Kindesalters Sindrome di Doose Syndrome Doose Epilepsia com crises mioclonico-atónicas Epilepsia con crisis mioclónicas astáticas Epilepsie avec crises myoclono-astatiques Epilepsie mit myoklonisch-astatischen Krisen Epilepsy with myoclonic-astatic seizures Epilessia con crisi miocloniche-astatiche hrdo:pat_id_892 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter neant G40.4 1943 Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Epilepsia con crisis parciales migrantes del lactante Epilepsia infantil com crises focais migratórias Epilepsie avec crises partielles migrantes du nourrisson Epilepsie, infantile mit wandernden fokalen Anfällen Epilessia con crisi parziali migranti dei neuroni Infant epilepsy with migrant focal crisis hrdo:pat_id_894 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 308350 615006 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=infantile+spasms%5Bti%5D+OR+West+syndrome%5BTi%5D+OR+West%27s+syndrome%5BTi%5D+OR+spasms%2C+infantile%5Bmajr%5D G40.4 3451 28055006 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 BNS-Epilepsie Déficit intellectuel - hypsarrhytmie Espasmos infantis Infantile Spasmen Infantile spasms Intellectual deficit - hypsarrhythmia Intelligenzminderung - Hypsarrhythmie Ritardo mentale - ipsaritmia Spasmes infantiles Spasmi infantili Sindrome di West Syndrome de West Síndrome de West Síndrome de West West syndrome West-Syndrom hrdo:pat_id_896 C536795 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Chromosome+22+(ring+chromosomes%5Bmh%5D+OR+ring+chromosome*%5Btw%5D))+OR+ring+chromosome+22%5Btw%5D Q93.2 1446 13555004 C0265492 C2931325 malformation syndrome Anel do cromossoma 22 Chromosome 22 en anneau Cromosoma 22 ad anello Cromosoma 22 en anillo Cromossoma 22 em anel Ring chromosome 22 Ringchromosom 22 hrdo:pat_id_90 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 105830 D017204 10049004 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Angelman+syndrome%5BTI%5D+OR+%22angelman+syndrome%22%5BMeSH+Terms%5D Q93.5 72 76880004 C0162635 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Angelman syndrome Angelman-Syndrom Sindrome di Angelman Syndrome d'Angelman Síndrome de Angelman Síndrome de Angelman hrdo:pat_id_900 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 301040 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=X+linked+AND+%28alpha+thalassemia%5Btw%5D+OR+alpha+thalassaemia%5Btw%5D+OR+alpha-thalassemia%5Bmh%5D%29 D56.0 847 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 ATR-X ATR-X syndrome ATR-X-Syndrom Alpha thalassemia - retardation syndrome, X-linked Alpha thalassémie - déficit intellectuel lié à l'X Sindrome ATR-X Syndrome ATR-X Síndrome ATR-X Alfa talasemia - déficit intelectual ligado al X Alfa talassemia - atraso mental, ligada ao X Alfa talassemia - ritardo mentale, legato all'X Alpha thalassemia - X-linked intellectual deficit syndrome Alpha-Thalassämie - Intelligenzminderung, X-chromosomal Thalassémie alpha - déficit intellectuel lié à l'X hrdo:pat_id_901 Variabel Variabile Variable Variable Variable Variable Variável 255110 600649 608836 C535589 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=carnitine+o-palmitoyltransferase/deficiency%5BMh%5D+AND+%28CPT2%5Btw%5D+OR+CPTII%5Btw%5D+OR+II%5Btw%5D%29 E71.3 157 238002005 C0342790 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 CPT II-Mangel CPT2 CPT2 CPTII CPTII Carnitine palmitoyltransferase deficiency type 2 Déficit en carnitine palmitoyltransférase type 2 Carnitin-Palmitoyl-Transferase II-Mangel Carnitine palmitoyl transferase II deficiency Deficit di carnitina-palmitoil transferasi 2 Deficiência de carnitina palmitoiltransferase 2 Déficit de carnitina palmitoiltransferasa II Déficit en carnitine palmitoyltransférase II hrdo:pat_id_903 176807 300147 300704 601518 602759 603688 608656 608658 609299 609558 610321 610997 611100 611868 611928 611955 611958 611959 614731 C537243 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28prostatic+neoplasm*%5Bti%5D+OR+prostatic+neoplasms%5Bmh%5D+OR+prostate+cancer%5Bti%5D%29+AND+%28familial%5Btw%5D+OR+hereditary%5Btw%5D%29 C61 1331 C2931456 disease Cancer familial de la prostate Cancro da próstata familiar Cancro della prostata, forma familiare Cáncer de próstata, forma familiar Familial prostate cancer Prostatakarzinom, familiäres hrdo:pat_id_905 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 188470 188550 607464 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Thyroid+Neoplasms%5Bmajr%5D+(Papillary%5Bti%5D+OR+papillary+carcinoma)+OR+Adenocarcinoma,+Follicular C73 146 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cancer bien différencié de la thyroïde Carcinoma differenziato della tiroide Schilddrüsenkarzinom, gut differenziertes Well-differentiated thyroid carcinoma Cancer papillaire ou folliculaire de la thyroïde Carcinoma papilar da tiroide Carcinoma papilar de tiroides Carcinoma papillare o follicolare della tiroide Papillary or follicular thyroid carcinoma Schilddrüsenkarzinom, papilläres oder follikuläres hrdo:pat_id_906 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 162300 171400 neant D44.8 653 61808009 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 MEN 2 MEN 2 MEN2 MEN2 MEN2 MEN2 NEM2 Sipple, síndrome de Síndrome de Sipple Multiple endocrine neoplasia type 2 Neoplasia endocrina multipla, tipo 2 Neoplasia endocrina múltiple tipo 2 Neoplasias endócrinas múltiplas tipo 2 Neoplasie, endokrine multiple, Typ 2 Néoplasie endocrinienne multiple type 2 hrdo:pat_id_907 Variabel Variabile Variable Variable Variable Variable Variável 144700 C536851 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28renal+cell+carcinoma%5Bti%5D+OR+carcinoma%2C+renal+cell%5Bmajr%5D+OR+renal+carcinoma%5Bti%29+AND+%28familial+OR+hereditary%29 C64 151 C2931352 group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Carcinome familial à cellules rénales Carcinoma familiare delle cellule renali Carcinoma renal familiar Carcinoma renal familiar Carcinome rénal familial Familial renal cell carcinoma Nierenzellkarzinom, familiäres hrdo:pat_id_91 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 312750 D015518 10039000 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22rett+syndrome%22%5BMH%5D+OR+%28Rett+syndrome%5BTW%5D+NOT+medline%5Bsb%5D%29 F84.2 778 68618008 C0035372 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Rett syndrome Rett-Syndrom Sindrome di Rett Syndrome de Rett Síndrome de Rett Síndrome de Rett hrdo:pat_id_910 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(Monosomy+21%5Bti%5D+OR+(chromosome+21+monosomy))+NOT+(partial+OR+distal+OR+telomer*+OR+21p*%5Bti%5D+OR+21q*%5Bti%5D) Q93.0 574 malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 21q deletion 21q- syndrome 21q-Syndrom Deletion 21q Delezione 21q Délétion 21q Monosomia 21q parziale Monosomie 21q partielle Monosomie 21q, partielle Partial 21q monosomy Sindrome 21q- Syndrome 21q Monosomia 21 Monosomie 21 Monosomie 21 Monosomy 21 Monosomía 21 Monossomia 21 hrdo:pat_id_912 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 312870 C537340 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(%22Golabi+Rosen%22+OR+(Golabi%5Btiab%5D+Behmel%5Btiab%5D)) Q87.3 373 439143004 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Bulldog, síndrome DGSX DGX Dismorfia de Simpson, síndrome Displasia - gigantismo, ligado ao X, síndrome (DGSX) Dysmorphie de Simpson Dysplasie - gigantisme lié à l'X Dysplasie-Gigantismus-Syndrom, X-chromosomales (DGSX) Golabi-Rosen syndrome Golabi-Rosen, síndrome de Golabi-Rosen-Syndrom SDYS SGBS SGBS SGBS SGBS SGBS SGBS1 SGBS1 Simpson dysmorphia syndrome Simpson-Dysmorphie-Syndrom Simpson-Golabi-Behmel syndrome type 1 Simpson-Golabi-Behmel type 1, síndrome de (SGBS1) Simpson-Golabi-Behmel-Syndrom Typ 1 (SGBS1) Sindrome di Golabi-Rosen Sindrome di Simpson-Golabi-Behmel, tipo 1 Sindrome dismorfica di Simpson (SDYS) Sindrome displasia-gigantismo, legata all'X (DGSX) Syndrome de Golabi-Rosen Syndrome de Simpson-Golabi-Behmel type 1 Síndrome Bulldog Síndrome de Golabi-Rosen Síndrome de Golabi-Rosen Síndrome de Simpson-Golabi-Behmel tipo 1 (SGBS1) Síndrome de Simpson-Golabi-Behmel, tipo 1 (SGBS1) Síndrome de dismorfía de Simpson (SDYS) Síndrome de displasia gigantismo ligado al X (DGSX) Síndrome dismorfia de Simpson Síndrome displasia - gigantismo, ligado ao X (DGSX) X-linked dysplasia gigantism syndrome Simpson-Golabi-Behmel syndrome Simpson-Golabi-Behmel-Syndrom Sindrome di Simpson-Golabi-Behmel Syndrome de Simpson-Golabi-Behmel Síndrome de Simpson-Golabi-Behmel Síndrome de Simpson-Golabi-Behmel hrdo:pat_id_913 Variabel Variabile Variable Variable Variable Variable Variável 103900 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hyperaldosteronism%5Bmajr]+AND+%28dexamethasone%5Bti]+OR+glucocorticoid*%5Bti]%29 E26.0 403 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Aldosteronismo glucocorticoide-rimediabile Aldosteronismo tratable con glucocorticoides Dexamethasone sensitive hypertension FH Typ 1 FH, tipo 1 FH1 GRA GRA GRA Glucocorticoid sensitive hypertension Glucocorticoid-remediable aldosteronism HF tipo 1 Hipertensión sensible a dexametasona Hipertensão sensível aos glucocorticóides Hipertensão sensível aos glucocoticoides Hipertensão sensível à dexametasona Hyperaldosteronismus, glucocorticoid-behandelbarer Hypertension mit Dexamethason-Sensibilität Hypertension mit Glukokortikoid-Sensibilität Hypertension sensible aux glucocorticoïdes Hypertension sensible à la dexaméthasone Ipertensione sensibile ai glucocorticoidi Ipertensione sensibile al desametazone Familial hyperaldosteronism type 1 Hiperaldosteronismo familiar tipo 1 Hiperaldosteronismo familiar tipo 1 Hyperaldosteronismus, familiärer, Typ 1 Hyperaldostéronisme familial type 1 Iperaldosteronismo familiare, tipo 1 hrdo:pat_id_915 610460 neant E79.8 3315 disease Deficiencia de tiopurina S-metiltransferasa Deficit di tiopurina S-metiltransferasi Deficiência de tiopurina S-metiltransferase Déficit de tiopurina S-metiltransferasa Déficit en thiopurine S-methyltransferase Thiopurin S-Methyltransferase-Mangel Thiopurine S-methyltransferase deficiency hrdo:pat_id_916 Variabel Variabile Variable Variable Variable Variable Variável 227500 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22factor+vii+deficiency%22%5BMH%5D+OR+Factor+VII+deficiency%5BTi%5D D68.2 327 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Congenital proconvertin deficiency Deficit costituzionale di proconvertina Deficiência congénita em proconvertina Déficit constitutionnel en proconvertine Hipoproconvertinemia Hypoproconvertinemia Hypoproconvertinémie Hypoprokonvertinämie Ipoproconvertinemia Proconvertina, deficiência congénita em Prokonvertin-Mangel, konstitutioneller Congenital factor VII deficiency Deficit congenito del fattore VII Deficiência de fator VII Déficit congénital en facteur VII Déficit congénito del factor VII Faktor VII-Mangel, kongenitaler hrdo:pat_id_918 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance D013734 10056292 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=androgen+insensitivity+syndrome E34.5 754 12313004 52832001 C0039585 C0936016 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown AIS AIS AIS AIS AIS Androgen resistance syndrome Androgen-Resistenz-Syndrom Androgenresistenz-Syndrom Feminização testicular, síndrome de Goldberg-Maxwell syndrome Goldberg-Maxwell, síndrome de Goldberg-Maxwell-Syndrom Morris syndrome Morris, síndrome de Morris-Syndrom Pseudo-hermafroditismo masculino por insensibilidade aos androgénios Resistência aos androgénios, síndrome de Sindrome da femminilizzazione testicolare Sindrome da resistenza agli androgeni Sindrome di Goldberg-Maxwell Sindrome di Morris Syndrom der testikulären Feminisierung (TFM) Syndrome de Goldberg-Maxwell Syndrome de Morris Syndrome de féminisation testiculaire Syndrome de résistance aux androgènes Síndrome de Goldberg-Maxwell Síndrome de Goldberg-Maxwell Síndrome de Morris Síndrome de Morris Síndrome de feminización testicular Síndrome de feminização testicular Síndrome de resistencia a los andrógenos Síndrome de resistência aos androgénios Testicular feminization syndrome Androgen insensitivity syndrome Androgeninsensitivitätssyndrom Sindrome da insensibilità agli androgeni Syndrome d'insensibilité aux androgènes Síndrome de insensibilidad a los andrógenos Síndrome de insensibilidade aos androgénios hrdo:pat_id_919 Variabel Variabile Variable Variable Variable Variable Variável 183850 184000 184100 271600 600093 600561 602611 609223 611717 10062920 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28osteochondrodysplasias%5BMH%5D+Spondyloepiphyseal%5Bti%5D%29+OR+spondyloepiphyseal+dysplasia*%5BTi%5D Q77.7 253 367530008 C0038015 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Displasia espondilo-epifisária Displasia espondiloepifisaria Displasia spondiloepifisaria Dysplasie spondylo-épiphysaire Dysplasie, spondyloepiphysäre Spondyloepiphyseal dysplasia hrdo:pat_id_920 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 134610 249100 D010505 10016207 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%28Mediterranean+fever%5BText+Word%5D+AND+familial%5BAll+Fields%5D%29+NOT+medline%5Bsb%5D%29+OR+%22familial+mediterranean+fever%22%5BMeSH+Terms%5D E85.0 342 12579009 307421005 C0031069 C0585274 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Benign paroxysmal peritonitis Benign recurrent polyserositis Doença periódica Enfermedad periódica FMF FMF FMF FMF FMF Familial paroxysmal polyserositis Maladie périodique Malattia periodica Periodic disease Periodische Krankheit Peritonite parossistica benigna Peritonitis paroxística benigna Peritonitis paroxística familiar Peritonitis, benigne paroxysmale Poliserositis recurrente benigna Polisierosite parossistica familiare Polisierosite ricorrente benigna Polyserositis, benigne rekurrierende Polyserositis, paroxysmale, familiäre Form Polysérosite paroxystique familiale Polysérosite récurrente bénigne Péritonite paroxystique bénigne Familial mediterranean fever Febbre mediterranea familiare Febre mediterrânica familiar Fiebre mediterránea familiar Fièvre méditerranéenne familiale Mittelmeerfieber, familiäres hrdo:pat_id_921 Normal Normal Normal Normal Normal Normal Normale Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 303100 D015794 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=choroideremia%5Bmh%5D+OR+Choroideremia%5Bti%5D H31.2 180 75241009 C0008525 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 CHM CHM CHM CHM CHM Distrofia tapetocoroidal Distrofia tapetocoroideale Dystrophie, tapetochoroidale Tapetochoroidal dystrophy Chorioideremie Choroideremia Choroïdérémie Coroideremia Coroideremia Coroideremia hrdo:pat_id_923 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 163500 257270 300071 310500 610427 610444 610445 613216 613830 614565 615058 C536122 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28night+blindness%5Bmh%5D+OR+Night+blindness%5BTi%5D%29+AND+%28congenital%5Bsh%5D+OR+congenital%5BTi%5D%29+AND+stationary H53.6 215 232061009 C0339535 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Congenital essential nyctalopia Hemeralopia congénita essencial Héméralopie congénitale essentielle Nictalopia esencial congénita Nictalopia essenziale congenita Nyktalopie, essentielle kongenitale Cecità notturna stazionaria congenita Ceguera nocturna estacionaria congénita Cegueria noturna estacionária congénita Congenital stationary night blindness Cécité nocturne stationnaire congénitale Nachtblindheit, kongenitale stationäre hrdo:pat_id_924 Variabel Variabile Variable Variable Variable Variable Variável 136120 245900 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=phosphatidylcholine+sterol+acyltransferase/df+OR+lcat+defic*%5Btw%5D+OR+Fish-eye+disease%5Btw%5D E78.6 650 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Deficit di lecitina-colesterolo-acil-transferasi (LCAT) Deficiência de lecitina-colesterol aciltransferase Doença de Norum Doença de olho de peixe Déficit en lécithine-Cholestérol-Acyl-Transférase Ictiose oftalmica Ictiose oftálmica Lecithin-cholesterol acyltransferase deficiency Lecitin-Cholesterin-Acyltransferase-Mangel Lecitina-colesterol aciltransferase, deficiência de Norum, doença de Olho de peixe, doença de Deficit di LCAT Deficiência de LCAT Déficit de LCAT Déficit en LCAT LCAT deficiency LCAT-Mangel hrdo:pat_id_925 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 203400 606984 610600 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=hypoaldosteronism+AND+%28familial+OR+congenital%29+OR+aldosterone+synthase/df E27.4 427 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Familial hypoaldosteronism Hipoaldosteronismo familiar Hipoaldosteronismo familiar Hypoaldosteronismus, familiärer Hypoaldostéronisme familial Ipoaldosteronismo familiare hrdo:pat_id_926 Normal Normal Normal Normal Normal Normal Normale Variabel Variabile Variable Variable Variable Variable Variável 227400 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Factor+V+deficiency%5Bmh%5D+OR+Factor+V+deficiency%5BTi%5D D68.2 326 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Deficit di proaccelerina Disfunção plaquetária tipo Quebec Déficit de proacelerina Déficit en proaccélerine Enfermedad de Owren Maladie de Owren Malattia di Owren Owren's disease Owren-Krankheit Paraemofilia Parahemofilia Parahemophilia Parahämophilie Parehémophilie Proaccelerin deficiency Proaccelerinmangel Congenital factor V deficiency Deficit congenito del fattore V Deficiência de fator V Déficit congénital en facteur V Déficit congénito del factor V Faktor V-Mangel, kongenitaler hrdo:pat_id_927 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 177200 D056929 10037113 10052313 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Liddle+syndrome%5Btw%5D+OR+%28Hypertensi*%5Bti%5D+AND+hypokalemia%5Bti%5D+AND+%28familial+OR+congenital%29%29+OR+Pseudohyperaldosteronism I15.1 526 71275003 C0221043 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Hipocaliémia hipertensiva familiar Pseudo-hiperaldosteronismo Pseudoaldosteronism Pseudoaldosteronismo Pseudoaldosteronismo Pseudoaldosteronismus Pseudoaldostéronisme Pseudohiperaldosteronismo tipo 1 Pseudohyperaldosteronism type 1 Pseudohyperaldosteronismus Typ 1 Pseudohyperaldostéronisme type 1 Pseudoiperaldosteronismo, tipo 1 Liddle syndrome Liddle-Syndrom Sindrome di Liddle Syndrome de Liddle Síndrome de Liddle Síndrome de Liddle hrdo:pat_id_9282 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 602014 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Hypomagnes*[ti]+OR+Magnesium+Deficiency[mh]%29+%28magnesium+malabsorp*[tw]+OR+Malabsorption+Syndromes%5Bmh%3Anoexp%5D%29+OR+Magnesium+Deficiency/cn E83.4 30924 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown HOMG1 HOMG1 HOMG1 HOMG1 HOMG1 Hipomagnesemia causada por malabsorción selectiva de magnesio Hipomagnesemia intestinal con hipocalcemia secundaria Hipomagnesemia intestinal primária com hipocalcémia secundária Hipomagnesemia intestinal tipo 1 Hypomagnesemia caused by selective magnesium malabsorption Hypomagnesemia intestinal type 1 Hypomagnesiämie, intestinale, Typ 1 Hypomagnesiämie, intestinale, mit sekundärer Hypokalzämie Hypomagnésémie intestinale avec hypocalcémie secondaire Hypomagnésémie intestinale type 1 Hypomagnésémie par malabsorption sélective de magnésium Intestinal hypomagnesemia with secondary hypocalcemia Ipomagnesemia causata da malassorbimento selettivo del magnesio Ipomagnesemia intestinale con ipocalcemia secondaria Ipomagnesemia intestinale, tipo 1 Autosomal recessive primary hypomagnesemia with normocalcuria and hypocalcemia Hipomagnesemia por má absorção seletiva de magnésio Hipomagnesemia primaria autosómica recesiva con normocalciuria e hipocalcemia Hypomagnesiämie durch selektive Magnesiumaufnahme Hypomagnésémie primaire autosomique récessive avec normocalcurie et hypocalcémie Ipomagnesemia primitiva autosomica recessiva con normocalciuria e ipocalcemia hrdo:pat_id_9283 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 125700 304900 neant E23.2 30925 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant clinical subtype Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown CDI ereditario CDI hereditaria DIC héréditaire Diabete insipido neurogeno ereditario Diabetes insípida neurogénica hereditaria Diabète insipide neurogène héréditaire Hereditary CDI Hereditary neurogenic diabetes insipidus Diabete insipido centrale ereditario Diabetes insipidus central primária Diabetes insipidus, nicht erworbener, zentraler Diabetes insípida central hereditaria Diabète insipide central héréditaire Hereditary central diabetes insipidus hrdo:pat_id_9284 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Variabel Variabile Variable Variable Variable Variable Variável 248250 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Hypomagnes*%5Bti%5D+OR+Magnesium+Deficiency%5Bmh%5D%29+%28Renal+Tubular+Acidosis+OR+%28Nephrocalcinosis+hypercalciuria%29%29 31043 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown HOMG3 HOMG3 HOMG3 HOMG3 HOMG3 Hipomagnesemia renal de tipo 3 Hypomagnesemia renal type 3 Hypomagnesiämie, renale, Typ 3 Hypomagnésémie rénale type 3 Ipomagnesemia renale, tipo 3 Familial hypomagnesemia - hypercalciuria - nephrocalcinosis Familiäre Hypomagnesiämie mit Hyperkalziurie und Nephrokalzinose Hipomagnesemia familiar con hipercalciuria y nefrocalcinosis Hipomagnesemia renal - hipercalciúria - nefrocalcinose Hypomagnésémie familiale - hypercalciurie - néphrocalcinose Ipomagnesemia familiare con ipercalciuria e nefrocalcinosi hrdo:pat_id_9285 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Variabel Variabile Variable Variable Variable Variable Variável 607907 C538219 10057070 neant 31112 128742004 238863004 276799004 C0392784 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 DFSP DFSP DFSP Dermatofibrosarcoma di Darier-Ferrand Dermatofibrosarcoma protuberans Dermatofibrosarcoma protuberans Dermatofibrosarcoma protuberante Dermatofibrosarcome de Darier-Ferrand Dermatofibrossarcoma protuberante hrdo:pat_id_9286 31142 disease Lichen erosivo orale Lichen erosivus, orale Lichen érosif buccal Liquen erosivo bucal Líquen erosivo oral Oral erosive lichen hrdo:pat_id_9288 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 205400 D013631 10051875 neant E78.6 31150 15346004 C0039292 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Doença de Tangier Enfermedad de Tangier Maladie de Tangier Malattia di Tangier Tangier disease Tangier-Krankheit hrdo:pat_id_9289 D052456 10065156 neant E78.6 31153 190785000 C0473527 group of phenomes Hipo alfalipoproteinemias (término genérico) Hipoalfalipoproteinemia (termo genérico) Hypoalphalipoproteinemia Hypoalphalipoproteinämie Hypoalphalipoprotéinémie Ipoalfalipoproteinemia hrdo:pat_id_9290 D006995 neant E78.6 31154 190786004 C0020597 group of phenomes Hipobetalipoproteinemia Hipobetalipoproteinemia (termo genérico) Hypobetalipoproteinemia Hypobetalipoproteinämie Hypobêtalipoprotéinémie Ipobetalipoproteinemia hrdo:pat_id_9291 Variabel Variabile Variable Variable Variable Variable Variável D008554 10069748 neant A24.1 A24.2 A24.3 A24.4 31202 428111003 C0025229 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Melioidose Melioidose Melioidosi Melioidosis Melioidosis Mélioïdose hrdo:pat_id_9293 Variabel Variabile Variable Variable Variable Variable Variável C536125 10029444 A43 31204 29227009 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Nocardiose Nocardiose Nocardiosi Nocardiosis Nocardiosis Nokardiose hrdo:pat_id_9294 D011906 10037904 neant A25 31205 1685005 C0034686 disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Febbre da morso di ratto Febre por mordedura de rato Fiebre causada por mordeduras de rata Fièvre due aux morsures de rat Rat-bite fever Rattenbiss-Fieber hrdo:pat_id_930 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601321 C537393 D009456 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=+%28neurofibromatosis+1%5Bmh%5D+AND+noonan+syndrome%5Bmh%5D%29+OR+%28neurofibromatosis%5Bti%5D+AND+noonan%5Bti%5D%29 Q87.1 638 403820003 C0553586 C2931482 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Neurofibromatose - syndrome de Noonan Neurofibromatose-Noonan-Syndrom Neurofibromatosis - Noonan syndrome Neurofibromatosis - síndrome de Noonan Sindrome neurofibromatosi-Noonan Síndrome de neurofibromatose - Noonan hrdo:pat_id_931 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 302350 C538336 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Nance-Horan%5BTW%5D Q87.0 627 445257004 C0796085 Dominant lié à l'X Dominante legata all'X Dominante ligado al X Ligado ao X dominante X-chromosomal-dominant X-linked dominant X-linked dominant malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Nance-Horan syndrome Nance-Horan-Syndrom Sindrome di Nance-Horan Syndrome de Nance-Horan Síndrome de Nance-Horan Síndrome de Nance-Horan hrdo:pat_id_932 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 168601 300557 556500 600116 602404 605543 605909 606324 606852 607060 607688 610297 613164 613643 614203 614251 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%22parkinson+disease%22%5BMH%5D+OR+%28Parkinson+disease%5BTW%5D+NOT+medline%5Bsb%5D%29%29+AND+genetic%5Btw%5D G20 2828 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Early-onset Parkinson disease Enfermedad de Parkinson de inicio juvenil Enfermedad de Parkinson de inicio precoz Enfermedad de Parkinson familiar Enfermedad de Parkinson hereditaria Familial Parkinson disease Hereditary Parkinson disease Maladie de Parkinson familiale Maladie de Parkinson héréditaire Maladie de Parkinson précoce Malattia di Parkinson a esordio giovanile Malattia di Parkinson a esordio precoce Malattia di Parkinson ereditaria Malattia di Parkinson familiare Parkinson-Krankheit, hereditäre Parkinson-Syndrom, familiäres Young-onset Parkinson disease Doença de Parkinson, formas genéticas Enfermedad de Parkinson del adulto joven Parkinson-Syndrom, früh-adultes Parkinsonismo a esordio nella prima età adulta Syndromes parkinsoniens de l'adulte jeune Young adult-onset Parkinsonism hrdo:pat_id_933 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 114290 211990 602196 D055036 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Campomelic+dysplasia%5Btw%5D Q87.1 140 74928006 C1861922 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Campomelic dwarfism Nanisme campomélique Nanismo campomelico Nanismo campomélico Campomelic dysplasia Displasia campomelica Displasia campomélica Displasia campomélica Dysplasie campomélique Dysplasie, kampomele hrdo:pat_id_935 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 256800 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=neuropathies,hereditary+sensory+and+autonomic%5Bmajr:noexp%5D+AND+%28type+4%5Btw%5D+OR+type+iv%5Btw%5D%29 G60.8 642 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown HSAN 4 HSAN4 Insensibilidad al dolor con anhidrosis Insensibilidade à dor com anidrose Insensibilité à la douleur - anhydrose Insensitivity to pain - anhidrosis Schmerzunempfindlichkeit mit Anhidrose Hereditary sensory and autonomic neuropathy type 4 Neuropathie sensitive et autonomique héréditaire type 4 Neuropathie, autonome hereditäre sensorische, Typ 4 Neuropatia autonoma e sensoriale, tipo 4 Neuropatia autonómica e sensitiva hereditária tipo 4 Neuropatía sensitiva y autonómica tipo 4 hrdo:pat_id_936 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 256850 D056768 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28giant%5BTW%5D+AND+%28axonal%5Btw%5D+OR+%22axons/pathology%22%5BMh%5D%29+AND+neuropathy%5Btw%5D%29+OR+giant+axonal+neuropathy%5Btw%5D G60.8 643 128207002 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Giant axonal neuropathy Neuropathie à axones géants Neuropatia axonal gigante Neuropatia con assoni giganti Neuropatía, axonal gigante Riesenaxon-Neuropathie hrdo:pat_id_937 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 167800 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=pancreatitis/cn+OR+%28hereditary+pancreatitis%5Btw%5D+AND+pancreatitis%5Bmh%5D%29 K86.1 676 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Pankreatitis, hereditäre Hereditary chronic pancreatitis Pancreatite cronica familiare Pancreatite hereditária Pancreatitis crónica hereditaria Pancréatite chronique héréditaire Pankreatitis, chronische hereditäre hrdo:pat_id_938 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 256500 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Netherton%5Btw%5D L67.0 Q80.8 634 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Bamboo hair syndrome Bambushaar-Syndrom Cabelo de bambu, síndrome de Comèl-Netherton syndrome Comèl-Netherton-Syndrom NS NS NS NS SN Sindrome dei capelli a bambù Sindrome di Comèl-Netherton Syndrome de Comèl-Netherton Syndrome des cheveux bambous Síndrome de Comèl-Netherton Síndrome de cabelo de bambu Síndrome de los cabellos de bambú Doença de Netherton Netherton syndrome Netherton-Syndrom Sindrome di Netherton Syndrome de Netherton Síndrome de Netherton hrdo:pat_id_94 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 301500 D000795 10016016 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22fabry+disease%22%5BMeSH+Terms%5D+OR+Fabry+disease%5BTi%5D E75.2 324 124464003 16652001 C0002986 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive disease 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 1-5 / 10 000 Alfa-galactosidase A, deficiência de Alpha-Galaktosidase A-Mangel Alpha-galactosidase A deficiency Anderson-Fabry disease Anderson-Fabry-Krankheit Angiocheratoma Corporis Diffusum Angiocheratoma diffuso Angiokeratom, diffuses Angiokeratoma Corporis Diffusum Angiokeratoma corporis diffusum Fabry Angiokératome diffus de fabry Angiokératose diffuse de Fabry Angiokératose diffuse universelle Angioqueratoma corporal difuso Angioqueratoma difuso Angioqueratose difusa Deficiencia de alfa-galactosidasa A Deficit di alfa-galattosidasi A Deficiência de alfa-galactosidase A Diffuse angiokeratoma Déficit de alfa-galactosidasa A Déficit en alpha-galactosidase A Enfermedad de Anderson-Fabry FD FD FD FD FD Fabry's disease Maladie d'Anderson-Fabry Malattia di Anderson-Fabry Sphingolipidose héréditaire de Fabry Thésaurismose lipoïdique héréditaire Doença de Fabry Enfermedad de Fabry Fabry disease Fabry-Syndrom Maladie de Fabry Malattia di Fabry hrdo:pat_id_946 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 600145 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28sacral+agenesis%5Bti%5D+OR+Caudal+regression%5Btw%5D%29+AND+%28sequence%5Bti%5D+OR+syndrome%5Bti%5D+OR+anomal*%5Bti%5D+OR+Spinal+Dysraphism%29 Q76.0 3027 Esporádica Esporádico Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel Sporadic Sporadic Sporadica Sporadique Sporadisch malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Agenesia do sacro Caudal dysplasia Displasia caudal Displasia caudale Dysplasie caudale Sacral agenesis syndrome Sacral regression syndrome Sindrome da agenesia sacrale Sindrome da regressione sacrale Syndrome d'agénésie sacrée Syndrome de regression caudale Síndrome de agenesia sacra Síndrome de regresión sacra Caudal regression sequence Kaudale Regressions-Sequenz Secuencia de regresión caudal Sequenza da regressione caudale Sequência de regressão caudal Séquence de régression caudale hrdo:pat_id_950 Variabel Variabile Variable Variable Variable Variable Variável 108950 I45.6 844 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Lown-Ganong-Levine syndrome Lown-Ganong-Levine-Syndrom Sindrome di Lown-Ganong-Levine Syndrome de Lown-Ganong-Levine Síndrome de Lown-Ganong-Levine Atrial tachyarrhythmia with short PR interval Tachiaritmia atriale con intervallo PR corto Tachyarrhythmie, atriale mit kurzem PR-Intervall Tachyarythmie atriale avec intervalle PR court Taquiarritmia atrial con intervalo PR corto Taquiarritmia auricular com intervalo PR curto hrdo:pat_id_954 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 210600 600546 606744 608664 613676 613823 C537533 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=dwarfism%5Bmajr%5D+AND+seckel%5Btw%5D+NOT+%28seckel*like%5Btw%5D+OR+non*seckel%5Btw%5D%29 Q87.1 808 57917004 C0265202 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Nanismo cabeça de pássaro Seckel syndrome Seckel-Syndrom Sindrome di Seckel Syndrome de Seckel Síndrome de Seckel Síndrome de Seckel hrdo:pat_id_959 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 277580 613265 613266 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=(waardenburg's%5Btw%5D+OR+Waardenburg%5Bti%5D)+(Shah%5Bti%5D+OR+Hirschsprung%5Bti%5D+OR+type+iv%5Bti%5D+OR+type+4%5Bti%5D+OR+WS4%5Bti%5D) Q87.8 897 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Shah-Waardenburg syndrome Sindrome di Shah-Waardenburg Sindrome di Waardenburg, tipo 4 Sindrome di Waardenburg-Hirschsprung Syndrome de Shah-Waardenburg Syndrome de Waardenburg type 4 Syndrome de Waardenburg-Hirschsprung Síndrome de Waardenburg tipo 4 WS4 WS4 WS4 WS4 Waardenburg syndrome type 4 Waardenburg tipo 4, síndrome de Waardenburg-Hirschsprung syndrome Waardenburg-Hirschsprung-Syndrom Waardenburg-Syndrom Typ 4 Sindrome di Waardenburg-Shah Syndrome de Waardenburg-Shah Síndrome de Waardenburg-Shah Síndrome de Waardenburg-Shah Waardenburg-Shah syndrome Waardenburg-Shah-Syndrom hrdo:pat_id_960 Adolescence / Young adulthood Adolescence / Young adulthood Adolescencia / Edad adulta Adolescent / adulte jeune Adolescenza / Giovane età adulta Adolescência / Adulto jovem Jugendalter / junges Erwachsenenalter 277700 D014898 10049429 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=werner+syndrome%5BMH%5D+OR+Werner+syndrome%5BTi%5D E34.8 902 51626007 C0043119 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Adult progeria Progeria adulta Progeria de l'adulte Progeria dell'adulto Progerie, adulte SW WS WS WS WS WS Sindrome di Werner Syndrome de Werner Síndrome de Werner Síndrome de Werner Werner syndrome Werner-Syndrom hrdo:pat_id_962 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 194200 D014927 10048015 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Wolff+Parkinson+White+syndrome%5BTi%5D+OR+wolff+parkinson+white+syndrome%5Bmh%5D I45.6 907 74390002 C0043202 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Pré-excitação ventricular familiar, síndrome de Sindrome della preeccitazione ventricolare familiare Syndrome de préexcitation ventriculaire familial Síndrome de pré-excitação ventricular familiar Ventricular familial preexcitation syndrome Ventrikuläres familiäres Präexzitations-Syndrom Sindrome di Wolff-Parkinson-White Syndrome de Wolff-Parkinson-White Síndrome de Wolff-Parkinson-White Síndrome de Wolff-Parkinson-White (WPW) Wolff-Parkinson-White syndrome Wolff-Parkinson-White-Syndrom hrdo:pat_id_963 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601675 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=PIBIDS+OR+%28Trichothiodystrophy%5Bti%5D+%28type+F%5BAll%5D+OR+photosensitivity+disorders+OR+photosensitive+OR+sun+sensitivity%29%29 Q80.8 670 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Trichothiodystrophie - Sonnenlicht-Empfindlichkeit Trichothiodystrophie Typ F   Trichothiodystrophie avec photosensibilité Trichothiodystrophie type F Trichothiodystrophy - sun sensitivity Trichothiodystrophy type F Tricotiodistrofia - fotosensibilità Tricotiodistrofia - fotossenssibilidade Tricotiodistrofia tipo F Tricotiodistrofia, tipo F PIBIDS syndrome PIBIDS-Syndrom Sindrome PIBIDS Syndrome PIBIDS Síndrome PIBIDS Síndrome PIBIDS hrdo:pat_id_965 Variabel Variabile Variable Variable Variable Variable Variável 113900 113950 115080 140400 604559 608567 neant I45.8 871 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Bloc cardiaque progressif familial Blocco cardiaco familiare progressivo Bloqueio cardíaco progressivo familiar Doença de Lenegre Enfermedad de Lev-Lenegre Familial progressive heart block Herzblock, familiärer progressiver Lenegre, doença de Lev-Lenegre disease Lev-Lenegre-Krankheit Maladie de Lev-Lenègre Malattia di Lev-Lenegre Defeito familiar na condução cardíaca Difetto familiare progressivo della conduzione cardiaca Familial progressive cardiac conduction defect Reizleitungs-Defekt des Herzens, familiärer Trastorno progresivo familiar de conducción cardiaca Trouble familial progressif de conduction cardiaque hrdo:pat_id_966 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601675 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Trichothiodystrophy%5BAll%5D+AND+%28xpd%5Btw%5D+OR+xpb%5Btw%5D+OR+ercc2%5Btw%5D%29 Q80.8 453 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Ichtyose avec trichothiodystrophie Sindrome di Tay Syndrome de Tay Síndrome de Tay Tay syndrome Tay, síndrome de Tay-Syndrom Trichothiodystrophie Typ E Trichothiodystrophie mit kongenitaler Ichthyose Trichothiodystrophie type E Trichothiodystrophy type E Trichothiodystrophy with congenital ichthyosis Tricotiodistrofia - ictiose congénita Tricotiodistrofia con ittiosi congenita Tricotiodistrofia tipo E Tricotiodistrofia, tipo E IBIDS syndrome IBIDS-Syndrom Sindrome IBIDS Syndrome IBIDS Síndrome IBIDS Síndrome de IBIDS hrdo:pat_id_967 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 119300 604547 606713 C536528 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Van+Der+Woude%5Btw%5D+OR+lip+pits%5Btw%5D%29+AND+%28cleft+lip%5Btw%5D+OR+cleft+lip%5BMH%5D+OR+irf6%5Btw%5D+OR+Van+Der+Woude%5Bti%5D%29 Q38.0 888 79261008 C0175697 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Cleft lip and/or palate with mucous cysts of lower lip Fenda labial e/ou palatina com quistos mucosos no lábio inferior Fente labiopalatine - fistules de la lèvre inférieure Fisteln der Unterlippe Fossetas labiais, síndrome de Labiopalatoshisi - fistola del labbro inferiore Lip-pit syndrome Schisi labiopalatina - fistola del labbro inferiore Síndrome de fossetas labiais Unterlippenfisteln in fakultativer Kombination mit Spalten VWS Sindrome di Van der Woude Syndrome de Van Der Woude Síndrome de Van Der Woude Síndrome de Van Der Woude Van Der Woude syndrome Van-der-Woude-Syndrom hrdo:pat_id_968 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 261540 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Peters+plus%5Btw%5D+OR+kivlin%5Btw%5D%29+AND+syndrome+OR+%28Peters+anomaly%5Btw%5D+AND+dwarfism%5Btw%5D%29 Q13.4 709 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anomalia de Peters com nanismo de membros curtos Anomalia di Peters con nanismo ad arti corti Anomalie de Peters - nanisme Anomalía de Peter con enanismo de miembros cortos Peters anomaly with short limb dwarfism Peters com nanismo de membros curtos, anomalia de Peters-Anomalie - Kleinwuchs Peters-plus syndrome Peters-plus-Syndrom Sindrome di Peters-plus Syndrome de Peters plus Síndrome de Peters-Plus Síndrome de Peters-plus hrdo:pat_id_969 Variabel Variabile Variable Variable Variable Variable Variável 125480 309200 609633 D001714 10057667 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=Bipolar+Disorder%2Fge F31 2986 13746004 C0005586 Multigenic/multifactorial Multigenic/multifactorial Multigenica/multifattoriale Multigénica/multifactorial Multigénico/multifactorial Polygenetisch/Multifaktoriell Polygénique/polyfactoriel >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 >1 / 1000 Desórdenes bipolares, formas genéticas Disturbi maniaco-depressivi Doença maníaco-depressiva Désordres bipolaires Malattie bipolari, forme genetiche Maniac-depressive disorders Maniac-depressive psychosis Psicose maníaco-depressiva Psicosi maniaco-depressiva Psychose maniaco-dépressive Troubles maniaco-dépressifs Bipolar disorders Bipolare Störungen Disturbi bipolari Doença bipolar Psicosis maníaco-depresiva, formas genéticas Troubles bipolaires hrdo:pat_id_97 Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 263200 D017044 10036047 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=kidney,+polycystic,+autosomal+recessive%5Bmajr%5D Q61.1 731 28770003 C0085548 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 ARPKD Nierenkrankheit, polyzystische, infantile Form Nierenkrankheit, polyzystische, rezessive Autosomal recessive polycystic kidney disease Doença renal poliquística tipo recessivo Nierenkrankheit, polyzystische, autosomal-rezessive Poliquistosis renal, autosómica y recesiva Polykystose rénale autosomique récessive Rene policistico, autosomico recessivo hrdo:pat_id_971 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 268300 269000 C535687 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Roberts+syndrome%5Bti%5D+OR+pseudothalidomide+syndrome%5Btw%5D+or+SC+syndrome%5Btw%5D+OR+SC+phocomelia+syndrome%5Btw%5D Q73.8 3103 48718006 C0392475 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Phocomélie SC Pseudothalidomid-Syndrom Pseudothalidomide syndrome Roberts-SC phocomelia syndrome Roberts-SC-Phokomelie-Syndrom SC focomelia SC focomelia SC phocomelia SC pseudothalidomide syndrome SC-Phokomelie SC-Pseudothalidomid-Syndrom Sindrome di Roberts-SC focomelia Sindrome pseudotalidomide Sindrome pseudotalidomide SC Syndrome de Roberts-SC phocomelia Syndrome pseudothalidomide Syndrome pseudothalidomide SC Síndrome de Roberts-SC focomelia Síndrome pseudotalidomida Síndrome pseudotalidomida SC Roberts syndrome Roberts-Syndrom Sindrome di Roberts Syndrome de Roberts Síndrome de Roberts Síndrome de Roberts hrdo:pat_id_972 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 309520 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=mental+retardation%5Ball%5D+%28marfan*%5Bti%5D+OR+Lujan-Fryns%29 Q87.8 776 Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X X-chromosomal-rezessiv X-linked recessive X-linked recessive malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Déficit intelectual ligado al X con hábito marfanoide Geistige Retardierung, X-chromosomale - marfanoider Habitus Lujan syndrome Lujan-Fryns syndrome Lujan-Fryns, síndrome de Lujan-Fryns-Syndrom Lujan-Syndrom Ritardo mentale legato all'X con habitus marfanoide Sindrome di Lujan Sindrome di Lujan-Fryns Syndrome de Lujan-Fryns Síndrome de Lujan Síndrome de Lujan-Fryns Síndrome de Lujan-Fryns X-linked mental retardation with marfanoid habitus XLMR con habitus marfanoide XLMR con hábito marfanoide XLMR mit marfanoidem Habitus XLMR with marfanoid habitus Atraso mental ligado ao X - hábito marfanóide Deficit cognitivo legato all'X con habitus marfanoide Hábito marfanoide con déficit intelectual ligado al X Intelligenzminderung, X-chromosomale - marfanoider Habitus Syndrome marfanoïde avec déficit intellectuel lié à l'X X-linked intellectual deficit with marfanoid habitus hrdo:pat_id_9793 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 602066 neant G40.4 31709 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Convulsiones infantiles - coreoatetosis Convulsioni infantili - coreoatetosi Convulsions infantiles - choréoathétose Convulsões e coreoatetose do lactente Infantile Konvulsionen - Coreoathetose Infantile convulsions and choreoathetosis ICCA syndrome ICCA-Syndrom Sindrome ICCA Syndrome ICCA Síndrome ICCA Síndrome ICCA hrdo:pat_id_9794 Variabel Variabile Variable Variable Variable Variable Variável 145300 D000542 10001890 neant J67 31740 37471005 C0002390 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown AAE Alveolite allergica estrinseca Alveolitis alérgica extrínseca Alveolitis, exogen-allergische Extrinsic allergic alveolitis HP HP HP HP Hypersensitivitätspneumonie   NH Pneumonite de hipersensibilidade Pneumopathie d'hypersensibilité Alveolite alérgica extrínseca Alvéolite allergique extrinsèque Hypersensitivity pneumonitis Hypersensitivitätspneumonie Neumopatía por hipersensibilidad Polmonite da ipersensibilità hrdo:pat_id_9796 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável 31824 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch particular clinical situation in a disease or syndrome 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Colchicine poisoning Intossicazione da colchicina Intoxicación por colchicina Intoxication par la colchicine Intoxicação por colquicina Kolchizin-Vergiftung hrdo:pat_id_9797 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável neant T51.1 31825 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Intossicazione da metanolo Intoxication par le méthanol Intoxicação por metanol Metanol, intoxicación por Methanol poisoning Methanol-Vergiftung hrdo:pat_id_9798 Adult Adult Adulte Adulti Adulto Adultos Erwachsene Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta neant T52.8 31826 426692001 C0413194 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Ethylene glycol poisoning Ethylenglykol-Vergiftung Intossicazione da etilenglicole Intoxicación por etilenglicol Intoxication par l'éthylène glycol Intoxicação por etilenoglicol hrdo:pat_id_9799 Variabel Variabile Variable Variable Variable Variable Variável http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Paraquat+poisoning%5Bti%5D+OR+Paraquat/po%5Bmajr%5D T60.3 31827 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Intossicazione da Paraquat Intoxicación por paraquat Intoxication par le paraquat Intoxicação por paraquato Paraquat poisoning Paraquat-Vergiftung hrdo:pat_id_9800 Alle Alter Any age Any age Cualquier edad Qualquer idade Qualsiasi età Tout âge Variabel Variabile Variable Variable Variable Variable Variável neant T46.0 31828 Esporádica Esporádico Sporadic Sporadic Sporadica Sporadique Sporadisch particular clinical situation in a disease or syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Digitalis poisoning Digitalis-Vergiftung Intossicazione da digitale Intoxicación por digitálicos Intoxication par les digitaliques Intoxicação por digitálicos hrdo:pat_id_9801 265450 D011668 10037458 31837 89420002 C0034091 disease PVOD Doença venoclusiva pulmonar Enfermedad veno-oclusiva pulmonar Maladie veino-occlusive pulmonaire Malattia veno-occlusiva polmonare Pulmonale veno-okklusive Krankheit Pulmonary venoocclusive disease hrdo:pat_id_982 Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 108770 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28heart+atria%5Bmh%5D+OR+Atrial%5Bti%5D%29+AND+cardiomyopathies%5Bmh%5D+AND+%28heart+block%5Bmh%5D+OR+heart+block%5Bti%5D%29 I45.5 1344 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Atrial cardiomyopathy with heart block Cardiomiopatía auricular con bloqueo cardíaco Atrial stand still Cardiomiopatia atriale con blocco cardiaco Cardiomyopathie auriculaire - bloc cardiaque Kardiomyopathie, atriale mit Herzblock Miocardiopatia auricular com bloqueio cardíaco Miocardiopatía auricular con bloqueo cardíaco hrdo:pat_id_988 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 120433 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Eye+Abnormalities%5Bmh%5D+AND+coloboma*%5Bti%5D+AND+%28cleft+lip%5Bmh%5D+OR+cleft+palate%5Bmh%5D+OR+cleft*%5Bti%5D%29 Q12.2 1473 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Coloboma - fisura labiopalatina - déficit intelectual Coloboma - labiopalatoschisi - ritardo mentale Coloboma uveal com fenda lábio-palatina e atraso mental Colobome - fente labiopalatine - déficit intellectuel Uvea-Kolobom - Lippen-Gaumenspalte - geistige Retardierung Uveal coloboma - cleft lip and palate - intellectual deficit hrdo:pat_id_989 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 120200 216820 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%22coloboma%22%5Bmajr%5D+OR+Coloboma%5BTI%5D 194 92828000 93390002 C0009363 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Esporádica Esporádico Ligado ao X recessivo Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X Sporadic Sporadic Sporadica Sporadique Sporadisch X-chromosomal-rezessiv X-linked recessive X-linked recessive group of phenomes 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Coloboma ocular Coloboma ocular Coloboma oculare Colobome oculaire Kolobom des Auges Ocular coloboma hrdo:pat_id_99 Adulte agé Ancianos Anziani Elderly Elderly Idosos Senioren Adulte Adulthood Adulthood Erwachsenenalter Età adulta Idade adulta La edad adulta 193300 D006623 10047716 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28%28%22hippel-lindau+disease%22%5BTIAB%5D+OR+Von+Hippel-Lindau%5BTW%5D%29+NOT+Medline%5BSB%5D%29+OR+%22hippel-lindau+disease%22%5BMeSH+Terms%5D Q85.8 892 46659004 C0019562 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Angiomatose cérébello-rétinienne de von Hippel-Lindau Angiomatose cérébellorétinienne de Von Hippel-Lindau Angiomatose cérébellorétinienne familiale Angiomatose rétino-cérébelleuse de Von Hippel-Lindau Angiomatose rétinocérébelleuse de von Hippel-Lindau Angiomatosi cerebello-retinica familiare Angiomatosi cerebelloretinica familiare Angiomatosis cerebelo- retiniana, familiar Angiomatosis cerebelorretiniana, familiar Enfermedad de Hippel-Lindau Enfermedad de Lindau Familial cerebello-retinal angiomatosis Familial cerebelloretinal angiomatosis Hippel-Lindau disease Lindau disease Maladie de Lindau Malattia di Hippel-Lindau Malattia di Lindau Retino-Zerebelläre Angiomatose Hippel-Lindau Retino-zerebelläre Angiomatose, familiäre Sindrome di Von Hippel-Lindau Síndrome de Von Hippel-Lindau VHL VHL VHL VHL VHL Von Hippel-Lindau syndrome Von-Hippel-Lindau-Syndrom Doença de Von Hippel-Lindau Enfermedad de Von Hippel-Lindau Maladie de Von Hippel-Lindau Malattia di Von Hippel-Lindau Von Hippel-Lindau disease Von-Hippel-Lindau-Krankheit hrdo:pat_id_990 Normal Normal Normal Normal Normal Normal Normale Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 121200 121201 269720 608217 C535466 D020936 10067866 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28benign%5Bti%5D+AND+neonatal%5Bti%5D+AND+%28seizure*%5Bti%5D+OR+epilepsy%5Bti%5D+OR+convulsion*%5Bti%5D%29%29+OR+Epilepsy%2C+Benign+Neonatal%5Bmh%5D G40.3 1949 230410004 C0220669 C2930911 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo disease Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Benign familial neonatal convulsions Benign familial neonatal epilepsy Convulsiones neonatales benignas familiares Epilepsia neonatal familiar benigna Epilepsie néonatale bénigne familiale Epilepsie, benigne neonatale, familiäre Form Epilessia benigna neonatale familiare Krampfanfälle, benigne neonatale, familiäre Form Benign familial neonatal seizures Convulsioni benigne neonatali familiari Convulsions néonatales bénignes familiales Convulsões neonatais benignas familiares Epilepsia neonatal benigna Neugeborenenkrämpfe, benigne familiäre hrdo:pat_id_991 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 129500 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28ectodermal+dysplasia%5BTi%5D+OR+ectodermal+dysplasia%5BMH%5D%29+AND+%28hydrotic%5Btw%5D+OR+hidrotic%5Btw%5D%29+OR+Clouston+syndrome%5BTW%5D Q82.8 189 54209007 C0162361 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate disease 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 1-9 / 100 000 Clouston syndrome Displasia ectodermica idrotica Displasia ectodérmica hidrótica Dysplasie, ektodermale hidrotische Sindrome di Clouston Syndrome de Clouston Síndrome de Clouston Clouston-Syndrom Displasia ectodérmica hidrótica Dysplasie ectodermique hidrotique Hidrotic ectodermal dysplasia Sindrome di Clouston Síndrome de Clouston hrdo:pat_id_993 Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 601457 602450 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28scid%5Bti%5D+OR+severe+combined+immunodeficiency%5Bmh%5D%29+%28Glanzmann+Riniker%5Btw%5D+OR+artemis+OR+rag1+OR+rag2+OR+rag%29+NOT+omenn*%5Bti%5D D81.1 275 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo etiological subtype 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 1-9 / 1 000 000 Agamaglobulinemia, tipo alinfocítico DICS type Athabaskan DICS type alymphocytose Déficit immunitaire combiné sévère type Athabaskan Immunodeficienza combinata grave, tipo Athabaskan Imunodeficiência combinada grave, tipo alinfocítico Inmunodeficiencia combinada grave por deficiencia de DCLRE1C Inmunodeficiencia combinada grave por deficiencia de artemis Inmunodeficiencia combinada grave por déficit de artemis Inmunodeficiencia combinada grave, tipo Athabaskan SCID due to DCLRE1C deficiency SCID due to artemis deficiency SCID por deficiencia de DCLRE1C SCID por deficiencia de artemis SCID por déficit de DCLRE1C SCID por déficit de artemis SCID type Athabaskan SCID type alymphocytose SCID, Athabasca-Typ SCID, Athabaskan type SCID, alymphozytärer Typ SCID, tipo Athabaskan SCID, tipo Athabaskan SCID, tipo alinfocitario Severe combined immunodeficiency due to artemis deficiency Severe combined immunodeficiency, Athabaskan type Déficit immunitaire combiné sévère type alymphocytosique Immundefekt, kombinierter schwerer, alymphozytärer Typ Immunodeficienza combinata grave, tipo alinfocitario Imunodeficiência combinada grave, T- B- Inmunodeficiencia combinada grave por déficit de DCLRE1C Severe combined immunodeficiency due to DCLRE1C deficiency hrdo:pat_id_996 Normal Normal Normal Normal Normal Normal Normale Childhood Childhood Enfance Infancia Infanzia Infância Kindesalter 118400 D002636 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=cherubism%5BMH%5D+OR+Cherubism%5Bti%5D K10.8 184 76098004 C0008029 Autosomal dominant Autosomal dominant Autosomal-dominant Autosomica dominante Autosomique dominant Autossómica dominante Autosómico dominate malformation syndrome Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Cherubismo Chérubinisme Querubismo Cherubinismo Cherubism Cherubismus Chérubisme Querubinismo Querubismo hrdo:pat_id_998 Keine Daten verfügbar Nessun dato disponibile No data available No data available No se dispone de datos Non documenté Não há dados disponíveis Neonatal / infancia Neonatal/Kleinkindalter Neonatal/infancy Neonatal/infancy Neonatal/infância Neonatale/prima infanzia Néonatal/petite enfance 246700 C535460 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=Anderson+disease%5Btw%5D+OR+Chylomicron+retention+disease%5Btw%5D+OR+sara2%5Btw%5D E78.6 71 C0795956 Autosomal recessive Autosomal recessive Autosomal-rezessiv Autosomica recessiva Autosomique récessif Autossómica recessiva Autosómico recesivo disease <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 <1 / 1 000 000 Anderson disease Anderson-Krankheit CMRD CMRD CMRD CMRD CMRD CRD CRD CRD CRD CRD Enfermedad de Anderson Hipobetalipoproteinemia con deleción selectiva de Apo B-48 Hypobetalipoproteinämie mit selektiver Apo B-48-Deletion MRC Maladie d'Anderson Malattia di Anderson Chylomicron retention disease Chylomikronen-Retentions-Krankheit Doenças de retenção dos quilomicrons Enfermedad de retención de quilomicrones Maladie de rétention des chylomicrons Malattia da ritenzione dei chilomicroni hrdo:pat_id_999 Variabel Variabile Variable Variable Variable Variable Variável D000756 10040661 http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28sideroblastic+anemia%5Bti%5D+OR+sideroblastic+anaemia%5Bti%5D+OR+anemia%2C+sideroblastic%5Bmajr%5D%29+AND+%28humans+OR+patients+OR+patient%29 D64.0 D64.1 D64.2 D64.3 1047 41841004 C0002896 Autosomal dominant Autosomal dominant Autosomal recessive Autosomal recessive Autosomal-dominant Autosomal-rezessiv Autosomica dominante Autosomica recessiva Autosomique dominant Autosomique récessif Autossómica dominante Autossómica recessiva Autosómico dominate Autosómico recesivo Dominant lié à l'X Dominante legata all'X Dominante ligado al X Esporádica Esporádico Herencia mitocondrial Hérédité mitochondriale Ligado ao X dominante Ligado ao X recessivo Mitochondrial inheritance Mitochondrial inheritance Mitochondriale Vererbung Modo de hereditariedade mitocondrial Recesivo ligado al X Recessiva legata all'X Récessif lié à l'X Sporadic Sporadic Sporadica Sporadique Sporadisch Trasmissione mitocondriale X-chromosomal-dominant X-chromosomal-rezessiv X-linked dominant X-linked dominant X-linked recessive X-linked recessive group of phenomes Desconhecido Desconocido Inconnu Sconosciuto Unbekannt Unknown Unknown Anämie, sideroblastische Anemia sideroblastica Anemia sideroblástica Anemia sideroblástica (termo genérico) Anämie, sideroachrestische Anémie sidéroblastique Sideroblastic anemia hrdo:path_id_0 biological pathway biological pathway hrdo:sgn_id_1 clinical sign clinical sign signe clinique hrdo:sgn_id_10000 Anomalias da língua, gengivas e mucosa oral Anomalie della lingua, della gengiva e della mucosa orale Anomalien der Zunge, des Zahnfleisches und der Mundschleimhaut Anomalies de la langue/des gencives Anomalies of tongue, gingiva and oral mucosa Anomalías de lengua, encías y mucosa oral hrdo:sgn_id_10070 Macroglosia/protrusión/prominencia/hipertrofia de la lengua Macroglossia/protusione della lingua/lingua prominente/ipertrofica Macroglossia/protusão da língua / língua prominente/hipertrófica Macroglossia/tongue protrusion/proeminent/hypertrophic Macroglossie/protrusion linguale/langue proéminente/hypertrophique Makroglossie/hypertophische/prominente Zunge/Zungenprotrusion hrdo:sgn_id_10140 Microglosia/aglosia/hipoglosia/hipoplasia de la lengua Microglossia/aglossia/hipoglossia/hipoplasia da língua Microglossia/aglossia/hypoglossia/tongue hypoplasia Microglossia/aglossia/ipoglossia/ipoplasia della lingua Microglossie/Aglossie/Hypoglossie/Zungenhypoplasie Microglossie/aglossie/hypoglossie/hypoplasie de la langue hrdo:sgn_id_10210 Glosoptosis Glossoptose Glossoptose Glossoptose Glossoptosi Glossoptosis hrdo:sgn_id_10280 Cleft/notched/bifid tongue Langue bifide Lengua hendida/descamada/bífida Língua bífida/fenda da língua Schisi della lingua/lingua segnata/bifida Zungenkerbe/Zungenspalte hrdo:sgn_id_10350 Faltenzunge/Fissuren der Zunge Fissured/scrotal tongue Langue scrotale/fissurée/plicaturée/crénelée/fissure de la langue Lengua fisurada/escrotal Lingua scrotale/fissurata Língua fissurada/escrotal hrdo:sgn_id_10420 Amartoma/tumefazione della lingua/della gengiva/della mucosa orale Hamartom/Schwellung der Zunge/Zahnfleisch/orale Mukosa Hamartoma/tumefacción de la lengua/las encías/la mucosa oral Hamartoma/tumefaction of the tongue/gingivae/oral mucosa Hamartoma/tumefação da língua/gengivas/mucosa oral Tuméfactions de la langue et des gencives/hamartomes hrdo:sgn_id_10490 Anchiloglossia/sinechie linguali Ankyloglossia/lingual synechiae Ankyloglossie/adhérence de la langue Ankyloglossie/linguale Synechie Anquiloglosia/sinequias linguales Anquiloglossia/sinéquia lingual hrdo:sgn_id_10560 Glositis Glossite Glossite Glossite Glossitis Glossitis hrdo:sgn_id_10630 Freins buccaux anormaux/synéchies buccales Oral synechiae/abnormal frenulae Sinechie orali/frenuli anomali Sinequias orales/frenillo anómalo Sinéquia oral/freios anormais orale Frenula/Synechien hrdo:sgn_id_10700 Broad alveolar ridge Cresta alveolar amplia Margine alveolare largo Rebord alvéolaire épais Rebordo alveolar largo breiter Alveolarrand hrdo:sgn_id_10770 Encías gruesas/hipertróficas/fibromatosas Gencives épaisses/hypertrophie des gencives/fibromatose gingivale Gengivas espessas/hipertróficas/fibromatosas Gengive spesse/ipertrofiche/fibromatosi gengivale Thickened/hypertrophic/fibromatous gingivae verdicktes/hypertrophes/fibromatöses Zahnfleisch hrdo:sgn_id_10840 Abnormal pigmentation of the oral mucosa/gingivae Pigmentación anómala de la mucosa oral/las encías Pigmentanomalien der oralen Mukosa/Gingivae/Zahnfleisch Pigmentation anormale de la muqueuse buccale/des gencives Pigmentazione anomala della mucosa orale/delle gengive Pigmentação anormal da mucosa oral/gengivas hrdo:sgn_id_10910 Gengivite Gengivite Gingivite Gingivitis Gingivitis Gingivitis hrdo:sgn_id_11000 Anomalias do palato Anomalie del palato Anomalies du palais Anomalías del paladar Gaumen-Anomalie Palate anomalies hrdo:sgn_id_11150 High vaulted/narrow palate Paladar ancho/de bóveda alta Palais ogival/étroit Palato arqueado/estreito Palato stretto/volta palatina alta hoher/schmaler Gaumen hrdo:sgn_id_11300 Paladar estrecho Palais court Palato corto Palato curto Short palate kurzer Gaumen hrdo:sgn_id_11450 Esostosi del palato/toro palatino Exostose am Gaumen/Gaumenwulst Exostoses do palato/torus palatino Exostosis palatina/torus palatino Palate exostoses/torus palatinus Torus palatin hrdo:sgn_id_11600 Immobile soft palate/soft palate anomaly Paladar blando inmóvil/anomalía del paladar blando Palais immobile/anomalie du voile palatin Palato mole imóvel/anomalia do palato mole Palato molle immobile/anomalia del palato molle unbeweglicher Gaumen/Gaumensegel-Anomalie hrdo:sgn_id_11750 Aplasie/hypoplasie de la luette Hipoplasia/aplasia de la úvula Hypoplastic/aplastic uvula Ugola ipoplasica/aplasica hypoplastisches/aplastisches Gaumenzäpfchen/Uvula Úvula hipoplásica/aplásica hrdo:sgn_id_11900 Cleft palate without cleft lip/submucosal cleft palate/bifid uvula Fenda do palato sem fenda do lábio/Fenda submucosa do palato/úvula bífida Fente palatine sans fente labiale/fente sous muqueuse/luette bifide Gaumenspalte ohne Lippenspalte/submuköse Gaumenspalte/gespaltene Uvula Paladar hendido sin fisura labial/hendidura submucosa del paladar/úvula bífida Palatoschisi senza schisi labiale/palatoschisi sottomucosa/ugola bifida hrdo:sgn_id_12000 Anomalias dos dentes e dentição Anomalie dei denti e della dentizione Anomalien der Zähne und der Gebissbildung Anomalies des dents/ de la dentition Anomalies of teeth and dentition Anomalías de dientes y dentición hrdo:sgn_id_12050 Anomalia da forma dos dentes Anomalie della forma dei denti Anomalía en la forma de los dientes Dents de forme anormale/pointues/coniques Tooth shape anomaly Zahnform-Anomalie hrdo:sgn_id_12100 Taurodontia Taurodontia Taurodontia Taurodontie Taurodontie/taurodontisme Taurodonzia hrdo:sgn_id_12150 Complete/partial microdontia Microdontia completa/parcial Microdontia completa/parcial Microdontie totale/partielle Microdonzia completa/parziale komplette/partielle Mikrodontie hrdo:sgn_id_12200 Complete/partial macrodontia Macrodontia completa/parcial Macrodontia completa/parcial Macrodontie totale/partielle Macrodonzia completa/parziale komplette/partielle Makrodontie hrdo:sgn_id_12250 Denti soprannumerari/iperodontia Dents surnuméraires/hyperdontie/polydontie Dientes supernumerario/poliodoncia Polidontia/dentes supranumerários Supernumerary teeth/polyodontia überzählige Zähne/Polydontie hrdo:sgn_id_12300 Adontie/Oligodontie/Hypodontie Anodontia/oligodontia/hipodontia Anodontia/oligodontia/hipodontia Anodontia/oligodontia/hypodontia Anodontie/oligodontie/hypodontie Anodonzia/oligodonzia/ipodonzia hrdo:sgn_id_12350 Incisive centrale unique Incisivo mediano unico Incisivo médio isolado Incisivos centrales solitarios Solitary median incisor einzelner mittlerer Schneidezahn hrdo:sgn_id_12400 Abnormal dentition/dental position/implantation/unerupted/dental ankylosis Anomalie della dentizione/non eruzione/posizione/impianto/anchilosi dentali Dentición/posición/implantación/erupción dentales anómalas/anquilosis dental Dentition/implantation/position anormale des dents/ankylose dentaire Posição/implantação dentária anormais/dentes inclusos /anquilose dentária anomale Dentition/Zahnposition/Zahndurchbruch/dentale Ankylose hrdo:sgn_id_12450 Anomalia dello smalto Anomalia do esmalte Anomalie de l'émail Anomalía del esmalte dentario Enamel anomaly Zahnschmelz-Anomalie hrdo:sgn_id_12500 Anomalia da dentina Anomalia della dentina Anomalie de la dentine Anomalía de la dentina Dentine anomaly Zahnbein-Anomalie hrdo:sgn_id_12550 Anomalia del cemento/ipercementosi Anomalia do cimento/hipercimentose Anomalie du cément/hypercémentose Anomalía del cemento dental/hipercementosis Cementum anomaly/hypercementosis Zahnwurzelzement-Anomalie/Hyperzementose hrdo:sgn_id_12600 Anomalia da coloração dentária/dentes manchados/eritrodontia Anomalia della colorazione dei denti/denti macchiati/eritrodonzia Anomalie der Zahnfarbe/gefleckte Zähne/Erythrodontie Anomalía del color dental/dientes manchados/eritrodoncia Coloration des dents anormale/dents tachetées/érythrodontie Dental staining anomaly/spotted teeth/erythrodontia hrdo:sgn_id_12650 Carie multiple Caries dentaires multiples Caries múltiple Cáries múltiplas Karies Multiple caries hrdo:sgn_id_12700 Erupción prematura de los dientes/de los dientes natales Eruption précoce des dents/dents néonatales/dents de naissance Erupção prematura dos dentes/dentes neonatais Eruzione prematura dei denti/denti natali Premature eruption of teeth/natal teeth angeborene Zähne/vorzeitige Zahnung hrdo:sgn_id_12750 Chute précoce de la dentition de lait Perda prematura dos dentes decíduos Perdita prematura dei denti natali Premature lost of decidious teeth Pérdida prematura de los dientes natales vorzeitiger Verlust der Milchzähne hrdo:sgn_id_12800 Atraso da dentição/erupção dos dentes / ausência de erupção dos dentes Delayed dentition/eruption of teeth/lack of eruption of teeth Eruption tardive/non éruption des dents Retraso en la dentición/erupción dental/ausencia de la erupción dental Ritardo della dentizione/eruzione dei denti/mancanza dell'eruzione dentale verzögerter Zahndurchbruch/Spätzahnung/verspätete Zahnung hrdo:sgn_id_12850 Cisti/tumori dentali Dental cysts/tumors Kystes/tumeurs des dents Quistes/tumores dentales Quistos/tumores dentários Zysten/Tumore der Zähne hrdo:sgn_id_12900 Abnormal erosion/resorption of teeth/odontolysis Anomala erosione/riassorbimento dei denti/odontolisi Erosion anormale des dents/résorption pathologique des dents/odontolyse Erosión/resorción anómalas de los dientes/odontólisis Erosão anormal/reabsorção dos dentes/odontólise anomale Erosion/Resorption des Zähne/Odontolyse hrdo:sgn_id_12950 Alveolise/paraodontite Alveolisi/parodontite Alveolyse/Parodontitis Alveolysis/paraodontitis Alveólisis/periodontitis Alvéolyse/odontolyse/parodontite hrdo:sgn_id_13000 Anomalias do ouvido e da audição Anomalie dell'orecchio e dell'udito Anomalies des oreilles/de l'audition Anomalies of ear and hearing Anomalías de oreja y oído Ohren- und Höranomalien hrdo:sgn_id_13020 Anomalias do ouvido externo Anomalie dell'orecchio esterno Anomalien des externen Ohrs Anomalies de l'oreille externe Anomalías del oído externo External ear anomalies hrdo:sgn_id_13040 Implantación baja de las orejas/orejas dobladas para atrás Implantação baixa/rotação posterior dos pavilh?es auriculares Low set ears/posteriorly rotated ears Orecchie a basso impianto/orecchie ruotate posteriormente Oreilles bas implantées/oreilles en rotation postérieure tief angesetzte Ohren/posterior rotierte Ohren hrdo:sgn_id_13060 Orecchie prominenti Oreilles décollées/proéminentes Orejas prominentes/en forma de bate Pavilhões auriculares prominentes/de morcego Prominent/bat ears abstehende Ohren hrdo:sgn_id_13080 (Cripto)microtia/anotia/aplasia/hipoplasia en conducto auditivo externo/aurícula Microtia/criptomicrotia/anotia/aplasia/hipoplasia do canal auditivo externo Microtia/criptomicrotia/anotia/ipo/aplasia canale uditivo esterno/padiglioni Microtia/cryptomicrotia/anotia/external auditory canal/pinnae aplasia/hypoplasia Microtie/cryptomicrotie/anotie/aplasie/hypoplasie oreille externe/pavillons Mikrotie/Kryptomikrotie/Anotie/Hypolasie des externen auditorischen Kanals hrdo:sgn_id_13100 Poliotia Poliotia Poliotia Polyotia Polyotie Polyotie hrdo:sgn_id_13120 Sinotia Sinotia Sinotia Synotia Synotie Synotie hrdo:sgn_id_13140 Long/large ear Orecchio lungo/grande Oreille grande/longue/large Oreja larga/grande Pavilhão auricular longo/largo große/lange Ohren hrdo:sgn_id_13160 Deficiencia en el cartílago de la oreja Deficiência da cartilagem do pavilhão auricular Difetto della cartilagine dell'orecchio Ear cartilage deficiency Ohrknorpel-Hypoplasie Oreille molle/cartilage de l'oreille anormal hrdo:sgn_id_13180 Calcified/rigid ear cartilage Cartilagem do pavilhão auricular calcificada/rígida Cartilagine dell'orecchio rigida/calcificata Cartílago de la oreja calcificado/rígido Oreille calcifiée/rigide verkalkter/verhärteter Ohrknorpel hrdo:sgn_id_13200 Elice piegato Folded helix Hélice dobrada Hélix replegado Oreille de capucin/repliée überfaltete Helix hrdo:sgn_id_13220 Orecchio tondo Oreille ronde Oreja redonda Pavilhão auricular redondo Round ear runde Ohren hrdo:sgn_id_13240 Elice ispessito/scolpito Helix thickened/sculpted Hélice estreita/esculpida Hélix grueso/como esculpido Oreille épaisse/très sculptée verdickte/ausgeprägte Helix hrdo:sgn_id_13260 Elice a punta/orecchio da elfo Hélice ponteaguda/ Pavilhão auricular élfica Hélix puntiagudo/a modo de elfo Oreille faunesque/pavillon pointu Pointed helix/Elfin ear betonteHelix/Elfenohr hrdo:sgn_id_13280 Elice/crux dell'elice/conca assente/anomalo/aderente/fistole posteriori a elice Helix/crux helix absent/abnormal/adherent/crux cymbae/posterior helix pits Helix/crux helix absent/abnormal/adherent/crux cymbae/posterior helix pits Hélice/crux ausente/anormal/com ades?es /cruz cymbae/fossetas posteriores Hélix/cruz hélix ausente/anómala/adherente/crux cymbae/fositas helix posterior fehlende/anomale Helix hrdo:sgn_id_13300 Lobe petit/hypoplasique/adhérent/absent Lobo piccolo/ipoplasico/aderente/assente Lóbulo de la oreja pequeño/hipoplásico/adherente/ausente Lóbulo do pavilhão auricular pequeno/hipoplásico/aderente/ausente Small/hypoplastic/adherent/absent ear lobe hypoplastisches/angewachsenes/fehlendes Ohrläppchen hrdo:sgn_id_13320 Bifid/cleft ear lobe/ear lobe pits Lobe bifide/fossettes/incisures du lobe Lóbulo de la oreja bífido/hendido/papiloma del lóbulo auricular Lóbulo do pavilhão auricular bífido/fendido / fossetas no lóbulo Schisi del lobo/lobo bifido/fessure sul lobo zweigeteiltes/gespaltenes Ohrläppchen/Grübchen der Ohrläppchen hrdo:sgn_id_13340 Lobe charnu/large Lobo largo/spesso Lóbulo de la oreja grueso/ancho Lóbulo do pavilhão auricular espesso/alargado Thick/wide ear lobe verdickte/breite Ohrläppchen hrdo:sgn_id_13360 Ear lobe/pinnae telangiectasia Telangiectasia del lóbulo de la oreja/aurícula Telangiectasia do lóbulo do pavilhão auricular/pinnae Telangiektasie der Ohrläppchen/Ohrmuschel Teleangiectasia del lobo/dei padiglioni auricolari Télangiectasies du lobe/du pavillon hrdo:sgn_id_13380 Anomalia da antihélice Anomalia dell'antielice Anomalies de l'anthélix Antehelixwurzel-Anomalie Antihelix anomaly Antihélix anómalo hrdo:sgn_id_13400 Trago anomalo/assente Trago anómalo/ausente Tragus abnormal/absent Tragus anormal/absence de tragus Tragus anormal/ausente Tragus-Anomalie hrdo:sgn_id_13420 Antitrago anomalo Antitrago anómalo Antitragus abnormal Antitragus anormal Antitragus anormal Antitragus-Anomalie hrdo:sgn_id_13440 Agenesia/stenosi/atresia del canale uditivo esterno Atresia/estenose/agenesia do canal auditório externo Atresia/estenosis/agénesis del conducto auditivo externo Atrésie du conduit auditif externe/sténose/absent External auditory canal atresia/stenosis/agenesis Gehörgangatresie/-aplasie/-agenesie/-stenose hrdo:sgn_id_13460 Anomalias estruturais do ouvido médio/ossículos/cavidade timpânica Anomalie strutturali dell'orecchio medio/degli ossicini/della cavità del timpano Anomalies de structure de l'oreille moyenne/osselets/cavité tympanique Anomalías estructurales del oído medio/osículos/cavidad timpánica Structural anomalies of middle ear/ossicles/tympanic cavity Strukturanomalie des Mittelohrs/Gehörknöchelchen/Paukenhöhle hrdo:sgn_id_13480 Anomalias estruturais do ouvido interno/cóclea/vestíbulo/canais semicirculares Anomalie strutturali orecchio interno/coclea/vestibolo/canali semicircolari Anomalies de structure oreille interne/cochlée/vestibule/canaux semi-circulaires Anomalías estructurales del oído interno/cóclea/vestíbulo/canales semicirculares Structural anomalies of inner ear/cochlea/vestible/semicircular canals Strukturanomalie des Innenohrs/Kochlea/Gehörgänge hrdo:sgn_id_13500 Anomalias dos arcos branquiais Anomalie degli archi branchiali Anomalies des arcs branchiaux Anomalías en los arcos branquiales Branchial archs anomalies Kiemenbogen-Anomalien hrdo:sgn_id_13520 Branchial/posterior auricular/preauricular/cheek cysts/fistulae Cisti/fistole branchiali/auricolari posteriori/preauricolari/delle guance Fistules branchiales/auriculaires postérieures/préauriculaires/borgnes des joues Quistes/fístulas branquiales/auriculoposteriores/preauriculares/en las mejillas Quistos/fístulas branquiais/auriculares posteriores/preauriculares/da bochecha branchiogene/posteriore aurikuläre/preaurikuläre Wangenzyste/-fistel hrdo:sgn_id_13540 Appendices branchiaux/appendices/bourgeons préauriculaires Appendici/lembi cutanei preauricolari/branchiali Apéndices/prominencias/preauriculares/branquiales Apêndices pré-auriculares/branquiais Preauricular/branchial tags/appendages präaurikuläre/branchiale Anhängsel hrdo:sgn_id_13560 Anomalias funcionais do ouvido interno Anomalie funzionali dell'orecchio interno Anomalies fonctionnelles de l'oreille interne Anomalías funcionales del oído interno Functional anomalies of the inner ear funktionelle Anomalien des Innenohrs hrdo:sgn_id_13580 Acouphènes Tinidos/acufenos Tinnito Tinnitus Tinnitus Tinnitus hrdo:sgn_id_13600 Hiperacusia Hiperacusia Hyperacousie Hyperacusia Hyperakusie Iperacusia hrdo:sgn_id_13620 Dizziness Mareo Schwindel Tonturas Vertiges Vertigine/capogiro hrdo:sgn_id_13640 Diminuição da acuidade auditiva/hipoacusia/surdez Hearing loss/hypoacusia/deafness Hörverlust/Hypoakusie/Taubheit Perdita dell'udito/ipoacusia/sordità Pérdida de audición/hipoacusia/sordera Surdité/anomalie de l'audition/hypoacousie/perte de l'audition hrdo:sgn_id_13660 Diminuição da acuidade auditiva/surdez neurossensorial Sensorineural deafness/hearing loss Sordera/pérdida de audición neurosensorial Sordità neurosensoriale/perdita dell'udito Surdité de perception/surdité neuro-sensorielle sensorineurale Schwerhörigkeit/Hörverlust hrdo:sgn_id_13680 Conductive deafness/hearing loss Diminuição da acuidade auditiva/surdez de condução Schallleitungsschwerhörigkeit/Hörverlust Sordera/pérdida de audición conductiva Sordità/perdita dell'udito trasmissiva Surdité de transmission/de conduction hrdo:sgn_id_13700 Central deafness/hearing loss Diminuição da acuidade auditiva/surdez central Sordera/pérdida de audición central Sordità/perdita dell'udito centrale Surdité centrale zentrale Hörstörung/Hörverlust hrdo:sgn_id_13720 Chronic/relapsing otitis Otite cronica/ricorrente Otite crónica/recorrente Otites chroniques/otites à répétition Otitis crónica/recurrente chronische/rezidivierende Otitis hrdo:sgn_id_13740 Chondrite du pavillon de l'oreille Chondritis der Ohrmuscheln Condrite da pinnae Condrite del padiglione auricolare Condritis auricular Pinnae chondritis hrdo:sgn_id_14000 Anomalias do pescoço Anomalie del collo Anomalien des Hals-Bereiches Anomalies du cou Anomalies of the neck Anomalís del cuello hrdo:sgn_id_14150 Collo corto Cou court Cuello corto Pescoço curto Short neck kurzer Hals hrdo:sgn_id_14300 Cuello con pliegues/pterigión Pescoço alado/pterygium colli Pterigio del collo/pterigium colli Pterygium colli Webbed neck/pterygium colli lose Nackenhaut/Pterygium colli hrdo:sgn_id_14450 Exceso de piel alrededor de la nuca sin pterigión Excess nuchal skin without pterygium colli Excesso de pele na nuca sem pterygium colli Excès de peau dans le cou sans pterygium colli Pelle nucale in eccesso senza pterigium colli überschüssige Nackenhaut ohne Pterygium colli hrdo:sgn_id_14600 Cystic hygroma Higroma quístico Higroma quístico Hygroma cervical Igroma cistico zystisches Hygrom hrdo:sgn_id_14750 Branchial fistulae of the neck Fistole branchiali del collo Fistules branchiales du cou Fístula branquial del cuello Fístula branquial do pescoço branchiogene Halszyste/-fistel hrdo:sgn_id_14900 Congenital torticolli Torcicollo congenito Torcicolo congénito Torticolis congénital Tortícolis congénita kongenitaler Torticollis hrdo:sgn_id_15000 Anomalias do peito/tórax/tronco Anomalie del torace/tronco Anomalien des Brustkorbes/Thorax/Rumpf Anomalies du thorax/du tronc Anomalies of chest/thorax/trunk Anomalías de pecho/tórax/tronco hrdo:sgn_id_15040 Anomalie/absence des clavicules Clavicle absent/abnormal Clavicola assente/anomala Clavícula ausente/anormal Clavícula ausente/anómala Schlüsselbeinanomalie/-aplasie hrdo:sgn_id_15080 Epaule étroite/tombante Hombros estrechos/caídos Narrow/sloping shoulders Ombros estreitos/descaídos Spalle strette/cadenti schmale/abfallende Schultern hrdo:sgn_id_15120 Caixa torácica/tórax largo Caja torácica/tórax ancho Gabbia toracica/torace larga/o Thorax large/cylindrique Wide rib cage/thorax großer/fassförmiger Brustkorb hrdo:sgn_id_15160 Caixa torácica/tórax estreito Caja torácica/tórax estrecho Gabbia toracica/torace stretta/o Narrow rib cage/thorax Thorax étroit schmaler Brustkorb/Thorax hrdo:sgn_id_15200 Caixa torácica/tórax curto Caja torácica/tórax corto Gabbia toracica/torace corta/o Short rib cage/thorax Thorax court/tronc court kurzer Brustkorb/Thorax hrdo:sgn_id_15240 Caixa torácica/tórax longo Caja torácica/tórax largo Gabbia toracica/torace lunga/o Long rib cage/thorax Thorax long/tronc long langer Brustkorb/Thorax hrdo:sgn_id_15280 Asymmetric rib cage/thorax Caixa torácica/tórax assimétrico Caja torácica/tórax asimétrico Gabbia toracica/torace asimmetrica/o Thorax asymétrique asymmetrischer Brustkorb/thorax hrdo:sgn_id_15320 Flared chest/bell-shaped thorax/shield chest Pecho ensanchado en la parte inferior/tórax en forma de campana/de escudo Thorax évasé/en cloche/en bouclier Torace svasato/torace a campana/torace a scudo Tórax alargado/em forma de sino/escudo glockenförmiger Brustkorb hrdo:sgn_id_15360 Abnormally placed nipples Capezzoli in posizione anomala Ecartement excessif des mamelons Mamilos com localização anormal Situación anómala de los pezones anomale Position der Mamillen hrdo:sgn_id_15400 Capezzoli soprannumerari/politelia Mamelons surnuméraires/polytélie Mamilos supranumerários/politelia Pezones supernumerarios/politelia Supernumerary nipples/polythelia überzählige/akzessorische Mamillen/Polythelie hrdo:sgn_id_15440 Aplasie der Brustdrüse/fehlendes Brustgewebe Aplasie/absence de glande mammaire Assenza/aplasia del tessuto mammario/delle ghiandole mammarie Ausencia/aplasia mamaria/del tejido mamario Ausência/aplasia de tecido/glândula mamária Breast tissue/mammary gland absence/aplasia hrdo:sgn_id_15480 Ginecomastia / aumento/hiperplasia da mama/glandula mamária Ginecomastia/agrandamiento/hiperplasia mamaria/del pecho Ginecomastia/ingrossamento/iperplasia delle ghiandole mammarie Gynecomastia/breast/mammary gland enlargement/hyperplasia Gynäkomastie/Brustdrüsenhyperplasie Gynécomastie/hyperplasie de la glande mammaire hrdo:sgn_id_15520 Capezzoli assenti/ipoplasici Hipoplasia/ausencia de los pezones Hypoplastic/absent nipples Mamelons hypoplasiques/ombiliqués Mamilos hipoplásicos/ausentes hypoplastische/fehlende Mamillen hrdo:sgn_id_15560 Absent pectoral muscles Agénésie du grand pectoral Ausencia de músculos pectorales Muscoli pettorali assenti Musculos peitorais ausentes Pectoralmuskel-Agenesie hrdo:sgn_id_15600 Anomalias esternais/do esterno Anomalie dello sterno/sternali Anomalie des Sternums Anomalies du sternum/anomalies sternales Anomalías del esternón Sternal/sternum anomalies hrdo:sgn_id_15640 Pectus carinatum Pectus carinatum Pectus carinatum Pectus carinatum Pectus carinatum Tórax en quilla hrdo:sgn_id_15680 Pectus excavatum Pectus excavatum Pectus excavatum Pectus excavatum Pectus excavatum Tórax excavado hrdo:sgn_id_15720 Anomalias das costelas Anomalie delle coste Anomalie des côtes Anomalien der Rippen Anomalies of the ribs Anomalías de las costillas hrdo:sgn_id_15760 Anomalias do número das costelas Anomalie di numero delle coste Anomalie du nombre de côtes Anomalías en el número de costillas Rib number anomalies anomale Anzahl der Rippen hrdo:sgn_id_15800 Anomalias da estrutura das costelas Anomalie de structure des côtes/côtes fines/côtes courtes Anomalie di struttura delle coste Anomalías en la estructura de las costillas Rib structure anomalies Strukturanomalien der Rippen hrdo:sgn_id_16000 Anomalias da espinha, vértebras e pélvis Anomalie della spina dorsale, delle vertebre e del bacino Anomalie du dos/rachis/pelvis Anomalien der Wirbelsäule, Wirbel und des Beckens Anomalies of spine, vertebrae and pelvis Anomalías de columna vertebral, vértebras y pelvis hrdo:sgn_id_16030 Columna vertebral derecha Dos plat Espinha reta Spina dorsale rettilinearizzata Straight spine flacher Rücken hrdo:sgn_id_16060 Cifose Cifosi Cifosis Cyphose Kyphose Kyphosis hrdo:sgn_id_16090 Lordose Lordose Lordose Lordosi Lordosis Lordosis hrdo:sgn_id_16120 Escoliose Escoliosis Scoliose Scoliosi Scoliosis Skoliose hrdo:sgn_id_16150 Camptocormia Camptocormia Camptocormia Camptocormia Camptocormie Kamptokormia hrdo:sgn_id_16180 Columna vertebral rígida Espinha rígida Rachis raide/rigidité de la colonne vertébrale Rigid spine Spina dorsale rigida steifer Rücken/Wirbelsteife hrdo:sgn_id_16210 Espina bífida oculta Espinha bífida oculta Spina bifida occulta Spina bifida occulta Spina bifida occulta Spina bifida occulta hrdo:sgn_id_16240 Estenose raquidiana/do canal vertebral Estenosis de los canales espinales/conductos raquídeos Rachidian/spine canal stenosis Spinal(kanal)stenose Stenosi del canale spinale/rachidiano Sténose du canal rachidien hrdo:sgn_id_16270 Abnormal vertebral size/shape Anomalie de taille ou de forme des vertèbres Dimensioni/forma anomale delle vertebre Tamanho/forma anormal das vértebras Tamaño/forma anómala de las vértebras Wirbelkörperanomalie Größe/Form hrdo:sgn_id_16300 Platispondilia Platispondilia Platispondilia Platyspondylie Platyspondylie Platyspondyly hrdo:sgn_id_16330 Hipoplasia odontoidea Hipoplasia odontóide Hypoplasie odontoïde Ipoplasia dell'odontoide Odontoid hypoplasia odontoide Hypoplasie hrdo:sgn_id_16360 Ponctuations des vertèbres Punctated vertebrae Punteado epifisario de las vértebras Vertebre punteggiate Vértebras puntadas betonte Wirbelkörper hrdo:sgn_id_16390 Assenza/ritardo dell'ossificazione della spina dorsale/delle vertebre Ausência/atraso da ossificação da coluna/vértebras Défaut d'ossification des vertèbres Lack/delayed ossification of spine/vertebrae Retraso/deficiencia de la osificación en la columna vertebral/las vértebras Verknöcherungstörung der Wirbelkörper hrdo:sgn_id_16420 Anomalia delle epifisi vertebrali Anomalia vertebral epifisária Anomalie épiphysaire des vertèbres Anomalía epifisiaria de las vértebras Epiphyseal vertebral anomaly Epiphysenanomalie der Wirbelkörper hrdo:sgn_id_16450 Anomalia del disco intervertebrale Anomalia do disco intervertebral Anomalie des disques intervertébraux Anomalía del disco intervertebral Bandscheiben-Anomalie Intervertebral disk anomaly hrdo:sgn_id_16480 Anomalía en la calcificación del disco intervertebral Bandscheibenverkalkung Calcification des disques intervertébraux Calcificazione del disco intervertebrale Calcificação dos discos intervertebrais Intervertebral disk calcification hrdo:sgn_id_16510 Bandscheibenhernie Erniazione del disco intervertebrale Hernia del disco intervertebral Herniação dos discos intervertebrais Hernie discale Intervertebral disk herniation hrdo:sgn_id_16540 Anomalia da segmentação vertebral/hemivértebra Anomalia della segmentazione vertebrale/emivertebre Anomalía en la segmentación vertebral/hemivértebra Hemivertèbres/fusions vertébrales Vertebral segmentation anomaly/hemivertebrae vertebrale Segmentierungsdefekte/Hemivertebrae hrdo:sgn_id_16570 Anomalia da pélvis/ossos ilíacos estreitos/largos / anomalia do púbis Anomalia del bacino/ali iliache strette/larghe/anomalia del pube Anomalies du bassin/pelviennes/du pubis/ailes iliaques étroites/larges Anomalía de la pelvis/ala ilíaca estrecha/ancha/anomalía del pubis Becken-Anomalie/enger/breiter Beckenkamm/Schambein-Anomalie Pelvis anomaly/Narrow/broad iliac wings/pubis abnormality hrdo:sgn_id_16600 Sacrococcygeal teratoma Steißteratom Teratoma sacrococcigeo Teratoma sacrococcígeo Teratoma sacrocoxígeo Tératome sacro-coccygien hrdo:sgn_id_16630 Anomalia del sacro/del sacro-coccige Anomalia sacrococcígea/sagrada Anomalie du sacrum/coccyx/sacro-coccyx Anomalía del sacro-coxis/sacro Sacro-coccyx/sacrum anomaly sakrokokzygeale Anomalie hrdo:sgn_id_16660 Cavidad/fóvea en el área sacra Cavità/fossetta sacrale Fossette sacro-coccygienne Sacral sinus/dimple Sakralgrübchen/Pilonidalsinus Seio/fosseta sagrada hrdo:sgn_id_16690 Agenesia del sacro-coccige Agenesia sacrococcígea Agenesia sacrocoxígea Agénésie du sacro-coccyx Sacrococcyx agenesis sakrokokzyeale Agenesie hrdo:sgn_id_16720 Duplicación de vértebras en la región sacra Duplication du sacrum Duplicazione del sacro/sacrale Duplicação do sacro/sagrada Kreuzbeinverdopplung/Sacrum-Duplikation Sacrum/sacral duplication hrdo:sgn_id_16750 Anomalias das articulações sacroílicas Anomalie delle articolazioni sacro-iliache Anomalien des Sakroiliakalgelenkes Anomalies des articulations sacro-iliaques Anomalías en las articulaciones sacroilíacas Sacroiliac joints anomalies hrdo:sgn_id_16780 Coxa profunda/Protrusio acetabuli Coxa profunda/acetabular protrusion Coxa profunda/protrusion acétabulaire Coxa profunda/protrusione acetabolare Coxa profunda/protusão acetabular Protrusión del cotilo/acetabular hrdo:sgn_id_17000 Anomalias da parede abdominal Anomalie della parete addominale Anomalien der Abdominalwand/Bauchwand/Bauchdecke Anomalies de la paroi abdominale Anomalies of the abdominal wall Anomalías de la pared abdominal hrdo:sgn_id_17110 Celosomia Celosomia Celosomía Celossomia Célosomie/cœlosomie Zelosomie hrdo:sgn_id_17220 Omfalocele/esonfalo Omphalocele/exomphalos Omphalocèle Omphalozele/Nabelschnurbruch Onfalocele/exónfalo Onfalocelo/exonfalo hrdo:sgn_id_17330 Gastroschisi Gastroschisis Gastroschisis/Bauchspalte Gastrosquise Gastrosquisis Laparoschisis hrdo:sgn_id_17440 Absent/hypotonic/flaccid abdominal wall muscles Ausencia/hipotonia/flacidez de los músculos de la pared abdominal Hypotonie/absence des muscles abdominaux Muscoli della parete addominale assenti/ipotonici/flaccidi Músculos da parede abdominal ausentes/hipotónicos/flácidos hypotone/fehlende Bauchwandmuskulatur hrdo:sgn_id_17550 Ernie Herniae Hernias Hernien Hernies Hérnia hrdo:sgn_id_17660 Ernia crurale/inguino-scrotale/inguinale Hernia inguinal/inguinoescrotal/crural Hernie inguinale/hernie inguino-scrotale/hernie crurale Hérnia inguinal/inguinoscrotal/crural Inguinal/inguinoscrotal/crural hernia Leistenbruch/Schenkelhernie/inguinoskrotale Hernie hrdo:sgn_id_17770 Ernia ombelicale Hernia umbilical Hernie ombilicale Hérnia umbilical Nabelbruch/Nabelhernie Umbilical hernia hrdo:sgn_id_17880 Fistule de l'ouraque/persistance du canal de l'ouraque Fístula del uraco/del uraco permeable Patent urachus/fistula of the urachus Uraco pervio/fistola dell'uraco persistierender Urachus/Urachusfistel Úraco patente / fístula do úraco hrdo:sgn_id_18000 Anomalias globais dos membros superiores e inferiores Anomalie globali degli arti superiori e inferiori Anomalien der Oberen und Unteren Extremitäten Anomalies globales des membres supérieurs et inférieurs Anomalías de extremidades superiores e inferiores Global upper and lower limbs anomalies hrdo:sgn_id_18080 Arti corti/micromelia/brachimelia Extremidades cortas/micromelia/braquimelia Membros curtos/micromelia/braquimelia Micromélie/membres courts/brachymélie Short limbs/micromelia/brachymelia kurze Gliedmaßen/Mikromelie/Brachymelie hrdo:sgn_id_18160 Micromelia rizomelica Micromelia rizomélica Micromelia rizomélica Micromélie rhizomélique Rhizomelic micromelia rhizomele Mikromelie hrdo:sgn_id_18240 Mesomelic micromelia Micromelia mesomelica Micromelia mesomélica Micromelia mesomélica Micromélie mésomélique mesomele Mikromelie hrdo:sgn_id_18320 Arti lunghi/dolicostenomelia Extremidades largas/dolicostenomelia Long limbs/dolichostenomelia Membres longs/dolichosténomélie Membros longos/dolicostenomelia lange Extremitäten/Dolichostenomelie hrdo:sgn_id_18400 Amelia/tetramelia/emiamelia Amelia/tetramelia/hemimelia Amelia/tetramelia/hemimelia Amelia/tetramelia/hemimelia Amelie/Tetramelie/Hemimelie Amélie/tétramélie/hémiamélie hrdo:sgn_id_18480 Ectromelia/absence of one or more limb segments Ectromelia/assenza di uno o più segmenti degli arti Ectromelia/ausencia de uno o más segmentos de las extremidades Ectromelia/ausência de um ou mais segmentos dos membros Ectromélie/absence d'un ou plusieurs segments de membres Ektromelie/fehlende(s) Segment(e) der Gliedmaßen hrdo:sgn_id_18560 Focomelia Focomelia Focomelia Phocomelia Phocomélie Phokomelie hrdo:sgn_id_18640 Afalangia/assenza/ipoplasia/aplasia delle ossa falangee delle mani e dei piedi Afalangia/ausencia/hipoplasia/aplasia de falanges en manos y pies Afalangia/ausência/hipoplasia/aplasia das falanges das mãos e dos pés Aphalangia/hands and feet phalangeal bones absence/hypoplasia/aplasia Aphalangie/fehlende phalangeale Knochen der Hände und Füße/ Aphalangie/hypoplasie/aplasie des phalanges des mains et des pieds hrdo:sgn_id_18720 Dimelia/duplicazione degli arti/dimelia ulnare/fibulare/diplopodia Duplicación de una extremidad/dimelia ulnar/fibular/diplopodia Duplication d'un membre/dimélie/dimélie cubitale/dimélie fibulaire/diplopodie Duplicação do membro / dimelia / dimelia/diplopodia ulnar/fibular Extremitätenverdopplung/Dimelie/ulnare/fibuläre Dimelie/Diplodie Limb duplication/dimelia/ulnar/fibular dimelia/diplopodia hrdo:sgn_id_18800 Arthrogrypose Arthrogrypose/Arthrogryposis Arthrogryposis Artrogripose Artrogriposi Artrogriposis hrdo:sgn_id_18880 Bandas aminióticas/cutâneas / teia na articulações Bandas/bridas cutáneas/amióticas de las articulaciones Bande amniotiche/cutanee/pterigio delle articolazioni Brides cutanées/brides amniotiques/sillons congénitaux Cutaneous/amniotic bands/webbing of joints kutanes/amniotisches Band/Pterygium hrdo:sgn_id_18960 Bride poplitée Popliteal web Pterigio popliteo Síndrome de la membrana poplítea Teia poplítea popliteale Pterygien hrdo:sgn_id_19000 Anomalias segmentares dos membros superiores Anomalie segmentali degli arti superiori Anomalies des segments des membres supérieurs Anomalías en los segmentos de las extremidades superiores Upper limb segmental anomalies segmentale Anomalien der oberen Extremität hrdo:sgn_id_19060 Asimetría/hemiatrofia/hemihipertrofia de las extremidades superiores Asimmetria/emiatrofia/emi-ipertrofia degli arti superiori Assimetria/hemiatrofia/hemihipertrofia dos membros superiores Asymmetrie/Hemiatrophie/Hemihypertrophie der oberen Extremität Asymétrie/hémiatrophie/hémi-hypertrophie des membres supérieurs Upper limb asymmetry/hemiatrophy/hemihypertrophy hrdo:sgn_id_19120 Anomalia di struttura/posizione/elevazione congenita scapola/anomalia Sprengel Anomalia estrutural/posicional/elevação congénita da escápula / de Sprengel Anomalie de structure/position/surélévation congénitale de l'omoplate/Sprengel Anomalía estructural/posicional/de elevación congénita/Sprengel de la escápula Scapula structural/position anomaly/congenital elevation/Sprengel anomaly Struktur-/Lageanomalie der Scapula/Schulterblatthochstand/Sprengel-Anomalie hrdo:sgn_id_19180 Anomalia/assenza/agenesia/ipoplasia dell'omero/omero varo congenito Anomalia/ausência/agenesia/hipoplasia do úmero / úmero varus congénito Anomalie/agénésie/hypoplasie de l'humérus/humérus absent/varus congénital Anomalía/ausencia/agenesia/hipoplasia/aducción congénita del húmero Humerus anomaly/absence/agenesis/hypoplasia/congenital humerus varus fehlender/anomaler Oberarmknochen hrdo:sgn_id_19240 Anomalia/assenza/agenesia/ipoplasia del radio/raggio radiale anomalo Anomalia/ausência/agenesia/hipoplasia do rádio / anomalia do eixo radial Anomalie du radius/absent/agénésie/hypoplasie du radius/rayon radial anormal Anomalía/ausencia/agenesia/hipoplasia del radio/del rayo radial Radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray Radiusaanomalie/-agenesie/-hypoplasie/Aplasie des radialen Strahls hrdo:sgn_id_19300 Anomalia/agenesia/hipoplasia do cúbito/ulnar /anomalia do eixo cubital Anomalia/assenza/agenesia/ipoplasia cubitale/ulna/raggio cubitale/ulna anomalo Anomalie du cubitus/agénésie/hypoplasie du cubitus/rayon cubital anormal Anomalie/Hypoplasie der Ulna/Cubitus/Anomalie des ulnaren/kubitalen Strahls Anomalía/ausencia/agenesia/hipoplasia ulnar/cubital/del rayo ulnar/cubital Ulnar/cubital anomaly/absence/agenesis/hypoplasia/abnormal ulnar/cubital ray hrdo:sgn_id_19360 Anomalia transversa do membro superior (excluindo a mão) Anomalia trasversale degli arti superiori (mani escluse) Anomalie transversale du membre supérieur (autre que main) Anomalía transversal de las extremidades superiores (excluyendo la mano) Upper limb transverse anomaly (excluding hand) transversale Anomalie der oberen Extremität (exkl. Hand) hrdo:sgn_id_19420 Anomalias do cotovelo (excluindo luxação) Anomalie del gomito (esclusa la lussazione) Anomalie des Ellenbogens (außer Verrenkung) Anomalie du coude (autre que luxation) Anomalía del codo (excluyendo la luxación) Elbow anomalies(excluding luxation) hrdo:sgn_id_19480 Radioulnar synostosis Sinostose radioulnar Sinostosi radio-ulnare Sinostosis radio-ulnar Synostose radio-cubitale radioulnare Synostose hrdo:sgn_id_19540 Fusione omero-radiale Fusión húmero-radial Fusão umerorradial Humeroradial fusion Synostose huméro-radiale humero-radiale Fusion hrdo:sgn_id_19600 Anomalia da articulação umerorradial Anomalia dell'articolazione omero-ulnare Anomalía de la articulación húmero-ulnar Articulation huméro-cubitale anormale Humeroulnar joint anomaly humero-ulnare Gelenkanomalie hrdo:sgn_id_19660 Cubito valgo Cubitus valgus Cubitus valgus Cubitus valgus Cubitus valgus Cubitus valgus hrdo:sgn_id_19720 Anomalias do punho/carpo Anomalie del polso/carpali Anomalie du poignet/carpe Anomalías de la muñeca/del carpo Handgelenk-/karpale Anomalien Wrist/carpal anomalies hrdo:sgn_id_19780 Carpal bones fusion/synostosis Fusion des os du carpe/synostose carpienne Fusión/sinostosis de los huesos carpianos Fusão/sinostose do carpo Sinostosi/fusione delle ossa carpali Verschmelzung der Handwurzelknochen/Synostose hrdo:sgn_id_19840 Deformidad de Madelung Deformidade de Madelung Deformità di Madelung Déformation de Madelung Madelung's deformity Madelung-Deformität hrdo:sgn_id_2000 Anomalias do crânio Anomalie del cranio Anomalies du crâne Anomalías del cráneo/craneales Schädel-/ kraniale Anomalien Skull/cranial anomalies hrdo:sgn_id_20000 Anomalias das mãos Anomalie delle mani Anomalie des mains Anomalien der Hände Anomalies of hands Anomalías en las manos hrdo:sgn_id_20020 Agenesia/assenza delle mani Agenesia/ausencia de las manos Agenesia/ausência da mão Agenesie/Fehlen der Hand Agénésie de la main/main absente Hand agenesis/absence hrdo:sgn_id_20040 Anomalie de position de la main/main bote radiale Mano deviata radialmente Mano zamba radial Mão bota radial Radial club hand radiale Klumphand hrdo:sgn_id_20060 Mains courtes/brachydactylie Mani corte/brachidattilia Manos cortas/braquidactilia Mãos pequenas/braquidactilia Short hand/brachydactyly kurze Hand/Brachdakytylie hrdo:sgn_id_20080 Large hand Mains grandes/larges Mani grandi Manos grandes Mãos grandes große Hände hrdo:sgn_id_20100 Mains petites/acromicrie Mani piccole/acromicria Manos pequeñas/acromicria Mãos pequenas/acromiria Small hand/acromicria kleine Hände/Akromikrie hrdo:sgn_id_20120 Long hand/arachnodactyly Mains longues/arachnodactylie Mani lunghe/aracnodattilia Manos largas/aracnodactilia Mãos longas/aracnodactilia lange Hände/Arachnodaktylie hrdo:sgn_id_20140 Dreizackhand/gespaltene Hand/Anomalie des medianen Strahls Main en trident/main en pince/main fendue/rayon médian anormal Mano a tridente/mano a chela di aragosta/raggio mediano anomalo Mano en forma de tridente/hendida/con el rayo medio anormal Mãos em forma de tridente/mão fendida/anomalias do eixo mediano Trident hand/split hand/abnormal median ray hrdo:sgn_id_20160 Claw hand/retracted fingers Klauenhand/Beugekontrakturen der Finger Mains en griffe/rétraction des doigts Mano ad artiglio/dita retratte Mano en garra/con dedos doblados Mão em garra/retração digital hrdo:sgn_id_20180 Anomalias dos metacarpos/sinal de Archibald Anomalie dei metacarpi/segno di Archibald Anomalie der Mittelhand Anomalie des métacarpes/signe d'Archibald Anomalías metacarpianas/signo clínico de Archibald Metacarpal anomalies/Archibald's sign hrdo:sgn_id_20200 Piega palmare unica/trasversale Pli palmaire transverse/unique/pli simien Pliegue simiesco/transversal/pliegue palmar único Prega palmar transversa única / prega simiesca Simian crease/transverse/unique palmar crease Vierfingerfurche/transversale/singuläre Palmarfurche hrdo:sgn_id_20220 Abnormal dermatoglyphics Dermatoglifi anomali Dermatoglifo anómalos Dermatoglyphes anormaux Dermatóglifos anormais anomale Dermatoglyphen hrdo:sgn_id_20240 Flat palm Palma plana Palmas planas Palmo piatto Paume plate flache Handfläche hrdo:sgn_id_20260 Absence of palmar creases Assenza delle pieghe palmari Ausencia de arrugas palmares Ausência das pregas palmares Paume lisse fehlende Palmarfurchen hrdo:sgn_id_20280 Arrugas palmares profundas Deep palmar creases Paume capitonnée Pieghe palmari profonde Pregas palmas profundas viele/tiefe Palmarfurchen hrdo:sgn_id_20300 Dedos com forma/comprimento irregular Irregular length/shape of fingers Longitud/forma irregular de los dedos de las manos Longueur/forme irrégulières des doigts Lunghezza/forma anomale delle dita delle mani ungleichmäßige Länge/Form der Finger hrdo:sgn_id_20320 Macrodactilia/hipertrofia de los dedos/megalodactilia (manos) Macrodactilia/hipertrofia/megalodactilia dos dedos (mão) Macrodactylie/hypertrophie des doigts/mégalodactylie (main) Macrodactyly/fingers hypertrophy/megalodactyly (hand) Macrodattilia/ipertrofia delle dita delle mani/megalodattilia (mani) Makrodaktylie/Fingerhypertrophie/Megalodaktylie (Hand) hrdo:sgn_id_20340 Dedos fusiformes Dedos fusiformes Dita a fuso Doigts fusiformes Spindle shaped fingers spindelförmige Finger hrdo:sgn_id_20360 Dedos afilados Dedos afilados Dita a bacchetta di tamburo Doigts en baguette de tambour/hippocratisme digital Tapered fingers Trommelschlegelfinger hrdo:sgn_id_20380 Dedos gruesos/en forma de espiga (manos) Dedos largos Dita spesse/a tappo di sughero Doigts épais/boudinés Thick/dowel fingers dicke Finger hrdo:sgn_id_2040 Macrocefalia/macrocrania/megalocefalia/megacefalia Macrocefalia/macrocrania/megalocefalia/megacefalia Macrocefalia/macrocrania/megaloencefalia/macroencefalia Macrocephaly/macrocrania/megalocephaly/megacephaly Macrocéphalie/macrocrânie/mégacéphalie Makrozephalie/Makrokranie/Megalozephalie/Megazephalie hrdo:sgn_id_20400 Hipoplasia da falange terminal/terceira falange dos dedos das mãos Hipoplasia de la falange terminal/de la tercera falange (manos) Hypoplasie de la phalange distale du doigt Hypoplasie der distalen/dritten Fingerknochen Ipoplasia terminale/del terzo osso falangeale delle dita delle mani Terminal/third phalangeal bone of fingers hypoplasia hrdo:sgn_id_20420 Alargamento/desvio da falange terminal/terceira falange dos dedos das mãos Deviazione/slargamento terminale/del terzo osso falangeale delle dita delle mani Ensanchamiento/desviación de la falange terminal/de la tercera falange (manos) Phalange distale du doigt large/déviée Terminal/third phalangeal bone of fingers broadened/deviated vergrößerte/verbreiterte distale/dritte Fingerknochen hrdo:sgn_id_20440 Sindactilia de los dedos/interdigital de la palma (en las manos) Sindactilia dos desdos das mãos/palma interdigital Sindattilia delle dita della mani/interdigitale Syndactylie des doigts/palmure interdigitale Syndactyly of fingers/interdigital palm Syndaktylie der Finger/Schwimmhautbildung hrdo:sgn_id_20460 Sinfalangia delle dita delle mani Sinfalangia dos dedos Sinfalangismo de los dedos de las manos Symphalangie des doigts Symphalangismus/Symphalangie der Finger Symphalangy of fingers hrdo:sgn_id_20480 Polidactilia/hexadactilia do membro superior Polidactilia/hexadactilia en las extremidades superiores Polidattilia/esadattilia dell'arto superiore Polydactylie du membre supérieur/hexadactylie (main) Polydaktylie/Hexadaktylie der oberen Extremität Upper limb polydactyly/hexadactyly hrdo:sgn_id_20500 Polidactilia preaxial (en las manos) Polidactilia pré-axial (mão) Polidattilia preassiale (mani) Polydactylie préaxiale (main) Preaxial polydactyly (hand) präaxiale Polydaktylie (Hand) hrdo:sgn_id_20520 Polidactilia postaxial (en las manos) Polidactilia pós-axial (mão) Polidattilia postassiale (mani) Polydactylie postaxiale (main) Postaxial polydactyly (hand) postaxiale Polydaktylie (Hand) hrdo:sgn_id_20540 Oligodactilia/ectrodactilia de los dedos de las manos Oligodactilia/ectrodactilia dos dedos Oligodactylie des doigts/ectrodactylie Oligodactyly/ectrodactyly of fingers Oligodaktylie/Ektrodaktylie der Finger Oligodattilia/ectrodattilia delle dita delle mani hrdo:sgn_id_20560 Camptodactilia de los dedos de las manos Camptodactilia dos dedos Camptodactylie des doigts Camptodactyly of fingers Camptodattilia delle dita delle mani Kamptodaktylie der Finger hrdo:sgn_id_20580 Camptodactylie de tous les doigts Complete claw hand/camptodactyly of all fingers Mano completamente ad artiglio/camptodattilia di tutte le dita delle mani Mano en garra/ camptodactilia de todos los dedos de las manos Mão em garra/camptodactilia de todos os dedos komplette Klauenhand/Kamptodaktylie aller Finger hrdo:sgn_id_20600 Camptodactilia de algunos dedos de las manos Camptodactilia de alguns dedos Camptodactylie d'un ou deux doigts Camptodactyly of some fingers Camptodattilia di alcune dita delle mani Kamptodaktylie einiger Finger hrdo:sgn_id_20620 Clinodactilia del dedo meñique de las manos Clinodactilia do quinto dedo Clinodactylie du 5ème doigt Clinodactyly of fifth finger Clinodattilia del quinto dito delle mani Klinodaktylie des 5. Fingers hrdo:sgn_id_20640 Clinodactilia de los dedos 1, 2, 3, 4 /superposición de los dedos Clinodactilia dos dedos 1, 2, 3, 4/ dedos sobrepostos Clinodactylie des doigts (1,2,3,4)/chevauchement des doigts Clinodactyly of fingers 1,2,3,4/overlapping fingers Clinodattilia delle dita 1,2,3, 4/dita sovrapposte delle mani Klinodaktylie der Finger 1,2,3,4/überlappende Finger hrdo:sgn_id_20660 Desviación ulnar de los dedos de las manos Desvio cubital dos dedos Deviazione ulnare delle dita delle mani Doigts coup de vent cubital/déviation cubitale Ulnar deviation of fingers Ulnardeviation der Finger hrdo:sgn_id_20680 Daumenhypoplasie/-aplasie/fehlender Daumen Hipoplasia/aplasia/ausencia del dedo pulgar Hipoplasia/aplasia/ausência do polegar Ipoplasia/aplasia/assenza del pollice della mano Pouce hypoplasique/absent/aplasie du pouce Thumb hypoplasia/aplasia/absence hrdo:sgn_id_20700 Anomalias dos polegares (excluindo hipoplasia) Anomalie del pollice della mano (esclusa l'ipoplasia) Anomalie des Daumens (exkl. Hypoplasie) Anomalie du pouce (autre que hypoplasie) Anomalías del dedo pulgar (excluyendo la hipoplasia) Thumb anomalies (excluding hypoplasia) hrdo:sgn_id_20720 Broad/bifid thumb Polegar largo/bífido Pollice della mano largo/bifido Pouce large Pulgar grueso/bífido breiter/gespaltener Daumen hrdo:sgn_id_20740 Fingerlike/triphalangeal thumb Polegar digital/trifalângico Pollice della mano trifalangeo/digitalizzato Pouce fingerlike/triphalangisme du pouce/pouce triphalangé Pulgar digitalizado/trifalángico fingerähnlicher/triphalangealer Daumen hrdo:sgn_id_20760 Implantation proximale du pouce Polegar de implatação proximal Pollice della mano a impianto prossimale Proximally set thumb Pulgar de implantación proximal proximal ansetzender Daumen hrdo:sgn_id_20780 Clasp thumb/thumb adduction/distal thumb phalangeal bone deviated/large Polegar fechado/aduzido / desvio/alargamento da falange distal do polegar Pollice a fermaglio/adduzione pollice/falange distale del pollice deviata/grande Pouce en adduction/déviation du pouce/phalange distale du pouce large/déviée Pulgar incluido/aducción del pulgar/falange distal del pulgar desviada/grande adduzierter Daumen/Daumenendglied in Beugestellung hrdo:sgn_id_2080 Microcefalia Microcefalia Microcefalia Microcephaly Microcéphalie Mikrozephalie hrdo:sgn_id_20800 Daumenduplikation/gespaltener Knochen des Daumenendgliedes Duplicación del pulgar/de la falange distal bífida del pulgar Duplication du pouce/phalange distale bifide Duplicazione del pollice/osso bifido della falange distale del pollice Duplicação do polegar/falange distal do polegar bífida Thumb duplication/distal bifid thumb phalangeal bone hrdo:sgn_id_20820 Anchilosi del pollice della mano Anquilose do polegar Anquilosis del pulgar Daumenankylose Pouce ankylosé Thumb ankylosis hrdo:sgn_id_21000 Anomalias segmentais dos membros inferiores Anomalie segmentali degli arti inferiori Anomalies des segments des membres inférieurs Anomalías segmentarias de las extremidades inferiores Lower limb segmental anomalies Segmentanomalien der unteren Extremität hrdo:sgn_id_21040 Fusion des membres inférieurs/sirène/sirénomélie Sirenomelia / fusão dos membros inferiores / em forma de sereia Sirenomelia/fusione degli arti inferiori/fusione a sirena Sirenomelia/mermaid/fusión de las extremidades inferiores Sirenomelia/mermaid/lower limb fusion Sirenomelie/Fusion der Beine hrdo:sgn_id_21080 Anomalia/assenza/agenesia/ipoplasia/biforcazione del femore Anomalia/ausência/agenesia/hipoplasia/bifurcação do fémur Anomalie du fémur/hypoplasie fémorale/agénésie du fémur/bifurcation fémorale Anomalie/Hypoplasie des Femurs/fehlender/gespaltener Oberschenkelknochen Bifurcación/hipoplasia/agenesia/ausencia/anomalía de fémur Femur anomaly/absence/agenesis/hypoplasia/bifurcation hrdo:sgn_id_21120 Anomalia (no tibia corta)/assenza/agenesia/ipoplasia tibia/anomalia raggio tibia Anomalia da tíbia (excluindo curta)/agenesia/hipoplasia/anomalia do eixo tibial Anomalie du rayon tibial/tibia (sauf court)/aplasie/agénésie/hypoplasie tibiale Anomalie/Hypoplasie der Tibia (exkl. Verkürzung)/Anomalie des tibialen Strahls Hipoplasia/agenesia/ausencia/anomalía de tibia (excl.corta)/anomalía rayo tibial Tibia anomaly (excluding short)/absence/agenesis/hypoplasia/tibial ray anomaly hrdo:sgn_id_21160 Anomalia do perônio (excl. curto)/agenesia/hipoplasia/anomalia do eixo peronial Anomalia(no perone corto)/assenza/agenesia/ipoplasia perone/raggioperone anomalo Anomalie du péroné (sauf court)/du rayon péronier /aplasie/hypoplasie fibulaire Anomalie/Hypoplasie der Fibula (exkl. Verkürzung)/Anomalie des fibulären Strahls Fibula anomaly (excluding short)/absence/agenesis/hypoplasia/fibular ray anomaly Hipoplasia/agenesia/ausencia/anom.de peroné (excl. corto)/anomalía rayo peroneal hrdo:sgn_id_2120 Turricefalia/ossicefalia/acrocefalia Turricefalia/oxicefalia/acrocefalia Turricefalia/oxicefalia/acrocefalia Turricephaly/oxycephaly/acrocephaly Turricéphalie/oxycéphalie/acrocéphalie Turrizephalus/Oxyzephalie/Akrozephalie hrdo:sgn_id_21200 Anomalias transversas do membro inferior (excluindo pé) Anomalie transversale du membre inférieur autre que pied Anomalie trasversali degli arti inferiori (piedi esclusi) Anomalías tranversales de las extremidades inferiores (excluyendo pies) Lower limb transverse anomalies (excluding feet) transversale Anomalie der unteren Extremität (exkl. Fuß) hrdo:sgn_id_21240 Ausência/anomalia da rótula (excluindo luxação) Patella absent/abnormal (excluding luxation) Rotula assente/anomala (esclusa la lussazione) Rotule absente/anormale (sauf luxation) Rótula ausente /anormal (excluyendo luxación) fehlende Kniescheibe/Patellaanomalie (exkl. Luxation) hrdo:sgn_id_21280 Anomalia/fusione/sinostosi tarsale Anomalia/fusão/sinostose do tarso Anomalie/fusion/synostose du tarse/tarsienne Sinostosis/fusión/anomalía tarsal Tarsal anomaly/fusion/synostosis tarsale Anomalie/Fusion/Synostose hrdo:sgn_id_21320 Anomalie der unteren Extremitäten/Hemiatrophie/Hemihypertrophie Asimmetria/emiatrofia/emi-ipertrofia degli arti inferiori Assimetria/hemiatrofia/hemihipertrofia dos membros inferiores Asymétrie des membres inférieurs/hémiatrophie/hémihypertrophie Hemihipertrofia/hemiatrofia/asimetría de las extremidades inferiores Lower limb asymmetry/hemiatrophy/hemihypertrophy hrdo:sgn_id_21360 Diastasi tibio-fibulare Diastasia tibioperonial Diastasis tibio-péronier Diástasis tibioperonea Tibiofibular diastasis tibiofibuläre Diastase hrdo:sgn_id_21400 Anomalias dos joelhos (excluindo rótula) Anomalie del ginocchio (esclusa la rotula) Anomalie der Knie (außer Patella) Anomalie du genou (autre que de la rotule) Anomalías de rodilla (excluyendo rótula) Knee anomalies (excluding patella) hrdo:sgn_id_21440 Genu valgum Genu valgum Genu valgum Genu valgum/X-Beine Ginocchio valgo Rodilla vaga hrdo:sgn_id_21480 Genu varum Genu varum Genu varum Genu varum/O-Beine Ginocchio varo Rodilla vara hrdo:sgn_id_21520 Genu recurvatum Genu recurvatum Genu recurvatum Genu recurvatum Ginocchio recurvato Rodilla en recurvatum hrdo:sgn_id_21560 'Deformidad de las rodillas como ''barridas por el viento''' Deformação 'windswept' dos joelhos Deformità a colpo di vento delle ginocchia Genou en coup de vent latéral/désaxation du genou Lateraldeviation der Kniegelenke Wind-swept deformity of knees hrdo:sgn_id_2160 Craneoestenosis/craneosinostosis/sinostosis de las suturas del cráneo Cranioestenose/craniossionostose/sinostose das suturas Craniostenosi/craniosinostosi/sinostosi suturale Craniostenosis/craniosynostosis/sutural synostosis Craniosténose/craniosynostose/soudure précoce d'une suture Kraniostenose/Kraniosynostose/Suturale Synostose hrdo:sgn_id_21600 Ankle anomalies Anomalias do tornozelo Anomalie de la cheville Anomalie delle caviglie Anomalie des Knöchels Anomalías de tobillo hrdo:sgn_id_21640 Klumpfuß/Metatarsus primus varus Metatarso varo/pie varo Pied bot varus équin/metatarsus varus Piede talo-varo/metatarso varo Pé varo / metatarso varo Talipes-varus/metatarsal varus hrdo:sgn_id_21680 Knickfuß Pie valgo/metatarso valgo Pied bot talus valgus Piede talo-valgo Pé valgo Talipes-valgus hrdo:sgn_id_2200 Dolichocephaly/scaphocephaly Dolichocéphalie/scaphocéphalie Dolichozephalie/Skaphozephalie Dolicocefalia/escafocefalia Dolicocefalia/escafocefalia Dolicocefalia/scafocefalia hrdo:sgn_id_22000 Anomalias dos pés Anomalie del piede Anomalie des Fußes Anomalie du pied Anomalía de pie Foot anomalies hrdo:sgn_id_22020 Long foot/arachnodactyly of toes Pie largo/aracnodactilia de dedos del pie Pied long/arachnodactylie des orteils Piede lungo/aracnodattilia delle dita dei piedi Pé longo/aracnodactilia dos dedos dos pés langer Fuß/Arachnodaktylie der Zehen hrdo:sgn_id_22040 Pie corto/braquidactilia de dedos del pie Pied court/brachydactylie des orteils Piede corto/brachidattilia delle dita dei piedi Pé curto/braquidactilia dos dedos dos pés Short foot/brachydactyly of toes kurzer Fuß/Brachydaktylie der Zehen hrdo:sgn_id_22060 Broad foot Pie ancho Pied large/pied grand Piede largo Pé largo großer/breiter Fuß hrdo:sgn_id_22080 Pes talus Pie talo Pied en piolet Piede talo Pés talus Sichelfuß hrdo:sgn_id_22100 Hohlfuß Pes cavus Pie arqueado Pied creux/pied convexe congénital Piede cavo Pé cavus hrdo:sgn_id_22120 Flat foot Pie plano Pied plat Piede piatto Plattfuß Pé plano hrdo:sgn_id_22140 Pie pequeño Pied petit Piede piccolo Pé pequeno Small foot kleiner Fuß hrdo:sgn_id_22160 Anomalie des mittleren Strahls/Spaltfuß Eixo mediano anormal/pé fendido Median ray abnormal/split foot Raggio medio anomalo/schisi del piede Rayo mediano anormal/pie dividido Rayon médian du membre inférieur anormal/pied fendu hrdo:sgn_id_22180 Adaktylie/Apodie/fehlende Füße/Acheiropodie Ausencia de pie/apodia/adactilia/aqueiropodia Ausência do pé/apodia/adactilia/aqueiropodia Foot absent/apodia/adactyly/acheiropodia Pied absent/apodie/adactylie/achéiropodie Piede assente/apodia/adattilia/acheiropodia hrdo:sgn_id_22200 Foot hypoplasia/hypotrophy Hipoplasia/hipotrofia de pie Hipoplasia/hipotrofia dos pés Hypoplasie/Hypotrophie der Füße Ipoplasia/ipotrofia del piede Pieds hypoplasiques/hypotrophiques hrdo:sgn_id_22220 Polidactilia dos dedos Polidactilia en pies Polidattilia delle dita dei piedi Polydactylie du membre inférieur/hexadactylie (pied) Polydactyly of toes Polydaktylie der Zehen hrdo:sgn_id_22240 Polidactilia preaxial de pies/duplicación de dedo gordo del pie Polidactilia pré-axial dos dedos dos pés/duplicação do halux Polidattilia preassiale delle dita dei piedi/duplicazione dell'alluce Polydactylie préaxiale (membre inférieur)/duplication du gros orteil Preaxial polydactyly of toes/big toe duplication präaxiale Polydaktylie der Zehen/Duplikation der Großzehe hrdo:sgn_id_22260 Polidactilia postaxial de dedos del pie/dedo pequeño del pie supernumerario Polidactilia pós-axial dos dedos dos pés/quinto dedo do pé supranumerário Polidattilia postassiale delle dita dei piedi/quinto dito soprannumerario Polydactylie postaxiale (membre inférieur)/5ème orteil surnuméraire Postaxial polydactyly of toes/fifth supernumerary toe postaxiale Polydaktylie der Zehen/überzähliger fünfter Zeh hrdo:sgn_id_22280 Oligodactilia/ectrodactilia de pies Oligodactilia/ectrodactilia dos dedos dos pés Oligodactylie des orteils/ectrodactylie des orteils Oligodactyly/ectrodactyly of toes Oligodaktylie/Ektrodaktylie der Zehen Oligodattilia/ectrodattilia delle dita dei piedi hrdo:sgn_id_22300 Deformidad de flexión dedos pie(excl.gordo)/dedo en martillo/camptodactilia pies Deformidade de flexão dos dedos dos pés (excl. halux)/em martelo/camptodactilia Deformità in flessione dita(alluce escluso)/dita a martello/camptodattilia dita Fehlbildung der Zehen/Hammerzehe (exkl. Großzehe)/Kamptodaktylie Flexion deformity of toes (excluding big toe)/hammer toe/camptodactyly of toes Orteils en marteau (autre que gros orteil)/camptodactylie des orteils hrdo:sgn_id_22320 Claw toes/retracted toes Dedos de pie en garra/retráctiles Dedos dos pés em garra/retraídos Klauenzehe/Beugekontrakturen der Zehen Orteils en griffe/rétraction des orteils Piede ad artiglio/dita retratte hrdo:sgn_id_22340 Sindactilia de pies Sindactilia dos dedos dos pés Sindattilia delle dita dei piedi Syndactylie des orteils Syndactyly of toes Syndaktylie der Zehen hrdo:sgn_id_22360 Fehlstellung der Zehen Impianto anomalo delle dita dei piedi Mala implantación de dedos del pie Malimplantation of toes Má implantação dos dedos dos pés Orteils mal implantés/mauvaise implantation des orteils hrdo:sgn_id_22380 Comprimento/forma irregular dos dedos dos pés Forma/longitud irregular de dedos del pie Irregular length/shape of toes Lunghezza/forma irregolari delle dita dei piedi Taille ou forme irrégulière des orteils ungleichmäßige Länge/Form der Zehen hrdo:sgn_id_2240 Trigonocefalia Trigonocefalia Trigonocefalia Trigonocephaly Trigonocéphalie Trigonozephalie/Dreieckschädel hrdo:sgn_id_22400 Macrodactilia/megalodactilia de pies Macrodactilia/megalodactilia dos dedos dos pés Macrodactylie d'un orteil/mégalodactylie (pied) Macrodactyly/megalodactyly of toes Macrodattilia/megalodattilia delle dita dei piedi große Zähne/Makrodontie hrdo:sgn_id_22420 Alargamento terminal/'clubbing' dos dedos dos pés Dedos de pie en palillos de tambor/con ensanchamiento distal Ippocratismo digitale/allargamento delle dita dei piedi Phalange distale des orteils élargie Terminal broadening/clubbing of toes vergrößerte/verbreiterte distale Zehenphalangen hrdo:sgn_id_22440 Ausencia/hipoplasia de los huesos de las falanges distales Distal phalangeal bones of toes hypoplasia/absence Hipoplasia/ausência das falanges distais dos dedos dos pés Hypoplasie/Aplasie der distalen Zehenendknochen Ipoplasia/assenza delle ossa delle falangi distali delle dita dei piedi Phalange distale des orteils hypoplasique/absente hrdo:sgn_id_22460 Clinodactilia de pies Clinodactilia dos dedos dos pés Clinodactylie des orteils Clinodactyly of toes Clinodattilia delle dita dei piedi Klinodaktylie der Zehen hrdo:sgn_id_22480 Anomalia dell'alluce (esclusa l'assenza) Anomalia do halux (excluindo ausência) Anomalie der Großzehe (exklusive Aplasie) Anomalie du gros orteil (autre qu'absence) Anomalía del dedo gordo del pie (excluyendo ausencia) Big toe anomaly (excluding absence) hrdo:sgn_id_22500 Alluce lungo/prensile Dedo gordo del pie largo y prensil Gros orteil long/préhensible Halux longo/preênsil Long/prehensile big toe lange Großzehe/Greifzeh hrdo:sgn_id_22520 Alluce corto Dedo gordo del pie corto Gros orteil court Halux curto Short big toe kurze Großzehe hrdo:sgn_id_22540 Alluce largo/bifido Broad/bifid big toe Dedo gordo del pie ancho/bífido Gros orteil large Halux largo/bífido breite/gespaltene Großzehe hrdo:sgn_id_22560 Metatarso addotto Metatarso aducto Metatarso aducto Metatarsus adductus Metatarsus adductus Sichelfuß hrdo:sgn_id_22580 Alluce dorsiflesso Dedo gordo delpie dorsiflexionado Dorsiflexed great toe Gros orteil en marteau Halux dorsifletido Hammerzehe (Großzehe) hrdo:sgn_id_22600 Alluce valgo Hallux valgus Hallux valgus Hallux valgus Hallux valgus/juanete Halux valgo hrdo:sgn_id_22620 Amplio espacio entre primer y segundo dedo del pie Aumento dello spazio tra il 1° e 2° dito del piede Espace entre 1er et 2ème orteil Espaçamento entre os 1º e 2º dedos do pé Sandalenlücke Wide space between 1st-2nd toes hrdo:sgn_id_22640 Abnormal sole/deep creases Anomalie de la plante du pied/plante capitonnée/plissée Anomalie der Fußsohle/Plantarfurchen Pianta del piede anomala/pieghe profonde Planta de pie anormal/pliegues profundos Pregas plantares anormais/profundas hrdo:sgn_id_2280 Plagiocefalia Plagiocefalia Plagiocefalia Plagiocephaly Plagiocéphalie Plagiozephalie hrdo:sgn_id_23000 Anomalias da pele, tecido subcutâneo e mucosa Anomalie della cute, del tessuto sottocutaneo e delle mucose Anomalien der Haut, des subkutanen Gewebes und der Schleimhäute Anomalies de la peau, du tissu sous-cutané et des muqueuses Anomalies of skin, subcutaneous tissue and mucosae Anomalías de la piel, del tejido subcutáneo y de las mucosas hrdo:sgn_id_23010 Hiperhidrose/transpiração aumentada Hiperhidrosis/aumento de la sudoración Hyperhidrose/hypersudation Hyperhidrose/vermehrtes Schwitzen Hyperhidrosis/increased sweating Iperidrosi/aumento della sudorazione hrdo:sgn_id_23020 Hipohidrose/sudorese diminuida/termorregulação anormal/intolerância ao calor Hipohidrosis/descenso sudoración/trast.de termorregulación/intolerancia al calor Hypohidrose/hyposudation/troubles de thermorégulation/intolérance à la chaleur Hypohidrose/vermind. Schwitzen/Hitzeintoleranz/Störungen der Thermoregulation Hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance Ipoidrosi/sudorazione diminuita/disturbo termoregolazione/intolleranza al calore hrdo:sgn_id_23030 Odeur corporelle anormale Odor corporal peculiar Odore insolito del corpo Olor corporal raro Unusual body odour auffälliger/ungewöhnlicher Körpergeruch hrdo:sgn_id_23040 Dermatite seborroica/iperseborrea/seborrea Seborrea/hiperseborrea/dermatitis seborreica Seborreia/hiperseborreia/dermatite seborreica Seborrhea/hyperseborrhea/seborrheic dermatitis Seborrhö/Hyperseborrhö/seborrhoische Dermatitis Séborrhée/hyperséborrhée hrdo:sgn_id_23050 Aplasie/Hypoplasie/Atrophie der Haut Atrofia/aplasia/hipoplasia de la piel Atrophie de la peau/atrophie/aplasie cutanée Hipoplasia/aplasia/atrofia da pele Ipoplasia/aplasia/atrofia della cute Skin hypoplasia/aplasia/atrophy hrdo:sgn_id_23060 Estrias Estrías Hautdehnungsstreifen/Striae Striae Strie Vergetures hrdo:sgn_id_23070 Engelures Erfrierungen Freezing lesions Lesiones por congelación Lesioni da congelamento Lesões do frio hrdo:sgn_id_23080 Cellulite/panniculite/pseudo-cellulite/infiammazione del tessuto sottocutaneo Cellulite/panniculite/pseudo-cellulite/inflammation du tissu adipeux Cellulitis/panniculitis/pseudocellulitis/inflammation of subcutaneous tissue Celulite/paniculite/pseudocelulite/infalmação do tecido subcutâneo Celulitis/paniculitis/pseudocelulitis/inflamación del tejido subcutáneo Zellulitis/Pannikulitis/Pseudozellulitis/Entzündung des subkutanen Gewebes hrdo:sgn_id_23090 Hiperqueratose/ainhum/fissuras hiperqueratóticas da pele Hiperqueratosis/ainhum/fisuras hiperqueratósicas de la piel Hyperkeratose Hyperkeratosis/ainhum/hyperkeratotic skin fissures Hyperkératose/aïnhum/fissure hyperkératosique/bande scléreuse Ipercheratosi/ainhum/fessure cutanee ipercheratosiche hrdo:sgn_id_23100 Hiperqueratose palmoplantar/queratoderma Hiperqueratosis palmoplantar/queratoderma Hyperkératose palmoplantaire Ipercheratosi palmoplantare/cheratodermia Palmoplantar hyperkeratosis/keratoderma palmoplantare Hyperkeratose/Keratoderm hrdo:sgn_id_23110 Palmoplantar pustulosis Pustolosi palmo-plantare Pustulose palmoplantaire Pustulose palmoplantar Pustulosis palmoplantar palmoplantare Pustulose hrdo:sgn_id_23120 Abnormal scarring/cheloids/hypertrophic scars Anomalie der Narbenbildung/Keloid/hypertrophische Cicatrisation anormale/hypertrophique/chéloïdes/fibrose cutanée Cicatrización anormal/queloides/cicatrices hipertróficas Cicatrização anormal/quelóide/cicatrizes hipertróficas Cicatrizzazione anomala/cheloidi/cicatrici ipertrofiche hrdo:sgn_id_23130 Hairy patch Hyperpilosité localisée Ipertricosi localizzata Mancha peluda Tufo piloso lokalisierte Hypertrichose hrdo:sgn_id_23140 Ispessimento cutaneo localizzato Mancha de Shagreen Peau de chagrin Placas de Shagreen Shagreen patch Shagreenhaut/faltige Haut hrdo:sgn_id_23150 Cute ruvida Peau ridée Pele ondulada Piel ondulada Rippled skin gewellte Haut hrdo:sgn_id_23160 Cavidad/hoyuelo/sinus dermoide (excluyendo sacro) Dermoid sinus/dimple/pit (excluding sacral) Dermoidzyste/Hautsinus/Hautgrübchen (exkl.Rückenmarkshaut) Fossetta/seno dermoide (esclusa la fossetta sacrale) Fossettes cutanées/sinus dermoïde (sauf sacrum) Seio/fosseta dermóide (excluindo sagrada) hrdo:sgn_id_23170 Cute secca/ desquamazione Dry/squaly skin/exfoliation Peau sèche/desquamation/exfoliation/squame Pele seca/escamosa/exfoliação Piel seca/escamosa/exfoliación trockene Haut/schuppige Haut hrdo:sgn_id_23180 Ichthyose/ichthyosiforme Dermatitis Ichthyosis/ichthyosiform dermatitis Ichtyose/dermatose ichtyosiforme Ictiose/dermatite ictiosiforme Ictiosis/dermatitis ictiosiforme Ittiosi/dermatite ittiosiforme hrdo:sgn_id_23190 Cancrum/úlceras/ulceraciones/infecciones crónicas de piel Chronic skin infection/ulcerations/ulcers/cancrum Infection cutanée chronique/ulcérations/ulcères cutanés/chancre Infeção crónica da pele/ulcerações/úlceras/cancrum Ulcerazioni/ulcere/infezione cronica/tumore della pelle chronische Infektion der Haut/Ulzeration/ hrdo:sgn_id_2320 Brachicefalia/occipite piatto Brachycephaly/flat occiput Brachycéphalie/occiput plat Brachyzephalie/flacher Hinterkopf Braquicefalia/occipital achatado Braquiocefalia/occipucio plano hrdo:sgn_id_23200 Cute marmorata/pelle di marmo/livedo Cutis marmorata/marbled skin/livedo Cutis marmorata/peau marbrée/livedo Cutis marmorata/pele marmórea/livedo Cutis marmorata/piel de mármol/livedo marmorierte Haut hrdo:sgn_id_23210 Fotosensibilità della pelle Fotossensibilidade cutânea Photosensibilité cutanée Photosensitivität der Haut Piel fotosensible Skin photosensitivity hrdo:sgn_id_23220 Cutaneous rash Eruption cutanée/rash Eruzione cutanea Exantema cutâneo Hautausschlag Sarpullido cutáneo hrdo:sgn_id_23230 Eccema Eczema Eczema Eczema Eczéma Ekzem hrdo:sgn_id_23240 Orticaria Urticaire Urticaria Urticaria Urticária Urtikaria/Erythem/Ausschlag hrdo:sgn_id_23250 Psoriasi Psoriasis Psoriasis Psoriasis Psoriasis Psoríase hrdo:sgn_id_23260 Eritema/lesiones eritomatosas/eritroderma/eritema polimorfo Eritema/lesioni eritematose/eritrodermia/eritema polimorfo Eritema/lesões eritematosas/eritrodermia/eritema polimórfico Erythem/erythematöse Läsionen/Erythrodermie/polymorphes Erythem Erythema/erythematous lesions/erythroderma/polymorphous erythema Erythèmes/lésions érythémateuses/érythrodermie/érythème polymorphe hrdo:sgn_id_23270 Erisipela Erisipela Erisipela Erysipel Erysipela Erysipèle/érésipèle hrdo:sgn_id_23280 Lichen Lichen Lichen Lichen Liquen plano Líquen hrdo:sgn_id_23290 Flecken Macule Macules Macules Máculas Máculas hrdo:sgn_id_23300 Follicular/erythematous/edematous papules/milium Milio/papule follicolari/eritematose/edematose Papules folliculaires/érythémateuses/oedémateuses/plaques/grain de milium Pápulas foliculares/eritmatosas/edematosas / mília Pápulas/milium edematosas/eritematosas/foliculares follikuläre/erythematöse/ödematöse Papeln/Milien hrdo:sgn_id_23310 Lesiones exudativas/bullosas/vesiculares/desprendimiento mucoso/cutáneo/bulloso Vescicole/lesioni bollose/essudative/distacco di mucosa/cute/bolle Vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment Vesikel/bullöse/exsudative Läsionen/kutane/mukosale Epithelablösung Vesículas/les?es bulhosas/exsudativas/bolhas/destacamento cutáneo/da mucosa Vésicules/lésions bulleuses/suintement/érosions/décollement cutané et muqueux hrdo:sgn_id_23320 Positive Nikolski's sign/achantolysis Segno di Nikolski positivo/acantolisi Signe de Nikolski positif/acantholyse Signo de Nikolsky positivo/acantolisis Sinal de Nikolski positivo/acantólise positives Nikolski-Zeichen hrdo:sgn_id_23330 Negative Nikolski's sign Segno di Nikolski negativo Signe de Nikolski négatif Signo de Nikolsky negativo Sinal de Nikolski negativo negatives Nikolski-Zeichen hrdo:sgn_id_23340 Pusteln/Pustulose Pustole/pustolosi Pustula/pustulosis Pustules/pustulose Pústula/pustulose Pústula/pustulosis hrdo:sgn_id_23350 Foruncolosi/ascesso cutaneo/idrosadenite suppurativa Forúnculo/absceso cutáneo/hidrosadenitis supurativa Furoncles/lésions furonculoïdes/abcès cutanés/hidrosadénites suppurées Furuncle/cutaneous abscess/hidrosadenitis suppurativa Furunkel/kutaner Abzess/Hidradenitis suppurativa Furúnculo/abcesso cutâneo/hidradenite supurativa hrdo:sgn_id_23360 Atrofoderma folicular/vermiculata Atrofodermia vermiculata/folicular Atrofodermia vermiculata/follicolare Atrophodermia vermiculata/follikuläre Atrophodermie Atrophodermie folliculaire/atrophodermie vermiculée Follicular/vermiculata atrophoderma hrdo:sgn_id_23370 Enantema/aftosa/afta/leucopatia Enantema/aftosa/afta/leucoplaquia Enantema/aftosi/afta/leucoplachia Enanthem/Stomatitis aphtosa/Leukoplakie Enanthema/aphtosa/aphta/leukoplakia Enanthème/aphtose/aphtes/leucoplasie hrdo:sgn_id_23380 Prurido/comichão Prurit/démangeaisons Prurito/picazón Prurito/prurigine Pruritus/Juckreiz Pruritus/itching hrdo:sgn_id_23390 Cute sottile Peau fine Pele fina Piel fina Thin skin dünne Haut hrdo:sgn_id_23400 Cute spessa/pachidermia/cute arancione Peau épaisse/pachydermie/aspect peau d'orange Pele grossa/paquidermia/pele em casca de laranja Piel gruesa/paquidermia/piel de naranja Thick skin/pachydermia/orange skin verdickte Haut/Pachydermie/Orangenhaut hrdo:sgn_id_23410 Acne Acne/acnea Acne/acnea Acné Acné Akne hrdo:sgn_id_23420 Cutaneous edema Edema cutaneo Edema cutáneo Edema cutâneo kutanes Ödem Œdème cutané hrdo:sgn_id_23430 Anetodermia/atrofia dermica Anetodermia/atrofia dérmica Anetodermia/atrofia dérmica Anetodermia/dermal atrophy Anetodermie/Hautatrophie Anétodermie/disparition du tissu dermique hrdo:sgn_id_23440 Lipatrophie Lipoatrofia Lipoatrofia Lipoatrofia Lipoatrophie Lipoatrophy hrdo:sgn_id_23450 Cute tesa/perdita di elasticità Peau tendue/perte d'élasticité Pele tensa/perda de elasticidade Tight skin/lack of elasticity feste Haut/Elastizitätsverlust piel tensa/falta de elasticidad hrdo:sgn_id_23460 Cute iperelastica/iperlassità cutanea Hyperelastic skin/cutaneous hyperlaxity Hyperélasticité de la peau/peau élastique/hyperlaxité cutanée Pele hiperelástica/hiperlaxidez cutânea Piel hiperelástica/hiperlaxitud cutánea überelastische Haut/vermehrte Dehnbarkeit hrdo:sgn_id_23470 Cute lassa/rilassamento cutaneo/cute in eccesso/pieghe Cutis laxa/übermäßige Faltenbildung Loose skin/skin relaxation/excess skin/creases Peau lâche/excès de peau (sauf cou)/relâchement cutané/plis de peau Pele solta/laxidez da pele/excesso de pele/pregas cutâneas Piel suelta/relajación de piel/exceso de piel/arrugas hrdo:sgn_id_23480 Dermal/subcutaneous infiltration/induration Infiltración/induración subcutánea/dérmica Infiltrats dermiques/sous-cutanés/induration cutanée Infiltrazione/indurimento del derma/sottocutaneo Infiltração/endurecimento dérmico/subcutâneo dermale/subkutane Infiltration/Verhärtung hrdo:sgn_id_23490 Cutaneous inflammation Hautentzündung Infiammazione cutanea Inflamación cutánea Inflamação cutânea Inflammation cutanée hrdo:sgn_id_23500 Abnormal pigmentary skin changes/skin pigmentation anomalies Anomalias da pigmentação da pele Anomalie de pigmentation de la peau Cambiamenti anomali/anomalie della pigmentazione cutanea Cambios pigmentarios de piel anormales/anomalías en la pigmentación de la piel Pigmentanomalien der Haut hrdo:sgn_id_23510 Diffuse/generalised skin hypopigmentation/cutaneous albinism Hipopigmentación de la piel generalizada/difusa/albinismo cutáneo Hipopigmentação cutânea difusa/generalizada / albinismo cutâneo Hypopigmentation diffuse/généralisée/albinisme cutané Ipopigmentazione cutanea generalizzata/diffusa/albinismo cutaneo diffuse/generalisierte Hypopigmentierung der Haut/kutaner Albinismus hrdo:sgn_id_23520 Hipopigmentación de la piel irregular/en parches Hipopigmentação cutânea irregular Hypopigmentation irrégulière/dépigmentation par taches/vitiligo Ipopigmentazione cutanea a chiazze/irregolare Irregular/patchy skin hypopigmentation ungleichmäßige/fleckige Hypopigmentierung der Haut hrdo:sgn_id_23530 Diffuse/generalised skin hyperpigmentation/melanoderma Hiperpigmentación de la piel difusa/generalizada/melanoderma Hiperpigmentação cutânea difusa/generalizada / melanodermia Hyperpigmentation diffuse/généralisée/mélanodermie Melanoderma/iperpigmentazione cutanea generalizzata/diffusa diffuse/generalisierte Hyperpigmentierung der Haut/Melanoderm hrdo:sgn_id_23540 Hiperpigmentación de la piel reticular/en bandas/irregular Hiperpigmentação cutânea reticular/irregular/em bandas Hyperpigmentation irrégulière/bandes/réseaux/inégale en intensité Iperpigmentazione cutanea reticolare/a bande/irregolare Irregular/in bands/reticular skin hyperpigmentation ungleichmäßige/streifige/retikuläre Hyperpigmentierung der Haut hrdo:sgn_id_23550 Nei pigmentati/neo pigmentoso/lentigo Nevo pigmentado/nevo pigmentoso/lentigo Nevo pigmentado/nevus pigmentoso/lentigo Nævi pigmentés/bleus/nævus lentigineux/lentigines Pigmented naevi/naevus pigmentosus/lentigo Pigmentnaevie/Lentigo hrdo:sgn_id_23560 Acanthosis nigricans Acanthosis nigricans Acanthosis nigricans Acantose nigricans Acantosis nigricans Acantosis nigricans hrdo:sgn_id_23570 Cafe-au-lait spot Macchie caffè latte Mancha café con leche Manchas café com leite Milchkaffee-Flecken Taches café au lait hrdo:sgn_id_23580 Macchia mongoloide Mancha mongolóide Mancha mongólica Mongolenfleck Mongoloid spot Taches mongoloïdes hrdo:sgn_id_23590 Efelidi diffuse Ephélides en excès/taches de rousseur Exceso de pecas Excessive freckling Excesso de efélides vermehrte Sommersprossen hrdo:sgn_id_2360 Cloverleaf skull Cranio a trifoglio Cráneo en trébol Crâne en trèfle Crânio em folha de trevo Kleeblattschädel hrdo:sgn_id_23600 Anomalias vasculares da pele/mucosa Anomalie vascolari della cute/delle mucose Anomalies vasculaires de la peau et des muqueuses Anomalías vasculares de la piel/mucosas Vascular anomalies of skin/mucosae vaskuläre Anomalien der Haut/Mukosa hrdo:sgn_id_23610 Porpora/petecchie Purpura/Petechien Purpura/petichiae Purpura/petéquias Purpura/pétéchies Púrpura/petequia hrdo:sgn_id_23620 Ecchimosi Ecchymoses Ecchymoses Ekchymose Equimoses Equimosis hrdo:sgn_id_23630 Telangiectasia da pele Telangiectasia de la piel Telangiectasiae of the skin Teleangiectasie della pelle Teleangiektasien der Haut Télangiectasies de la peau hrdo:sgn_id_23640 Telangiectasia da mucosa Telangiectasia de mucosas Telangiectasiae of mucosae Teleangiectasie delle mucose Teleangiektasien der Schleimhaut Télangiectasies des muqueuses hrdo:sgn_id_23650 'Hemangioma capilar/nevo/nevo flammeus/mancha ''vinho do porto''' Capillary hemangioma/nevus/naevus flammeus/port-wine stain Emangioma capillare/nevo/nevo flammeo/macchie color vino Porto Hemangioma capilar/nevus/nevus flammeus/mancha en vino de Oporto Hémangiomes capillaires/naevus flammeus/angiome plan/taches lie de vin kapilläres Hämangiom/Nävus/Naevus flammeus/Portweinfleck hrdo:sgn_id_23660 Cavernous/tuberous hemangioma Emangioma cavernoso/tuberoso Hemangioma cavernoso/tuberoso Hemangioma cavernoso/tuberoso Hémangiomes tubéreux/caverneux kavernöses/tuberöses Hämangion hrdo:sgn_id_23670 Eritema telangiectásico/poiquilodermia Eritema telangiectásico/poiquilodermia Eritema teleangectasico/poichiloderma Erythème télangiectasique/poïkilodermie Telangiectasic erythema/poikiloderma teleangiektatisches Erythem/Poikilodermie hrdo:sgn_id_23680 Skin tumors/lumps/epidermal cysts Tumeurs cutanées/bourgeons/kystes épidermiques Tumore/Knötchen/Zysten der Haut Tumores da pele/nódulos/quistos epidérmicos Tumores/bultos de piel/quistes epidérmicos Tumori cutanei/noduli/cisti epidermiche hrdo:sgn_id_23690 Verruche/papillomi Verrues/papillomes Verrugas/papilomas Verrugas/papilomas Warts/papillomas Warzen/Papillome hrdo:sgn_id_23700 Xanthomas/lipomas Xanthome/Lipome Xanthomes/lipomes Xantomas/lipomas Xantomas/lipomas Xantomi/lipomi hrdo:sgn_id_23710 Cutaneous neurofibromas/facial angiofibromas/Koenen tumors Neurofibroma cutáneo/angiofibroma facial/tumores de Koenen Neurofibromas cutâneos/angiofibromas faciais/tumores de Koenen Neurofibromes cutanés/angiofibromes faciaux/tumeurs de Koenen Neurofibromi cutanei/angiofibromi facciali/tumori di Koenen kutane Neurofibrome/faziale Angiofibrome/Koenen-Tumore hrdo:sgn_id_23720 Adenoma sebaceo Adenoma sebaceum Adenoma sebaceum Adenoma sebáceo Adenoma sebáceo Adénomes sébacés hrdo:sgn_id_23730 Nodules/lipomes sous-cutanés/tuméfactions sous-cutanées Noduli sottocutanei/lipomi/tumefazione/enfiagione Nódulos subcutáneos/lipomas/tumefacción Nódulos subcutâneos/lipomas/tumefação Subcutaneous nodules/lipomas/tumefaction/swelling subkutane Knötchen/Lipome/Schwellung hrdo:sgn_id_23740 Defekte der Hautanhangsgebilde Lesiones pedunculadas de piel Lesioni cutanee pedunculate Lesões cutâneas pedunculadas Lésions cutanées pédonculées Pedunculated skin lesions hrdo:sgn_id_23750 Amartomi follicolari/congiuntivali Follicular/conjunctival hamartomas Hamartomas foliculares/conjuntivais Hamartomas foliculares/conjuntival Hamartomes folliculaires/hamartomes conjonctifs follikuläres/konjunktivales Harmatom hrdo:sgn_id_2400 Occipital proeminente/bossa occipital Occipite prominente/rigonfiamento occipitale Occipucio prominente/prominencia del hueso occipital Occiput proéminent/bosses occipitales Prominent occiput/occipital bossing prominenter Hinterkopf/okzipitale Ausbuchtung hrdo:sgn_id_24000 Anomalias do cabelo e couro cabeludo Anomalias en el pelo y cuero cabelludo Anomalie dei capelli e del cuoio capelluto Anomalies des cheveux/poils/cuir chevelu Haar- und Kopfhautanomalien Hair and scalp anomalies hrdo:sgn_id_24040 Hirsutism/hypertrichosis/Increased body hair Hirsutisme/hypertrichose Hirsutismo/hipertricose/excesso de pelo corporal Hirsutismo/hipertricosis/incremento de vello androgénico Hirsutismus/Hypertrichose/vermehrte Körperbehaarung Irsutismo/ipertricosi/aumento dei peli corporei hrdo:sgn_id_24080 Hipotricose/atriquia/atriquiase/alopécia do couro cabeludo Hipotricosis/atriquia/escasez de pelo en cuero cabelludo Hypotrichose/Atrichie/haarlose Kopfhaut Hypotrichosis/atrichia/atrichiasis/scalp hairlessness Hypotrichosis/atrichia/atrichiasis/scalp hairlessness Ipotricosi/atrichia/atrichiasi/cuoio capelluto privo di capelli hrdo:sgn_id_24120 Decreased body hair/axillar/pubic hairlessness Diminuzione dei peli corporei/assenza peli pubici/ascellari Peau glabre/absence de poils/chute des poils axillaires et pubiens Pelo corporal/axilar/púbico diminuido Vello androgénico reducido/escasez de vello axilar/púbico verminderte Körperbehaarung/fehlende Schambehaarung hrdo:sgn_id_24160 Alopecia Alopecia Alopecia Alopecia Alopezie Alopécie hrdo:sgn_id_24200 Lanugine Lanugo Lanugo Lanugo Lanugo Lanugo/Wollhaar hrdo:sgn_id_24240 Blanchissement/grisonnement prématuré des cheveux/cheveux argentés/canitie Canicie prematura Embranquecimento prematuro do cabelo Incanutimento precoce dei capelli Premature greying of hair vorzeitiges Ergrauen der Haare hrdo:sgn_id_24280 Cheveux clairs/hypopigmentés Decreased hair pigmentation/hypopigmentation of hair Descenso de la pigmentación del pelol/hipopigmentación del pelo Ipopigmentazione dei capelli/diminuzione della pigmentazione dei capeli Pigmentação do cabelo diminuida/hipopigmentação do cabelo helle/hypopigmentierte Haare hrdo:sgn_id_24320 Albinism (hair) Albinismo (cabelo) Albinismo (capelli) Albinismo (pelo) Cheveux dépigmentés/albinisme depigmentierte Haare/Albinismus hrdo:sgn_id_24360 Frezza bianca/piebaldismo Madeixa de cabelo branco / piebaldismo Mechón blanco sobre la frente/albinismo parcial Mèche blanche/piébaldisme White forelock/piebaldism weiße Stirnlocke/Piebaldismus hrdo:sgn_id_2440 Fontanela grande/atraso no encerramento das fontanelas Fontanelas grandes/retraso del cierre de las fontanelas Fontanelle large/retard de fermeture Fontanelle larghe/ritardo di chiusura delle fontanelle Große Fontanelle/verzögerter Fontanellenschluss Large fontanelle/delayed fontanelle closure hrdo:sgn_id_24400 Capigliatura abbondante Chevelure abondante Dense scalp hair Densidade capilar aumentada Pelo denso en cuero cabelludo dichtes Kopfhaar hrdo:sgn_id_24440 Crecimiento lento del pelo Crescimento lento do cabelo Crescita lenta dei capelli Croissance lente des cheveux/cheveux courts langsames Haarwachstum slow growth of the hair hrdo:sgn_id_24480 Abnormal fall of hair Caduta anomala dei capelli Caida de cabello anormal Chute de cheveux anormale Queda anormal de cabelo vermehrter Haarausfall/Haarverlust hrdo:sgn_id_24520 Abnormal hair texture/hair dysplasia Anomalie der Haarstruktur/Haardysplasie Capelli a struttura anomala/displasia dei capelli Structure ou texture anormale des cheveux/dysplasie pilaire Textura anormal do cabelo/displasia do cabelo Textura de cabello anormal/displasia de cabello hrdo:sgn_id_24560 Cabello fino Cabelo fino Capelli sottili Cheveux fins Fine hair dünne/feine Haare hrdo:sgn_id_24600 Cabello grueso Cabelo grosso/grosseiro Capelli spessi/grossolani Cheveux épais/grossiers Coarse/thick hair kräftige/feste Haare hrdo:sgn_id_24640 Cabello lanoso/encrespado Cabelo frisado Capelli lanosi/crespi Cheveux laineux/crépus/incoiffables Woolly/frizzy hair krause/unkämmbare Haare hrdo:sgn_id_24680 Brittle hair/distrix/trichorrhexis Cabello quebradizo/tricorresis Cabelo quebradiço/distrix/tricorrexis Capelli fragili/doppie punte/tricorressi Cheveux cassants/trichoclasie/trichoptilose/trichorrhexie brüchige Haare/Trichorrhexis hrdo:sgn_id_24720 Pili torti Pili torti Pili torti Pili torti Pili torti Pili torti hrdo:sgn_id_24760 Abnormal implantation of hair Impianto anomalo dei capelli Implantación anormal del pelo Implantation anormale des cheveux Implantação anormal do cabelo anomaler Verlauf der Haarlinie/Haaransatz hrdo:sgn_id_2480 Cranio/volta cranica scarsamente ossificato/a Deficiencia en la osificación del cráneo/bóveda craneal Défaut d'ossification du crâne Ossificação deficiente do crânio/calote craniana Ossifikationsstörung des Schädels/Schädeldaches Poorly ossified skull/calvarium hrdo:sgn_id_24800 Attaccatura bassa dei capelli (nuca) Cheveux bas implantés sur la nuque Implantação baixa do cabelo (nuca) Low hair line (back) Línea posterior del pelo baja tiefer Nackenhaaransatz hrdo:sgn_id_24840 Cheveux implantés haut sur le front/en pic de veuve High hair line (front)/widow peak Impianto arretrato/a ``V'' dei capelli sulla fronte Implantação alta do cabelo (frontal) / bico de viúva Línea frontal del pelo alta/pico de la viuda hoher Haaransatz (Stirn)/spitzer Haaransatz hrdo:sgn_id_24880 Cuir chevelu hypersensible Hipersensibilidad del cuero cabelludo Hipersensibilidade do couro cabeludo Hypersensibility of scalp/scalp tenderness Hypersensibilität der Kopfhaut/überempfindlicher Haarboden Ipersensibilità dei cuoio capelluto/tenerezza del cuoio capelluto hrdo:sgn_id_24920 Kopfhautzyste/Riesennävus Kyste du cuir chevelu/naevus géant du cuir chevelu Nevo gigante/cisti del cuoio capelluto Quiste del cuero cabelludo/nevus gigante Quisto do couro cabeludo/nevus gigante Scalp cyst/giant nevus hrdo:sgn_id_24960 Couro cabeludo grosso/displasia do couro cabeludo Cuoio capelluto spesso/displasia del cuoio capelluto Grueso cuero cabelludo/displasia de cuero cabelludo Hypertrophie/épaississement de la peau du cuir chevelu/dysplasie du cuir chevelu Thick scalp/scalp dysplasia verdickte Kopfhaut/Dysplasie der Kopfhaut hrdo:sgn_id_25000 Anomalias das unhas Anomalie delle unghie Anomalies des ongles Anomalías de las uñas Nagelanomalien Nails anomalies hrdo:sgn_id_25050 Abnormal fingernails Anomalie der Fingernägel Anomalies des ongles des mains Unghie delle mani anomale Unhas das mãos anormais Uñas de las manos anormales hrdo:sgn_id_25100 Absent/small fingernails/anonychia of hands Ongles absents/petits /anonychie (mains) Unghie della mani piccole/assenti/anonichia delle mani Unhas das mãos ausentes/pequenas / anoníquia das mãos Uñas pequeñas/ausentes/anoniquia de manos kleine/fehlende Fingernägel/Anonychie der Hände hrdo:sgn_id_25150 Ongles fins/hypoplasiques (mains) Thin/hypoplastic/hyperconvex fingernails Unghie delle mani iperconvesse/ipoplasiche/sottili Unhas das mãos finas/hipoplásicas/hiperconvexas Uñas de las manos hiperconvexas/hipoplásicas/delgadas dünne/hypoplastische/hyperkonvexe Fingernägel hrdo:sgn_id_2520 Cranio/volta cranica ispessito/a/iperostosi facciale/cranica Crânio/calote densa/espessada / hiperostose craniana/facial Dense/thickened skull/calvarium/cranial/facial hyperostosis Hiperostosis craneal/facial/cráneo/bóveda craneal densa/engrosada Verdickung des Schädelknochens/Schädeldaches/kraniale/faziale Hyperostose Voûte crânienne épaissie/hyperostose du crâne et de la face hrdo:sgn_id_25200 Dysplastic/thick/grooved fingernails Ongles dysplasiques/épais /dystrophie unguéale (mains) Unghie delle mani displasiche/spesse/incavate Unhas das mãos displásicas/grossas/sulcadas Uñas de las manos estriadas/displásicas/gruesas dysplastische/verdickte Fingernägel hrdo:sgn_id_25250 Fibromas ungueais/paraungueais (unhas das mãos) Fibromas ungueales/periungueales (uñas de las manos) Fibromes sous unguéaux /périunguéaux (mains) Fibromi periungueali/ungueali (unghie delle mani) Ungual/paraungual fibromas (fingernails) periunguale/ungulae Fibrome der Finger hrdo:sgn_id_25300 Abnormal toenails Anomalie der Zehennägel Anomalies des ongles des pieds Unghie dei piedi anomale Unhas dos pés anormais Uñas del pie anormales hrdo:sgn_id_25350 Absent/small toenails/anonychia of feet Ongles absents/petits/anonychie (pieds) Unghie dei piedi assenti/piccole/anonichia dei piedi Unhas dos pés ausentes/pequenas/anoníquia dos pés Uñas del pie pequeñas/ausentes/anoniquia de pies kleine/fehlende Zehennägel/Anonychie der Füße hrdo:sgn_id_25400 Ongles fins/hypoplasiques (pieds) Thin/hypoplastic toenails Unghie dei piedi sottili/ipoplasiche Unhas dos pés finas/hipoplásicas Uñas del pie hipoplásicas/delgadas dünne/hypoplastische Zehennägel hrdo:sgn_id_25450 Dysplastic/thick/grooved toenails Ongles dysplasiques/épais/dystrophie unguéale (pieds) Unghie dei piedi displasiche/spesse/incavate Unhas dos pés displásicas/grossas/sulcadas Uñas del pie displásicas dysplastische/verdickte Zehennägel hrdo:sgn_id_25500 Fibromas ungueais/pearaungueais (unhas dos pés) Fibromas ungueales/periungueales (uñas de los pies) Fibromes sous unguéaux /périunguéaux (pieds) Fibromi periungueali/ungueali (unghie dei piedi) Ungual/parungual fibromas (toenails) periunguale/ungulae Fibrome der Zehen hrdo:sgn_id_25550 Onissi/perionissi/infiammazione delle unghie Onixia/paronixia/inflamação ungueal Onixis/perionixis/inflamación ungueal Onychie/Paronychie/Nagelentzündung Onyxis/inflammation des ongles/périonyxis Onyxis/paronyxis/ungual inflammation hrdo:sgn_id_2560 Prominent metopic suture Sutura metopica prominente Sutura metópica proeminente Sutura metópica prominente Suture métopique proéminente prominente Sutura mendosa hrdo:sgn_id_25600 Abnormal nails colour/leukonychia/melanonychia Anomale Farbe der Nägel/Leukonychie/Melanonychie Color anormal de uñas/leuconiquia/melanoniquia Coloration des ongles anormale/leuconychie/mélanonychie Coloração anormal das unhas/leuconíquia/melanoníquia Colore anomalo delle unghie/leuconichia/melanonichia hrdo:sgn_id_25650 Onicolisi Onicolisis Onicólise Onycholyse Onycholyse Onycholysis hrdo:sgn_id_25700 Nageltumor Nail tumors Tumeurs des ongles/tumeur glomique péri-unguéale Tumores das unhas Tumores ungueales Tumori delle unghie hrdo:sgn_id_25750 Ongles ponctués/ongles en dés à coudre Punctate nails Unghie puntate Unhas pontuadas Uñas punteadas gesprenkelte Nägel hrdo:sgn_id_2600 Anomalia do couro cabeludo/crânio Defecto del cuero cabelludo/cráneo Difetti del cranio/cuoio capelluto Hypoplasie du vertex/lacune crânienne Kopfhaut/Schädeldefekt Scalp/skull defect hrdo:sgn_id_26000 Anomalias estruturais do tracto digestivo Anomalie strutturali del tratto digestivo Anomalies de structure du tube digestif Anomalías estructurales del tubo digestivo Structural anomalies of the digestive tract Strukturanomalie des Verdauungstraktes hrdo:sgn_id_26020 Anomalia dell'intersezione respiratoria-digestiva/degli incroci aero-digestivi Anomalie du carrefour aéro-digestif Anomalien der respiratorisch-digestiven Intersektion/aero-digestiven Verbindung Encrucijada respiratorio-digestiva/aerodigestiva Intersecção respiratória-digestiva / anomalia das vias aero-digestivas Respiratory-digestive intersection/aero-digestive cross-roads anomaly hrdo:sgn_id_26040 Anomalia da faringe/anomalia faríngea Anomalia della faringe/anomalia faringea Anomalie des Pharynx/Rachens Anomalie du pharynx Anomaly of the pharynx/pharyngeal anomaly Anomalía de la faringe/anomalía faringea hrdo:sgn_id_26060 Faringite Faringite Faringitis Pharyngite Pharyngitis Pharyngitis hrdo:sgn_id_26080 Anomalia/hipertrofia das amígdalas / adenoidite Anomalia/ipertrofia delle tonsille/adenoidite Anomalie/Hypertrophie der Tonsillen/Adenoiditis Anomalies/hypertrophie des amigdales/végétations/adénoïdite Anomalía/hipertrofia de la amígdala/adenoiditis Tonsil anomaly/hypertrophy/adenoiditis hrdo:sgn_id_26100 Anomalia/ectopia/hipoplasia/atresia das glândulas salivares/ducto salivar Anomalia/ectopia/ipoplasia/atresia delle ghiandole salivari/del dotto salivare Anomalie des glandes salivaires/ectopie/hypoplasie/atrésie du canal salivaire Anomalie/Ektopie/Hypoplasie/Atresie der Speicheldrüsen/des Speicherganges Anomaly/ectopia/hypoplasia/atresia of salivary glands/salivary duct Anomalía/ectopia/hipoplasia/atresia de las gándulas salivales/conducto salival hrdo:sgn_id_26120 Anomalia esofagea Anomalia esofágica Anomalie de l'œsophage Anomalie des Ösophagus/Speiseröhre Anomalía esofágica Esophageal anomaly hrdo:sgn_id_26140 Fistola tracheo-esofagea/atresia/stenosi esofagea Fistule trachéo-œsophagienne/atrésie/sténose/rétrécissement de l'œsophage Fístula traqueo-esofágica/atresia esofágica/estenose Fístula traqueoesofágica/atresia/estenosis esofágica Tracheo-esophageal fistula/esophageal atresia/stenosis Ösophagusatresie/-stenose/ösophago-tracheale Fistel hrdo:sgn_id_26160 Esophageal webs Membrane esofagee Red esofágica Teias esofágicas Webs/membranes oesophagiennes Ösophagusmembran/-netz hrdo:sgn_id_26180 Endobrachiesofago/esofago di Barrett Endobrachyesophagus/Barrett esophagus Endobrachyœsophage/œsophage de Barrett Endobrachyösophagus/Barrett-Ösophagus Endobraquiesófago/esófago de Barrett Endobraquiesófago/esófago de Barrett hrdo:sgn_id_26200 Megaesofago/cardiospasmo/dilatazione congenita dell'esofago/acalasia Megaesophagus/cardiospasm/congenital dilation of the esophagus/achalasia Megaesófago/cardioespasmo/dilatación congénita del esófago/acalasia Megaesófago/cardioespasmo/dilatação congénita do esófago/acalásia Megaösophagus/Kardiospasmus/kongenitale Erweiterung der Speiseröhre/Achalasie Mégaœsophage/cardiospasme /dilatation congénitale de l'œsophage/achalasie hrdo:sgn_id_26220 Diverticoli esofagei/sacche esofagee Diverticule de l'œsophage/poche oesophagienne Divertículo esofágico / bolsa esofágica Divertículo esofágico/bolsa esofágica Esophageal diverticulum/pouch ösophageales Divertikulum hrdo:sgn_id_26240 Duplicación esofágica Duplication de l'œsophage Duplicazione dell'esofago Duplicação esofágica Esophageal duplication ösophageales Duplikation/doppelte Speiseröhre hrdo:sgn_id_26260 Anomalia gastrica/dello stomaco Anomalia gástrica/do estômago Anomalie de l'estomac Anomalía gástrica/de estómago Magneanomalie Stomach/gastric anomaly hrdo:sgn_id_26280 Megagastria Megalogastria Megalogastria Megalogastria Megalogastrie Mégalogastrie hrdo:sgn_id_26300 Microgastria Microgastria Microgastria Microgastria Microgastrie Mikrogastrie hrdo:sgn_id_26320 Estenose gástrica/pilórica Estenosis gástrica/pilórica Gastric/pyloric stenosis Magen-/Pylorusstenose Stenosi pilorica/gastrica Sténose gastrique/sténose du pylore hrdo:sgn_id_26340 Duplicación gástrica Duplicazione gastrica Duplicação gástrica Dédoublement de l'estomac Gastric duplication doppelter Magen/Magenduplikation hrdo:sgn_id_26360 Ectopia/malposizione gastrica Ectopia/má posição gástrica Ectopie congénitale de l'estomac/malposition Gastric ectopia/malposition Magenektopie/Fehllage des Magens Malposición/ectopía gástrica hrdo:sgn_id_26380 Diverticoli gastrici Diverticule gastrique Divertículo gástrico Divertículo gástrico Gastric diverticulum Magendivertikel hrdo:sgn_id_2640 Bossas frontais/fronte proeminente Bozze frontali/fronte prominente Front bombé/bosses frontales Frontal bossing/prominent forehead Prominencia frontal/frente prominente vorgewölbte Stirn/frontale Ausbuchtung hrdo:sgn_id_26400 Congenital wallet stomach/pseudo hour-glass stomach Estomac en sablier congénital Estomago em bolsa congénito / estômago em pseudo vidro de relógio Estómago en reloj de arena Stomaco a borsa di cuoio congenito/stomaco a clessidra kongenitaler Beutelmagen/vorgetäuschter Sanduhrmagen hrdo:sgn_id_26420 Gastric volvulus Magenvolvulus Volvolo gastrico Volvulus gastrique Vólvulo gástrico Vólvulo gástrico hrdo:sgn_id_26440 Anomalia intestinal/cólon Anomalia intestinale/del colon Anomalie de l'intestin grêle/du côlon Anomalía intestinal/del colon Darm-/Kolonanomalie Intestinal/colonic anomaly hrdo:sgn_id_26460 Atresia/estenose/ausência/agenesia/hipoplasia intestinal (excluindo duodeno) Atresia/stenosi/assenza/agenesia/ipoplasia intestinale (escluso il duodeno) Atrésie/sténose/absence/agénésie/hypoplasie de l'intestin (hors duodénum) Darmatresie/-stenose/hypoplasie/ fehlender Darm (exkl. Duodenum) Hipoplasia/agenesia/ausencia/estenosis/atresia intestinal (excluyendo duodeno) Intestinal atresia/stenosis/absence/agenesis/hypoplasia (excludes duodenum) hrdo:sgn_id_26480 Anomalie du duodénum/atrésie du duodénum/sténose duodénale/mégaduodénum Anomalie/Atresie/Stenose des Duodenums Atresia/estenose do duodeno / megaduodeno Atresia/stenosi duodenale/megaduodeno Duodenal atresia/stenosis/megaduodenum Estenosis/atresia duodenal/megaduodeno hrdo:sgn_id_26500 Anomalia del mesentere/Adesione comune del mesentere/mesenterica Anomalia do mesentério/mesentério comum / aderência mesentérica Anomalie des Mesenteriums/Adhäsion des Mesenteriums Anomalía mesentérica/adhesión mesentérica/de mesenterio común Mesenterium anomaly/common mesentery/mesenteric adhesion Mésentère anormal/ mésentère commun/ bride mésentérique hrdo:sgn_id_26520 Atresia/estenose/ausência/agenesia/hipoplasia cólon / microcólon Atresia/stenosi/assenza/agenesia/ipoplasia del colon/microcolon Atrésie/sténose/absence/agénésie/hypoplasie du côlon/ microcôlon Colonic atresia/stenosis/absence/agenesis/hypoplasia/microcolon Hipoplasia/agenesia/ausencia/estenosis/atresia del colon/microcolon Kolonatresie/-stenose/-hypoplasie/-agenesie/Mikrokolon hrdo:sgn_id_26540 Dolichocolon/megacolon/megadolichocolon/Hirschsprung's disease Dolichocôlon/mégacôlon/mégadolichocôlon/Hirschsprung Dolichokolon/Megakolon/Megadolichokolon/Hirschsprung-Krankheit Dolicocolon/megacolon/megadolicocolon/enfermedad de Hirschsprun Dolicocolon/megacolon/megadolicocolon/malattia di Hirschsprung Dolicocolon/megacólon/megadolicocólon/doença de Hirschsprung hrdo:sgn_id_26560 Situs inversus visceral/heterotaxia/transposición de intestino/de colon Situs inversus visceral/transposição do cólon/intestino/heterotaxia Situs inversus visceralis/Kolon-/Intestinal-Transposition/Heterotaxie Situs inversus visceralis/colon/intestine trasposition/heterotaxia Situs inversus viscerum/trasposizione/eterotassia intestinale/del colon Transposition du côlon/de l'intestin grêle/situs inversus viscéral/hétérotaxie hrdo:sgn_id_26580 Colonic/intestinal/bowel diverticulosis/diverticulitis Diverticolosi/diverticolite del colon/dell'intestino/dei visceri Diverticule/diverticulose/diverticulite de l'intestin/côlon/colique/intestinale Diverticulose/diverticulite do cólon/intestino Diverticulosis/diverticulitis intestinal/de intestino/de colon Divertikulose/Divertikulitis des Verdauungstraktes/Darms/Kolons hrdo:sgn_id_26600 Diverticolo di Meckel Diverticule de Meckel Divertículo de Meckel Divertículo de Meckel Meckel diverticulum Meckel-Divertikulum hrdo:sgn_id_26620 Colonic/intestinal volvulus Volvo do cólon/intestino Volvolo intestinale/del colon Volvulus de l'intestin grêle/du côlon Volvulus des Verdauungstraktes/Kolons Vólvulo intestinal/de colon hrdo:sgn_id_26640 Doppelter Darm/Darmduplikatur Duplicación intestinal/de intestino Duplication de l'intestin grêle Duplicazione intestinale/viscerale Duplicação intestinal Intestinal/gut/bowel duplication hrdo:sgn_id_26660 Drehungsanomalien des Darmes Intestinal/gut/bowel malrotation Malrotación intestinal/de intestino Malrotation de l'intestin Malrotazione intestinale/viscerale Má rotação intestinal hrdo:sgn_id_26680 Intestin grêle court Intestino corto Intestino corto Intestino curto Short bowel kurzer Darm hrdo:sgn_id_26700 Colon corto Colon corto Cólon curto Côlon court Short colon kurzer Kolon hrdo:sgn_id_26720 Polipose do intestino/cólon Poliposi dell'intestino/del colon Poliposis de intestino/de colon Polypose colique/du côlon/de l'intestin grêle Polyposis des Darms/Kolon Polyposis of the bowel/colon/intestine hrdo:sgn_id_26740 Darmfistel Fistole intestinali Fistules intestinales Fístula intestinal Fístula intestinal/de intestino Intestinal/bowel fistulae hrdo:sgn_id_26760 Anomalias do ânus/recto Anomalie de l'anus et du rectum Anomalie dell'ano/del retto Anomalías de ano/de recto Anus/Rectum-Anomalien Anus/rectum anomalies hrdo:sgn_id_26780 Ano imperforado/atresia/agenesia de recto/fístula perineal/recto-vaginal/vesical Anoimperforato/atresia/agenesia retto/fistola retto-vaginale/vescicale/perineale Imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula Imperforation/atrésie anale/rectale/fistule recto-vaginale/vésicale/périnéale imperforierter Anus/Rektumatresie/rekto-vaginale/vestibuläre/perineale Fistel Ânus imperfurado/atresia/agenesia/fístula recto-vaginal/vesical/perineal hrdo:sgn_id_2680 Frente levantada Front haut Fronte alta Fronte alta High forehead hohe Stirn hrdo:sgn_id_26800 Anus ectopia/anteposition/malposition Ectopia/anteposizione/malposizione dell'ano Ectopia/anteposição/má posição do ânus Ectopie de l'anus/antéposition/malposition anale Ektopie/Anteposition/Fehlllage des Anus Malposición/anteposición/ectopía de ano hrdo:sgn_id_26820 Persistance du cloaque Persistance of the cloaca Persistencia de la cloaca Persistenza della cloaca Persistência da cloaca persistierende Kloake hrdo:sgn_id_26840 Anomalia estrutural do peritoneu Anomalia strutturale del peritoneo Anomalie de structure du péritoine Anomalía estructural del peritoneo Structural anomaly of the peritoneum Strukturanomalie des Peritoneums hrdo:sgn_id_26860 Ascite Ascite Ascite Ascitis Ascitis Aszites hrdo:sgn_id_27000 Anomalias funcionais do sistema digestivo Anomalie funzionali del sistema digestivo Anomalies fonctionnelles digestives Anomalías funcionales del sistema digestivo Functional anomalies of the digestive system funktionelle Anomalien des Verdauungstraktes hrdo:sgn_id_27030 Disfagia / anomalia da sucção/deglutição / discinésia esofágica Disturbi alimentazione/disfagia/disturbi deglutizione/suzione/discinesiaesofagea Feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia Fütterstörungen/Dysphagie/Saug-/Schluckstörung/ösophageale Dysphagie Trastorno alimentario/disfagia/trastorno succión/deglución/disquinesia esofágica Trouble de l'alimentation/déglutition/succion/dysphagie/dyskinésie œsophagienne hrdo:sgn_id_27060 Hipersialorrea Hipersialorreia Hypersialorrhea Hypersialorrhoe Hypersialorrhée Iperscialorrea hrdo:sgn_id_27090 Hiposialorrea Hiposialorreia Hyposialorrhea Hyposialorrhoe Hyposialorrhée Iposcialorrea hrdo:sgn_id_27120 Alitosi/alito pesante Halitose/mau hálito Halitose/mauvaise haleine Halitosis/Mundgeruch Halitosis/bad breath Halitosis/mal aliento hrdo:sgn_id_27150 Aufstoßen/Rülpsen Eructación/aerofagia Eructation/aerophagia Eructation/aérophagie Erutação/aerofagia Eruttazione/aerofagia hrdo:sgn_id_27180 Brechreiz/Erbrechen/Regurgitation/Meryzismus/Hyperemesis Nausea/vomiting/regurgitation/merycism/hyperemesis Nausea/vomito/rigurgito/mericismo/iperemesi Nauseas/vómitos/regurgitação/mericismo/hiperemese Nausées/vomissements/mérycisme/hyperémèse Naúsea/vómito/regurgitación/mericismo/hiperemesis hrdo:sgn_id_2720 Frente inclinada Front fuyant Fronte inclinada Fronte sfuggente Sloping forehead fliehende Stirn hrdo:sgn_id_27210 Brûlures épigastriques/aigreurs/épigastralgie/ulcère gastro-duodénal/gastrite Epigastralgia/ardor de estómago/úlcera duodenal/gástrica/gastritis Epigastralgia/asia / úlcera gástrica/duodenal / gastrite Epigastralgia/bruciori di stomaco/ulcera/gastrica/duodenale/gastrite Epigastralgia/heartburn/gastric/duodenal ulcer/gastritis Epigastralgie/Sodbrennen/Magen-/Zwölffingerdarmgeschwür/Gastritis hrdo:sgn_id_27240 Gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia Reflujo gastroesofágico/pirosis/esofagitis/hernia hiatal/gastroparesia Reflusso gastroesafageo/pirosi/esofagite/ernia iatale/gastroparesi Reflux gastro-œsophagien/pyrosis/œsophagite/hernie hiatale/gastroparésie Refluxo gastreoesofágico/pirose/esofagite/hérnia do hiato/gastroparesia gastroösophagealer Reflux/Sodbrennen/Ösophagitis/Hiatushernie/Gastroparese hrdo:sgn_id_27270 Esophageal varices Varices esofágicas Varices œsophagiennes Varici esofagee Varizes esofágicas Ösophagusvarizen hrdo:sgn_id_27300 Acute abdominal pain/colic Dolor abdominal agudo/cólico Dolore addominale acuto/colica Dor/cólica abdominal aguda Douleurs abdominales aiguës/coliques akuter Abdominalschmerz/Kolik hrdo:sgn_id_27330 Disturbo del transito intestinale Doença do trânsito intestinal Intestinal transit disorder Störung des intestinalen Transits Trastorno del tránsito intestinal Troubles du transit hrdo:sgn_id_27360 Diarrhée chronique/malabsorption intestinale/stéatorrhée Malabsorción/diarrea crónica/esteatorrea Malabsorption/chronic diarrhea/steatorrhea Malassorbimento/diarrea cronica/steatorrea Má absorção/diarreia crónica/esteatorreia chronischer Durchfall/Malabsorbtion/Steatorrhö hrdo:sgn_id_27390 Acute diarrhea Diarrea acuta Diarrea aguda Diarreia aguda Diarrhée aiguë akute Diarrhöe hrdo:sgn_id_27420 Feci mucose/feci acoliche Fezes mucosas/fezes acólicas Heces mucosas/acólicas Mucous stools/acholic stools Schleim im Stuhl/acholischer Stuhl Selles glaireuses/décolorées hrdo:sgn_id_27450 Encoprese/incontinência fecal Encopresi/incontinenza anale Encopresis/fecal incontinence Encopresis/incontinencia anal Encoprésie/incontinence anale Enkopresis/Stuhlinkontinenz hrdo:sgn_id_27480 Constipation Constipation Costipazione Estreñimiento Obstipation Obstipação hrdo:sgn_id_27510 Hiperperistalsis/hipoperistalsis Hiperperistaltismo/hipoperistaltismo Hyperperistalsis/hypoperistalsis Hyperperistaltik/Hypoperistaltik Hyperpéristaltisme/hypopéristaltisme Iperperistalsi/ipoperistalsi hrdo:sgn_id_27540 Colopatia funcional/síndrome do intestino irritável Colopatia funzionale/sindrome dell'intestino irritabile Colopatía funcional/síndrome de intestino irritable Functional colopathy/irritable bowel syndrome Intestin irritable/colopathie fonctionnelle funktionelle Kolopathie/Reizdarmsyndrom hrdo:sgn_id_27570 Doença intestinal inflamatória Enfermedad inflamatoria intestinal Inflammation intestinale/entérocolopathie inflammatoire Inflammatory intestinal disease Malattia infiammatoria intestinale entzündliche Darmkrankheit hrdo:sgn_id_2760 Broad forehead Frente ancha Front large Fronte ampia Fronte larga breite Stirn hrdo:sgn_id_27600 Gastrointestinal bleeding/hemorrhage/hematemesis/melena/rectorrhagia Hemorragia gastrointestinal/hematemese/melena/rectorragia Hémorragie gastro-intestinale/hématémèse/melæna/méléna/rectorragie Magenblutung/gastrointestinale/rektale Hämorrhagie/Hämatemesis/Teerstuhl/ Sangrado/hemorragia/ gastrointestinal/hematemesis/melena/rectorragia Sanguinamento/emorragia gastrointestinale/ematemesi/melena/rettorragia hrdo:sgn_id_27630 Darmverschluss/intestinale Obstruktion Intestinal obstruction/ileus Obstrucción intestinal/íleo paralítico Obstrução intestinal/do íleo Ostruzione intestinale/ileo Syndrome occlusif/occlusion intestinale/iléus/subocclusion intestinale hrdo:sgn_id_27660 Darmperforation Intestinal perforation Perforación intestinal Perforation intestinale Perforazione intestinale Perforação intestinal hrdo:sgn_id_27690 Absceso peritoneal/peritonitis Periotinite/ascesso peritoneale Peritonite/abcesso peritoneal Peritonitis/Bauchfellentzündung/peritonealer Abzess Peritonitis/peritoneal abscess Péritonite/abcès du péritoine hrdo:sgn_id_27720 Doenças peritoneais Enfermedades peritoneales Maladie du péritoine Malattie peritoneali Peritoneal diseases peritoneale Krankheit hrdo:sgn_id_2800 Frente estrecha Front étroit/rétraction temporale Fronte estreita Fronte stretta Narrow forehead schmale Stirn hrdo:sgn_id_28000 Anomalias estruturais do fígado e do tracto biliar Anomalie strutturali del fegato e del tratto biliare Anomalies de structure du foie et des voies biliaires Anomalías estructurales del hígado y del tracto biliar Structural anomalies of the liver and the biliary tract Strukturanomalie der Leber und der Gallenwege hrdo:sgn_id_28110 Anomalias da vesícula biliar/do ducto biliar comum Anomalie de la vésicule biliaire/du cholédoque Anomalie della cistifellea/del dotto biliare comune Anomalie der Gallenwege/Gallenblase Anomalías del conducto biliar común/vejiga Gallbladder/common bile duct anomalies hrdo:sgn_id_28220 Atresia/obstrução do tracto biliar intra-hepático Atresia/ostruzione del tratto biliare intraepatico Atrésie/obstruction des voies biliaires intrahépatiques Intrahepatic biliary tract atresia/obstruction Obstrucción/atresia del tracto biliar intrahepático intrahepatische Gallengangatresie/-obstruktion hrdo:sgn_id_28330 Atresia/obstrução do tracto biliar extra-hepático Atresia/ostruzione del tratto biliare extraepatico Atrésie/obstruction des voies biliaires extrahépatiques Extrahepatic biliary tract atresia/obstruction Obstrucción/atresia del tracto biliar extrahepático extrahepatische Gallengangatresie/-obstruktion hrdo:sgn_id_2840 Front bas Impianto basso dei capelli sulla fronte Implantação anterior baixa do cabelo Linea de nacimiento del cabello baja Low hair line-front Low hair line-front hrdo:sgn_id_28440 Abnormal liver lobulation Anomale Lobulation der Leber Lobulación anormal del hígado Lobulation hépatique anormale Lobulazione anomala del fegato Lobulação hepática anormal hrdo:sgn_id_28550 Fegato soprannumerario/trasposizione epatica/fegato/fegato sulla linea mediana Foie surnuméraire/foie médian/transposition hépatique Fígado supernumerário/fígado da linha média/transposição do fígado/hepática Hígado supernumerario/transposición hepática/de hígado/de línea media hepática Supernumerary liver/midline liver/liver/hepatic transposition überzählige Leber/hepatische Transposition/Fehllage der Leber hrdo:sgn_id_28660 Absence de foie/agénésie hépatique Agenesia/ausencia de hígado/hepática Assenza/agenesia epatica/del fegato Ausência/agenesia do fígado/hepática Leberagenesie/Fehlen der Leber Liver/hepatic absence/agenesis hrdo:sgn_id_28770 Congenital hepatic fibrosis Fibrose hepática congénita Fibrose hépatique congénitale Fibrosi epatica congenita Fibrosis hepática congénita kongenitale hepatische Fibrose hrdo:sgn_id_2880 Basilary impression/invagination/cranio-spinal malformation/platybasia Impresión/invaginación/malformación de cráneo y columna/platibasia basilar Impression basilaire/malformation de la charnière cranio-rachidienne/platybasie Impressione/invaginazione basilare/malformazione/platibasia cranio-spinale Impressão/invaginação basilar / malformação crânio-espinhal / platibasia basiliäre Impression/kranio-spinale Fehlbildung/Platybasie hrdo:sgn_id_28880 Doença poliquística do fígado/quistos hepáticos Enfermedad poliquística del hígado/quistes hepáticos Malattia epatica policistica/cisti epatiche Polycystic liver disease/hepatic cysts Polykystose hépatique/maladie polykystique du foie polyzystische Lenerkrankheit/hepatische Zysten hrdo:sgn_id_29000 Anomalias funcionais do fígado e do trato biliar Anomalie funzionali del fegato e del tratto biliare Anomalies fonctionnelles du foie et des voies biliaires Anomalías funcionales del hígado y del tracto biliar Functional anomalies of the liver and the biliary tract funktionelle Anomalien der Leber und der Gallenwege hrdo:sgn_id_29060 Biliary/gallbladder stones/lithiasis/cholecystitis Colecistite/litiasi/calcoli della cistifellea/biliari Cálculos biliarer/da vesícula biliar/litíase/colecistite Cálculos biliares/en la vesícula biliar/litiasis/colecistitis Gallensteine/Lithiasis/Cholezystitis Lithiase des voies biliaires/lithiase vésiculaire/cholécystite hrdo:sgn_id_29120 Cirrhose Cirrhosis Cirrose Cirrosi Cirrosis Zirrhose hrdo:sgn_id_29180 Epatite/ittero/colestasi Hepatite/ictericia/colestase Hepatitis, ictericia, colestasis Hepatitis/Ikterus/Cholestase Hepatitis/icterus/cholestasis Hépatite/ictère/cholestase hrdo:sgn_id_2920 Huesos wormianos Os wormiens Ossa wormiane Ossos wormianos Schaltknochen/Wormius-Knochen Wormian bones hrdo:sgn_id_29240 Doença hepática hepatocelular/insuficiência hepática Enfermedad hepatocelular del hígado/fallo hepático Hepatocellular liver disease/hepatic failure Insuffisance hépatique/défaillance hépatocellulaire Malattia epatica epatocellulare/insufficienza epatica hepatozelluläre Leberdysfunktion/Leberversagen hrdo:sgn_id_29300 Acute hepatic failure Fallo hepático agudo Insufficienza epatica acuta Insuffisance hépatique aiguë Insuficiência hepática aguda akutes Leberversagen hrdo:sgn_id_29360 Chronic hepatic failure Fallo hepático crónico Insufficienza epatica cronica Insuficiência hepática crónica chronisches Leberversagen insuffisance hépatique chronique hrdo:sgn_id_29420 Doença de armazenamento hepático Enfermedad de almacenamiento en el hígado Foie de surcharge Leberspeicherkrankheit Malattia epatica da deposito Storage liver disease hrdo:sgn_id_29480 Epatomegalia/ingrandimento epatico (esclusa malattia da deposito) Hepatomegalia/agrandamiento del hígado (excluyendo enfermedad de almacenamiento) Hepatomegalia/alargamento do fígado (excluindo doença de armazenamento) Hepatomegalie/Lebervergößerung (exkl. Speicherkrankheit) Hepatomegaly/liver enlargement (excluding storage disease) Hépatomégalie (sauf foie de surcharge) hrdo:sgn_id_29540 Esteatosis hepática/del hígado Estenose do fígado/hepática Liver/hepatic steatosis Steatosi epatica/del fegato Stéatose hépatique hepatische Steatose hrdo:sgn_id_2960 Bifid skull Cranio bifido Cráneo bífido Crâne bifide/cranium bifidum Crânio bífido Schädelspalte/Cranium bifidum hrdo:sgn_id_29600 Abcesso do fígado/hepático Abcès hépatique Absceso hepático/del hígado Ascesso epatico/del fegato Leberabszess Liver/hepatic abscess hrdo:sgn_id_29660 Abnormal hepatic enzymes/transaminases Anomale hepatische Enzyme/Transaminasen Anomalie degli enzimi epatici/transaminasi Anomalies des enzymes hépatiques/anomalies des transaminases Enzimas hepáticas/transaminases anormais Enzimas/transaminasas hepáticas anormales hrdo:sgn_id_29720 Hipertensión portal Hipertensão portal Hypertension portale Ipertensione portale Portal hypertension portale Hypertension hrdo:sgn_id_29780 Bilhämie Emobilia Hemobilia Hemobilia Hemobilia Hémobilie hrdo:sgn_id_3000 Anomalias da face/faciais Anomalie del volto/facciali Anomalies de la face/faciales Anomalías de la cara/faciales Face/facial anomalies Gesichtsanomalien/faziale Anomalien hrdo:sgn_id_30000 Anomalias estruturais do pâncreas Anomalie de structure et de fonction du pancréas Anomalie strutturali del pancreas Anomalías estructurales del pancreas Structural anomalies of the pancreas Strukturanomalie des Pankreas hrdo:sgn_id_30110 Absence congénitale/agénésie/aplasie/hypoplasie du pancréas Assenza/agenesia/aplasia/ipoplasia congenita del pancreas Ausencia congénita/agenesia/aplasia/hipoplasia del pancreas Ausência/agenesia/aplasia/hipoplasia congénita do pâncreas Congenital absence/agenesis/aplasia/hypoplasia of the pancreas kongenitale Aplasie/Hypoplasie/Agenesie/Fehlen des Pankreas hrdo:sgn_id_3020 Dismorfia facial Dismorfismo facciale Dismorfismo facial Dysmorphie faciale Facial dysmorphism faziale Dysmorphien hrdo:sgn_id_30220 Annular pancreas Pancreas anular Pancreas anulare Pancreas anulare/ringförmiger Pankreas Pancréas annulaire Pâncreas anelar hrdo:sgn_id_30330 Cisti pancreatica congenita Congenital pancreatic cyst Kyste pancréatique congénital Quiste pancreático congénito Quisto pancreático congénito kongenitale Pankreaszyste hrdo:sgn_id_3040 Cara redonda Faccia tonda Face redonda Face ronde Round face rundes Gesicht hrdo:sgn_id_30440 Pancreas ectópico/accesorio/aberrante/supernumerario Pancreas soprannumerario/aberrante/accessorio/ectopico Pancréas surnuméraire/pancréas aberrant/pancréas accessoire/ ectopie du pancréas Pâncreas supernumerário/aberrante/acessório/ectópico Supernumerary/aberrant/accessory/ectopic pancreas überzähliger/aberranter/akzessorischer/ektopischer Pankreas hrdo:sgn_id_30550 Fistola pancreatica Fistule pancréatique Fístula pancreática Fístula pancreática Pancreatic fistula Pankreasfistel hrdo:sgn_id_3060 Cara alargada Faccia stretta Face estreita Face étroite Narrow face schmales Gesicht hrdo:sgn_id_30660 Fibrose pancreática Fibrose pancréatique Fibrosi pancreatica Fibrosis pancreática Pancreatic fibrosis Pankreasfibrose hrdo:sgn_id_30770 Fallo pancreático/enfermedad de pancreas exocrino Insufficienza pancreatica/malattia del pancreas esocrino Insuffisance pancréatique/dysfonctionnement pancréatique exocrine Insuficiência pancreática/doença do pâncreas exócrino Pancreatic failure/exocrine pancreas disease Pankreasversagen/exokrine Pankreasstörung hrdo:sgn_id_3080 Cara grande Faccia larga Face larga Face large Large face großes Gesicht hrdo:sgn_id_30880 Pancreatite Pancreatite Pancreatitis Pancreatitis Pancréatite Pankreatitis hrdo:sgn_id_3100 Cara plana Faccia piatta Face achatada Face plate Flaches Gesicht Flat face hrdo:sgn_id_31000 Anomalias estruturais e funcionais do baço Anomalie de structure et de fonction de la rate Anomalie strutturali e funzionali della milza Anomalías funcionales y estructurales del bazo Structural and functional anomalies of the spleen strukturelle unnd funktionelle Anomalien der Milz hrdo:sgn_id_3120 Cara triangular Faccia triangolare Face triangulaire Face triangular Triangular face dreieckiges Gesicht hrdo:sgn_id_31300 Asplenia/poliesplenia/Lobulación de bazo/bazo accesorio Asplenia/poliesplenia/lobulação do baço/baço acessório Asplenia/polisplenia/lobulazione della milza/milza accessoria Asplenia/polysplenia/spleen lobulation/accessory spleen Asplenie/Polysplenie/Läppchenbildung der Milz/akzessorische Milz Asplénie/polysplénie/lobulation de la rate/rate accessoire hrdo:sgn_id_3140 Coarse face Faccia grossolana Face grosseira Face grossière Rasgos faciales toscos grobe Gesichtzüge hrdo:sgn_id_3160 Cara de rasgos finos/facies de elfo Faccia dai tratti fini/da elfo Face traits fins/faciès d'elfe Face élfica Fine/elfin-like face feine Gesichtzüge/Elfen-ähnliches Gesicht hrdo:sgn_id_31600 Esplenomegalia Esplenomegalia Splenomegalia Splenomegalie Splenomegaly Splénomégalie hrdo:sgn_id_3180 Cara inexpresiva/amimia Expressionless face/amimia Faccia inespressiva/amimia Face figée/amimie/faciès inexpressif Face sem expressão/aminia ausdrucksloses Gesicht/Amimie hrdo:sgn_id_31900 Hiperesplenismo Hiperesplenismo Hypersplenism Hypersplenismus Hypersplénisme Ipersplenismo hrdo:sgn_id_3200 Bochechas largas / face tipo querubim Broad cheeks/cherub-like/cherubin face Face de chérubin/joues rebondies/visage poupin Guance larghe/da cherubino/faccia da cherubino Mejillas anchas/aspecto de querubín/cara de querubín volle Wangen/engelähnliches Gesicht hrdo:sgn_id_32000 Anomalias estruturais do sistema respiratório e do diafragma Anomalie strutturali del sistema respiratorio e del diaframma Anomalies de structure de l'appareil respiratoire et du diaphragme Anomalías estructurales del sistema respiratorio y del diafragma Structural anomalies of the respiratory system and diaphragm Strukturanomalie des Atemwegssystems und des Zwerchfells hrdo:sgn_id_32040 Laringomalacia Laringomalacia Laringomalacia Laryngomalacia Laryngomalacie Laryngomalazie hrdo:sgn_id_32080 Agenesia da laringe/laríngea Agenesia laringea/de laringe Agenesia laringea/della laringe Agénésie du larynx Larynx/laryngeal agenesis Larynxagenesie hrdo:sgn_id_32120 Kehlkopflähmung/Larynxparese Larynx/laryngeal palsy Paralisi laringea/della laringe Paralysie laryngée/paralysie du larynx Parálisis laringea/de laringe Parésia da laringe/laríngea hrdo:sgn_id_32160 Atresia/estenose da laringe/laríngea Atresia/stenosi laringea/della laringe Estenosis/atresia laringea/de laringe Larynx/laryngeal stenosis/atresia Larynxstenose/-atresie Sténose laryngée/atrésie du larynx hrdo:sgn_id_3220 Cara alargada Faccia lunga Face longa Face longue Long face langes Gesicht hrdo:sgn_id_32200 Cisti sottoglottiche/epiglottiche/laringee/della laringe Kystes laryngés/épiglottiques/sous-glottiques Larynx/laryngeal/epiglottic/subglottic cysts Larynxzysten/epiglottische/subglottische Zysten Quistes subglóticos/epiglóticos/laringeos/de laringe Quistos da larínge/laríngeos/epiglóticos/subglóticos hrdo:sgn_id_32240 Atresia/estenose da traqueia Atresia/stenosi tracheale Atresie/Stenose der Trachea Atrésie de la trachée/sténose trachéale Estenosis/atresia traqueal Tracheal atresia/stenosis hrdo:sgn_id_32280 Tracheomalacia/tracheobronchomalacia Tracheomalacia/tracheobroncomalacia Tracheomalazie/Tracheobronchomalazie Trachéomalacie/trachéobronchomalacie Traqueomalacia/traqueobroncomalacia Traqueomalacia/traqueobroncomalacia hrdo:sgn_id_32320 Tracheomegalia/tracheobroncomegalia Tracheomegalie/Tracheobronchomegalie Tracheomegaly/tracheobronchomegaly Trachéomégalie/trachéobronchomégalie Traqueomagalia/traqueobroncomegalia Traqueomegalia/traqueobroncomegalia hrdo:sgn_id_32360 Aplasie des poumons/hypoplasie pulmonaire/agénésie pulmonaire Hypoplasie/Aplasie/Agenesie der Lungen Hypoplastic lungs/pulmonary hypoplasia/agenesis Polmoni ipoplasici/ipoplasia/agenesia polmonare Pulmones hipoplásicos/agenesia/hipoplasia pulmonar Pulmões hipoplásicos/hipoplasia/agenesia pulmonar hrdo:sgn_id_3240 Cara angulosa Faccia spigolosa Face afilada Sharp-shaped face Traits aiguisés scharfe Gesichtzüge hrdo:sgn_id_32400 Absent lobe/lung/segmentation defect/abnormal lobulation/sequestration Anomalie de la scissure/lobulation anormale du poumon/séquestration pulmonaire Anomalie der Lungensegmentation/Sequestration Assenza lobo/polmone/difetto segmentazione/lobulazione anomala/sequestrazione Lóbulo/pulmão ausente / defeito da segmentação/lobulação anormal / sequestro Lóbulo/pulmón ausente/defecto de segmentación/lobulación anormal/secuestro hrdo:sgn_id_32440 Agenesia/defecto/hernia diafragmática Anomalie/Hernie/Agenesie des Zwerchfells Diaphragmatic hernia/defect/agenesis Ernia/difetto/agenesia del diaframma Hernie diaphragmatique/agénésie du diaphragme Hérnia/defeito/agenesia diafragmática hrdo:sgn_id_32480 Diaphragmatic palsy Paralisi diaframmatica Paralysie du diaphragme Parálisis diafragmática Parésia diafragmática Zwerchfelllähmung hrdo:sgn_id_32520 Abnormal pleura/hydrothorax/pleuresia/pleural effusion/chylothorax Anomalie des Brustfells/Hydrothorax/Pleuritis/Pleuraerguss/Chylothorax Hydrothorax/anomalie de la plèvre/pleurésie/épanchement pleural/chylothorax Pleura anomala/idrotorace/pleuresia/effusione pleurale/chilotorace Pleura anormal/hidrotorax/pleuresia/derrame pleural/quilotórax Pleura anómala/hidrotórax/pleuresia/efusión pleural/quilotórax hrdo:sgn_id_32560 Alterações/anomalias radiológicas pulmonares Anomalie/alterazioni radiologiche del polmone Anomalies radiologiques pulmonaires Cambios/anormalidades radiológicas de pulmón Radiologic lung abnormalities/changes radiologische Lungenanomalien/-veränderungen hrdo:sgn_id_3260 Cara pequeña Faccia piccola Face pequena Face petite Small face kleine Gesicht hrdo:sgn_id_32600 Ground-glass/reticular/alveolar/interstitial lung/pulmonary opacity Milchglasverschattungen der Lunge/alveoläre/pulmonale interstitielle Krankheit Opacidad pulmonar/de pulmón/en vidrio esmerilado/reticular/intersticial/alveolar Opacidade vidro fosco/reticular/alveolar/intersticial pulmonar/do pulmão Opacità polmonare a vetro smerigliato/reticolare/alveolare/interstiziale Opacités pulmonaires/alvéolaires/en verre dépoli/réticulaires/interstitielles hrdo:sgn_id_32640 Infiltrado do pulmão/pulmonar Infiltrados pulmonares/de pulmón Infiltrati polmonari Infiltrats pulmonaires Lung/pulmonary infiltrates Lungeninfiltrate hrdo:sgn_id_32680 Adenopatias mediastínica/hilares Adenopatie mediastiniche/ilari Adenopatías hiliares/mediastinales Adénopathies médiastinales/hilaires Mediastinal/hilar adenopathies mediastinale/hiläre Adenopathien hrdo:sgn_id_32720 Edema polmonare Edema pulmonar Edema pulmonar Pulmonary edema pulmonales Ödem Œdème pulmonaire hrdo:sgn_id_32760 Fibrose pulmonaire Fibrose pulmonar Fibrosi polmonare Fibrosis pulmonar Lung fibrosis Lungenfibrose hrdo:sgn_id_3280 Facial palsy Gesichtlähmung Paralisi facciale Paralisia facial Paralysie faciale Parálisis facial hrdo:sgn_id_32800 Arteriovenous pulmonary fistulae Fistole polmonari arteriovenose Fistules artério-veineuses pulmonaires Fístula arteriovenosa pulmonar Fístula pulmonar arteriovenosa arteriovenöse pulmonale Fistel hrdo:sgn_id_32840 Anomalias mediastínicas Anomalie mediastiniche Anomalies du médiastin Anomalías mediastinales Mediastinal anomalies mediastinale Anomalien hrdo:sgn_id_3300 Asimetría de la estructura facial/hemiatrofia/hemihipertrofia Asimmetria facciale/emiatrofia facciale/emi-ipertrofia facciale Assimetria estrutural facial/hemiatrofia facial/hemi-hipertrofia facial Asymétrie de la face/atrophie hémifaciale/hypertrophie hémifaciale Facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy strukturelle Gesichtsasymmetrie/faziale Hemiatrophie/faziale Hemihypertrophie hrdo:sgn_id_33000 Anomalias funcionais do sistema respiratório e diafragma Anomalie funzionali del sistema respiratorio e del diaframma Anomalies fonctionnelles de l'appareil respiratoire et du diaphragme Anomalías funcionales del sistema respiratorio y del diafragma Functional anomalies of the respiratory system and diaphragm funktionelle Anomalien des Atemwegssystems und des Zwerchfells hrdo:sgn_id_33050 Dolor torácico/de pecho Dolore toracico Dor torácica/no peito Douleurs thoraciques Thoracic/chest pain Thoraxschmerz/Schmerzen im Brustkorb hrdo:sgn_id_33100 Atemnot/Dyspnoe/Lungenversagen/Lungenvolumenreduktion Dificuldade/insuficiência respiratória/ dispneia redução do volume pulmonar Dispnea/distress/insufficienza respiratoria/riduzione del volume polmonare Détresse/insuffisance respiratoire/dyspnée/réduction du volume pulmonaire Insuficiencia respiratoria/disnea/fallo respiratorio/reducción volumen pulmonar Respiratory distress/dyspnea/respiratory failure/lung volume reduction hrdo:sgn_id_33150 Anomalie della frequenza respiratoria Atemrhythmusstörung Patologia do ritmo respiratório Respiratory rhythm disorder Trastorno del ritmo respiratorio Troubles du rythme respiratoire hrdo:sgn_id_3320 Hipertelorismo Hipertelorismo Hypertelorism Hypertelorismus Hypertélorisme Ipertelorismo hrdo:sgn_id_33200 Apnea/apnea de sueño Apnea/apnea nel sonno Apnea/sleep apnea Apneia/apneia do sono Apnoe/schlafbezogene Atemstörung Apnée/apnée du sommeil hrdo:sgn_id_33250 Emphysem/Lungenzyste Emphysema Emphysème Enfisema Enfisema Enfisema hrdo:sgn_id_33300 Asma/broncoespasmos Asma/broncospasmo Asma/broncospasmo Asthma/Bronchospasmus Asthma/bronchospasm Asthme/bronchospasme hrdo:sgn_id_33350 Ausweitung der Bronchien/Bronchiektasie Bronchial dilation/dilatation/bronchiectasia Dilatación bronquial/bronquiectasia Dilatation des bronches/bronchectasie/bronchiectasie Dilatazione bronchiale/bronchiectasia Dilação/dilatação bronquica/bronquiectasia hrdo:sgn_id_3340 Hipotelorismo Hipotelorismo Hypotelorism Hypotelorismus Hypotélorisme Ipotelorismo hrdo:sgn_id_33400 Cough Husten Tos Tosse Tosse Toux hrdo:sgn_id_33450 Bluthusten/Hämoptyse Emottisi Hemoptise Hemoptisis Hemoptysis Hémoptysie hrdo:sgn_id_33500 Chronic hiccup Hipo crónico Hoquet chronique Singhiozzo cronico Soluços crónicos chronischer Schluckauf hrdo:sgn_id_33550 Emorragia/ematoma alveolare/polmonare Hemorragia/hematoma alveolar/pulmonar/del pulmón Hemorragia/hematoma do plumão/pulmonar/alveolar Hämorrhagie/Hämatom der Lunge/Alveolen/pulmonales System Hémorragie pulmonaire/hématome/hémorragie alvéolaire Lung/pulmonary/alveolar hemorrhage/hematoma hrdo:sgn_id_3360 Fente palpébrale mongoloïde/obliquité mongoloïde des fentes palpébrales Fissuras palpebrais inclinadas para cima/com inclinação mongolóide Fisuras palpebrales sesgadas hacia arriba/inclinadas tipo mongoloide Rime palpebrali oblique rivolte verso l'alto/rime palpebrali oblique mongoloidi Upslanted palpebral fissures/mongoloid slanting palpebral fissures aufsteigende Lidachsen/mongoloide Lidspalte hrdo:sgn_id_33600 Atelectasia/Colapso pulmonar Atelectasia/colapso pulmonar Atelectasia/pulmonary collapse Atelektasie/Lungenkollaps Atelettasia/collasso polmonare Atélectasie/collapsus pulmonaire hrdo:sgn_id_33650 Hipertensión pulmonar Hipertensão pulmonar Hypertension artérielle pulmonaire Ipertensione polmonare Pulmonary hypertension pulmonale Hypertension hrdo:sgn_id_33700 Bronchogenic cyst Cisti broncogena Kyste bronchogénique Quiste broncogénico Quistos broncogénicos bronchogene Zyste hrdo:sgn_id_33750 Abnormal cry/voice/phonation disorder/nasal speech Anomalie de la phonation/cri faible ou aigu/voix nasonnée Choro/voz anormal / patologia da fonação / fala anasalada Pianto anomalo/anomalie della voce/fonazione/voce nasale Voz anómala/trastorno de la fonación/habla nasal anomale Schrei/Stimme/Störung der Stimmbildung/nasale Sprache hrdo:sgn_id_3380 Downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures Fente palpébrale anti-mongoloïde/obliquité anti-mongoloïde Fissuras palpebrais inclinadas para baixo/com inclinação antimongolóide Fisuras palpebrales sesgadas hacia abajo/inclinadas tipo no mongoloide Rime palpebrali oblique verso il basso/rime palpebrali oblique anti-mongoloidi abfallende Lidachsen/anti-mongoloide Lidspalte hrdo:sgn_id_33800 Interstitial/restrictive pneumopathy/restrictive respiratory syndrome Neumopatía restrictiva/intersticial/síndrome respiratorio restrictivo Pneumopathie interstitielle/restrictive/syndrome restrictif respiratoire Pneumopatia intersticial/restrictiva/ síndrome respiratório restritivo Pneumopatia restrittiva/interstiziale/sindrome respiratoria restrittiva interstitielle/restriktive Pneumopathie/restriktives Respiratorisches Syndrom hrdo:sgn_id_33850 Bronchiolite Bronchiolite Bronchiolitis Bronchiolitis Broncoquiolite Bronquiolitis hrdo:sgn_id_33900 Infecciones respiratorias repetidas Infections respiratoires à répétition Infezioni respiratorie ricorrenti Infeções respiratórias de repetição Repeat respiratory infections wiederholte Atemwegsinfektionen hrdo:sgn_id_33950 BPCO/bronchopneumopathie chronique obstructive/syndrome obstructif respiratoire Chronic obstructive pulmonary disease/COPD/obstructive respiratory syndrome Doença pulmonar obstrutiva crónica/DPOC/ síndrome respiratório obstrutivo Enfermed. de obstrucción pulmonar crónica/EPOC/síndrome obstructivo respiratorio Malattia polmonare ostruttiva cronica/COPD/sindrome respiratoria ostruttiva chronisch obstruktive Lungenkrankheit /COPD/obstruktives Atemwegssyndrom hrdo:sgn_id_3400 Arcada supraorbital proeminente Cresta sopraorbitale prominente Prominent supraorbital ridge Rebord orbitaire saillant Reborde supraorbitario prominente prominente Supraorbitalwülste hrdo:sgn_id_34000 Anomalias estruturais do sistema cardio-circulatório Anomalie strutturali del sistema cardio-circolatorio Anomalies de structure du cœur et des vaisseaux Anomalías estructurales del sistema cardiocirculatorio Structural anomalies of the cardio-circulatory system Strukturanomalie des kardiozirkulatorischen Systems hrdo:sgn_id_34020 Cardiac valvulopathy Valvulopathie cardiaque Valvulopatia cardiaca Valvulopatia cardíaca Valvulopatía cardiaca kardiale Valvulopathie hrdo:sgn_id_34040 Anomalie de l'orifice mitral/prolapsus/insuffisance/régurgitation mitrale Anomalía de anillo/insuficiencia/regurgitación/prolapso de válvula mitral Mitral valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly Mitralklappenprolaps/-inkompetenz/-insuffizienz/Mitralklappenringanomalie Prolapso/insuficiência/regurgitação/anomalia em anel da válvula mitral Prolasso/incompetenza/insufficienza/rigurgito/anomalia anello valvola mitrale hrdo:sgn_id_34060 Atresia/estenose/estreitamento da válvula mitral Atresia/estenosis/estrechamiento de la válvula mitral Atresia/stenosi/restringimento della valvola mitrale Atrésie de la valve mitrale/sténose mitrale/rétrécissement mitral Mitral valve atresia/stenosis/narrowing Mitralklappenatresie/-stenose hrdo:sgn_id_34080 Anomalie de l'orifice tricuspide/insuffisance/régurgitation tricuspide/dienne Anomalie/Prolaps/Inkompetenz/Insuffizienz der Trikusipdalklappe Anomalía de anillo/insuficiencia/regurgitación/prolapso de válvula tricúspide Prolapso/insuficiÍncia/regurgitação/anomalia em anel da válvula tricúspide Prolasso/incompetenza/insufficienza/rigurgito/anomalia anello valvola tricuspide Tricuspid valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly hrdo:sgn_id_34100 Atresia/estenose/estreitamento da válvula tricuspide Atresia/estenosis/estrechamiento de la válvula tricúspide Atresia/stenosi/restringimento della valvola tricuspide Atresie/Stenose/Verengung der Trikusipdalklappe Atrésie tricuspide/sténose tricuspide/rétrécissement de la valve tricuspide tricuspid valve atresia/stenosis/narrowing hrdo:sgn_id_34120 Anomalia/incompetenza/insufficienza/rigurgito/bicuspidia della valvola aortica Anomalia/insuficiência/regurgitação da válvula aórtica / vávula bicuspide Anomalie/insuffisance/régurgitation aortique/valve aortique bicuspide Anomalía/incompetencia/insuficiencia/regurgitación de válvula aórtica/bicúspide Aortenklappenanomalie/-insuffizienz/Regurgitation/bikuspide Aortenklappe Aortic valve anomaly/incompetence/insufficiency/regurgitation/bicuspid hrdo:sgn_id_34140 Aortenklappenatresie/-stenose/supraaortale/supravalvuläre Stenose Aortic valve atresia/stenosis/narrowing/supra-aortic/supra-valvular stenosis Atresia/estenose/estreitamento válvula aórtica/estenose supra-aórtica Atresia/estenosis/ de válvula aórtica/estenosis supravalvular/supraaórtica Atresia/stenosi/restringimento valvola aortica/stenosi sopra-aortica/-valvolare Atrésie aortique/sténose aortique/rétrécissement valvulaire supra-aortique hrdo:sgn_id_34160 Anomalia/incompetenza/insufficienza/rigurgito della valvola polmonare Anomalia/incompetência/insuficiência/regurgitação da válvula pulmonar Anomalie de la valve pulmonaire/insuffisance/régurgitation pulmonaire Anomalía/incompetencia/insuficiencia/regurgitación de válvula pulmonar Pulmonalklappenanomalie/-inkompetenz/insuffizienz Pulmonary valve anomaly/incompetence/insufficiency/regurgitation hrdo:sgn_id_34180 Atresia/estenose/estreitamento da válvula pulmonar Atresia/estenosis/estrechamiento de válvula pulmonar Atresia/stenosi/restringimento della valvola polmonare Atrésie/sténose des valves pulmonaires/de la valve pulmonaire/valvulaire Pulmonalklappenatresie/-stenose/-verengung Pulmonary valve atresia/stenosis/narrowing hrdo:sgn_id_3420 Arcada supraorbital plano Cresta sopraorbitale piatta Flat supraorbital ridge Rebord orbitaire plat Reborde supraorbitario plano flache Orbitalränder hrdo:sgn_id_34200 Cardiomegalia Cardiomegalia Cardiomegalia Cardiomegaly Cardiomégalie Kardiomegalie hrdo:sgn_id_34220 Destrocardia/posizione cardiaca anomala/eterotassia cardiaca/situs inversus Dextrocardia/abnormal heart position/cardiac heterotaxia/situs inversus Dextrocardia/posición anómala del corazón/heterotaxia cardiaca/situs inversus Dextrocardia/posição anormal do coração/heterotaxia cardíaca/situs inversus Dextrocardie/cœur en position anormale/hétérotaxie cardiaque/situs inversus Dextrokardie/anormale Herzposition/kardiale Heterotaxie/Situs inversus hrdo:sgn_id_34240 Cardiac diverticulum Diverticolo cardiaco Diverticule cardiaque Divertículo cardiaco Divertículo cardíaco Herzdivertikel hrdo:sgn_id_34260 Anomalia/malformação cardíaca congénita/cardiopatia Anomalía/malformación congénita cardiaca/cardiopatía Cardiopathie congénitale/malformation cardiaque Cardiopatia/anomalia/malformazione cardiaca congenita Congenital cardiac anomaly/malformation/cardiopathy kongenitale Herzanomalie/-fehlbildung/Kardiopathie hrdo:sgn_id_34280 Anomalie des pulmonalvenösen Rückstroms Anomalous pulmonary venous return Retorno venoso pulmonar anormal Retorno venoso pulmonar anómalo Retour veineux pulmonaire anormal Ritorno venoso polmonare anomalo hrdo:sgn_id_34300 Corazón/ventrículo izquierdo hipoplásico Coração/ventrículo esquerdo hipoplásico Hypoplasie du ventricule gauche/hypoplasie du cœur gauche Hypoplastic left heart/ventricle Hypoplastisches Linksherz Ventricolo/cuore sinistro ipoplasico hrdo:sgn_id_34320 Anomalie der Aorta/Aortenstenose/-insuffizienz/Aortenbogenunterbrechung Anomalie/hypoplasie/coarctation/sténose de l'aorte/interruption arc aortique Anomalía/estenosis/coartación de aorta hipoplásica/interrupción del arco aórtico Aorta hipoplásica/coartação/estenose/anomalia/interrupção do arco aórtico Aorta ipoplasica/coartazione/stenosi/anomalia/interruzione dell'arco aortico Hypoplastic aorta/coarctation/stenosis/anomaly/aortic arch interruption hrdo:sgn_id_34340 Destroposizione dell'aorta Dextraposition de l'aorte Dextroposición de la aorta Dextroposition of aorta Dextroposição da aorta rechte Aortenlage hrdo:sgn_id_34360 Transposición de los grandes vasos Transposition der großen Gefäße Transposition of great vessels Transposition/malposition des gros vaisseaux Transposição dos grandes vasos Trasposizione dei grandi vasi hrdo:sgn_id_34380 Fallot-Tetralogie Tetralogia de Fallot/trilogia de Fallot Tetralogia di Fallot/trilogia di Fallot Tetralogy of Fallot/trilogy of Fallot Tetralogía de Fallot/trilogía de Fallot Tétralogie de Fallot/trilogie de Fallot hrdo:sgn_id_3440 Exophtalmie/saillie du globe oculaire/proptosis Exophthalmos Proptose/exoftalmia Proptosi/esoftalmo Proptosis/exoftalmos Proptosis/exophthalmos hrdo:sgn_id_34400 Common arterial trunk/truncal valve Tronc artériel commun/valve troncale Tronco arterial comum/válvula truncal Tronco arterioso comune/valvola troncale Tronco arterioso común/Válvula truncal Truncus arteriosus communis/Fehlbildung der Trunkusklappe hrdo:sgn_id_34420 Estenose da artéria pulmonar/ausência/hipoplasia dos ramos pulmonares Estenosis de la arteria pulmonar/ausencia/hipoplasia de las ramas pulmonares Pulmonalarterienstenose/Hypoplasie/fehlender Lungenarterienast Pulmonary artery stenosis/absence/hypoplasia of the pulmonary branches Stenosi/assenza dell'arteria polmonare/ipoplasia dei rami dell'arteria polmonare Sténose ou absence de l'artère pulmonaire/hypoplasie des branches pulmonaires hrdo:sgn_id_34440 Anomalie du septum/ malformation septale Cardiac septal defect Defecto septal cardiaco Deficiência do septo cardíaco Difetto del setto cardiaco Septumanomalie des Herzens hrdo:sgn_id_34460 Atrial septal defect/interauricular communication Communication interauriculaire/CIA Defecto septal atrial/comunicación interauricular Deficiência do septo auricular/comunicação interauricular Difetto del setto atriale/comunicazione interauricolare Vorhof-Septumdefekt/intraatriale Kommunikation hrdo:sgn_id_34480 Communication interventriculaire/CIV Defecto septal ventricular/comunicación interventricular Deficiência do septo ventricular/comunicação interventricular Difetto del setto ventricolare/comunicazione interventricolare Ventricular septal defect/interventricular communication Ventrikelseptumdefekt/interventrikuläre Kommunikation hrdo:sgn_id_34500 Atrioventricular canal Canal atrio-ventriculaire Canal atrioventricular Canal auriculoventricular Canale atrioventricolare atrioventrikulärer Kanal hrdo:sgn_id_34520 Dotto arterioso pervio Ducto arterioso patente Ductus arterioso permeable Patent ductus arteriosus Persistance du canal artériel offener Ductus arteriosus hrdo:sgn_id_34540 Cardiomiopatia hipertrófica/dilatada Cardiomiopatia ipertrofica/dilatativa Cardiomiopatía hipertrófica/dilatada Cardiomyopathie/cardiomyopathie hypertrophique/dilatée Cardiomyopathy/hypertrophic/dilated dilatative/hypertrophische Kardiomyopathie hrdo:sgn_id_34560 Anomalias do miocárdio/miocardite Anomalie del miocardio/miocardite Anomalie du myocarde/myocardite Anomalías del miocardio/miocarditis Myocardium anomalies/myocarditis Myokardanomalien/Myokarditis hrdo:sgn_id_34580 Anomalias do pericárdio/pericardite/ausência/quistos/efusão pericárdia Anomalie des Herzbeutels/Perikarditis/fehlendes Perikard/Perikarderguss/-zyste Anomalie/absence/kystes du péricarde/péricardite/épanchement péricardique Anomalie/assenza/cisti del pericardio/pericardite/effusione pericardica Anomalías del pericardio/pericarditis/ausencia/quistes/efusión pericardica Pericardium anomalies/pericarditis/absence/cysts/pericardial effusion hrdo:sgn_id_3460 Deepset eyes/enophthalmos Enophtalmie/yeux enfoncés Enophthalmus Occhi incavati/enoftalmo Ojos hundidos/enoftalmos Olhos profundos/enoftalmia hrdo:sgn_id_34600 Anomalias do endocárdio/fibroelastose/endocardite Anomalie de l'endocarde/endocarde fibroélastique/endocardite Anomalie dell'endocardio/fibroelastosi/endocardite Anomalien des Endokardiums/Endokarditis/Endokard-Fibroelastose Anomalías del endocardio/fibroelastosis/endocarditis Endocardium anomalies/fibroelastosis/endocarditis hrdo:sgn_id_34620 Anévrysme de l'aorte/anévrisme/dilatation de l'aorte Aortenwurzeldilatation/-aneurysma Aortic root dilatation/dilation/aneurysm Dilatación de la raíz aórtica/aneurisma Dilatazione/aneurisma della radice aortica Dilatação/aneurisma da raíz aórtica hrdo:sgn_id_34640 Aortendissektion Aortic dissection Disección aórtica Dissection aortique Dissezione aortica Disseção aórtica hrdo:sgn_id_34660 Aortendilatation Aortic dilatation/dilation Dilatación aórtica Dilatation aortique Dilatazione aortica Dilatação aórtica hrdo:sgn_id_34680 Anomalias da veis pulmonares Anomalie delle vene polmonari Anomalie des veines pulmonaires Anomalien der Pulmonalvenen Anomalías de las venas pulmonares Pulmonary veins anomalies hrdo:sgn_id_34700 Fistola arteriovenosa periferica Fistule artério-veineuse périphérique Fístula arteriovenosa periférica Fístula arteriovenosa periférica Peripheral arteriovenous fistula periphere arteriovenöse Fistel hrdo:sgn_id_34720 Anomalias da artéria carótida Anomalie dell'arteria carotide Anomalien der Karotisarterie Anomalies des artères carotides Anomalías de la arteria carótida Carotid artery anomalies hrdo:sgn_id_34740 Arteria ombelicale unica Arteria umbilical única Artère ombilicale unique Artéria umbilical única Single umbilical artery singuläre Nabelschnurarterie hrdo:sgn_id_34760 Angiomatose visceral (excluindo pele) Angiomatose viscérale (autre que peau) Angiomatosi viscerale (esclusa la cute) Angiomatosis visceral (excluyendo la piel) Visceral angiomatosis (excluding skin) viszerale Angiomatose (exklusive Haut) hrdo:sgn_id_34780 'Malformações arteriovenosas/vasculares (excluindo manchas ''vinho do porto'')' Arteriovenous malformations/vascular malformations (excluding port-wine stains) Malformaciones arteriovenosas/malformac. vasculares (excl. manchas vino Oporto) Malformation artério-veineuse/malformation vasculaire (autre qu'angiome plan) Malformazioni arteriovenose/malformazioni vascolari (escluse macchie vino Porto) arteriovenöse/vaskuläre Fehlbildungen (exkl. Portweinflecken) hrdo:sgn_id_3480 Hipoplasia do terço médio da face / Terço médio da face pequeno/curto Hipoplasia mediofacial/tercio medio de la cara corto/pequeño Hypoplasie médiofaciale/étage moyen de la face de hauteur réduite Ipoplasia medio-facciale/parte media della faccia piccola/corta Mid-facial hypoplasia/short/small midface Mittelgesichtshypoplasie/kurzes/schmales Mittelgesicht hrdo:sgn_id_34800 Anomalias do arcos aórticos Anomalie degli archi aortici Anomalie des Aortenbogens Anomalie des arcs aortiques Anomalías de los arcos aórticos Aortic arches anomalies hrdo:sgn_id_3500 Etage moyen de la face allongé Long midface Parte media de la cara alargada Parte media della faccia lunga Terço médio da face longo langes Mittelgesicht hrdo:sgn_id_35000 Anomalias funcionais do sistema cardio-circulatório Anomalie funzionali del sistema cardio-circolatorio Anomalies fonctionnelles du cœur et des vaisseaux Anomalías funcionales del sistema cardiocirculatorio Functional anomalies of the cardio-circulatory system funktionelle Anomalien des kardiozirkulatorischen Systems hrdo:sgn_id_35030 Anomalie della frequenza cardiaca/aritmia Cardiac rhythm disorder/arrhythmia Herzrhythmusstörung/Arrhythmie Patologia do ritmo cardíaco/arritmia Trastorno del ritmo cardiaco/arritmia Troubles du rythme/arythmie hrdo:sgn_id_35060 Cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block Defeito condução caríaca/sinoauricular/auriculoventricular/bloqueio de ramo Difetto conduzione cuore/blocco di branca/atrioventricolare/senoatriale/cardiaco Trast.conduc.cardiaca/bloqueo de rama/auriculoventricular/corazón/sinoauricular Troubles de la conduction/bloc sinusal/auriculo-ventriculaire/de branche kardiale Reizleitungstörung/sinoaurikulärer/atrioventrikulärer/Herzblock hrdo:sgn_id_35090 Angina de pecho/infarto de miocardio Angina pectoris/Myokardinfektion Angina pectoris/infarto miocardico Angine de poitrine/angor/infarctus du myocarde Angor pectoris/enfarte do miocárdio Angor pectoris/myocardial infarction hrdo:sgn_id_35120 Colapso/morte súbita/paragem cardíaca/paragem cardiorespiratória Colapso/muerte súbita/paro cardiaco/paro cardiorrespiratorio Collapse/sudden death/cardiac arrest/cardiorespiratory arrest Collasso/morte improvvisa/arresto cardiaco/arresto cardiorespiratorio Kollaps/plötzlicher Tod/Herzstillstand/Herz-Kreislauf-Stillstand Syncope/mort subite/arrêt cardiaque/cardio-pulmonaire/cardio-respiratoire hrdo:sgn_id_35150 Heart/cardiac failure Herzversagen Insufficienza cardiaca Insuffisance cardiaque Insuficiencia cardiaca/del corazón Insuficiência do coração/cardíaca hrdo:sgn_id_35180 Chronic arterial hypertension Hipertensión arterial crónica Hipertensão arterial crónica Hypertension artérielle chronique Ipertensione arteriosa cronica chronischer Bluthochdruck hrdo:sgn_id_3520 Prominent premaxillary region/midface Protrusion de l'étage moyen de la face Regione premascellare/parte media della faccia prominenti Região premaxilar/terço médio da face proeminente Región premaxilar/parte media de la cara prominente prominentes Mittelgesicht hrdo:sgn_id_35210 Acute arterial hypertension/hypertensive crisis Hipertensión arterial aguda/Crisis hipertensiva Hipertensão arterial aguda/crise hipertensiva Hypertension artérielle aiguë/crises hypertensives Iperensione arteriosa acuta/crisi ipertensiva akute arterielle Hypertension/Bluthochdruck/hypertensive Krise hrdo:sgn_id_35240 Hipotensión Hipotensão Hypotension Hypotension Hypotension/Hypotonie Ipotensione hrdo:sgn_id_35270 Acrocianose/fenómeno de Raynaud/patologias vasomotoras Acrocianosi/fenomeno di Raynaud/disturbi vasomotori Acrocianosis/fenómeno de Raynaud/Trastornos vasomotores Acrocyanosis/Raynaud's phenomenon/vasomotor disorders Akrozyanose/Raynaud-Phänomen/vasomotorische Störung Phénomène de Raynaud/acrocyanose/acrosyndrome/troubles vasomoteurs hrdo:sgn_id_35300 Arterial embolism/thrombosis Embolie artérielle/thrombose artérielle Embolismo arterial/trombosis Embolismo/trombose arterial Embolismo/trombosi arteriosa arterielle Embolie/Thrombose hrdo:sgn_id_35330 Embolie pulmonaire/thrombo-embolisme pulmonaire Pulmonary thromboembolism Tromboembolismo polmonare Tromboembolismo pulmonar Tromboembolismo pulmonar pulmonale Thromboembolie hrdo:sgn_id_35360 Arterial stenosis/occlusion Arterienstenose/verschluss Estenose/oclusão arterial Estenosis/oclusión arterial Stenosi/occlusione arteriosa Sténose artérielle/occlusion artérielle hrdo:sgn_id_35390 Abolición del pulso arterial Abolition du pouls artériel Abolizione del polso arterioso Abolição do pulso arterial Arterial pulse abolition schwacher/gestörter arterieller Puls hrdo:sgn_id_3540 Depressed premaxillary region/midface Etage moyen de la face enfoncé Regione premascellare/parte media della faccia depresse Região premaxilar/terço médio da face deprimida Región premaxilar/parte media de la cara hundida flaches Mittelgesicht hrdo:sgn_id_35420 Estenose venosa Estenosis venosa Stenosi venosa Sténose veineuse Venenstenose Venous stenosis hrdo:sgn_id_35450 Thrombose veineuse/phlébite/thrombophlébite Trombose venosa/flebite/tromboflebite Trombosi/flebite/tromboflebite venosa Trombosis venosa/flebitis/tromboflebitis Venenthrombose/Phlebitis/Thrombophlebitis Venous thrombosis/phlebitis/thrombophlebitis hrdo:sgn_id_35480 Edema das pernas/dos membros inferiores Edema de piernas/extremidades inferiores Edema delle gambe/degli arti inferiori Edema of the legs/lower limbs Œdème des membres inférieurs Ödem der Beine/unteren Gliedmaßen hrdo:sgn_id_35510 Arterial atheroma/precocious atherosclerosis/arteriosclerosis Ateroma arterial/ateroesclerose precoce/arterioesclerose Ateroma arterial/aterosclerosis precoz/arterioesclerosis Ateroma arterioso/aterosclerosi/arteriosclerosi precoce Athérome artériel/athérosclérose/artériosclérose précoce arterielles Atherom/vorzeitige Atherosklerose/Arteriosklerose hrdo:sgn_id_35540 Aneurisma arterial (excluindo a aorta) Aneurisma arterial (excluyendo la aorta) Aneurisma arterioso (aorta esclusa) Anévrysme artériel/anévrisme (autre que aorte) Arterial aneurism (excluding aorta) Arterienaneurysma (exkl. Aorta) hrdo:sgn_id_35570 Dilatación de la vena de Galeno Dilatation de la veine de Galien Dilatation der V. Galeni Dilatazione della vena di Galeno Dilatação/dilação da veia de Galeno Vein of Galien dilatation/dilation hrdo:sgn_id_3560 High cheek bones Huesos de las mejillas altos Ossa zigomatiche alte Pommettes saillantes Zigomáticos proeminentes hohe Wangenknochen hrdo:sgn_id_35600 Aparición fácil de hematomas Bruisability Fragilité capillaire Hematomas fáceis Kapillarfragilität Tendenza all'ecchimosi hrdo:sgn_id_35630 Arterial rupture Arterienruptur/-riss Rottura arteriosa Rotura arterial Ruptura arterial Rupture artérielle hrdo:sgn_id_35660 Varices/dilatation variqueuse/insuffisance veineuse Varices/varicous veins/venous insufficiency Varices/venas varicosas/insuficiencia venosa Varici/vene varicose/insufficienza venosa Varizen/Krampfadern/Veneninsuffizienz Varizes/veias varicosas/insuficiência venosa hrdo:sgn_id_35690 Vascularite/inflammation des artères/artérite/inflammation des vaisseaux Vascularitis/arteritis Vascularitis/vasculitides/arteritis Vasculite/arterite Vasculite/arterite Vaskulitis/Vaskulitiden/Arteriitis hrdo:sgn_id_35720 Acute ischemic syndrome Sindrome ischemica acuta Syndrome ischémique aigu Síndrome isquémico agudo Síndrome isquémico agudo akutes Ischämie-Syndrom hrdo:sgn_id_35750 Acute ischemia of the lower limbs Ischemia acuta degli arti inferiori Ischémie aiguë des membres inférieurs Isquemia aguda de las extremidades inferiores Isquemia aguda dos membros inferiores akute Ischämie der unteren Gliedmaßen hrdo:sgn_id_35780 Enfarte mesentérico/intestinal Infarctus intestino-mésentérique Infarto mesenterico/intestinale Infarto mesentérico /intestinal Mesenterialinfarkt Mesenteric/intestinal infarction hrdo:sgn_id_3580 Flat cheek bones/malar hypoplasia Huesos de las mejillas planos/hipoplasia malar Ossa zigomatiche piatte/ipoplasia malare Pommettes plates/hypoplasie malaire Zigomáticos planos / hipoplasia malar flaches Mittelgesicht/Malarhypoplasie hrdo:sgn_id_35810 Gangrena/necrose Gangrena/necrosi Gangrena/necrosis Gangrena/necrosis Gangrän/Nekrose Gangrène/nécrose hrdo:sgn_id_3600 Huesos de las mejillas/cigomáticos/maxilares con hipoplasia Hypoplasie du maxillaire supérieur/hypoplasie des arcs zygomatiques Hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia Maxilas/zigomáticos hipoplásicos / hipoplasia maxilar Ossa mascellari/ossa zigomatiche ipoplasiche/ipoplasia mascellare hypoplastische maxilläre Knochen/Jochbeinknochen/maxilläre Hypoplasie hrdo:sgn_id_36000 Anomalias do sistema linfático Anomalie del sistema linfatico Anomalien des lymphatischen Systems Anomalies du système lymphatique Anomalies of the lymphatic system Anomalías del sistema linfático hrdo:sgn_id_36150 Linfadenopatia/poliadenopatia Linfadenopatía/poliadenopatía Linfoadenopatia/poliadenopatie Lymphadenopathie/Polyadenopathie Lymphadenopathy/polyadenopathies Polyadénopathies/adénopathies hrdo:sgn_id_3620 Appendici cutanee sulle guance Bourgeons cutanés sur les joues Hautanhängsel der Wange Marcas en la piel de las mejillas Pólipos cutâneos nas bochechas Tags on cheeks hrdo:sgn_id_36300 Aplasia/hipoplasia tímica Aplasia/hipoplasia tímica Aplasia/ipoplasia timica Aplasie/hypoplasie du thymus Hypoplasie/Aplasie des Thymus Thymic aplasia/hypoplasia hrdo:sgn_id_3640 Prognathie Prognathism/prognathia Prognathisme/prognathie Prognatismo/prognatia Prognatismo/prognatia Prognatismo/prognazia hrdo:sgn_id_36450 Hiperplasia tímica Hiperplasia tímica Hyperplasie des Thymus Hyperplasie du thymus Iperplasia timica Thymic hyperplasia hrdo:sgn_id_3660 Micrognathia/retrognathia/micrognathism/retrognathism Micrognatia/retrognatia/micrognatismo/retrognatismo Micrognatia/retrognatia/micrognatismo/retrognatismo Micrognazia/retrognazia/micrognatismo/retrognatismo Mikrognathie/Retrognathie Rétrognathisme/micrognathisme/endognathie hrdo:sgn_id_36600 Linfangioma/malformaciones linfáticas Linfangioma/malformazioni linfatiche Linfangioma/malformações linfáticas Lymphangiom/lymphatische Fehlbildungen Lymphangioma/lymphatic malformations Lymphangiome/malformations lymphatiques hrdo:sgn_id_36750 Linfedema Linfedema Linfedema Lymphedema Lymphœdème/œdème lymphatique Lymphödem hrdo:sgn_id_3680 Hypoplasie mandibulaire/absence partielle de la mandibule/micromandibulie Hypoplastic mandibula/partial absence of the mandibula Mandibola ipoplasica/assenza parziale della mandibola Mandibula-Hypoplasie/partielles Fehlen der Mandibula Mandíbula con hipoplasia/absencia parcial de la mandíbula Mandíbula hipoplásica/ausência parcial da mandíbula hrdo:sgn_id_3700 Fosseta mentoniana Fossette mentonnière/polygénie Grooved/dimple chin Kinngrübchen/Kinnspalte Mento incavato/con fossetta Mentón con surco/hoyuelo hrdo:sgn_id_37000 Anomalias estruturais do rim e trato urinário Anomalie strutturali del rene e del tratto urinario Anomalies de structure de l'appareil urinaire Anomalías estructurales del riñón y del tracto urinario Structural anomalies of the kidney and the urinary tract Strukturanomalie der Niere und des Harntraktes hrdo:sgn_id_37040 Anomalias renais/do rim Anomalie renali/del rene Anomalies rénales Anomalías renales/del riñón Nierenanomalien Renal/kidney anomalies hrdo:sgn_id_37080 Agenesia/hipoplasia/aplasia de los riñones Agenesia/hipoplasia/aplasia dos rins Agenesia/ipoplasia/aplasia dei reni Agenesis/hypoplasia/aplasia of kidneys Agénésie d'un rein/hypoplasie/aplasie rénale Hypoplasie/Agenesie der Nieren hrdo:sgn_id_37120 Ectopic/horseshoe/fused kidneys Ectopie rénale/rein en fer a cheval Nierenektopie/Hufeisenniere Reni ectopici/fusi/a ferro di cavallo Rins ectópicos/em ferradura/fundidos Riñón fusionado/en herradura/ectópico hrdo:sgn_id_37160 Rein surnuméraire Rene soprannumerario Rim supernumerário Riñón supernumerario Supernumerary kidney überzählige Niere hrdo:sgn_id_3720 Mento afilado Mento appuntito Menton pointu Mentón puntiagudo Pointed chin betontes Kinn hrdo:sgn_id_37200 Dysplasie rénale multikystique Multicystic kidney/renal dysplasia Rene multicistico/displasia renale Rim multiquístico/displasia renal Riñón multiquístico/displasia renal multizystische Nieren/Nierendysplasie hrdo:sgn_id_37240 Polycystic kidneys Polykystose rénale/maladie polykystique rénale Polyzystische Nieren Reni policistici Rins poliquísticos Riñones poliquísticos hrdo:sgn_id_37280 Cisti renale (singola) Kyste rénal unique Quiste renal (único) Quisto renal (único) Renal cyst (single) einzelne Nierenzyste hrdo:sgn_id_37320 Nefroesclerose Nefroesclerosis Nefrosclerosi Nephrosclerosis Nephrosklerose Néphrosclérose hrdo:sgn_id_37360 Megacalicose Megacalicosi Megacalicosis Megakalikose Mégacalicose megacalicosis hrdo:sgn_id_3740 Alargamento da mandíbula / mandíbula larga Engrandamiento de la mandíbula/mandíbula grande Enlargment of jaw/large jaw Ingrandimento della mandibola/mandibola grande Mandibule large vergrößerter Kiefer hrdo:sgn_id_37400 Anomalias da bexiga e do ureter Anomalie della vescica e dell'uretere Anomalies de l'uretère et de la vessie Anomalías de vejiga y uréter Bladder and ureter anomalies Harnblasen- und Harnleiteranomalie hrdo:sgn_id_37440 Duplicación de uréter/cáliz/pelvis/uréter retroilíaco/retrocava/bífido Duplicazione uretere/calice/pelvi/uretere retroiliaco/retrocavale/bifido Duplikation der Ureter/Nierenkelche/-becken/gespaltener/retrokavaler Harnleiter Ureter/calyx/pelvis duplication/bifid/retrocava/retroiliac ureter Ureter/cálice/pelve bífido/duplicação/retrocava/retroilíaco Uretère-calice-pyelon bifide/uretère rétrocave/rétroiliaque hrdo:sgn_id_37480 Ureterocele/cystic dilation/dilatation of the ureter/ureterovasical stenosis Ureterocele/dilatación quística/dilatación del uréter/estenosis ureterovesical Ureterocele/dilatazione cistica/dilatazione uretere/stenosi ureterovescicale Ureterocele/dilatação quística/dilatação do ureter/estenose ureterovesical Ureterozele/zystische Dilatation/Ureterdilatation/uretero-vesikale Stenose Urétérocèle/kyste de l'uretère/sténose de l'orifice urétéro-vésical hrdo:sgn_id_37520 Bladder/cloacal exstrophy Blasen-/Kloakenekstrophie Estrofia della cloaca/della vescica Exostrofia da bexiga/cloacal Exstrophie vésicale/exstrophie cloacale Extrofia cloacal/de la vejiga hrdo:sgn_id_37560 Bladder/vesical diverticulum Blasendivertikel Diverticoli vescicali/della vescica Diverticule vésical Divertículo da bexiga/vesical Divertículo vesical/de la vejiga hrdo:sgn_id_3760 Dental malocclusion Mala oclusión dental Malocclusione dentale Malokklusion/Fehlbiss Mauvais articulé dentaire/inversion de l'articulé dentaire/malocclusion Má oclusão dentária hrdo:sgn_id_37600 Fistole urogenitali Fistule uro-génitale Fístula urogenital Fístula urogenital Urogenital fistulae Urogenitalfistel hrdo:sgn_id_37640 Cistocele Cistocele Cistocele Cystocele Cystocèle Zystozele hrdo:sgn_id_37680 Estenose/estreitamento ureteral Estenosis/estrechamiento uretral Stenosi/restringimento ureterale Sténose de l'uretère/rétrécissement urétéral Ureteral stenosis/narrowing Ureterstenose/Harnleiterstenose hrdo:sgn_id_37720 Hydronéphrose/syndrome de rétention pyélo-calicielle/méga-uretère Megaureter/Hydronephrose/Syndrom des pyeloureteralen Übergangs Megaureter/hidronefrose/síndrome da junção pieloureteral Megaureter/hydronephrosis/pyeloureteral junction syndrome Megauretere/idronefrosi/sindrome della giunzione pielo-ureterale Megauréter/hidronefrosis/síndrome de la unión pieloureteral hrdo:sgn_id_37760 Anomalias uretrais/estenose/válvulas uretrais posteriores/megaquistos Anomalie uretrali/stenosi/valvole uretrali posteriori/megalocisti Anomalien der Urethra/Urethrastenose/posteriore Urethralklappen/Megazystis Anomalies/sténose de l'urètre/valves de l'urètre postérieur/mégavessie Anomalías uretrales/estenosis/válvulas uretrales posteriores/megacistis Urethral anomalies/stenosis/posterior urethral valves/megalocystis hrdo:sgn_id_3780 Abertura limitada da boca Abertura limitada de la boca Apertura limitata della bocca Limitation à l'ouverture de la mâchoire Limited opening of the mouth behinderte Mundöffnung hrdo:sgn_id_37800 Reflujo vesico-renal/vesicoureteral Reflusso vescico-renale/vescico-ureterale Reflux vésico-rénal/reflux vésico-urétéral Refluxo vesicorrenal/vesicoureteral Vesicorenal/vesicoureteral reflux vesikorenaler/vesikouretaler Reflux hrdo:sgn_id_3800 Claudicación intermitente/dolor al masticar/mientras se masca Claudication/pain on mastication/while chewing Claudicazione/dolore durante la masticazione Claudicação/dor na mastigação Douleur à la mastication/claudication de la mâchoire Klaudikation/Schmerzen beim Kauen hrdo:sgn_id_38000 Anomalias funcionais do rim e do trato urinário Anomalie funzionali del rene e del tratto urinario Anomalies fonctionnelles de l'appareil urinaire Anomalías funcionales del riñón y del tracto urinario Functional anomalies of the kidney and the urinary tract funktionelle Anomalien der Nieren und des Harntraktes hrdo:sgn_id_38040 Doença renal/nefropatia Enfermedad renal/nefropatía Malattia renale/nefropatia Nierenkrankheit/Nephropathie Néphropathie Renal disease/nephropathy hrdo:sgn_id_38080 Defecto glomerular renal/glomerulopatía Deficiência glomerular renal/glomerulopatia Difetto dei glomeruli renali/glomerulopatia Néphropathie glomérulaire/glomérulopathie Renal glomerular defect/glomerulopathy glomeruläre Nierenkrankheit/Glomerulopathie hrdo:sgn_id_38120 Defecto tubular renal/tubulopatía Deficiência tubular renal/tubulopatia Difetto dei tubuli renali/tubulopatia Néphropathie tubulaire/tubulopathie Renal tubular defect/tubulopathy tubulärer Nierenschaden/Tubulopathie hrdo:sgn_id_38160 Interstitial nephropathy Nefropatia intersticial Nefropatia interstiziale Nefropatía intersticial Néphropathie interstitielle interstitielle Nephropathie hrdo:sgn_id_3820 Facial cleft Fenda facial Fente faciale Gesichtsspalte Hendidura facial Schisi facciale hrdo:sgn_id_38200 Fallo renal Insufficienza renale Insuffisance rénale Insuficiência renal Nierenversagen Renal failure hrdo:sgn_id_38240 Calcificaciones renales/del riñón Calcifications rénales Calcificazioni renali/del rene Calcificações renais/do rim/nefrocalcinose Nephrokalzinose/Nierenverkalkung Renal/kidney calcifications/nephrocalcinosis hrdo:sgn_id_38280 Hipertensión renovascular Hipertensão renovascular Hypertension réno-vasculaire Ipertensione renovascolare Renovascular hypertension renovaskuläre Hypertension hrdo:sgn_id_38320 Harn-/Nierensteine/Nephrolithiasis/Nephrokalzinose/Nierenkolik Lithiases urinaires/rénales/calculs rénaux/néphrocalcinose/coliques néphrétiques Litiase urinária/renal / cálculo renal / cólica nefrítica Litiasi renale/urinaria/calcoli renali/nefrocalcinosi/colica nefritica Litiasis renal/urinaria/piedras en el riñón/nefrocalcinosis/cólico nefrítico Urinary/renal lithiasis/kidney stones/nephritic colic hrdo:sgn_id_38360 Nephrotic syndrome Nephrotisches Syndrom Sindrome nefrosica Syndrome néphrotique Síndrome nefrótico Síndrome nefrótico hrdo:sgn_id_3840 Fenda da linha média da face Fente faciale centrale Hendidura de la parte media de la cara Midline facial cleft Schisi della linea mediana facciale mediane Gesichtsspalte hrdo:sgn_id_38400 Proteinuria Proteinuria Proteinuria Proteinurie Proteinúria Protéinurie hrdo:sgn_id_38440 Ematuria/microematuria Hematuria/microhematuria Hematuria/microhematuria Hematúria/microhematúria Hämaturie/Mikrohämaturie Hématurie/microhématurie hrdo:sgn_id_38480 Aseptic leukocyturia Leucocituria asettica Leucocituria aséptica Leucocitúria asséptica Leucocyturie aseptique aseptische Leukozyturie hrdo:sgn_id_38520 Infecciones urinarias recurrentes Infections urinaires récurrentes Infezioni urinarie ricorrenti Infeções urinárias recorrentes Recurrent urinary infections wiederholte Harnwegsinfektionen hrdo:sgn_id_38560 Infiammazione della prostata/prostatite Inflamación prostática/prostatitis Inflamação prostática/prostatite Inflammation de la prostate/prostatite Prostatic inflammation/prostatitis Prostatitis/Entzündung der Vorsteherdrüse hrdo:sgn_id_3860 Fenda da linha lateral da face Fente faciale latérale Hendidura de la parte lateral de la cara Lateral facial cleft Schisi facciale laterale laterale Gesichtsspalte hrdo:sgn_id_38600 Bladder inflammation/cystitis/painful/irritable bladder Blasenentzündung/Zystitis/schmerzende/irritierte Blase Infiammazione della vescica/cistite/vescica dolorante/irritabile Inflamación de vejiga/cistitis/vejiga irritable/dolorosa Inflamação da bexiga/cistite / bexiga dolorosa/irritável Inflammation de la vessie/cystite/vessie irritable hrdo:sgn_id_38640 Bladder/vesical lesions/glomerulations/petechiae Blasenläsionen/-glomerulationen/-petechien Lesioni vescicali/della vescica/glomerulazioni/petecchie Lesões da bexiga/vesicais/glomerulações/petéquia Lésions vésicales/glomérulations/pétéchies Petequia/glomerulaciones/lesiones de vesícula/de vejiga hrdo:sgn_id_38680 Polaquiuria/poliuria/disuria/anuria/retención aguda de urina/oliguria Polaquiúria/poliúria/disúria/anúria/retenção urinária aguda/oligúria Pollachiuria/poliuria/disuria/anuria/ritenzione urinaria acuta/oliguria Pollakisurie/Polyurie/Dysurie/Anurie/akute Harnabflussstörungen/Oligurie Pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria Pollakiurie/polyurie/dysurie/anurie/rétention aiguë d'urine/oligurie hrdo:sgn_id_38720 Abnormal colour of the urine/cholic/dark urines Color anormal de la orina/orina oscura Coloration anormale des urines/urines brunes/foncées Colorazione anomala delle urine/colica/urine scure Coloração anormal da urina/colúria/urina escura Ungewöhnliche Färbung des Urins/dunkler Urin hrdo:sgn_id_38760 Abnormal odour of the urine Anomaler Geruch des Urins Odeur anormale des urines Odor anormal da urina Odore anomalo delle urine Olor anormal de la orina hrdo:sgn_id_38800 Cistalgia com urina clara Cistalgia con orina clara Cistalgia con urine chiare Cystalgia with clear urine Cystalgie à urine claire Zystalgie mit klarem Urin hrdo:sgn_id_39000 Anomalias estruturais do sistema genital Anomalie strutturali del sistema genitale Anomalies de structure de l'appareil génital Anomalías estructurales del aparato genital Structural anomalies of the genital system Strukturanomalie des Genitalsystems hrdo:sgn_id_39020 Ambiguous genitalia Ambiguïté sexuelle Genitais ambíguos Genitali ambigui Genitalia ambigua intersexuelles Genitale hrdo:sgn_id_39040 Ermafroditismo vero Hermafrodismo verdadeiro Hermafroditismo verdadero Hermaphrodisme vrai True hermaphrodism echter Hermaphroditismus hrdo:sgn_id_39060 Male pseudohermaphrodism/lack of virilisation Pseudoermafroditismo maschile/mancata virilizzazione Pseudohermafrodismo masculino/ausência de virilização Pseudohermafroditismo masculino/falta de virilización Pseudohermaphrodisme masculin/absence de masculinisation männlicher Pseudohermaphroditismus/fehlende Virilisierung hrdo:sgn_id_39080 Female pseudohermaphrodism/virilisation/clitoridomegaly Pseudoermafroditismo fem./virilizzazione/clitoridomegalia Pseudohermafrodismo feminino/virilização/clitoriomegalia Pseudohermafroditismo femenino/virilización/clitoridomegalia Pseudohermaphrodisme féminin/virilisation/clitoromégalie weiblicher Pseudohermaphroditismus/Virilisierung hrdo:sgn_id_39100 Digenesia gonadal mista Disgenesia gonadal mezclada Disgenesia gonadica mista Dysgénésie gonadique mixte Mixed gonadal dysgenesis gemischte Gonadendysgenesie hrdo:sgn_id_39120 Clitoris/labia majora/labia minora/female external genitalia hypoplasia Hipoplasia de órganos genitales externos fem./labios mayores/menores/clitoris Hipoplasia do clitóris/grandes/pequenos lábios/genitais externos femininos Hypoplasie der Klitoris/Labia major/Labia minor/weibl. externen Genitalen Hypoplasie du clitoris/grandes lèvres/petites lèvres/organes génitaux externes Ipoplasia clitoride/grandi labbra/piccole labbra/genitali esterni femminili hrdo:sgn_id_39140 Anomalias uterinas/do útero/trompas de Falópio Anomalias vaginales/del útero/uterinas Anomalie vaginali/uterine/dell'utero Anomalies de l'utérus/des trompes Uterine/uterus/Fallopian tubes anomalies vaginale/uterine Anomalie hrdo:sgn_id_39160 Anomalias de la vagina/atresia/hidrometrocolpos/imperforación de himen Anomalias/atresia da vagina / hidrometrocolpos/hímen imperfurado Anomalie/atresia della vagina/idrometrocolpo/imperforazione dell'imene Anomalies du vagin/hydrométrocolpos/imperforation de l'hymen/atrésie vaginale Vagina anomalies/atresia/hydrometrocolpos/hymen imperforation vaginale Anomalien/Atresie/Hydrometrokolpos/Hymen imperforatus hrdo:sgn_id_39180 Abnormal/polycystic ovaries Anomalie des ovaires/ovaires polykystiques Ovaio policistico/anomalo Ovarios anormales/poliquísticos Ovários poliquísticos/anormais anomale/polyzystische Ovarien hrdo:sgn_id_39200 Seio urogenital Seno urogenitale Sinus urogenital Sinus urogénital Urogenital sinus Urogenitalsinus hrdo:sgn_id_39220 Anomalias do pénis Anomalie del pene Anomalies du pénis Anomalías en el pene Penis anomalies Penisanomalien hrdo:sgn_id_39240 Micropene/pene pequeño/agenesia Micropene/pene piccolo/agenesia Micropenis/small penis/agenesis Micropénis/pénis pequeno/agenesia Micropénis/verge petite/agénésie du pénis Mikropenis/kleiner Penis/Penisagenesie hrdo:sgn_id_39260 Macropene/megapene/pene grande Macropene/megapene/pene grande Macropenis/megapenis/large penis Macropénis/megapénis/penis grande Macropénis/verge grande/mégapénis Makropenis/großer Penis/langer Penis hrdo:sgn_id_39280 Hipospadias/epispadias/incurvación del pene Hipospádias/epispádias/pénis encurvado Hypospadias/epispadias/bent penis Hypospadias/épispadias/verge coudée Hypospadie/Epispadie Ipospadia/epispadia/pene curvo hrdo:sgn_id_39300 Corpus cavernosum sclerosis Corpus cavernosum sclerosis Esclerose dos corpos cavernosos Esclerosis del cuerpo cavernoso Sclerosi del corpo cavernoso Sclérose des corps caverneux hrdo:sgn_id_39320 Fimose/aderências prepuciais/parafimose Fimosi/adesioni prepuziali/parafimosi Fimosis/adherencia prepucial/parafimosis Phimose/Präputialstenose/Paraphimose Phimosis/adhérences préputiales/paraphimosis Phimosis/preputial adhesions/paraphimosis hrdo:sgn_id_39340 Doppelfehlbildung des Penis/Diphallie/penoskrotale Transposition Duplicación de pene/difalia/transposición penoescrotal Duplicazione del pene/difallia/trasposizione peno-scrotale Duplicação do pénis/difalia/transposição penoescrotal Penis duplication/diphallia/penoscrotal transposition Pénis double/diphallia/duplication du pénis/transposition péno-scrotale hrdo:sgn_id_39360 Anomalias dos testículos Anomalie dei testicoli Anomalies des testicules/testiculaires Anomalías de los testículos/testiculares Testis anomalies Testisanomalie hrdo:sgn_id_39380 Ectopie testiculaire/cryptorchidie/non-fixation du testicule Hodenektopie/Kryptorchismus/gestörter Hodenabstieg Testicoli ritenuti/ectopici/criptorchidismo/testicoli mobili Testículos ectópicos/no descendidos/criptorquidia Testículos não descidos/ectópicos / criptorquidia / testículos não fixados Undescended/ectopic testes/cryptorchidia/unfixed testes hrdo:sgn_id_39400 Absence/hypoplasie/atrophie des testicules/monorchidie/anorchidie Small/atrophic/hypoplastic testes/monorchism/microorchidism/anorchia Testicoli piccoli/atrofici/ipoplasici/monorchidia/macrorchidia Testículos pequenos/atróficos/hipoplásicos/monorquismo/microorquidismo/anorquia Testículos pequeños/atróficos/hipoplásicos/monorquidia/macroorquidia kleine/atrophische/fehlende Hoden/Monoorchidie/Makroorchidie hrdo:sgn_id_39420 Macroorchidie/testicules de grande taille Macroorchidism/macrotestes Macroorchidismo/macrotesticoli Macroorquidia/macrotestículos Macroorquidismo/macrotestículos Makroorchidie/große Hoden hrdo:sgn_id_39440 Funicular/testicular torsion/absent gubernaculum testis Hodentorsion/fehlendes Gubernaculum testis Torsion du cordon spermatique/testicule/gubernaculum testis absent Torsione testicolare/funicolare/gubernaculum testis assente Torsión testicular/funicular/gubernaculum ausente Torção funicular/testicular/testículo gubernaculum ausente hrdo:sgn_id_39460 Anomalias do escroto Anomalie dello scroto Anomalies du scrotum/scrotales Anomalías del escroto/escrotales Scrotum abnormalities Skrotumanomalie hrdo:sgn_id_39480 Escroto hipolásico/hemiescroto/pregas escrotais Escroto hipoplásico/hemiescroto/crestas en el escroto Hypoplastic scrotum/hemiscrotum/scrotal ridges Scroto ipoplasico/emiscroto/pliche scrotali Scrotum hypoplasique/hémiscrotum/bourrelets labio-scrotaux Skrotumhypoplasie/Hemiskrotum hrdo:sgn_id_39500 Horizontal folds on scrotum Pieghe orizzontali sullo scroto Pliegues horizontales en el escroto Pregas horizontais do escroto Scrotum avec plis horizontaux horizontale Falten auf dem Skrotum hrdo:sgn_id_39520 Escroto em xaile Escroto en chal Schalskrotum Scroto a scialle Scrotum en châle Shawl scrotum hrdo:sgn_id_39540 Bifid scrotum Escroto bífido Escroto bífido Scroto bifido Scrotum bifide zweigeteiltes/gespaltenes Skrotum hrdo:sgn_id_39560 Hidrocele vaginal/hematocele/piocele/linfocele/varicocele Hidrocelo vaginal/hematocelo/piocelo/linfocelo/varicocelo Hydrocèle/de la vaginale/hématocèle/pyocèle/lymphocèle/varicocèle Idrocele/ematocele/piocele/linfocele/varicocele vaginale Vaginal hydrocele/hematocele/pyocele/lymphocele/varicocele vaginale Hydrozele/Hämatozele/Pyozele/Lymphozele/Varikozele hrdo:sgn_id_39580 Espematocelo / quisto do epididimio/funicular/espermático/vaginal/albuginal Espermatocele/quiste albugineo/vaginal/espermático/funicular/epididimal Spermatocele/cisti epididimale/funicolare/spermatica/vaginale/albuginea Spermatocele/epididymal/funicular/spermatic/vaginal/albugineal cyst Spermatocèle/kyste de l'épididyme/du cordon spermatique/de la vaginale/albuginée Spermatozele/Epidermoidzyste/vaginale Zyste/Tunika albuginea-Zyste hrdo:sgn_id_39600 Atrofia /hipotrofia de próstata Atrofia/hipotrofia da próstata Atrofia/ipotrofia della prostata Atrophie/hypotrophie de la prostate Prostatahypertrophie/-atrophie Prostate atrophy/hypotrophy hrdo:sgn_id_39620 Anomalia genitais int. masc./agenesia/ectopia/duplicação do ducto deferente Anomalia genitali interni maschili/agenesia/ectopia/duplicazione dotti deferenti Anomalie des organes génitaux internes masculins/ectopie/duplicité déférentielle Anomalien der inneren männl. Genitalien/Samenleiteragenesie/-ektopie/duplikation Anomalía órganos genit.int.masc./duplicación/agenesia/ectopia conduc. deferentes Male internal genitalia anomaly/deferent ducts agenesis/ectopy/duplication hrdo:sgn_id_4000 Anomalias dos olhos e da visão Anomalie degli occhi e della vista Anomalies des yeux et de la vision Anomalies of eyes and vision Anomalías en los ojos y la visión Augen- und Sehanomalien hrdo:sgn_id_40000 Anomalias funcionais do sistema genital Anomalie funzionali del sistema genitale Anomalies fonctionnelles de l'appareil génital Anomalías funcionales del aparato genital Functional anomalies of the genital system funktionelle Anomalien des Genitalsystems hrdo:sgn_id_40090 Infiammazione dei testicoli/orchite Inflamación de los testículos/orquitis Inflamação testicular/orquidite Inflammation des testicules/orchite Testes inflammation/orchitis Testisentzündung/Orchitis hrdo:sgn_id_40180 Rottura uterina Rotura uterina Ruptura uterina Rupture utérine Uterine rupture Uterusruptur hrdo:sgn_id_4020 Anoftalmia/microftalmia Anoftalmo/anoftalmia/microftalmo/microftalmia Anoftalmo/anoftalmía/microftalmo/microftalmia Anophtalmie/microphtalmie Anophthalmie/Mikrophthalmie Anophthalmos/anophthalmia/microphthalmos/microphthalmia hrdo:sgn_id_40270 Genital prolapse Genitalprolaps Prolapso genital Prolapso genital Prolapsus génital Prolasso genitale hrdo:sgn_id_40360 Metrorragia/menorragia/cicli emorragici/iper-/poli-/spanio-/dismenorrea Metrorragia/menorragia/ciclos hemorrágicos/hiper/poli/espanio/dismenorrea Metrorragia/menorragia/ciclos hemorrágicos/hiper/poli/espanio/dismenorreia Metrorrhagia/menorrhagia/hemorrhagic cycles/hyper/poly/spanio/dysmenorrhea Metrorrhagie/Menorrhagie/Hyper-/Poly/Spanio-/Dysmenorrhö/Zyklusvariationen Métrorragie/ménorragie/règles hémorragiques/hyper/poly/spanio/dysménorrhée hrdo:sgn_id_4040 Glaucoma Glaucoma Glaucoma Glaucoma Glaucome Glaukom hrdo:sgn_id_40450 Goteo vaginal Perdite ematiche intermestruali vaginali Pertes vaginales Spotting vaginal Vaginal spotting vaginale Blutungen hrdo:sgn_id_40540 Dispareunia/dolor coital/sequedad vaginal Dispareunia/dolore coitale/secchezza vaginale Dispareunia/dor coital/secura vaginal Dyspareunia/coital pain/vaginal dryness Dyspareunie/douleurs coïtales/sécheresse vaginale Dyspareunie/schmerzhafter Geschlechtsverkehr/trockene Vagina hrdo:sgn_id_4060 Buftalmia Buftalmo Buftalmos Buphtalmie Buphthalmie Buphthalmos hrdo:sgn_id_40630 Esterilidad/hipofertilidad Esterilidade/hipofertilidade Sterility/hypofertility Sterilità/ipofertilità Sterilität/Subfertilität Stérilité/hypofertilité hrdo:sgn_id_40720 Azoospermia/oligospermia/astenospermia Azoospermia/oligospermia/astenospermia Azoospermia/oligospermia/astenospermia Azoospermia/oligospermia/asthenospermia Azoospermie/Oligospermie/Asthenospermie Azoospermie/oligospermie/asthénospermie hrdo:sgn_id_4080 Ciclopia Ciclopia Ciclopía Cyclopia Cyclopie Zyklopie hrdo:sgn_id_40810 Impotence/painful erection/priapism/erection troubles Impotencia/erección con dolor/priapismo/problemas de erección Impotenz/Errektionsstörungen/schmerzvolle Errektion/Priapismus Impotenza/erezione dolorosa/priapismo/disturbi dell'erezione Impotência/ereção dolorosa/priapismo/problemas na ereção Impuissance/érection douloureuse/priapisme/troubles de l'érection hrdo:sgn_id_40900 Induración de pene Induração do pénis Penile induration Penile induration Penile induration Penile induration hrdo:sgn_id_4100 Fragilidad del globo ocular Fragilidade do globo ocular Fragility of the eye globe Fragilità del globo oculare Fragilität des Augapfels Fragilité du globe oculaire hrdo:sgn_id_41000 Anomalias das glândulas endócrinas Anomalie delle ghiandole endocrine Anomalie des glandes endocrines Anomalies of the endocrine glands Anomalías de las glándulas endocrinas Störungen der endokrinen Drüsen hrdo:sgn_id_41030 Anomalias do eixo hipotalâmico-hipofisário / anomalias do hipotálamo/pituitária Anomalie de l'axe hypothalamo-hypophysaire/de l'hypothalamus/de l'hypophyse Anomalie dell'asse ipotalamo-ipofisario/anomalie pituitarie/dell'ipotalamo Anomalías del eje hipotalamo-hipofisario/anomalías del hipotálamo/pituitaria Hypothalamic-hypophyseal axis anomalies/hypothalamus/pituitary anomalies Hypothalamus-Hypophysen-Achse-Anomalien hrdo:sgn_id_41060 Anomalias funcionais do eixo hipotalâmico-hipofisário/hipopituitarismo Anomalie fonctionnelle de l'hypothalamus-hypophyse/hypopituitarisme Anomalie funzionali dell'asse ipotalamo-ipofisario/ipopituitarismo Anomalías funcionales del eje hipotalamo-hipofisario/hipopituitarismo Hypothalamic-hypophyseal axis functional anomalies/hypopituitarism funktionelle Anomalien der Hypothalamus-Hypophysen-Achse hrdo:sgn_id_41090 Diabete insipido Diabetes insipidus Diabetes insipidus Diabetes insipidus Diabetes insípida Diabète insipide hrdo:sgn_id_41120 Anomalias da tiróide Anomalie de la thyroïde Anomalie della tiroide Anomalie der Schilddrüse Anomalías tiroideas Thyroid anomalies hrdo:sgn_id_41150 Bocio Bócio Goiter Goitre Gozzo Kropf hrdo:sgn_id_41180 Agenesia/ipoplasia/disgenesia/ectopia della tiroide Ectopia/agenesia/disgenesia/hipoplasia da tiróide Ectopic/agenesis/dysgenesis/hypoplastic thyroid Ectopie de la thyroïde/agénésie/hypoplasie/dysgénésie de la thyroïde Ektopie/Agenesie/Hypoplasie der Schilddrüse Tiroides ectópico/hipoplásico/agenesia/disgenesia de tiroides hrdo:sgn_id_4120 Anomalias da pupila/midríase/miose/pupila tónica Anomalie dele pupille/midriasi/miosi/pupilla tonica Anomalies des pupilles/pupille dilatée/mydriase/myosis/pupille tonique Anomalías de la pupila/midriasis/miosis/pupila tónica Pupillary anomalies/mydriasis/myosis/tonic pupil Pupillenanomalien/Mydriasis/Miosis/tonische Pupille hrdo:sgn_id_41210 Hipotiroidismo Hipotiroidismo Hypothyreose/Schilddrüsenunterfunktion Hypothyroidy Hypothyroïdie Ipotiroidismo hrdo:sgn_id_41240 Hipertiroidismo Hipertiroidismo Hyperthyroidy Hyperthyroïdie Ipertiroidismo Schilddrüsenüberfunktion hrdo:sgn_id_41270 Thyreoiditis Thyroiditis Thyroïdite Tiroidite Tiroidite Tiroiditis hrdo:sgn_id_41300 Anomalias da paratiróide Anomalie de la parathyroïde Anomalie delle paratiroidi Anomalías paratiroideas Nebenschilddrüsen-Anomalien Parathyroids anomalies hrdo:sgn_id_41330 Hiperparatiroidismo Hiperparatiroidismo Hyperparathyroidismus/Überfunktion der Nebenschilddrüse Hyperparathyroidy Hyperparathyroïdie Iperparatiroidismo hrdo:sgn_id_41360 Hipoparatiroidismo Hipoparatiroidismo Hypoparathyreose/Unterfunktion der Nebenschilddrüse Hypoparathyroidy Hypoparathyroïdie Ipoparatiroidismo hrdo:sgn_id_41390 Adrenal glands anomalies Anomalias das suprarrenais Anomalie delle ghiandole surrenali Anomalie der Nebennieren Anomalie des glandes surrénales Anomalías de las glándulas adrenales hrdo:sgn_id_4140 Anomalia da câmera anterior Anomalia della camera anteriore Anomalie de la chambre antérieure de l'œil Anomalie der vorderen Augenkammer Anomalía de la cámara anterior Anterior chamber anomaly hrdo:sgn_id_41420 Cortico-adrenal hypoplasia/insufficiency Hipoplasia/insuficiência cortical suprarrenal Hypoplasie surrénale/insuffisance corticosurrénalienne Hypoplasie/Unterfunktion der Nebennieren Insuficiencia/hipoplasia cortico-adrenal Ipoplasia/insufficienza cortico-surrenale hrdo:sgn_id_41450 Cortico-adrenal hyperplasia/hypersecretion Hiperplasia/hipersecreção cortical suprarrenal Hipersecreción/Hiperplasia cortico-adrenal Hyperplasie/hypersécrétion surrénale Hyperplasie/Überfunktion der Nebennieren Iperplasia/ipersecrezione cortico-surrenale hrdo:sgn_id_41480 Hiperaldosteronismo Hiperaldosteronismo Hyperaldosteronism Hyperaldosteronismus Hyperaldostéronisme Iperaldosteronismo hrdo:sgn_id_41510 Hipoaldosteronismo Hipoaldosteronismo Hypoaldosteronism Hypoaldosteronismus Hypoaldostéronisme Ipoaldosteronismo hrdo:sgn_id_41540 Anomalia degli ormoni pancreatici Anomalias das hormonas pancreáticas Anomalie der Pankreashormone Anomalie des hormones pancréatiques Anomaly of pancreatic hormones Anomalía de las hormonas pancreáticas hrdo:sgn_id_41570 Diabete mellito Diabetes mellitus Diabetes mellitus Diabetes mellitus Diabetes mellitus Diabète sucré hrdo:sgn_id_4160 Aniridia/hipoplasia da íris Aniridia/hipoplasia del iris Aniridia/ipoplasia dell'iride Aniridia/iris hypoplasia Aniridie/Irishypoplasie Aniridie/hypoplasie de l'iris hrdo:sgn_id_41600 Diabete di tipo 1/insulino-dipendente Diabetes insulino-dependente/tipo 1 Diabetes tipo 1/insulino dependiente Diabète insulinodépendant/de type 1 Insulin-dependent/type 1 diabetes insulinpflichtiger Diabetes Typ 1 hrdo:sgn_id_41630 Diabete di tipo 2/non insulino-dipendente Diabetes insulino-independente/tipo 2 Diabetes tipo 2/insulino independiente Diabète non insulinodépendant/de type 2 Insulin-independent/type 2 diabetes insulinpflichtiger Diabetes Typ 2 hrdo:sgn_id_41660 Diabète insulinorésistant Insulin resistance Insulinresistenz Resistencia a la insulina Resistenza all'insulina Resistência à insulina hrdo:sgn_id_41690 Hiperinsulinismo/hiperinsulinemia Hiperinsulinismo/hiperinsulinemia Hyperinsulinism/hyperinsulinemia Hyperinsulinisme/hyperinsulinémie Hyperinsulinismus/Hyperinsulinämie Iperinsulinismo/iperinsulinemia hrdo:sgn_id_41720 Hipoglicemia Hipoglucemia Hypoglycemia Hypoglycémie Hypoglykämie Ipoglicemia hrdo:sgn_id_41750 Precocious puberty Puberdade precoce Pubertad precoz Pubertà precoce Puberté précoce vorzeitige Pubertät hrdo:sgn_id_41780 Late puberty/hypogonadism/hypogenitalism Puberdade tardia/hipogonadismo/hipogenitalismo Pubertad tardía/hipogonadismo/hipogenitalismo Pubertà tardiva/ipogonadismo/ipogenitalismo Retard pubertaire/hypogonadisme/hypogénitalisme verzögerte Pubertät/Hypogonadismus hrdo:sgn_id_4180 Coloboma da íris Coloboma del iris Coloboma dell'iride Coloboma of iris Colobome de l'iris Iriskolobom hrdo:sgn_id_41810 Menopausa precoce/amenorrea secondaria Menopausa precoce/amenorreia Menopausia precoz/amenorrea secundaria Ménopause précoce/aménorrhée secondaire Precocious menopause/secondary amenorrhea vorzeitige Menopause/sekundäre Amenorrhoe hrdo:sgn_id_41840 Amenorrea primaria Amenorrea primaria Amenorreia primária Aménorrhée primaire Primary amenorrhea primäre Amenorrhoe hrdo:sgn_id_41870 Galactorrea Galactorreia Galactorrhea Galactorrhée Galaktorrhö Galattorrea hrdo:sgn_id_4200 Eterocromia/colorazione mista dell'iride Heterochromia/mixed colouring of iris Heterochromie der Iris Heterocromia/íris de cor mista Heterocromía/mezcla de colores del iris Hétérochromie de l'iris hrdo:sgn_id_42000 Anomalias estruturais do sistema nervoso Anomalie de structure du système nerveux/du cerveau Anomalie strutturali del sistema nervoso Anomalías estructurales del sistema nervioso/del cerebro Structural anomalies of the nervous system Strukturanomalie des Nervensystems/Gehirns hrdo:sgn_id_42030 Defecto del tubo neural Defeito do tubo neural Difetti del tubo neurale Dysraphie du système nerveux central Neural tube defect Neuralrohrdefekte hrdo:sgn_id_42060 Anencefalia/acrania Anencefalia/acrania Anencefalia/acrania Anencephaly/acrania Anencéphalie/acranie Anenzephalie/Akranie hrdo:sgn_id_42090 Encefalocele/esencefalia Encefalocele/exencefalia Encefalocelo/exencefalia Encephalocele/exencephaly Encéphalocèle/exencéphalie Enzephalozele/Exenzephalie hrdo:sgn_id_42120 Meningocele Meningocele Meningocele Meningocelo Meningozele Méningocèle hrdo:sgn_id_42150 Espina bífida Espinha bífida Spina bifida Spina bifida Spina bifida Spina bifida/rachischisis/fente vertébrale hrdo:sgn_id_42180 Mielomeningocele Mielomeningocele Mielomeningocelo Myelomeningocele Myelomeningozele Myéloméningocèle hrdo:sgn_id_4220 Brushfield spots Brushfield-Flecken Macchie di Brushfield Manchas de Brushfield Manchas de Brushfield Taches de Brushfield hrdo:sgn_id_42210 Diastematomielia Diastematomielia Diastematomielia Diastematomyelia Diastematomyelie/Diastomyelie Diastématomyélie hrdo:sgn_id_42240 Diplomielia/amielia/espinhal medula bífida Diplomielia/amielia/midollo spinale bifido Diplomielia/amielia/médula espinal bífida Diplomyelia/amyelia/bifid spinal cord Diplomyelie/Amyelie/gespaltenes Rückenmark Diplomyélie/amyélie/moelle épinière bifide hrdo:sgn_id_42270 Siringomelia Siringomielia Siringomielia Syringomelia Syringomelie Syringomyélie hrdo:sgn_id_42300 Dural ectasia/ Duralektasie Ectasia dural Ectasia dural Ectasia durale Ectasie durale/cul de sac dural large hrdo:sgn_id_42330 Holoprosencefalia/arrinencefalia/ventrículo lateral único Holoprosencefalia/arrinencefalia/ventrículo lateral único Holoprosencephaly/arhinencephaly/unique lateral ventricle Holoprosencéphalie/arhinencéphalie/ventricule cérébral unique Holoprosenzephalie/Arrhinenzephalie/einzelner Seitenventrikel Oloprosencefalia/arinencefalia/ventricolo laterale unico hrdo:sgn_id_42360 Hidranencefalia Hidranencefalia Hydranencephaly Hydranencéphalie Hydranenzephalie Idranencefalia hrdo:sgn_id_42390 Dilatation ventriculaire sans hydrocéphalie Dilated cerebral ventricles without hydrocephaly Erweiterung der zerebralen Ventrikel ohne Hydrozephalie Ventricoli cerebrali dilatati senza idrocefalo Ventrículos cerebrais dilatados sem hidrocefalia Ventrículos cerebrales dilatados sin hidrocefalia hrdo:sgn_id_4240 Albinisme de l'iris/albinisme oculaire Albinismo da íris/albinismo ocular Albinismo del iris/albinismo ocular Albinismo dell'iride/albinismo oculare Iris albinism/ocular albinism Okulärer Albinismus hrdo:sgn_id_42420 Atrofia cortical sem hidrocefalia/hemiatrofia cerebral/atrofia subcortical Atrofia cortical sin hidrocefalia/hemiatrofia cerebral/atrofia subcortical Atrofia corticale senza idrocefalo/emiatrofia cerebrale/atrofia sottocorticale Atrophie corticale/sous-corticale sans hydrocéphalie/hémiatrophie cérébrale Cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy kortikale Atrophie ohne Hydrozephalie/zerebrale Hemiatrophie/subkortik. Atrophie hrdo:sgn_id_42450 Hidrocefalia Hidrocefalia Hydrocephaly Hydrocéphalie Hydrozephalus Idrocefalo hrdo:sgn_id_42480 Communicating hydrocephaly Hidrocefalia comunicante Hidrocefalia comunicante Hydrocéphalie communicante Idrocefalo comunicante kommunizierender Hydrozephalus hrdo:sgn_id_42510 Aquäduktstenose Estenose do aqueduto de Sylvius Estenosis del acueducto de Silvio Stenosi dell'acquedotto di Silvio Stenosis of aqueduc of Sylvius Sténose de l'aqueduc de Sylvius hrdo:sgn_id_42540 Anomalia de Dandy-Walker Anomalia di Dandy-Walker Anomalía de Dandy-Walker Dandy-Walker anomaly Dandy-Walker-Malformation Malformation de Dandy-Walker hrdo:sgn_id_42570 Anomalia de Arnold-Chiari Anomalia di Arnold-Chiari Anomalía de Arnold-Chiari Arnold-Chiari anomaly Arnold-Chiari-Fehlbildung Malformation d'Arnold-Chiari hrdo:sgn_id_4260 Iris melanosis/ocular melanosis Melanose da íris/melanose ocular Melanose der Iris/okuläre Melanose Melanosi dell'iride/melanosi oculare Melanosis del iris/melanosis ocular Mélanose de l'iris/mélanose oculaire hrdo:sgn_id_42600 Agiria/micro-pachi-macrogiria/lissencefalia/difetto girazione/migraz. neuronale Agiria/micro/paqui/macrogiria/lisencefalia/rotación/defecto migración neuronal Agiria/micro/paqui/macrogiria/lissencefalia/defeito da migração neuronal Agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect Agyrie/Mikro-/Pachy-/Makrogyrie/Lissenzephalie/neuronaler Migrationsdefekt Micro/pachy/macro/agyrie/lissencéphalie/anomalie de gyration/migration neuronale hrdo:sgn_id_42630 Agenesia total/parcial del cuerpo calloso/septo pelúcido Agenesia total/parcial do corpo caloso/septo pelúcido Agensia parziale/totale del corpo calloso/del setto pellucido Agénésie du corps calleux totale/partielle/agénésie du septum pellucidum Corpus callosum/septum pellucidum total/partial agenesis totale/partielle Agenesie des Corpus callosum/Septum pellucidum hrdo:sgn_id_42660 Anomalie des Thalamus/Hypothalamus Anomalie du thalamus/anomalie de l'hypothalamus Defecto talámico/hipotalámico Deficiência talâmica/hipotalâmica Difetto ipotalamico/talamico Thalamic/hypothalamic defect hrdo:sgn_id_42690 Anomalias do cérebro médio/tronco cerebral/ponte/medula Anomalie del mesencefalo/del tronco cerebrale/del ponte/del midollo Anomalie du tronc cérébral/de la protubérance/du bulbe rachidien Anomalien des Mittelhirns/Stammhirn/Hirnstammbrücke/Medulla Anomalías de cerebro medio/tronco del encéfalo/puente troncoencefálico/médula Midbrain/brainstem/pons/medulla anomalies hrdo:sgn_id_42720 Porencefalia Porencefalia Porencefalia Porencephaly Porencéphalie Porenzephalie hrdo:sgn_id_42750 Megalencefalia Megalencefalia Megalencefalia Megalencephaly Megalenzephalie Mégalencéphalie hrdo:sgn_id_42780 Esquizencefalia Esquizencefalia Schizencefalia Schizencephaly Schizencéphalie Schizenzephalie hrdo:sgn_id_4280 Iridocele Iridocele Iridocele Iridocelo Iridocèle Iridozele hrdo:sgn_id_42810 Anomalia/agenesia/hipoplasia do cerebelo/vermis cerebelar Anomalie/Agenesie/Hypoplasie des Kleinhirns/Kleinhirnwurms Anomalies/agénésie/hypoplasie du cervelet/du vermis cérébelleux Anomalía/agenesia/hipoplasia de cerebelo/vermis cerebeloso Cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia Ipoplasia/agenesia/anomalia del verme cerebellare/del cervelletto hrdo:sgn_id_42840 Displasia septo-óptica Displasia septo-ótica Displasia setto-ottica Dysplasie septo-optique Septo-optic dysplasia septo-optische Dysplasie hrdo:sgn_id_42870 Agénésie des noyaux des nerfs crâniens Anomalias dos nervos cranianos Anomalie dei nervi cranici Anomalie der Hirnnerven Anomalías de los nervios craneales Cranial nerve anomalies hrdo:sgn_id_42900 Anomalias vasculares cerebrais Anomalie der Hirngefäße Anomalie vascolari cerebrali Anomalies vasculaires cérébrales Anomalías vasculares cerebrales Cerebral vascular anomalies hrdo:sgn_id_42930 Calcificaciones cerebrales/intracraneales Calcifications intracrâniennes/intracérébrales Calcificazioni cerebrali/intracraniche Calcificações intracranianas/cerebrais Intracranial/cerebral calcifications intrakraniale Verkalkungen hrdo:sgn_id_4300 Lisch nodules/iris hamartomas Lisch-Knötchen/Irisharmatome Nodules de Lisch/hamartomes iriens Noduli di Lisch Nódulos de Lisch/hamartomas da íris Nódulos de Lisch/hamartomas del iris hrdo:sgn_id_43000 Anomalias funcionais do sistema nervoso Anomalie funzionali del sistema nervoso Anomalies fonctionnelles du système nerveux Anomalías funcionales del sistema nervioso Functional anomalies of the nervous system funktionelle Anomalien des Nervensystems hrdo:sgn_id_43010 Disautonomia/anomalias do sistema nervoso autónomo Disautonomia/anomalie del sistema nervoso autonomo Disautonomía/Anomalías del sistema nervioso autónomo Dysautonomia/autonomous nervous sytem anomalies Dysautonomie/Anomalien des autonomen Nervensystems Dysautonomie/troubles du système nerveux autonome hrdo:sgn_id_43020 Cranial nerves palsy Lähmung der Kranialnerven Paralisi dei nervi cranici Paralysie des nerfs crâniens Parálisis de los nervios craneales Parésia dos nervos cranianos hrdo:sgn_id_43030 Neuralgia del trigémino Neuralgia do trigémeo Nevralgia del trigemino Névralgie du trijumeau Trigeminal neuralgia Trigeminusneuralgie hrdo:sgn_id_43040 Neurite otica retrobulbar Neurite ottica retrobulbare Neuritis óptica retrobulbar Névrite optique rétrobulbaire Retrobulbar optic neuritis retrobulbäre Optikusneuritis hrdo:sgn_id_43050 Central neuropathy Neuropathie centrale Neuropatia central Neuropatia centrale Neuropatía central zentrale Neuropathie hrdo:sgn_id_43060 Neuropathie périphérique Neuropatia periferica Neuropatia periférica Neuropatía periférica Peripheral neuropathy periphere Neuropathie hrdo:sgn_id_43070 Neurite/polineurite/multineurite Neurite/polineurite/multineurite Neuritis/Polyneuritis/Multineuritis Neuritis/polineuritis/multineuritis Neuritis/polyneuritis/multineuritis Névrite/polynévrite/multinévrite/inflammation des nerfs hrdo:sgn_id_43080 Constante sobresalto como respuesta al ruido Continui sobbalzi in risposta al rumore Incessant startle response to noise Startle incessante em resposta a ruído Sursauts inépuisables au bruit beständiger Schreckreflex als Reaktion auf Geräusche/Lärm hrdo:sgn_id_43090 Pseudobulbar signs/spasmodic laugh and cry Segni pseudobulbari/riso e pianto spasmodici Signes pseudobulbaires/rires et pleurs spasmodiques Signos pseudobulbares/risa y llanto espasmódicos Sinais pseudobulbares/choro e riso espasmódico pseudobulbäre Zeichen/zwanghaftes Lachen und Weinen hrdo:sgn_id_43100 Algie de la face/céphalées/migraines Dolor facial/cefalalgia/migraña Dolore facciale/cefalalgia/emicrania Dor facial/cefaleia/enxaqueca Facial pain/cephalalgia/migraine Gesichtsschmerzen/Kopfschmerzen/Migräne hrdo:sgn_id_43110 Accident vasculaire cérébral/AVC/accidents ischémiques transitoires Ischemia/ictus cerebrale transitoria/o Isquemia cerebral transitoria/apoplejía Isquemia cerebral transitória/AVC Transient cerebral ischemia/stroke transiente zerebrale Ischämie hrdo:sgn_id_43120 Cranial hypertension Hipertensión craneal Hipertensão craniana Hirndruckanstieg Hypertension intracrânienne Ipertensione cranica hrdo:sgn_id_43130 Anomalia da condução nervosa Anomalia della conduzione nervosa Anomalie der Nervenreizleitung Anormalidad en la conducción nerviosa Conduction nerveuse anormale Nerve conduction abnormality hrdo:sgn_id_43140 Anomalias do EEG Anomalie all'EEG Anomalías EEG EEG anomalies EEG anormal/électroencéphalogramme anormal EEG-Anomalien hrdo:sgn_id_43150 Encefalite Encefalite Encefalitis Encephalitis Encéphalite Enzephalitis hrdo:sgn_id_43160 Meningite/sindrome meningea Meningite/síndrome meníngeo Meningitis/meningeal syndrome Meningitis/meningeales Syndrom Meningitis/síndrome meníngeo Méningite/syndrome méningé hrdo:sgn_id_43170 Miastenia Miastenia Miastenia Myasthenia Myasthenie Myasthénie hrdo:sgn_id_43180 Disfunción del esfínter Disfunzione dello sfintere Disfunção do esfíncter Dysfunktion des Sphinkters Sphincter dysfunction Troubles sphinctériens hrdo:sgn_id_43190 Deficit/disturbo motorio Dificuldades/deficiências motoras Déficit/problema motor Motor deficit/trouble Troubles moteurs/déficits moteurs motorische Störungen hrdo:sgn_id_4320 Iridocorneal/iridolenticular synechiae Iridokorneale/Iridolentikulare Synechien Sinechie irido-corneali/irido-lenticolari Sinequia iridocorneal/iridolenticular Sinéquia iridocorneana/iridolenticular Synéchies irido-cornéennes/synéchies irido-cristalliniennes hrdo:sgn_id_43200 Abnormal gait Alteração da marcha Andar anormal Andatura anomala Gangstörung/auffälliger Gang Troubles de la marche/démarche anormale hrdo:sgn_id_43210 Atassia/incoordinazione/disturbo dell'equilibrio Ataxia/descoordenação/problemas de equilíbrio Ataxia/descoordinación/problemas de equilibrio Ataxia/incoordination/trouble of the equilibrium Ataxie /incoordination/troubles de l'équilibre Ataxie/Gleichgewichtsstörungen hrdo:sgn_id_43220 Bewegungsstörungen Desórdenes en el movimiento Disturbi del movimento Doença do movimento Mouvements anormaux Movement disorder hrdo:sgn_id_43230 Hipercinésia/discinésia Hiperquinesia/disquinesia Hyperkinesia/dyskinesia Hyperkinesie/Dyskinesie Hyperkinésie/dyskinésie Ipercinesia/discinesia hrdo:sgn_id_43240 Temblor Tremblements Tremor Tremor Tremor Tremore hrdo:sgn_id_43250 Chorea/Athetose/Choreoathetose Chorea/athetosis/choreoathetosis/choreic syndrome Chorée/athétose/choréo-athétose/syndrome choréïque Corea/atetosi/coreoatetosi/sindrome coreica Corea/atetosis/coreoatetosis/síndrome coreico Coreia/atetose/coreoatetose/síndrome coréico hrdo:sgn_id_43260 Distonia/torcicollo/crampo dello scrittore/blefarospasmi Distonia/torticolo/crãimbra do escrivão/blefarospasmo Distonía/tortícolis/calmabre de escritor/blefaroespasmos Dystonia/torticollis/writer's cramp/blepharospasms Dystonie/Tortikollis/Schreibkrampf Dystonie/torticolis/crampe de l'écrivain/blépharospasme hrdo:sgn_id_43270 Mioclonias/fasciculaciones Mioclonias/fasciculações Mioclono/fascicolazioni Myoclonie/fasciculations Myoclonus/fasciculations Myoklonie/Faszikulationen hrdo:sgn_id_43280 Tics/estereotipias Tics/stereotipie Tics/stereotype Bewegungen Tics/stereotypias Tics/stéréotypies Tiques/estereotipias hrdo:sgn_id_43290 Emiballismo/disturbi del movimento unilaterale Hemibalismo/doença do movimento unilateral Hemibalismo/trastornos del movimiento unilaterales Hemiballism/unilateral movement disorders Hemiballismus/unilaterale Bewegungsstörungen Hémiballisme/mouvements anormaux de l'hémicorps hrdo:sgn_id_43300 Extrapyramidal syndrome Extrapyramidale Störungen Sindrome extrapiramidale Syndrome extra-pyramidal Síndrome extrapiramidal Síndrome extrapiramidal hrdo:sgn_id_43310 Pyramidal syndrome Pyramidenbahn-Symptomatik Sindrome piramidale Syndrome pyramidal Síndrome piramidal Síndrome piramidal hrdo:sgn_id_43320 Disturbo dell'esecuzione del movimento/dismetria/bradicinesia/aprassia Doença do movimento de execução/dismetria/bradicinesia/acinesia/apraxia Execution movement disorder/dysmetria/bradykinesia/akinesia/apraxia Störung von Bewegungsabläufen/Dysmetrie/Bradykinesie/Akinesie/Apraxie Trastorno en ejecución del movimiento/dismetría/bradiquinesia/akinesia/apraxia Troubles de l'exécution du mouvement/dysmétrie/bradykinésie/akinésie/apraxie hrdo:sgn_id_43330 Hipotonia Hipotonía Hypotonia Hypotonie Hypotonie Ipotonia hrdo:sgn_id_43340 Hipertonia/espasticidade/rigidez Hipertonía/espasticidad/rigidez Hypertonia/spasticity/rigidity/stiffness Hypertonie/rigidité/spasticité Ipertonia/spasticità/rigidità muskuläre Hypertonie/Rigidität/Spastik hrdo:sgn_id_43350 Areflessia/iporeflessia Areflexia/hyporeflexia Areflexie/Hyporeflexie Arreflexia/hiporreflexia Arreflexia/hiporreflexia Aréflexie/hyporéflexie hrdo:sgn_id_43360 Hiperreflexia Hiperreflexia Hypereflexia Hyperreflexie Hyperréflexie Iperreflessia hrdo:sgn_id_43370 Emiplegia/diplegia/emiparesi/paralisi degli arti Hemiplegia/diplegia/hemiparesia/limb palsy Hemiplegia/diplegia/hemiparesia/parésia dos membros Hemiplegie/Diplegie/Hemiparese/Extremitätenlähmung Hemiplejia/diplejia/hemiparesia/parálisis de las extremidades Hémiplégie/diplégie/hémiparésie/paralysie des membresy hrdo:sgn_id_43380 Accès paralytiques/paralysie aiguë Acute palsy Paralisi acuta Parálisis aguda Parésia aguda akute Lähmung hrdo:sgn_id_43390 Convulsiones/epilepsia/ausencias/espasmos/estatus epiléptico Convulsioni/epilessia/assenze/spasmi/stato epilettico Convulsions/épilepsie/absences/spasmes/état de mal épileptique Convulsões/epilepsia/ausências/espasmos/estado epiléptico Krampfanfälle/Epilepsie/Absencen/Spasmen/Status epilepticus Seizures/epilepsy/absences/spasms/status epilepticus hrdo:sgn_id_4340 Corneal clouding/opacity/vascularisation Hornhauttrübung Opacamiento/opacidad/vascularización corneal Opacidade/vascularização da córnea Opacità/vascolarizzazione/annebbiamento corneale Opacités/opacification/vascularisation de la cornée/cornéenne hrdo:sgn_id_43400 Deficit/disturbo sensitivo Déficit/problemas de sensibilidad Problemas/deficiências sensitivas Sensibilitätsstörungen Sensitive trouble/deficit Troubles de la sensibilité/déficit sensitif hrdo:sgn_id_43410 Insensibilidad al dolor Insensibilidade à dor Insensibilità al dolore Insensibilité à la douleur Insensitivity to pain Schmerzunempfindlichkeit hrdo:sgn_id_43420 Parestesia/disestesia/hipoestesia/anestesia/dormência Parestesia/disestesia/hipoestesia/anestesia/entumecimiento Parestesia/disestesia/ipoestesia/anestesia/intorpidimento Paresthesia/dysesthesia/hypoesthesia/anesthesia/numbness Paresthésie/dysesthésie/hypoesthésie/anesthésie/picotements/engourdissements Parästhesie/Dysästhesie/Hypoästhesie/Empfindungslosigkeit hrdo:sgn_id_43430 Hiperestesia/alodinia/hiperalgia Hiperestesia/alodínia/hiperalgia Hyperesthesia/allodynia/hyperalgia Hyperesthésie/allodynie/hyperalgie Hyperästhesie/Allodynie/Hyperalgie Iperestesia/allodinia/iperalgia hrdo:sgn_id_43440 Disturbi del sonno e della veglia Pertubrações do sono e da vigília Schlaf- und Wachstörungen Sleep and vigilance disorders Trastornos de vigilia y sueño Troubles de la vigilance et du sommeil hrdo:sgn_id_43450 Somnolence/hypersomnia/parasomnia Somnolence/hypersomnie/parasomnie Somnolencia/hipersomnia/parasomnia Somnolenz/Hypersomnie/Parasomnie Sonnolenza/ipersonnia/parasonnia Sonolência/hipersónia/parassonia hrdo:sgn_id_43460 Insomnia Insomnie Insomnie Insomnio Insonnia Insónia hrdo:sgn_id_43470 Benommenheit/Koma/Lethargie/Desorientierung Obnubilación/coma/letargia/desorientación Obnubilamento/coma/letargia/disorientamento Obnubilation/coma/lethargia/desorientation Obnubilation/coma/perte de connaissance/désorientation/léthargie Obnubilação/coma/letargia/desorientação hrdo:sgn_id_43480 Disturbi del linguaggio/afasia/disfasia/ecolalia/mutismo/logorrea/disprosodia Problemas da fala/afasia/disfagia/ecolália/mutismo/logorreia/disprosódia Problemas de habla/afasia/disfasia/ecolalia/mutismo/logorrea/disprosodia Speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia Sprachstörungen/Aphasie/Dysphasie/Echolalie/Mutismus/Logorrhoe/Dysprosodie Troubles du langage/aphasie/dysphasie/écholalie/mutisme/logorrhée/dysprosodie hrdo:sgn_id_43490 Doenças de elocução/disartria/disfonia Elocution disorders/dysarthria/dysphonia Phonationsstörungen/Dysarthrie/Dysphonie Problemas de dicción/disartria/disfonía Problemi di elocuzione/disartria/disfonia Troubles de l'élocution/dysarthrie/dysphonie hrdo:sgn_id_43500 Alessia/agrafia/problemi di lettura/scrittura Alexia/agrafia/dificuldades em escrever/ler Alexia/agrafia/problemas de lectura/escritura Alexia/agraphia/writing/reading troubles Alexie/Agrafie/Lese-/Rechtschreibschwäche Alexie/agraphie/troubles de l'écriture/de la lecture hrdo:sgn_id_43510 Atraso mental/psicomotor/dificuldades de aprendizagem Deficit cognitivo/ritardo psicomotorio/mentale/disturbi dell'apprendimento Déficit intelectual/retraso mental/psicomotor/dificultades de aprendizaje Déficit intellectuel/retard psycho-moteur/mental/difficultés d'apprentissage Intellectual deficit/mental/psychomotor retardation/learning disability Intelligenzminderung/geistige/psychomotorische Retardierung/Lernstörungen hrdo:sgn_id_43520 Psychic/psychomotor regression/dementia/intellectual decline Regresión/demencia psíquica/psicomotora/declive intelectual Regressione psicomotoria/psichica/demenza/declino cognitivo Regressão psíquica/psicomotor / demência / declínio intelectual Régression psychique/psychomotrice/démence/détérioration intellectuelle psychische/psychomotorische Regression/Demenz/Intelligenzabbau hrdo:sgn_id_43530 Disturbi della memoria/amnesia/ipermnesia Gedächtnisstörungen/Amnesie/Hypermnesie Problemas de memoria/amnesia/hiperamnesia Problemas de memória/amnesia/hipermenesia Troubles de la mémoire/amnésie/hypermnésie Troubles of memory/amnesia/hypermnesia hrdo:sgn_id_43540 Hiperactividad/déficit de atención Hiperactividade/défice de atenção Hyperactivity/attention deficit Hyperaktivität/Aufmerksamkeitsstörung Iperattività/deficit dell'attenzione Troubles de l'attention/déficit de l'attention/hyperactivité hrdo:sgn_id_43550 Agnosia tattile/uditiva/visiva/prosopagnosia/simultagnosia Agnosia táctil/visual/auditiva/propagnosia/simultagnosia Agnosia/propopagnosia/simultagnosia visual/auditiva/táctil Agnosie visuelle/auditive/tactile/prosopagnosie/simultagnosie Visual/auditory/tactile agnosia/propopagnosia/simultagnosia visuelle/auditive/taktile Agnosie/Prosopagnosie/Simultanagnosie hrdo:sgn_id_43560 Alterações psíquicas/comportamentais Disturbi comportamentali/psichici Problemas psíquicos/de comportamiento Psychic/behavioural troubles Psychische Störungen/Verhaltensauffälligkeiten Troubles psychiques/troubles du comportement hrdo:sgn_id_43570 Atuismus/autistische Störungen Autism/autistic disoders Autisme/traits autistiques Autismo/doenças do espectro autista Autismo/trastornos autísticos Disturbi autistici/autismo hrdo:sgn_id_43580 Disturbo ossessivo-compulsivo Doença obsessiva-compulsiva Obsessive-compulsive disorder Trastorno obsesivo-compulsivo Troubles obsessionnels compulsifs Zwangsstörung hrdo:sgn_id_43590 Delirio/allucinazioni Delirio/alucinación Delirium/Halluzination Delirium/hallucination Delírio/alucinação Délire/hallucination hrdo:sgn_id_4360 Corneal ulceration/perforation Ulcera/perforazione corneale Ulceración/perforación corneal Ulceração/perforação da córnea Ulcération/perforation cornéenne korneale Ulzeration/Perforation hrdo:sgn_id_43600 Anoressia Anorexia Anorexia Anorexia Anorexie Anorexie/Magersucht hrdo:sgn_id_43610 Boulimie/hyperphagie Bulimia/hiperfagia Bulimia/hyperphagia Bulimia/iperfagia Bulimie/Hyperphagie Bulímia/hiperfagia hrdo:sgn_id_43620 Cambios de humor/ansiedad/depresión/apatía/euforia/irritabilidad Disturbi dell'umore/ansia/depressione/apatia/euforia/irritabilità Gemütsstörung/Ängstlichkeit/Depression/Euphorie/Apathie/Reizbarkeit Humour troubles/anxiety/depression/apathy/euphoria/irritability Problemas de humor/anxiedade/depressão/apatia/euforia/irritabilidade Troubles de l'humeur/anxiété/état dépressif/apathie/euphorie/irritabilité hrdo:sgn_id_43630 Psicose/esquizofrenia/doença maníaca Psicosi/schizofrenia/disturbo maniacale Psicosis/esquizofrenia/trastorno maníaco Psychose/Schizophrenie/manische Störung Psychose/schizophrénie/accès maniaques Psychosis/schizophrenia/maniac disorder hrdo:sgn_id_43640 Auto-aggressivity/auto-mutilation Auto-agressividade/auto-mutilação Auto-agressivité/auto-mutilation Autoaggresività/automutilazione Autoagresividad/automutilación Autoagressivität/Automutilation/Selbstverletzendes Verhalten hrdo:sgn_id_4380 Microcornea Microcornea Microcornée Microcórnea Microcórnea Mikrokornea hrdo:sgn_id_4400 Megalocornea Megalocornea Megalocórnea Megalocórnea Megalokornea Mégalocornée hrdo:sgn_id_44000 Anomalias musculares Anomalie muscolari Anomalies des muscles Anomalías musculares Muscle anomalies Muskelanomalien hrdo:sgn_id_44050 Miopatia Miopatia Miopatía Myopathie Myopathie Myopathy hrdo:sgn_id_44100 Miotonia Miotonia Miotonía Myotonia Myotonie Myotonie hrdo:sgn_id_44150 Debilidad/flacidez muscular Debolezza/flaccidità muscolare Faiblesse musculaire/diminution de la force musculaire/flaccidité Fraqueza/flacidez muscular Muscle weakness/flaccidity Muskelschwäche hrdo:sgn_id_4420 Cornea piatta Cornée plate Córnea plana Córnea plana Flat cornea flache Hornhaut hrdo:sgn_id_44200 Contracturas/calambres/trismus/tetania/claudicación/opistotonos Contractures/crampes/trismus/tétanie/claudication/opisthotonos Contractures/cramps/trismus/tetania/claudication/opisthotonos Contratture/crampi/trisma/tetania/claudicazione/opistotono Contraturas/cãimbras/trismus/tétano/claudicação/opistótono Kontrakturen/Krämpfe/Trismus/Tetanie/Klaudikation/Opisthotonus hrdo:sgn_id_44250 Hipotrofia/atrofia/distrofia/agenesia/amiotrofia do músculo Hipotrofia/atrofia/distrofia/agenesia/amiotrofia muscular Hypoptrophie/Atrophie/Dystrophie/Agenesie/Amyotrophie der Muskeln Hypotrophie/dystrophie/agénésie des muscles/amyotrophie/fonte musculaire Ipotrofia/atrofia/distrofia/agenesia/amiotrofia muscolare Muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy hrdo:sgn_id_44300 Hipertrofia muscular Hipertrofia muscular Hypertrophie musculaire Ipetrofia muscolare Muscle hypertrophy Muskelhypertrophie hrdo:sgn_id_44350 Mialgia/dolore muscolare Mialgia/dor muscular Mialgias/dolor muscular Myalgia/muscular pain Myalgie/Muskelschmerz Myalgies/douleurs musculaires/courbatures hrdo:sgn_id_4440 Esclerocórnea Esclerocórnea Sclerocornea Sclerocornea Sclérocornée Sklerokornea hrdo:sgn_id_44400 Muscle ossification Muskelverknöcherung Osificación muscular Ossification du muscle Ossificazione muscolare Ossificação do músculo hrdo:sgn_id_44450 Abnormal muscle biopsy/muscle enzymes/CPK/LDH/aldolase/creatin phosphokinase Anomale Muskel-Biopsie/Muskelenzyme/CPK/LDH/Aldolase/Kreatin-Phosphokinase Anomalie enzimi muscolari/CPK/LDH/aldolasi/biopsia muscolare Biopsie/enzymes musculaires anormales/CPK/LDH/aldolase anormales Biópsia muscular/enzimas musculares/CPK/LDH/aldolase anormais Enzimas musculares/CPK/LDH/aldolasa/creatina fosfoquinasa/biopsia musc.anormales hrdo:sgn_id_44500 Fasciite Fasciitis Fascite Fascitis Fasciíte Fasziitis hrdo:sgn_id_44550 Miosite Miosite Miositis Myosite Myositis Myositis hrdo:sgn_id_4460 Embriotoxon Embriotoxon Embriotoxon Embryotoxon Embryotoxon Embryotoxon hrdo:sgn_id_44600 Esclerose muscular Esclerosis muscular Muscular sclerosis Sclerosi muscolare Sclérose musculaire muskuläre Sklerose hrdo:sgn_id_44650 Edema muscolare Edema muscular Edema muscular Muscular edema muskuläres Ödem Œdème musculaire hrdo:sgn_id_44700 Abnormal EMG/electromyogram/electropmyography Anomalie all'EMG/all'elttromiogramma/all'elettromiografia EMG anormal/électromyogramme/électromyographie EMG/electromiograma/electromiografia anormal Electromiografía/electromiograma/EMG anormal auffällige(s) EMG/Elektromyogramm/Elektropmyographie hrdo:sgn_id_4480 Cheratocono/cheratoglobo Keratoconus/keratoglobus Keratokonus/Keratoglobus Kératocône/kératoglobe Queratocono/Queratoglobo Queratocono/Queratoglobo hrdo:sgn_id_4500 Corneal dystrophy Distrofia corneale Distrofia da córnea Distrofia de la córnea Dystrophie de la cornée Hornhautdystrophie hrdo:sgn_id_45000 Anomalias dos ossos/ anomalias esqueléticas Anomalie delle ossa/anomalie scheletriche Anomalies des os Anomalies of bones/skeletal anomalies Anomalías de los huesos/anomalías esqueléticas Knochenanomalien/Skelettanomalien hrdo:sgn_id_45030 Bone/osseous hyperplasia Hiperplasia de los huesos/ósea Hiperplasia do osso/óssea Hyperplasie osseuse Iperplasia ossea/delle ossa Knochen-/ossäre Hyperplasie hrdo:sgn_id_45060 Bone/osseous hypoplasia Hipoplasia de los huesos/ósea Hipoplasia do osso/óssea Hypoplasie osseuse Ipoplasia ossea/delle ossa Knochen-/ossäre Hypoplasie hrdo:sgn_id_45090 Osteoporose/osteopenia/desmineralização/osteomalacia/raquitismo Osteoporosi/osteopenia/demineralizzazione/osteomalacia/rachitismo Osteoporosis/osteopenia/demineralisation/osteomalacia/rickets Osteoporosis/osteopenia/desmineralización/osteomalacia/raquitismo Ostoporose/Osteopenie/Demineralisierung/Osteomalazie/Rachitis Ostéoporose/ostéopénie/déminéralisation/ostéomalacie/rachitisme hrdo:sgn_id_45120 Osteoesclerose/osteopetrose/aumento da densidade óssea Osteoesclerosis/osteopetrosis/condensación ósea Osteosclerosi/osteopetrosi/condensazione ossea Osteosclerosis/osteopetrosis/bone condensation Osteosklerose/Osteopetrose/Knochenverdichtung Ostéosclérose/ostéopétrose/condensation osseuse hrdo:sgn_id_45150 Hiperostose Hiperostosis Hyperostose Hyperostose Hyperostosis Iperostosi hrdo:sgn_id_45180 Sinostose Sinostosi Sinostosis Synostose Synostose Synostosis hrdo:sgn_id_4520 Disgenesia irido-corneale/iridogoniodisgenesia Disgenesia iridocorneal/iridogoniodisgenesia Disgenesia iridocorneana/iridogoniodisgenesia Dysgénésie de l'angle irido-cornéen/trabéculodysgénésie Iridocorneal dysgenesis/iridogoniodysgenesis Iridokorneale Dysgenese/Iridogoniodysgenesie hrdo:sgn_id_45210 Disostose/condrodisplasia/osteodisplasia/osteocondrose/displasia esquelética Disostosi/condrodisplasia/osteodisplasia/osteocondrosi/displasia scheletrica Disostosis/condrodisplasia/osteodisplasia/osteocondrosis/displasia esquelética Dysostose/Chondrodysplasie/Osteodysplasie/Osteochondrose/Skelettdysplasie Dysostose/chondrodysplasie/dysplasie squelettique/ostéochondrose/ostéodysplasie Dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia hrdo:sgn_id_45240 Abnormal/absent ossification Anomalia/assenza dell'ossificazione Osificación ausente/anormal Ossification anormale/absente Ossificação anormal/ausente anomale/fehlende Ossifikation hrdo:sgn_id_45270 Fracturas múltiples/fragilidad ósea Fractures multiples/fragilité osseuse Fratture multiple/fragilità ossea Fraturas múltiplas/fragilidade óssea Mutiple fractures/bone fragility Spontanfrakturen/Knochenbrüchigkeit hrdo:sgn_id_45300 Esostosi Exostose Exostosen Exostoses Exostoses Exostosis hrdo:sgn_id_45330 Enchondromatose Enchondrose Enchondroses Encondroses Encondrosi Encondrosis hrdo:sgn_id_45360 Delayed bone age Edad ósea retrasada Età ossea ritardata Idade óssea atrasada Retard de l'âge osseux verzögertes Knochenalter hrdo:sgn_id_45390 Advanced bone age Avance de l'âge osseux Edad ósea avanzada Età ossea avanzata Idade óssea avançada akzeleriertes Knochenalter hrdo:sgn_id_4540 Pterigion Pterygion Pterygium Pterígio Ptérygion Terigión hrdo:sgn_id_45420 Osteolisi/osteoclasia/distruzione/erosioni ossea/e Osteolisis/osteoclasia/erosión/destrucción ósea Osteolyse/Osteoklasie/Knochenabbau/-erosionen Osteolysis/osteoclasia/bone destruction/erosions Osteólise/osteoclasia/destruição óssea/erosões Ostéolyse/destruction osseuse/ostéoclasie/érosions osseuses hrdo:sgn_id_45450 Osteonecrose/enfarte ósseo Osteonecrosi/infarto osseo Osteonecrosis/bone infarction Osteonecrosis/infarto óseo Osteonekrose/Knocheninfarkt Ostéonécrose/infarctus osseux hrdo:sgn_id_45480 Rough trabeculation of bone Trabecolazione ossea grossolana Trabeculación tosca del hueso Trabéculas ósseas grosseiras Trabéculation grossière des os grobe/plumpe Knochentrabekel hrdo:sgn_id_45510 Fibromatose/Knochenfibrom Fibromatose/fibroma ósseo Fibromatosi/fibroma osseo Fibromatosis/bone fibroma Fibromatosis/fibroma óseo Fibrome osseux/fibromatose hrdo:sgn_id_45540 Bone cyst Cisti ossea Knochenzyste Kyste de l'os Quiste óseo Quisto do osso hrdo:sgn_id_45570 Osteochondritis/Ostechondrose Osteochondritis/ostechondrosis Osteocondrite/ostecondrose Osteocondrite/osteocondrosi Osteocondrito/osteocondrosis Ostéochondrite/ostéochondrose hrdo:sgn_id_4560 Blue sclerae Esclerótica azul Esclerótica azul Sclere blu Sclérotiques bleues/bleutées blaue Sklera hrdo:sgn_id_45600 Osteomielite/osteite/periostite/spondilodiscite Osteomielite/osteíte/periostite/espondilodiscite Osteomielitis/osteítis/periostitis/espondilodiscitis Osteomyelitis/Osteitis/ Periostitis/Spondylodiszitis Osteomyelitis/osteitis/periostitis/spondylodisciitis Ostéomyélite/ostéite/périostite/spondylodisciite hrdo:sgn_id_45630 Bone pain Dolor óseo Dolore osseo Dor óssea Douleurs osseuses Knochenschmerz hrdo:sgn_id_45660 Anchilosi ossea Ankyloses osseuses Anquilose do osso Anquilosis ósea Bone ankylosis Knochenankylose hrdo:sgn_id_45690 Bone tumefaction/swelling Hinchazón/tumefacción ósea Knochenschwellung Tumefazione/rigonfiamento ossea/o Tumefação do osso Tuméfactions osseuses hrdo:sgn_id_45720 Anomalia delle metafisi Anomalia metafisária Anomalie des métaphyses Anomalien der Metaphysen Anomalía metafisial Metaphyseal anomaly hrdo:sgn_id_45750 Anomalia delle epifisi Anomalia epifisária Anomalie des épiphyses Anomalía epifisial Epiphyseal anomaly Epiphysen-Anomalie hrdo:sgn_id_45780 Cone epiphyses/epiphysis Epifisi a cono Epiphyses en cône Epífises em cone Epífisis en cono zapfenförmige Epiphysen hrdo:sgn_id_4580 Chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis Uveite cronica/episclerite/sclerite/congiuntivite/cheratite Uveíte crónica/blefarite/epiesclerite/esclerite/conjuntivite/queratite Uveítis crónica/blefaritis/epiescleritis/escleritis/conjuntivitis/queratitis Uvéite/blépharite/épisclérite/sclérite/conjonctivite/kératite chronique chronische Uveitis/Blepharitis/Episkleritis/Skleritis/Konjunktivitis/Keratitis hrdo:sgn_id_45810 Epifisi puntata/e Epiphyses ponctuées Epífises pontuadas Epífisis puntiforme Punctate epiphyses/epiphysis gesprenkelte Epiphysen hrdo:sgn_id_45840 Anomalia diafisaria Anomalia diafisária Anomalie des diaphyses Anomalía diafisial Diaphyseal anomaly Diaphysäre Anomalie hrdo:sgn_id_45870 Bowed diaphysis/diaphyses/long bones Diafisi/ossa lunghe incurvate Diafisis arqueada/diafisis/huesos largos Diáfise curva dos ossos longos Incurvation des diaphyses/membres incurvés/incurvation des os longs verbogene Diaphysis/Diaphysen/lange Knochen hrdo:sgn_id_45900 Diafisi/ossa lunghe gracili/strette/dolicostenomelia Diafisis grácil/estrecha/huesos largos/dolicostenomelia Diaphyses grêles/rétrécies/dolichosténomélie/finesse des os longs Diáfise estreita/fina dos ossos longos/dolicostenomelia Narrowed/gracile diaphysis/diaphyses/long bones/dolichostenomelia schmale/grazile Diaphysen/lange Knochen/Dolichostenomelie hrdo:sgn_id_45930 Diafisi allargate Diafisis alargada Diaphyses élargies/massives Diáfise alargada Enlarged diaphysis/diaphyses vergrößerte Diaphysen hrdo:sgn_id_45960 Anomalia cortical/espessamento da camada cortical do osso Anomalia corticale/strato spesso dell'osso corticale Anomalie corticale/cortex osseux épaissi Anomalóa cortical/capa cortical del hueso gruesa Cortical anomaly/thick bone cortical layer kortikale Anomalie/verdickte Knochenhaut hrdo:sgn_id_4600 Alacrima congénita Alacrimia congenita Alacrymie congénitale Congenital alacrimia Congenital alacrimia kongenitale Alakrimie hrdo:sgn_id_46000 Anomalias da cartilagem, articulações e tecido periarticular Anomalie delle cartilagini, delle articolazioni e del tessuto periarticolare Anomalien der Knorpel, Gelenke und des periartikulären Gewebes Anomalies du cartilages, des articulations et des tissus périarticulaires Anomalies of cartilages, joints and periarticular tissue Anomalías en cartílagos, articulaciones y tejido periarticular hrdo:sgn_id_46040 Articular/joint pain/arthralgia Artralgia/dolore articolare/delle articolazioni Dolor/artralgia articular/de las articulaciones Dor articular/da articulação/artralgia Douleurs articulaires/arthralgies Gelenkschmerzen/Arthralgie hrdo:sgn_id_46080 Hidrartrose/derrame articular/da articulação Hidroartrosis/efusión articular/de la articulación Hydarthrose/Gelenkerguss Hydarthrose/épanchement articulaire Hydrarthrosis/articular/joint effusion Idrartrosi/effusione articolare/delle articolazioni hrdo:sgn_id_46120 Arthrose Arthrose Artrosi Artrosis Osteoarthritis Osteoartrite hrdo:sgn_id_46160 Arthrite/inflammation articulaire/synovite/prolifération synoviale Arthritis/Synovitis/synoviale Proliferation Arthritis/synovitis/synovial proliferation Artrite/sinovite/proliferazione sinoviale Artrite/sinovite/proliferação sinovial Artritis/sinovitis/proliferación sinovial hrdo:sgn_id_4620 Xeroftalmia/ojos secos Xeroftalmia/olhos secos Xeroftalmia/secchezza oculare Xerophthalmia/dry eyes Xerophthalmie/Trockene Augen Xérophtalmie/yeux secs hrdo:sgn_id_46200 Mobilidade reduzida das articulações/rigidez articular/anquilose Mobilità articolare limitata/rigidità/anchilosi articolare Movilidad articular restringida/rigidez articular/anquilosis Raideur articulaire/amplitude mouvement limitée/ankylose/flexum/flessum Restricted joint mobility/joint stiffness/ankylosis eingeschränkte Gelenkbeweglichkeit/steife Gelenke/Ankylose hrdo:sgn_id_46240 Musculo-tendinous retractions Retracciones musculo-tendinosas Retrazioni muscolo-tendinee Retrações músculo-tendinosas Rétractions musculo-tendineuses muskulotendinöse Retraktion hrdo:sgn_id_46280 Articulation déformée/déformation articulaire Deformación articular/de la articulación Deformazione articolare/delle articolazioni Deformação da articulação/articular Gelenkfehlbildung Joint/articular deformation hrdo:sgn_id_46320 Cartilage destruction/chondrolysis Destrucción del cartílago/condrólisis Destruction du cartilage/chondrolyse Destruição da cartilagem/condrólise Distruzione delle cartilagini/condrolisi Knorpelzerstörung/Chondrolyse hrdo:sgn_id_46360 Articolazioni iperestensibili/iperlassità articolare Articulaciones hiperextensibles/hiperlaxitud articular Hiperextensão/hiperlaxidade articular Hyperextensible joints/articular hyperlaxity Hyperlaxité ligamentaire/articulation hyperlaxe überstreckbare Geleneke/Gelenküberbeweglichkeit hrdo:sgn_id_4640 Bindehautödem/Chemosis/rotes Auge Conjunctival injection/chemosis/red eye Iniezione/chemosi congiuntivale/occhi rossi Injection conjonctivale/chémosis/conjonctives rouges Injeção da conjuntiva/quemose/olhos vermelhos Inyección conjuntival/quemosis/ojo rojo hrdo:sgn_id_46400 Chondritis/Knorpelentzündung Chondritis/cartilage inflammation Condrite/infiammazione delle cartilagini Condrite/inflamação da cartilagem Condritis/inflamación del cartílago Inflammation du cartilage/chondrite hrdo:sgn_id_46440 Dislocación de una articulación/subluxación Dislocazione/sublussazione articolare Gelenkluxation/Verrenkung Joint dislocation/subluxation Luxation articulaire/subluxation/désaxation Luxação/sublaxação da articulação hrdo:sgn_id_46480 Dislocación de codo Dislocazione del gomito Elbow dislocation Ellenbogenluxation Luxation du coude Luxação do cotovelo hrdo:sgn_id_46520 Dislocación de hombro Dislocazione della spalla Luxation de l'épaule Luxação do ombro Schulterluxation Shoulder dislocation hrdo:sgn_id_46560 Dislocación de rótula Dislocazione della rotula Kniescheibenverrenkung Luxation de la rotule Luxação da rótula Patella dislocation hrdo:sgn_id_4660 Bindehauttumor/epibulbäres Dermoid Conjunctival tumor/epibulbar dermoid Tumeurs de la conjonctive/kystes dermoïdes épibulbaires Tumor conjuntival/dermoide epibulbar Tumor da conjuntiva/dermóide epibulbar Tumore congiuntivale/dermoide epibulbare hrdo:sgn_id_46600 Dislocación de cadera/displasia de cadera/coxa valga/coxa vara/coxa plana Dislocazione/displasia dell'anca/coxa valga/coxa vara/coxa plana Hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana Hüftdysplasie/-dislokation/Coxa valga/Coxa vara/Coxa plana Luxation/dysplasie de hanche/coxa valga/coxa vara/coxa plana Luxação/displasia da anca / coxa valga/coxa vara/coxa plana hrdo:sgn_id_46640 Calcificación de los cartílagos/calcificación intraarticular Calcification des cartilages/calcifications intra-articulaires Calcification of cartilages/intraarticular calcification Calcificazione delle cartilagini/calcificazione intra-articolare Calcificação das cartilagens/calcificação intra-articular Verkalkung der Knorpel/intraartikuläre Kalzifikation hrdo:sgn_id_46680 Anomalia/infiammazione delle entesi/entesite/entesopatia Anomalia/inflamação das enteses / entesite / entesopatia Anomalie/inflammation des enthèses/enthésite/enthésopathie Anomalía/inflamación en la entesis/entesitis/entesopatía Enthesis anomaly/inflammation/enthesitis/enthesopathy Enthesis-Anomalien/-Entzündungen/Enthesitis/Enthesopathie hrdo:sgn_id_46720 Anomalia del tessuto periarticolare/calcificazioni extra-articolari Anomalia do tecido periarticular / calcificações extra-articulares Anomalie des periartikulären Gewebes/extraartikuläre Verkalkung Anomalie des tissus périarticulaires /calcifications extra-articulaires Anomalía en el tejido periarticular/calcificaciones extraarticulares Periarticular tissue anomaly/extraarticular calcifications hrdo:sgn_id_46760 Distorsione dell'articolazione Entorse articular Entorses Sprain/twisted joint Torcedura/esguince de una articulación verrenktes/verdrehtes Gelenk hrdo:sgn_id_4680 Conjunctival telangiectasia Telangiectasia conjuntival Telangiectasia da conjuntiva Teleangiectasia congiuntivale Télangiectasies de la conjonctive konjunktivale Teleangiektasie hrdo:sgn_id_46800 Rottura dei tendini/tendinite/borsite/tenosinovite Rotura del tendón/tendinitis/bursitis/tenosinovitis Ruptura do tendão/tendinite/bursite/tenosinovite Ruptures tendineuses/tendinites/bursites/ténosynovites Sehnenriss/Tendinitis/Bursitis/Tenosynovitis Tendon rupture/tendinitis/bursitis/tenosynovitis hrdo:sgn_id_46840 Articular click Clic articular Click articolare Click articular Gelenkschnappen Ressaut articulaire hrdo:sgn_id_4700 Cataract/lens opacification Cataracte/opacités cristalliniennes Cataratas/opacificación del cristalino Cataratas/opacificação do cristalino Cataratta/opacità del cristallino Katarakt/Linsentrübung hrdo:sgn_id_47000 Anomalias do sistema imunitário Anomalie del sistema immunitario Anomalies du système immunitaire Anomalies of the immunitary system Anomalías del sistema inmunitario Störungen des Immunsystems hrdo:sgn_id_47080 Immundefekt/erhöhte Anfälligkeit für Infekte/wiederkehrende Infekte Immunodeficiency/increased susceptibility to infections/recurrent infections Immunodeficienza/suscettibilità maggiore alle infezioni/infezioni ricorrenti Imunodeficiência/suceptibilidade aumentada a infeções / infeções recorrentes Inmunodeficiencia/aumento de susceptibilidad a infecciones/a infecc. recurrentes Susceptibilité aux infections/immunodéficience/déficit immunitaire hrdo:sgn_id_47160 Agamaglobulinemia/hipogamaglobulinemia/ deficiência das células B Agammaglobulinemia/hypogammaglobulinemia/B-cell deficiency Agammaglobulinemia/ipogammaglobulinemia/deficit della cellule B Agammaglobulinämie/Hypogammaglobulinämie /B-Zell-Mangel Agammaglobulinémie/hypogammaglobulinémie/déficit en lymphocytes B agammaglobulinemia/hipogammaglobulinemia/déficit de células B hrdo:sgn_id_4720 Dislocación/luxación/subluxación/ectopia del cristalino Dislocazione/lussazione/sublussazione/ectopia del cristallino Ectopie/luxation/subluxation du cristallin Lens dislocation/luxation/subluxation/ectopia lentis Linsendislokation/-luxation/-subluxation/ektopische Linsen Luxação/subluxação/ectopia do cristalino hrdo:sgn_id_47240 Déficit immunitaire combiné sévère/SCID Severe combined immune deficiency syndrome/SCID Sindrome da immunodeficienza combinata severa/SCID Síndrome de imunodeficiência combinada grave /SCID Síndrome de inmunodeficiencia combinada severa/SCID schwerer kombinierter Immundefekt/SCID hrdo:sgn_id_47320 Deficit delle cellule T/deficit immunitario cellulare Deficiência das células T/ deficiência imunitária celular Déficit de células T/déficit de células inmunitarias Déficit de l'immunité cellulaire/déficit en lymphocytes T T-Zell-Mangel/zelluläres Immundefizit T-cell deficiency/cellular immunity deficiency hrdo:sgn_id_4740 Afachia/assenzacristallino/microfachia/sferofachia/bifachia/lenticono/lentiglobo Afaquia/micro-/esferofaquia/bifaquia/ausencia de cristalino/lentícono/lentíglobo Afaquia/micro/esfero/bifaquia/ausência do cristalino/lenticono/lentiglobo Aphakia/microphakia/spherophakia/biphakia/absence of lens/lenticone/lentiglobus Aphakie/Mikrophakie/Spherophakie/Biphakie/fehlende Linse/Lentikonus/Lentiglobus Aphakie/micro/sphéro/biphakie/absence du cristallin/lenticone/lentiglobe hrdo:sgn_id_47400 Anomalias do complemento Anomalie del complemento Anomalie des Komplementsystems Anomalies of complement Anomalías del complemento Déficit du complément hrdo:sgn_id_47480 Hipergamaglobulinemia Hipergammaglobulinemia Hypergammaglobulinemia Hypergammaglobulinämie Hypergammaglobulinémie Ipergammaglobulinemia hrdo:sgn_id_47560 Auto-immunité/réaction auto-immune/présence d'auto-anticorps Autoimmunity/autoimmune reaction/autoantibodies Autoimmunità/reazione autoimmune/autoanticorpi Autoimmunkrankheit/autoimmune Reaktion/Autoantikörper Autoinmunidad/reacciones autoinmunes/autoanticuerpos Reação autoimunitária/autoimune / autoanticorpos hrdo:sgn_id_4760 Coloboma del cristalino Coloboma del cristallino Coloboma do cristalino Coloboma of the lens Colobome du cristallin Linsenkolobom hrdo:sgn_id_47640 Reacciones alérgicas severas/atopía Reazione allergica grave/atopia Reação alérgica grave/atopia Réactions allergiques sévères/atopie Severe allergic reaction/atopy schwere allergische Reaktionen hrdo:sgn_id_47720 Immunoglobuline monoclonali/gammapatia/disglobulinemia Immunoglobulines monoclonales/gammapathie monoclonale/dysglobulinémie Imunoglobinas monoclonais/gamapatia/disglobulinemia Inmunoglobulinas monoclonales/gammapatía/disglobulinemia Monoclonal immunoglobulins/gammapathy/dysglobulinemia monoklonale Immunoglobine/Gammapathie/Dysglobulinämie hrdo:sgn_id_4780 Anomalias da coróide/atrofia da coróide/coroidermia Anomalie/atrofia della coroide/coroideremia Anomalien der Chorioidea/Aderhautatrophie/Chorioideremie Anomalies/atrophie de la choroïde/choroïdérémie Anomalías coroideas/atrofia coroidea/coroideremia Choroidal anomalies/atrophy/choroideremia hrdo:sgn_id_47800 Crioglobulinemia Crioglobulinemia Crioglobulinemia Cryoglobulinemia Cryoglobulinémie Kryoglobulinämie hrdo:sgn_id_48000 Anomalias do sistema hematológico Anomalie del sistema ematologico Anomalie du système hématologique Anomalies of the hematological system Anomalías del sistema hematológico Störungen des hämatologischen Systems hrdo:sgn_id_48020 Anomalias da medula óssea Anomalie del midollo spinale Anomalies de la moelle osseuse Anomalías de la médula ósea Bone marrow anomalies Knochenmarksanomalien hrdo:sgn_id_48060 Aplasie médullaire/insuffisance médullaire/pancytopénie Blutbildungsstörung/Panzytopenie Bone marrow failure/pancytopenia Fallo de la médula ósea/pancitopenia Insufficienza del midollo spinale/pancitopenia Insuficiência da medula óssea/pancitopenia hrdo:sgn_id_48080 Bone marrow/medullar infiltration Infiltración medular/de la medula ósea Infiltrats médullaires Infiltrazione del midollo spinale/midollare Infiltração da medula óssea/medular Knochenmarksinfiltration hrdo:sgn_id_48100 Anomalie de la lignée rouge Anomalie der roten Blutkörperchen Disturbi eritrocitarie Doenças dos glóbulos vermelhos Red cell disorders Trastornos de los glóbulos rojos hrdo:sgn_id_48120 Anaemia Anemia Anemia Anemia Anämie Anémie hrdo:sgn_id_48140 Anemia emolitica Anemia hemolítica Anemia hemolítica Anémie hémolytique Hemolytic anemia hämolytische Anämie hrdo:sgn_id_48160 Anemia sideroblastica Anemia sideroblástica Anemia sideroblástica Anémie sidéroblastique Sideroblastic anemia sideroblastische Anämie hrdo:sgn_id_48180 Anemia microcitica Anemia microcítica Anemia microcítica Anémie microcytaire Microcytic anemia mikrozytische Anämie hrdo:sgn_id_48200 Anemia hipersiderémica Anemia hipersiderémica Anemia ipersideremica Anémie hypersidérémique Hypersideremic anemia hypersiderämische Anämie hrdo:sgn_id_48220 Anemia ferropénica Anemia ferropénica Anenia ferropenica Anémie ferriprive Eisenmangel/ferropenische Anämie Ferropenic anemia hrdo:sgn_id_48240 Anemia normocitica Anemia normocítica Anemia normocítica Anémie normocytaire Normocytic anemia normozytische Anämie hrdo:sgn_id_48260 Anemia macrocitica Anemia macrocítica Anemia macrocítica Anémie macrocytaire Macrocytic anemia makrozytische Anämie hrdo:sgn_id_48280 Anemia megaloblastica Anemia megaloblástica Anemia megaloblástica Anémie mégaloblastique Megaloblastenanämie Megaloblastic anemia hrdo:sgn_id_48300 Poliglobulia Poliglobulia Poliglobulia Polyglobulia Polyglobulie Polyglobulie hrdo:sgn_id_48320 Anomalias da estrutura/forma dos glóbulos vermelhos Anomalie de forme/structure des hématies/globules rouges Anomalie della struttura/forma degli eritrociti Anomalías en la forma/estructura de los glóbulos rojos Red cell structure/shape anomalies Struktur-/Formanomalien der roten Blutkörperchen hrdo:sgn_id_48340 Emoglobinosi/emoglobinopatia Hemoglobinose/hemoglobinopatia Hemoglobinosis/hemoglobinopathy Hemoglobinosis/hemoglobinopatías Hämoglobinämie Hémoglobinose/anomalies de l'hémoglobine hrdo:sgn_id_48360 Anomalie de la lignée blanche Anomalie der weißen Blutkörperchen Disturbi dei globuli bianchi Doenças dos glóbulos brancos Trastornos de los glóbulos blancos White cell disorders hrdo:sgn_id_48400 Leucopenia/Hipoleucocitosis Leucopenia/hipoleucocitose Leucopenia/ipoleucocitosi Leucopénie/hypoleucocytose Leukopenia/hypoleukocytosis Leukozytopenie/Hypoleukozytose hrdo:sgn_id_48420 Hiperleucocitose/leucocitose Hiperleucocitosis/leucocitosis Hyperleucocytose/leucocytose Hyperleukocytosis/leukocytosis Hyperleukozytose/Leukozytose Iperleucocitosi/leucocitosi hrdo:sgn_id_48440 Anomalias dos eosinofílos/hipereosinofilia Anomalie degli eosinofili/ipereosinofilia Anomalie der eosinophilen Granulozyten/Hypereosinophilie Anomalie des éosinophiles/hyperéosinophilie Anomalías de los eosinófilos/hipereosinofilia Eosinophils anomalies/hypereosinophilia hrdo:sgn_id_48460 Anomalias dos basófilos Anomalie dei basofili Anomalie der basophilen Granulozyten Anomalie des basophiles Anomalías de los basófilos Basophils anomalies hrdo:sgn_id_48480 Anomalias da células polinucleares/neutrófilos / neutropenia Anomalie dei neutrofili/cellule polinucleate/neutropenia Anomalie des polynucléaires/neutropénie Anomalías de las células polinucleares/neutrófilos/neutropenia Polynuclear cells/neutrophils anomalies/neutropenia polynukleäre Zellen/Anomalien der Neutrophile/Neutropenie hrdo:sgn_id_48500 Anomalias dos linfócitos Anomalie dei linfociti Anomalie der Lymphozyten Anomalie des lymphocytes Anomalías de los linfocitos Lymphocytes anomalies hrdo:sgn_id_48520 Linfopenia Linfopenia Linfopenia Lymphopenia Lymphopenie Lymphopénie hrdo:sgn_id_48540 Hiperlinfocitose Hiperlinfocitosis Hyperlymphocytose Hyperlymphocytosis Hyperlymphozytose Iperlinfocitosi hrdo:sgn_id_48560 Anomalias dos monócitos/macrófagos Anomalie dei monociti/macrofagi Anomalie des monocytes/macrophages Anomalías de los monocitos/macrófagos Monocytes/macrophages anomalies Monozyten-/Makrophagenanomalien hrdo:sgn_id_48580 Anomalie de la lignée plaquettaire/thrombopathies Anomalie der Blutplättchen/Thrombopathien Disturbi della piastrine/trombopatie Doenças das plaquetas/trombopatias Platelet disorders/thrombopathies Trastornos de las plaquetas/trombopatías hrdo:sgn_id_48600 Thrombocytopenia/thrombopenia Thrombopénie/thrombocytopénie Thrombozytopenie/Thrombopenie Trombocitopenia/trombopenia Trombocitopenia/trombopenia Trombocitopenia/trombopenia hrdo:sgn_id_48620 Anomalia da função das plaquetas Anomalia della funzione delle piastrine Anomalie der Blutplättchenfunktion Anomalie fonctionnelle des plaquettes Anomalía en la función de las plaquetas Platelets function anomaly hrdo:sgn_id_48640 Anomalia da forma das plaquetas Anomalie della forma delle piastrine Anomalie der Blutplättchenform Anomalie morphologique des plaquettes Anomalías en la forma de las plaquetas Platelets shape anomalies hrdo:sgn_id_48660 Anomalie der Blutgerinnung/Hämostasestörung Clotting/hemostasis disorders Disturbi della coagulazione/dell'emostasi Doenças da coagulação/hemostase Trastornos de la coagulación/hemostasis Troubles de la coagulation/anomalies de l'hémostase hrdo:sgn_id_48680 Emorragia/sindrome emorragica/sanguinamento eccessivo/di lunga durata Hemorragia / síndrome hemorrágico / hemorragia excessiva/de longa duração Hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding Hämorrhagie/hämorrhagisches Syndrom/exzessive/langanhaltende Blutungen Hémorragies/syndrome hémorragique/saignements excessifs/saignements prolongés Síndrome hemorrágico/hemorragia/sangrado de larga duración hrdo:sgn_id_48700 Ematomi Hematomas Hematomas Hematomas Hämatome Hématomes hrdo:sgn_id_48720 Emartrosi Hemarthrosis Hemartrose Hemartrosis Hämarthrose Hémarthrose hrdo:sgn_id_48740 Epistassi/sanguinamento del naso Epistaxis/Nasenbluten Epistaxis/Sangrado nasal Epistaxis/hemorragia nasal Epistaxis/nose bleeding Epistaxis/saignements de nez hrdo:sgn_id_48780 Gengivorragia/sanguinamento gengivale Gingivorragia/hemorragia gingival Gingivorragia/sangrado gingival Gingivorrhagia/gingival bleeding Saignements gingivaux/gingivorragies/hémorragies gingivales Zahnfleischblutung hrdo:sgn_id_48800 Emorragia meningea/cerebrale/intracranica Hemorragia intracraneal/cerebral/meningea Hemorragia intracraniana/cerebral/meningea Hémorragies intra-crâniennes/cérébro-méningées/cérébrales Intracranial/cerebral/meningeal hemorrhage intrakraniale/zerebrale/meningeale Hämorrhagie hrdo:sgn_id_48820 Emorragia cutanea/mucosa Hemorragia cutánea/mucosa Hemorragia mucosa/cutânea Hémorragies cutanéo-muqueuses Mucosal/cutaneous hemorrhage mukosale/kutane Hämorrhagie hrdo:sgn_id_48840 Emorragia interna Hemorragia interna Hemorragia interna Hémorragies internes Innere Blutungen Internal hemorrhage hrdo:sgn_id_48860 Blood hyperviscosity/hypercoagulability Hipercoagulabilidad/hiperviscosidad de la sangre Hiperviscosidade do sangue/hipercoagulolabilidade Hyperviscosité/hypercoagulabilité Iperviscosità/ipercoagulabilità sanguigna hypervisköses Blut/Hyperkoagulabilität hrdo:sgn_id_49000 Anomalias metabólicas Anomalie du métabolisme Anomalie metaboliche Anomalías metabólicas Metabolic anomalies Stoffwechselanomalien hrdo:sgn_id_49020 Descompensación metabólica Descompensação metabólica Décompensation métabolique Metabolic decompensation Scompenso metabolico metabolische Kompensationsstörung hrdo:sgn_id_49040 Hipoproteinemia Hipoproteinemia Hyperproteinämie Hypoproteinemia Hypoprotidémie/hypoprotéinémie Ipoproteinemia hrdo:sgn_id_49060 Hipernatremia Hipernatremia Hypernatremia Hypernatriämie Hypernatrémie Ipernatriemia hrdo:sgn_id_49080 Hiponatremia Hiponatremia Hypernatriämie Hyponatremia Hyponatrémie Iponatriemia hrdo:sgn_id_49100 Hiperamonemia Hiperamonemia Hyperammonemia Hyperammoniémie Hyperammonämie Iperammoniemia hrdo:sgn_id_49120 Hipoamonemia Hipoamonemia Hyperammonämie Hypoammonemia Hypoammoniémie Ipoammoniemia hrdo:sgn_id_49140 Hipocaliemia Hipocaliemia Hypokalemia Hypokaliämie Hypokaliémie Ipokaliemia hrdo:sgn_id_49160 Hipercaliemia Hipercaliemia Hyperkalemia Hyperkaliämie Hyperkaliémie Iperkaliemia hrdo:sgn_id_49180 Hiperferritinemia/exceso de hierro Hiperferritinemia/sobrecarga de ferro Hyperferritinemia/iron overload Hyperferritinämie/Eisenüberladung Hyperferritinémie/surcharge martiale/fer sérique élevé Iperferritinemia/sovraccarico di ferro hrdo:sgn_id_49200 Anomalias do metabolismo fosfocálcico Anomalie del metabolismo fosfocalcico Anomalie du métabolisme phosphocalcique Anomalías del metabolismo fosfocálcico Calcium/Phosphor-Stoffwechselstörungen Phosphocalcic metabolism anomalies hrdo:sgn_id_49220 Hipercalcemia Hipercalcemia Hypercalcemia Hypercalcémie Hyperkalzämie Ipercalcemia hrdo:sgn_id_49240 Hipocalcemia Hipocalcemia Hypocalcemia Hypocalcémie Hypokalzämie Ipocalcemia hrdo:sgn_id_49260 Hipercalciuria Hipercalciuria Hypercalciuria Hypercalciurie Hyperkalziurie Ipercalciuria hrdo:sgn_id_49280 Hipocalciuria Hipocalciuria Hypocalciuria Hypocalciurie Hypokalziurie Ipocalciuria hrdo:sgn_id_49300 Hipofosfatemia Hipofosfatemia Hyperphosphatämie Hypophosphatemia Hypophosphatémie Ipofosfatemia hrdo:sgn_id_49320 Hiperfosfatemia Hiperfosfatemia Hyperphosphatémie Hyperphosphtemia Hypophosphatämie Iperfosfatemia hrdo:sgn_id_49340 Anomalias do metabolismo dos ácidos orgânicos Anomalie del metabolismo degli acidi organici Anomalie du métabolisme des acides organiques Anomalías en el metabolismo de los ácidos orgánicos Organic acid metabolism anomalies Störungen im Stoffwechsel organischer Säuren hrdo:sgn_id_49360 Aminoacid metabolism anomalies/aminoaciduria Aminosäure-Stoffwechselstörungen/Aminoazidurie Anomalias do metabolismo dos aminoácidos/aminoacidúria Anomalie del metabolismo degli aminoacidi/aminoaciduria Anomalie du métabolisme des acides aminés/aminoacidurie Anomalías en el metabolismo de aminoácidos/aminoaciduria hrdo:sgn_id_49380 Anomalias da cadeia respiratória/mitocondrial Anomalie de la chaîne respiratoire/anomalie du métabolisme mitochondriale Anomalie della catena respiratoria/mitocondriali Anomalías mitocondriales/de la cadena respiratoria Mitochondriale Anomalien/Störungen der Atmungskette Respiratory chain /mitochondrial anomalies hrdo:sgn_id_49400 Anomalias do metabolismo dos carbohidratos Anomalie del metabolismo dei carboidrati Anomalie du métabolisme des carbohydrates Anomalías en el metabolismo de carbohidratos Carbohydrates metabolism anomalies Kohlenhydrat-Stoffwechelstörungen hrdo:sgn_id_49420 Mucopolisacariduria Mucopolisaccariduria Mucopolissacahiduria Mucopolysacchariduria Mucopolysaccharidurie Mukopolysaccharidose hrdo:sgn_id_49440 Oligosacaduria Oligosacariduria Oligosaccariduria Oligosaccharidose Oligosacchariduria Oligosaccharidurie hrdo:sgn_id_49460 Anomalias do metabolismo lipídico Anomalie del metabolismo dei lipidi Anomalie du métabolisme des lipides Anomalías en el metabolismo de lípidos Lipid metabolism anomalies Lipidstoffwechselstörungen hrdo:sgn_id_49480 Hiperlipidemia/hipercolesterolemia/hipertrigliceridemia Hiperlipidemia/hipercolosterolemia/hipertrigliceridemia Hyperlipidemia/hypercholesterolemia/hypertriglyceridemia Hyperlipidämie/Hypercholesterinämie/Hypertriglyzeridämie Hyperlipémie/hypercholestérolémie /hypertriglycéridémie Iperlipidemia/ipercolesterolemia/ipertrigliceridemia hrdo:sgn_id_49500 Lipidose/Sulfatidose Lipidose/sulfatidose Lipidose/sulfatidose Lipidosi/solfatidosi Lipidosis/sulfatidosis Lipidosis/sulfatidosis hrdo:sgn_id_49520 Anomalias do metabolismo das purinas e pirimidinas Anomalie del metabolismo delle purine e delle pirimidine Anomalie du métabolisme des purines et pyrimidines Anomalías en el metabolismo de purinas y pirimidinas Purin- und Pyrimidin-Stoffwechselstörungen Purine and pyrimidine metabolism anomalies hrdo:sgn_id_49540 Hiperuricemia Hiperuricemia Hyperuricemia Hyperuricémie Hyperurikämie Iperuricemia hrdo:sgn_id_49560 Anomalias do metabolismo das porfirinas/porfiria Anomalie del metabolismo delle porfirine/porfiria Anomalie du métabolisme des porphyrines Anomalías en el metabolismo de porfirinas/porfiria Porphyrin-Stoffwechselsstörungen/Porphyrie Porphyrins metabolism anomalies/porphyria hrdo:sgn_id_49580 Anomalias do metabolismo dos oligoelementos Anomalie del metabolismo degli oligoelementi Anomalie du métabolisme des oligo-éléments/métaux Anomalías en el metabolismo de los oligoelementos Oligoelements metabolism anomalies Spurenelement-Stoffwechselstörungen hrdo:sgn_id_49600 Deficit vitaminico Deficiência de vitaminas Déficit en vitamines Déficit vitamínico Vitamin deficiency Vitamin-Mangel hrdo:sgn_id_49620 Deficit di vitamina A Deficiência de vitamina A Déficit de vitamina A Déficit en vitamine A Vitamin A deficiency Vitamin A-Mangel hrdo:sgn_id_49640 Deficit di vitamina B1 Deficiência de vitamina B1 Déficit de vitamina B1 Déficit en vitamine B1 Vitamin B1 deficiency Vitamin B1-Mangel hrdo:sgn_id_49660 Deficit di vitamina B2 Deficiência de vitamina B2 Déficit de vitamina B2 Déficit en vitamine B2 Vitamin B2 deficiency Vitamin B2-Mangel hrdo:sgn_id_49680 Deficit di vitamina B3/PP Deficiência de vitamina B3/PP Déficit de vitamina B3/PP Déficit en vitamine B3/PP Vitamin B3/PP deficiency Vitamin B3/PP-Mangel hrdo:sgn_id_49700 Deficit di vitamina B5 Deficiência de vitamina B5 Déficit de vitamina B5 Déficit en vitamine B5 Vitamin B5 deficiency Vitamin B5-Mangel hrdo:sgn_id_49720 Deficit di vitamina B6 Deficiência de vitamina B6 Déficit de vitamina B6 Déficit en vitamine B6 Vitamin B6 deficiency Vitamin B6-Mangel hrdo:sgn_id_49740 Deficit di vitamina B8 Deficiência de vitamina B8 Déficit de vitamina B8 Déficit en vitamine B8 Vitamin B8 deficiency Vitamin B8-Mangel hrdo:sgn_id_49760 Deficit di viitamina B9 Deficiência de vitamina B9 Déficit de vitamina B9 Déficit en vitamine B9 Vitamin B9 deficiency Vitamin B9-Mangel hrdo:sgn_id_49780 Deficit di vitamina B12 Deficiência de vitamina B12 Déficit de vitamina B12 Déficit en vitamine B12 Vitamin B12 deficiency Vitamin B12-Mangel hrdo:sgn_id_49800 Deficit di vitamina C Deficiência de vitamina C Déficit de vitamina C Déficit en vitamine C Vitamin C deficiency Vitamin C-Mangel hrdo:sgn_id_49820 Deficit di vitamina D Deficiência de vitamina D Déficit de vitamina D Déficit en vitamine D Vitamin D deficiency Vitamin D-Mangel hrdo:sgn_id_49840 Deficit di vitamina E Deficiência de vitamina E Déficit de vitamina E Déficit en vitamine E Vitamin E deficiency Vitamin E-Mangel hrdo:sgn_id_49860 Deficit di vitamina K/K1/K2 Deficiência de vitamina K/K1/K2 Déficit de vitamina K/K1/K2 Déficit en vitamine K/K1/K2 Vitamin K/K1/K2 deficiency Vitamin K/K1/K2-Mangel hrdo:sgn_id_5000 Anomalias do vítreo/hialite/vascularização persistente do vítreo Anomalie del vitreo/ialite/vascolarizzazione persistente del vitreo Anomalies du vitré/hyalite/persistance vascularisation fœtale du vitré Anomalías/hialitis/vascularización persistente del cuerpo vítreo Glaskörperanomalien/Hyalitis/persistierende vitreale Vaskularisation Vitreous anomalies/hyalitis/persistent vitreous vascularisation hrdo:sgn_id_50000 Neoplasias/tumores Neoplasie/Tumore Neoplasie/tumori Neoplasmas/tumores Neoplasms/tumors Tumeur/néoplasie hrdo:sgn_id_50010 Head and neck neoplasm/tumor/carcinoma/cancer Neoplasia/tumor/carcinoma/cancro da cabeça e pescoço Neoplasia/tumore/carcinoma/cancro della testa e del collo Neoplasie/Tumor/Karzinom/Krebs von Kopf und Nacken Neoplasma/tumor/carcinoma/cáncer de cabeza y cuello Tumeur/carcinome/cancer de la tête et du cou hrdo:sgn_id_50030 Neoplasia/tumor/carcinoma/cancro do nariz/seios nasais Neoplasia/tumore/carcinoma/cancro del naso/del seno nasale Neoplasie/Tumor/Karzinom/Krebs der Nase/Nasennebenhöhlen Neoplasma/tumor/carcinoma/cáncer en nariz/seno nasal Nose/nasal sinus neoplasm/tumor/carcinoma/cancer Tumeur/carcinome/cancer de la cavité nasale/des sinus paranasaux hrdo:sgn_id_50040 Nasopharynx neoplasm/tumor/carcinoma/cancer Neoplasia/tumor/carcinoma/cancro da nasofaringe Neoplasia/tumore/carcinoma/cancro del nasofaringe Neoplasie/Tumor/Karzinom/Krebs des Nasopharynx/Nasenrachens Neoplasma/tumor/carcinoma/cáncer nasofaríngeo Tumeur/carcinome/cancer du nasopharynx hrdo:sgn_id_50060 Neoplasia/tumor/carcinoma/cancro das glândulas salivares Neoplasia/tumore/carcinoma/cancro delle ghiandole salivari Neoplasie/Tumor/Karzinom/Krebs der Speicheldrüse Neoplasma/tumor/carcinoma/cáncer de la gándula salival Salivary gland neoplasm/tumor/carcinoma/cancer Tumeur/carcinome/cancer des glandes salivaires hrdo:sgn_id_50070 Neoplasia/tumor/carcinoma/cancro da orofaringe Neoplasia/tumore/carcinoma/cancro orofaringeo Neoplasma/tumor/carcinoma/cáncer orofaríngeo Oropharyngeal neoplasm/tumor/carcinoma/cancer Tumeur/carcinome/cancer de l'oropharynx oropharyngeale Neoplasie/Tumor/Karzinom/Krebs hrdo:sgn_id_50090 Neoplasia/tumor/carcinoma/cancro da cavidade oral/da língua Neoplasia/tumore/carcinoma/cancro della lingua/della cavità orale Neoplasie/Tumor/Karzinom/Krebs der Mundhöhle/Zunge Neoplasma/tumor/carcinoma/cáncer de la cavidad oral/lengua Oral cavity/tongue neoplasm/tumor/carcinoma/cancer Tumeur/carcinome/cancer de la cavité buccale/de la langue hrdo:sgn_id_50100 Neoplasia/tumor/carcinoma/cancro odontogénico Neoplasia/tumore/carcinoma/cancro odontogenico Neoplasma/tumor/carcinoma/cáncer odontogénico Odontogenic neoplasm/tumor/carcinoma/cancer Tumeur/carcinome/cancer odontogénique odontogene Neoplasie/Tumor/Karzinom/Krebs hrdo:sgn_id_50120 Lip neoplasm/tumor/carcinoma/cancer Neoplasia/tumor/carcinoma/cancro do lábio Neoplasia/tumore/carcinoma/cancro delle labbra Neoplasie/Tumor/Karzinom/Krebs der Lippen Neoplasma/tumor/carcinoma/cáncer labial Tumeur/carcinome/cancer de la lèvre hrdo:sgn_id_50130 Laryngeal neoplasm/tumor/carcinoma/cancer Neoplasia/tumor/carcinoma/cancro da laringe Neoplasia/tumore/carcinoma/cancro laringeo Neoplasie/Tumor/Karzinom/Krebs des Kehlkopfs Neoplasma/tumor/carcinoma/cáncer laríngeo Tumeur/carcinome/cancer du larynx hrdo:sgn_id_50150 Digestive neoplasm/tumor/carcinoma/cancer Neoplasia/tumor/carcinoma/cancro digestivo Neoplasia/tumore/carcinoma/cancro del tratto digestivo Neoplasie/Tumor/Karzinom/Krebs des Verdauungssystems Neoplasma/tumor/carcinoma/cáncer digestivo Tumeur/carcinome/cancer du tube digestif hrdo:sgn_id_50160 Esophageal neoplasm/tumor/carcinoma/cancer Neoplasia/tumor/carcinoma/cancro do esófago Neoplasia/tumore/carcinoma/cancro dell'esofago Neoplasie/Tumor/Karzinom/Krebs der Speiseröhre/Ösophagus Neoplasma/tumor/carcinoma/cáncer esofágico Tumeur/carcinome/cancer de l'œsophage hrdo:sgn_id_50180 Estomach/gastric neoplasm/tumor/carcinoma/cancer Neoplasia/tumor/carcinoma/cancro do estômago/gástrico Neoplasia/tumore/carcinoma/cancro gastrico/dello stomaco Neoplasie/Tumor/Karzinom/Krebs des Magens Neoplasma/tumor/carcinoma/cáncer de estómago/gástrico Tumeur/carcinome/cancer de l'estomac/gastrique hrdo:sgn_id_50190 Neoplasia/tumor/carcinoma/cancro do intestino delgado Neoplasia/tumore/carcinoma/cancro dell' intestino tenue Neoplasie/Tumor/Karzinom/Krebs des Dünndarms Neoplasma/tumor/carcinoma/cáncer de intestino delgado Small bowel neoplasm/tumor/carcinoma/cancer Tumeur/carcinome/cancer de l'intestin grêle hrdo:sgn_id_50210 Colon neoplasm/tumor/carcinoma/cancer Neoplasia/tumor/carcinoma/cancro do cólon Neoplasia/tumore/carcinoma/cancro del colon Neoplasie/Tumor/Karzinom/Krebs des Kolons Neoplasma/tumor/carcinoma/cáncer de colon Tumeur/carcinome/cancer du côlon/colique hrdo:sgn_id_50220 Neoplasia/tumor/carcinoma/cancro do recto/rectal Neoplasia/tumore/carcinoma/cancro rettale/del retto Neoplasie/Tumor/Karzinom/Krebs des Rektums Neoplasma/tumor/carcinoma/cáncer de recto/rectal Rectum/rectal neoplasm/tumor/carcinoma/cancer Tumeur/carcinome/cancer du rectum/rectal hrdo:sgn_id_50240 Neoplasia/tumor/carcinoma/cancro do pâncreas/pancreático Neoplasia/tumore/carcinoma/cancro pancreatico/del pancreas Neoplasie/Tumor/Karzinom/Krebs des Pankreas Neoplasma/tumor/carcinoma/cáncer pancreático Pancreatic/pancreas neoplasm/tumor/carcinoma/cancer Tumeur/carcinome/cancer du pancréas/pancréatique hrdo:sgn_id_50250 Pancreatoblastoma Pancreatoblastoma Pancreatoblastoma Pancreatoblastoma Pancréatoblastome Pankreasblastom hrdo:sgn_id_50270 Hepatic/liver neoplasm/tumor/carcinoma/cancer Neoplasia/tumor/carcinoma/cancro hepático/do fígado Neoplasia/tumore/carcinoma/cancro epatico/del fegato Neoplasie/Tumor/Karzinom/Krebs der Leber Neoplasma/tumor/carcinoma/cáncer de hígado/hepático Tumeur/carcinome/cancer du foie hrdo:sgn_id_50280 Epatoblastoma Hepatoblastom Hepatoblastoma Hepatoblastoma Hepatoblastoma Hépatoblastome hrdo:sgn_id_5030 Retinoschisi/coloboma retinico/corioretinico Retinoschisis/retinal/chorioretinal coloboma Retinoschisis/retinales/chorioretinales Kolobom Retinosquise / coloboma da retina/coriorretiniano Retinosquisis/coloboma de la retina/colomba coriorretiniana Rétinoschisis/colobome de la rétine/chorio-rétinien hrdo:sgn_id_50300 Extrahepatic biliary tract/gallbladder neoplasm/tumor/carcinoma/cancer Neoplasia/tumor/carcinoma/cancro do tracto biliar extrahepático/vesícula biliar Neoplasia/tumore/carcinoma/cancro della via biliare extraepatica/cistifellea Neoplasie/Tumor/Karzinom/Krebs der Gallenblase/extrahepatischen Gallenwege Neoplasma/tumor/carcinoma/cáncer extrahepático de tracto biliar/vesícula biliar Tumeur/carcinome/cancer des voies biliares extra-hépatiques/de la vésicule hrdo:sgn_id_50310 Neoplasia/tumor/carcinoma/cancro da traqueia Neoplasia/tumore/carcinoma/cancro della trachea Neoplasie/Tumor/Karzinom/Krebs der Trachea Neoplasma/tumor/carcinoma/cáncer traqueal Tracheal neoplasm/tumor/carcinoma/cancer Tumeur/carcinome/cancer de la trachée hrdo:sgn_id_50330 Heart/cardiac tumor Herztumor Tumeur cardiaque Tumor cardiaco/del corazón Tumor do coração/cardíaco Tumore cardiaco/del cuore hrdo:sgn_id_50340 Lung/bronchopulmonary neoplasm/tumor/carcinoma/cancer Neoplasia/tumor/carcinoma/cancro do pulmão/broncopulmonar Neoplasia/tumore/carcinoma/cancro broncopolmonare/dei polmoni Neoplasie/Tumor/Karzinom/Krebs der/des Lungen/bronchopulmonalen Systems Neoplasma/tumor/carcinoma/cáncer de pulmón/broncopulmonar Tumeur/carcinome/cancer des poumons hrdo:sgn_id_50360 Blastoma pleuropolmonare Blastoma pleuropulmonar Blastoma pleuropulmonar Blastome pleuro-pulmonaire Pleuropulmonary blastoma pleuropulmonales Blastom hrdo:sgn_id_50370 Neoplasia/tumor/carcinoma/cancro do timo/tímico Neoplasia/tumore/carcinoma/cancro timico/del timo/timoma Neoplasie/Tumor/Karzinom/Krebs des Thymus/Thymom Neoplasma/tumor/carcinoma/cáncer/timoma del timo/tímico Thymus/thymic neoplasm/tumor/carcinoma/cancer/thymoma Tumeur/carcinome/cancer du thymus/Thymome hrdo:sgn_id_50390 Breast neoplasm/tumor/carcinoma/cancer Brustkrebs/-karzinom/Mammatumor/Neoplasie des Brustgewebes Neoplasia/tumor/carcinoma/cancro da mama Neoplasia/tumore/carcinoma/cancro della mammella Neoplasma/tumor/carcinoma/cáncer de mama Tumeur/carcinome/cancer du sein hrdo:sgn_id_50400 Neoplasia/tumor/carcinoma/cancro do útero/uterino/colo do útero/endométrio Neoplasia/tumore/carcinoma/cancro dell'utero/della cervice/ dell'endometrio Neoplasma/tumor/carcinoma/cáncer de útero/uterino/cervical/endometrial Tumeur/carcinome/cancer de l'utérus/du col/de l'endomètre Uterus/uterine/cervix/endometrium neoplasm/tumor/carcinoma/cancer uterine/zervikale/endometriale Neoplasie/Tumor/Karzinom/Krebs hrdo:sgn_id_50420 Neoplasia/tumor/carcinoma/cancro do ovário/trompas de Falópio Neoplasia/tumore/carcinoma/cancro tube Falloppio/ovaie (escl.teratoma/germinoma) Neoplasie/Tumor/Karzinom/Krebs der Ovarien/Eileiter (exkl. Teratom/Germinom) Neoplasma/tumor/carcinoma/cáncer(excl.teratoma/germinoma)ovario/tromp.de Falopio Ovary/Fallopian tube neoplasm/tumor/carcinoma/cancer (excl. teratoma/germinoma) Tumeur/carcinome/cancer des ovaires/des trompes (sauf tératome/germinome) hrdo:sgn_id_50430 Ovary/ovarian teratoma/germinoma Teratoma/germinoma de ovario/ovárico Teratoma/germinoma do ovário/ovárico Teratoma/germinoma ovarico/dell'ovaio Teratome des Ovars/ovarielles Teratom/Germinom Tératome/germinome de l'ovaire hrdo:sgn_id_50450 Neoplasia/tumor/carcinoma/cancro vaginal/vulvar Neoplasia/tumore/carcinoma/cancro vulvare/vaginale Neoplasma/tumor/carcinoma/cáncer vaginal/de la vulva Tumeur/carcinome/cancer du vagin/de la vulve Vaginal/vulvar neoplasm/tumor/carcinoma/cancer vaginale/vulväre Neoplasie/Tumor/Karzinom/Krebs hrdo:sgn_id_50460 Choriocarcinoma Choriocarcinome du placenta/du throphoblaste Chorionkarzinom Coriocarcinoma Coriocarcinoma Coriocarcinoma hrdo:sgn_id_50480 Neoplasia/tumor/carcinoma/cancro da próstata/prostático Neoplasia/tumore/carcinoma/cancro prostatico/della prostata Neoplasie/Tumor/Karzinom/Krebs der Prostata Neoplasma/tumor/carcinoma/cáncer de próstata/prostático Prostate/prostatic neoplasm/tumor/carcinoma/cancer Tumeur/carcinome/cancer de la prostate/prostatique hrdo:sgn_id_50490 Neoplasia/tumor/carcinoma/cancro testicular/seminal (excl. teratoma/germinoma) Neoplasia/tumore/carcinoma/cancro seminale/testicolare (escl.teratoma/germinoma) Neoplasma/tumor/carcinoma/cáncer (excl. teratoma/germinoma) testicular Testicular/seminal neoplasm/tumor/carcinoma/cancer (excl. teratoma/germinoma) Tumeur/carcinome/cancer testicules/vésicules séminales (sauf tératome/germinome) testikuläre/seminale Neoplasie/Tumor/Karzinom/Krebs (exkl. Teratom/Germinom) hrdo:sgn_id_50510 Teratoma/germinoma testicolare Teratoma/germinoma testicular Teratoma/germinoma testicular Testicular teratoma/germinoma Tératome/germinome/séminome des testicules testikuläres Teratom/Germinom hrdo:sgn_id_50520 Neoplasia/tumor/carcinoma/cancro do pénis/escroto Neoplasia/tumore/carcinoma/cancro dello scroto/del pene Neoplasie/Tumor/Karzinom/Krebs des Penis/Skrotums Neoplasma/tumor/carcinoma/cáncer de pene/escroto Penis/scrotum neoplasm/tumor/carcinoma/cancer Tumeur/carcinome/cancer du pénis/de la verge/du scrotum hrdo:sgn_id_50540 Kidney/renal neoplasm/tumor/carcinoma/cancer Neoplasia/tumor/carcinoma/cancro do rim/renal Neoplasia/tumore/carcinoma/cancro renale/del rene Neoplasie/Tumor/Karzinom/Krebs der Niere Neoplasma/tumor/carcinoma/cáncer de riñón/renal Tumeur/carcinome/cancer du rein/rénal hrdo:sgn_id_50550 Nefroblastoma/tumor de Wilms Nefroblastoma/tumor de Wilms Nefroblastoma/tumore di Wilms Nephroblastom/Wilms-Tumor Nephroblastoma/Wilms tumor Néphroblastome/tumeur de Wilms hrdo:sgn_id_50570 Neoplasia/tumor/carcinoma/cancro ureteral/uretral/vesical/bexiga Neoplasia/tumore/carcinoma/cancro ureterale/uretrale/vescicale/della vescica Neoplasie/Tumor/Karzinom/Krebs des Ureters/Urethra/Blase Neoplasma/tumor/carcinoma/cáncer uretral/de uretra/de vesícula/de vejiga Tumeur/carcinome/cancer de l'urétère/de l'urètre/de la vessie Ureteral/urethral/vesical/bladder neoplasm/tumor/carcinoma/cancer hrdo:sgn_id_50580 Endocrine tumor Tumeurs endocrines Tumor endocrino Tumor endócrino Tumore endocrino endokriner Tumor hrdo:sgn_id_5060 Flitting flies/myiodesopsia/myodesopsia Glaskörpertrübungen/fliegenden Mücken/Myodesopsie Moscas volantes/miodesopsia/miodesopsia Moscas volantes/miodesopsia/myodesopsia Mosche volanti/miodesopsia Mouches volantes/corps flottants/myodésopsies hrdo:sgn_id_50600 Neoplasia/tumor/carcinoma/cancro da pituitária/hipofisário Neoplasia/tumore/carcinoma/cancro ipofisario/pituitario Neoplasie/Tumor/Karzinom/Krebs der Hypophyse/Hirnanhangsdrüse Neoplasma/tumor/carcinoma/cáncer pituitario/hipofisario Pituitary/hypophyseal neoplasm/tumor/carcinoma/cancer Tumeur/carcinome/cancer de l'hypophyse hrdo:sgn_id_50610 Neoplasia/tumor/carcinoma/cancro da tiróide Neoplasia/tumore/carcinoma/cancro della tiroide Neoplasie/Tumor/Karzinom/Krebs der Schilddrüse Neoplasma/tumor/carcinoma/cáncer tiroideo Thyroid neoplasm/tumor/carcinoma/cancer Tumeur/carcinome/cancer/nodule de la thyroïde hrdo:sgn_id_50630 Neoplasia/tumor/carcinoma/cancro da paratiróide Neoplasia/tumore/carcinoma/cancro della paratiroide Neoplasie/Tumor/Karzinom/Krebs der Nebenschilddrüse Neoplasma/tumor/carcinoma/cáncer paratiroideo Parathyroid neoplasm/tumor/carcinoma/cancer Tumeur/carcinome/cancer des parathyroïdes hrdo:sgn_id_50640 Adrenal neoplasm/tumor/carcinoma/cancer Nebennierentumor/-karzinom/-krebs Neoplasia/tumor/carcinoma/cancro da suprarrenal Neoplasia/tumore/carcinoma/cancro surrenale Neoplasma/tumor/carcinoma/cáncer adrenal Tumeur/carcinome/cancer des surrénales hrdo:sgn_id_50660 Feocromocitoma/paraganglioma Feocromocitoma/paraganglioma Feocromocitoma/paraganglioma Pheochromocytoma/paraganglioma Phäochromozytome/Paragangliome Phéochromocytome/paragangliome hrdo:sgn_id_50670 Medullar adrenal neoplasm/tumor/carcinoma/cancer Médullosurrénalome Neoplasia/tumor/carcinoma/cancro suprarrenal medular Neoplasia/tumore/carcinoma/cancro della midollare del surrene Neoplasie/Tumor/Karzinom/Krebs des Nebennierenmarks Neoplasma/tumor/carcinoma/cáncer de médula adrenal hrdo:sgn_id_50690 Cortical adrenal neoplasm/tumor/carcinoma/cancer Corticosurrénalome Neoplasia/tumor/carcinoma/cancro suprarrenal cortical Neoplasia/tumore/carcinoma/cancro della corticale del surrene Neoplasie/Tumor/Karzinom/Krebs der Nebennierenrinde Neoplasma/tumor/carcinoma/cáncer adrenocortical hrdo:sgn_id_50700 Neuroendocrine tumor/apudoma/carcinoid Tumeurs neuroendocrines/apudome/carcinoïde Tumor/apudoma/carcinoide neuroendocrino Tumor/apudoma/carcinóide neuroendócrino Tumore neuroendocrino/apudoma/carcinoide neuroendokriner Tumor/Apudom/Karzinoid hrdo:sgn_id_50720 Eye neoplasm/tumor/carcinoma/cancer Neoplasia/tumor/carcinoma/cancro do olho Neoplasia/tumore/carcinoma/cancro dell'occhio Neoplasie/Tumor/Karzinom/Krebs des Auges Neoplasma/tumor/carcinoma/cáncer de ojo Tumeur/carcinome/cancer de l'œil hrdo:sgn_id_50730 Retinoblastom Retinoblastoma Retinoblastoma Retinoblastoma Retinoblastoma Rétinoblastome hrdo:sgn_id_50750 Middle ear neoplasm/tumor/carcinoma/cancer Neoplasia/tumor/carcinoma/cancro do ouvido médio Neoplasia/tumore/carcinoma/cancro dell'orecchio medio Neoplasie/Tumor/Karzinom/Krebs des Mittelohrs Neoplasma/tumor/carcinoma/cáncer del oído medio Tumeur/carcinome/cancer de l'oreille moyenne hrdo:sgn_id_50760 Mesotelioma Mesotelioma Mesotelioma Mesotheliom Mesothelioma Mésothéliome hrdo:sgn_id_50780 Melanom Melanoma Melanoma Melanoma Melanoma Mélanome hrdo:sgn_id_50790 Neoplasia/tumor/carcinoma/cancro da pele/cutâneo (excluindo melanoma) Neoplasia/tumore/carcinoma/cancro cutaneo/della pelle (escl. melanoma) Neoplasie/Tumor/Karzinom/Krebs der Haut (exkl. Melanom) Neoplasma/tumor/carcinoma/cáncer de piel/cutáneo Skin/cutaneous neoplasm/tumor/carcinoma/cancer (excluding melanoma) Tumeur/carcinome/cancer de la peau/cutané (sauf mélanome) hrdo:sgn_id_50810 Cancer des cellules germinales/tératome (sauf ovaire/testicule) Germ cell malignancy/germinoma/teratoma (excluding ovary/testis) Keimzellenkrebs/Germinom/Teratom (exkl. Ovar/Testis) Neoplasia/germinoma/teratoma das células germinativas (excl. ovário/testículos) Teratoma/germinoma (excluyendo ovario/testículos) de células germinales Tumore maligno delle cellule germinali/germinoma/teratoma (escl.testicoli/ovaie) hrdo:sgn_id_50820 Sarcoma Sarcoma Sarcoma Sarcoma Sarcome Sarkom hrdo:sgn_id_50840 Sarcoma/cancro/tumor/lipossarcoma/miossarcoma dos tecidos moles Sarcoma/cancro/tumore dei tessuti molli/liposarcoma/miosarcoma Sarcoma/cáncer/tumor/liposarcoma/miosarcoma de tejido blando Sarcome/cancer/tumeur des tissus mous/liposarcome/myosarcome Soft tissue sarcoma/cancer/tumor/liposarcoma/myosarcoma Weichteilsarkom/-krebs/-tumor/Liposarkom/Myosarkom hrdo:sgn_id_50850 Kaposi's sarcoma Kaposi-Sarkom Sarcoma de Kaposi Sarcoma de Kaposi Sarcoma di Kaposi Sarcome de Kaposi hrdo:sgn_id_50870 Gastrointestinal stromal tumor Sarcome/tumeur stromale gastrointestinale Tumor do estroma gastrointestinal Tumor estromal gastrointestinal Tumore stromale gastrointestinale gastrointestinaler Stroma-Tumor hrdo:sgn_id_50880 Bone/osseous neoplasm/tumor/carcinoma/cancer Neoplasia/tumor/carcinoma/cancro do osso/ósseo Neoplasia/tumore/carcinoma/cancro osseo/delle ossa Neoplasie/Tumor/Karzinom/Krebs der Knochen Neoplasma/tumor/carcinoma/cáncer de hueso/óseo Sarcome/cancer/tumeur des os/osseuse hrdo:sgn_id_5090 Descolamento de retina Desprendimiento de retina Distacco di retina Décollement de la rétine/pli rétinien maculaire Netzhautablösung Retinal detachment hrdo:sgn_id_50900 Neoplasia/tumor vascular Tumeur/cancer d'origine vasculaire Tumor vascular Tumore maligno vascolare Vascular malignancy/tumor vaskulärer Tumor hrdo:sgn_id_50910 Central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer Neoplasia/tumor/carcinoma/cancro do sistema nervoso central/nervos periféricos Neoplasia/tumore/carcinoma/cancro dei nervi periferici/sistema nervoso centrale Neoplasma/tumor/carcinoma/cáncer de sistema nervioso central/nervios periféricos Tumeur/cancer du cerveau/du système nerveux central/des nerfs périphériques Tumor/Karzinom des Zentralen Nervensystems/Neoplasie der peripheren Nerven hrdo:sgn_id_50930 Glial tumor/glioblastoma Glioblastom Tumeur gliale/glioblastome Tumor glial/Glioblastoma Tumor glial/glioblastoma Tumore gliale/glioblastoma hrdo:sgn_id_50940 Neuroblastom Neuroblastoma Neuroblastoma Neuroblastoma Neuroblastoma Neuroblastome hrdo:sgn_id_50960 Medulloblastom Medulloblastoma Medulloblastoma Meduloblastoma Meduloblastoma Médulloblastome hrdo:sgn_id_50970 Meningiom Meningioma Meningioma Meningioma Meningioma Méningiome hrdo:sgn_id_50990 Benign tumor of the brain/nervous system Benigner Tumor des Nervensystems Tumeurs nerveuses bénignes Tumor benigno del cerebro/sistema nervioso Tumor benigno do cérebro/sistema nervoso Tumore benigno del cervello/sistema nervoso hrdo:sgn_id_51000 Bösartige Krankheiten des Blutbildenden und lymphatischen Systems Cancer hématologique/du sang/lymphatique Cancro hematológico/do sangue/linfático Cancro linfatico/ematologico/del sangue Cáncer hematológico/de la sangre/linfático Hematologic/blood/lymphatic cancer hrdo:sgn_id_51020 Linfoma Linfoma Linfoma Lymphoma Lymphome Lymphome hrdo:sgn_id_51030 Macroglobulinemia Macroglobulinemia Macroglobulinemia Macroglobulinemia Macroglobulinémie Makroglobulinämie hrdo:sgn_id_51050 Mieloma multiplo Mieloma múltiple Mieloma múltiplo Multiple myeloma Myélome multiple multiples Myelom hrdo:sgn_id_51060 Acute leukemia Leucemia acuta Leucemia aguda Leucemia aguda Leucémie aiguë akute Leukämie hrdo:sgn_id_51080 Leucemia mieloproliferativa sindrómica/crónica Myeloproliferative syndrome/chronic leukemia Sindrome mieloproliferativa/leucemia cronica Syndrome myéloprolifératif/leucémie chronique Síndrome mieloproliferativo/leucemia crónica myeloproliferatives Syndrom/chronische Leukämie hrdo:sgn_id_51090 Myelodysplastic syndrome Myelodysplastisches Syndrom Sindrome mielodisplastica Syndrome myélodysplasique Síndrome mielodisplásico Síndrome mielodisplástico hrdo:sgn_id_51110 Mastocitose Mastocitosi Mastocitosis Mastocytose Mastocytosis Mastozytose hrdo:sgn_id_51120 Histiocistose Histiocitosis Histiocystosis Histiocytose Histiozytose Istiocitosi hrdo:sgn_id_5120 Anomalias vasculares da retina / telangiectasia da retina Anomalie des vaisseaux/télangiectasies de la rétine Anomalie vascolari retiniche/teleangiectasia retinica Anomalías vasculares de la retina/telangiectasia de la retina Retinal vascular anomalies/retinal telangiectasia retinale vaskuläre Anomalien/retinale Teleangiektasie hrdo:sgn_id_5150 Albinisme de la rétine Albinismo da retina Albinismo de la retina Albinismo della retina Retinal albinism retinaler Albinismus hrdo:sgn_id_5180 Anomalia del pigmento della macula/macchia rosso ciliegia Anomalia pigmentar macular/manchas vermelho-cereja Anomalías pigmentarias de la mácula/mancha rojo cereza Macular pigmentary anomaly/cherry-red spot Pigmentanomalie der Makula/kirschroter Fleck Tache rouge cerise sur la macula hrdo:sgn_id_52000 Anomalia cromossómica ou genética Anomalia genetica o cromosomica Anomalie génique ou chromosomique Anomalía cromosómica o genética Chromosomal or genetic anomaly Chromosomenanomalie oder genetische Störung hrdo:sgn_id_52060 Autosomal dominant inheritance Hereditariedade autossómica dominante Herencia autosómica dominante Transmission autosomique dominante Trasmissione autosomica dominante autosomal-dominante Vererbung hrdo:sgn_id_5210 Amartoma retinico Hamartoma da retina Hamartoma de la retina Hamartomes rétiniens Retinal hamartoma retinales Hamartom hrdo:sgn_id_52120 Autosomal recessive inheritance Hereditariedade autossómica recessiva Herencia autosómica recesiva Transmission autosomique récessive Trasmissione autosomica recessiva autosomal-rezessive Vererbung hrdo:sgn_id_52180 Hereditariedade ligada ao X dominante Herencia dominante ligada al cromosoma X Transmission dominante liée a l'X Trasmissione dominante legata all'X X-chromosomal-dominante Vererbung X-linked dominant inheritance hrdo:sgn_id_52240 Hereditariedade ligada ao X recessiva Herencia recesiva ligada al cromosoma X Transmission récessive liée a l'X Trasmissione recessiva legata all'X X-chromosomal-rezessive Vererbung X-linked recessive inheritance hrdo:sgn_id_52300 Hereditariedade poligénica/multifactorial Herencia multifactorial/poligénica Polygenic/multifactorial inheritance Transmission polygénique /polyfactorielle/multifactorielle Trasmissione poligenica/multifattoriale polygene/multifaktorielle Vererbung hrdo:sgn_id_52360 Duplicazione/trisomia parziale/totale Total/partial trisomy/duplication Trisomie/duplication totale/partielle Trisomía/duplicación total/parcial Trissomia/duplicação total/parcial komplette/partielle Trisomie/Duplikation hrdo:sgn_id_5240 Coloboma macular Coloboma maculare Colobome de la macula/colobome maculaire Colomba de la mácula Macular coloboma Makulakolobom hrdo:sgn_id_52420 Deleción/monosomía total/parcial Delezione/monosomia parziale/totale Monosomie/délétion totale/partielle Monossomia/deleção total/parcial Total/partial monosomy/deletion komplette/partielle Monosomie/Deletion hrdo:sgn_id_52480 Deleción/microdeleción intersticial/subtelomérica Insterstitial/subtelomeric microdeletion/deletion Microdelezione/delezione subtelomerica/interstiziale Microdeleção/deleção instersticial/subtelomérica Microdélétion /délétion interstitielle/délétion subtélomérique interstitielle Deletion/subtelomere Mikrodeletion hrdo:sgn_id_52540 Cassures chromosomiques à répétition Chromosome breakage Chromosomenbrüchigkeit Quebra cromossómica Rottura cromosomica Rotura cromosómica hrdo:sgn_id_52600 Fragile chromosomal site (other than Xq28) Local cromossómico frágil (excluindo Xq28) Site fragile d'un chromosome autre que X Sitio cromosómico frágil (diferente de Xq28) Sito cromosomico fragile (diverso da Xq28) fragile Stelle am X-Chromosom (außer Xq28) hrdo:sgn_id_52660 Cromosoma X frágil Fragile chromosome X site Local frágil do cromossoma X Site fragile de l'X Sito fragile del cromosoma X fragile Stelle am X-Chromosom hrdo:sgn_id_5270 Retinopathie Retinopathy Retinopatia Retinopatia Retinopatía Rétinopathie hrdo:sgn_id_52720 Anomalia dell'imprinting genomico Anomalia do imprinting genómico Anomalie de l'empreinte génomique Anomalie des genomischen Imprintings Anomalía de la impronta genómica Genomic imprinting anomaly hrdo:sgn_id_5300 Retinite pigmentar/alterações pigmentares da retina Retinite pigmentosa/alterazioni pigmentarie retiniche Retinitis pigmentaria/cambios en la pigmentación de la retina Retinitis pigmentosa/retinal pigmentary changes Retinitis pigmentosa/retinale Pigmentveränderungen Rétinite pigmentaire hrdo:sgn_id_53000 Anomalias da constituição/estatura/longevidade Anomalie della corporatura/statura/longevità Anomalies de la stature/de la morphologie/de la longévité Anomalías en complexión/estatura/longevidad Build/stature/longevity anomalies Gestalt/Körperbau/Lebensdauer- Anomalie hrdo:sgn_id_53050 Atrofia (excluyendo lipodistrofia)/desarrollo muscular/caquexia Corpo deperito (lipodistrofia esclusa)/con muscolatura scarsa/cachessia Maigreur (autre que lipodystrophie)/état cachectique Perda de peso (excluindo lipodistrofia)/composição muscular fraca/caquexia Wasted (excluding lipodystrophy)/poorly muscled build/cachexy magerer Körperbau/unterentwickelte Muskeln/Kachexie hrdo:sgn_id_53100 Adipositas/Fettsucht Generalized obesity Obesidad generalizada Obesidade generalizada Obesità generalizzata Obésité généralisée hrdo:sgn_id_53150 Obesidad truncal Obesidade troncular Obesità troncale Obésité localisée Stammfettsucht Truncal obesity hrdo:sgn_id_53200 Abnormal fat distribution/lipodystrophy Anomale Körperfettverteilung/Lipodystophie Distribución anormal de grasa/lipodistrofia Distribuição anormal da gordura/lipodistrofia Distribuzione anomala del grasso/lipodistrofia Répartition anormale des graisses/du tissu adipeux/lipodystrophie hrdo:sgn_id_53250 Estatura alta/gigantismo/aceleração de crescimento Grande taille/gigantisme/accélération de la croissance/avance staturo-pondérale Hochwuchs/Gigantismus/beschleunigtes Wachstum Statura alta/gigantismo/crescita accelerata Tall stature/gigantism/growth acceleration Talla alta/gigantismo/aceleración del crecimiento hrdo:sgn_id_5330 Displasia/distrofia da retina/coriorretiniana Displasia/distrofia de la retina/coriorretiniana Displasia/distrofia retinica/corioretinica Dysplasie rétinienne/chorio-rétinienne/dystrophie rétinienne Retinal/chorioretinal dysplasia/dystrophy retinale/chorioretinale Dysplasie/Dystrophie hrdo:sgn_id_53300 Acromegalia Acromegalia Acromegalia Acromegaly Acromégalie Akromegalie hrdo:sgn_id_53350 Baixa estatura/nanismo Kleinwuchs Petite taille/nanisme Short stature/dwarfism/nanism Statura bassa/nanismo Talla baja/enanismo hrdo:sgn_id_53400 Asimetría del cuerpo/hemiatrofia/hemihipertrofia Asimmetria del corpo/emiatrofia/emi-ipertrofia Assimetria do corpo/hemiatrofia/hemihipertrofia Asymmetrie/Hemiatrophie/Hemihypertrophie des Körpers Asymmetry of the body/hemiatrophy/hemihyperthrophy Asymétrie corporelle/hémiatrophie/hémihypertrophie hrdo:sgn_id_53450 Dificuldades de alimentação na infência / atraso de crescimento Disturbi crescita/difficoltà alimentazione nella prima infanzia/ritardo crescita Failure to thrive/difficulties for feeding in infancy/growth delay Gedeihstörungen/Stillprobleme/Wachstumsverzögerung Retard de croissance/difficulté d'élevage/retard staturo-pondéral Retraso en el desarrollo-crecimiento/dificultades para alimentarse en infancia hrdo:sgn_id_53500 Early death/lethality Mort prématurée/létalité Morte prematura/letalidade Morte/letalità precoce Muerte temprana/letalidad frühzeitiger Tod/Letalität hrdo:sgn_id_53550 Mort néonatale/mort périnatale Morte neonatale/nascita di un bimbo morto Nado morto/morte neonatal Parto de feto muerto/muerte prenatal Stillbirth/neonatal death Totgeburt/Tod im Neugeborenenalter hrdo:sgn_id_5360 Distrofia macular / ausência/hipoplasia da mácula Distrofia maculare/assenza/ipoplasia della macula Distrofia/ausencia/hipoplasia de la mácula Dystrophie maculaire/absence de macula/hypoplasie maculaire Macular dystrophy/absence/hypoplasia of the macula Makuladystrophie/Makulahypoplasie/fehlende Makula hrdo:sgn_id_53600 Death in infancy Mort dans l'enfance Morte na infância Morte nella prima infanzia Muerte durante la infancia fühzeitiger Tod (Kindheit) hrdo:sgn_id_53650 Early death in adulthood Mort prématurée chez l'adulte Morte precoce in età adulta Morte prematura na idade adulta Muerte temprana en la edad adulta frühzeitiger Tod (Erwachsenenalter) hrdo:sgn_id_53700 Envejecimiento prematuro Envelhecimento prematuro Invecchiamento precoce Premature ageing Sénilité précoce/vieillissement prématuré vorzeitige Alterung hrdo:sgn_id_53750 Biótipo cushingóide Cushingoid morphotype Morfotipo cushingoide Morfotipo cushingoide Morphotype cushingoïde cushingoider Körperbau hrdo:sgn_id_53800 Biótipo marfanóide Marfanoid morphotype Morfotipo marfanoide Morfotipo marfanoide Morphotype marfanoïde marfanoider Phänotyp hrdo:sgn_id_53850 Biótipo eunocóide Eunochoid morphotype Morfotipo eunucoide Morfotipo eunucoide Morphotype eunuchoïde eunuchoider Körperbau hrdo:sgn_id_5390 Anomalia dei nervi ottici/atrofia ottica/anomalia della papilla Anomalia do nervo óptico / atrofia óptica / anomalia da papila Anomalie du nerf optique/atrophie optique/anomalie de la papille Anomalía del nervio óptico/atrofia óptica/anomalía de la papila Optic nerve anomaly/optic atrophy/anomaly of the papilla Sehnervanomalie/Optikusatrophie/Papillenanomalie hrdo:sgn_id_54000 Anomalias no estado de saúde Anomalie dello stato di salute Anomalie des Gesundheitsstatus Anomalies de l'état général Anomalías en el estado de salud Health status anomalies hrdo:sgn_id_54070 Amaigrissement/perte d'appétit/cassure courbe de poids/altération état général Gewichtsverlust/Appetitlosigkeit/Wachstumsstörung/generelle Gesundheitsstörung Perda de peso/apetite / cruzamento de percentis / alteração na saúde geral Perdita peso/perdita appetito/variazione curva peso/alterazione salute generale Pérdida de peso y apetito/cambio en la curva de peso/alteración general de salud Weight loss/loss of appetite/break in weight curve/general health alteration hrdo:sgn_id_54140 Febbre/raffreddamento Febre/arrepios Fever/chilling Fiebre/escalofríos Fièvre/épisodes fébriles/frissons Schüttelfrost/Fieber hrdo:sgn_id_5420 Coloboma del nervo ottico Coloboma do nervo óptico Coloboma of the optic nerve Colobome du nerf optique Colomba del nervio óptico Kolobom des Sehnervs hrdo:sgn_id_54210 Durst Sed Sede Sete Soif Thirst hrdo:sgn_id_54280 Dehydration/hydroelectrolytic loss Dehydration/hydroelektrolytischer Verlust Deshidratación/pérdida hidroelectrolítica Desidratação/perda hidroelectrolítica Disidratazione/perdita idroelettrolitica Déshydratation/pertes hydroélectrolytiques hrdo:sgn_id_54350 Astenia/affaticamento/debolezza Astenia/fadiga/fraqueza Astenia/fatiga/debilidad Asthenia/fatigue/weakness Asthenie/Fatigue/Müdigkeit/Schwäche Asthénie/fatigue/sensation de faiblesse hrdo:sgn_id_54420 Blässe Palidez Palidez Pallor Pallore Pâleur hrdo:sgn_id_54490 Afrontamentos / sensação de frio Bouffées de chaleur/sensation de froid Calores/sensación de frío Hot flushes/sensation of cold Vampe di calore/sensazione di freddo fliegende Hitze/Kältegefühl hrdo:sgn_id_5450 Cécité/amblyopie Perda de visão/cegueira/ambliopia Perdita della vista/cecità/ambliopia Pérdida visual/ceguera/ambliopía Visual loss/blindness/amblyopia Visusverlusst/Blindheit/Amblyopie hrdo:sgn_id_54560 Hipotermia Hipotermia Hypothermia Hypothermie Hypothermie Ipotermia hrdo:sgn_id_54630 Hipertermia maligna Hipertermia maligna Hyperthermie maligne Ipertermia maligna Malignant hyperthermia maligne Hyperthermie hrdo:sgn_id_54700 Sepsi grave/setticemia Sepsis grave/septicémie Sepsis severa/septicemia Sepsis severe/septicemia Sépsis grave/septicémia schwere Sepsis/Septikämie hrdo:sgn_id_54770 Biological inflammatory syndrome/increased erythrocyte sedimentation rate/CRP Biologisches Inflammat. Syndrom/erhöhte Erythrozyten Sedimentationsrate/CRP Sindrome infiammatoria biologica/livelli elevati sedimentazione eritrociti/CRP Syndrome inflammatoire biologique/vitesse de sédimentation/CRP augmentée Síndrome biológico inflamatorio/tasa sedimentación eritrocítica aumentada/CRP Síndrome inflamatório/velocidade de sedimentação eritrocitária aumentada/PCR hrdo:sgn_id_5480 Amaurose transitoire/troubles aigus de la vision Amaurose transitória/problemas visuais agudos Amaurosi transitoria/disturbo della vista di tipo acuto Amaurosis fugaz/problema agudo de visión Transient amaurosis/acute visual trouble transiente Amaurose/akute Seheinschränkungen hrdo:sgn_id_54840 Angio-œdème/angioedème/œdème angioneurotique Angioedema/angioneurotic edema Angioedema/edema angioneurotico Angioedema/edema angioneurótico Angioedema/edema angioneurótico Angioödem/angioneurotisches Ödem hrdo:sgn_id_55000 Anomalias do período pré-natal/gravidez Anomalie del periodo prenatale/della gravidanza Anomalien in der vorgeburtlichen Phase/Schwangerschaft Antenatal period/pregnancy anomalies Histoire anténatale anormale/Anomalies de la grossesse Periodo prenatal/anomalías en el embarazo hrdo:sgn_id_55020 Clarté nucale anormale Increased nuchal translucency Translucencia nucal aumentada Translucenza nucale aumentata Translucência da nuca aumentada erhöhte Nackentransparenz hrdo:sgn_id_55040 Oligoamnios Oligoamnios Oligoamnios Oligohydramnion Oligoidramnios Oligoâmnios hrdo:sgn_id_55060 Hydramnios Polidramnios Polihidramnios Polihidrâmnios Polyhydramnion Polyhydramnios hrdo:sgn_id_55080 Fetal immobility/abnormal fetal movements Immobilità fetale/movimenti fetali anomali Immobilité fœtale/mouvements fœtaux anormaux Imobilidade fetal/movimentos fetais anormais Inmovilidad fetal/movimientos fetales anormales fetale Immobilität/Bewegungsstörungen des Fetus hrdo:sgn_id_5510 Cecità notturna/emeralopia Cegueira noturna/hemeralopia Ceguera nocturna/hemeralopía Cécité nocturne/héméralopie Nachtblindheit/Hemeralopie Night blindness/hemeralopia hrdo:sgn_id_55100 Atraso no crescimento intrauterino Intrauterine growth retardation Retard de croissance intra-utérin/RCIU Retraso del crecimiento intrauterino Ritardo della crescita intrauterina vorgeburtliche Wachstumsverzögerung hrdo:sgn_id_55120 Frühgeburtlichkeit Prematuridad Prematuridade Prematurity Prematurità Prématurité/accouchement prématuré hrdo:sgn_id_55140 Aborti spontanei Aborto espontâneo Abortos espontáneos Fausses-couches/avortements spontanés Spontaneous abortions spontaner Abort hrdo:sgn_id_55160 Anasarque fœto-placentaire/hydrops fetalis Hidropesía fetal Hidrópsia fetal Hydrops fetalis Hydrops fetalis Idrope fetale hrdo:sgn_id_55180 Antenatal exposure to infectious agent Esposizione prenatale ad agente infettivo Exposición prenatal a agentes infecciosos Exposition anténatale : agent infectieux Exposição pré-natal a agente infeccioso vorgeburtliche Exposition: Infektion hrdo:sgn_id_55200 Antenatal exposure : toxoplasmosis Esposizione prenatale : toxoplasmosi Exposición prenatal: toxoplasmosis Exposition anténatale : toxoplasmose Exposição pré-natal: toxoplasmose vorgeburtliche Exposition: Toxoplasmose hrdo:sgn_id_55220 Antenatal exposure : cytomegalovirus Esposizione prenatale : citomegalovirus Exposición prenatal: citomegalovirus Exposition anténatale : cytomégalovirus Exposição pré-natal: citomegalovirus vorgeburtliche Exposition: Zytomegalie hrdo:sgn_id_55240 Antenatal exposure : syphilis Esposizione prenatale : sifilide Exposición prenatal: sífilis Exposition anténatale : syphilis Exposição pré-natal: sífilis vorgeburtliche Exposition: Syphilis hrdo:sgn_id_55260 Antenatal exposure : rubella Esposizione prenatale : rosolia Exposición prenatal:rubeola Exposition anténatale : rubéole Exposição pré-natal: rubela vorgeburtliche Exposition: Röteln hrdo:sgn_id_55280 Antenatal exposure : hepatitis Esposizione prenatale : epatite Exposición prenatal: hepatitis Exposition anténatale : hépatite Exposição pré-natal: hepatite vorgeburtliche Exposition: Hepatitis hrdo:sgn_id_55300 Antenatal exposure : influenza Esposizione prenatale : influenza Exposición prenatal: gripe Exposition anténatale : grippe Exposição pré-natal: influenza vorgeburtliche Exposition: Grippe hrdo:sgn_id_55320 Antenatal exposure : AIDS Esposizione prenatale : AIDS Exposición prenatal: SIDA Exposition anténatale : sida Exposição pré-natal: HIV/SIDA vorgeburtliche Exposition: AIDS hrdo:sgn_id_55340 Antenatal exposure : varicella Esposizione prenatale : varicella Exposición prenatal: varicela Exposition anténatale : varicelle Exposição pré-natal: varicela vorgeburtliche Exposition: Windpocken hrdo:sgn_id_55360 Antenatal exposure : ionizing radiations Esposizione prenatale : radiazioni ionizzanti Exposición prenatal: radiaciones ionizantes Exposition anténatale: radiations ionisantes Exposição pré-natal: radiações inozantes vorgeburtliche Exposition: ionisierende Strahlung hrdo:sgn_id_55380 Antenatal exposure : chemical product Esposizione prenatale : prodotto chimico Exposición prenatal: productos químicos Exposition anténatale : produit chimique Exposição pré-natal: produto químico vorgeburtliche Exposition: chemische Substanz hrdo:sgn_id_5540 Déficit modéré de la vision/baisse de l'acuité visuelle Mild visual loss/impaired visual acuity Perda de visão ligeira / acuidade visual diminuida Perdita moderata della vista/deficit dell'acuità visiva Pérdida visual leve/agudeza visual deficiente Visusverminderung/eingeschränkte Sehschärfe hrdo:sgn_id_55400 Antenatal exposure : antibiotics Esposizione prenatale : antibiotici Exposición prenatal: antibióticos Exposition anténatale : antibiotiques/sulfamides Exposição pré-natal: antibióticos vorgeburtliche Exposition: Antibiotika hrdo:sgn_id_55420 Antenatal exposure : sedatives Esposizione prenatale : sedativi Exposición prenatal: sedantes Exposition anténatale : sédatifs Exposição pré-natal: sedativos vorgeburtliche Exposition: Sedativa hrdo:sgn_id_55440 Antenatal exposure : anticonvulsants Esposizione prenatale : anticonvulsivanti Exposición prenatal: anticonvulsivos Exposition anténatale : anticonvulsivants Exposição pré-natal: anticonvulsivos vorgeburtliche Exposition: Antiepileptika hrdo:sgn_id_55460 Antenatal exposure : iodures Esposizione prenatale : ioduri Exposición prenatal: ioduros Exposition anténatale : iodures Exposição pré-natal: iodetos vorgeburtliche Exposition: Jodverbindungen hrdo:sgn_id_55480 Antenatal exposure : anticoagulants Esposizione prenatale : anticoagulanti Exposición prenatal: anticoagulantes Exposition anténatale : anticoagulants Exposição pré-natal: anticoagulantes vorgeburtliche Exposition: Antokoagulantien hrdo:sgn_id_55500 Antenatal exposure : insuline Esposizione prenatale : insulina Exposición prenatal: insulina Exposition anténatale : insuline Exposição pré-natal: insulina vorgeburtliche Exposition: Insulin hrdo:sgn_id_55520 Antenatal exposure : hormones Esposizione prenatale : ormoni Exposición prenatal: hormonas Exposition anténatale : hormones Exposição pré-natal: hormonas vorgeburtliche Exposition: Hormone hrdo:sgn_id_55540 Antenatal exposure : alcohol Esposizione prenatale : alcool Exposición prenatal: alcohol Exposition anténatale : alcool Exposição pré-natal: álcool vorgeburtliche Exposition: Alkohol hrdo:sgn_id_55560 Antenatal exposure : cocaine/LSD Esposizione prenatale : cocaina/LSD Exposición prenatal: cocaína/LSD Exposition anténatale : cocaïne/LSD/morphine Exposição pré-natal: cocaína/LSD vorgeburtliche Exposition: Kokain/LSD hrdo:sgn_id_55580 Antenatal exposure : antimitotics Esposizione prenatale : antimitotici Exposición prenatal: antimitóticos Exposition anténatale : antimitotiques Exposição pré-natal: antimitóticos vorgeburtliche Exposition: Zytostatika hrdo:sgn_id_55600 Diabete materno Diabetes gestacional Diabetes materna Diabète maternel Maternal diabetes mütterlicher Diabetes hrdo:sgn_id_55620 Hipertensión materna/eclampsia/preeclampsia/toxemia gravídica Hipertensão materna/eclampsia/preeclampsia/toxemia gravídica Hypertension artérielle maternelle/éclampsie/prééclampsie/toxémie gravidique Ipertensione/eclampsia/pre-eclampsia materna/tossiemia gravidica Maternal hypertension/eclampsia/preeclampsia/gravidic toxemia mütterlicher Bluthochdruck/Eklampsie/Präeklampsie hrdo:sgn_id_55640 Hiperfenilalaninemia materna Hiperfenilalaninemia materna Hyperphénylalaninémie maternelle Iperfenilalaninemia materna Maternal hyperphenylalaninemia mütterliche Hyperphenylalaninämie hrdo:sgn_id_55660 Convulsiones maternas Convulsioni materne Convulsões maternas Epilepsie maternelle Maternal seizures mütterliche Epilepsie hrdo:sgn_id_55680 Gemelaridade (tipo desconhecido) Gemelos (tipo desconocido) Gravidanza gemellare (di tipo non noto) Gémellité type inconnu Twinning (type unknown) Zwillinge (Typ nicht bekannt) hrdo:sgn_id_5570 Achromatopsia/dyschromatopsia/daltonism/impaired colour vision Achromatopsie/Dyschromatopsie/Daltonismus/Farbenblindheit Achromatopsie/dyschromatopsie/daltonisme/troubles de la vision des couleurs Acromatopsia/discromatopsia/daltonismo/anomalie nella visione dei colori Acromatopsia/discromatopsia/daltonismo/visión de los colores deficiente Acromatopsia/discromatopsia/daltonismo/visão das cores comprometida hrdo:sgn_id_55700 Gemelos monocigóticos Gravidanza gemellare monozigote Gémellité monozygote Gémeos monozigóticos Monozygotic twinning eineiige Zwillinge hrdo:sgn_id_55720 Dizygotic twinning Gemelos dicigóticos Gravidanza gemellare dizigote Gémellité dizygote Gémeso dizigóticos zweieiige Zwillinge hrdo:sgn_id_55740 Conjoined twinning Gemelos siameses Gravidanza gemellare congiunta Gémeos conjuntos/siameses Siamois/monstre double siamesische Zwillinge hrdo:sgn_id_5600 Hipermetropia Hipermetropía Hypermetropia Hypermétropie/hyperopie Hyperopie/Weitsichtigkeit Ipermetropia hrdo:sgn_id_5630 Miopia Miopia Miopía Myopia Myopie Myopie/Kurzsichtigkeit hrdo:sgn_id_5660 Astigmatism Astigmatisme Astigmatismo Astigmatismo Astigmatismo Astigmatismus hrdo:sgn_id_5690 Diplopia/double vision Diplopia/visione doppia Diplopia/visão dupla Diplopie/Doppelsichtigkeit Diplopie/vision double/vision déformée Diplopía/visión doble hrdo:sgn_id_5720 Fotofobia Fotofobia Fotofobia Photophobia Photophobie Photophobie hrdo:sgn_id_5750 Abnormal ERG/electroretinogram/electroretinography Anomalie all'ERG/elettroretinogramma/elettroretinografia ERG anormal/électrorétinogramme anormal/électrorétinographie anormale ERG/electrorretinograma/electrorretinografía anómala ERG/eletroretinograma/eletrorretinografia anormal auffällige(s) ERG/Elektroretinogramm/Elektroretinographie hrdo:sgn_id_5780 Abnormal VEP/Visual evoked potential PEV anormal/potentiels évoqués visuels anormaux PEV/Potenziali Evocati Visivi anomali PEV/potenciais evocados visuais anormais VEP/potenciales evocados visuales anómalos auffällige VEP/visuell evozierte Potentiale hrdo:sgn_id_5810 Abnormal visual field/hemianopsia/hemianopia/scotoma/visual peripheral rim Anomalia do campo visual/hemianopsia/hemianopia/escotoma/aro visual periférico Anomalie campo visivo/margini del campo periferico/emianopsia/emianopia/scotoma Campo visual anómalo/hemianopsia/hemiopía/escotoma/borde visual periférico Champ de vision anormal/rétrécissement concentrique/scotome/hémianopsie Gesichtsfeldeinschränkungen/Hemianopsie/Skotom/peripherer Gesichtsfeldausfall hrdo:sgn_id_5840 Abnormal eye movements/oculomotor disorder Anomale Augenbewegung/okulomotorische Störung Movimenti anomali dell'occhio/disturbo oculomotorio Movimentos oculares anormais / doença oculomotora Movimientos anómalos de los ojos/enfermedad oculomotora Troubles oculomoteurs/mouvements anormaux des yeux hrdo:sgn_id_5870 Estrabismo Estrabismo/bizquera Strabisme Strabismo Strabismus/Schielen Strabismus/squint hrdo:sgn_id_5900 Nistagmo Nistagmo Nistagmo Nystagmus Nystagmus Nystagmus/secousses oculaires hrdo:sgn_id_5930 Oftalmoplegia/oftalmoparesi/paralisi oculomotoria Oftalmoplegia/oftalmoparesia/parésia oculomotora Oftalmoplejía/paresia oculomotora/parálisis oculomotora Ophtalmoplégie/ophtalmoparésie/paralysies oculomotrices Ophthalmoplegia/ophthalmoparesis/oculomotor palsy Ophthalmoplegie/Augenmuskellähmung/okulomotorische Parese hrdo:sgn_id_5960 Aprassia oculomotoria/disprassia Apraxia/dispraxia oculomotora Apraxia/dispraxia oculomotora Apraxie/dyspraxie oculomotrice Oculomotor apraxia/dyspraxia okulomotorische Apraxie/Dyspraxie hrdo:sgn_id_6000 Anomalias das sobrancelhas Anomalie delle sopracciglia Anomalie der Augenbrauen Anomalie des sourcils Anomalías de cejas Eyebrows anomalies hrdo:sgn_id_6100 Absent/decreased/thin eyebrows Cejas ausentes/escasas/finas Sobrancelhas ausentes/diminuidas/finas Sopracciglia assenti/rade/sottili Sourcils clairsemés/absents/fins dünne/fehlende Augenbrauen hrdo:sgn_id_6200 Cejas espesas/tupidas Sobrancelhas grossas/espessas Sopracciglia spesse/folte Sourcils fournis/épais Thick/bushy eyebrows dichte/buschige Augenbrauen hrdo:sgn_id_6300 Sinofria Sinofris Sinófrio Synophris/synophrys Synophris/synophrys Synophrys hrdo:sgn_id_6400 Cejas altas y arqueadas High arched eyebrows Sobrancelhas arqueadas Sopracciglia ad arcata alta Sourcils en accent circonflexe bogenförmige Augenbrauen hrdo:sgn_id_6500 Cejas desflecadas Flared eyebrows Flaring delle sopracciglia Sobrancelhas rarefeitas Sourcils à la diable breite/dicke Augenbrauen hrdo:sgn_id_6600 Assottigliamento laterale delle sopracciglia Disminución lateral de las cejas Lateral thinning of eyebrows Queue du sourcil absente/fine Sobrancelhas estreitas lateralmente lateral hypoplastische Augenbrauen hrdo:sgn_id_6700 Cejas más oscuras de lo esperado Darker than expected eyebrows Sobrancelhas escurecidas Sopracciglia più scure del previsto Sourcils foncés (comparés aux cheveux) auffällig dunkle Augenbrauen hrdo:sgn_id_7000 Anomalias das pálpebras, pestanas e do sistema lacrimal Anomalie delle palpebre, delle ciglia e del sistema lacrimale Anomalie der Augenlider, Wimpern und des lakrimalen Systems Anomalie des paupières, des cils et des voies lacrymales Anomalies of eyelids, eyelashes and lacrimal system Anomalías de párpados, pestañas y sistema lagrimal hrdo:sgn_id_7050 Criptoftalmia/anchiloblefaron/sinblefaron Criptoftalmia/anquilobléfaro/simbléfaro Criptoftalmía/anquilobléfaron/simbléfaron Cryptophtalmie/ankyloblépharon/symblépharon Cryptophthalmia/ankyloblepharon/synblepharon Kryptophthalmie/Ankyloblepharon/Synblepharon hrdo:sgn_id_7100 Ptose Ptosi Ptosis Ptosis Ptosis Ptosis/chute des paupières hrdo:sgn_id_7150 Blefarofimose/fissuras palpebrais curtas Blefarofimosi/rime palpebrali corte Blefarofimosis/apertura palpebral pequeña Blepharophimose/kurze Augenlidspalte Blepharophimosis/short palpebral fissures Blépharophimosis/fente palpébrale rétrécie hrdo:sgn_id_7200 Epicanthic folds Epicanthus Epicanto Epikanthus Pieghe epicantiche Pliegues epicánticos hrdo:sgn_id_7250 Telecanthus/canthal dystopy Telecanto/distopia cantal Telecanto/distopia cantal Telecanto/distopia cantale Telekanthus Télécanthus/dystopie des canthi hrdo:sgn_id_7300 Augenlidkolobom Coloboma da pálpebra Coloboma delle palpebre Coloboma of the eyelid Coloboma palpebral Colobome de la paupière/colobome palpébral hrdo:sgn_id_7350 Palpebre gonfie Paupières épaisses Puffy eyelids Pálpebras espessas Párpados hinchados geschwollene Augenlider hrdo:sgn_id_7400 Ectropion de la paupière/entropion/éversion de la paupière inférieure Ectropion/entropion/eversione delle palpebre Ectropion/entropion/eyelid eversion Ectropión/entropión/eversión del párpado Ectrópio/entrópio/eversão das pálpebras Ektropion/Entropium/Eversion des Augenlids hrdo:sgn_id_7450 Microblefaro/ablefaro/ablefara/ausência de pálpebras Microblefaron/ablefaron/ablefaria/assenza delle palpebre Microblepharon/ablepharon/ablephara/eyelid absence Microbléfaron/abléfaron/ablefaria/ausencia de párpados Microblépharie/ablépharie/absence de paupière Mikroblepharon/Ablepharon/Ablepharie/fehlendes Augenlid hrdo:sgn_id_7500 Blefarite/infiammazione delle palpebre Blefarite/inflamação da pálpebra Blefaritis/inflamación del párpado Blepharitis/Lidrandentzündung Blepharitis/eyelid inflammation Inflammation de la paupière/blépharite hrdo:sgn_id_7550 Lagoftalmia/occlusione parziale delle palpebre Lagoftalmia/oclusão parcial da pálpebra Lagoftalmía/oclusión palpebral parcial Lagophtalmie/occlusion palpébrale incomplète Lagophthalmia/partial palpebral occlusion Lagophthalmus/partiell unvollständiger Lidschluss hrdo:sgn_id_7600 Euriblefaro/fissuras palpebrais largas Euriblefaron/rime palpebrali larghe Euribléfaron/fisuras palpebrales anchas Euryblepharon/verlängerte Lidachse Euryblepharon/wide palpebral fissures Fentes palpébrales larges/euryblépharon hrdo:sgn_id_7650 Edema palpebral/edema periorbital Edema palpebrale/edema periorbitale Edema palpebrar / edema periorbitário Palpebral edema/periorbital edema palpebrales Ödem/periorbitales Ödem Œdème de la paupière/œdème périorbitaire hrdo:sgn_id_7700 Ciglia lunghe/spesse/curve/tricomegalia/politrichia Cils longs/épais/recourbés/trichomégalie/polytrichie Long/thick/curved lashes/trichomegaly/polytrichia Pestanas longas/finas/curvas / tricomegalia/politriquia Pestañas curvadas/espesas/largas/tricomegalia/politriquia lange/dicke/gebogene Augenwimpern/Trichomegalie/Polytrichie hrdo:sgn_id_7750 Distichiasi/doppia fila di ciglia Distichiasis/doppelte Wimpernreihen Distichiasis/double rangée de cils Distichiasis/double row of lashes Distiquíase/dupla fila de pestanas Distriquiasis/hilera doble de pestañas hrdo:sgn_id_7800 Absent/decreased lashes Ciglia assenti/rade Cils absents/clairsemés Pestanas ausentes/diminuidas Pestañas ausentes/escasas spärliche/fehlende Wimpern hrdo:sgn_id_7850 Anomalie des lakrimalen Systems Anomalie des voies lacrymales Defect/anomaly of lacrimal system Defectos/anomalías del sistema lagrimal Defeito/anomalia do sistema lacrimal Difetto/anomalia del sistema lacrimale hrdo:sgn_id_8000 Anomalias do nariz e do olfato Anomalie del naso e dell'olfatto Anomalien der Nase und des olfaktorischen Systems Anomalies du nez et de l'olfaction Anomalies of nose and olfaction Anomalías de nariz y olfato hrdo:sgn_id_8030 Atrofia nasal/hipoplasia/arrinia/nariz rudimentaria Atrofia/hipoplasia nasal / arrinia / nariz rudimentar Atrofia/ipoplasia nasale/arinia/naso rudimentale Atrophie nasale/hypoplasie du nez /arhinie/nez rudimentaire Atrophie/Hypoplasie der Nase/Arhinie/rudimentäre Nase Nasal atrophy/hypoplasia/arhinia/rudimentary nose hrdo:sgn_id_8060 Bulbo olfatorio largo/grande Long/large/bulbous nose Nariz longo/largo/bolboso Naso lungo/largo/bulboso Nez long/gros/en bulbe lange/große/plumpe Nase hrdo:sgn_id_8090 Broad nose/nasal bridge Nariz/ponte nasal larga Nariz/puente nasal ancho Nez large Ponte nasale/naso largo breite Nase/Nasenrücken hrdo:sgn_id_8120 Narrow nasal bridge Nez mince/arête nasale large Ponte nasal estreita Ponte nasale stretto Puente nasal estrecho schmale Nase hrdo:sgn_id_8150 Nariz corta/pequeña Nariz curto/pequeno Naso piccolo/corto Nez court/nez petit Short/small nose kurze/kleine Nase hrdo:sgn_id_8180 Flattened nose Nariz achatado Nariz plana Naso piatto Nez plat flache Nase hrdo:sgn_id_8210 Bifid tip/cleft nose/supernumerary nose Nez bifide/pointe du nez bifide/nez surnuméraire Ponta bifida / fenda do nariz / nariz supranumerário Punta bifida/schisi del naso/naso soprannumerario Punta de la nariz bífida/nariz hendida/supernumeraria zweigeteilte/gespaltene Nase/überzählige Nase hrdo:sgn_id_8240 Narice singola/abufalia Narina única / aboufalia Narina única/aboufalia Single nare/abouphalia Trompe nasale/narine unique/abouphalie singuläre Nasenöffnung hrdo:sgn_id_8270 Beaked nose Nariz en pico Nariz ponteagudo Naso a becco Nez en bec d'oiseau schnabelförmige Nase hrdo:sgn_id_8300 Absent nasal cartilage/hypermobile nose Cartilagem nasal ausente / nariz hipermóvel Cartilagine nasale assente/naso ipermobile Cartílago nasal ausente/nariz hipermóvil Nez hypermobile/cartilage nasal absent fehlender Nasenknorpel/hypermobile Nase hrdo:sgn_id_8330 High nasal bridge Ponte nasal alta Ponte nasale alto Puente nasal alto Racine du nez proéminente prominente Nasenwurzel hrdo:sgn_id_8360 Depressed nasal bridge Ponte nasal achatada Ponte nasale depresso Puente nasal hundido Racine du nez déprimée eingesunkene Nasenwurzel hrdo:sgn_id_8390 Broad nasal root Racine du nez large Radice nasale larga Raíz do nariz larga Raíz nasal ancha breite Nasenwurzel hrdo:sgn_id_8420 Narrow nasal root Racine du nez étroite Radice nasale stretta Raíz do nariz estreita Raíz nasal estrecha schmale Nasenwurzel hrdo:sgn_id_8450 Anteverted nares/nostrils Narici anteverse Narinas antevertidas Narinas/fosas nasales antevertidas Narines antéversées nach vorne geneigte Nasenlöcher/ hrdo:sgn_id_8480 Ailes du nez minces/hypoplasiques Alas nasales delgadas/hipoplasia de las aletas nasales Ali nasali sottli/ipoplasiche Asas nasais finas / hipoplásicas Thin/hypoplastic ala nasi dünne/hypoplastische Nasenflügel hrdo:sgn_id_8510 Ailes du nez épaisses/larges Alas nasales delgadas/hipoplasia de las aletas nasales Ali nasali spesse/svasate Asas nasais largas /grossas Flared/thick ala nasi große/ausladende Nasenflügel hrdo:sgn_id_8540 Narici piccole/triangolari Narinas pequenas/triangulares Narinas/fosas nasales pequeñas/triangulares Narines petites/triangulaires Small/triangular nares/nostrils kleine/dreieckige Nasenlöcher hrdo:sgn_id_8570 Columela curta/ponta nasal achatada Columella corta/punta nasale schiacciata Columelle brève/pointe du nez aplatie Punta nasal hundida/columela corta Short columella/depressed nasal tip kurzer Nasensteg/flache Nasenspitze hrdo:sgn_id_8600 Columela grossa Columela gruesa Columella spessa Columelle épaisse Thick columella breiter Nasensteg hrdo:sgn_id_8630 Atresia coanal Atresia coanale Atresia das coanas Atrésie des choanes Choanal atresia Choanalatresie hrdo:sgn_id_8660 Agenesia/anomalia del seno frontale Agenesia/anomalia dos seios frontais Agenesia/anomalía de las cavidades nasales Agénésie/anomalie des sinus frontaux Frontal sinus agenesis/anomaly Stirnhöhlenagenesie/-anomalie hrdo:sgn_id_8690 Desviación del tabique nasal Deviazione del setto nasale Déviation de la cloison nasale Nasal septum deviation Septo nasal desviado Verkrümmung der Nasenscheidewand hrdo:sgn_id_8720 Nasal/sinus obstruction/apertura pyriformis hypoplasia/stenosis Obstrucción nasal/hipoplasia/estenosis de abertura piriforme Obstruction nasale/hypoplasie ou sténose des orifices piriformes Obstrução nasal/dos seios nasais / hipoplasia/estenose da abertura piriforme Ostruzione nasale/del seno/ipoplasia/stenosi dell'apertura piriforme verstopfte Nase/Hypoplasie/Stenose des Apertura piriformis hrdo:sgn_id_8750 Nasal polyposis Nasenpolypen Polipose nasal Poliposi nasale Poliposis nasal Polypose nasale hrdo:sgn_id_8780 Congestion nasale/sinusite/rhinite/rhinorrhée Congestione nasale/sinusite/rinite/rinorrea Congestión/sinusitis/rinitis/rinorrea nasal Congestão nasal/sinusite/rinite/rinorreia Nasal congestion/sinusitis/rhinitis/rhinorrhea verstopfte Nase/Sinusitis/Rhinitis/Rhinorrhö hrdo:sgn_id_8810 Anosmia/cacosmia/hipogeusia/hiposmia/hipoplasia del bulbo olfatorio Anosmia/cacosmia/hipogeusia/hiposmia/hipoplasia do bolbo olfativo Anosmia/cacosmia/hypogeusia/hyposmia/olfactory bulb hypoplasia Anosmia/cacosmia/ipogeusia/iposmia/ipoplasia dei bulbi olfattivi Anosmie/Kakosmie/Hypogeusie/Hyposmie/Hypoplasie des Bulbus olfactorius Anosmie/cacosmie/agueusie/hyposmie/hypoplasie des bulbes olfactifs hrdo:sgn_id_8840 Chondrite nasale/chondrite du nez Chondritis des Nasenknorpels Condrite nasal/do nariz Condrite nasale/condrite del naso Condritis nasal/de la nariz Nasal chondritis/nose chondritis hrdo:sgn_id_9000 Anomalias da boca, lábio e filtro Anomalie della bocca, delle labbra e del filtro Anomalien des Mundes, der Lippen und des Philtrums Anomalies de la bouche/lèvres/philtrum Anomalies of mouth, lip and philtrum Anomalías de boca, labios y philtrum nasolabial hrdo:sgn_id_9040 Macrostomia/big mouth Macrostomia/boca grande Macrostomia/bocca grande Macrostomie/grande bouche Macrostomía/boca grande Makrostomie hrdo:sgn_id_9080 Microstomia/boca pequena Microstomia/bocca piccola Microstomia/little mouth Microstomie/petite bouche Microstomía/boca pequeña Mikrostomie hrdo:sgn_id_9120 Labbra spesse Labios gruesos Lábios grossos Lèvres épaisses Thick lips volle/dicke Lippen hrdo:sgn_id_9160 Labbra sottili/rientrate Labios delgados/estrechos Lábios finos/retraídos Lèvres minces/rétractées/fines Thin/retracted lips dünne/zurückgezogene Lippen hrdo:sgn_id_9200 Labbra sporgenti Labios carnosos Lábios proeminentes Lèvres proéminentes Protruding lips vorgewölbte/wulstige Lippen hrdo:sgn_id_9240 Everted lower lip Labbro inferiore rovesciato Labio inferior evertido Lábio inferior evertido Lèvre inférieure éversée/tombante umgestülpte/evertierte Unterlippe hrdo:sgn_id_9280 Labbro superiore a V invertita Labio superior en forma de V invertida Lábio superior em tenda Lèvre supérieure en chapeau de gendarme Tented upper lip zeltförmige Oberlippe hrdo:sgn_id_9320 Angoli della bocca rivolti verso il basso Boca inclinada para baixo Boca triste Coins de la bouche tombants/commissures tombantes Downturned mouth hängende Mundwinkel hrdo:sgn_id_9360 Boca aberta Boca entreabierta Bocca tenuta aperta Bouche entrouverte en permanence Mouth held open offener Mund hrdo:sgn_id_9400 Accentuazione dell' arco di Cupido Arc de cupidon très marqué Arco de Cupido exagerado Arco de cupido muito marcado Exaggerated cupid bows markanter Amorbogen hrdo:sgn_id_9440 Fistule des lèvres Fossetas/fístulas labiais Fossette/fistole labiali Labio con depressiones/fístulas Lip pits/fistulae Lippenfisteln hrdo:sgn_id_9480 Hiperpigmentación del labio Hiperpigmentação do lábio Iperpigmentazione delle labbra Lip hyperpigmentation Lèvres hyperpigmentées/peintes überpigmentierte Lippen hrdo:sgn_id_9520 Filtro longo Filtro lungo Long philtrum Philtrum long Surco nasolabial largo langes Philtrum hrdo:sgn_id_9560 Filtro corto Filtro curto Philtrum court Short philtrum Surco nasolabial corto kurzes Philtrum hrdo:sgn_id_9600 Filtro marcatamente segnato Filtro profundo Philtrum deeply grooved Philtrum proéminent /crêtes philtrales proéminentes Surco nasolabial sumamente marcado tiefe Philtrumrinne hrdo:sgn_id_9640 Filtro piatto/largo/privo di tratti caratteristici/arco di Cupido assente Filtro plano/largo/apagado/arco de cupido ausente Philtrum flat/large/featureless/absent cupidon bows Philtrum plat/philtrum large/crêtes philtrales aplasiques/arc de cupidon absent Surco nasolabial plano/grande/sin rasgos distintivos/con Arco de Cupido ausente abgeflachtes Philtrum/langer/strukturarmer/fehlender Amorbogen hrdo:sgn_id_9680 Fusionned lips Fusão dos lábios Labbra fuse Labios fusionados Lèvres fusionnées verwachsene Lippen hrdo:sgn_id_9720 Affection de la muqueuse buccale/chéilite Doença da mucosa oral / queilite Krankheiten der Mundschleimhaut/Cheilitis Malattia delle mucosa orale/cheilite Oral mucosa disease/cheilitis Quelitis/enfermedad de la mucosa oral hrdo:sgn_id_9760 Aridità della bocca/xerostomia Boca seca / xerostomia Mouth dryness/xerostomia Mundtrockenheit/Xerostomie Sequedad bucal/xerostomia Sécheresse buccale/xérostomie hrdo:sgn_id_9800 Cleft lip Fenda do lábio Fente labiale Labio leporino Lippenspalte Schisi labiale hrdo:sgn_id_9840 Fenda mediana do lábio Fente labiale médiane Labio leporino medio Median cleft lip Schisi mediana delle labbra mediane Lippenspalte hrdo:sgn_id_9880 Fenda lateral do lábio / fenda da gengiva / fenda nasal paramediana Fente labiale latérale/fente gingivale/fente narinaire Labio leporino lateral/hendidura gingival/hendidura nasal paramediana Lateral cleft lip/gingival cleft/paramedian nasal cleft Schisi laterale delle labbra/schisi della gengiva/schisi paramediana del naso laterale Lippenspalte/Zahnfleischspalte/paramediane Nasenspalte hrdo:sgn_id_9920 Cleft lip and palate Fenda do lábio e do palato Fente labio-palatine Hendidura labial y palatina Labiopalatoschisi Lippenspalte und Gaumenspalte hrdo:trs_id_1 inheritance mode inheritance mode mode de transmission hrdo:typ_id_0 phenome phenome phénome hrdo:typ_id_00 no type phenome no type phenome phénome non typé hrdo:typ_id_1 anatomical anomaly anatomical anomaly anomalie anatomique hrdo:typ_id_10 subtype sous-type subtype hrdo:typ_id_11 disease disease maladie hrdo:typ_id_13 deprecated disorder deprecated disorder hrdo:typ_id_14 Concept sans aucune relation. historical disorder historical disorder hrdo:typ_id_15 moved to disorder moved to disorder hrdo:typ_id_16 histopathological subtype histopathological subtype sous-type histopathologique hrdo:typ_id_17 biological anomaly anomalie biologique biological anomaly hrdo:typ_id_2 clinical subtype clinical subtype sous-type clinique hrdo:typ_id_3 condition particular clinical situation in a disease or syndrome hrdo:typ_id_4 disorder disorder disorder hrdo:typ_id_5 etiological subtype etiological subtype sous-type étiologique hrdo:typ_id_6 group of diseases group of diseases groupe de maladies hrdo:typ_id_8 malformative syndrome malformative syndrome syndrome malformatif hrdo:typ_id_9 clinical syndrome clinical syndrome syndrome clnique hrdo:type_id_12 sequence sequence séquence Jean Charlet Marie-Christine Jaulent Orphanet Inserm US14 Pierre-Yves VandenBussche Rémy Choquet Xavier Aimé Ferdinand Dhombres 2013-09-11 00:19:52 Ontologie des maladies rares établie par lors du projet de recherche OrphaOnto (2010-2012, Limics, INSERM UMRS872) à partir des données d'Orphanet, INSERM US14 COPYRIGHT 2010-2013, INSERM, France Human Rare Diseases Ontology - HRDO Ontologie des maladies rares humaines